100 Cases Questions I

Question 1

What is the most common type of lung cancer?

Answer 1

Adenocarcinoma

Question 2

Which type of lung cancer is most heavily associated with a strong history of smoking?

Answer 2

Squamous cell carcinoma

Question 3

How do the results of the LHRH test differ in the non-pubertal and pubertal state? (2)

Answer 3

• FSH Predominance; if the FSH level rises more than LH following LHRH administration then the patient is unlikely to be undergoing puberty<br></br>- LH Predominance;if the LH level rises more than FSH following LHRH administration then the patient is likely to be undergoing puberty

Question 4

Outline the triad of features associated with immune (idiopathic) thrombocytopaenic purpura (ITP)? (3)

Answer 4

• Petechiae and/or bruising
• Epistaxis
• Thrombocytopaenia

Question 5

Outline the main differentials for a patient presenting with polydipsia and polyuria? (4)

Answer 5

• Diabetes mellitus
• Diabetes insipidus
• Primary polydipsia
• Hypercalcaemia

Question 6

Outline the key investigations required to differentiate the main causes of polydipsia and polyuria? (4)

Answer 6

• Blood glucose monitoring; random glucose, fasting glucose, HbA1c<br></br>- Urinalysis; glucose, specific gravity, urine osmolality<br></br>- Fluid deprivation test; restrict fluid for 8 hours and measure urine osmolality, administer desmopressin<br></br>- Corrected serum Ca²⁺; to account for variation in serum albumin concentrations

Question 7

What is the equation used to estimate serum osmolality?

Answer 7

Serum osmolality = 2 x [Na⁺] + [urea] + [glucose]

Question 8

Why do we need to calculate the corrected serum calcium when investigating potential hypocalcaemia?

Answer 8

• Most of the calcium in the body is bound to albumin
• Therefore when albumin levels are low, the measured serum calcium will also appear low
• Similarly in cases of hyperalbuminaemia the measured serum calcium may appear elevated

Question 9

How can you differentiate glomerular and non-glomerular causes of microscopic (non-visible) haematuria?

Answer 9

Glomerular causes of microscopic (non-visible) haematuria will have a concomitant proteinuria whereas non-glomerular causes will not

Question 10

Outline the main types of microscopic (non-visible) haematuria? (3)

Answer 10

• Glomerular; associated with damage at the level of the nephron (glomerulus)
• Post-glomerular; associated with damage to the urinary tract at the level of whole organ (kidney, ureter, bladder, urethra)
• Other; excess anticoagulation, march haematuria (repetitive impacts on the body, particularly the feet, causing haemolysis)

Question 11

Outline the gold-standard investigation for a patient presenting with painless haematuria?

Answer 11

Flexible cystoscopy

Question 12

Outline the main red flag symptom associated with bladder cancer?

Answer 12

Painless haematuria

Question 13

Outline the main types of hyponatraemia in terms of plasma osmolality and the underlying mechanism? (3)

Answer 13

• Hypertonic hypernatraemia; solutes in the extracellular fluid draw water out from cells and thus dilute the sodium concentration
• Isotonic hypernatraemia; due to retention of an isosmotic fluid in the extracellular fluid compartment
• Hypotonic hyponatraemia; caused by solute loss, volume expansion or volume contraction

Question 14

Outline thepathognomonic features associated with nephritic and nephrotic syndrome? (2)

Answer 14

• Nephritic syndrome; haematuria, hypertension, uraemia and renal failure<br></br>- Nephrotic syndrome; proteinuria, hypoalbuminaemia, oedema and hyperlipidaemia

Question 15

What is the most common cause of nephrotic syndrome in children?

Answer 15

Minimal change disease (MCD)

Question 16

Outline the two main aetiologies of nephrotic syndrome? (2)

Answer 16

• Primary glomerular disorders; minimal change disease (MCD), focal segmental glomerulosclerosis (FSGS), membranous glomerulopathy (MN)<br></br>- Systemic diseases affecting the kidneys; systemic lupus erythematosus (SLE), diabetes mellitus (DM), amyloidosis, drugs

Question 17

What key feature in the history of a child with nephrotic syndrome raises the suspicion of minimal change disease (MCD)?

Answer 17

A recent upper respiratory tract infection (URTI)

Question 18

Outline the treatment of minimal change disease (MCD) in children?

Answer 18

Corticosteroids; most children make a full recovery with normal renal function

Question 19

Outline the blood test results consistent with a haemolytic anaemia?

Answer 19

Normocytic anaemia with a raised LDH and raised bilirubin (haemoglobin breakdown product)

Question 20

What is the most common complication of systemic lupus erythematosus (SLE)?

Answer 20

Lupus nephritis; a glomerulonephritis caused by a type III hypersensitivity reaction

Question 21

What is the purpose of screening tests?

Answer 21

To identify individuals at increased risk of developing a disease so that they may undergo further testing to investigate the diagnosis

Question 22

Outline the main criteria needed in order to develop a screening test for a disease? (2)

Answer 22

• Condition must be an important but treatable health problem
• Must be identifiable at a early stage

Question 23

Outline the current reccommendations for prostate cancer screening in the UK?

Answer 23

There is no current prostate cancer screening programme in the UK

Question 24

What is the most common cause of a fasting hypoglycaemia?

Answer 24

Insulinoma; a benign insulin-secreting tumour of the pancreatic β cells

Question 25

Which key investigation is needed when considering a diagnosis of insulinoma?

Answer 25

Supervised Fast
- Plasma glucose concentrations 
- Serum insulin measurements 
- C-peptide levels 

Question 26

Outline Whipple's triad for confirmed episodes of hypoglycaemia?

Answer 26

- Hypoglycaemic symptoms associated with fasting or exercise
- Confirmed hypoglycaemia during symptomics attacks
- Reversal of symptoms with glucose administration

Question 27

Outline the classification and causes of jaundice? (3)

Answer 27

- Pre-hepatic; autoimmune haemolytic anaemia (AIHA), sickle cell disease (SCD), hereditary spherocytosis, iatrogenic (metallic heart valves)
- Hepatic;
  • Congenital; Gilbert's syndrome, Crigler-Najjar syndrome, Dubin-Johnson syndrome
  • Acquired; autoimmune hepatitis, viral hepatitis, alcohol-related liver disease, primary biliary cirrhosis/cholangitis (PBC), drugs (halothane, paracetamol)
- Post-hepatic; biliary strictures, gallstones, malignancy (pancreatic, HCC, cholangiocarcinoma), primary sclerosis cholangitis (PSC), pancreatic pseudocytsts

Question 28

What is the most common form of overdose in the UK?

Answer 28

Paracetamol overdose

Question 29

What is the mechanism by which paracetamol overdose causes toxicity? (2)

Answer 29

- Depletion of glutathione stores in attempt to detoxify NAPQI metabolite of paracetamol - Leads to increased levels of reactive oxygen species (ROS) which can damage the liver 

Question 30

Why do paracetamol levels need to be measured between 4-16 hours after taking an overdose? (2)

Answer 30

- Before 4 hours the levels may be falsely reduced due to imcomplete absorption in that time 
- After 16 hours the levels may be falsely elevated due to the resultant liver injury 

Question 31

Outline the treatment of paracetamol overdose depending on the time at presentation? (4)

Answer 31

- Within 1 hour of overdose; give activated charcoal
- Between 4-6 hours; if plasma paracetamol levels above threshold, give 3 infusions of N-acetylcysteine (NAC) plus IV fluid replacement
- Unknown time of overdose; give 3 infusions of N-acetylcysteine (NAC) plus IV fluid replacement
- Staggered overdose (>1 hr duration); give 3 infusions of N-acetylcysteine (NAC) plus IV fluid replacement

Question 32

Outline the main aetiologies of hypercalcaemia? (5)

Answer 32

MIDGE; - Malignancy-associated; squamous cell lung cancers (SCCs), osteolytic metastases  - Iatrogenic; thiazide diuretics, lithium  - Vitamin-D related; granulomatous disease, excess vitamin D intake  - Genetic; familial hypocalciuric hypercalcaemia, Gitelman syndrome - Endocrine; primary, secondary or tertiary hyperparathyroidism and thyrotoxicosis

Question 33

Outline the main classes of management in primary hyperparathyroidism? (3)

Answer 33

- Conservative; fluid rehydration and observation
- Medical; bisphosphonates, cinacalcet (inhibits PTH release)
- Surgical; parathyroidectomy

Question 34

Outline the criteria for parathyroidectomy in patients with primary hyperparathyroidism? (2)

Answer 34

- Symptomatic patients 
- Asymptomatic patients with ≥ 1 of the following;
   • Young; age < 50 years
   • Renal failure; eGFR < 60
   • Reduced bone density; T score ≤ -2.5
   • Serum calcium; ≥ 0.25 mM above normal range

Question 35

Outline the Rotterdam criteria used in the diagnosis of polycystic ovarian syndrome (PCOS)? (3)

Answer 35

≥ 2 of the following; - Infrequent ovulation (oligomenorrhoea) OR no ovulation (amenorrhoea) - Clinical or biochemical signs of hyperandrogenism (e.g. hirsutism) OR elevated levels of total or free testosterone - Polycystic ovaries as seen on ultrasound OR an increased ovarian volume 

Question 36

Outline the pathophysiology behind a goitre?

Answer 36

Hyperstimulation of the thyroid follicular cells by thyroid stimulating hormone (TSH) which results in hypertrophy 

Question 37

Outline the potential causes of a raised TSH with normal fT₄ levels? (2)

Answer 37

- Subclinical or compensated hypothyroidism 
- Treated hyperthyroidism 

Question 38

What important test should be carried out in all patients diagnosed with a subclinical hypothyroidism?

Answer 38

Measure serum antibodies for thyroid peroxidase (anti-TPO antibodies) as this is indicative of Hashimoto's thyroiditis which will often progress to clinical hypothyroidism

Question 39

Outline the argument for treating subclinical hypothyroidism?

Answer 39

Subclinical hypothyroidism can lead to impaired cardiovascular function and increased LDL levels which raises a patients cardiovascular risk

Question 40

Outline the differentials diagnoses for a patient presenting with joint pain affecting multiple joints (polyarthropathy)? (6)

Answer 40

ROSC-DV; - Rheumatoid arthritis (RA) - Osteoarthritis (OA) - Seronegative arthropathies; reactive arthritis, ankylosing spondylitis, reactive arthritis, enteropathic arthritis - Crystal arthropathies; gout, pseudogout  - Systemic diseases; systemic lupus erythematosus, systemic sclerosis, CREST - Viral arthropathies: HSP etc.

Question 41

Which diagnostic test has the greatest sensitivity and specificity for rheumatoid arthritis (RA)?

Answer 41

Anti-CCP antibodies; sensitivity 65-85%, specificity >95%

Question 42

What is the significance of a raised anion gap on a background of metabolic acidosis?

Answer 42

This implies the presence of increased levels of an unknown anion that is likely to be contributing to the acidaemia

Question 43

Outline the most common causes of a raised anion gap metabolic acidosis? (5)

Answer 43

- Ketoacidosis; diabetic, alcoholic  - Lactic acidosis; tissue hypoxia, drugs - Exogenous acids; salicylates  - Uraemic acidosis; renal failure  - Inherited organic acidoses; accumulation of organic acids 

Question 44

What is the most common cause of a bacterial meningitis in a homeless individual who drinks excess alcohol?

Answer 44

Streptococcus pneumoniae

Question 45

Outline the most common conditions associated with primary immunodeficiency? (4)

Answer 45

- Common variable immunodeficiency (CVID) - X-linked agammaglobulinaemia (XLA) - Subjective Ig subclass deficiency (SISD) - Hyper-IgM syndrome (HIMS)

Question 46

What is the most common condition causing primary immunodeficiency?

Answer 46

Common variable immunodeficiency (CVID)

Question 47

Outline the set of investigations used in suspected immunodeficiency? (4)

Answer 47

- FBC; to check for a reduced white blood cell count
- Protein electrophoresis; complement or β2-microglobulin deficiency 
- Serum immunoglobulins; to identify immunoglobulin deficiency 
- HIV testing; to indentify a common secondary cause of immunodeficiency

Question 48

Broadly speaking, outline the two possible causes of a metabolic acidosis with normal anion gap? (2)

Answer 48

- Increased H⁺ retention/decreased H⁺ excretion
- Increased HCO₃^- loss/usage

Question 49

What is the significance of a metabolic acidosis with normal anion gap?

Answer 49

It suggests a disturbance in the endogenous acid-base (H⁺/HCO₃^-) balance

Question 50

Outline the most common causes of hyperchloraemic metabolic acidosis? (3)

Answer 50

- Diarrhoea; leading to excess HCO₃^- loss from the GI tract - Renal tubular acidosis (RTA) type I; causes decreased H⁺ excretion in the urine - Fluid therapy; large volumes of normal 0.9% saline used in resuscitation and/or maintenance

Question 51

Outline the main types of renal tubular acidosis (RTA)? (4)

Answer 51

- RTA Type I; distal RTA caused by impaired H⁺ secretion associated with nephrolithiasis  - RTA Type II; proximal RTA caused by a failure of HCO₃^- reasborption leading to HCO₃^- loss - RTA Type III; hyperkalaemic RTA where increased K⁺ secretion as a compensatory mechanism is linked with the increased H⁺ reabsorption - RTA Type IV; the most common cause of renal tubular acidosis and is due to an aldosterone deficiency

Question 52

Why is renal tubular acidosis (RTA) associated with nephrolithiasis?

Answer 52

Acidosis causes increased reabsorption of citrate in the proximal tubule which predisposes renal stone formation

Question 53

Outline the major microvascular complications of T2DM? (3)

Answer 53

- Nephropathy; microalbuminaemia due to vessel damage predisposes to CKD
- Neuropathy; sensory and autonomic neuropathy of particular significance in the development of diabetic foot ulcers
- Retinopathy; ischaemia triggers VEGF release and formation of new vessels that are weak and friable

Question 54

Outline the major macrovascular complication of T2DM? 

