Paeds Flashcards

(109 cards)

1
Q

What are the 5 main areas of developmental milestones

A
  • Gross motor skills
  • Fine Motor skills
  • Social and emotional skills
  • Language and speech
  • Cognitive and Intellectual
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2
Q

Pathophyiology of asthma

A
  1. Bronchoconstriction (smooth muscle)
  2. Mucosal inflammation
  3. Mucous plugging
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3
Q

Clinical features of asthma

A
  • expiratory wheeze
  • tachypnoa
  • increased work of breathing
  • respiratory distress
  • tachycardia
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4
Q

Investigations for asthma

A
  • spirometry
    • reduced FEV1/FVC (<0.7)
    • obstructive pattern during exacerbation
  • peak flow meter
  • Methacholine challenge test
  • pulse oximetry
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5
Q

Asthma management

A

Asthma attack

  1. Administer high doses of inhaled SABA via pressurised metered dose inhaler (pMDI) with spacer or via nebuliser
    * Salbutamol 100mcg, 12 separate actuations (6 is <6yo) by inhalation via pMDI with spacer. Repeat every 20 minutes for an hour OR 2.5mg by nebuliser
  2. If not responding to salbutamol, consider ipratropium via pMDI with spacer every 20 minutes (max 3 doses in first hour)
  • <5yo à Ipratropium 21mcg x 4 actuations via pMDI or 250mcg neb
  • 6+ à Ipratropium 21 mcg x 8 actuations via pMDI or 500mcg neb
  1. Oxygen if SpO2 < 95% - nasal prongs
  2. Corticosteroid – oral preferred
  • Try avoid in <5 yo
  • 6yo+ oral à prednisolone 2mg/kg (up to 50mg)
  • 6yo+ IV à hydrocortisone 4mg/kg (up to 100mg) every 6 hours for 24 hours
  1. Add on treatments
  • IV magnesium sulfate
  • IV salbutamol
  • IV aminophylline

Maintenance

  1. Symptom relief
    * Salbutamol 100mcg, 1 to 2 actuations by inhalation via pmDI with spacer, as needed
  2. Preventive therapy
  3. First line – Inhaled Corticosteroids
  • Beclomethasone (pMDI) à 50-100mcg BD
  • Budesonide (DPI) à 100-200mcg BD
  1. Then Add Montelukast or cromone
  • 2-5yo à Montelukast 4mg orally, at night
  • 6-14 à Montelukast 5mg orally, at night
  1. Then add LABA
  • Do not add in < 5yo
  • Fixed dose comination inhaler has both ICS + LABA
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6
Q

What is bronchiolitis and common causes

A

Inflammed bronchioles because of viral infection in children < 12 months

pahtogens

  • RSV most common
  • also - parainfluenza, influenza, adenovirus
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7
Q

Bronchiolitis - features, investigations, treatment

A

features

  • Initially URTI symptoms
  • fever, cough
  • respiratory distreall
  • poor feeding
  • Ausc - wheez,e fine insp crackles bilateral

Inv - pulse ox

Tx

  • adequate hydration
  • supplement oxygen +/- ventillation
  • releif of nasal congestion - humidifier, nasal saline spray, phenylephrine
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8
Q

what is croup, its features and the main pathogen

A

Inflammation of upper airway. Narrowing of subglottic region responsible for seal bark cough and stridor.

Clinically - barking cough, stridor, hoarseness and respiratory distress

Pathogen - Most commonly parainfluenza virus

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9
Q

Treatment of croup

A

Mild

  1. Cool mist inhalation
  2. Placing infant to sleep in an upright position
  3. Breathing cool air at night
  4. Dexamethasone
  • Reduces airway swelling within 6 hours
  • Dexamethasone 0.15 mg/kg orally, as a single dose

Moderate to severe

  1. Hospitalized – if presence of stridor at rest à ICU
  2. Inhaled nebulised adrenalin
  • Reduces airway swelling, faster onset than dexamethasone
  • Adrenaline 0.1% solution 5mL by inhalation via nebuliser Plus dexamethasone
  1. Humidified air or oxygen if necessary
  2. IV fluids to prevent hydration

Intubation is indicated when the airway compromise is imminent

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10
Q

common causes of pneumonia in children (<1m, > 1 m) and their treatment

A

Neonates

  • GBS
  • E.coli, chlamydia

Treat with Gentamycin and amoxycillin

Infants

  • Strept Pneumonia
  • Viral

School aged

  • Viral
  • S. Pneumoniae

Treat with amoxycillin if mold

for more sever - vancomycin + ceftriaxone + azithromycin (atypical)

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11
Q

cause of tonsillitis and pharyngitis

A
  • Viral (75%) - rhinovirus, coronavirus, adenovirus, EBV
  • GAS (S. pyogenes)
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12
Q

investigations and treatment for pharyngitis/ tonsillitis

A

Inv

  • throat exam
  • Rapid strept sntigen detection test
  • throat culture

tx

  • usually symptomatic
    • salt-water gurgle
    • analgesia
    • hydration
  • ABs - Penicillin V
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13
Q

complications of GAS pharyngitis

A

supporative

  • otitis media
  • tonsillopharyngeal cellulitis or abscess
  • sinusitis
  • necrotising fasciitis

non-supporative

  • rheumatic fever
  • scarlett fever
  • post-strep glomerulonephritis
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14
Q

epiglottitis cause, why its less common now, clinical features, treatment

A

Caused by Haemophilus influenzae (HiB) which is now vaccinated against at 2 months

Present with difficulty breathing, drooling and appear sick

Tx - by keeping calm, intubation by experienced person, IV ceftriaxone

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15
Q

Pertussis cause, symptoms, investigations, prevention, treatment

A

Caused by bordatella pertussis

Clinically

  • Catarrhal stage - URTI symptoms 1-6 weeks
  • Paroxysmal stage - paroxysmal cough for 1-10 weeks
  • Convalescent stage - recovery in 2-3 weeks

Investigations

  • NPA - pertussis PCR
  • WCC
  • serology

Prevention

  • Vaccination
    • 2,4,6 months and 10-15y
    • 3rd trimester pregnancy
    • booster for contacts

Treatment

  • Azithromycin - reduced infectivity not duration of symptoms
  • isolation
  • vaccinate at high risk contacts
    • female in last month of pregnancy
    • close household contacts of any child < 24 months how has not had 3 doses of pertussis
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16
Q

what is type 1 and type 2 resp failure and what causes each

A

Type 1 - hypoxaemia

  • most acute resp conditions
  • APO, pneumonia, pulmonary haemorrhage

Type 2 - Hypoxaemia and hypercapnia

  • Drug OD
  • NM disease
  • chest wall abnormalities
  • Asthma
  • COPD
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17
Q

cause of transudate and exudate pleural effusion

A

transudate

  • increased hydrostatic pressure
    • Heart failure
  • decreased oncotic pressure
    • cirrhosis - less albumin
    • nephrotic syndrome - protein in urine

exudate

  • inflammation of pulmonary capillaries, leaky capillaries
    • malignancy
    • infection
    • trauma
    • inflammatory conditions
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18
Q

lights criteria

A

exudate if at least 1 of:

