Word Flashcards

Question

Malignant melanoma A malignant skin cancer which originates from melanocytes. It is classified into

Answer 1

• Acral lentiginous melanoma - Occur on the soles of the feet, or palms of hand. - Slowly enlarging pigmented lesions which may bleed or ulcerate

Answer 2

• Lentigo maligna melanoma - Pigmented/ brown macule - Asymmetrical/ irregular in shape - Irregular pigmentation with different shades of brown, black, red

Answer 3

• Nodular melanoma - Dome-shaped nodule which grows rapidly over weeks - months - May bleed or ulcerate - Red, black or fleshy pink

Answer 4

: • Superficial spreading melanoma - Flat, pigmented lesions which spread horizontally - Irregular borders

Answer 5

. Clinical features • White, cracked plaques affecting the perianal region • Pruritus • May be associated dysuria, dyspareunia etc. Management • Topical steroids and emollients

Answer 6

• Koebner phenomenon → new skin lesions appearing at the site of trauma • Wickham’s striae → fine white lines which run across the surface of the rash. • A white lace pattern on buccal mucosa or tongue Management • Topical steroids

Answer 7

. Clinical features • Well-demarcated, flat, brown patches of skin • Occur in the inner thighs, groins or axillae • Grow over time Investigations • Scrapings for MCS - looks red when assessed under Wood’s lamp Management • Topical miconazole or clotrimazole

Answer 8

• TB, streptococci infection • Inflammatory bowel disease • Sarcoidosis • COC pill

Answer 9

Clinical features • Target lesions → a darker centre, a ring around this is paler pink and raised due to oedema and a bright red outermost ring. The target lesions are initially seen on the hand /feet before spreading to the torso • Upper limbs are more commonly affected than the lower limbs • Pruritus

Answer 10

. Aetiology • Viruses: herpes simplex virus (the most common cause) • Bacteria: Mycoplasma, Streptococcus • Drugs: penicillin, sulphonamides, carbamazepine • Connective tissue disease e.g. Systemic lupus erythematosus • Sarcoidosis

Answer 11

Clinical features • A bright red rash affecting both cheeks (slapped cheeks), which later spreads to the rest of the body • A warm bath, sunlight, heat or fever will trigger a recurrence of the bright red cheeks and the rash itself Management • Supportive • School isolation is not necessary • All pregnant women who are exposed need to see their GP urgently - Will require blood tests - parvovirus IgM and IgG antibodies. - If recent or current infection (IgM positive) then will require close fetal monitoring

Answer 12

Management • First-line: emollients • Second-line: steroids - Areas of dry skin and occasional itch - hydrocortisone 0.5-2.5% - Dry skin with frequent itching, and erythema - Betnovate RD (0.025%) or Eumovate (0.05%) - Severe itch, erythema and oozing/cracked skin - Cutivate (0.05%) or Betnovate (0.1%) - Very potent - Demovate (0.05%)

Answer 13

Eczema herpeticum Infection of the skin by herpes simplex virus 1 or 2, which is commonly seen in children with atopic eczema. It is a potentially life-threatening condition and children should be admitted for IV aciclovir.

Answer 14

Clinical features • An intensely itchy rash with vesicles affecting the extensor surfaces - elbows, buttocks, shoulders and knees Investigation • Skin biopsy of lesions confirms IgA deposition in dermis Management • Gluten-free diet

Answer 15

Management • Supportive • School isolation for 5 days after appearance of the rash • Calamine lotion

Answer 16

Clinical features • Affects elderly patients > 60 years • Itchy blisters around the flexures • The blisters heal without scarring • There is typically no mucosal involvement Investigations • Biopsy - IgG antibodies + C3 at the dermo-epidermal junction Management • Dermatology referral to confirm the diagnosis • Oral steroids

Answer 17

Clinical features • Pearly, pink coloured papule • May ulcerate in the centre or bleed • Often have rolled edges with central ulceration • Associated with telangiectasia Management • 2 week wait referral to dermatology • Management options → surgical removal, curettage, cryotherapy

Answer 18

. Clinical features • Well demarcated patches of hair loss on the scalp • Normal underlying skin • Exclamation mark hairs → short hairs Management • Referral to dermatologist • If there is hair re-growth - no treatment • If there is no hair regrowth - topical steroids e.g. Betnovate

Answer 19

. Clinical features • Painful swelling of the skin at the nail bed • On examination: - Nail folds are erythematous and swollen. Management • Incision and drainage is required if collection of pus present • Topical antibiotics are appropriate for minor, localised infection - fusidic acid

Answer 20

Clinical features • Crusty, scaly lesions • Pink, red, brown in colour • On sun-exposed areas e.g. temples of head Management • First-line: fluorouracil cream • Topical diclofenac

Answer 21

- A 12-week course of topical combination therapy should be tried first-line: · Topical adapalene with benzoyl peroxide (as above) · Topical tretinoin with clindamycin (as above) · Topical adapalene with benzoyl peroxide and oral tetracycline (lymecycline/doxycycline) · Topical azelaic acid BD and oral tetracycline (lymecycline/doxycycline) · Referral to dermatology is indicated if patient has not responded to treatment which included oral antibiotics To reduce the risk of antibiotic resistance, patients should NOT have: monotherapy with a topical antibiotic/monotherapy with an oral antibiotic/a combination of a topical antibiotic and an oral antibiotic. oral contraceptive pill

Answer 22

: - A 12-week course of topical combination therapy should be tried first-line: · Topical adapalene with topical benzoyl peroxide · Topical tretinoin with topical clindamycin · Topical benzoyl peroxide with topical clindamycin · Referral to dermatology is indicated if patient has not responded to 2 x complete courses of treatment

Answer 23

Mild to moderate • Any number of non-inflammatory lesions (comedones) • Up to 34 inflammatory lesions (with or without non-inflammatory lesions) • Up to 2 nodules.

Answer 24

Moderate to severe • 35 or more inflammatory lesions (with or without non-inflammatory lesions) • 3 or more nodules

Answer 25

Aetiology • Type 2 diabetes mellitus • Gastrointestinal cancer • Obesity • Polycystic ovarian syndrome • Combined

Answer 26

. Clinical features • Thick, white, ‘cheese like’ vaginal discharge • Pruritis • Dysuria • Associated with dyspareunia Management • Oral fluconazole 150 mg as a single dose first-line OR • Clotrimazole 500 mg intravaginal pessary as a single dose (If pregnant or breastfeeding)

Answer 27

• Recent travel to high risk areas • Abdominal pain and distension • Fever which plateaus at 39-40 degrees • Constipation • On examination: - Bradycardia - Rose spots on trunk - Hepatosplenomegaly - Mild ascites Investigation • Blood cultures Management • First-line: cefotaxime or ceftriaxone

Answer 28

Rifampicin • Hepatitis • Orange secretions/urine Isoniazid • Peripheral neuropathy • Agranulocytosis Pyrazinamide • Hyperuricemia → causing gout • Arthralgia • Hepatitis Ethambutol • Optic neuritis (check visual acuity before treatment)

Answer 29

: • Rifampicin • Isoniazid • Pyrazinamide • Ethambutol For the following 4 months: • Rifampicin • Isoniazid The treatment for latent tuberculosis is 3 months of isoniazid (with pyridoxine) and rifampicin OR 6 months of isoniazid (with pyridoxine).

Answer 30

. • Haemoptysis • Weight loss • Fever • Night sweats • Breathlessness • Chest pain Investigation • Chest x-ray • Sputum culture - Ziehl-Nielsen staining of a sputum smear will demonstrate the presence of acid-fast bacilli in TB patients - Definitive diagnosis of TB is made by identifying M. tuberculosis in the culture • The Mantoux tuberculin skin test is used to screen people for latent TB.

Answer 31

Initial infection clears in over 80% of people but, in a few cases, the infection lies in the lungs as a granuloma and remains dormant - the person is not ill and is not infectious during this period. It is a granuloma with caseating (cheese-like) central necrosis. During periods of compromise to the host immune system, the latent infection can progress to active disease (occurs in 10% of patients)

Answer 32

. Clinical features • Offensive, yellow - green vaginal discharge • Vaginal pruritis • Can cause dysuria • On examination: - Speculum →inflammation of vulva/vagina - ‘strawberry cervix’ - Microscopy → motile trophozoites Management • Oral metronidazole 400mg BD for 1 week

Answer 33

• 2 months • 3 months • 4 months • 3-5 years • 13-18 years

Answer 34

- High-risk wounds (e.g. compound fractures) → need a reinforcing dose of vaccine + tetanus immunoglobulin • Patients who do not known their vaccination history or vaccine is incomplete: - Need reinforcing dose of vaccine regardless of the wound severity - For tetanus prone and high-risk wounds: reinforcing dose of vaccine + tetanus immunoglobulin

Answer 35

Investigation Referral to GUM specialist • Swabs taken from primary lesion for PCR to detect the bacteria • VDRL antigen test Management • IM Benzathine Benzylpenicillin - Rapid plasma reagin [RPR] or Venereal Disease Research Laboratory [VDRL]) titres should be monitored after treatment to assess the response

Answer 36

• Tertiary syphilis: - Gummas → granulomatous lesions of the skin and bones - Ascending aortic aneurysms or aortic regurgitation - General paralysis of the insane - Tabes dorsalis - Argyll-Robertson pupil

Answer 37

. Clinical features • Primary syphilis - Characterised by a chancre - a single, well-demarcated ulcer at the site of sexual contact, associated with non-tender, local lymphadenopathy. • Secondary syphilis: - Generalised lymphadenopathy - Fever, lethargy - Snail tract lesions on oral mucosa - Condylomata lata - wart-like lesions - Maculopapular rash - on trunk, the soles of the feet/palms of the hands

Answer 38

Classification • Haematogenous osteomyelitis - Results from bacteraemia and is monomicrobial - Risk factors include: sickle cell anaemia, intravenous drug user, immunosuppression etc. • Non-haematogenous osteomyelitis: - Due to spread from adjacent infected soft tissues to the bone and is often polymicrobial risk factors include: diabetic foot ulcers, pressure sores, diabetes mellitus

Answer 39

Investigation • MRI Management • Flucloxacillin for 6 weeks

Answer 40

Clinical features • History of recent travel to high risk areas • Fever, often >39 °C - The fever can be cyclical, rigor • Headache • Jaundice • Splenomegaly

Answer 41

Investigation • Thick and thin blood films - gold-standard • Rapid diagnostic test → histidine-rich protein 2 (HRP2) and plasmodium LDH (pLDH) Management • First-line: artemisinin combination therapy (ACT) - Artemether-lumefantrine (Riamet) is drug of choice • Second-line: Quinine Complicated/severe malaria is treated in hospital with IV artesunate

Answer 42

Clinical features • Primary stage → painless genital ulcer 3-12 days after infection • Secondary stage → painful inguinal lymphadenopathy + proctocolitis (anal discharge, tenesmus) Investigation • Nuclear acid amplification tests (NAATs) - the investigation of choice Management • 7 day course of doxycycline

Answer 43

. Clinical features • Erythema migrans - 'Bulls-eye' rash at the site of the tick bite - With systemic features → headache, lethargy, fever • Arthritis Investigation • Diagnosed clinically if erythema migrans is present • First-line test: enzyme-linked immunosorbent assay (ELISA) antibodies to Borrelia burgdorferi Management • Patients with erythema migrans rash or positive ELISA: • Start Doxycycline 100mg BD for 21 days

Answer 44

Clinical features • Dry scalp • Visual changes • Skin changes - hypopigmented OR hyperpigmented skin which is dry • Sensory loss of the affected areas of skin • Can progress to paralysis - e.g. of hands Management • Treatment is complex and requires advice from the panel of Leprosy Opinion.

Answer 45

Oesophageal candidiasis • Candidiasis infection of the oesophagus • Dysphagia, odynophagia • Mx → oral fluconazole

Answer 46

Hairy leukoplakia • Caused by EBV infection • A white patch on the side of the tongue with a hairy appearance • Benign and does not require treatment Kaposi’s sarcoma • Caused by HHV-8 (human herpes virus 8) infection • Purple papules or plaques on the skin or mucosa (e.g. gastrointestinal and respiratory tract) • Mx → radiotherapy and resection

Answer 47

. Phases + clinical features • Primary HIV infection - seroconversion - In the first 1 - 6 weeks - Causes flu-like illness - sore throat, lethargy, mouth or genital ulcers, lymphadenopathy, maculopapular rash, myalgia, diarrhoea - Viral load is high in this stage - The patient is very infectious • Asymptomatic phase. - The duration of this varies widely - Some patients progress to advanced HIV disease → acquired immunodeficiency syndrome (AIDS) within 1–2 years - Others maintain effective immune function more than 10 years later (slow progressors). • Acquired immunodeficiency syndrome - CD4 count < 200 cells/μL - At risk of opportunistic infections

Answer 48

Investigation • Combination tests of HIV p24 antigen and HIV antibody (through ELISA) are now standard for the diagnosis and screening of HIV - If positive, the combination test should be repeated to confirm the diagnosis • ELISA (Enzyme Linked Immuno-Sorbent Assay) test identifies antibodies - But antibodies can take 6 weeks to develop so early tests can produce false negative results

Answer 49

Management Immediate treatment for all patients with triple therapy, irrespective of CD4 count. • Triple therapy - Two nucleoside reverse transcriptase inhibitors (NRTIs) e.g. Abacavir + lamivudine - Plus one of the following as third drug: · Integrase inhibitor (INI) e.g. Raltegravir, dolutegravir · Non-nucleoside reverse transcriptase inhibitors (NNRTI) e.g. Nevirapine, Efavirenz · Protease inhibitor (PI) e.g. indinavir, nelfinavir - Possible side-effect of NRTIs → peripheral neuropathy

Answer 50

Genital herpes - clinical features • Painful genital ulcers • Dysuria • Inguinal lymphadenopathy • Vaginal/urethral discharge Investigation • PCR testing of swab Management • For cold sores → topical aciclovir • For genital herpes → oral aciclovir/valaciclovir

Answer 51

Clinical features • Flu-like prodrome • Right upper quadrant abdominal pain • Blood test: deranged liver function tests • On examination: - Tender hepatomegaly - Jaundice Management • Supportive • Vaccination is available when traveling to high risk areas

Answer 52

. Clinical features in women • Mucopurulent endocervical discharge • Lower abdominal pain • Intermenstrual bleeding • Deep dyspareunia Clinical features in men • Urethritis - Urethral discharge and/or dysuria • Rectal infection - Anal discharge, perianal pain

Answer 53

Investigation • Nuclear acid amplification tests (NAATs) - the investigation of choice • For women → sample is collected via vulvo-vaginal swab • For men → sample is collected via first catch urine Management • A single dose of IM ceftriaxone 1g • If sensitivities are known → a single dose of oral ciprofloxacin 500mg Test of cure post treatment is recommended in all patients.