Answer 54

Atherosclerosis; which increases cardiovascular risk factors for ACS/CVA

Question 55

Alongside tests to establish blood glucose levels, which bedside test can be used to aid in the investigation of a potential diagnosis of T2DM?

Answer 55

Urine dipstick; to look for glucose, ketones and/or protein in the urine

Question 56

Outline the most reliable variable used to differentiate pre-renal, renal and post-renal causes of acute kidney injury (AKI)?

Answer 56

Urea:creatinine ratio (Ur:Cr) 
- Pre-Renal; Ur:Cr > 100:1 
- Renal; Ur:Cr < 40:1 
- Post-Renal; Ur:Cr 40-100:1 

Question 57

Outline the definition of a laboratory diagnosis of tumour lysis syndrome (TLS)? (2)

Answer 57

- ≥ 2 metabolic disturbances in
   • Uric acid
   • Potassium
   • Phosphate
   • Calcium 
- Occuring from 3-days prior to 7-days after receiving anti-cancer therapy

Question 58

Outline the definition of a clinical diagnosis of tumour lysis syndrome (TLS)? (4)

Answer 58

- Confirmed laboratory diagnosis PLUS ≥ 1 of  • Serum creatinine; > 1.5 upper limit normal  • Cardiac arrhythmias/sudden death • Seizures

Question 59

Outline the two potential categories of causes of ambiguous genitalia? (2)

Answer 59

- Viralisation of XX; most commonly CAH due to mutation in 21-hydroxylase
- Underviralisation of XY; most commonly due to a 5α-reductase deficiency 

Question 60

Outline the key investigations that make up routine ante-natal care? (6)

Answer 60

- 8-11⁺⁶ weeks; booking visit 
- 12 weeks; dating scan 
- 12-13⁺⁶ weeks; combined test (nuchal scan plus PAPP-A)
- 14 weeks; quadruple test if unable to have combined test (too late booking to be accurate)
- 18-20⁺⁶ weeks; anomaly scan, assess growth and amniotic fluid
- 28 weeks; routine care, first dose of anti-RhD if indicated

Question 61

Why is vitamin K given given to neonates immediately after birth?

Answer 61

- Vitamin K is needed by the VKORC1 enzyme as a cofactor for the synthesis of a number of clotting factors - However, vitamin K cannot cross the placenta during development and, before birth, the fetal gut microbiome lacks the bacteria that make vitamin K - This means that newborn babies are deficient in vitamin K which may lead to haemorrhagic disease of the newborn (HDN) due to decreased clotting factor synthesis

Question 62

Outline the first-line tests that can be used to establish a diagnosis of Cushings syndrome? (4)

Answer 62

- Low-dose dexamethasone suppression test
- 24-hour urinary cortisol collection
- Midnight serum cortisol levels 
- Dexamethasone-CRH sucession test

Question 63

Which test is used first line to establish the cause of a patient's Cushing syndrome and how can it be interpreted?

Answer 63

Plasma ACTH Levels
- Low/undetectable levels; indicates an ACTH-independant cause and hence most likely due to excess production of cortisol by the adrenal glands 
- Raised/normal levels; suggestive of an ACTH-dependant cause either coming from the pituitary or an ectopic source of ACTH

Question 64

Outline the diagnostic test used in an ACTH-independant Cushing's syndrome?

Answer 64

CT adrenal gland; possible MRI/PET-CT if CT alone inconclusive

Question 65

Outline the third-line investigation used in patients with an ACTH-dependant Cushings syndrome and how this may be interpreted?

Answer 65

High Dose Dexamethasone Suppression Test
- ACTH suppressed; pituitary source indentified, most likely a pituitary adenoma (Cushings disease) 
- ACTH unsuppressed; ectopic source more likely, most likely a SCLC

Question 66

Outline the secondary causes of hypertension? (4)

Answer 66

ROPE - Renal disease; renal artery stenosis (RAS), renin-producing tumours, Liddle's syndrome, pseudohypoaldosteronism - Obesity; obstructive sleep apnoea - Pregnancy; pre-eclampsia/gestational hypertension - Endocrine; phaeochromocytoma, Conn's syndrome, Cushings syndrome, acromegaly 

Question 67

Outline the stages of investigation in Conn's syndrome (primary hyperaldosteronism)? (3)

Answer 67

- Screening testing; aldosterone-renin ratio (ARR); plasma aldosterone concentration (PAC)
- Confirmatory testing; oral sodium loading test, saline infusion test, captopril challenge test, fludrocortisone suppression test
- Causative testing; adrenal venous sampling, CT adrenal glands 

Question 68

What is the typical value of the aldosterone-renin ratio (ARR) in patients with primary hyperaldosteronism (Conn's syndrome)?

Answer 68

Aldosterone-renin ratio (ARR) > 2000:1

Question 69

What is the link between H⁺ and K⁺ in terms of the way they are handled by the body?

Answer 69

- Broadly speaking H⁺ and K⁺ travel in opposite directions across the cell
- Hence when correcting a metabolic alkalosis, H⁺ is taken up and K⁺ is lost which can result in hypokalaemia 
- Similarly non-K⁺-sparring diuretics can cause metabolic acidosis as they promote K⁺ excretion meaning that H⁺ uptake is increased

Question 70

Broadly speaking, what are the three main mechanisms by which hypokalaemia can develop? (3)

Answer 70

- Reduced K⁺ intake  - Increased K⁺ loss/excretion - Transcellular K⁺ shift

Question 71

Outline the most common causes of a transcellular K⁺ shifts resulting in hypokalaemia? (3)

Answer 71

- Insulin; stimulates glucose uptake which increases [ATP] and hence the activity of the Na⁺/K⁺ATPase - β₂AR agonists; stimulate adenylate cyclase which increases [cAMP] and in-turn the activity of the Na⁺/K⁺ATPase - Alkalosis; triggers compensatory mechanisms for H⁺ reabsorption in the kidney which occurs at the expense of K⁺ secretion and excretion

Question 72

Outline the most common causes of extra-renal K⁺ loss? (3)

Answer 72

- Vomiting; results in H⁺ loss and subsequent alkalosis which promotes H⁺ reabsorption in the kidney in exchange for K⁺ excretion
- Sweating; K⁺ is lost in the sweat hence excess sweating can be sufficient to cause hypokalamia 
- Dialysis; removal of K⁺ during dialysis can be sufficient to cause hypokalamia 

Question 73

Outline the most common causes of hypokalaemia due to renal loss of K⁺? (4)

Answer 73

- Diuretics; non-K⁺-sparring diuretics such as loop diuretics, thiazide diuretics and osmotic diuretics 
- Hypomagnesaemia; magnesium deficiency impairs Na⁺/K⁺ATPase function which decreases cellular uptake of K⁺
- Hyperaldosteronism; aldosterone promotes Na⁺ reabsorption in exchange for K⁺ excretion 
- Renal tubular acidosis; RTA can cause renal failure and K⁺ loss in the urine 

Question 74

Outline the ECG changes associated with hypokalaemia? (4)

Answer 74

ECG features
- U waves
- Small or absent T waves
- Prolonged PR interval
- ST depression

Question 75

Outline the two subtypes of hypogonadism based on the position of the lesion amongst the HPG axis? (2)

Answer 75

- Primary hypogonadism; due to intrinsic problems with the gonads (ovaries/testes)
- Secondary hypogonadism; mainly due to pituitary disease or hypothalamic dysfunction

Question 76

Outline the main aetiologies of primary hypogonadism in males? (2)

Answer 76

- Congenital; Klinefelter's, testicular agenesis, 5α-reductase deficiency  - Acquired; mumps/orchtitis, bilateral testicular injury/torsion, chemo/radiotherapy

Question 77

What is the most common type of pituitary adenoma?

Answer 77

Prolactinoma

Question 78

How can you differentiate primary hypogonadism from secondary hypogonadism?

Answer 78

Measure gonadotrophin (LH/FSH) levels
- Primary hypogonadism; hypergonadotropic hypogonadism due to loss of negative feedback via sex hormones 
- Secondary hypogonadism; hypogonadotropic hypogonadism due to decreased GnRH and/or LH/FSH release

Question 79

Outline the symptoms of a prolactinoma in men and women? (2)

Answer 79

- Men; loss of libido, erectile dysfunction, gynaecomastia | - Women; amenorrhoea, galactorrhoea, infertility

Question 80

What is the most common cause of familial hypercholesterolaemia?

Answer 80

Mutations in the LDL receptor (LDL-R) which decrease cholesterol clearance from the blood stream

Question 81

Outline the main features of familial hypercholesterolaemia? (4)

Answer 81

- Hypercholesterolaemia 
- Hyperlipidaemia
- Early-onset vascular disease; diabetes, hypertension ect.
- Tendon xanthomas; pathognomonic 

Question 82

Outline the main complications associated with bone marrow transplantation? (3)

Answer 82

- Infection; due to reduced WCC from immunosuppressant medications  - Bleeding; due to reduced platelet counts associated seen in patients undergoing bone marrow transplantation - Graft versus host disease (GvHD); due to allogeneic (donor) T-lymphocytes reacting to host (recipient) HLA antigens

Question 83

Outline the pathognomonic feature of graft versus host disease (GvHD) secondary to bone marrow transplantation?

Answer 83

Erythematous rash that develops on the palms of the hand or soles of the feet 10-30 days after transplantation that may progress to cause desquamation

Question 84

What is the most common type of bladder cancer?

Answer 84

Urothelial cell carcinoma (transitional cell carcinoma)

Question 85

What is the most common type of prostate cancer?

Answer 85

Adenocarcinoma

Question 86

What is the most common type of kidney cancer?

Answer 86

Renal cell carcinoma (RCC)

Question 87

What is the most common subtype of renal cell carcinoma (RCC)?

Answer 87

Clear cell carcinoma

Question 88

What is the most common type of testicular cancer?

Answer 88

Germ cell tumours

Question 89

What is the most common type of testicular germ cell tumour?

Answer 89

Seminoma

Question 90

What is the specific definition of a Colles' fracture?

Answer 90

Fracture of the distal radius with dorsal displacement of the distal fragment

Question 91

What are the classical examples of fragility fractures? (3)

Answer 91

- Colles' fracture of the distal radius
- Fractured neck of the femur 
- Vertebral body fracture

Question 92

Outline the causes of secondary osteoporosis? (4)

Answer 92

ENDO
- Endocrine; thyrotoxicosis, Cushing's syndrome, hyperparathyroidism 
- Nutritional; vitamin D deficiency, malabsorption (coeliac disease) 
- Drugs; steroids, aromatase inhibitors, tamoxifen
- Other; multiple myeloma, osteogenesis imperfecta, rheumatoid arthritis (RA)

Question 93

Outline the threshold needed for diagnosis of osteoporosis on DEXA scan?

Answer 93

T-score ≤ -2.5; meaning that bone density is more than 2.5x less than what it should be

Question 94

What is the most common cause of osteoporosis? 

Answer 94

Primary osteoporosis is the most common form and occurs predominantly in post-menopausal women due to the reduction in oestrogen levels

Question 95

Outline the management of osteoporosis? (5)

Answer 95

BCDEF

- Bisphosphonates

- Calcium 
- Vitamin D
- Education

- Fall prevention

Question 96

Outline the main complications of solid organ transplantation? (4)

Answer 96

- Operative complications; anastomotic leaks, bleeding ect. 
- Infection; especially CMV
- Rejection; hyperacute, acute or chronic
- B-lymphocyte transformation; lymphoproliferation either due to EBV reactivation in the host or introduction of EBV-positive tissue from the donor 

Question 97

What is the most common cause of a subacute stridor?

Answer 97

Laryngomalacia; soft and floppy laryngeal cartilage, with an abnormal epiglottis and/or arytenoid cartilages

Question 98

What is the most common cause of respiratory distress in a child with laryngomalacia?

Answer 98

Intercurrent upper respiratory tract infections (URTIs) can cause exacerbation of laryngomalacia

Question 99

Which investigation is used to confirm a diagnosis of laryngomalacia?

Answer 99

Flexible laryngoscopy; usually carried out by ENT surgeons as an outpatient appointment

Question 100

What is the most common cause of an acute stridor?

Answer 100

Laryngotracheobronchitis (croup); most commonly caused by the parainfluenza virus

Question 101

Outline the main differential diagnoses in an acute stridor? (4)

Answer 101

- Laryngotracheobronchitis (croup) - Inhaled foreign body - Anaphylaxis - Epiglottitis

Question 102

Outline the management steps used in the treatment of croup? (4)

Answer 102

- First-line; oral dexamethasone 
- Second-line; nebulised budesonide
- Third-line; nebulised adrenaline 
- Fourth-line; intubation and ventilation 

Question 103

Which medication can be given prophylactically to infants at high-risk of bronchiolitis?

Answer 103

Palivizumab; an anti-RSV monoclonal antibody 

Question 104

Outline the classic signs and symptoms of cystic fibrosis in children? (3)

Answer 104

- Recurrent chest infections - Fingernail clubbing - Bulky offensive stools (malabsorption) 

Question 105

What is the most common cause of nail clubbing in children in the UK?

Answer 105

Cystic fibrosis

Question 106

How does the presentation of cystic fibrosis differ in different ages during childhood? (3)

Answer 106

- Neonatal; merconium ileus, intestinal atresia
- Infant; failure to thrive, malabsorption 
- Toddlers/children; recurrent chest infections, difficult asthma, diabetes

Question 107

Outline the tests carried out in the diagnosis of cystic fibrosis? (3)

Answer 107

- Neonatal screening; Guthrie card measuring immunoreactive trypsinogen (IRT)
- Confirmatory genetic testing; CFTR sequencing 
- Chloride sweat test; if diagnostic uncertainty 

Question 108

What is the most common cause of an acute deterioration of chronic asthma in paediatric patients?

Answer 108

Poor adherence to home treatment and/or poor inhaler technique

Question 109

Outline the two main subtypes of a persistent wheeze in children? (2)

Answer 109

- Episodic Viral Wheeze (EVW); wheeze associated with an upper respiratory tract infection (URTI) - Multiple Trigger Wheeze; (MTW); wheeze associated with allergens, viral infections and exercise

Question 110

Outline the management of preschool episodic viral-induced wheezing?