  • Fluid protein: serum protein > 0.5
  • Fluid LDH: serum LDH > 0.6
  • Fluid LDS > 2/3 normall upper limit of serum LDH
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19
Q

treatment of pleural effusion

A
  1. Treat underlying condition e.g. loop diuretic for acute LHF or antibiotics for pneumonia or empyema drainage
  2. Symptomatic Tx
  3. Tube thoracostomy – for recurrent pleural effusions
  4. Video-assisted thoracoscopic surgery

Pleurodesis – for malignant effusions or ones that don’t respond to drugs

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20
Q

What is anaphylaxis and its symptoms

A

Life-threatening reaction in pre-sensitised individuals caused by immune mediators

Symptoms

  • Resp - angioedema, wheeze/stridor, tingling in mouth, hoarseness
  • Cardio - hypotension, LOC, dizziness, pallor, floppy
  • Abdominal - pain, diarrhoea, N+V
  • Skin - urticaria, erythema, angioedema
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21
Q

Investigations fror anaphylaxis

A

Skin prick test

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22
Q

Management of anaphylaxis

A
  • Adrenaline - IM 1-mcg/kg, repeat in 3-5 mins if no improvement
  • 0.9% saline 20mL/kg for shock

If no resolution

  • persistent upper airway obstruction
    • nebulised adrenaline
    • consider IV adrenaline
  • persistent lower airway obstruction
    • neb adren or salbutamol

Ongoing

  • education
  • confirm trigger
  • avoid allergen
  • medical aalert bracelet
  • epipen
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23
Q

Pyloric Stenosis

  • what is it
  • epidemiology
  • symptoms and exam findings
  • investigations
  • treatment
A
  • Hypertrophy of pyloric sphincter leading to narrowing of pyloric canal
  • most common cause of gastric outlet obstruction in 2-12 weeks old
  • Presents as non-billious vomit after feeds, poor weight gain, constipation
  • Palpation of upper abdominal motile, firm mass inferior to liver edge
  • investigations - U/S (diagnostic), UEC
  • Tx - Fluid resusc, electrolyte replacement, pylotomyomotomy
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24
Q