Answer 54

Clinical features • Swelling and erythema with an elevated border • Tender • Warm to touch Management • Penicillin antibiotics

Answer 55

Clinical features in men • Dysuria • Abnormal cloudy discharge Investigations • Nuclear acid amplification tests (NAATs) - the investigation of choice • For women → sample is collected via vulvo-vaginal swab • For men → sample is collected via first catch urine Management • 7 day course of doxycycline • Azithromycin is used for pregnant women

Answer 56

. Clinical features • Painful genital ulcers with a ragged/irregular border • Painful inguinal lymphadenopathy

Answer 57

. Clinical features • The most commonly affected site is the shins • Unilateral infection affecting one side • Fever • Erythema with well-defined margins • Swelling • Warm to touch Investigation • Clinical diagnosis Management Management is guided by the Eron classification. • Most patients managed with oral flucloxacillin • Severe cases require admission for IV antibiotics

Answer 58

Clinical features • Thin vaginal discharge which smells ‘fishy’ • No pain • The condition can also be asymptomatic in up to 50% of cases • The Amsel criteria is used to diagnose BV: - Thin, homogenous discharge - Clue cells on microscopy: stippled vaginal epithelial cells - Vaginal pH > 4.5 - Positive whiff test (addition of potassium hydroxide results in fishy odour) Management • Oral metronidazole for 1 week

Answer 59

• Wound should be cleaned • Bacterial cover with oral co-amoxiclav • The risk of viral infections such as HIV and hepatitis C should also be considered with human bites

Answer 60

Clinical features • Urinary symptoms - frequency, dysuria, urinary retention, voiding symptoms (poor stream, hesitancy etc.) • Perineal pain • Pain on ejaculation • Lower back pain • On examination: - DRE → the prostate is tender on examination, and may feel swollen and warm. Investigations • Urinary MCS Management • First-line antibiotics: Ciprofloxacin or ofloxacin

Answer 61

All children with a palpable abdominal mass need urgent referral to be seen within 48 hours. Investigation • First-line: abdominal USS Management • Surgery

Answer 62

Clinical features • Short stature • Learning difficulties • Facial features → full cheeks, wide mouth with full lips, widely spaced teeth • Friendly, extrovert personality Complication • Supravalvular aortic stenosis

Answer 63

Clinical features • Catarrhal phase - Flu-like symptoms • Paroxysmal phase - Characterised by severe coughing bouts, usually worse at night and after feeding - Post-tussive vomiting - Inspiratory whoop - May have spells of apnoea • Convalescent phase - The cough subsides over weeks to months

Answer 64

Investigation • Nasal swab with PCR/bacterial culture Management • An oral macrolide e.g. clarithromycin if the onset of the cough is within the previous 21 days • Patients should be isolated to prevent spread

Answer 65

Clinical features • Flu-like symptoms - cough, coryza • Followed by shortness of breath and an expiratory wheeze Management • A short-acting beta-2 agonist (SABA) inhaler - to use at home as required • Admission to hospital for severe cases

Answer 66

Clinical features • Recurrent childhood urinary tract infections Investigation • Micturating cystourethrogram (MCUG) - MCUG should be done in all children < 6 months following atypical UTI or in recurrent UTI Management • Prophylactic antibiotics • Surgical management

Answer 67

• Lower UTI in child > 3 months → oral trimethoprim or nitrofurantoin • Recurrent UTIs in any child > 3 months → trimethoprim, nitrofurantoin

Answer 68

Ultrasound: • Arrange urgent USS if evidence of an atypical infection or failure to respond to treatment • Arrange USS within 6 weeks for - Children > 6 months with recurrent UTI - Children < 6 months with first time UTI Dimercaptosuccinic acid scintigraphy (DMSA) scan: • To identify renal parenchymal defects • DMSA scan is performed within 4-6 months in: - Children < 3 years with atypical UTI - Any child with recurrent UTI (3 or more UTIs)

Answer 69

Clinical features In young children < 3 months, the presentation tends to be non-specific: • Pyrexia • Vomiting • Poor feeding • Irritability, crying, lethargy In children > 3 months: • Pyrexia • Dysuria, urinary frequency, abdominal pain • Vomiting and poor feeding • Urinary symptoms - cloudy urine, haematuria

Answer 70

. Cutaneous features • Depigmented 'ash-leaf' spots • Thickened patches of skin over lumbar spine → Shagreen patches • Adenoma sebaceum (angiofibromas) in a butterfly distribution over nose • Fibromata beneath nails (subungual fibromata) • Cafe-au-lait spots Neurological features • Autism • Developmental delay • Epilepsy • Learning disability Kidneys → Renal angiomyolipomas (AML) Heart → Cardiac rhabdomyomas Eyes → Retinal phakomas

Answer 71

• Acute hip pain • Antalgic gait/refusal to weight bear • Reduced range of movement, especially abduction • Fever Investigations • Bloods - elevated WCC/CRP Management • Self-limiting condition • Supportive management, NSAIDs

Answer 72

Clinical features • Loose/poorly formed stools with undigested food • Colicky abdominal pain • Flatus • Normal growth and development. • On examination: abdominal distension Management • Reassurance • Dietary advice

Answer 73

Investigation • Applying Sellotape to the perianal area and sending it to the laboratory for microscopy Management: • Single dose of mebendazole

Answer 74

Clinical features • Hip/groin/medial thigh/knee pain • Antalgic gait • On examination: - Loss of internal rotation of the leg Investigation • Pelvic XRAY Management • Surgery

Answer 75

Clinical features • Joint pain, limp • Fever • On examination: - A swollen, red joint - Tenderness on passive movement of the hip - The child will hold the hip in a position that maximises the intracapsular volume · In flexion, abduction and external rotation Management • Admission to hospital with IV antibiotics • Might require joint washout

Answer 76

Investigation • Throat swab Management • Phenoxymethylpenicillin for 10 days Complications • Otitis media • Rheumatic fever • Acute glomerulonephritis

Answer 77

Clinical features • Prodrome: flu-like symptoms • Maculopapular rash → initially on the face before spreading to the whole body • Lymphadenopathy Management • Supportive

Answer 78

Clinical features • High fever • Maculopapular rash • Nagayama spots: papular enanthem on the uvula and soft palate • Febrile convulsions

Answer 79

Investigation • USS abdomen → thickened pylorus • Blood test → hypochloraemic, hypokalaemic alkalosis due to persistent vomiting Management • Surgery: Ramstedt’s pyloromyotomy

Answer 80

Clinical features • Suspect pyelonephritis if unexplained fever > 38 OR loin pain • Urinary symptoms - dysuria, haematuria, cloudy urine Investigation • Urine MCS • Consider referral to paediatrics Management • Pyelonephritis in child > 3 months - oral cefalexin

Answer 81

Prader-Wili syndrome A genetic disorder caused by deletion on Chromosome 15. Clinical features • Hypotonia - ‘floppy babies’ • Short stature • Hypogonadism • Truncal obesity • Learning disabilities

Answer 82

Clinical features • Hip pain • Limping, antalgic gait • Reduced range of hip movement Investigation • X-ray - Widening of joint space, decreased femoral head size Management • < 6 years: observation, otherwise surgery

Answer 83

Clinical features • Microcephalic, small eyes • Cleft lip/palate • Polydactyly

Answer 84

. Clinical features • Unexplained bone pain or swelling - Worse at night • Typical occurs at the end of long bones e.g. proximal femur Investigation • Urgent X-ray within 48 hours - Codman triangle (from periosteal elevation) - 'Sunburst' pattern

Answer 85

. Clinical features • Tenderness and swelling over the tibial tubercle • Worse after sport/walkin, relieved with rest Management • Analgesia • Physiotherapy

Answer 86

Clinical features • Short stature • Webbed neck • Pectus excavatum Complication • Pulmonary stenosis

Answer 87

Neurofibromatosis 1 (Mutation of NF1 gene on chromosome 17) • Most children are diagnosed by the age of 10 • Diagnosis requires 2 of the following features: - >6 café au lait spots - Axillary/groin freckles - 1 neurofibroma - 2 or more Iris hamatomas (Lisch nodules) - Optic glioma - Skeletal dysplasia - Affected 1st degree relative

Answer 88

Neurofibromatosis 2 (Mutation of NF2 gene on chromosome 22) • Most individuals are diagnosed later on in life (20 - 30 years of age) • For diagnosis → 1 of the following criteria: - Bilateral vestibular schwannomas and <70 years of age - Unilateral vestibular schwannoma < 70 years and a first-degree relative with NF2 - Any 2 of the following: meningioma, schwannoma (non-vestibular), neurofibroma, glioma, cerebral calcification, cataract AND first-degree relative to NF2 - Pathogenic NF2 gene mutation

Answer 89

Jaundice after 2 weeks of life • Breast milk jaundice - Jaundice is more common in breastfed babies - Starts in the 1st week of life and can last up to 3 months. - Self-limiting • Prematurity - Due to immature liver function • Biliary atresia • Hypothyroidism • Galactosaemia • Urinary tract infection

Answer 90

Jaundice between 2 days - 2 weeks of life • This is common and usually physiological. Occurs due to increased breakdown of fetal red blood cells.

Answer 91

Jaundice in the first 24 hours of life is always pathological. Common causes: • Rhesus haemolytic disease • ABO haemolytic disease • Hereditary spherocytosis

Answer 92

Complications Unconjugated bilirubin is able to pass blood brain barrier. • Kernicterus: brain dysfunction • Cerebral palsy • Learning difficulties • Developmental delay Management • Physiological and breast-milk jaundice do not require treatment • Otherwise, treat the underlying cause • Options for treating jaundice → blue light Phototherapy (PT), exchange transfusion

Answer 93

. Clinical features • Promdromal phase → fever, conjunctivitis • Koplik spots → white spots on the buccal mucosa • A rash starts behind ears then to the whole body Management • Supportive Complications • Otitis media: the most common complication • Pneumonia • Encephalitis

Answer 94

Complications • Aortic aneurysm, aortic dissection, aortic regurgitation • Repeated lung pneumothoraces • Upwards lens dislocation of the eyes - Blue sclera Management • Beta-blocker/ACE-inhibitor therapy • ECHO monitoring

Answer 95

Clinical features • Tall • Long limbs • High-arched palate • Pectus excavatum/carinatum • Scoliosis • Arachnodactylyl - long, curved fingers and toes • Joint laxit

Answer 96

Clinical features • Tall • Small testes • Infertility • Gynaecomastia • High gonadotrophin levels • Low testosterone

Answer 97

Clinical features • History of a preceding URTI or gastroenteritis • Severe, crampy abdominal pain → inconsolable crying, drawing legs up • Bloodstained stool → ‘Redcurrant jelly’ stool • Signs of intestinal obstruction → bilious vomiting, abdominal distention • On examination: - Sausage-shaped mass in the right upper quadrant

Answer 98

Investigation • USS abdomen → shows ‘target sign’ Management • Barium/water-soluble contrast/air-contrast enema → reduces the invagination control • Surgery

Answer 99

. Clinical features • A macular rash which resembles golden, honey-coloured crust • Occurs on the face, around the mouth or on the extremities • Lesions are itchy, sometimes painful • Can become bullous with blisters/vesicles Management • Non-bullous impetigo → Hydrogen Peroxide 1% • Bullous impetigo → Oral flucloxacillin

Answer 100

Investigation • AXR → intestinal obstruction • Gold-standrad → rectal biopsy: no ganglion cells in the submucosa Management • Surgical - removal of aganglionic section of bowel.

Answer 101

. Clinical features The condition is often preceded by a recent URTI. • A palpable purpuric rash over the extensor surface of the buttocks and legs • Abdominal pain • Polyarthritis • Nephritis - mild focal segmental glomerulonephritis, proteinuria, microscopic haematuria Investigation • Clinical diagnosis • Urinalysis Management • Supportive, analgesia

Answer 102

. Clinical features • Painful oral ulcers • Followed later by vesicles on the palms and soles of the feet Management • Reassurance

Answer 103

disorder. Clinical features - Facial features: long face, large jaw, long ears - Large testicles - Learning difficulties, IQ <70

Answer 104

Clinical features - Muscle weakness starts in the face, affecting the mouth and cheeks → eyes remain open during sleep, eyelids cannot be tightly closed, difficult sucking from a straw, difficulty whistling. - Weakness progresses downwards to the shoulder girdle, humeral muscles, abdominal muscles and so on. - Causes winging of the scapula

Answer 105

Clinical features • Yellow/white papules with an erythematous bases • Usually begins on the cheeks, spreads to forehead • The lesions are transient - they can appear-disappear within minutes to hours Management • A self-limiting condition • Reassurance

Answer 106

Clinical features • Abrupt onset of sore throat, odynophagia • Fever • Stridor • Drooling of saliva • Muffled voice • Tripod position - leaning forwards to ease breathing

Answer 107

Investigation • Clinical diagnosis made by direct observation • XRAY → ‘thumb sign’ Management • May require endotracheal intubation to protect the airway • Oxygen • IV antibiotics

Answer 108

Management in primary enuresis (sustained night time continence was never achieved: • Reassurance • Diet-fluid advice • First-line: Enuresis alarm • Second-line: Desmopressin - Particularly if short-term control is needed (e.g. for sleepovers • If treatment failure with 2 courses of alarm/desmopressin, refer to enuresis clinic/paediatrics Management in Secondary bedwetting • Treat the underlying cause • Refer to paediatrics enuresis clinic

Answer 109

. Clinical features • Small for gestational age • Low-set ears • Rocker bottom feet • Overlapping of fingers

Answer 110

Investigation • AXR shows double bubble sign Management • Surgery

Answer 111

Investigation • Genetic analysis • Blood test → raised creatine kinase levels Management • Referral to specialist

Answer 112

Clinical features • Facial features: - Low-set ears - Up-slanting eyes - White spots in iris → Brushfield’s spots ( - Prominent epicanthic folds • Short neck • Flat occiput • Single palmar crease • Wide sandal gap between first and second toes • Short stature • Learning difficulty

Answer 113

Complications • Ventricular septal defect • Tetralogy of Fallot (c. 5%) • Patent ductus arteriosus • Duodenal atresia • Early onset alzheimer’s disease • Hypothyroidism Management of condition • Multi-disciplinary approach to management