Answer 110

- Management of acute flare-ups; management resembles treatment of acute asthma
- No need for prophylactic therapy

Question 111

Outline the management of preschool multiple trigger wheezing (MTW)?

Answer 111

- Management of acute flare-ups
- Prophylactic therapy; trial of LRTA or ICS 

Question 112

Which additional differential is important to consider in paediatric patients presenting with abdominal pain?

Answer 112

Lower lobe pneumonia; due to poor ability of patients to localise pain

Question 113

When are the childhood pneumococcal vaccinations against Steptococcus pneumoniae serotypes given? (2)

Answer 113

- 3 months | - 1 year

Question 114

What is the most common cause of chest pain in children?

Answer 114

Idiopathic chest pain

Question 115

Why are there few congenital cyanotic heart conditions that present on the first day of life?

Answer 115

- Because the ductus arteriosus remains open at this stage, flow through it is reversed due to the decrease in pressure in the pulmonary arteries
- This acts to maintain pulmonary blood flow as blood flows from the aorta into the pulmonary arteries, allowing for sufficient oxygenation

Question 116

What is the most common cardiac cause of cyanosis in the newborn?

Answer 116

Transposition of the great arteries (TGA)

Question 117

Which investigations are useful in diagnosing transposition of the great arteries (TGA)? (2)

Answer 117

- Chest X-ray; may shown 'egg-on-string' appearance plus narrowing of the superior mediastinum - Hyperoxia test; exposure to 90-100% oxygen fails to trigger a rise in the PaO₂

Question 118

Outline the management of transposition of the great arteries (TGA)? (3)

Answer 118

- Prostaglandin infusion; to maintain the ductus arteriosus 
- Correction of any metabolic acidosis; these may have arised due to hypoxia 
- Surgical correction; balloon atrial septostomy, arterial switch

Question 119

Outline the most common congenital cardiac lesions presenting with neonatal collapse? (4)

Answer 119

- Severe aortic coarctation - Aortic arch interruption - Critical aortic stenosis - Hypoplastic left heart syndrome 

Question 120

Outline the classification used for the differential diagnoses of a collapsed neonate? (7)

Answer 120

- Infection; group B Streptococcus (GBS), herpes simplex virus (HSV)
- Cardiogenic; hypoplastic left heart syndrome (HLHS), supraventricular tachycardia (SVT)
- Hypovolaemic; dehydration, bleeding 
- Neurogenic; meningitis, subdural haemotoma ('shaken-baby')
- Pulmonary disorder; congenital diaphragmatic hernia (late presentation)
- Metabolic; propionic acidaemia, methylmalonic acidaemia
- Endocrine; panhypopituitarism

Question 121

What is the most common pathological arrhythmia seen in childhood?

Answer 121

Supraventricular tachycardia (SVT)

Question 122

What is the typical heart rate in a supraventricular tachycardia (SVT)? 

Answer 122

200-300 beats/min

Question 123

Where is the most common location in the GI tract for intussusception to occur?

Answer 123

Ileocolic; terminal ileum (intussusceptum) invaginates into the colon (intussuscipiens)

Question 124

What is the most common type of endometrial cancer?

Answer 124

Endometrioid; the most common type of endometrial cancer which is seen in up to 80% of cases.

Question 125

What is the most common type of ovarian cancer?

Answer 125

Serous; epithelial ovarian cancers are the most common type, of which the serous subtype occurs in 60-70% of cases.

Question 126

Which imaging modalities are preferred for investigating upper vs lower urinary tract causes of haematuria? (2)

Answer 126

- Upper urinary tract; CT urogram
- Lower urinary tract; flexible cystoscopy

Question 127

Outline the normal range of kidney size seen on ultrasound scanning?

Answer 127

10 - 12 cm in length 

Question 128

Why can patients with chronic kidney disease (CKD) have hyperphosphataemia with hypocalcaemia and a raised alkaline phosphatase (ALP)? (3)

Answer 128

- Hyperphosphataemia; due to reduced renal elimination of PO₄^2- - Hypocalcaemia; due to reduced renal production of activated vitamin-D (calcitriol) - Elevated ALP; due to compensatory bone resorption to restore serum [Ca²⁺]

Question 129

Which equation can be used to estimate glomerular filtration rate (eGFR)?

Answer 129

eGFR Equation

Question 130

Outline the main causes of chronic kidney disease (CKD)? (6)

Answer 130

- Hypertension
- Diabetes mellitus 
- Glomerulonephritis
- Renovascular disease
- Chronic obstruction/interstitial nephritis
- Hereditary/cystic renal disease

Question 131

What kind of anaemia is associated with chronic kidney disease (CKD)?

Answer 131

Normocytic anaemia; due to reduced production of erythropoeitin (EPO) by the damaged kidneys

Question 132

Which symptom/sign associated with Addison's disease classically presents first?

Answer 132

Hyperpigmentation; particularly in the palmar creases, around the nipple areolae and in scar tissue

Question 133

What is the most common cause of primary adrenal insufficiency (Addison's disease) in the UK?

Answer 133

Autoimmune adrenalitis; often seen in patients with history of autoimmune disease, most often T1DM and/or coeliac disease 

Question 134

Outline the main investigation used to diagnose adrenal insufficiency? 

Answer 134

Short synthacten test; administration of synthetic ACTH (synthacten) measure cortisol at 0, 30 and 60 minutes 

Question 135

Outline the investigation used differentiate primary adrenal insufficiency (Addison's disease) from secondary/tertiary adrenal insufficiency?

Answer 135

Plasma ACTH
- Elevated; indicates a primary adrenal insufficiency (Addison's disease) due to lack of feedback suppression via cortisol
- Low/normal; indicates a secondary/tertiary adrenal insufficiency 

Question 136

What abnormality may be seen in the ECG of a patient with aortic dissection?

Answer 136

ST elevation in anterior (V1-V4) and lateral leads (I, aVL, V5, V6) indicative of myocardial ischaemia

Question 137

Outline the most common complications associated with Marfan's syndrome? (3)

Answer 137

- Mitral valve prolapse

- Spontaneous pneumothorax
- Aortic dissection 

Question 138

Which features raise the suspicion of a hereditary breast cancer syndrome? (5)

Answer 138

OBAMA;
- Onset < 50 years
- Bilateral breast cancers
- Ashkenazi Jewish ancestry 
- Male breast cancer 
- Associated cancers; ovarian, peritoneal, fallopian tube 

Question 139

Outline the risk of breast and ovarian cancer in patients with BRCA1 and BRCA2 mutations? (2)

Answer 139

BRCA1
- Breast cancer; 80% lifetime risk 
- Ovarian cancer; 40% lifetime risk

BRCA2
- Breast cancer; 40% lifetime risk
- Ovarian cancer; 10% lifetime risk

Question 140

Outline the most common causes of seizures in a neonate (< 28 days)? (4)

Answer 140

- Hypoxic ischaemic encephalopathy (HIE)
- Intracranial haemorrhage (ICH)
- CNS infections; meningitis
- Metabolic disorders; hypoparathyroidism 

Question 141

What is the most common cause of hypocalcaemia?

Answer 141

Hypoalbuminaemia 

Question 142

Outline the features of tetralogy of fallot (ToF)? (4)

Answer 142

- Overriding aorta
- Pulmonary stenosis 
- Right ventricular hypertrophy 
- Ventricular septal defect (VSD)

Question 143

Outline the two most common diseases associated with congenital cardiac defects? (2)

Answer 143

- Down syndrome; trisomy 21
- DiGeorge syndrome; 22q11 deletion

Question 144

Outline the three main ways that a diagnosis of HIV may be confirmed? (3)

Answer 144

- Genetically; nucleic acid amplification test (NAAT/PCR)
- Serologically; detection of p24 antigen (capsid protein)
- Immunologically; detection of a low CD4⁺ T cell population

Question 145

How long does it take for HIV antibodies to be detectable in the serum?

Answer 145

4-8 weeks 

Question 146

What is the most common cause of a 'funny turn' in a teenager?

Answer 146

Neurally mediated (vasovagal) syncope

Question 147

Outline the paediatric definition of overweight and obese? (2)

Answer 147

- Overweight; a BMI above the 91st centile | - Obese; a BMI above the 98th centile

Question 148

Outline the UK definition of precocious puberty in males and females? (2)

Answer 148

- Females; puberty commencing before the age of 8 years 
- Males; puberty commencing before the age of 9 years 

Question 149

What is the first sign of puberty in males and females? (2)

Answer 149

- Males; enlargement of the testes
- Females; development of the breasts 

Question 150

Outline the investigations used in cases of suspected precocious puberty? (4)

Answer 150

- LH-releasing hormone (LHRH) test; administration of a GnRH agonist
- Wrist X-ray bone aging
- Pelvic ultrasound; in females
- Cranial MRI; in males

Question 151

What is the most common cause of precocious puberty in females?

Answer 151

Usually idiopathic or familial and follows normal sequence of puberty

Question 152

What is the most common cause of precocious puberty in males?

Answer 152

Cranial lesion

Question 153

Outline the treatment of precocious puberty? (2)

Answer 153

- Monthly injections of an LHRH analogue (GnRH agonist) until the age of 11 years 
- Treatment of the underlying cause if identified (i.e. cranial lesion) 

Question 154

What is the main down-side of not treating precocious puberty?

Answer 154

Significant risk of premature fusion of the epiphyses resulting in a short adult height and subsequent psychosocial implications

Question 155

Why is rheumatic heart disease in adulthood often associated with history of unexplained fever and joint pain in childhood?

Answer 155

- Fever and joint pain in childhood raises the suspicion of a rheumatic fever which is a common cause of rheumatic heart disease - This is an infection cause by group A (β-haemolytic) Streptococci most commonly Streptococcus pyogenes

Question 156

What causes rheumatic heart disease to develop secondary to rheumatic fever?

Answer 156

Rheumatic heart disease is a type II hypersensitivity reaction caused by antibody cross-reactivity between between the M protein of group A Streptococcus and cardiac tropomyosin

Question 157

Which valve is most commonly affected in rheumatic heart disease and why? Which murmurs are often associated with it? (2)

Answer 157

- The mitral valve is most commonly affected due to it being the valve with the greatest pressure gradient across it 
- This results in mitral regurgitation (MR) in the early stages of the disease followed by mitral stenosis (MS)

Question 158

Which two murmurs are most commonly seen in rheumatic heart disease? (2)

Answer 158

- Mitral stenosis; mid-diastolic murmur heard best at the apex 
- Aortic regurgitation; early diastolic murmur heard best at end expiration at left sternal edge

Question 159

Which histopathological findings are pathognomonic of rheumatic heart disease?

Answer 159

Aschoff bodies; granulomas found within the all three layers of the heart but predominantly in myocardium and contain giant cells (mainly macrophages) that can develop into Anitschkow cells 

Question 160

Which type of hypersensitivity reaction is seen in rheumatic heart disease?

Answer 160

Type II (antibody-mediated cytotoxic) hypersensitivity

Question 161

What is the definition of sudden cardiac death?

Answer 161

Sudden cardiac death; death occuring within 1-hour of the onset of cardiac symptoms

Question 162

Outline the most common causes of sudden cardiac death in young people and middle-aged/older people? (2)

Answer 162

- Young people; hypertrophic obstructive cardiomyopathy (HOCM)
- Middle-aged/older people; ischaemic heart disease (IHD) +/- myocardial infection (MI)

Question 163

What is the most common mechanism by which sudden cardiac death occurs? 

Answer 163

Fatal arrhythmia triggered by irritability of the myocardium

Question 164

Outline the main complications of myocardial infarction? (6)

Answer 164

THREAD - Tamponade; due to heart muscle/septal rupture - Heart failure; caused oedema - Regurgitation of heart valves; due to rupture of papillary muscles  - Embolism; stroke and mesenteric ischaemia  - Arrhythmia and aneurysm  - Dressler's syndrome; post-MI pericarditis 

Question 165

What is meant by constitutional delay of growth and puberty (CDGP)?

Answer 165

Constitutional delay in growth and puberty (CDGP) is a condition in which children experience delayed puberty compared to their peers of similar age associated with a delay in the pubertal growth spurt

Question 166

Why does the growth spurt in males occur later than in females? (2)

Answer 166

- Females enter puberty, on average, early in their adolescence 
- Testosterone is a poor growth promoter in low concentrations, unlike oestrogen in females

Question 167

What is the threshold tesicular volume that is thought to indicate the transition into puberty?

Answer 167

4 mL 

Question 168

What is the most common cause of virilised female genitalia?

Answer 168

Congenital adrenal hyperplasia (CAH) due to a 21-hydroxylase (21-OH) deficiency

Question 169

Outline the definition of an abdominal aortic aneurysm (AAA)?

Answer 169

An infrarenal aortic diameter that is ≥ 3 cm and involves all three layers of the arterial wall

Question 170

Outline the threshold size of an abdominal aortic aneurysm sufficient for endovascular aneurysm repair (EVAR) surgery?

Answer 170

≥ 5.5 cm

Question 171

Outline the management of abdominal aortic aneurysm (AAA) depending on the size of the aneurysm? (3)

Answer 171

- ≥ 5.5 cm; elective endovascular aneurysm repair (EVAR)
- 4.4cm - 5.5 cm; 3-monthly abdominal ultrasound scans
- < 4.4 cm; 12-monthly abdominal ultrasound scans

Question 172

Why do ruptured abdominal aortic aneurysm (AAAs) commonly present as back and flank pain?

Answer 172

Abdominal aorta is retroperitoneal 

Question 173

Outline the risk factors for abdominal aortic aneurysms (AAAs)? (5)

Answer 173

- Atherosclerosis

- Male sex
- Obesity 

- Smoking
- Hypertension

Question 174

Outline the screening programme currently used in the UK for abdominal aortic aneurysms (AAA)?