Infantile colic

  • What is it
  • Causes
  • Symptoms
  • Investigation
  • Treatment
A
  • Paroxysmal uncontrollable crying in an otherwise healthy, well fed baby aged < 5 months
  • Causes
    • Food allergies, cows milk, maternal ingestion of chocolate, citrus when breasfeeding
    • Parental smoking, no breastfeeding
    • Flatulence
  • Symptoms - crying lasting >3hrs, >3 days per week, > 3 weeks
  • Inv - history, weight, height, head circ
  • Ddx - otitis media, GORD, Intussusception, Pyloric stenosis, UTI
  • Tx - reassurance
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25
Coeliac * what is it * symptoms * investigations * treatment
* T-cell mediated autoimmune disease due to chronic immune reaction to gluten * Risk factor - DQ2 or DQ8 HLA alleles, family Hx * Symptoms - diarrhoea, malabsorption, weight loss, failure to thrive, steattorhoea, abdominal pain, iron deficiency anaemia, bloating * Inv - Tiddue Transglutimase, Gluten challenge, Endoscopic findings in small bowel - villous blunting, elongated crypts, lymphocytes and inflammation * Note: people on a gluten free diet prior to evaluation cannot be differentiated. must be placed back on a diet involving gluten with serological/histological tests assessed after 2-8 weeks * Treatment - gluten free diet
26
Paediactric Bowel obstruction causes
SBO * Duodenal stenosis * Malrotation * Meconium ileus - usually in CF * Meconium plug * annular pancreas LBO * Hirschprung disease * rectal atresia Both * Intussusception * Post-op adhesions * abdominal hernia
27
Symptoms and signs of bowel obstruction in a neonate
* billious vomit (unless obstruction aboce ampulla of vater) * delayed/ absent passage of meconium, constipation or diarrhoea * abdominal distention * abdominal pain - lethargy, anorexia examination findings * abdominal tenderness * dehydration * bowel sounds * mechanical - high pitched * ileus - absent
28
Intussusception * what is it * ca
* occurs when a section of bowel invaginates into the lumen of the immediately distal bowel resulting in infarction and gangrene of the inner bowel segment * Infants 3-12 months * Symptoms - colicky abdominal pain, flexing of the legs, vomiting, fever, lethargy, blood in stool, red currant jelly stool (late sign) * Signs - RUQ mass, abdo distention, peritonism if ruptures, dehydration * Investigations - abdo U/S best initial test (target sign or doughnut sign), contrast enema (best confirmatory test), can do abdo X-ray to assess for obstruction, perforation. FBC - assess for leukocytosis (peritonism) * Tx - fluid resuscitation, analgesia, NBM, nasogastric decompression * Non-surgical - air enema reduction (unless signs of peritonism or unstable) * Surgical - reduction (shock, failed conservative, peritonism or unstable)
29
Appendicitis * symptoms and signs * investigations * treatment
* Inflammation of the veriform appendix usually due to appendiceal luminal obstruction * Symptoms * epigastric pain, intermittent dull pain --\> RLQ, sharp increasing severity and constant * N + V, anorexia * Exam - peritonism, guarding, rigidity, rebound tenderness, diminished bowel sounds on right * causes - obstruction of appendiceal lumen by faeces, infection, lymphoid hyperplasia, neoplasm * investigations - U/S, CT, FBC, CRP, Urinalysis, Pregnancy test * Treatment - NPO, analgesia, fluid resusc, IV ABs (cefazolin + metronidazole), laparoscopic appendectomy
30
Peritonism - signs, symptoms and causes
* inflammation of the peritoneum * Symptoms * abdominal pain worse by moving and coughing * rigidity - involuntary contraction of abdo muscles * guarding * rebound tenderness * percussion tenderness * Causes * PID * gastric perforation - ulcer, appendicitis, diverticulitis, cholecystitic * abdominal trauma
31
Inguinal hernia - indirect vs direct
Indirect hernia * most common groin hernia * passes throughdeep inguinal ring, follows spermatic cord and may protrude into superficial ring * lateral to inferior epigastric artery Direct hernia * Enters through the fascia transversalis on the posterior wall of inguinal canal in the area known as the Hasselbachs triangle * Medial - rectus abdominus, Lateral - epigastric artery, Inferior - Inguinal ligament * due to weak abdominal wall muscle * more common in elderly * medial to inferior epigastric artery
32
reducible, irriducible, obstructed and strangulater hernia meanings
reducible - hernia can be pushed back with manual pressure irreducible - cannot be pushed back * obstructed - lumen of hernia is obstructed * strangulated - blood uspply to hernia is cut off - ischaemia3
33
Neonatal jaundice causes
concerning features of neonatal jaundice - appearing before 24 hours of life, or beyond 2 weeks, conjugated jaundice Unconjugated * Haemolytic * Intrinsic - * membrane conditions - spherocytosis, eliptocytosis * enzyme conditions - G6PD * Globin defect - thalassemia, sickle cell * Extrinsic * sepsis, AV malformation, infections- hepatitis, CMV, rubella * Autoimmunity - rhesus disease, other maternal-fetal blood group incompatibility * Non-haemolytic * breastmilk jaundice * gilberts syndrome Conjugated * Hepatic * Post hepatic * biliary atresia * bile duct obstruction
34
complications, investigations and treatment for neonatal jaundice
complications * acute bilirubin encephalopathy - hypotonia, poor feeding, high pitched cry * chronic bilirubin encephalopathy (kernicterus) - developmental delay, seizures, sensori-neural deafness, oculomotor dysfunction, cognitive impairment Investigations * if rhesus -ve mother * Serum bilirubin level - repeat after 4-6 houra * FBC * DAT (direct antibody test - coombs) Treatment * Phototherapy - for unconjugated bilirubin to prevent acute bilirubin encephalopathy and kernicterus * If rhesus isoimmunisation --\> IVIG and exchange transfusion
35
Acute infectious gastroenteritis - causes, treatment
* Diarrhoea, V+V, fever, generally unwell, crampy abdominal pain, dehydration * causes * viral - norovirus, rotovirus * parasitic - emramoeba histolytica, giardia lamblia * bacterial - e.coli, salmonella, shigella, campylobacter jejuni * diagnosis - clinical, can do stool culture * treatment - Fluid and electrolyte replacement, if bacterial can give antibiotics, but usually viral so dont
36
Oesophageal atresia, tracheo-oesophaeal fistula * types * symptoms * investigation * treatment
Oesophageal atresia - congenital condition in which the oesophagus is not fully developed ending in a blinding pouch rather than stomach Tracheo-oesophageal fistula - congenital condition between the oesophagus and trachea Types 1. Type A - pure oeophageal atresia 2. Type B - proximal fistula with atresia 3. Type c - proximal atresia with distal fistula 4. Type D - proximal and distal fistula 5. Type H - fistula without atresia Symptoms * Prenatal - oligohydramnios * Post natal - feeding difficulties, respiratory distress, choking, recurrent RTIs Diagnosis * inability to pass NG tube * barium swallow for H type Treatment * surgical repair *
37
Hirschprung's disease
* birth defect in which nerve are absent in part og the intestine resultingi n functional obstruction (absence of ganglion cells) * Types - typically recto-sigmoid (75%), long segment (25%) * Risk factors - down's syndrome, genetic, male * symptoms - vomiting, abdo distention, delayed passage of meconium, enterocolitis, failure to thrive * investigations - contrast enema, AXR, rectal biopsy (diagnostic) * Tx - NGT, IV fluids, ABs prior to surgery, surgery
38
What is lower UTI, Cystitis and Pyelonephritis
Lower UTI = infection of the bladder and the lower urinary tract Cystitis = infection of the bladder Pyelonephritis = infection of the parenchema and collecting system of the kidney
39
Urine dipstick findings in UTI
Positive nitrate and leukocyte esterase indicates high likelihood of uti * Cloudy - pyuria * Haematuria + * Leucocytes +++ * Proteinuria + * Nitrites (Nitrates convertet to nitrites with come bacteria (E.coli) * Alkaline (urea splitting organisms)
40
Treatment of UTIs for children (\<3 months and \> 3 months) and what investigation would you book for recurrent UTIs
* \< 3 months --\> IV amoxicillin and gentamycin * \> 3 months * well --\> Augmentin Duo * unwell --\> IV amoxicillin and gentamycin If recurrent UTIs - book a renal U/S
41
What is vesico-ureteric reflux?