Answer 114

Clinical features • Facial features: prominent nasal bridge, down-slanting eyes, small mouth, cleft palate • Short stature • Aplasia/hypoplasia of the parathyroid gland → hypocalcaemia • Learning difficulties • Thymus aplasia → T-cell deficiency → recurrent infections

Answer 115

• Discrepancy between the length of the legs • Reduced hip abduction • Barlow’s sign positive, ortolani’s sign positive Investigations • Ultrasound if age < 6 months • AP pelvic XRAY if > 6 months Management • Most unstable hips will spontaneously stabilise by 3-6 weeks of age • Age < 6 months - Pavlik harness

Answer 116

Complications • Pancreatic insufficiency → steatorrhoea, diabetes • Liver disease • Gut disease → chronic constipation • Obstructive lung disease → Bronchiectasis • Nasal polyps Investigation The condition is diagnosed via the newborn blood spot screening performed at 5 - 9 days of life. • Gold standard: the sweat test → Chloride > 60 mmol/L • Gene analysi

Answer 117

s Management Referral to a specialist to be managed via MDT approach • Airway clearance techniques • Mucoactive agents → rhDNase • Prophylactic antibiotics against common causes of chest infections - azithromycin • Creon - for malabsorption • Ursodeoxycholic acid - for liver disease

Answer 118

Clinical features • Sudden onset of harsh, barking cough, which is worse at night • Hoarse voice • On examination: - Stridor - Signs of respiratory distress - Fever Investigation • Clinical diagnosis Management • Single dose of oral dexamethasone (0.15mg/kg) • Severe cases require admission

Answer 119

Investigation • Clinical diagnosis → elimiting cow’s milk to see if symptoms resolve + seeing if symptoms return on re-introduction • Skin prick test • Total IgE and specific IgE (RAST) for cow's milk protein Management • Exclusively breastfeeding with exclusion of all cow’s milk from maternal diet • If breastfeeding not possible or preferred: - First-line: extensive hydrolysed formula (eHF) milk - Second-line: amino acid-based formula (AAF) in infants

Answer 120

Clinical features Symptoms vevelop within 1 week of the introduction of cow's milk. The reactions can be immediate (IgE mediated) within minutes, or delayed (non-IgE mediated) reactions so they occur 2-72 hrs post ingestion. • Rash - erythema/urticaria/angioedema/pruritis/perioral rash • Gastrointestinal - regurgitation, vomiting, diarrhoea • Respiratory - cough, wheeze, breathlessness

Answer 121

Investigation • Immunofluorescence of nasopharyngeal secretions may show RSV Management • Supportive → oxygen, nutrition, IV fluids • Palivizumab - a monoclonal antibody used for prevention in high-risk babies

Answer 122

Clinical features • Cholestatic jaundice → pale stools, dark urine • On examination → hepatosplenomegaly Investigation • Cholangiogram Management • Surgery: Kasai portoenterostomy

Answer 123

Clinical features • Flu-like/coryzal symptoms • Dry cough • Breathlessness • Feeding difficulties • Apnoeic episodes • On examination: - Wheeze - Fine inspiratory crackles

Answer 124

. Clinical features The condition presents around 10 - 11 years of age • Progressive muscle weakness → Difficulty running, climbing stairs, getting up from floor, walking • Severe upper extremity muscle weakness e.g. difficult to lift arms • Toe-walking • Calf pseudohypertrophy • Gower’s sign: uses arms to ‘walk up’ their body from a squatting position • Most sufferers become wheelchair bound is their 30s. Management • Referral to a specialist

Answer 125

• Difficulties in social interaction • Prefers being alone, avoids eye contact, difficult to make friends • Speech and language disorder • Over-literal interpretation, delayed development • Rigid routines with repetitive behaviour • Resistance to change or restricted interests Management • Behavioural analysis

Answer 126

Diagnostic criteria: • Symptoms should be evident before the age of 7 years • The signs have persisted for six months • There is evidence of impairment of academic or social functioning • The impairment of functioning is present in at least two settings (generally at school and at home)

Answer 127

Management: • Drug therapy is only available after the age of 5 years. • First-line: Group-based ADHD-focussed training and education for parents and patients • Second-line: methylphenidate, on a six-week trial basis

Answer 128

. Clinical features • Ophthalmoplegia/nystagmus • Ataxia • Ancephalopathy Management • Urgent thiamine replacement

Answer 129

There are red flag signs which warrant urgent referral to neurology: - Sensory changes - Deafness - Pain only in the ophthalmic division of the trigeminal nerve (eye socket, forehead, and nose), or bilaterally - Optic neuritis - Age of onset before 40 years - A family history of multiple sclerosis

Answer 130

Clinical features: Sudden onset, focal neurological deficit which usually resolves within 1 hour. Possible deficits are: • Unilateral weakness • Unilateral sensory loss. • Aphasia or dysarthria • Ataxia, vertigo, or loss of balance • Visual problems - Sudden transient loss of vision in one eye (amaurosis fugax) - Diplopia - Homonymous hemianopia

Answer 131

Investigation and management: • All patients with acute focal neurological symptoms that resolve completely within 24 hours of onset (i.e. suspected TIA) should: - Be given aspirin 300 mg immediately unless contraindicated - Assessed urgently within 24 hours by a stroke specialist clinician • If single TIA which occurred within the last 7 days - Urgent assessment should be performed in less than 24hrs by stroke specialist • If a patient presents more than 7 days ago they should be seen by a stroke specialist clinician as soon as possible within 7 days. • If crescendo TIA (>1 TIA) OR cardioembolic source is suspected (e.g. infective endocarditis) OR severe carotid stenosis - Consider admission

Answer 132

Long-term antiplatelet therapy: • For patients within 24 hours of onset of TIA or minor ischaemic stroke and with a low risk of bleeding, the following DAPT regimes should be considered: - Clopidogrel (initial dose 300 mg followed by 75 mg od) + aspirin (initial dose 300 mg followed by 75 mg od for 21 days) followed by monotherapy with clopidogrel 75 mg od

Answer 133

The criteria for diagnosis: • The onset of memory loss is sudden and witnessed by someone. • The patient has pronounced anterograde amnesia. • The episode lasts between 1 and 24 hours, usually resolving within six hours. • No neurological signs or deficits • No additional cognitive deficits • No loss of consciousness • No history of trauma or epilepsy • The patient commonly asks repetitive questions such as “Where am I?” or “How did I get here?” • The patient has normal cognition • Learned functions intact: The patient's learned functions such as eating, language, and driving are not impaired.

Answer 134

Clinical features • Bilateral headache • Described as a 'tight-band' • No neurological symptoms • Associated with stress Investigation • Clinical diagnosis Management • Stress-relief • Simple analgesia

Answer 135

- May result in temporary visual loss - amaurosis fugax - Permanent visual loss is the most feared complication of temporal arteritis and may develop suddenly • Features of PMR: aching, morning stiffness in proximal limb muscles (not weakness) Investigation • Raised inflammatory markers - ESR > 50 mm/hr - CRP may also be elevated • Temporal artery biopsy - Skip lesions may be present, so biopsy may miss focal lesions and necessitate repeat biopsy

Answer 136

Management • Urgent high-dose glucocorticoids should be given as soon as the diagnosis is suspected - If there is no visual loss then high-dose prednisolone is used - If there is evolving visual loss IV methylprednisolone is usually given prior to starting high-dose prednisolone • Urgent ophthalmology review - Patients with visual symptoms should be seen the same-day by an ophthalmologist - Visual damage is often irreversible

Answer 137

Clinical features: • Wasting of muscles of the hands • Vertigo and nystagmus • Facial sensory loss • Reduced reflexes in the upper limbs

Answer 138

Clinical features Symptoms develop slowly over multiple years • Loss of pain and temperature sensation - Affecting the neck, shoulders and arms – ‘shawl’ pattern • Light touch, proprioception and vibration sensations are preserved • Weakness and increased tone of lower limbs • Neuropathic pain • Atrophy of hand muscles Investigation • MRI spine • MRI brain → to exclude a Chiari malformation Management • Treating the underlying cause • Surgery → a shunt into the syrinx can be placed

Answer 139

Classification • 'Reflex' (neurally mediated) such as: - Vasovagal syncope e.g. triggered by emotion, pain or stress - Situational syncope e.g. micturition syncope - Carotid sinus syndrome • Orthostatic hypotension - Associated with autonomic failure → parkinsons, diabetic neuropathy, amyloidosis • Cardiac syncope - Associated with arrhythmias e.g. sinus node dysfunction causing bradycardia

Answer 140

Clinical features • Transient loss of consciousness • Short duration • Spontaneous complete recovery • There may be brief jerking movements during the syncope (does not necessarily mean seizure) Features suggesting an uncomplicated syncope: • Prolonged standing • Provoking factors such as pain or emotional • Prodromal symptoms such as sweating Investigation • History, examination and ECG • Postural blood pressure Patients with typical features, no postural drop and a normal ECG do not require further investigations.

Answer 141

Subdural haemorrhage A collection of blood between the inner layer of the dura mater and the arachnoid mater of the meninges surrounding the brain. It usually results from tears in bridging veins that cross the subdural space. The condition is associated with a history of head trauma, and patients frequently exhibit a lucid interval followed by a gradual decline in consciousness.Classification • Acute: develops within 48 hours of injury, characterised by rapid neurological deterioration • Subacute: manifests within days to weeks post-injury, with a more gradual progression. • Chronic: develops over weeks to months, common in elderly patients. Patients may not recall a specific head injury. Clinical features • Elderly patients or history of alcohol excess (brain atrophy increases risk of torn bridging veins)• Fluctuating consciousness • Focal Neurological Deficits: Weakness on one side of the body, aphasia, or visual field defects • Features of raised intracranial pressure - papilloedema, pupil changes, headache • Personality change • Memory impairment • History of fall Classification • Acute subdural haematoma - most commonly caused by high-impact trauma.• Chronic subdural haematoma - a collection of blood within the subdural space that has been present for weeks to months. Rupture of the small bridging veins within the subdural space rupture and cause slow bleeding. Elderly and alcoholic patients are particularly at risk of subdural haematomas since they have brain atrophy and therefore fragile or taut bridging veins. Investigation • CTH → crescentic collection, not limited by suture lines. They will appear hyperdense (bright) in comparison to the brain. Large haematomas can cause a midline shift. Management • Referral to neurosurgery

Answer 142

Clinical features • Sudden-onset 'thunderclap' or 'hit with a baseball bat' severe headache - Occipital region - Typically peaking in intensity within 1 to 5 minutes • Nausea and vomiting • Meningism (photophobia, neck stiffness)

Answer 143

Investigation • Non-contrast CT head is the first-line investigation of choice - If CT head is done within 6 hours of symptom onset and is normal - consider an alternative diagnosis - If CT head is done more than 6 hours after symptom onset and is normal - do a lumber puncture (LP) · The LP should be performed at least 12 hours following the onset of symptoms to allow the development of xanthochromia (the result of red blood cell breakdown). Management • If evidence of SAH - refer to neurosurgery - Aneurysmal bleeding treated with endovascular coiling - A causative pathology should be investigated for once SAH confirmed - needs CT intracranial angiogram (to identify a vascular lesion e.g. aneurysm or AVM) • Medical management - Nimodipine (prevents vasospasm)

Answer 144

In acute stroke patients should be commenced on Aspirin 300 mg OD for 2 weeks (plus PPI), after which they should commence secondary prevention: 1st Line: Clopidogrel 75mg OD (or NOAC if AF) 2nd Line: Aspirin + MR dipyridamole 200mg BD 3rd. Modified release Dipyridamole alone

Answer 145

Thrombectomy Offer thrombectomy as soon as possible and within 6 hours of symptom onset, together with intravenous thrombolysis (if within 4.5 hours), to people who have: - acute ischaemic stroke and - confirmed occlusion of the proximal anterior circulation demonstrated by computed tomographic angiography (CTA) or magnetic resonance angiography (MRA)

Answer 146

Urgent neuroimaging classifies the stroke as either ischaemic or haemorrhagic. If the stroke is ischaemic, the patient should be offered thrombolysis with alteplase if they meet the following criteria: - treatment is started as soon as possible within 4.5 hours of onset of stroke symptoms and - the patient has not had a previous intracranial haemorrhage, uncontrolled hypertension, pregnant etc

Answer 147

Investigation Diagnosis: 1st line imaging with a non-contrast CT head Can also have MRI brain

Answer 148

- Involves vertebrobasilar arteries - Presents with 1 of the following: cerebellar or brainstem syndromes loss of consciousness isolated homonymous hemianopia

Answer 149

- Involves perforating arteries around the internal capsule, thalamus and basal ganglia - Presents with 1 of the following: unilateral weakness ( and/or sensory deficit) of face and arm, arm and leg or all three pure sensory stroke ataxic hemiparesis

Answer 150

- Involves smaller arteries of anterior circulation e.g. upper or lower division of middle cerebral artery - 2 of the above criteria are present

Answer 151

Total anterior circulation infarcts - Involves middle and anterior cerebral arteries - All 3 of the above criteria are present Ie Oxford Stroke Classification (also known as the Bamford Classification) The following criteria should be assessed: - unilateral hemiparesis and/or hemisensory loss of the face, arm & leg - homonymous hemianopia - higher cognitive dysfunction e.g. dysphasia

Answer 152

Contralateral homonymous hemianopia Visual agnosia

Answer 153

Contralateral motor/sensory symptoms more pronounced in lower limbs than upper limbs

Answer 154

Contralateral homonymous hemianopia There might be aphasia depending on whether the dominant or non-dominant hemisphere is affected: - The left hemisphere is usually dominant and contains Broca’s and Wernicke’s areas. - Lesion of the superior division of the MCA in dominant side → expressive aphasia (Broca’s aphasia) - Lesion of the inferior division of the MCA in the dominant side → receptive aphasia (Wernicke’s aphasia) - Lesion of the non-dominant MCA → ‘hemineglect syndrome’ → they are not aware of the contralateral side of the body or objects on that side of the body.