Answer 174

A single abdominal ultrasound for
- Males ≥ 65
- Females ≥ 70 who have not already had abdominal imaging with any one of;
  • COPD
  • Vascular disease
  • Positive family history
  • Hyperlipidaemia
  • Hypertension
  • Smoking history 

Question 175

Outline the two cardinal features of chronic obstructive pulmonary disease (COPD)? (2)

Answer 175

-  Chronic bronchitis; a chronic productive cough for at least 3 months over two consecutive years - Emphysema; abnormal airspace enlargement distal to the terminal bronchioles with evidence of destruction of the alveolar wall

Question 176

Outline the most common complications of chronic obstructive pulmonary disease (COPD)? (4)

Answer 176

- Infective exacerbations; reccurent chest infections

- Respiratory failure; usually type 2 respiratory failure due to CO₂ retention
- Cor pulmomale; right-sided heart failure caused by pulmonary hypertension
- Pneumothorax; secondary pneumothoraces

Question 177

Outline the classification of lung cancers?

Answer 177

- Non-small cell lung cancer (NSCLC); 80%
  • Squamous cell carcinoma 
  • Adenocarcinoma
- Small cell lung cancer (SCLC); 20%

Question 178

How does the management of non-small cell (NSCLC) and small cell lung cancer (SCLC) differ?

Answer 178

- Surgery is offered first-line for non-small cell lung cancers (NSCLCs) - Chemoradiotherapy is only treatment choice for small cell lung cancers (SCLCs)

Question 179

Why is gynaecomastia common in pubertal males?

Answer 179

Gynaecomastia can be common in pubertal males due to a decreased ratio of testosterone to oestrogen levels 

Question 180

Outline the investigations that may be used in a case of pubertal gynaecomastia? (2)

Answer 180

- Serum gonadotropins; LH and FSH
- Serum sex hormones; testosterone and oestrogen

Question 181

What feature of pubertal gynaecomastia in a male would raise the suspicion of a prolactinoma?

Answer 181

Galatorrhoea alongside the features of gynaecomastia

Question 182

What is the most common cause of rickets?

Answer 182

Secondary to inadequate sun exposure coupled with poor nutrition 

Question 183

Outline the most common clinical signs of rickets? (4)

Answer 183

- Bow-legs
- Swollen wrists
- Frontal bossing 
- Ricket rosary (prominent costochondral junctions)

Question 184

Which kind of anaemia is classically seen in iron deficiency?

Answer 184

Microcytic hypochromic anaemia with low ferritin and a raised total iron binding coefficient (TIBC)

Question 185

Which kind of anaemia is most commonly associated with rickets?

Answer 185

Iron deficiency anaemia (IDA) as rickets often arises due to poor diet which is a common association with IDA

Question 186

Outline the classical symptoms associated with anti-GBM disease (Goodpasture's syndrome)? (2)

Answer 186

- Haematuria
- Haemoptysis

Question 187

Outline the main organ systems classically affected by anti-GBM disease (Goodpasture's syndrome)? (2)

Answer 187

- Renal; glomerulonephritis (nephritic syndrome) 
- Pulmonary; haemorrhage (haemoptysis) 

Question 188

Outline the main diagnostic tests that can be used in anti-GBM disease (Goodpasture's syndrome)? (2)

Answer 188

- Anti-glomerular basement membrane (anti-GBM) antibody test; ELISA looking for anti-GBM - Renal biopsy; light microscopy may show crescentic glomerulonephritis

Question 189

Which type of hypersensitivity reaction is seen in anti-GBM disease (Goodpasture's syndrome)?

Answer 189

Type II hypersensitivity (antibody mediated)

Question 190

To which antigen are the antibodies seen in anti-GBM (Goodpastures syndrome) directed against?

Answer 190

IgG antibodies are directed against the non-collagenous domain (NCI) of the α₃ chain of collagen IV

Question 191

Outline the main treatment approaches used in anti-GBM disease (Goodpasture's syndrome)? (2)

Answer 191

- Plasmapheresis; removal of the patients plasma replacing it with human albumin solution (HAS) in order to remove circulating autoantibodies  - Immunosuppression; usually steroids combined with cyclophosphamide

Question 192

Which two investigations can be diagnostic for multiple sclerosis? (2)

Answer 192

- Contrast-enhanced MRI head; enhancing lesions in the periventricular areas  - CSF electrophoresis; oligoclonal immunoglobulin G bands 

Question 193

Where in the brain are demylinating lesions associated with multiple sclerosis (MS) most commonly found?

Answer 193

In the periventricular areas particularly the white matter tracts

Question 194

Outline the type of visual loss associated with multiple sclerosis?

Answer 194

Usually unilateral (monocular) painful visual loss associated with diplopia indicative of optic neuritis

Question 195

Which imaging modalities can be used to distinguish vascular dementia from Alzheimer's disease? (2)

Answer 195

- Single photon emission computed tomography (SPECT); can show evidence of metabolic activity inkeeping with vascular dementia 
- Positron emission tomography (PET); can show evidence of metabolic activity inkeeping with vascular dementia 

Question 196

Outline the features of dementia with Lewy bodies (DLB)? (4)

Answer 196

- Progressive cognitive decline
- Visual hallucinations 
- Rapid eye movement sleep (REM) disturbances
- Parkinsonism; bradykinesia, rigidity, tremor 

Question 197

What is the difference between dementia with Lewy bodies (DLB) and Parkinson's disease dementia (PDD)? 

Answer 197

- Dementia with Lewy bodies (DLB) is a tau-(τ)-opathy defined as the onset of cognitive decline within 1 year of a diagnosis of parkinsonism - Parkinson's disease dementia (PDD) is an α-synucleinopathy defined by the onset of cognitive decline at least 1 year after a diagnosis of parkinsonism 

Question 198

Outline the macroscopic features seen in the brains of patients with Alzheimer's disease? (2)

Answer 198

- Cortical atrophy; characterised by atrophy of sulci and widening of gyri
- Dilation of the ventricles; secondary to parenchymal loss 

Question 199

What is the most common cause of hyperthyroidism in children and adolescents?

Answer 199

Graves' disease

Question 200

Outline the typical age of presentation for infants with pyloric stenosis?

Answer 200

Between 2-8 weeks

Question 201

Outline the typical acid-base disorder associated with pyloric stenosis?

Answer 201

Hypokalaemic metabolic alkalosis with increased base excesss

Question 202

Why is hypokalaemia classically associated with persistent vomiting? (2)

Answer 202

- The kidneys attempt to reabsorb H⁺ from the tubular fluid to compensate for that that is being lost in the vomit
- This occurs in exchange for K⁺ secretion into the tubular fluid

Question 203

Outline the most common differential diagnoses for non-bilious vomiting in an infant? (7)

Answer 203

- Pyloric stenosis - Gastro-oesophageal reflux disease (GORD) - Gastritis - Urinary tract infection (UTI) - Overfeeding  - Cow's milk protein allergy/intolerance - Tracheo-oesophageal fistula

Question 204

Outline the definitive treatment used in pyloric stenosis?

Answer 204

Pyloromyotomy; either open (Ramsted's pyloromyotomy) or laparoscopic 

Question 205

Outline the peak age range for a presentation of intussusception?

Answer 205

3 months to 3 years

Question 206

Which biochemical finding is classically associated with dehydration?

Answer 206

Raised urea

Question 207

Which imaging modality is preferred when investigating a diagnosis of intussusception?

Answer 207

Abdominal ultrasound

Question 208

Outline the management of intussusception? (3)

Answer 208

- Drip & suck; as with any other case of bowel obstruction, fluids to correct dehydration and NG tube to decompress the stomach
- Intravenous antibiotics; penicillin, gentamicin and metronidazole due to risk of perforation or sepsis 
- Pneumatic reduction; this utilises air to resolve the intussusception and is carried out under fluoroscopic guidance

Question 209

Outline the main differentials for rectal bleeding in a child? (9)

Answer 209

- Gastroenteritis 
- Anal fissure
- Intussusception
- Cow's milk protein allergy/intolerance
- Meckel's diverticulum 
- Inflammatory bowel disease
- Polyps 
- Clotting abnormalities
- Sexual abuse 

Question 210

What is the pathophysiological difference between bilious and non-bilious vomiting? (2)

Answer 210

- Non-bilious vomiting occurs where there is an obstruction proximal to the duodenum - Bilious vomiting occurs where there is an an obstruction distal to the duodenum

Question 211

Outline the two main aetiological factors that predispose to peptic ulceration? (2)

Answer 211

- Gastric acid hypersecretion 
- Damage to the mucosal barrier 

Question 212

How can cholecystitis be differentiated from biliary colic (cholelithiasis)? (3)

Answer 212

Cholecystitis; - More likely to present with a fever in addition to the RUQ pain, nausea and vomiting  - More likely to present with elevated inflammatory markers, systemic malaise and peritoneal irritation  - Pain is more often constant and severe whereas in biliary colic it tends to be transient

Question 213

What is the link between biliary colic due to cholelithiasis and acute cholecystitis?

Answer 213

Repeated episodes of biliary colic due to cholelithiasis can cause acute cholecystitis due to inflammation of the gallbladder wall

Question 214

Outline the aetiology of coeliac disease?

Answer 214

Coeliac disease is caused by a sensitivity to the protein component of gluten which is known as gliadin 

Question 215

What is the gold-standard investigation required for a diagnosis of coeliac disease and what would it show?

Answer 215

Duodenal/jejunal biopsy; showing villous atrophy and blunting, crypt hyperterophy and intraepithelial lymphocytosis 

Question 216

Which autoantibodies are associated with coeliac disease? (2)

Answer 216

- Anti-endomysial antibodies
- Anti-tissue transglutaminase (TTG) antibodies

Question 217

What key features differentiate inflammatory bowel disease (IBD) from irritable bowel syndrome (IBS)? (3)

Answer 217

Irritable bowel syndrome (IBS) - Does not lead to weight loss - No associated fevers  - Normal blood results  Inflammatory bowel disease (IBD) - Weight loss is a common feature - Associated with fevers  - Abnormal blood results

Question 218

Why is it important to examine the anus in cases of suspected Crohn’s disease?

Answer 218

Perianal disease such as skin tags, abscess and fistulae are present in 45% of patients

Question 219

Why is it that patients with inflammatory bowel disease (IBD) often have low albumin?

Answer 219

Due to malabsorption of protein and subsequent protein loss in the stool

Question 220

Outline the typical anaemia seen in patients with inflammatory bowel disease (IBD)? 

Answer 220

Iron deficiency anaemia (IDA); microcytic anaemia with low ferritin 

Question 221

What are the implications of inflammatory bowel disease (IBD) on growth and development?

Answer 221

Growth failure (e.g. dropping centiles, small for age) and delayed puberty are common

Question 222

Outline the most common extra-intestinal manifestations of Crohn's disease? (3)

Answer 222

- Arthritis; typically affecting the large joints which occurs in around 10% of cases
- Erythema nodosum/pyoderma gangrenosum
- Episcleritis/uveitis; all patients require ophthalmic examination

Question 223

Outline the essential investigations for a child with suspected inflammatory bowel disease (IBD)? (3)

Answer 223

- Colonoscopy; with colonic and terminal ileal biopsies - Upper gastrointestinal endoscopy; upper tract disease can be present in Crohn's disease - Faecal calprotectin; sensitive marker for inflammation in the gastrointestinal tract

Question 224

Outline the fluid volume given over 24 hours for paediatric patients with dehydration? (2)

Answer 224

- No signs of shock; 50 mL kg^-1 per 24 hours 
- Signs of shock; 100 mL kg^-1 per 24 hours 

Question 225

What is the most common cause of acute onset diarrhoea in children?

Answer 225

Viral gastroenteritis; norovirus, adenoviruses, rotavirus 

Question 226

Outline the broad classes of aetiologies that can cause bloody diarrhoea in adults? (2)

Answer 226

- Infectious; bacterial, viral or protozoal | Non-infectious; inflammatory bowel disease (IBD), ischaemic bowel disease, diverticular disease, polyps, haemorrhoids

Question 227

What is the major long-term complication of inflammatory bowel disease (IBD)?

Answer 227

Increased risk of colorectal cancer due to long-standing chronic inflammation

Question 228

Outine the differences in presentation of right and left-sided colorectal tumours? (2)

Answer 228

- Right-sided tumours often present later often only with signs of anaemia, these tumours are often large due to the space available in the caecum
- Left-sided tumours present much earlier due to presence of fresh bleeding/mucus visible in the stool alongside associated rectal pain 

Question 229

Which staging system is now commonly used to grade a variety of tumours pathologically?

Answer 229

TNM Staging  - Tumour size - Nodal involvement  - Metastases 

Question 230

Outline the most common causes of pancreatitis? (2)

Answer 230

- Alcohol excess
- Gallstones (cholelithiasis)

Question 231

Outline the key differentials for epigastric (foregut) pain? (6)

Answer 231

- Pancreatitis 
- Gastritis 
- Peptic ulcer disease (PUD)
- Cholelithiasis 
- Cholecystitis
- Hepatitis 

Question 232

Which two features are needed for a diagnosis of pancreatitis? (2)

Answer 232

- Severe epigastric pain 
- Markedly elevated serum amylase or serum lipase

Question 233

Outline the pathophysiology of pancreatitis?

Answer 233

Inappropriate activation of pancreatic pro-enzymes and leakage into the parenchyma resulting in inflammation

Question 234

How can chronic pancreatitis be differentiated from acute pancreatitis aside from the duration of symptoms?

Answer 234

- Acute pancreatitis; histology is needed to see atrophy and fibrosis  - Chronic pancreatitis; chronic inflammation results in calcification which can be seen on a CT abdomen

Question 235

Outline the triad of features associated with appendicitis? (3)

Answer 235

- RIF pain  - Vomiting  - Low-grade fever

Question 236

Outline the main complication associated with acute appendicitis?

Answer 236

Perforation and subsequent peritonitis

Question 237

What is meant by chronic abdominal pain of childhood/recurrent abdmoinal pain (RAP)?

Answer 237

Chronic abdominal pain of childhood or recurrent abdominal pain (RAP) is a benign, very common but potentially debilitating condition characterised by recurrent episodes of abdominal pain with no clear organic cause. Hence it is a diagnosis of exclusion with the commonest cause being psychosomatic

Question 238

What is the most common cause of constipation in children?