retrograde passage of urine from the bladder to the upper urinary tract Primary = incompetent closure of the uretovesical junction Secondary = results from abnormal high voiding pressure in the bladder that leads to failure of the uterovesical junction
42
Grades of ureto-vesicular reflux
1. Grade 1 = reflux only fills the ureter without dilation 2. Grade 2 =reflux fills the ureter and collecting system without dilation 3. Grade 3 =reflux fills and midly dilates the ureter and collecting system 4. Grade 4 = reflux fills and grossly dilates the ureter and collecting system with blunting of the calices (some totuosity of the ureter is also present) 5. Grade 5 = massive reflux grossly dilates the collecting system. all the calices are blunted with a loss of papillary impression and intrarenal reflux may be present
43
symptoms, investigations and treatment of vesico-ureteric reflux
symptoms = recurrent UTIs Investigations = abdominal U/S (ureteral dilation or hydronephrosis), cystography treatment * Grade I-II = surveillance, antibiotic prophylaxis to prevent UTIs, surgical correction if it doesnt correct by itself * grade III-V antibiotic prophylaxis and surgical correction
44
Testicular torsion definition, symptoms, examination, diagnostics, treatment, rate of success
Definition: Twisting of the spermatic cord resulting in cutting off the testicular blood supply resulting in ischaemia and gangrene if not resolves. most common in adolescents and neonatal period Symptom: Rapid onset of severe testicular pain, N+V, swelling Examination: Swollen, tender, high riding, abnormal trasverse lie, absent cremaster reflex, Prehn's sign negative \*listing of the testis will not releive pain\* Diagnosis: Clinical - refer straight ot surgeons Treatment: Surgical emergency Complications: 6 hours - 90% saved, 12 hours 50% save, 24 hours 10% saved, \> 24 hours 0%
45
Symptoms, causes and treatment of epididymo-orchitis
Symptom: * Orchitis = gradual onset testicular pain, testicular swelling and inflammation, haematuria, haematospermia * Epididymitis = gradual onset scrotal pain, swelling, dysuria, urethral discharge causes = chlamydia or gonorrhoea, UTI Treatment = antibiotics
46
Cryptochidism definition, risk factors, treatment
When one or both testes are not present within the dependent portion of the scrotal sac. (Ascended testes: testes that were previously noted to be in the normal position but later ascended into the high portion of the scrotum or inguinal canal) risk factors: family history, prematurity, low birth weight treatment - surgery at 12-18 months to place testes into the dependant scrotum then requires annual follow up to determine location, viability and ize complications - lack of intervention associated with increased with of testicular cancer and infertility
47
Torsion of the testicular appendage
A hydatid of Morgagni is an embryological remnant found in the upper pole of the testis. torsion of this appendage can occur characteristically in boys just prior to puberty Symptoms: testicular pain, swelling Examination: blue dot may be seen or felt in the testis, reactive hyrocele in 20%, cremaster reflex intact Diagnosis: surgical exploration Treatment: surgical interention to exclude testicular torsion, conservative management otherwise - pain usually resolvesi n a week
48
varicocele definition, examination, treatment
Abnormal dilation of the pampiniform plexus and the internal spermatic vein (90% left sided) Examination: bag of worms appearance, not transilluminable, do valsalver manouvre to check grade, check to see that it drains Treatment: usually no treatment, can do surgical repair, also semen analysis if concerned about fertility
49
Post infecitous glomerulonephritis definition, investigaiton, treatment
Definition: * Usually occurs in children **6/52 post impetigo or 1-2/52 post throat infection** * **Post infection by group A beta-haemolytic strept (GAS)** * **immune complex deposition in glomerulus** Symptoms - haematuria, proteinuria, oliguria Investigations * Anti-streptolysin O test to prove strep infection Treatment: usually supportive, 90% of kids okay, 1/4 adults develop rapidly progressive glomerulonephritis
50
Hydrocele definition, examination and treatment
collection of fluid between the layers of the tunica vaginalis surrounding the testis or along the spermatic cord Symptoms and examination: Scrotal mass, non tender, transillumination, enlarged with increased intraabdominal pressure treatment * \< 2 = observation * \> 2 = surgical repair - ligation of the sac at the inguinal ring
51
Epidydimal cyst (spermatocele) * examination and treatment
painless fluid filled cyst that occurs in the epididymis, fluid contain spermatozoa Examination - smooth firm lump at top of testis, non tender, transilluminable can request U/S rule out testicular cancer Treatment - nil if small, spermatocelectomy if large
52
* hydrocele * varicocele * spermatocele * torsion * inguinal hernia * epididymitis
53
Haemolytic Uraemic Syndrome
Characterised by: 1. Microangiopahtic haemolytic anaemia 2. Thrombocytopenia 3. Acute Kidney Injury Causes * Infection producing the Shiga-like toxin * enterohaemorrhagic E.coli * Shigella dysenteriae * also strept pneumoniae Symptoms * diarrhoea, preceding pneumonia, bloody diarrhoea, oliguira, haematuria * haemolytic anaemia, thrombocytopenia, AKI Investigations * FBC - decreased RBC, thrombocytopenia * Blood smeear - shistocytes (fragmented RBC indicating thrombotic microangiopathy) * Renal function - raised creatinine * Urinalysis - proteinuria, haematuria * stool culture * coagulation profile Treatment * fluid resus * red cell transfusion if severe
54
Status epilepticus definition and treatment
tonic clonic seizure lasting \> 30 minutes or repeated tonic clonic consultation over a 30 minute period with no period of recovery of consciousness between Treatment for seizure Midazolam buccal, IM, IV... Status epilepticus IV, if not IV then try IM then IO Midazolam or diazepam, repeat dose after minutes
55
Febrile convulsion - do they require investigaitons or treatment?
benign convulsion in a child between the age of 6 months and 6 years in the setting of acute febrile illness without previous afebrile seizure. Investigations not usually required Treatment: reassurance, anti-convulsant if prolonged. Paracetamol has not been shown to reduce risk of further convulsions.
56
Meningitis -cause, symptoms, exam, diagnosis, treatment
Causes bacterial * \< 3 months - GBS, strep pneumoniae, neisseria meningitidis * Paediatric = Neisseria meningitidis, streptococcus pneumoniae, HiB * Adult = S. pneumoniae, N meningitidis, HiB viral * enteroviruses,HSV * Parasitic - cryptococcal neoformans, schistosoma symptoms * triad - fever, nick stiffness, headache * Children - irritable, feeding difficulty, rash, N+V, photophobia Examination * rash - petechial or purpura non-blanching (meningococcal meningitis) * nuchal rigidity - passively flex neck * brudzinski sign - spontaneous flexion of hipduring attempt to passively flex neck * kernig sign - inability to allow full extension of knee when hip is flexed at 90 Diagnosis - Lumbar puncture (before ABs) ---\> CSF microscopy, culture, protein, glucose, lactate, NAAT * bacterial - raised neutrophils, lowered/ normal glucose * viral - low neutrophils, lymphocytes high or normal, normal glucose Treatment 1. IV dexamethasone 2. Antibiotics Empirical * \< 1 month - cefotaxime + benzylpenicillin + acyclovir * \> 1 month - ceftriaxone + vancomycin Focused * benzylpenicillin - Neisseria meningitidis * Vanc and cefotaxime for penicillin resistant S. pneumoniae
57
cerebral palsy definition. causes, classification, symptoms, treatment
Umbrella term that refers to a group of disorders that affect movement, tone and posture due to damage to the developing brain during the antenatal or early post-natal period when neuronal connections are still forming Causes * antenatal (75%)- prem, maternal thyroid disease, TORCH infection, teratogen * Perinatal - birth asphyxia (10%), placental abruption, prolonged labour * Postnatal - sepsis, hyperbilirubinaemia, respiratory distress, meningitis, head injury Classificaiton 1. spastic (motor cortex, loss of inhib GABA) - stiff muscles, hyperreflexia, hypertonia 2. dyskinesia (basal ganglia) - involuntary stereotyped movements with varying muscle tone 3. ataxia (cerebellar) - loss of motor coordination 4. mixed Symptoms - muscle symptoms, pain from tight muscles, abnormal posture, learning difficulties, speech difficulties, vision problems Treatment - rehab, physio, OT, speech therapist, adaptive equiptment