Answer 155

. Strokes result from: - Cerebral infarction: secondary to thrombosis or embolus - Primary intracerebral haemorrhage, subarachnoid haemorrhage Risk factors Age Hypertension Smoking Hyperlipidaemia Diabetes mellitus

Answer 156

- Parkinsonism - Vertical gaze (upward or downward gaze) palsy - postural instability e.g. frequent falls

Answer 157

Clinical features • Urge to move one's legs • Associated with sensations of crawling, tingling, or itching on the legs • Symptoms worse during inactivity and are more apparent in the evening Management • Dopamine agonists are first-line treatment (e.g. Pramipexole, ropinirole)

Answer 158

• Antipsychotics – Chlorpromazine, haloperidol • Dopamine receptor antagonist – Metoclopramide Management: Antimuscarinics - Procyclidine, Benzatropine

Answer 159

: • If the motor symptoms are affecting the patient's quality of life: levodopa • If the motor symptoms are not affecting the patient's quality of life: - Dopamine agonist (non-ergot derived) - Monoamine oxidase B (MAO-B) inhibitor - Levodopa - COMT inhibitor • If the patient already is on levodopa but ongoing symptoms: - Dopamine agonist (non-ergot derived) - Monoamine oxidase B (MAO-B) inhibitor - COMT inhibitor

Answer 160

Clinical features • Parkinsonism is characterised by a triad of: - Bradykinesia · Short, shuffling steps with reduced arm swinging · Difficulty in initiating movement - Tremor · ‘Pill-rolling’ tremor - Rigidity · Cogwheel rigidity • Other features: - Mask-like face - Flexed posture - Micrographia - Psychiatric features: depression, dementia, psychosis - Autonomic dysfunction: - Postural hypotension Investigation • Clinical diagnosis

Answer 161

The condition is characterised by a triad of: • Urinary incontinence • Abnormal Gait • Confusion/dementia Investigation • CT/MRI head: hydrocephalus with enlargement of the ventricles Management • Ventriculoperitoneal shunting

Answer 162

Clinical features • Myotonia (tonic spasm of muscle) and muscular atrophy • Frontal balding • Bilateral ptosis • Cataracts • Wasting of the muscles of mastication including the temporalis → hollow cheeks • Weakness of arms and legs • Mental impairment • Dysphagia Complications • Cardiomyopathy • Diabetes

Answer 163

Clinical features The following clinical features are worse after repeated use (at the end of the day, after exercise etc.) and improve with rest • External ocular muscles - diplopia or ptosis, often asymmetrical • Limb weakness - worse at the end of the day. The shoulder girdle is commonly affected - the patient may complain of difficulty in raising their arms above their head • Bulbar - loss of facial expression - patient appears unable to smile and may seem to snarl, inability to whistle, dysarthria, slurring speech, difficulty in chewing and swallowing • Respiratory - shortness of breath

Answer 164

Investigation • Serum anti-acetylcholine receptor antibody testing (90% positive) - If negative, 40% are positive for Anti-muscle specific kinase (anti-MuSK) antibodies • Single fibre EMG – decremental response (92-100% sensitivity) to repetitive nerve stimulation •CT Thorax - to identify the presence of a thymoma (15%) Management • 1st Line: Pyridostigmine (Long-acting acetylcholinesterase inhibitors) • Prednisolone may be used if there is limited benefit from pyridostigmine • Thymectomy

Answer 165

Parkinsonism + autonomic nervous system dysfunction. Characterised by a triad of: Postural hypotension and instability Erectile dysfunction Loss of bladder control/urinary retention

Answer 166

Management - Acute relapse: Corticosteroids - e.g. oral or IV methylprednisolone can be given for 5 days - Disease modifying drugs: - Indication: relapsing-remitting disease + 2 relapses in past 2 years + able to walk 100m unaided secondary progressive disease + 2 relapses in past 2 years + able to walk 10m (aided or unaided) Drug options: Natalizumab - a recombinant monoclonal antibody that antagonises alpha-4 beta-1-integrin found on the surface of leucocytes Ocrelizumab - humanised anti-CD20 monoclonal antibody Fingolimod - sphingosine 1-phosphate (S1P) receptor modulator Symptom control: Fatigue - mindfulness training and CBT Spasticity - baclofen and gabapentin Visual disturbance - Gabapentin

Answer 167

Investigation - MRI brain & spinal cord: High Signal lesions, periventricular plaques - identify demyelinating lesions within the CNS, Dawson fingers - hyperintense lesions penpendicular to the corpus callosum CSF: Oligoclonal bands VEPs (visual evoked potentials) - delayed, but preserved

Answer 168

Clinical features Visual symptoms - Optic neuritis - usually unilateral - Uhthoff's phenomenon: worsening of vision following rise in body temperature - Optic atrophy Autonomic dysfunction - Urinary incontinence - Sexual dysfunction Sensory deficits: - Tingling in restricted distribution, e.g. spreading up a leg over a couple of days and resolving over a couple of weeks - Lhermitte's phenomenon: a sensation like electricity passing down the spine on neck flexion - Trigeminal neuralgia with facial weakness and sensory loss Motor deficits: - Spastic weakness: most commonly seen in the legs Cerebellar : - Ataxia - Tremor

Answer 169

. There are four types of MS: - Clinically isolated syndrome (CIS) - Relapsing-remitting MS acute attacks (e.g. last 1-2 months) followed by periods of remission - Primary progressive MS progressive deterioration from onset - Secondary progressive MS relapsing-remitting patients who have deteriorated and have developed neurological signs and symptoms between relapses

Answer 170

Investigation • Clinical diagnosis Management • Riluzole - Prevents stimulation of glutamate receptors - Used mainly in amyotrophic lateral sclerosis • Respiratory care - Non-invasive ventilation (usually BIPAP) is used at night • Nutrition - Percutaneous gastrostomy tube (PEG) is the preferred way to support nutrition

Answer 171

Clinical features • Asymmetric limb weakness is the most common presentation of ALS - Tripping, difficulty climbing stairs, poor grip strength, dropping things • The mixture of lower motor neuron and upper motor neuron signs - Upper motor neuron signs: · Spasticity, rigidity (hypertonia) · No fasiculations · Hyperreflexia - Lower motor neuron signs: · Hypotonia · Fasiculations · Hypo/areflexia - Wasting of the small hand muscles · The absence of sensory signs/symptoms

Answer 172

: • Amyotrophic lateral sclerosis (ALS) - 50% of cases - UMN signs predominantly affecting the lower limbs, LMN signs predominantly affecting the upper limbs • Primary lateral sclerosis - Affects the UMNs • Progressive Muscular Atrophy (PMA) - Affects LMNs only • Progressive bulbar palsy - Affects the muscles of mastication/swallowing and tongue

Answer 173

Management For the management of an acute attack of migraine: • Combination therapy with an oral triptan and an NSAID, or an oral triptan and paracetamol • For young people aged 12-17 years consider a nasal triptan in preference to an oral triptan • If the above measures are not effective or not tolerated offer a non-oral preparation of metoclopramide or prochlorperazine and consider adding a non-oral NSAID or triptan For prophylaxis: • Topiramate or propranolol are the suggested first-line prophylactic agents. • Topiramate should be avoided in women of childbearing age as it may be teratogenic

Answer 174

Clinical features • The attack may be preceded for several hours by prodromal symptoms - an attack begins with an aura often consisting of bright specks of light - other visual symptoms such as hemianopia, expanding scotoma, constricted visual fields or blindness may occur. Migraine with aura occurs in 25% of migraine patients. • The attack usually lasts 4 - 72 hours • The headache is usually: - Unilateral - Pulsating quality - Moderate or severe pain intensity - Aggravation by or causing avoidance of routine physical activity (e.g., walking or climbing stairs) • During the headache: - Nausea and/or vomiting - Photophobia and phonophobia Investigation • Clinical diagnosis

Answer 175

Management • In primary setting, If meningococcal disease is suspected - give IM/IV Benzylpenicillin • If LP cannot be done within the first hour, IV antibiotics should be given after blood cultures have been taken • IV antibiotics - 3 months - 50 years: BNF recommends cefotaxime (or ceftriaxone) - > 50 years: BNF recommends cefotaxime (or ceftriaxone) + amoxicillin (or ampicillin) for adults • IV dexamethasone (for suspected bacterial meningitis)

Answer 176

Investigation • Blood test • Lumbar puncture, the CSF should be tested for: - Glucose, protein, microscopy and culture - Lactate - Meningococcal and pneumococcal PCR - Enteroviral, herpes simplex and varicella-zoster PCR consider investigations for TB meningitis An LP is contraindicated if: severe sepsis, significant bleeding risk, signs of raised intracranial pressure (focal neurological signs, papilloedema, seizures, GCS ≤ 12

Answer 177

On examination: • Kernig’s sign → the patient lie on their back with their hips and knees bent at 90 degrees. If the patient experiences pain when extending their knee beyond 135 degrees, the test is considered positive. • Brudzinski’s sign → flex pts neck, if this causes involuntary flexion of hip and knees - positive

Answer 178

Aetiology • Viral: - Enteroviruses most common (coxsackie/echovirus groups - Mumps - HSV - EBV - VZV - Measles • Bacterial - Streptococcus pneumoniae · Most common cause in adults - Neisseria meningitidis · MenB is the commonest - Haemophilus influenzae b - Listeria - an important cause in neonates and elderly/immunocompromised patients

Answer 179

Clinical features • Headache • Fever • Non-blanching petechial or purpuric rash - suspicious of meningococcal septicaemia • Photophobia/photophonia • Neck stiffness • Seizure

Answer 180

Clinical features - triad of • Progressive cognitive impairment - cognition may be fluctuating • Parkinsonism • Visual hallucinations Investigation • Clinical • Single-photon emission computed tomography (SPECT) Management • Both acetylcholinesterase inhibitors (e.g. donepezil, rivastigmine) and memantine can be used

Answer 181

Clinical features • Repeated muscle use leads to increased muscle strength - But following prolonged muscle use muscle strength will eventually decrease again • Limb-girdle weakness - lower limbs affected first • Hyporeflexia • Autonomic symptoms: dry mouth, impotence Investigation • EMG → incremental response to repetitive electrical stimulation Management • Treatment of underlying cancer • Immunosuppression, for example with prednisolone and/or azathioprine

Answer 182

Specific syndromes • Cavernous sinus thrombosis: - Periorbital oedema, erythema - Ophthalmoplegia - CN6 affected first then CN3 and CN4 • Lateral/Transverse Sinus thrombosis - CN6 + CN7 Palsies - CT head: Empty delta sign • Lateral sinus thrombosis - 6th and 7th cranial nerve palsies

Answer 183

Investigation • MRI venography is the gold standard • CT venography is an alternative Management • Anticoagulation

Answer 184

Clinical features • Headaches • Altered conscious state • Decreased vision • Nausea and vomiting • Papilloedema • Cranial nerve palsies

Answer 185

Clinical features • Headache • Blurred vision • Papilloedema (usually present) On fundoscopy → the optic discs are swollen with blurred margins. Investigation • CT head • Lumbar puncture

Answer 186

Management • Weight loss • Carbonic anhydrase inhibitors e.g. acetazolamide • Repeated lumbar puncture may be used as a temporary measure • Surgery: optic nerve sheath decompression and fenestration

Answer 187

• GCS < 13 on initial assessment • GCS < 15 at 2 hours post-injury • Suspected open or depressed skull fracture • Any sign of basal skull fracture (haemotympanum, 'panda' eyes, cerebrospinal fluid leakage from the ear or nose, Battle's sign). • Post-traumatic seizure • Focal neurological deficit. • More than 1 episode of vomiting

Answer 188

CT head scan within 8 hours of the head injury (or within 1 hour if presenting >8 hours post injury): • Age 65 years or older • Any history of bleeding or clotting disorders including anticogulants • Dangerous mechanism of injury (a pedestrian or cyclist struck by a motor vehicle, an occupant ejected from a motor vehicle or a fall from a • Height of greater than 1 metre or 5 stairs) • More than 30 minutes' retrograde amnesia of events immediately before the head injury

Answer 189

Clinical features The clinical manifestations of Guillain-Barre syndrome occur within about 3 weeks of the onset of the preceding infection in up to 60% of cases. • Progressive, symmetrical weakness of all the limbs. - The weakness is classically ascending i.e. the legs are affected first - Reflexes are reduced or absent - Sensory symptoms tend to be mild (e.g. distal paraesthesia) with very few sensory signs - There may be a history of gastroenteritis • Respiratory muscle weakness • Cranial nerve involvement e.g. diplopia • Autonomic involvement e.g. urinary retention, diarrhoea

Answer 190

Investigations • Lumbar puncture - Rise in protein with a normal white blood cell count • Nerve conduction studies may be performed - Decreased motor nerve conduction velocity Management • Specific treatment for Guillain-Barre syndrome consists of high-dose intravenous immunoglobulin (IvIg) or plasma exchange - Both treatments have been shown to decrease recovery times if instituted early in the course of the disease

Answer 191

: • Frontotemporal dementia (Pick's disease) - The most common type of frontotemporal degeneration - Characterised by focal gyral atrophy with a knife-blade appearance • Progressive non fluent aphasia (chronic progressive aphasia, CPA) - Non-fluent, halting speech with preserved understanding. • Semantic dementia - Fluent progressive aphasia. The speech is fluent but lacks meaning.

Answer 192

Clinical features • Young age of onset (55 - 65 years) • Insidious onset of personality change • Socially inappropriate behaviours • Decline in social conduct • Emotional blunting • Loss of insight Investigation • Clinical diagnosis based on history, cognitive testing, blood tests, brain imaging - CT/MRI head Management • No medical treatment • Management is based on optimising social care

Answer 193

Clinical features • Signs of raised intracranial pressure • Lucid interval • Initial LOC, followed by an asymptomatic period, followed by deterioration in symptoms Investigation • CT head: Biconvex / lentiform appearance Management • Referral to neurosurgery

Answer 194

Clinical features of injury • Weakness of hip flexion • Weakness of knee extension • Decreased/absent patellar reflex • Wasting of the quadriceps muscles • Loss of sensation in the medial thigh and antero-medial calf

Answer 195

Clinical features • Worsening cognitive impairment • Progressive memory loss Investigation • Clinical diagnosis • Assessment must rule out reversible causes of cognitive impairment • CT/MRI head - rule out causes such as subdural haematoma, normal pressure hydrocephalus

Answer 196

Management • Cognitive stimulation therapy for patients with mild and moderate dementia • First-line: acetylcholinesterase inhibitors - donepezil, galantamine and rivastigmine • Second-line: memantine (an NMDA receptor antagonist)

Answer 197

Management • All patients should receive oral prednisolone within 72 hours of onset of Bell's palsy - a short, rapidly tapered course of high dose prednisolone • Protection of the eye - lubricant eye drops, if unable to close the eye at bedtime, they should tape it closed

Answer 198

Bell’s palsy Acute, sudden onset, unilateral facial paralysis. It is a lower motor neurone palsy usually diagnosed by exclusion. Bell's palsy was previously considered as an idiopathic lower motor neurone nerve palsy but there has been increasing evidence to suggest that the main cause of Bell's palsy is latent herpes viruses (herpes simplex virus type 1 and herpes zoster virus), which are reactivated from cranial nerve ganglia.