Answer 238

Functional constipation; associated with faecal masses in the lower abdomen

Question 239

Outline the management of constipation in children? (3)

Answer 239

- First-line; dietary advice, hydration ect.
- Second-line; osmotic laxative such as Movicol 
- Third-line; add stimulant laxative such as Senna 

Question 240

What is the widely-used definition of failure to thrive in children under 2-years of age?

Answer 240

A current weight, or rate of weight gain, that is significantly below what is normal for a child of that age and sex

Question 241

What is the most common cause of a failure to thrive?

Answer 241

Poor nutrient intake

Question 242

Which test is vital to carry out alongside a tissue-transglutaminase (anti-TTG) when suspecting coeliac disease and why?

Answer 242

Serum immunoglobulin A (IgA); anti-TTG is an IgA antibody and hence a concurrent IgA deficiency may mask the diagnosis and produce a false negative diagnosis of coeliac disease

Question 243

What kind of antibody is the anti-tissue transglutaminase (anti-TTG) antibody?

Answer 243

IgA

Question 244

Which specific antibodies can be tested for when investigating a patient for coeliac disease? (2)

Answer 244

- Anti-tissue transglutaminase (anti-TTG)
- Anti-endomysial antibody (EMA)

Question 245

Outline the examination findings consistent with 'cerebellar signs'? (6)

Answer 245

DANISH
- Disdiachokinesia
- Ataxia
- Nystagmus 
- Intention tremor
- Slurred speech
- Hypotonia

Question 246

Why should caution be exercised when considering giving steroids to patients with malignancies, particularly haematological malignancies?

Answer 246

Steroid administration can promote development of tumour lysis syndrome (TLS)

Question 247

Broadly speaking, how can you distinguish between liver or bone-related causes of a raised ALP?

Answer 247

Serum γGT - Raised γGT and raised ALP; indicates hepatic release of ALP - Normal γGT and raised ALP; suggests bone (or placental) release of ALP 

Question 248

What is the most common cause of an isolated hyperbilirubinaemia?

Answer 248

Gilbert syndrome; due to a mutation in the promoter region of the uridine diphosphoglucuronate-glucuronosyltransferase 1A1 (UGT1A1) gene 

Question 249

Outline the triad of biochemical features associated with alcoholic hepatitis? (3)

Answer 249

- Raised transaminases (AST & ALT) - AST/ALT ratio > 1.5:1 - Raised γ-GT 

Question 250

Outline the spectrum of conditions covered by the term alcohol-related liver disease (ArLD)? (3)

Answer 250

- Alcoholic fatty liver
- Alcoholic hepatitis 
- Alcoholic liver cirrhosis 

Question 251

Which stages of alcohol-related liver disease (ArLD) are reversible?

Answer 251

Alcoholic fatty liver disease and alcoholic hepatitis are reversible

Question 252

What is the main pathological finding in patients with alcoholic fatty liver and alcoholic hepatitis?

Answer 252

Centrilobular fatty infiltration into hepatocytes 

Question 253

Describe the pathophysiology of ascites in alcohol-related liver disease? (2)

Answer 253

- Cirrhosis and scarring of the liver leads to portal hypertension which increases capillary hydrostatic pressure forcing fluid out into the tissues 
- Hypoalbuminaemia due to the reduced synthetic function of the liver reduces the oncotic pressure for fluid reabsorption from the tissues

Question 254

Describe the macroscopic appearance of the liver in patients with cirrhosis?

Answer 254

Often will be shrunken and nodular due to the fibrosis

Question 255

What type of ascitic fluid is associated with alcohol-related liver disease (ArLD)?

Answer 255

Trasudative; high protein content due to portal hypertension and hypoalbuminaemia

Question 256

How can you differentiate exudative and transudative ascites? (4)

Answer 256

- Calculate the serum ascitic albumin gradient (SAAG)
- SAAG = [serum albumin] - [ascitic fluid albumin]
  • > 1.1 g dL^-1; transudative
  • < 1.1 g dL^-1; exudative 

Question 257

Broadly speaking, what is the pathophysiology behind the specific problems seen in cystic fibrosis? (2)

Answer 257

- Loss of function of the cystic fibrosis transmembrane conductance regulator (CFTR) protein decreases Cl^- efflux into the lumen of the airways/ducts - This decreases the amount of water present in secretions which increases the viscosity and hence causes blockages and failure to clear pathogens 

Question 258

What is the significance of renal casts detected in the urine?

Answer 258

Presence of casts indicates renal parenchymal damage

Question 259

Outline the main types of urinary casts and what they may indicate? (3)

Answer 259

- Leukocytic casts; indicate infection of the renal parenchyma 
- Tubular casts; indicates glomerulonephritis (nephritic syndrome) 
- Granular casts; indicate chronic parenchymal pathology (chronic pyelonephritis)

Question 260

Which chronic condition can be associated with a predisposition to pyelonephritis?

Answer 260

Non-insulin dependant diabetes mellitus (NIDDM)/type 2 diabetes mellitus (T2DM)

Question 261

Outline the two cardinal features of pyelonephritis? (2)

Answer 261

- Fever
- Loin pain

Question 262

Outline the classical appearance of the kidneys in patients with chronic pyelonephritis?

Answer 262

Asymmetrically contracted kidneys with unilateral coarse scarring

Question 263

Which features in the history may enable you to differentiate pre and post-hepatic causes of jaundice?

Answer 263

Stool and urine pigmentation 
- Pre-hepatic jaundice; normally pigmented stools and urine 
- Post-hepatic jaundice; pale stools, dark urine 

Question 264

What is the most common cause of acute hepatitis in older children and adults?

Answer 264

Hepatitis A 

Question 265

What is the most common cause of a swelling in the groin of a child?

Answer 265

Lymph node; small, mobile and lie inferolaterally in the groin

Question 266

Which single group of paediatric patients have a 30% risk of developing and inguinal hernia?

Answer 266

Pre-term infants; especially those with very low birth weight

Question 267

What is the most common cause of an inguinal hernia in a child?

Answer 267

Failure of obliteration of the processus vaginalis 

Question 268

Which two conditions are associated with a failure processus vaginalis obliteration? (2)

Answer 268

- Hydrocoele; due to a failure of obliteration of the distal end of the processus vaginalis - Inguinal hernia; due to a failure of obliteration of the proximal end of the processus vaginalis

Question 269

Outline the management of inguinal hernias in infants?

Answer 269

In young babies (< 6 months), the hernia should be operated on within 2-weeks of presentation, as there is a high risk (50%) of strangulation.

Question 270

Outline the difference in presentations of a urinary tract infections (UTI) in infants and older children? (2)

Answer 270

- Infants; fever, vomiting, lethargy, irritability and poor feeding
- Older children; frequency, dysuria, abdominal or loin pain and fever

Question 271

When is a urinary tract ultrasound indicated in children with urinary tract infections (UTIs)? (2)

Answer 271

- Infants < 6 months of age  | - Children > 6 months with severe, atypical and/or recurrent UTIs

Question 272

What is the threshold for conducting urinalysis in children?

Answer 272

Any unwell and febrile child should have urinalysis performed

Question 273

Outline the most common causes of haematuria in children? (3)

Answer 273

- Urinary tract infections (UTIs)
- Post-Streptococcal Glomerulonephritis (PSGN)
- Henoch-Schönlein purpura (HSP)

Question 274

Which conditions are associated with group A (β-haemolytic) Streptococci, most notably Streptococcus pyogenes? (6)

Answer 274

- Rheumatic fever/rheumatic heart disease
- Upper respiratory tract infections (URTIs); 'Strep throat'
- Necrotising fasciitis 
- Scarlett fever 
- Post-streptococcal glomerulonephritis
- Impetigo 

Question 275

Which two tests will be particularly useful in diagnosing post-streptococcal glomerulonephritis? (2)

Answer 275

- Anti-streptolysin O titre (ASOT); raised in post-streptococcal glomerulonephritis
- C3 and C4 levels; C3 will be reduced in post-streptococcal glomerulonephritis

Question 276

Outline the classical presentation of post-streptococcal glomerulonephritis (PSGN)?

Answer 276

A child with visible haematuria +/- acute severe nephritic syndrome presenting 7-14 days after a recent upper respiratory tract infection (URTI)

Question 277

Which two specific nephritic syndromes can occur following an upper respiratory tract infection (URTI)? (2)

Answer 277

- Post-streptococcal glomerulonephritis 
- IgA nephropathy 

Question 278

Briefly describe the pathophysiology of post-streptococcal glomerulonephritis (PSGN)? 

Answer 278

A nephritic syndrome caused by a type III hypersensitivity reaction mediated by immune complex deposition (mainly IgG, IgM and C3) in the glomeruli

Question 279

What is the most common cause of nephritic syndrome in children?

Answer 279

Post-streptococcal glomerulonephritis (PSGN)

Question 280

How can you differentiate post-streptococcal glomerulonephritis (PSGN) from IgA nephropathy? (3)

Answer 280

Post-Streptococcal Glomerulonephritis (PSGN)
- Low complement C3 and C4 levels
- Main symptom is proteinuria (although haematuria can occur)
- Longer interval between URTI and the onset of renal problems 

Question 281

Outline the main investigations that should be carried out in a patient with nephrotic syndrome? (6)

Answer 281

- Cholesterol and triglyceride levels; elevated in nephrotic syndrome - Anti-streptolysin O titre (ASOT); ; investigate potential post-streptococcal disease - C3/C4 levels; investigate potential post-streptococcal disease - Antinuclear antibody (ANA); may be positive in vasculitides such as systemic lupus erythematosus (SLE) - Viral serology; HBV, VZV and measles virus - Blood cultures; if febrile - Urine; microscopy, culture and sensitivity (MC&S), spot urine protein:creatinine ratio 

Question 282

Broadly speaking, ouline the management of nephrotic syndrome in children?

Answer 282

High dose oral steroids; around 90% of cases respond, although there is a 70% chance of relapse

Question 283

What is the most widely-used threshold value for prostate specific antigen (PSA) that warrants further investigation?

Answer 283

A PSA ≥ 4 ng mL^-1 should raise suspicion 

Question 284

Which test is required in addition to serum PSA and a digital rectal examination (DRE) to investigate potential prostate cancer?

Answer 284

Biopsy; either transrectal or transperineal core biopsies

Question 285

Outline how the Gleason score is calculated for patients with prostate cancer?

Answer 285

Gleason Score = [most predominant grading pattern] + [most advanced grading pattern]

Question 286

Where do the majority of aggressive prostate cancers most commonly spread to? 

Answer 286

Lumbar vertebrae

Question 287

Outline the managment of prostate cancer in regards to its Gleason score? (3)

Answer 287

- ≤ 6; active surveillance 
- 7; radical prostatectomy +/- radical radiotherapy 
- 8-10; radical prostatectomy and radical radiotherapy 

Question 288

Outline the specific testicular tumour markers and the specific type of tumour they are associated with? (3)

Answer 288

- Serum LDH; elevated in seminomas
- Serum AFP; elevated in yolk-sac tumours
- Serum β-hCG; elevated in choriocarcinoma 

Question 289

Why is it that multiple testicular tumour markers are often elevated in the same patient?

Answer 289

Testicular tumours frequently occur in mixed forms with multiple different subtypes of tumours present at once

Question 290

What percentage of testicular tumours are malignant?

Answer 290

Around 95% 

Question 291

Outline the two broad classes of testicular tumours and their relative severity? (2)

Answer 291

Germ cell tumours (95%); malignant  | - Non-germ cell tumours; (5%); often benign

Question 292

Outline the subtypes of testicular germ cell tumours? (2)

Answer 292

- Seminomas; classical, spermatocytic, anaplastic - Non-seminomatous germ cell tumours (NSGCT) • Embryonal carcinoma • Yolk sac tumours • Choriocarcinoma • Teratoma

Question 293

What are the most common benign tumours that affect females?

Answer 293

Uterine fibroids (leiomyomas)

Question 294

Which type of uterine fibroids are most commonly associated with infertility?

Answer 294

Submucosal fibroids; these are located immediately beneath the endometrium where they may distort the uterine cavity

Question 295

What is the most common type of cervical cancer?

Answer 295

Squamous cell carcinoma (SCC); accounts for around 85%

Question 296

What is the definition of nocturnal enuresis?

Answer 296

Involuntary voiding of urine during sleep at least 3 times per week in a child aged 5 years or older

Question 297

Outline the three main aetiologies behind primary nocturnal enuresis? (3)

Answer 297

- Lack of arousal from sleep - Bladder instability/low functional bladder capacity - Nocturnal polyuria; due to low vasopressin (ADH) 

Question 298

What is the definition of secondary nocturnal enuresis?

Answer 298

Nocturnal enuresis following a ≥ 6 month period of dryness 

Question 299

Outline the most common causes of secondary enuresis? (4)

Answer 299

- Constipation
- Urinary tract infection (UTI)
- Diabetes mellitus 
- Psychosocial stresses 

Question 300

Which two aspects of the history are vital to obtain in a patient with nocturnal enuresis? (2)

Answer 300

- Presence of daytime symptoms; urgency, frequency, dysuria or wetting - Primary or secondary; was there a ≥ 6 month interval of dryness 

Question 301

What is the most common cause of hypertension in a pubertal child?

Answer 301

Essential (idiopathic) hypertension most common in the context of obesity 

Question 302

What is the most common cause of hypertension in a pre-pubertal child?

Answer 302

Renal disease; renal artery stenosis, glomerulonephritis

Question 303

Which additional differentials should be considered in the case of a child with a fever who has recently returned from abroad? (3)

Answer 303

- Malaria; returning from a malaria-endemic area is malaria until proven otherwise
- Dengue fever; caused by the dengue virus 
- Typhoid fever; caused by Salmonella typhi

Question 304

Which common full blood count (FBC) abnormality can be associated with malaria?