58
Spina bifida definition, risk factors, symptoms, diagnosis, treatment, prevention
Failure of the neural tube to close posteriorly resulting in incomplete closure of the spine and membranes around the spinal cord. Exposure to the amniotic fluid causes irreversible damage to the spinal cord. Can affect th brain or SC at any level but most commonly affects the lumbosacral region. Note: neural tube defect during the first 4 weeks of embryogenesis. Risk factors: Folate (Vit. B9) deficiency, medications that interfere with folate metabolism (anti-convulsants) Symptoms - hair, dimple, birth mark above site lesion, loss of sensation, paralysis, bladder and bowel dysfuntion, leg/foot deformities Diagnosis: Antenatal screening - U/S, triple screen (alpha-fetal protein, hCG and uE3) Treatment = neurosurgery to repair defect Prevention - folic acid supplementation (elevit), (folate added to flower)
59
Hyrdocephalus Definition, types, causes
Excessive amount of CSF accumulating within the cerebral ventricles and/ or subarachnoid space resulting in ventricular dilation and increased ICP (imbalance between CSF produced by choroid plexus and reabsorbtion) Note: Choroid plexus produces CSF --\> ventricles --\> ubarachnoid space --\> arachnoid villi --\> systemic circulation Types 1. Non-communicating - blockage in the ventricular system --\> inadequate drainage 2. Communicating - impared absorption in the subarachnoid space or rarely due to increased production 3. Normal pressure hydrocephalus - cerebral ventricles are pathalogically enlarged but ICP not elevated (seen in elderly) 4. Ventriculomegaly - enlargement of the ventricles seen on neuroimaging 5. Hydrocephalus Ex-vacuo - enlargment of the CSF spaces caused by reduced brain volume due to atrophy 6. Benign external hydrocephaus - benign enlargment of the subarachnoid space Causes * Congenital CNS malformation * Teratogens * Neural tube defect * intra uterine infection - rubella, CMV, syphilis, siza * choroid plexus papilloma or carcinoma * Intraventriculr haemorrhage * CNS infection - meningitis, mumps, encephalitis
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T1DM * What is the pathophysiology of decreased insulin * symptoms * investigations * treatment * complications
Autoimmune disease characterised by the destruction of B cells and an absolute deficiency of insulin. Pathophys: Decreased Insulin leads to: * Hyperglycaemia as glucose cant get into the tissues * Glyconeogenesis in the liver as glucagon is uninhibited * ketogenesis from AA breakdon * Increased lipolysis and FFA in blood * Glycosuria and polyuria Symptoms * polyuria, polydipsia * unexplained weight loss * abdominal pain * blurred vision * Nausea Diagnosis High BSL * Fasting BSL \> 7mmol/L * Glucose Tolerance test: 1hr \>7, 2hrs \> 11.1 * HbA1c \> 6.5% Autoantibodies (to distinguish between T2DM) * Anti-GAD antibodies * Anti-tyrosine-phosphate related islet antigen * Islet cell surface antibody C peptide * Increased C peptide --\> may indicate insulin resistance --\> T2DM * Decreased C peptide --\> absolute deficiency --\> T1DM Urinalysis * glycosuria, microalbuminuria (early signs of diabetic nephropathy), ketones (Up in DKA) Treatment * Gylcaemic control - BSL monitoring * Insulin (basal-bolus or pump) * Diet and exercise Complications * Hypoglycaemia * hyperglycaemia, DKA * Microvascular (retinopathy, nephropathy, neuropathy) * Macrovascular (Stroke, AMI) * Infections
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DKA symptoms. examination,cause, investigation, treatment
Hyperglycaemia + Ketosis + acidosis Symptoms - fatigue, N+V, polyuria, polydipsia, polyphagia, dehydration, abdominal pain, acetone breath, decreased consciousness, coma examinaiton - dry MM, decreased skin turgor, tachycardia, raised RR, hypotension, abdominal tenderness, metabolic acidosis Causes * not taking insulin, inadequate dosage * infection, drinking alcohol Invesitgations * BSL - hyperglycaemia * Ketones - blood and urine * ABG - metabolic acidosis - Decreased pH,pCO2, Bicarb, Increased pO2, Anion gap, K+ can be up or down * Urine Dipstick testing * Serum electrolytes Treatment * Fluids #1 priority * Insulin * K+ if K+ deficiency * monitor electolytes * correct acid=base imbalance
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Hypoglycaemia symptoms, causes, treatment
Reduction in plasma glucose concentration to a level that can induce signs and symptoms (\<4mmol/L). Levels where the patient is symptomatic depend on the patient. Symptoms: Autonomic activation ---\> Dizziness, sweating, tremor, tahcycardia, palpitations, confusion, coma, seizures Cause: fasting, insulin OD, infection, drugs (salicylates), ETOH, endocrine causes Treament * glucose oral gel, sugar, follow up with carbohydrates * IV dextrose * IM glucagon * Insulin inhibitors (diazoxide, octreotide)
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Cystic Fibrosis definition, pathyphys, symptoms, exam, investigations, treatment
Definition and Pathophys: * Autosomal recessive, multisystem disease caused by mutation in the CFTR protein resulting alterations to chloride channels across epithelial surfaces. * Cl- cant be effectively transported across membrane * Cl- is used to draw water across diluting the secretion hence secretions become thick * deltaF508 mutation most common out of thousands Symptoms * Neonate --\> meconium ileus * Pancreatic insufficiency (thick secretions block pancreatic duct, pancreatic enzymes cant be released) * steatorrhoea, failure to thrive, malabsorption * Pancreatic damage (enzymes degrade cells of pancreatic duct over time, leading to pancreatitis) * Endocrine dysfunction * Insulin deficient diabetes * Respiratory in later childhood * thick mucus secretions in airway * impaired mucociliary action * bacterial colonisation, recurrent infections * bronchiectasis Examination * clubbing, malnutrition, nasal polyps, increased antero-posterior chest diametes, crackles upon auscultation, infertility in men - lack a vas deferens Screening * Heel prick test - serum immunoreactive trypsinogen Diagnostic * Sweat test - Cl cant be reabsorbed into sweat, extra salty (\>60mmol/L). Patient hould be \> 2 weeks * Prenatally - DNA analysis (If both parents are carriers) collected from choronic villus sampling or amniocentesis. \*Can also do a DNA assay postnatally if the sweat test is inconclusive . Monitoring * Pulmonary function tests * Annual Bronchoscopy \< 6 years (unable to cough), CT, sputum culture Treatment * Respiratory * Chest physiotherapy * Short acting bronchodilator * Mucolytics (N-acetylcysteine) * Antibiotics in exacerbation * Last resort - transplant * Hypertonic saline nebulisation * Pancreatic insufficiency * Enzyme replacement (Creon) * Fat soluble vitamin replacement (ADEK) * Diet * Additional sodium chloride intake * high energy diet to compensate for high demand * CFTR modulators - These drugs modulate the expression of the defective CFTR protein by improving the production, intracellular processing, and function of the defective protein (Ivacaftor)
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Down Syndrome definition, risk factors, clinical features, screening, associated medical conditions
Trisomy 21, most common form of genetic intellectual disibility with associated physical features and medical conditions Risk factors: increased maternal age, other children with Down syndrome, parental karyotype with translocation Clinical features * Global developmental delay * Hypotonia, Poor Moro reflex * Hyper-flexibility * extra skin on back of neck * fat facial profile * upward sloping eyes, skin fold that covers inner corner of eye * brushfield spot on eyes (white spot) * low nasal bridge with small nares * small low set ears * single palmar transvere creases * deep groove between first and second toe * protruding tongue Screening 1. combined first trimest screening (high false positive rate) - combination of US and maternal biochemistry (B-hCG, PAPP-A) 2. Non-invasive prenatal testing (detects free fetal DNA in maternal blood) Not available through medicare $400 Post natal - Karyotyping and genetic evaluation Associated medical conditions * congenital heart disease (50%) * hearing loss and visual issues * duodenal or anal atresia or stenosis * thyroid issues