Answer 199

Brain abscess An abscess within the brain tissue caused by inflammation and collection of infected material coming from local source (otitis media, dental abscess, sinusitis etc.)

Answer 200

Investigation • CT head Management • Surgery - craniotomy with debridement • IV Cephalosporin (ceftriaxone) + Metronidazole

Answer 201

Brain territories - localising signs Frontal lobe • Expressive dysphagia - Broca’s area • Motor cortex dysfunction • Personality change, disinhibition, apathy, problems with planning, judgement • Anosmia • Grasp reflex (primitive reflex - person will reflexively grasp any object placed in their hand)

Answer 202

: Dominant hemisphere lesions: • Wernicke's speech area - receptive dysphasia • Gerstmann's syndrome - inability to distinguish: fingers, right from left, calculations • Dyslexia Non-dominant hemisphere lesions: • Neglect of contralateral limb • Anosognosia - denial of weakness • Spatial neglect • Disappreciation of three dimensional sense - dressing dyspraxia, constructional dyspraxia • Geographical agnosia - e.g. unable to find defined places

Answer 203

Temporal lobe • In the dominant hemisphere - Wernicke's aphasia • In the non-dominant hemisphere - amusia (muscial impairment) • Auditory hallucinations

Answer 204

Occipital lobe • Homonymous haemianopia

Answer 205

Cerebellum • Intention tremor • Past pointing • Dysdiadochokinesia • Nystagmus

Answer 206

Clinical features • Pins and needles + pain on the thumb, index and middle finger • Shaking the hand provides relief • Pain classically occurs during the night • On examination: - Weakness of thumb abduction (abductor pollicis brevis) - Wasting of the thenar eminence - Tinel's sign: tapping the skin over the nerve causes paraesthesia - Phalen's sign: flexion of wrist causes symptoms

Answer 207

Investigation • Electrophysiology Management • 6 week trial of conservative treatment including corticosteroid injections • If severe/ongoing symptoms → surgery → flexor retinaculum division

Answer 208

Clinical features There are two clinically distinct types of charcot-marie-tooth disease: Type I: • A demyelinating sensorimotor neuropathy • Early onset, typically in the first decade • Presentation with walking difficulties and pes cavus • Associated deformities include eqinovarus foot and kyphoscoliosis • Wasting occurs: - Distally before proximally - In the legs before the arms • Distal wasting may produce the classical inverted champagne bottle deformity • There is generalised areflexia

Answer 209

Type 2: • An axonal sensorimotor neuropathy • Later onset, in the second decade or later • Weakness and wasting are less marked • Usually there is areflexia in the legs only • Structural deformities are less common Management • There is no cure, and management is focused on physical and occupational therapy.

Answer 210

Investigation • Cluster headache is a clinical diagnosis • Patients can have imaging to look for underlying brain lesions - MRI with gadolinium contrast is the investigation of choice Management • Acute treatment - Offer oxygen and/or a subcutaneous or nasal triptan for the acute treatment of cluster headache - Use 100% oxygen at a flow rate of at least 12 litres per minute for 15 minutes with a non-rebreathing mask and a reservoir bag and • Prophylaxis - Verapamil is the drug of choice

Answer 211

Clinical features • Very intense pain, described as excruciating • The headache is maximal orbitally, supraorbitally, temporally or in any combination of these sites, but may spread to other regions • Patients are usually unable to lie down, and characteristically pace the floor • Pain usually recurs on the same side of the head during a single cluster period • Pain typical occurs once or twice a day, each episode lasting 15 mins - 2 hours • Clusters typically last 4-12 weeks • Accompanied by redness, lacrimation, lid swelling • Nasal stuffiness

Answer 212

Investigation • MRI of the cervical spine - gold standard Management All patients with degenerative cervical myelopathy should be urgently referred for assessment by specialist spinal services (neurosurgery or orthopaedic spinal surgery) for decompressive surgery. • Early treatment (within 6 months of diagnosis) offers the best chance of a full recovery

Answer 213

Clinical features • Upper motor neuron signs—weakness, spasticity, clumsiness, altered tonus, hyperreflexia and pathological reflexes, including Hoffmann's sign and inverted plantar reflex (positive Babinski sign) • Lower motor neuron signs—weakness, clumsiness in the muscle group innervated at the level of spinal cord compromise, muscle atrophy, hyporeflexia, muscle hypotonicity or flaccidity, fasciculations • Neck pain and stiffness - Due to degenerative joint disease • Sensory deficits • Bowel/bladder symptoms and sexual dysfunction

Answer 214

Clinical features • Fever • Headache • Seizures • Vomiting • Focal neurological features e.g. aphasia

Answer 215

Investigation • Lumbar puncture, CSF analysis will show: - Lymphocytosis - Elevated protein - PCR should be sent for HSV, VZV and enteroviruses • MRI head - Shows inflammation of the frontal and temporal lobes Management • IV aciclovir - Should be started in all cases of suspected encephalitis

Answer 216

• Affect a specific region on one side of the brain • Features depend on the region of the brain affected: - Frontal lobe = Motor features eg. posturing/movements - Parietal lobe = Sensory features - paraesthesia - Occipital = Visual - floaters/flashes - Temporal = Hallucinations, emotions • Consciousness remains intact, but awareness can vary: - Focal aware - Focal impaired awareness - Awareness unknown A focal seizure can progress to become a generalised seizure.

Answer 217

Generalised seizures: • Involve regions of both sides of the brain • Consciousness lost • Can be classified as motor (tonic-clonic, tonic, clonic) or non-motor (absence seizure - petit mal)

Answer 218

Investigation and management: • Antiepileptics are started following a second epileptic seizure. • NICE guidelines suggest only starting antiepileptics after the first seizure if - the patient has a neurological deficit, brain imaging shows a structural abnormality, or the EEG shows unequivocal epileptic activity

Answer 219

Generalised tonic-clonic seizures • Males: sodium valproate • Females: lamotrigine or levetiracetam - Sodium valproate is teratogenic and must be avoided in women of child-bearing age Focal seizures • First line: lamotrigine or levetiracetam • Second line: carbamazepine, oxcarbazepine or zonisamide

Answer 220

Absence seizures (Petit mal) • First line: ethosuximide • Second line: - Male: sodium valproate - Female: lamotrigine or levetiracetam - Carbamazepine may exacerbate absence seizures Myoclonic seizures • Males: sodium valproate • Females: levetiracetam Tonic or atonic seizures • Males: sodium valproate • Females: lamotrigine

Answer 221

Anti-epileptic drugs and their side-effects: • Phenytoin - Peripheral neuropathy - Megaloblastic anaemia - Gingival hyperplasia - Hepatitis - Phenytoin is Teratogenic • Sodium Valproate - Alopecia - Liver – Hepatotoxicity - Pancreatitis/Pancytopenia - Weight gain - Tremor - Sodium valproate is also teratogenic • Carbamazepine - Blurred vision – Diplopia - Agranulocytosis - Autoinduction - the commencement of carbamezapine can exacerbate seizures for the first 3-4 weeks of use - SIADH - hyponatraemia • Levetiracetam - Weight changes - Anorexia - Diarrhoea - Anxiety

Answer 222

Clinical features • Signs of raised intracranial pressure • Lucid interval • Initial LOC, followed by an asymptomatic period, followed by deterioration in symptoms Investigation • CT head: Biconvex / lentiform appearance Management • Referral to neurosurgery

Answer 223

Classification • Acute subdural haematoma - most commonly caused by high-impact trauma.• Chronic subdural haematoma - a collection of blood within the subdural space that has been present for weeks to months. Rupture of the small bridging veins within the subdural space rupture and cause slow bleeding. Elderly and alcoholic patients are particularly at risk of subdural haematomas since they have brain atrophy and therefore fragile or taut bridging veins. Investigation • CTH → crescentic collection, not limited by suture lines. They will appear hyperdense (bright) in comparison to the brain. Large haematomas can cause a midline shift. Management • Referral to neurosurgery

Answer 224

Clinical features • Vertigo • Progressive sensorineural hearing loss • Tinnitus • Absent corneal reflex. Features can be predicted by the affected cranial nerves: • Facial palsy Investigation • MRI of the cerebellopontine angle Management • Urgent referral to ENT Quick

Answer 225

Management • For mild cases → oral prochlorperazine e.g. cyclizine • More severe cases → buccal or intramuscular prochlorperazine • For chronic cases → vestibular rehabilitation exercises Vestibular neuritis Inflammation of the vestibular nerve.

Answer 226

Investigation The CENTOR criteria or FeverPAIN are the two scoring systems used to determine the risk of group A streptococcal infection, and therefore the requirement for antibiotics.

Answer 227

The Centor criteria are: score 1 point for each (maximum score of 4) • Presence of tonsillar exudate • Tender anterior cervical lymphadenopathy or lymphadenitis • History of fever • Absence of cough The FeverPAIN criteria are: score 1 point for each (maximum score of 5) • Fever over 38°C. • Purulence (pharyngeal/tonsillar exudate). • Attend rapidly (3 days or less) • Severely Inflamed tonsils • No cough or coryza

Answer 228

Clinical features • Facial pain, worse on leaning forward • Nasal discharge: thick and purulent • Nasal obstruction • Fever • On examination, pain on palpation of the sinuses

Answer 229

Management • Conservative Mx for most patients - usually resolves spontaneously within 2-3 weeks • Symptoms > 10 days: - Consider a high-dose nasal corticosteroid (mometasone) • If bacterial rhinosinusitis is suspected (non-resolving symptoms, fever >38, elevated inflammatory markers), or the patient is systemically very unwell, prescribe antibiotics such as phenoxymethylpenicillin • Chronic sinusitis (>12 weeks) - Intranasal corticosteroids for up to 3 months (mometasone/fluticasone)

Answer 230

Rinne and Weber’s tests for hearing loss Rinne’s test A vibrating tuning fork is placed on the mastoid process When the sound can no longer be heard at the mastoid, place the fork next to the ear If the sound can be heard again at the ear, it signifies air conduction is greater than bone conduction → either a normal test or a sensorineural hearing loss. If the noise can no longer be heard at the ear (but was heard at the mastoid) then bone conduction is greater than air conduction → conductive hearing loss.

Answer 231

Following this, perform Weber’s test Weber’s test Place a tuning fork in the center of the forehead Ask the patient to say in which ear the noise is louder If the noise is equal in both ears → either a normal test or a bilateral hearing loss If the noise is louder in one ear → either a sensorineural hearing loss on the contralateral side (the quiet side) or a conductive hearing loss on the ipsilateral side (the loud side). In summary Normal hearing: Rinne’s test is positive (normal) and Weber’s does not localise Conductive hearing loss: Rinne’s test shows bone > air (abnormal) and localises towards the abnormal ear

Answer 232

Unilateral sensorineural hearing loss: Rinne’s test is positive (normal) and Weber’s test localises awry from the affected ear (louder in the normal ear) Bilateral sensorineural hearing loss: Rinne’s test is positive (normal) and Weber’s does not localise

Answer 233

. Clinical features • Acute LMN facial nerve palsy - causes facial droop involving muscles of the forehead • Auricular pain • A painful vesicular rash within the ear canal and mucuous membrane of the oropharnyx • Tinnitus, vertigo, hyperacusis • Preceding flu-like illness Management • Oral aciclovir and corticosteroids

Answer 234

. Clinical features • Systemically unwell • Sore throat • Trismus, muffled voice • Uvular deviation away from the quinsy • Hallitosis Investigation • Clinical diagnosis Management • IV antibiotics • Needle aspiration/incision & drainage

Answer 235

Clinical features • Progressive, bilateral sensorineural hearing loss • High-frequency hearing affected - conversational difficulties • Age > 50-60 yrs • Otoscopy - normal

Answer 236

Clinical features • Conductive deafness • Tinnitus • On examination → tympanic membrane has a flamingo tinge Management • Hearing aid

Answer 237

Clinical features • Hearing loss —> leading to delays in speech/language development/poor progress in school • On examination: - Yellow discolouration of the tympanic membrane - Air/fluid level Investigation • Pneumatic otoscopy • Tympanometry Management • Active observation for 3 months as spontaneous resolution is common • Surgical → grommet insertion

Answer 238

Clinical features • Otalgia • Fever • Hearing loss • Recent viral URTI symptoms • Ear discharge - indicates perforation of the tympanic membrane • On examination with otoscopy: - Bulging tympanic membrane with loss of light reflex - Erythema of the tympanic membrane - Perforation with purulent otorrhoea

Answer 239

Investigation • Clinical diagnosis Management Otitis media is a self-limiting illness, does not usually require antibiotics, unless: • Symptoms lasting more than 4 days • Systemically unwell • Immunocompromise or high risk of complications • Younger than 2 years with bilateral otitis media • Otitis media with perforation (discharge in the canal) First-line antibiotics: Amoxicillin for 5-7 days

Answer 240

Clinical features • Ear pain • Itchiness of the ear • Ear discharge • Otoscopy: red, swollen external auditory canal Chronic otitis externa - itching of the ear canal for > 3 months Management • Topical antibiotics +/- topical corticosteroid for 1-2 weeks • If fails to respond to topical antibiotics then the patient should be referred to ENT

Answer 241

Management Topical corticosteroids can shrink the size of the polyps Indications for an ENT 2WW referral • Bloody otorrhoea • Age > 45 with unexplained hoarseness • Unilateral nasal obstruction or bleeding • Oral lesion > 3 weeks /erythroleukoplakia • Unexplained neck lump • Unexplained persistent sore throat (> 4 wks) • Unilateral polyp

Answer 242

Management • Referral to ENT to confirm the diagnosis • Treatment of acute eoisodes: buccal or intramuscular prochlorperazine • Prophylaxis → betahistine and vestibular rehabilitation exercises may be of benefit

Answer 243

Clinical features • Severe otalgia • Smelly, purulent discharge • On examination: - Conductive hearing loss - Facial nerve palsy on affected side - Otoscopy: Granulation tissue within the external auditory meatus Investigation • CT scan Management • Urgent referral to ENT • Intravenous antibiotics that cover pseudomonal infections

Answer 244

Clinical features • Vertigo • Hearing loss • Nausea and vomiting • Tinnitus • May have history of upper respiratory tract infection Management • Self-limiting

Answer 245

• On examination: - Pyrexia - Palatal petechiae - Splenomegaly - occurs in 50% of patients - Blood test: · Hepatitis, transient rise in ALT · Lymphocytosis · Haemolytic anaemia secondary to cold agglutins (IgM) Investigation • Heterophil antibody test (Monospot test) • In the 2nd week of illness Management • Supportive management • Avoid contact sport for 4 weeks due to risk of splenic rupture

Answer 246

Investigation • Clinical diagnosis Management • Refer to ENT - management with topical antibiotics (quinolones - ciprofloxacin) and steroids.