Answer 304

Thrombocytopenia

Question 305

Outline the diagnostic criteria in Kawasaki disease? (6)

Answer 305

- Fever for ≥ 5 days PLUS
- ≥ 4 of the following
  • Non-purulent conjunctivitis  
  • Cervical lymphadenopathy 
  • Skin rash 
  • Erythema of the oral and pharyngeal mucosae
  • Erythema of the hands and feet followed by desquamation

Question 306

Outline the main aetiologies of a prolonged fever in a child (lasting > 7 days)? (4)

Answer 306

- Infection; tuberculosis, HIV, Kawasaki disease
- Malignancy; lymphoma, leukaemia, renal tumours 
- Autoimmune disease; juvenile idiopathic arthritis (JIA)
- Miscellaneous; inflammatory bowel disease (IBD), drugs

Question 307

What is the main complication associated with Kawasaki disease?

Answer 307

Coronary artery aneurysms 

Question 308

Outline the management of Kawasaki disease? (2)

Answer 308

- High dose oral aspirin for 2 weeks or until afebrile, then lower dose for 6-8 weeks 
- 1 dose of intravenous immunoglobulin within 10 days of onset of symptoms 

Question 309

Outline the causes of a primary immunodeficiency? (6)

Answer 309

- Antibody (immunoglobulin) deficiency  - Complement deficiency  - Cellular immune deficiency  - Innate immune system defects  - Neutropenia  - Chronic granulomatous disease

Question 310

Outline the causes of a secondary immunodeficiency? (6)

Answer 310

- HIV
- Immunosuppressive drugs
- Malnutrition 
- Hyposplenism 
- Cystic fibrosis
- Anatomical abnormalities; skull base defect, fistulae ect. 

Question 311

What is the gold-standard diagnostic test used in patients with tuberculosis?

Answer 311

Histopathological confirmation of mycobacteria from a positive sputum smear or culture

Question 312

Outline the two tests that can be carried out to investigate prior exposure to tuberculosis? (2)

Answer 312

- Tuberculin skin test (Mantoux test); intradermal injection of tuberculin protein triggers a type IV delayed hypersensitivity reaction that causes skin thickening  - Interferon gamma release assay (IGRA); blood test to quantify IFNγ release from T_H1 cells in response to mycobacteria antigens in an attempt to activate M1 macrophages

Question 313

Outline the management of active tuberculosis? (4)

Answer 313

RIPE - Rifampicin; for 6 months - Isoniazid; for 6 months  - Pyrazinamide; for 2 months  - Ethambutol; for 2 months 

Question 314

Why is pyridoxine given alonside isoniazid in patients undergoing treatment for tuberculosis?

Answer 314

Isoniazid can cause peripheral neuropathy (tingling in the hands and feet), pyridoxine is a vitamin B₆ analogue that acts to prevent this 

Question 315

What is the difference between active and latent tuberculosis? (2)

Answer 315

- Active tuberculosis; infection with tuberculosis that causes disease 
- Latent tuberculosis; infection with tuberculosis that does not cause disease

Question 316

Outline the dignostic criteria for sepsis in a child? (7) 

Answer 316

- Suspected or proven infection AND
- At least 2 of the following

  • Altered mental state/reduced GCS

  • Fever or hypothermia

  • Inappropriate tachycardia

  • Inappropriate tachypnoea

  • Prolonged capillary refill time

  • Abnormal white cell count

Question 317

Outline the definition of septic shock in a child?

Answer 317

Sepsis with hypoperfusion despite appropriate (e.g. ≥30 mL kg^-1) fluid therapy

Question 318

Outline the breast screening programme in the UK? (2)

Answer 318

- Most patients; mammogram (X-ray) or breast ultrasound every 3 years from age 50-71 - Family history of breast or ovarian cancer; mammogram (X-ray) or breast ultrasound every 3 years from age 40

Question 319

Which breast cancer screening tests are preferred for younger versus old women and why? (2)

Answer 319

- Younger women; breast ultrasound is preffered as they have more glandular tissue which is better picked up by USS
- Older women; mammography is preffered as the breast contains more fatty tissue and is less dense

Question 320

Which investigation is considered the standard for assessing a suspicious breast lump?

Answer 320

Core biopsy 

Question 321

Which investigation is considered the standard for assessing an axillary lymph node in cases of suspected breast cancer?

Answer 321

Fine needle aspiration (FNA) with ultrasound-guided biopsy 

Question 322

Broadly speaking what are the two main histological classifications of breast cancer? (2)

Answer 322

- In situ carcinoma  | - Invasive (infiltrating) carcinoma 

Question 323

What is the most common type of breast cancer?

Answer 323

Invasive ductal carcinoma; accounts for around 75% of breast cancer cases

Question 324

Roughly speaking, what is the 10-year disease-free survival rate of breast cancer with lymph node involvement?

Answer 324

Between 70-80%

Question 325

What are the three main aetiologies associated with granulomatous disease? (3)

Answer 325

- Infectious; mycobacteria, cryptococccus, histoplasma - Foreign bodies; suture material, surgical prosthetics - Inflammatory; Crohn's disease, sarcoidosis

Question 326

Which three organisms are most commonly associated with granulomatous inflammation? (3)

Answer 326

MHC;

- Mycobacteria
- Histoplasma
- Cryptococcus 

Question 327

Which special stains can be used to identify mycobacteria? (2)

Answer 327

- Ziehl-Neelsen; acid-fast bacili (AFB) | - Auramine stain; quicker turnaround

Question 328

Which special stain can be used to identify fungal pathogens?

Answer 328

Silver stain

Question 329

Why is serum angiotensin converting enzyme (ACE) elevated in sarcoidosis?

Answer 329

Epithelioid cells contained within the granulomata are modified macrophages that express the ACE enzyme 

Question 330

Why can serum calcium become elevated in patients with sarcoidosis?

Answer 330

Sarcoidal macrophages (epithelioid cells) express 1α-hydroxylase which increases the generation of activated vitamin D (calcitriol) which in turn promotes calcium reabsorption in the gut as well as increased bone turnover

Question 331

What is the first-line investigation used in patients with palpable lymph nodes?

Answer 331

Fine needle aspiration (FNA)

Question 332

Which feature in the growth of a melanoma indicates the acquisition of metastatic properties?

Answer 332

Switch from radial (horizontal) growth to vertical growth causing the lesion to become raised 

Question 333

Outline the classical appearance of scabes excoriations?

Answer 333

Burrows, papules, and vesicles affecting palms, soles, axilla and scalp

Question 334

Outline the pathognomonic features of scabies?

Answer 334

Thread-like, linear burrows, typically in the finger webs and wrists

Question 335

Which medication is often used to treat scabies infestations?

Answer 335

Permethrin; a type I synthetic pyrethroid that prevents deactivation of voltage-gated Na⁺ channels resulting in excitotoxicity of the Sarcoptes scabiei mite

Question 336

What causes eczema herpeticum?

Answer 336

Infection of eczematous skin with herpes simplex virus (HSV)

Question 337

Which organism is most commonly associated with an acute deterioration of eczema?

Answer 337

Staphylococcus aureus

Question 338

What is the most common cause of blistering skin lesions present at birth?

Answer 338

Epidermolysis bullosa 

Question 339

Outline the differences between bullous impetigo and staphylococcal scalded-skin syndrome (SSSS)? (2)

Answer 339

- Bullous impetigo is the localised presentation of a Staphylococcal infection whereas staphylococcal scalded-skin syndrome (SSSS) is a systemic presentation - Staphylococcus aureus can be cultured from bullous impetigo lesions but SSSS is mediated by exfoliative toxins and thus skin swabs are often sterile

Question 340

Outline the first-line treatment of an umbilical granuloma?

Answer 340

Cauterisation using a silver nitrate stick

Question 341

Which age group is most commonly affected by Henoch–Schönlein purpura (HSP)?

Answer 341

Children 4-7 years of age 

Question 342

Briefly describe the pathophysiology of Henoch-Schönlein purpura (HSP)?

Answer 342

Leukocytoclastic vasculitis (LCV) affecting the small blood vessels caused by the deposition of IgA immune complexes within the basement membrane of blood vessels that can activate complement and other inflammatory pathways.

Question 343

Outline the cardinal symptoms of Henoch-Schönlein purpura (HSP)? (4)

Answer 343

- Palpable purpura; often with symmetrical distribution over the lower limbs - Abdominal pain  - Renal involvement; commonly proteinuria and haematuria - Joint pain and/or inflammation

Question 344

What is the most common systemic vasculitis in children?

Answer 344

Henoch–Schönlein purpura (HSP)

Question 345

Which specific condition are children with Henoch–Schönlein purpura (HSP) particularly at risk of?

Answer 345

Intussusception; hence an abdominal ultrasound is required +/- surgical review

Question 346

How long after a diagnosis of Henoch–Schönlein purpura (HSP) should children be followed up for?

Answer 346

Patients should be followed up for upto 12 months as renal complications may occur up to this time point

Question 347

What is the threshold for a diagnosis of low birth weight in a neonate?

Answer 347

Any neonate < 2.5 kg (5 lbs 8 oz) is considered to be of low birth weight

Question 348

How may you differentiate an upper gastrointestinal bleed (UGIB) from a lower gastrointestinal bleed (LGIB)?

Answer 348

Upper gastrointestinal bleeds (UGIB) often cause an elevated urea due to the digestion of blood as it passes through the digestive tract 

Question 349

What is the difference between the anaemia seen in an upper gastrointestinal bleed (UGIB) compared to an anaemia due to haemolysis?

Answer 349

- Upper gastrointestinal bleeds (UGIB) cause a normocytic anaemia with raised urea
- Anaemia secondary to haemolysis causes a normocytic anaemia with raised bilirubin 

Question 350

What is the most common eletrolyte abnormality that causes nausea and vomiting in oncology patients?

Answer 350

Hypercalcaemia

Question 351

Outline the difference between acute and chronic blood loss in terms of the type of anaemia? (2)

Answer 351

- Acute blood loss; normochromic normocytic anaemia 
- Chronic blood loss; hypochromic microcytic anaemia 

Question 352

What are the most common causes of iron-deficiency anaemia (IDA) in men and women? (2)

Answer 352

- Men; chronic gastrointestinal blood loss
- Women; menorrhagia 

Question 353

Why might ferritin levels be normal in a patient with iron-deficiency anaemia (IDA)?

Answer 353

Because ferritin is an acute phase reactant, it may be falsely elevated in acute inflammation and/or infection

Question 354

What is the most commonly used threshold haemoglobin concentration needed for a transfusion to be indicated?

Answer 354

Hb < 80 g dL^-1

Question 355

What one aspect of a patients blood work is the most reliable indication of iron-deficiency anaemia (IDA)?

Answer 355

Elevated transferrin levels; upregulated in an attempt to compensate for decrease iron levels  

Question 356

Outline the specific causes of a lymphocytosis (elevated lymphocyte count)? (5)

Answer 356

- Infections
- Chronic lymphocytic leukaemia (CLL)
- Acute lymphoblastic leukaemia (ALL)
- Non-Hodgkin's lymphoma (NHL)
- Thyrotoxicosis

Question 357

What is the most common form of leukaemia in the Western World?

Answer 357

Chronic lymphocytic leukaemia (CLL)

Question 358

Outline the classical immunophenotypic profile indicative of chronic lymphocytic leukaemia (CLL)?

Answer 358

CD5, CD20 and CD23 positive

Question 359

Which abnormal cell type seen in a blood film is classicaly associated with chronic lymphocytic leukaemia (CLL)?

Answer 359

Smudge/smear cells; cell remnants that arise during slide preparation due to the abnormally fragile lymphocytes seen in CLL

Question 360

What is the threshold value of a lymphocytosis needed for a diagnosis of chronic lymphocytic leukaemia (CLL)?

Answer 360

Lymphocytes > 5 x 10⁹ L^-1

Question 361

What is the most common presentation associated with a diagnosis of chronic lymphocytic leukaemia (CLL)?

Answer 361

Incidental finding in a completely asymptomatic patient

Question 362

What complication is commonly associated with chronic lymphocytic leukaemia (CLL)?

Answer 362

Autoimmune haemolytic anaemia; due to lymphocyte production of antibodies against red blood cells 

Question 363

Which staging system is used to stratify patients with chronic lymphocytic leukaemia (CLL)?

Answer 363

Binet Staging 
- Binet A; < 3 lymphoid sites
- Binet B; ≥ 3 lymphoid sites
- Binet C; anaemia and/or thrombocytopaenia

Question 364

Which biochemical abnormality is commonly associated with an atypical pneumonia caused by Legionella pneumophilia?

Answer 364

Hyponatraemia; due to associated SIADH and inappropriate secretion of antidiuretic hormone (ADH) as a result of the infection

Question 365

Why can leukaemias cause a pancytopaenia?

Answer 365

An arrest in the maturation process keeps cells in their early non-functioning stage where they begin to divide rapidly and occupy more space in the bone marrow which disturpts normal haemopoiesis

Question 366

Which kind of anaemia is associated with acute leukaemias (AML/ALL)?

Answer 366

Macrocytic anaemia due to the increased size of blast cells

Question 367

Outline the threshold values for platelet transfusion in the bleeding and non-bleeding patient? (2)

Answer 367

- Not bleeding; < 20 x 10⁹ L^-1
- Bleeding; < 50 x 10⁹ L^-1

Question 368

Outline the difference between a blast cell and a lymphocyte as seen on blood film analysis? (2)

Answer 368

Blast cells are bigger than lymphocytes and tend to have a greater nucleus-to-cytoplasm ratio than lymphocytes

Question 369

Outline the specific serious complication associated with acute leukaemias?

Answer 369

Neutropenic sepsis; this is a medical emergency requiring immediate antibiotics

Question 370

Which specific conditions can be associated with disseminated intravascular coagulation (DIC)? (5)

Answer 370

STOMP
- Sepsis
- Trauma; head injury, burns, fat emboli 
- Obstetric complications; placental abruption, pre-eclampsia
- Malignancy
- Pancreatitis 

Question 371

Outline the typical blood test result features seen in disseminated intravascular coagulation (DIC)? (6)

Answer 371

- Thrombocytopaenia (low platelets)
- Decreased fibrinogen 
- Increased prothrombin time (PT)
- Increased activated partial thromboplastin time (APTT)
- Increased D-Dimer (fibrinogen breakdown product) 
- Haemolytic anaemia; normocytic anaemia with a raised LDH and raised bilirubin

Question 372

Outline the treatment of disseminated intravascular coagulation (DIC)? (2)

Answer 372

- Blood product replacement 
- Treat the underlying cause 

Question 373

Which two specific organ dysfunctions are the most common precipitants of disseminated intravascular coagulation (DIC)? (2)

Answer 373

- Renal failure; leads to impaired platelet function | - Liver failure; leads to decreased clotting factor synthesis

Question 374

What is the definition of polycythaemia?