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Scoliosis types, causes, treatment
Sideways curvature of the spine, usually S or C shaped Types 1. Adolescent idiopathic sclerosis (10-18yo) 2. Juvenile idiopathic scoliosis (3-10yo) 90% require surgical intervention 3. Infantile Idiopathic scoliosis (\<3yo) 90% resolve spontaneously Causes * Neuromuscular scoliosis * muscular dystrophy, spinal musculr atrophy, poliomyelitis, myonitis * Syndromic sclosiosis * Arnold-Chari malformation * Charcot-Marie-Tooth disease, cerebral palsy, CT disroders (Ehlers-Danlos, Marfancs), * Congenital scoliois Screening: Adams bend forward test Diagnostics: * X-ray Tx - refer to specialist, bracing, exercises
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muscular dystrophy 2 main types
Inherited group of progressive myopathic disorders resulting from mutations in the dystrophin gene resulting in on going degeneration and regeneration of muscle fibres and weakness as the primary symptom Types * Duchene MD * most severe * X-linked recessive trait * delayed motor milstones - wlaking \> 18 months, toe walking (heel contractures), difficulty jumping, uses arms to stand) * Gait - hyperlordosis, wide based, unstabl * symptomsusually present by age 4 * lethal * Diagnostics - serum CK elevated, genetic test * becker MD * similar presentation but later and milder clinical course * less severe, rarely fatal
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Fetal Alcohol Syndrome Disorders (FASD) types, symptoms, criteria, medical complications
A spectrum of disorders that includes multiple disorders and syndrome associated with maternal alcohol consumption Types 1. Fetal Alcohol Syndrome (most severe) 2. Partial Fetal Alcohol syndrome (dont meet full criteria of FAS) 3. Alcohol related neurodevelopmental disorder (PFAS subtype) 4. Alcoholrelated birth defect (PFAS subtype) Clinical * Height and weight \< 10th percentile * Microencephaly * Facial dysmorphology * smooth philtrum * thin upper lip flat midface * small palpebral fissure * large ears Medical conditions * congenital cardiac abnormalities * MSK - flexion contractures, scoliosis * renal - aplasia, dysplasia, hypoplasia, hydronephrosis * ocular- strabsmus, retinal vascular problems, refractive problems Criteria 1. confirmed or unconfirmed maternal alcohol exposure 2. facial features 3. growth retardation 4. CNS neudodevelopmental abnormalities
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Chromosomal abnormalities * Kleinfelder syndrome * Turner syndrome * XYY syndrome
Kleinfelder Syndrome (47, XXY or 48 XXXY) * hypogonadism, delayed puberty, tall stature, sterile Turner Syndrome (45, X0) * short stature, webbed neck, low set ears, delayed or absent puberty, sterile
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Rheumatic Fever criteria, investigations, treatment
Systemic infection that develips 2-4/12 post group A streptococcal (GAS) Beta-haemolytic streptococcal, strept pyogenes Exam: MR or MS, AR or AS, prolonged PR interval Diagnosis - JONES CRITERIA 2 major or 1 major and 2 minor plus evidence of preceding GAS infection * Major - Joint arthritis, Pancarditis, Nodules subcutaneous, Erythema marginatum, Sydenham Chorea * Major - fever, raised ESR or CRP, monoarthralia, prolonged PR interval Investigations * ECG, CXR, Echo, CPR/ ESR, Cultures, Anti-streptolysin O test (prev GAS inf.) Treatment * Penicillin (even though GAS gone) - monthly for minimum 10 years or until 21yo * Steroids life severe * NSAIDs for arthritis * Valve repaire * Notifibale disease
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Malaria what causes it?, symptoms, exam, diagnosis, treatment, prevention
Parasitic infection caused by Plasmodium. Types - P. Falciparum, P. vivax, P. Ovale Symptoms - travel, fever, headache, anorexia, N+V, diarrhoea, abdo pain Exam - hepatosplenomegaly, pallor, jaundice Diagnosis - FBC (anaemia), Blood smear thick and thin Treatment - Chloroquine Prevention * Chloroquine * Doxycycline in cloroquine resistant areas
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Varicella transmission, prevention, symptoms, treatment
Primary infection with varicella zoster virus. Can establish latency in the dorsal nerve root gangioa and reactivate as shingles. Transmission * Droplet or direct contact transmission * Incubation period 13-17 days (28 in vaccinated ppl) * Infective 2 days before rash and until vesibles have been crusted * infection rate up to 90% with household contacts Prevention * Vaccination at 18 months Symptoms * vesicular and pruritic rash * fever, anorexia nad lethargy Investigaitons - Clinical Diagnosis (PCR or skin lesion cab be used for Dx in unwell or when Dx is unclear. serology not recommended unless pregnany) Treatment * Isolate * in high risk patients - can give zoster immunoglobulin
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Measles stages of symptoms, treatment
Caused by measles virus. Vaccine available. Stages * Incubation perio 6-20 days * Prodrome (2-4 days) - fever, malaise, anorexia, conjuncitivitis, coryzal symptoms, cough, Koplik spots (white spots surrounded by erythema) * Exanthem - (2-4 days post fever) - maculopapular rash, lymphadenopathy, clinical improvment 2 days after rash Investigations * Measles autoantibodies (IgM and IgG) - pesist for month after rash, come up 1-2 post rash * PCR Treatment - isolation and supportive, notifibale disease
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Rubella clinically, and congenital rubella syndrome
Rubella virus --\> mild, self limiting illness that is often asymptomatic but can cause multiple foetal issues if acquired in pregnancy Clinically - maculopapular rash, lymphadenopathy Diagnosis - anti-rubella IgM detected at onset of clinical illnes, IgG, viral culture or NAAT Treatment - supportive, if pregnant - refer to specialist, possible immunoglobulin Congenital rubella syndrome * sensorineural deafness * eye abnormalities - retinopathy, cataracts * congenital heart disease Can result in spontaneous abortion
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Mumps what is it, symptoms , investigaitons, treatment
Viral illness causing inflammation and swelling of one or both parotids Prevention - MMR vaccine Symptoms - swelling of parotid, painful swelling, prodrome - low grade fever, malaise, headahce, myalgia, anorexia Investigations - PCR saliva, serolofy 7-17 days after symptoms onset Treamtnet - symptomatic usually self limiting in 1-2 weeks
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Roseola Infantum - what cuases, symptoms, treatment
Sixth disease - common viral infection causing temperature and rash in children Epidemiology - common between 6-24 months (95% of children seropositive by 2 years) Infection - HHV 6 or 7, respiratory tranmission Symptoms - high fever (3-5 days before rash), rash is maculopapular on trunk, neck and proximal extremities Clinical diagnosis Treatment - antipyretics, oral rehydration
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Hand foot and mouth disease cause, symptoms, treatment
Common viral infection characterised by low grade fever, oral ulcers and vesicles/ rash on the hands and feet. Caused by the coxsackie virus. Symptom * low grade fever * painful oral ulcers * small oval white blisters or vesicles on palms of hands and soles of feet * sore mouth and throat --\> leads to dehydration * red skin rash with brown scales * not itchy treatment * analgesia so they eat * rehydration * self limiting - 10-14 days
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Scabies what causes it and treatment
Causes by sarcoptes scaniei, a mite that burrows through the stratum corneum. transmitted by skin to skin contact. Causes an itch and rash - erythematout papules, linear burrows. treatment - topical permethrin or oral ivermectin
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* Acute Otitis Media * Otitis media with effusion * Chronic suppurative otitis media definitions, causes, treatment, complicaitons