Answer 247

Clinical features • A change in head position triggers vertigo such as rolling over in bed • Each episode typically lasts < 30 seconds • On examination: - Positive Dix-Hallpike manoeuvre → lowering the patient to the supine position with an extended neck recreates the symptoms of BPPV Management • Epley manoeuvre • Vestibular rehabilitation exercises • Medication → Betahistine → limited benefit

Answer 248

Clinical features • Sneezing • Nasal obstruction • Clear discharge • Frequently associated with allergic conjunctivitis - itchy eyes Management • Mild-to-moderate symptoms → oral or intranasal antihistamines (e.g. cetirizine) • Moderate-to-severe symptoms → intranasal corticosteroids

Answer 249

• On examination: - Pyrexia - Tenderness over the mastoid antrum - The pinna may be pushed down and forward due to a swelling in the post-auricular region. - The tympanic membrane is either red and bulging or perforated - Signs of conductive deafness Investigation • CT Management • IV antibiotics and may require surgery - cortical mastoidectomy

Answer 250

• Very painful red eye • Pain is worse on eye movements • Reduced visual acuity Management • Same-day assessment by an ophthalmologist • Oral NSAIDs

Answer 251

Clinical features • Night blindness • Tunnel vision due to progressive peripheral visual field loss • Photopsias (flashes of light) • Difficulty with dark adaptation • Fundoscopy: Black bone spicule-shaped pigmentation predominantly affecting the peripheral retina, ring scotoma Management • There is no cure for retinitis pigmentosa • Supportive Care e.g. visual aids • Monitoring: for disease progression.

Answer 252

Clinical features - Loss of vision - described as a dark shadow/curtain, which moves from the periphery to the centre of the visual axis. - Visual impairment can also be described as dots or cobwebs Painless - Can be preceded by photopsias, flashes of light, floaters (Symptoms of vitreous detachment may precede retinal detachment by minutes or years). - Fundoscopy - pale, opaque retina often with loss of the normal choroidal pattern

Answer 253

Superficial infection anterior to the orbital septum, which is caused by a superficial tissue injury due to e.g. chalazion or insect bite. The condition presents similarly to orbital cellulitis but reduced visual acuity, proptosis and eye pain with movements are NOT present in preseptal cellulitis.

Answer 254

Clinical features • Recent history of sinusitis/URTI • Red swelling around the eye • Severe ocular pain, worse on eye movement • Visual disturbance • On examinaytion: - Afferent pupillary defect - Proptosis - Oedema and erythema around the eye Investigation • CT with contrast Management • Admission • Urgent ophthalmology review • IV antibiotics

Answer 255

Clinical features • Unilateral visual loss over hours - days • Pain, worse on eye movement • On examination: - Relative afferent pupillary defect - Central scotoma - Impaired colour vision - Optic disc swelling (papilloedema) Investigation • MRI of the brain and orbits with gadolinium contrast is diagnostic in most cases Management: • High-dose steroids

Answer 256

Bacterial keratitis Aetiology: • Staphylococcus spp. • Pseudomonas spp. • Streptococcus spp. Clinical features: • A painful red eye • Photophobia • Foreign body, gritty sensation • Mucopurulent discharge • On examination → a hypopyon is visualised Management: • Stop contact lenses • Topical antibiotics • Quinolones • Steroids

Answer 257

Viral keratitis Aetiology: • Herpes Simplex Virus (HSV) • Varicella Zoster Virus (VZV). Clinical Features: • Clear discharge • Painful red eye • Photophobia • Tearing of the eye • On examination: - A fixed, irregular pupil - Eyelid erythema with crops of vesicles - Cloudy cornea - Dendritic ulcers

Answer 258

Investigation: • Fluorescein staining → dendritic ulcer (branching lesions) • Slit lamp examination → vesicular corneal lesions Management: • Urgent, same day specialist assessment • Topical/ oral antivirals

Answer 259

On examination: • Optic disc swelling with a pale-’chalky-white’ retina • Relative afferent pupillary defect Management: • For anterior ischaemic optic neuropathy → urgent treatment of GCA with prednisolone 60mg and closely assessing response • For posterior ischaemic optic neuropathy → little treatment available except treating the underlying cause

Answer 260

Posterior (non-arteritic) ischaemic optic neuropathy Caused by systemic hypoperfusion e.g. post surgery, hypotension Presents with sudden, painless loss of vision first noticed on waking

Answer 261

Anterior (arteritic) ischaemic optic neuropathy Associated with giant cell arteritis (GCA) Presents with painless loss of vision + symptoms of GCA → scalp pain worse on touch/chewing/shaving, headache, jaw clawdication, features of polymyalgia rheumatica

Answer 262

Hordeola (stye) An acute, localised inflammation of the eyelid margin which is commonly caused by Staph aureus infection of either a meibomian gland (internal) or eyelash follicle. Clinical features • Unilateral swelling adjacent to the eyelid margin. • Develops over a few days • Can be painful • Eyelid swelling and

Answer 263

Holmes-Adie pupil A condition of unknown aetiology which leads to a dilated pupil A dilated pupil which does not respond to light and responds slowly to accommodation Associated with absent knee and ankle jerk reflexes

Answer 264

Clinical features Vesicular rash around the eye Hutchinson's sign → rash on the tip or side of the nose. A strong risk factor for ocular involvement Management Oral antiviral treatment for 7-10 days, to be started within 72 hours

Answer 265

On examination • Peripheral visual field loss - nasal scotomas progressing to 'tunnel vision' • Fundoscopy findings: - Optic disc cupping - Optic disc pallor - Bayonetting of vessels - Cup notching, haemorrhages

Answer 266

Investigation • Applanation tonometry to measure IOP and confirm diagnosis Management • First-line: 360° selective laser trabeculoplasty (SLT) to people with an IOP of ≥ 24 mmHg • Second-line: prostaglandin analogue (PGA) eyedrops • Other treatment options: - Beta-blocker eye drops - Carbonic anhydrase inhibitor eye drops - Sympathomimetic eye drops

Answer 267

• On examination: - Semi-dilated, non-reacting pupil - Hazy cornea - Pupil fixed in an oval shape - Acruate scotoma

Answer 268

Management: • Urgent referral to ophthalmology • A combination: - Pilocarpine - a parasympathomimetic which improves aqueous flow - Timolol - a beta blocker which reduces aqueous flow production - Apraclonidine - an alpha-2 agonist which decreases aqueous humour production and increasing uveoscleral outflow - IV acetazolamide - reduces aqueous humour production • Definitive management - laser peripheral iridotomy

Answer 269

Clinical features • Red eye • NOT painful (unlike scleritis) • Lacrimation and photophobia • On examination: - Normal pupillary reflexes - Vision is normal

Answer 270

Investigation • Phenylephrine drops may be used to differentiate between episcleritis and scleritis - If the eye redness improves after phenylephrine a diagnosis of episcleritis can be made Management • Conservative

Answer 271

Management: Topical lubricants, botox injections, definitive treatment with surgery Ectropion → outward turning of the eyelid.

Answer 272

Clinical features • Presents within 1 week of eye surgery → a painful red eye (with hazy cornea), discharge and impaired visual acuity Management • Urgent referral to ophthalmology • Treatment options include systemic and intravitreal antibiotics.

Answer 273

Non-proliferative diabetic retinopathy • Mild NPDR → 1 or more microaneurysm • Moderate NPDR: - Microaneurysms - Blot haemorrhages - Hard exudates - Cotton wool spots, venous beading/looping and intraretinal microvascular abnormalities (IRMA) • Severe NPDR - Blot haemorrhages and microaneurysms in 4 quadrants - Venous beading in at least 2 quadrants - IRMA in at least 1 quadrant

Answer 274

Proliferative diabetic retinopathy • Retinal neovascularisation - may lead to vitrous haemorrhage • Fibrous tissue forming anterior to retinal disc

Answer 275

Clinical features • A reduction in visual acuity (slow in dry ARMD, more rapid in wet ARMD) • Blurred vision • Deterioration in vision at night • Photopsia (flickering or flashing lights), glare around objects, metamorphopsia ( straight lines appear wobbly) • Visual hallucinations → Charles-Bonnet syndrome • On examination: - Drusen (yellow areas of pigment in the macular area) · Macular changes

Answer 276

Clinical features • A reduction in visual acuity (slow in dry ARMD, more rapid in wet ARMD) • Blurred vision • Deterioration in vision at night • Photopsia (flickering or flashing lights), glare around objects, metamorphopsia ( straight lines appear wobbly) • Visual hallucinations → Charles-Bonnet syndrome • On examination: - Drusen (yellow areas of pigment in the macular area) · Macular changes

Answer 277

Classification • Dry macular degeneration (90% of cases) - Characterised by drusen - yellow round spots in Bruch's membrane • Wet macular degeneration (10% of cases) - Characterised by choroidal neovascularisation - Worse prognosis Risk factors • Increasing age - the most important risk factor • Smoking

Answer 278

Investigation • Slit-lamp microscopy - the initial investigation of choice - to identify retinal changes • Optical coherence tomography • Fluorescein angiography Management • Dry ARMD - Smoking cessation - Nutritional supplementation with zinc with anti-oxidant vitamins A,C and E • Wet ARMD - Intravitreal anti-vascular endothelial growth factor (VEGF) injections

Answer 279

. Clinical features • Acute onset of a painful red eye • Photophobia • Blurred vision • Visual acuity impaired • Increased lacrimation • On examination: - Pupil may be small and irregular - Ciliary flush - a ring of red spreading outwards - Hypopyon - a visible fluid level in the anterior chamber

Answer 280

Management • Urgent same-day review by ophthalmology • Cycloplegics e.g. Atropine, cyclopentolate to dilate the pupil • Steroid eye drops

Answer 281

Clinical features • Bilateral grittiness and discomfort around the eyelid margins • Eyes are sticky in the morning • Eyelid margins may be red • Associated with styes and chalazions Management • Hot compressors, hygiene measures, mechanical removal of debris

Answer 282

Investigations • Slit lamp examination to visualise the cataract Management • Phacoemulsification surgery

Answer 283

Clinical features • Sudden, painless unilateral visual loss • Relative afferent pupillary defect • On examination: - Fundoscopy → 'cherry red' spot on a pale retina Management • Treat the underlying cause • Urgent referral to ophthalmology for same-day assessment

Answer 284

Clinical features • Sudden, painless unilateral loss of vision, may be partial or complete. • On examination: - Fundoscopy → retinal haemorrhages, dilated tortuous veins, and cotton-wool spots Management • The majority of patients are managed conservatively

Answer 285

Chalazion A sterile, inflammatory granuloma which is caused by the obstruction of the sebaceous meibomian glands. Clinical features A firm swelling on the eyelid painless Takes few weeks to develop On examination: a swollen, erythematous eyelid Management Warm compress Chalazions usually self-resolve spontaneously within a few weeks

Answer 286

- Hyperaemia, oedema, dilatation of the conjunctival vessels Management: • First-line: topical or systemic antihistamines • Second-line: topical mast-cell stabilisers, e.g. azelastine

Answer 287

• Bilateral conjunctival erythema • Gritty sensation • Discharge - Often purulent with crusting in bacterial conjunctivitis - Less discharge which is watery in viral conjunctivitis

Answer 288

Management: • Viral conjunctivitis - Reassurance - treatment not required • Bacterial conjunctivitis - No treatment, most cases self-resolve within 1 week, - Consider topical antibiotics e.g. chloramphenicol if severe symptoms

Answer 289

Clinical features The condition leads to development of multiple gastro-duodenal ulcers. • Chronic diarrhea, including steatorrhea • Malabsorption • Epigastric pain • Nausea and vomiting Investigation Diagnosis is made on the basis of: • High fasting plasma gastrin • High gastric acid secretion: - Usually in excess of 100 mmol/h • Secretin stimulation test Management • PPIs and ant-acids to slow down gastric acid secretion • Surgery can be considered to remove the peptic ulcers and tumours

Answer 290

. Clinical features First phase, lasts around a week • Fever • Flu-like symptoms • Subconjunctival redness/haemorrhage Second immune phase may lead to more severe disease (Weil's disease) • Acute kidney injury • Hepatitis: jaundice, hepatomegaly • Aseptic meningitis Investigation • Serology: antibodies to Leptospira develop after about 7 days • Blood culture Management • High-dose benzylpenicillin or doxycycline

Answer 291

- Nausea - Vomiting - Weight loss - Reflux - Dyspepsia - Upper abdominal pain - Nausea or vomiting with any of the following: · Weight loss · Reflux · Dyspepsia · Upper abdominal pain

Answer 292

• Dysphagia • Aged 55 and over with weight loss and any of the following: - Upper abdominal pain - Reflux - Dyspepsia Consider non-urgent, direct access upper gastrointestinal endoscopy to assess for oesophageal cancer in people with: • Haematemesis

Answer 293

Pathophysiology: The pathogenesis of ulcerative colitis is multifactorial - a combination of genetic predisposition, dysregulation of the immune system, and environmental factors. Research suggests the inflammation in UC is driven by defects in the epithelial and mucosal barrier of the large bowel, however the exact cause of this is unknown and research is ongoing in this field.

Answer 294

Clinical features: • Bloody diarrhoea • Urgency to open bowels • Tenesmus • Abdominal pain • Extra-intestinal manifestations: - Inflammatory arthritis - Erythema nodosum - Pyoderma gangrenosum - Uveitis Investigation: • Faecal calprotectin (white cell marker in adults) - raised in IBD • Gold-standard investigation - colonoscopy with biopsy - Shows widespread, continuous inflammation which starts in the rectum and may spread proximally and it does not extend beyond the submucosa. - Histology findings may include crypt distortion, acute inflammatory changes of cryptitis, crypt abscesses, and infiltrative changes. • Barium enema - shows loss of haustrations, formation of pseudopolyps

Answer 295

Management: All patients with ulcerative colitis need to be referred to a specialist to start specialist management. The management of UC differs based on the severity of the condition, and whether this is a flare-up or chronic management. Truelove and Witts' severity index for assessing severity of ulcerative colitis in adults: • Mild: <4 bowel motions a day, and patient is systemically well • Moderate: 4 - 6 bowel motions a day, and patient is systemically well • Severe: >6 bowel motions a day, with at least one feature of systemic upset - pyrexia, tachycardia, anaemia, raised ESR. Specialist drug treatments for ulcerative colitis are generally given for induction and maintenance of remission. Options for individualised treatment are:

Answer 296

• Aminosalicylates — mesalazine and sulfasalazine may be considered for a mild-to-moderate first presentation or inflammatory exacerbation of ulcerative colitis. These drugs are also effective at maintaining remission. They are often prescribed topically (suppository or enema) initially, and orally if remission is not achieved. For extensive disease, topical and high-dose oral treatment may be offered first-line. • Corticosteroids — monotherapy with a time-limited course of corticosteroids may be used for induction of remission if aminosalicylates are ineffective or not tolerated, with the aim to gradually taper the dose according to disease severity and the person's response to treatment . They should not be used to maintain clinical remission due to the risk of multiple adverse effects with long-term use.