Answer 374

Erythrocytosis with high haematocrit plus high packed cell volume (PCV)

Question 375

Outline the clinical features of polycythaemia rubra vera (PRV)? (4)

Answer 375

PEST - Polycythaemia - Erythrocytosis - Splenomegaly - Thrombocytosis

Question 376

Which myeloid lineages are classically expanded in polycythaemia rubra vera (PRV)? (3)

Answer 376

PEN

- Platelets

- Erythrocytes (RBCs)
- Neutrophils

Question 377

What is the most common cause of polycythaemia rubra vera (PRV)?

Answer 377

V617F mutation in JAK2 which allows EPO-independent erythropoiesis 

Question 378

Outline the typical symptoms associated with polycythaemia rubra vera (PRV)? (2)

Answer 378

- Neurological symptoms; headache and blurred vision 
- Itching; due to histamine release 

Question 379

Outline the main-stay treatment used in polycythaemia rubra vera (PRV)? 

Answer 379

Venesection; blood letting to remove excess myeloid cells

Question 380

Broadly speaking, what are the two main aetiologies of a pancytopaenia? (2)

Answer 380

- Bone marrow failure | - Bone marrow infiltration

Question 381

Outline the investigations required for a patient with pancytopaenia? (6)

Answer 381

- Blood film
- Red cell indices; MCV, MCH, haematocrit
- Reticulocytes
- Viral titres; hepatitis viruses, EBV and parvovirus 
- Chromosome breakage analysis (CBA)
- Bone marrow aspirate and trephine (BMAT)

Question 382

Which specific malignant conditions can cause bone marrow infiltration and subsequently lead to pancytopaenia? (5)

Answer 382

- Leukaemia - Lymphoma - Neuroblastoma - Myelofibrosis - Myelodysplasia

Question 383

Outline the most important risks to be aware of in a patient with pancytopaenia? (2)

Answer 383

- Infection; due to suppressed white cell count
- Bleeding; due to reduced platelet count 

Question 384

What is the main risk associated with multiple platelet transfusions?

Answer 384

Alloimmunisation; development of anti-platelet antibodies that trigger transfusion reactions and diminish the increment in platelet count

Question 385

Outline the management options for patients with aplastic anaemia? (2)

Answer 385

- Bone marrow transplant; HLA-matched sibling donor 
- Immunosuppression; anti-thymocyte globulin (ATG) and ciclosporin

Question 386

Outline the differentials of a purpuric rash in child? (7)

Answer 386

- Immune (idiopathic) thrombocytopaenia purpura (ITP)
- Infection; meningococcal septicaemia
- Vasculitides; Henoch-Schönlein purpura (HSP) 
- Vomiting or coughing; in distribution of SVC
- Trauma; if localised only
- Clotting disorders; haemophilia, von Willebrand disease 
- Drugs; steroids 

Question 387

What is the most serious complication associated with immune (idiopathic) thrombocytopaenia purpura (ITP)?

Answer 387

Intracranial haemorrhage (ICH); although the incidence of this is 0.1-0.5%

Question 388

Outline the management of immune (idiopathic) thrombocytopaenia purpura (ITP)? (2)

Answer 388

- Most patients; supportive management
- Prednisolone; if mucous membrane bleeding and/or extensive cutaneous symptoms

Question 389

Which bacterial infections are patients with hyposplenism particularly susceptible to? (3)

Answer 389

Encapsulated bacteria (NHS) - Neisseria meningitidis  - Haemophilus influenzae - Streptococcus pneumoniae

Question 390

Outline the management of patients with hyposplenism? (2)

Answer 390

- One-off pneumococcal vaccination 
- Regular penicillin V (phenoxymethylpenicillin) prophylaxis 

Question 391

Outline the main complications associated with sickle cell disease? (3)

Answer 391

- Hyposplenism 
- Sickle cell crises 
- Stroke

Question 392

What is the most common cause of strokes in children?

Answer 392

Sickle cell disease

Question 393

What is the most common cause of an abdominal mass in children?

Answer 393

Constipation due to faeces; characteristically craggy, mobile and in the lower abdomen

Question 394

Which two malignancies are most commonly associated with an abdominal masses in children? (2)

Answer 394

- Wilm's tumour (nephroblastoma) | - Neuroblastoma 

Question 395

Outline the median age at presentation of a Wilm's tumour in a child?

Answer 395

Between 3 and 4 years of age; earlier if bilateral

Question 396

Which congenital syndromes are associated with an increased risk of development of a Wilms' tumour? (2)

Answer 396

- WAGR Syndrome; Wilms’ tumour, aniridia, genitourinary abnormalities and retardation  - Beckwith-Wiedemann syndrome; mutations at 11p15.5 causing a hemihypertrophy, macroglossia and visceromegaly

Question 397

What is a neuroblastoma?

Answer 397

An embryonal cancer of the peripheral sympathetic nervous system

Question 398

What are the most common locations for a neuroblastoma to develop? (2)

Answer 398

- Adrenal glands
- Retroperitoneal sympathetic ganglia

Question 399

Which biochemical tests can be used to differentiate neuroblastoma from a Wilms' tumour?

Answer 399

Neuroblastoma is associated with elevated urinary vanillylmandelic acid (VMA) and homovanillic acid (HVA) levels

Question 400

How does the prognosis of Wilms' tumours and neuroblastomas differ? (2)

Answer 400

- Wilms' tumours; have an excellent prognosis with patients with stage 1-3 tumours having an overall cure rate of 88-98%

- Neuroblastoma; often presents late with symptoms of metastatic spread, such as fever, bone pain, irritability and weight loss

Question 401

Outline the threshold needed for a diagnosis of hypetension in a child?

Answer 401

Any blood pressure ≥ 95th centile adjusted for age, sex and height

Question 402

What is the most common site of a space-occupying lesion in a the brain of a child?

Answer 402

Posterior cranial fossa; 2/3rds of brain tumours 

Question 403

Outline the symptoms of raised intracranial pressure (ICP) in a child?

Answer 403

Neck pain, rubbing of head in distress, nausea and vomiting

Question 404

Which organisms most commonly cause bacterial meningitis in adults? (3)

Answer 404

NHS
- Neisseria meningitidis
- Haemophilus influenzae 
- Streptococcus pneumoniae

Question 405

Which organisms most commonly cause bacterial meningitis in infants? (3)

Answer 405

BabyBEL
- Group B Streptococci
- Escherichia coli 
- Listeria monocytogenes 

Question 406

What type of anaemia is often found in sickle cell disease (SCD)?

Answer 406

Chronic haemolytic anaemia; microcytic anaemia with raised bilirubin due to red cell lysis

Question 407

What is the most common symptom of vaso-occlusive crises in sickle cell disease (SCD)?

Answer 407

Bone pain

Question 408

Which single long-term complication is important to consider in patients with sickle cell disease (SCD)?

Answer 408

Cerebrovascular accident (CVA); strokes are more common and may be silent in children

Question 409

Outline the pathophysiology of immune (idiopathic) thrombocytopaenia purpura (ITP)?

Answer 409

Autoantibodies against the glycoprotein IIb/IIIa or Ib-V-IX complex on the surface of the megakaryocytes in the bone marrow leads to their opsonisation and degradation resulting in decreased platelet generation and thus subsequent thrombocytopaenia

Question 410

Outline the difference in the appearance of blood films from patients acute and chronic phase leukaemia? (2)

Answer 410

- Chronic phase leukaemias exhibit the presence of all developmental stages of the affected lineage
- Acute phase leukaemias predominantly consist of blast cells of the affected lineage 

Question 411

Which conditions make up the myeloproliferative neoplasia (MPN) group? (4)

Answer 411

- Primary myelofibrosis (PMF)
- Essential thrombocytosis (ET)
- Polycythaemia rubra vera (PRV)
- Chronic myeloid leukaemia (CML) 

Question 412

What causes the BCR-ABL fusion gene seen in ≥ 95% of cases of chronic myeloid leukaemia (CML)?

Answer 412

Philadelphia chromosome; a translocation between chromosomes 9 and 22 

Question 413

Which features of a full blood count (FBC) suggest a chronic myeloid leukaemia (CML) over an infective process? (2)

Answer 413

- Persistent unexplained neutrophilia  | - Normal inflammatory markers e.g. CRP 

Question 414

Outline the potential aetiologies of enlarged lymph nodes? (2)

Answer 414

- Infection; EBV, myobacteria, toxoplasma 
- Malignancy; lymphoma, leukaemia

Question 415

What is the definition of enlarged lymph nodes? (2)

Answer 415

- Cervical/axillary lymph nodes ≥ 1cm in diameter
- Inguinal lymph nodes ≥ 1.5 cm in diameter

Question 416

How may bacterial and viral infective causes of enlarged lymph nodes be distinguished? (2)

Answer 416

- Bacterial infections; tender, warm and erythematous
- Viral infections; tender but not warm or erythematous

Question 417

How may inflammatory lymph nodes be distinguished from those occuring as a result of malignancy? (2)

Answer 417

- Inflammatory lymph nodes; painful, softer and more motile  | - Malignancy-associated lymph nodes; non-tender, firmer and non-motile 

Question 418

Which organisms are the most common cause of cervical lymphadenitis in children?

Answer 418

Gram positive cocci; most commonly Staphylococcal and Streptococcal species

Question 419

Outline the X-ray features consistent with osteosarcoma? (4)

Answer 419

- Bone destruction  - Gross swelling - Elevation of the periosteum with creation of Codman’s triangle - ‘Sunray’ spicules of new bone visible in the muscle and subcutaneous tissues

Question 420

Which organism is most commonly associated with chorioamionitis?

Answer 420

Group B Streptococcus; usually Streptococcus agalactiae

Question 421

Outline the main aetiologies that may underlie a lymphocytosis (elevated lymphocyte count)? (3)

Answer 421

- Infection; acute or chronic - Malignancy; leukaemia, lymphoma - Endocrine; thyrotoxicosis

Question 422

Which medications are classically associated with hypercalcaemia? (2)

Answer 422

- Thiazide diuretics | - Lithium 

Question 423

What is the most common cause of death in children with cancer in remission who are undergoing treatment?

Answer 423

Infection

Question 424

Which features can increase the risk of infection in patients with cancer? (5)

Answer 424

- Neutropaenia; immunosuppression due to chemotherapy 
- Mucositis; inflammation of the gastrointestinal tract as a result of chemo and radiotherapy
- Indwelling central lines; allows easy portal of entry for skin commensals 
- Frequent hospital admissions; exposure to nocosomial infections 
- Poor nutrition; resulting in secondary immunodeficiency

Question 425

Which symptoms can suggest mucositis in patients undergoing treatment for cancer?

Answer 425

Abdominal pain and diarrhoea 

Question 426

What is the most common childhood leukaemia?

Answer 426

Acute lymphoblastic leukaemia (ALL); accounts for > 80% of cases 

Question 427

What causes the hepatosplenomegaly sometimes seen in patients with haematological malignancies?

Answer 427

Extramedullary haematopoeisis occuring in the liver and spleen due to invasion/failure of the bone marrow

Question 428

Which two specific conditions are associated with endometriosis? (2)

Answer 428

- Adenomyosis; specific deposits of endometrial tissue within the myometrium of the uterus - Endometriomas; ovarian cysts frequently referred to as 'chocolate cysts' due to the appearance of the contained menstrual blood

Question 429

What is the main complication associated with a slipped upper femoral epiphysis (SUFE)?

Answer 429

Avascular necrosis of the femoral head

Question 430

Which radiological finding is consistent with a diagnosis of slipped upper femoral epiphysis (SUFE)?

Answer 430

Trethowan's Sign; the line of Klein passing above the femoral head

Question 431

Which imaging modality is used to diagnose a slipped upper femoral epiphysis (SUFE)?

Answer 431

Hip X-ray with lateral or frog leg view as well as an anteroposterior view

Question 432

Which two initial blood test abnormaities may point towards a diagnosis of hereditary haemochromatosis? (2)

Answer 432

- Derranged LFTs
- Elevated serum ferritin

Question 433

Which single test is most useful in determining if a patient is suffering from iron overload?

Answer 433

Transferrin saturation; should be < 50% in healthy adults, if increased indicates iron overload

Question 434

Which coagulation cascade pathway and clotting factors are implicated in a prolonged activated partial thromboplastin time (APTT)?

Answer 434

A prolonged APTT indicates a problem with any of the intrinsic pathway factors (VIII, IX, XI and XII)

Question 435

Which coagulation cascade pathway and clotting factors are implicated in a prolonged prothrombin time (PT)?

Answer 435

A prolonged PT indicates a problem with any of the extrinsic pathway factors (II, V, VII and X)

Question 436

How do the sites of bleeding differ between haemophilia and von Willebrand's disease?

Answer 436

- Haemophilia tends to present early in life with haemarthroses (bleeding into the joint spaces) - von Willebrand's disease tends to present later in the second to third decades of life with mucosal bleeding (epistaxis, bleeding gums ect.)

Question 437

Outline the pathophysiology of acquired haemophilia?

Answer 437

Autoantibodies against clotting factor VIII 

Question 438

Outline the main causes of acquired haemophilia? (5)

Answer 438

- Autoimmune; SLE
- Lymphoproliferative disoders
- Malignancy 
- Infection 
- Idiopathic

Question 439

Outline the management of acquired haemophilia B? (2)

Answer 439

- Coagulation cascade bypass; activated prothrombin complex concentrate or recombinant factor VIIa
- Immunosuppression; corticosteroids, cyclophosphamide, azathioprine or rituximab 

Question 440

What are the two main differentials to consider in a child with joint pain with signs of infection? (2)

Answer 440

- Septic arthritis
- Osteomyelitis

Question 441

Outline the major complication associated with delaying antibiotics in the treatment of septic arthritis/osteomyelitis in children?