Definition * acute otitis media - infection with abrupt onset that usually presents with pain * Otitis media with effusion (glue ear) - non-infective fluid accumulation in the middle ear and mastoid air cells due to negative pressure produced by the eustachian tube * chronic suppurative otitis media - middle ear infection \> 6 weeks with discharge through a perforated tympanic membrane * chronic serous otitis media - middle ear infection \> 6 weeks with no perforation Causes * strept pneumoniae (40%) * Haemophilus influenzae (30%) * Moraxella Catarrhalis (10%) Treatment * AOM - many resolve within 72 hours * analgesia - paracetamol or NSAIDs * ABs shorten duration by \< 1 day and dont decrease rate of complicaitons or reccurence * use antibiotics if symptoms persist beyon 48 hours, in high risk or more severe cases * Amoxycillin 5 days oral * Glue ear - watch and wait for 3/12, then trial 4 weeks of ABs. Grommets in the case of hearing loss or persistence * Chronic suppurative OM - topical ciprofloxacin, ear toilet (betadine or tissue spear), refer to ENT complications * perforated eardrum * mastoiditis * recurrent infection * hearing problems * febrile convulsion * VII cranial nerve palsy
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Perforated tympanic membrane causes and treatment
causes * infection * trauma * excessive water pressure (overpressure) * improper attempt to clean ears treatment * topical ABs - ciprofloxacin 2/52 * dry ear toilet with tissue spears * ear toilet using betadine solution via syringe
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Otitis externa (swimmers ear) causes, risk factors, symptoms, treatment
Inflammation of the external ear canal Causes: Pseudomonas aeruginosa, staph aureus, aspergillosis Risk factors - humid environment, external auditory obstruction, warm temp, swimming, local trauma, skin disease, diabetes Symptoms - ear pain - otalgia, ear tenderness, ear itching, hearing loss Investigations * auroscope to exclude otitis media treatment * analgesia * cleaning of ear * topical ciprofloxacin * topical hydrocortisone to control itching and inflammaiton
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Cholesteatoma what is it it? symptoms investigations and treatment
Accumulation of keratinising squamous epithelium whithin the middle ear. is a benign growth but may enlarge and involve adjacent bone. Symptoms - hearing loss, tinnitus, malodorous discharge often refractive to ABs, otalgia, vertigo Exam - discharge, crust or ketarin seen Investigations - otoscopy and CT Treatment - refer to ENT, surgical removal and adjunct antibiotics
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Impacted earwax symptoms and treatment
Cerumen impaction diagnosed when accumulation results in symptoms. Symptoms - hearing loss, fullness, otorrhoea, tinnitus Treatment - manual removal, irrigation, cerumenolytic agents
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Legg-Calve-Perths Disease what is it? epidemiology, symptoms, investigations, treatment
Avascular necrosis of the femoral head resulting from compromise of the blood supply to the area Epidemiology - usually 4-8 years, can range from 2-12 years. most common cause of limp in 4-10yo Symptoms * Limp (abductor lurch) often worse post exertion and initially painless * milkd or intermittent pain in anterior thigh may refer to knee * pain with passive movement - internal rotation and abduction * trendelenburg sing - muscle wasting * limited ROM Investigations * X-ray Treatment * Children less than 6 be conservative, consider brace * surgical - femoral osteotomy
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Developmental dysplasia of the hips risk factors, screening, symptoms, treatment
Aberrant development of the acetabulum resulting in the abrnormal development of the hip joint. Risk factors * female * breech position * Family history * less space (oligohydramnios, twins) * disease of ligamentous laxity (Ehlers Danlos) Screening * Barlows - flex femur to 90 degs then push down * Ortolani - abduct and leaver hip forward * if risk factors - U/S at 6 weeks Symptoms * instability subluxation * stiffness and limited abduction if hip out of place for extended period * dislocaiton prolonged --\> hortening of affected leg * walking - short leg gait, trendelenburg gait (limp created by weakness of abduction) * trendelenburg sign * painless limp * hyperlordotic Treatment * \< 6 months * hip dysplasia - pelvic harness to ensure optimum development * Hip discloation - pavlick harness, ridged splinting, closed reduction * 18m-6 years - open reduction and spica cast * \> 6 years - little pottential for remodelling
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Slipped capital femoral epiphysis symptoms, x-ray, treatment
Occurs when weakness in the proximal femoral growth plate allows displacement capital femoral head. Epidemiology - most common hip disorder in adolescents Symptoms * hip pain - may refer to medial knee, thigh, groin * limp * trendelenburg positive * reduced internal rotation X-ray - widened growth plate, displaced posteriorly and inferiorly Treatment - screw fixation
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Transient synovitis of the hip what is it? investigations, treatment
self limiting inflammatory disorder of the hip that commonly affects children. most common cause of acute hip pain and limp in 2-12yo. Clinical - hip resting in abduction and external rotation, decreased ROM Investigations * x-ray usually normal * US - effusion common * MRI - evaluaiton of disorder Treatment - rest and NSAIDs usually resolves within 7-10 days
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Talipes Equinovarus (Clubfoot) what is it, risk factors, treatment
Congenital defect in which the foot is fixed in adduction, Supination and varus Risk factors: Family History, male, restricted growth (oligohydramnios, malpresentation, multiple gestation) Treatment * Ponseti method - serial bracing and casting (foot progressively moved into an improved position) * Achilles tenotomy - achilles tendon may be legnthened and then braces worn untul age 4
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Septic Arthritis symptoms, pathogens, investigations and treatment
Invasion of the joint by an infectious agent resulting in joint inflammation and rapidly progressive joint destruction Symptoms - fever, acute pain, impaired ROM, erythema, warm, swollen Cause * neisseria gonorrhoea * staph aureus * S viridans, S pneumoniae Risk factors: prosthetic joint, recent joint surgery, immunosuppression, diabetes, trauma, IVDU, RA Investigation * aspiration and culture * Synovial fluid - turbid, raised WCC \< 50,000, +++ leuks, bacteria present * U/S * Raised CRP, WCC * blood culture treatment * drainage of infected fluid * emperical and targeted antibiotics - vancomycin and ceftriaxone * analgesia
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Rickets
Osteopenia - defective mineralisation of bone matrix occuring in children Rickets - defective mineralisation at the growth plates resulting in deformity of the bone structure occuring in children whos growth plates have not yet fused Causes * Vitamin D deficiency - sunlight def, dietary, exlcusively breastfed * calcium deficiency or phorphorus Symptoms * poor growth * skeletal deformities (Bowed legs, knocked knees) * Sx of nutrient deficiency * delayed closure of fontanelles * Harrisons sulcus of thorax Investigations * Serum Ca, Phosphate * Calcitriol (active form of vitamin D) * Urine calcium * Alkaline phosphate * PTH * X-ray Treatment - supplements
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Causes of a limp in child
Ortho * Legg-Calves-Perthes Disease * Transient Synovitis * Slipped Capital Femoral Epiphysis * Osgood-Schlatter disease * spondylosis * Leg legnth discrepency Infection * Septic arthritis * osteomyelitis Rheumatology * Juvenile Idiopathic arthritis Neurological * Cerebral palsy * cerebellar ataxia * spina bifida * charcot-marie tooth Muscular * trauma * muscular dystrophy * myositis Neoplasia * osteosarcoma * leukaemia Metabolic * Rickets, osteomalacia Other - poor footwear
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Wilm's tumour: Nephroblastoma, epidemiology, symptoms, investigations, treatment
Malignant renal tumour common in paediatrics * 2-5 years, most common paediatric renal tumour Symptoms * unilateral upper abdominal flank pain * unilateral upper upper abdominal/ flank mass - ballotable, smooth, firm to tough, non-tender * pallow, fatigue * haematuria * anorexia Investigation * Renal function tests * LFTs * FBC * Urinalysis * serum protein/ albumin * coagulation studies * abdominal U/S * CT abdo + pelvis Treatment - nephrectomy, chemo, radiotherapy