Answer 297

• Ciclosporin — may be used for acute severe disease, especially if intravenous corticosteroids are not effective, contraindicated, or not tolerated. Severe presentation of UC (> 6 bowel motions a day) treated with IV steroids in hospital. • If after 72 hours there has been no improvement, consider adding IV ciclosporin to IV corticosteroids or consider surgery • Ciclosporin — may be used for acute severe disease, especially if intravenous corticosteroids are not effective, contraindicated, or not tolerated. Severe presentation of UC (> 6 bowel motions a day) treated with IV steroids in hospital. • If after 72 hours there has been no improvement, consider adding IV ciclosporin to IV corticosteroids or consider surgery

Answer 298

Investigation • Blood test → deranged LFTs, raised bilirubin, p-ANCA positive • Endoscopic retrograde cholangiopancreatography (ERCP) or magnetic resonance cholangiopancreatography (MRCP) are the standard diagnostic investigations - Showing multiple biliary strictures giving a 'beaded' appearance Complications: • Cholangiocarcinoma

Answer 299

Clinical features Typically presents in a female, middle-aged patient. • Fatigue • Pruritus • Cholestatic jaundice •Xanthelasmas, xanthomata Investigation • Anti-mitochondrial antibodies (AMA) - positive in 98% of PBC patients. Management • Ursodeoxycholic acid - first line treatment • Cholestyramine - used for pruritis

Answer 300

Triad of: Dysphagia (secondary to oesophageal webs) Glossitis Iron-deficiency anaemia Management: Medically - iron supplementation Surgically - oesophagogastroduodenoscopy with dilatation

Answer 301

Clinical features • Dysphagia • Halitosis • Chronic cough • Neck swelling in the midline which gurgles • Regurgitation Investigation • Barium swallow Management • Surgery

Answer 302

Investigation • Blood test shows: - Macrocytic anaemia - Hypersegmented polymorphs on blood film - Low WCC and platelets • Low vitamin B12 and folate levels • Anti intrinsic factor antibodies: sensivity is only 50% but highly specific for pernicious anaemia (95-100%) - Anti gastric parietal cell antibodies in 90% but low specificity so often not useful clinically Management • IM vitamin B12 replacement • Folate replacement may also be required

Answer 303

Clinical features • Painless jaundice • Pale stools, dark urine • Weight loss • Features of diabetes → polyuria, polydipsia • On examination: - Epigastric mass • Courvoisier's law: in the presence of painless obstructive jaundice, a palpable gallbladder is unlikely to be due to gallstones Investigation • High-resolution CT abdomen scan - gold standard • Tumour marker → Ca19-9 Management • Whipple's resection (pancreaticoduodenectomy) is performed for resectable lesions in the head of pancreas.

Answer 304

Pathophysiology Liver cirrhosis leads to obstruction of the portal blood flow due to an increase in the intrahepatic vascular resistance. This increases the pressure in the portal circulation. Once portal hypertension develops, it influences extrahepatic vascular beds in the splanchnic and systemic circulations, causing collateral vessel formation and arterial vasodilation. These portosystemic collaterals divert blood from the portal venous system to the inferior and superior vena cava. At the same time, one important system is the gastroesophageal collaterals that drain into the azygos vein and lead to the development of esophageal varices. When these varices get enlarged, they rupture producing severe haemorrhage. Bleeding from esophageal varices is the third most common cause of upper GI bleeding, after duodenal and gastric ulcers.

Answer 305

Investigation All patients with acute upper GI bleeding should have an upper GI endoscopy within 24 hours Management Acute management • Stabilising the patient with ABC approach • Terlipressin - used for initial haemostasis and preventing rebleeding • Prophylactic antibiotics should be offered to all liver cirrhosis patients with an upper GI bleed - quinolone antibiotics are used • Terlipressin and antibiotics should be given prior to endoscopy • All patients with acute upper GI bleeding should have an upper GI endoscopy within 24 hours → management with endoscopic variceal band ligation • Transjugular Intrahepatic Portosystemic Shunt (TIPSS) if endoscopy fails Prophylaxis • Propranolol - Reduces rebleeding and mortality

Answer 306

Clinical features • Dysphagia • Odynophagia • White patches on the tongue and/or mouth Investigation • Clinical diagnosis Management • Fluconazole

Answer 307

Clinical features • Dysphagia • Weight loss • Vomiting • Heartburn • Odynophagia • Voice hoarseness Investigation • Gold standard - upper GI endoscopy • CT of chest, abdomen and pelvis used for staging Management • Surgical resection if operable

Answer 308

Clinical features Triad of: • Chronic watery diarrhoea • Normal mucosal appearance on colonoscopy • Characteristic histological changes in the mucosal biopsy: - Lymphocytic infiltration in the lamina propria with intraepithelial lymphocytosis - when this is marked the disease may be termed lymphocytic colitis - Variable thickening of the subepithelial collagen layer - when fibrosis is marked the disease may be termed collagenous colitis

Answer 309

Clinical features A diagnosis of IBS in primary care if abdominal pain or discomfort has been present for at least 6 months and: • Is either relieved by defecation or associated with altered bowel frequency (increased or decreased), or stool form (hard, lumpy, loose, or watery) and: • Is accompanied by at least two of the following symptoms: - Altered stool passage (straining, urgency, incomplete evacuation). - Abdominal bloating (more common in women than men), distension, tension or hardness. - Made worse by eating. - Passage of rectal mucus.

Answer 310

Investigation IBS is a clinical diagnosis based on symptom presentation • Ensure investigations conducted to exclude differentials e.g. coeliac screen Management The management of irritable bowel syndrome (IBS) should be individualized to the person's symptoms and psychosocial situation. • Dietary and lifestyle advice: • Advise the person to eat regular meals with a healthy, balanced diet • Regular physical activity and discuss weight management if the person is overweight or obese. - If predominant symptoms of diarrhoea → to reduce insoluble fibre - If predominant symptoms of constipation → to increase soluble fibre supplements • If the above advice is ineffective, then to refer to specialist care for a trial of exclusion diet - Low FODMAP (fermentable oligosaccharides, disaccharides, monosaccharides, and polyols) diet. • Medical management: - If symptoms of constipation: · Bulk-forming laxative - If symptoms of severe constipation persist for at least 12 months despite laxatives, consider a trial of the secretory drug linaclotide - If symptoms of diarrhoea · An antimotility drug, such as loperamide - If symptoms of abdominal pain · An antispasmodic drug such as mebeverine hydrochloride - If an antispasmodic is ineffective, consider a trial of a low-dose tricyclic antidepressant (TCA) second-line, such as amitriptyline (off-label indication)

Answer 311

Clinical features A diagnosis of IBS in primary care if abdominal pain or discomfort has been present for at least 6 months and: • Is either relieved by defecation or associated with altered bowel frequency (increased or decreased), or stool form (hard, lumpy, loose, or watery) and: • Is accompanied by at least two of the following symptoms: - Altered stool passage (straining, urgency, incomplete evacuation). - Abdominal bloating (more common in women than men), distension, tension or hardness. - Made worse by eating. - Passage of rectal mucus. It is important to ensure that alternative conditions with similar symptoms have been excluded prior to establishing diagnosis of IBS. It is important to exclude red flag symptoms —> PR bleeding, unintential weight loss, family history of bowel or ovarian cancer, onset after 60 years of age. Red flag symptoms are NOT present in IBS.

Answer 312

Clinical features Two-thirds of the cancers occur in the proximal colon. • Blood in the stool • Change in bowel habit • Weight loss Investigation The Amsterdam criteria are sometimes used to aid diagnosis: • At least 3 family members with colon cancer • The cases span at least two generations • At least one case diagnosed before the age of 50 years Management • Surgery

Answer 313

Hepatitis B serology HBsAg (surface antigen) Acute disease • Usually present for 1 - 6 months • If present > 6 months, then indicates chronic disease Anti-HBs Immunity • Either through exposure or immunisation Anti-HBc Previous or current infection • IgM anti-HBc surfaces during acute infection and present for 6 months • IgG anti-HBc persists for longer than 6 months in chronic infection HbeAg Marker of Hep B virus infectivity and replication

Answer 314

. Pathophysiology Around one half of the world's population is infected with H. pylori but most of them are asymptomatic. Only a few strains of the bacteria are pathogenic. The bacteria utilises virulence factors to induce an inflammatory response - the virulence factors include oxidase, catalase, and urease. Colonisation can initially cause H. pylori induced gastritis, which can progress to chronic gastritis if left untreated. Chronic gastritis may lead to atrophy of the stomach lining, and the development of peptic ulcers (gastric or duodenal). Clinical features

Answer 315

H. pylori induced gastritis presents with: • Dyspepsia • Abdominal pain/discomfort • Nausea H pylori is strongly associated with peptic ulcer disease. 95% of duodenal ulcers and 75% of gastric ulcers are associated with H pylori infection. Clinical features of peptic ulcer disease • Dyspepsia • Nausea • Reflux • Epigastric pain which is worse after eating - gastric ulcer • Epigastric pain which improves with eating - duodenal ulcer

Answer 316

Investigation for H pylori: • H pylori breath test • Stool antigen test • Upper GI endoscopy - gold standard to confirm diagnosis - CLO test performed on the biopsy Management • Eradication therapy for H pylori +ve patients: - a proton pump inhibitor + amoxicillin + (clarithromycin OR metronidazole) - if penicillin-allergic: a proton pump inhibitor + metronidazole + clarithromycin • For peptic ulcer disease confirmed on endoscopy: - Full dose PPI for 4-8 weeks

Answer 317

Clinical features • Initial symptoms are non-specific: fatigue, leathargy, weight loss, arthralgia • Bronze skin pigmentation • Fatigue • Erectile dysfunction • Diabetes • Hepatomegaly

Answer 318

Haemochromatosis can lead to liver cirrhosis (presenting with signs of chronic liver disease) and cardiac failure (secondary to dilated cardiomyopathy). Investigation • Raised transferrin saturation • Raised ferritin • Low total iron binding capacity (TIBC) • Genetic testing for the C282Y and H63D mutations Management • Venesection - first line treatment • Desferrioxamine - second line treatment

Answer 319

Clinical features • Mild jaundice - especially during periods of stress, intercurrent illness, prolonged fasting Investigation • Blood test → hyperbilirubinaemia Management • No treatment required

Answer 320

Campylobacter • A flu-like prodrome followed by crampy abdominal pains, fever and diarrhoea which may be bloody • Complication - Guillain-Barre syndrome • Management if severe: clarithromycin • Incubation period: 48 - 72 hours Bacillus cereus • Typically due to reheated rice • Vomiting within 6 hours of ingestion • Diarrhoea after 6 hours Staphylococcus aureus • Severe vomiting • Short incubation period: 1-6 hours Amoebiasis • Bloody diarrhoea • Associated with liver abscess - RUQ pain, fever and deranged LFTs • Incubation period: >7 days

Answer 321

: E Coli • Causes traveller’s diarrhoea • Watery stools • Crampy abdominal pain •Incubation period: 12 - 48 hours Cholera • Profuse, watery diarrhoea that results in severe dehydration Giardiasis • Caused by the protozoan giardia lamblia • Prolonged non-bloody diarrhoea • Incubation period: >7 days Shigella • Bloody diarrhoea • Vomiting and abdominal pain • Incubation period: 48 - 72 hours

Answer 322

Clinical features • Heartburn • Odynophagia • Regurgitation • Chest discomfort • Dysphagia Investigation • GORD is a clinical diagnosis. • Endoscopy is not routinely offered in GORD, unless red flag symptoms are present which could indicate oesophageal cancer. • Offer urgent, direct access upper gastrointestinal endoscopy (to be done within 2 weeks) to assess for oesophageal cancer in people: - Dysphagia - Aged 55 and over with weight loss and any of the following: · Upper abdominal pain · Reflux · Dyspepsia - If endoscopy is negative consider 24-hr oesophageal pH monitoring (the gold standard test for diagnosis) Management • A full-dose PPI for 4 or 8 weeks. • If above fails, consider a high dose of the initial PPI, switching to another full-dose PPI or switching to another high-dose PPI

Answer 323

Clinical features • Heartburn • Odynophagia • Regurgitation • Chest discomfort • Dysphagia Investigation • GORD is a clinical diagnosis. • Endoscopy is not routinely offered in GORD, unless red flag symptoms are present which could indicate oesophageal cancer. • Offer urgent, direct access upper gastrointestinal endoscopy (to be done within 2 weeks) to assess for oesophageal cancer in people: - Dysphagia - Aged 55 and over with weight loss and any of the following: · Upper abdominal pain · Reflux · Dyspepsia - If endoscopy is negative consider 24-hr oesophageal pH monitoring (the gold standard test for diagnosis)

Answer 324

Clinical features • Epigastric pain • Dyspepsia • Dysphagia • Weight loss • Early satiety • On examination: - Palpable virchow’s node in the left supraclavicular fossa Investigation • Upper GI endoscopy All patients with a palpable epigastric mass (consistent with gastric cancer) should be referred via 2 week wait suspected cancer pathway. Management • Surgery + chemotherapy

Answer 325

. Risk factors: • Female • Obesity • Pregnancy • Birth control pills Investigation: • Abnormal liver function tests on bloods • Abdomen USS for imaging - gold standard Complications: Disease Clinical features Management Asymptomatic gallstones (incidental finding) Asymptomatic Reassurance Biliary colic RUQ pain, worse after a fatty meal Ix → USS Mx → Routine cholecystectomy as outpatient Cholecystitis RUQ pain Fever Systemically unwell Murphy’s sign positive on examination

Answer 326

Clinical features • FAP can also develop 'silently' in some individuals, giving few or no signs until it has developed into advanced colorectal cancer. • In other patients, it can cause PR bleeding and/or iron deficiency anaemia • Family history of colorectal cancer Investigation • Family members of identified individuals are offered colonoscopy screening every 1-3 years. Management • Preventative total colectomy