Answer 441

Delay in treatment of osteomyelitis or septic arthritis can cause significant long-term effects on the growth and function of the affected limb, particularly if the growth plate is involved

Question 442

What is the most common site affected by osteomyelitis or septic arthritis?

Answer 442

Legs

Question 443

Which organism is most commonly associated with osteomyelitis or septic arthritis?

Answer 443

Staphylococcus aureus

Question 444

Outline the classification of juvenile idiopathic arthritis (JIA)? (2)

Answer 444

- Polyarticular JIA; ≥ 5 joints affected in the first 6 months of onset of symptoms
- Oligo(pauci)articular JIA; < 5 joints affected in the first 6 months of onset of symptoms

Question 445

What is the most common type of juvenile idiopathic arthritis (JIA)?

Answer 445

Oligoarticular juvenile idiopathic arthritis; polyarthropathy affecting < 5 joints

Question 446

Outline the threshold requirements for a diagnosis of juvenile idiopathic arthritis (JIA)?

Answer 446

≥ 6 continuous weeks of arthritis with exclusion of other causes

Question 447

What systemic condition is commonly associated with juvenile idiopathic arthritis (JIA)?

Answer 447

Still's disease; also known as systemic juvenile idiopathic arthritis that presents with systemic features such as salmon-pink rash associated with polyarticular joint pain and fever

Question 448

Which specific complication are patients with oligoarticular juvenile idiopathic arthritis (JIA) particularly at increased risk of?

Answer 448

Chronic anterior uveitis; requires formal ophthalmology screening and regular review

Question 449

What is the definition of a scoliosis?

Answer 449

Abnormality of spinal alignment in the coronal plane

Question 450

What test can be used to differentiate between a structural and postural scoliosis?

Answer 450

Forward-bend test; get patient to bend forward and touch their toes, postural scoliosis will disappear whereas a structural scoliosis will persist

Question 451

Outline the most common causes of cerebral palsy? (6)

Answer 451

- Pre-term birth 
- Hypoxic ischaemic encephalopathy 
- Congenital birth defects
- Kernicterus 
- Traumatic brain injury 
- Infections

Question 452

What thorough investigation is required in patients with a structural scoliosis?

Answer 452

Neurological examination; scoliosis can cause neurological deficits due to impingment of nerves and the spinal cord

Question 453

Which group of patients are at increased risk of their structural scoliosis progressing to cause early joint disease and cardiorespiratory compromise?

Answer 453

Pre-menarchal females

Question 454

Outline the typical features of oligoarticular juvenile idiopathic arthritis (JIA)? (3)

Answer 454

- Polyarthropathy affecting < 5 separate joints 

- Typically affects the knees and ankles (less often the elbows or a single finger joint)
- Occurs in young children < 6 years, particularly girls

Question 455

Which immunological test is most likely to be positive in patients with juvenile idiopathic arthritis (JIA)?

Answer 455

Anti-nuclear antibodies (ANA)

Question 456

Why are haptoglobin levels low in patients with haemolysis?

Answer 456

Haptoglobins are produced by the liver and bind free haemoglobin in the circulation that is release as a result of haemolysis

Question 457

Outline the features suggestive of microangiopathic haemolytic anaemia (MAHA)? (3)

Answer 457

- Haemolytic anaemia; normocytic anaemia with raised LDH and bilirubin - Thrombocytopaenia; confirmed via blood film analysis  - Increased red cell fragments (schistocytes)

Question 458

Outline the features of thrombotic thrombocytopaenic purpura (TTP)? (5)

Answer 458

- Purpuric rash 
- Thrombocytopaenia 
- Microangiopathic haemolytic anaemia
- Fever
- Neurological deficits

Question 459

Outline the pathophysiology of thrombotic thrombocytopaenic purpura (TTP)?

Answer 459

- Either a deficiency in the ADAMTS-13 enzyme, or widespread endothelial activation leads an inability of the enzyme to appropriately regulate the size of von Willebrand factor (vWF) polymers - This leads to the generation of prothrombotic vWF polymers that trigger widespread platelet activation and thrombi formation in various organs

Question 460

Outline the management of thrombotic thrombocytopaenic purpura (TTP)?

Answer 460

Plasma exchange; as soon as possible as TTP is a medical emergency

Question 461

What kind of anaemia is often associated with a Mycoplasma pneumoniae atypical pneumonia?

Answer 461

Autoimmune haemolytic anaemia; normocytic anaemia with raised bilirubin and LDH

Question 462

Which two conditions are commonly associated with 'B symptoms' i.e. fever, night sweats, weight loss, lethargy and lymphadenopathy? (2)

Answer 462

- Tuberculosis 
- Lymphoma

Question 463

Outline the main investigations required in suspected cases of lymphoma? (2)

Answer 463

- Lymph node biopsy; fine needle aspiration, mediastinoscopy ect.
- Bone marrow biopsy; for staging and rule out bone marrow infiltration

Question 464

Outline the top differentials of a thrombocyopaenia in pregnancy? (2)

Answer 464

- Gestational thrombocytopaenia; benign condition 
- Haemolysis, Elevated Liver enzymes, Low Platelets (HELLP) Syndrome; medical/obstetric emergency

Question 465

Outline main the blood tests that make up a haemolysis screen? (5)

Answer 465

- Lactate dehydroganse (LDH) - Reticulocyte count  - Direct antiglobulin test/direct Coomb's test (DAT/DCT) - Haptoglobins  - Bilirubin 

Question 466

Outline the threshold platelet count for platelet transfusion in pregnancy?

Answer 466

Platelet count > 80 x 10⁹ L^-1 may be sufficient for platelet transfusion, especially if epidural anaesthesia is forseen 

Question 467

Outline the investigations indicated for a neonate born with congenital bruising? (2)

Answer 467

- Anti-HPA1a and anti-HPA5b antibodies; investigating for neonatal alloimmune thrombocytopaenia (NAIT)
- Transcranial ultrasound scan; investigating for potential intracranial or intraventricular haemorrages (IVH)

Question 468

Outline the pathophysiology of neonatal alloimmune thrombocytopaenia (NAIT)? (3)

Answer 468

- Mother develops antibodies against human platelet antigens (HPA) which she does not express
- These IgG antibodies can cross the placenta and bind to HPA antigens expressed by the fetus that have been inherited from the father
- This causes opsonisation and degradation of platelets thus causing thrombocytopaenia 

Question 469

Outline the two main subtypes of autoimmune haemolytic anaemia? (2)

Answer 469

- Warm autoimmune haemolytic anaemia 
- Cold autoimmune haemolytic anaemia

Question 470

What is the most common form of autoimmune haemolytic anaemia?

Answer 470

Warm autoimmune haemolytic anaemia

Question 471

Why can patients with autoimmune haemolytic anaemia present with splenomegaly? (2)

Answer 471

- The spleen is often the predominant site of haemolysis in autoimmune haemolytic anaemia  - Macrophages in the spleen express F_c receptors which bind to the antibodies bound to the surface of the red blood cells 

Question 472

What kind of anaemia is associated with a chronic autoimmune haemolytic anaemia?

Answer 472

Macrocytic anaemia; due to the increased reticulocytes in peripheral blood which are larger than RBCs 

Question 473

Which diseases are often associated with an autoimmune haemolytic anaemia? (2)

Answer 473

- Systemic lupus erythematosus (SLE)
- Lymphoproliferative disorders (lymphoma)

Question 474

What is the most common precipitant of an autoimmune haemolytic anaemia?

Answer 474

Infection 

Question 475

Outline the aetiology of monoclonal gammopathy of undetermined significance (MGUS)?

Answer 475

Monoclonal gammopathy of undetermined significance (MGUS) occurs due to an overproliferation of a clone of mature B-lymphocytes (plasma cells) that produce an excessive amount of the kappa (κ) light chain (paraprotein) component of the IgG antibody 

Question 476

Outline the key complication associated with monoclonal gammopathy of undetermined significance (MGUS)?

Answer 476

Progression to multiple myeloma 

Question 477

Outline the key investigation findings associated with multiple myeloma? (5)

Answer 477

- Monoclonal IgG bands > 20 g L^-1; seen on serum electrophoresis 
- Pancytopaenia; due to bone marrow infiltration and suppression of haematopoeisis
- > 10% plasma cells; identified on bone marrow biopsy 
- Bence-Jones protein positive; κ or λ IgG light chains detected in the urine
- Boney lytic lesions; due to bone marrow infiltration

Question 478

Outline the blood film features associated with myelodysplasia? (3)

Answer 478

- Thrombocytopaenia  - Neutropaenia  - Abnormal neutrophils; hypogranulated, bilobed nuclei (pseudo-pelger) 

Question 479

Which specific group of patients are at increased risk of developing myelodysplasia (MDS)?

Answer 479

Patients with previous exposure to cytotoxic medications and/or radiotherapy; found in 15% of patients with MDS 

Question 480

Outline the amount of fluid used for resuscitation in paediatrics? 

Answer 480

20 mL kg^-1 of 0.9% NaCl (normal saline)

Question 481

Outline the main contraindications to lumbar puncture? (7)

Answer 481

- Papilloedema
- Pupillary dilatation 
- GCS < 13
- Hypetension with bradycardia 
- Widespeard purpuric rash 
- Thrombocytopaenia and/or clotting disorder
- Focal neurological signs

Question 482

Which investigation should be carried out immediately in all children preseting with seizures?

Answer 482

Blood glucose; hypoglycaemia is a common cause

Question 483

What is the most common precipitant of siezures in children?

Answer 483

Fever; secondary to infection can reduce the threshold for siezures in healthy children and those successfully being managed with anti-epileptics

Question 484

Which family of viruses most commonly associated with meningoencephalitis?

Answer 484

Enteroviruses; account for ≥ 80% of cases

Question 485

Which specific medications should be commenced following the taking of blood cultures in patients with meningoencephalitis? (3)

Answer 485

- Ceftriaxone; broad-spectrum antibiotic 
- Aciclovir; to cover for HSV-1 viral meningoencephalitis
- Macrolide; usually clarithromycin to cover for Mycoplasma pneumoniae

Question 486

How can electroencephalograms (EEGs) be useful in investigating meningoencephalitis? (2)

Answer 486

- Most cases; can show slow wave activity without focal features
- HSV-1 cases; focal features indicating temporal lobe involvement

Question 487

Which of the viral meningoencephalitis-causing viruses has the worst prognosis?

Answer 487

Herpex simplex virus-1 (HSV-1); severe sequelae of the infection are common and morbidity/mortality is high

Question 488

Outline the differential diagnoses of a coma in children? (6)

Answer 488

- Hypoxic ischaemic encephalopathy (HIE)
- Epileptic siezure/postictal state
- Trauma; IVH, cerebral oedema
- Infections; meningitis, encephalitis, cerebral abscess 
- Metabolic; hypoglycaemia, DKA, renal/hepatic failure 
- Poisoning 
- Vascular lesions; stroke 

Question 489

What is the most likely cause of a subdural haemorrhage in children under 1 year of age?

Answer 489

Non-accidental injury (NAI); either through shaking of the baby or a direct impact

Question 490

Which AVPU score equates to a GCS of 8 and is therefore the threshold for consideration of airway support?

Answer 490

P - patient responds to pain

Question 491

Which neurological deficit scoring system is more commonly used in paediatrics?

Answer 491

AVPU; Alert, Voice, Pain, Unresponsive

Question 492

Outline the management of raised intracranial pressure (ICP) in an infant? (3)

Answer 492

- Sit the infant at 30°
- Fluid restrict; to 2/3rds maintenance 
- Intubation and ventilation; maintain pCO₂ 4-4.5 kPa

Question 493

What is the most important differential diagnosis to exlcude in young males with a delay in gross motor skills?

Answer 493

Duchenne muscular dystrophy (DMD) 

Question 494

Which first line invesitgation can be used in patient with suspected Duchenne muscular dystrophy (DMD)?

Answer 494

Creatinine kinase (CK); extremely elevated levels are suggestive of DMD

Question 495

Outline the main aetiologies of delayed walking? (4)

Answer 495

- Generalised developmental delay; fragile X syndrome (FXS), Down syndrome - Neuromscular disease; cerebral palsy, Duchenne muscular dystrophy - Musculoskeletal; congenital dislocation of the hip, developmental dysplasia of the hip (DDH) - Idiopathic 'normal' late walker; majority of cases 

Question 496

Outline the systemic inflammatory response syndrome (SIRS) criteria that may be used to inform a diagnosis of sepsis? (4)

Answer 496

Presence of ≥2 of the following:

- Temperature: > 38.0ºC or < 36.0ºC
- Heart rate: > 90/min
- Respiratory rate: > 20/min
- White cell count: > 12 x10⁹/L or < 4 x10⁹/L

Question 497

Which genes are most commonly associated with familial hypercholesterolaemia? (3)

Answer 497

- LDL receptor (LDLR) - Apolipoprotein B (ApoB) - Proprotein convertase subtilisin/Kexin Type 9 (PCSK9)

Question 498

Which specialised blood test can be used to inform whether a patient is likely to be suffering from pre-eclampsia (PET)?

Answer 498

sFlt-1/PlGF ratio - Placental growth factor (PlGF); decreased levels in pre-eclampsia - FMS-like tyrosine kinase-1 (sFlt-1); increased levels in pre-eclampsia

Question 499

Outline the structure of a standard histopathology report? (5)

Answer 499

- Patient demographics - Clinical details - Macroscopic description - Microscopic description - Conclusion

Question 500

Outline the pathophysiology of pre-eclampsia? (2)

Answer 500

- Incomplete extra villous trophoblastic (EVT) invasion of spiral arteries leads to impaired vasodilation leads to high resistance in the spiral arteries - This in turn results in reduced uteroplacental blood flow which can predispose to intrauterine growth restriction (IUGR) and fetal demise