Answer 327

Investigation • Important to exclude red flag symptoms which can indicate oesophageal cancer • Dyspepsia is a clinical diagnosis, endoscopy is not routinely indicated unless red flag symptoms are present. Please read the notes on ‘Upper GI endoscopy referral pathways - suspected oesophageal cancer’ for the guidelines on endoscopy referrals. Management • Trial of full-dose proton pump inhibitor for one month OR a 'test and treat' approach for H. pylori • If symptoms persist after initial therapy, then then the alternative approach should be tried Please read notes on ‘Helicobacter pylori testing' for further information

Answer 328

Clinical features • Progressive, intermittent dysphagia to both solids and liquids • Regurgitation of fluids • Heartburn • Chest discomfort Achalasia tends to present in the second to fifth decade of life. Investigations • Oesophageal manometry is gold standard - Demonstrates that the gastro-oesophageal sphincter has a high resting tone and only partially relaxes • Barium swallow - Proximal dilatation and distal smooth tapering (bird's beak appearance) • Chest x-ray- Widened mediastinum Management • First line: endoscopic hydrostatic or pneumatic dilatation • Heller's operation – endoscopic myotomy • Intrasphincteric injection of botulinum toxin

Answer 329

Aetiology Oesophageal varices Vomiting a large volume of fresh red blood Patient usually has stigmata of chronic liver disease e.g. finger clubbing Mallory-weiss tear Vomiting small volume of bright red blood after a bout of repeated food vomiting Gastric ulcer Tend to present as melena/haematemesis/epigastric pain. Pain is worse after eating food Duodenal ulcer Tend to present as melena/haematemesis/epigastric pain. Pain is relieved by eating food

Answer 330

Investigations • Blood test: - Elevated GGT - The ratio of AST:ALT is normally > 2 • Imaging → liver USS Management • Alcohol abstinence • Glucocorticoids (e.g. prednisolone) are often used during acute episodes of alcoholic hepatitis

Answer 331

Amoebiasis Infection with the parasite entamoeba histolytica. If the parasite reaches the bloodstream it can spread through the body, most frequently ending up in the liver where it can cause amoebic liver abscesses. 90% of affected people are asymptomatic. Amoebic dysentry • Presents with profuse watery diarrhoea. • Investigation → stool culture shows trophozoites • Management → metronidazole Amoebic liver abscess • Presents with fever, right upper quadrant pain, hepatomegaly • Investigation → serology, USS • Management → antibiotics and drainage of the abscess

Answer 332

Pathophysiology Ascitic fluid can accumulate as a transudate or exudate. Transudates are the result of increased pressure in the portal blood vessels (portal hypertension), whilst exudates are the result of inflammation or malignancy. The serum ascitic albumin gradient (SAAG) measures the portal pressure and can be used to determine if the ascites is transudative or exudative. SAAG = (serum albumin) – (ascitic fluid albumin) A high SAAG (>1.1g/dL) = transudate A low SAAG (<1.1g/dL) = exudate Transudate Exudate Liver cirrhosis (75%) Acute liver failure Liver metastasis Right sided heart failure Budd-chiari syndrome Nephrotic syndrome Malignancy - peritoneal carcinomatosis Severe malnutrition Investigations • Abdominal USS for imaging • Ascitic tap - sample sent for analysis to determine transudate vs exudate

Answer 333

Management • Dietary sodium restriction • Spironolactone for diuresis, aiming for weight loss of 1kg/day initially • Therapeutic paracentesis - For patients with diuretic-resistant ascites • Surgery - Transjugular intrahepatic portosystemic shunt (TIPSS) - Can be used in patients with refractory ascites needing frequent paracentesis (>3/month).

Answer 334

Clinical features • 75% of patients are young and middle ages women • Insidious onset → generally unwell, jaundiced, amenorrhoea, epistaxis, bleeding gums and easy bruising • On examination, features of chronic liver disease: - Spider naevi - Striae on the abdominal wall - Acne and hirsutism - Splenomegaly - Hepatomegaly - in early disease; the liver gradually shrinks later on - Ascites, oedema, hepatic encephalopathy - late features Investigation • Liver biopsy is the gold standard investigation to establish diagnosis - Shows inflammation extending beyond limiting plate 'piecemeal necrosis' Management • Steroids • Liver transplant

Answer 335

Pathophysiology Metaplasia is the reversible change from one cell type to another. Chronic gastro-oesphageal reflux disease causes the lower portion of the oesophagus to be constantly exposed to reflux of acidic gastric contents, resulting in metaplasia. The normal squamous epithelium is replaced by columnar epithelium (resembling the epithelium in the stomach). This increases the risk of developing neoplastic changes in the future, potentially leading to an oesophageal adenocarcinoma. The lower 1/3 of the oesophagus is most commonly affected in Barrett's due to the proximity to the gastro-oesophageal junction (GOJ).

Answer 336

Risk factors: - Caucasian - Male - Age >50 years - Smoking - Obesity - Hiatus hernia Clinical features: Barrett's is often asymptomatic, but can be associated with the following vague symptoms: - Heartburn - Vague epigastric discomfort/mild pain - dysphagia (with progressive disease). Investigations: Barrett's is a histological diagnosis based on biopsy from the oesophageal epithelium, taken by upper GI endoscopy. At endoscopy, the metaplastic epitheium appears velvety and inflamed when compared to the pale, preserved squamous epithelium. The severity of the condition depends on the length and degree of dysplasia

Answer 337

Risk factors: The 4 Fs of gallstones: - Fat (obesity) - Fertile - Female - Forty Other risk factors: - Diabetes mellitus - The combined oral contraceptive pill - Pregnancy - Rapid weight loss

Answer 338

Clinical features: • Right upper quadrant abdominal pain, colicky in nature, and worse after a fatty meal. • Associated with nausea and vomiting • No fever and liver function tests are normal (if pyrexial and/or LFTs abnormal, then woud suggest a more serious complication of gallstones e.g. acute cholangitis) Investigation: • Ultrasound Management: • Surgery to remove the gallbladder - an elective laparoscopic cholecystectomy Complications: • Acute cholecystitis • Ascending cholangitis • Acute pancreatitis • Gallbladder perforation

Answer 339

Clinical features Budd-chiari tends to present with a classical triad of: • Abdominal pain • Ascites • Hepatomegaly Investigation Ultrasound with doppler flow studies Management Treatment aims to remove the cause of budd-chiari. • Side-to-side portacaval or splenorenal anastomosis to decompress the congested liver • Thromolytic therapy • Liver transplant

Answer 340

Pathophysiology Carcinoid syndrome is the result of neuroendocrine tumours, which commonly occur in the lungs, but can also occur in other places such as kidneys and pancreas. These tumours produce active substances, mainly serotonin, which are released into the systemic circulation. These biological substances should be metabolised and inactivated by the liver, which is why carcinoid syndrome typically occurs in patients with liver mestasytasis; thus, the substances are not metabolised and exert their effect on the systemic blood vessels.

Answer 341

Clinical features - Flushing - Diarrhoea - Bronchoconstriction - Heart disease - fibrosis of the tricuspid and pulmonary valves of the right side of the heart. Patients present with pulmonary stenosis - a harsh ejection systolic murmur which is loudest on inspiration Investigations - 24 hour urine levels of 5-HIAA (5-hydroxyindoleacetic acid), the end product of serotonin metabolism. - Chromogramin A levels a glycoprotein released by neuroendocrine tumors, can be used to detect non-secreting tumors Management - Somatostatin analogues e.g. octreotide

Answer 342

Pathophysiology Clostridioides difficile is an anaerobic gram-positive bacterium which infects the gut; infection usually occurs after a course of antibiotics is taken to treat a prior infection. The antibitoics disturb the composition of the normal, healthy flora of the gut, thus disease-causing bacteria such as C diff can overgrow and colonise the gut leading to colitis. Once it has infected the gut, C diff produces enterotoxins and cytotoxins inside the intestine which can lead to pseudomembranous colitis - inflammation of the colon which leads to formation of pseudomembranes on the intestinal mucosal surface. C diff is transmitted via the faecal-oral route.

Answer 343

Management The management of C diff infection is with antibiotics, the choice of which depends on whether it is a first-time or repeat episode. First time infection: • First line: oral vancomycin - 125 mg orally four times a day for 10 days • Second line: oral fidaxomicin - 200 mg orally twice a day for 10 days • Third line: oral vancomicin (Up to 500 mg orally four times a day for 10 days) + IV metronidazole (500 mg IV three times a day for 10 days) Repeat infection: • Recurrence within 12 weeks of infection: oral fidaxomicin - 200 mg orally twice a day for 10 days • After 12 weeks: oral fidaxomicin (200 mg orally twice a day for 10 days) or vancomicin (125 mg orally four times a day for 10 days)

Answer 344

The condition is caused by a combination of immune, environmental, and bacterial factors in a genetically-predisposed individual. It is a chronic inflammatory disorder which causes inflammation of all layers of the GI tract down to the serosa. It can affect any part of the GI tract from the mouth to the anus, although most commonly affects the ileum of the small bowel.

Answer 345

Clinical features • Diarrhoea (unexplained, persistent diarrhoea for more than 4-6 weeks) • Abdominal pain or discomfort • Non-specific symptoms such as weight loss, anaemia, and fatigue • Extra-intestinal manifestations: - Pauci-articular arthritis - Erythema nodosum - Apthous mouth ulcers - Episcleritis - Osteoporosis

Answer 346

Investigations • Serum full blood count — anaemia may be due to blood loss, malabsorption, or malnutrition. • Serum inflammatory markers such as C-reactive protein (CRP) and erythrocyte sedimentation rate (ESR) — may be raised • Serum ferritin, vitamin B12, folate, and vitamin D levels — may be nutritional deficiencies due to malabsorption or intestinal losses. • Faecal calprotectin (a faecal white cell marker, for adults) — if raised may suggest active inflammation • Endoscopy features: - Transmural inflammation with skip lesions - Goblet cells - Granulomas - Cobblestone appearance

Answer 347

Management • Specialist drug treatments for Crohn's disease are given for induction and maintenance of remission. - Corticosteroids - e.g. prednisolone can be used to induce remission - Immunosuppressive drugs - the thiopurines (azathioprine, mercaptopurine) or methotrexate (second-line) may be added to corticosteroid therapy to induce remission if there are two or more inflammatory exacerbations in a 12-month period. All patients starting azathioprine need to have TPMT enzyme level test - Biologic therapy - the anti-tumour necrosis factor alpha monoclonal antibody agents infliximab and adalimumab are effective at inducing remission in people with severe active disease which has not responded to conventional therapy. - Aminosalicylates - mesalazine and sulfasalazine may be considered for a first presentation or a single inflammatory exacerbation in a 12-month period, if corticosteroids are contraindicated or not tolerated.

Answer 348

Clinical features • Chronic or intermittent diarrhoea • Symptoms of anaemia • Other persistent GI symptoms - nausea and vomiting, acid reflux, weight loss, reduced appetite, constipation, and steatorrhoea. In paediatric patients, presents with: • Failure to thrive • Faltering growth • Short stature • Delayed puberty Conditions associated with coeliac disease: • Dermatitis herpetiformis: cutaneous manifestation - symmetrical sites of itchy skin, most commonly involving the elbows, knees, shoulders and buttocks. • Type 1 diabetes • Chronic anaemia of unknown cause including iron, vitamin B12, or folate deficiency • Persistent or recurrent mouth ulcers • Recurrent abdominal pain and/or cramping • Abdominal bloating

Answer 349

Risk factors • Genetic predisposition - HLA-DQ2 and/or -DQ8 haplotypes • Family history • Other autoimmune conditions such as type 1 diabetes or autoimmune thyroid disease Investigations If symptoms and/or examination highly suspicious of coeliac disease: 1. Arrange for serology • Need to test for total IgA antibodies (to exclude IgA deficiency causing false result) • Alternative to anti-tTG is Anti-endomysial antibodies (EMA) • If +ve antibodies, then for endoscopy 2. Gold standard → endoscopic duodenal biopsy to confirm the diagnosis • First line → test for anti-tissue transglutaminase (tTG) antibodies • It is important the patient continues to eat gluten-containing foods, for at least one meal a day, for 6 weeks prior to testing. Management: • Gluten-free diet - Patients can be referred to a dietitian for dietary counseling • Correcting deficiencies in iron, vitamin B12, folate.

Answer 350

Colorectal tumours are treated with resectional surgery. Types of resections: • Right hemicolectomy - For caecal, ascending or proximal transverse colon cancers • Left hemicolectomy - For distal transverse, descending colon cancers • Anterior resections - For sigmoid and rectal cancers • Abdomino-perineal excision of rectum - For cancers on the anal verge

Answer 351

If rectal or abdominal mass: • Consider a suspected cancer pathway referral (for an appointment within 2 weeks) for colorectal cancer in people with a rectal or abdominal mass. Consider a suspected cancer pathway referral (for an appointment within 2 weeks) for colorectal cancer in adults aged under 50 with rectal bleeding and any of the following unexplained symptoms or findings: • Abdominal pain • hange in bowel habit • Weight loss • Iron-deficiency anaemia.

Answer 352

: • With an abdominal mass or • With a change in bowel habit or • With iron-deficiency anaemia or • Aged 40 and over with unexplained weight loss and abdominal pain or • Aged under 50 with rectal bleeding and either of the following unexplained symptoms: • Aged 50 and over with any of the following unexplained symptoms: - rectal bleeding - Abdominal pain - Weight loss or - Abdominal pain - Weight loss or Offer quantitative faecal immunochemical testing (FIT) for suspected colorectal cancer in adults: • Aged 60 and over with anaemia even in the absence of iron deficiency. Patients with a positive FIT test are referred for a colonoscopy and an urgent appointment to be seen under a 2 week pathway.

Answer 353

Screening for colorectal cancer: • All men and women aged 60-74 years have a FIT test every 2 years. • Positive FIT test (at least 10 micrograms of haemoglobin per gram of faeces) are invited to have a colonoscopy. In addition to above, all patients at age of 55 are invited for a one-off flexible sigmoidoscopy to identify and remove polyps to reduce malignant transformation.

Answer 354

• Male • Increasing age • Diet - red meat and processed meat, high-fat diet, inadequate intake of fibre • Genetics - the following conditions predispose to developing colorectal cancer: - Familial adenomatous polyposis - Gardner's and Turcot's syndromes - Familial colorectal cancer syndrome (Lynch I) - Hereditary adenocarcinomatosis syndrome (Lynch II) - Family history of colorectal carcinoma

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