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Retinoblastoma what is it, epidemiology, symptoms and exam, investigations, prognosis
Malignant cancer that develops from the immature retinal cells. most common intraocular malignancy in children - most commonly \< 3yrs Symptoms * visual changes * pseudo-orbital cellulitis with periorbital oedema * strabismus (crossed or deviated eye) * ocular pain rare Clinical * Leukocoria (White papillary light reflex) * retinal detachment Investigations * Fundoscopy * Opthalmic U/S * CT+MRI staging * genetic testing - RB1 mutation \*Dont perform biopsy - risk of seeding Tx - chemo, focal laser cryotherapy Prognosis - 10yr survival 99%
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Osteosarcoma epid, symptoms, inv, tx, prog
Primary malignant tumour of bone that are characterized by the production of osteoid or immature bone by the malignant cells. Epid: Most common non-haem primary malignany in bone in paeds. 13-16yo. Distal femur most commonly affected. Symptoms * Bone pain - deep, dull and unremitting, can be worse at night and may wax and wane over time * limp * swelling * bone mass - tender to palpate * limited ROM in joint investigations * Alkaline phosphate up * LDH up * X-ray - disruption of normal trabecular bone pattern, medullary and cortical destruction, moth eaten appearance, periosteal reaction, codemans triangle * CT * PET scan * Bone scan Treatment - wide surgical resection and reconstruction Prognosis - 15% of people have malignant disease at presentation. 75% 5 year survival rate.
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Acute lymphocytic leukaemia (ALL) what is it, epid, symptoms, inv, tx, prog
A malignant clonal disease that develops when a lymphoid progenitor cell becomes genetically altered through somatic changes and undergoes uncontrolled proliferation. Leukaemia - group of cancers that begin in the bone marrow and result in high numbers of abnormal white cells. these white blood cells are not fullydeveloped and are called blast cells. Epid - most common type of leukaemia in children Symptoms * fever, fatigue, dyspnoea, dizziness, pallor * bleeding, bruising * recurrent infections * hepatosplenomegaly (blasts in spleen) * lymphadenopahy * mediastinal mass * bone pain - worse at night Positive symptoms - no WCC leads to infection, no RBCs - anaemia, No platelets - bleeding Investigations * FBC - anaemia, thrombocytopenia, WCC can be anything * peripheral blood smear - presence of blasts * coagulation profile - rule out DIC * LDH raised - high cell turnover * UEC * Serum uric acid * Diagnosis - Bone marrow biopsy - presnce of blast cells * ALL --\> \> 20% lymphoblast cells * AML --\>\> 20% myeloblast cells * CXR - exclude mediastinal mass Tx - chemo, bone marrow transplant, manage associated issues * Infection - prophylactic antbiotics and antifungals * FLuid therapy prevents uric acid formation * manage thrombocytopenia * prophylactic haematopoietic growth factos * tx febrile neutropenia * preserve fertility Prognosis - 95% remission - 80-90% cure in cildren, adults \< 30% Negative symptoms - weight loss, fever, night sweats
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Juvenile idiopathic arthritis symptoms, clinical features, investigations, treatment
Most common chronic rheumatological disease in children resulting in chronic joint inflammation Symptoms * Arthritis \> 6 weeks * Oligoarticular of monoarticular * large weight bearing joints * morning stiffness * Non-purpuric rash, macular, trunk Clinical features * Decreased ROM, synovitis, rash, muscle atrophy of extensors Investigations Clinical diagnosis * Raised ESR + CPR * RF negative * ANA may be elevated * Anti-CCP indicate poor prognosi * FBC- anaemia, thrombocytosis can be seen in systemic JIA * Arthrocentesis and synovial fluid analysis Treatment * NSAIDs * Corticosteroids intra-articular - triamcinalone * DMARDs e.g. methotrexare * Biologics - etanercept * Physiotherapy, OT Rarely use systemic steroids because of adverse effects - osteoporosis, growth restriction
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Henoch-Schonlein Purpura
Autoimmune IgA vasculitis involving the small vessels in the skin, GIT, kidneys and joints Symptoms * Palpable purpura (buttocks, legs, back) * Arthritis * Abdominal pain Erythematouc macular lesions, subcutaneous oedema, bloody stools Investigations clinical diagnosis * FBC - increased platelet count * coagulation profile normal * IgA raised * Raised creatinine * Urinalysis - Haematuria with red cell casts * raised inflammatory markers Treatment - symptomatic, NSAIDs
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Kawasakis vasculitis symptoms, complicaitons, investigations, treatment'''
Medium vessel, common less than 5 year olds Symptoms CRASH and burn * Conjunctivitis * Rash * Adenopathy * Strawberry tongue * Hand and feet swelling and peeling * Fever Complications - cardiac ischaemia and aneurysm Investigations clinical diagnosis * Raised ESR and CRP * elevated WCC with neutrophilia * normocytic normochromic anaemia * sterile pyuria Investigations * coronary angiogram * Echocardiogram Treatment * Aspirin * IV immunoglobulin - relieves acute inflammation * second line - corticosteroids, biologics Prog - spontaneously resolvesin 6-8 weeks
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Eczema risk factors, classification, investigations, tx
Inflammatory skin condition characterised by dry, pruritic skin with a chronic relapsing course Epid: can affect all ages, most common \< 5yrs Rsk: family history of atopic disease Classification * infantile - often cheeks, forehead, scalp, extensor surfacers * childhoos - involvement of flexural skin with popliteal fossa, wrists, hands feet * adult - flexural skin, upper back, arms, dorsal hands Inv - clinical Tx * emollients and moisturisers - best utilised after a shower * topical steroids * calcineurin inhibitors - tacrolimis * topical coal tar * systemic immunosuppressives e.g. cyclosporine, methotrexate
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Transient Tachypnoea of the Newborn risk factors, clinical features, investigaitons, treatment
tachypnoea resulting from delayed resorption and clearanance of fetal alveolar fluid from the lung parenchyma results in transient pulmonary oedema Risk factors: c/s, prem, diabetic mothers Clinical features - RR \> 60bpm. increased WOB, time of birth - 2hrs life, barrel chest, lungs equal to ausc Investigaitons * ABGs and VBG * CXR - increased lung volume with flattened diaphragm, mild cardiomegaly, prominenct vascular markings from himul * FBC, UEC, glucose, septic screen if needed Diagnosis of exclusion Treatment * most resolve within 12-24 hours * supportive management only - oxygen, commence feeding as soon as tolerated
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Respiratory Distress Syndrome (Hyaline Membrane Disease) cause, symptoms, inv, tx, prev
Condition of respiratory insufficiency as a result of surfactant deficiency (urfactant reduces alveolar surface tension facilitating alveolae expansion and reduced likelihood of atelactesis) Causes: Prematurity Symptoms: Tachypnoea, increased WOB, cyanosis Investigations * ABGs * CXR - diffuse ground glass apearance * UEC, glucose, cultures, CRP, FBC Treatment - surfactant therapy and CPAP Prevention * 2 doses of 11.4mg celestone 24 hours apart
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Neonatal Jaundice causes
Unconjugated (Path or phys) * Haemolytic * intrinsic * membrane conditions e.g. spherocytosis * Enzyme conditions e.g. G6PD * Thalassemia, sickle cell * Extrinsic * Sepsis * Infection - hep, CMV, rubella * Alloimunity e.g. maternal fetal blood group incompatibility * Non-haem * Breastmilk * Gilberts syndrome Conjugated (Path) * Hepatic * Post hepatic e.g. biliary atresia, bile duct obstruction
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Haemolytic disease of the newborn
Maternal IgG antibodies (Usually RhD antigen) produced by the maternal immune system pass freely through the placental circulation to the foetus and destroy fetal red blood cells (Haemolysis) resulting in anaemia and possibly hydrops fetalis. RhD neg mum to an RhD positive baby Presentation * antenatal * foetal anaemia * foetal hydrops fetalis * Postnatal * anaemia * jaundice * hepatosplenomegaly Screening - maternal blood type and antibody screen at first antenatal visit Diagnosis - after birth - Direct Coombs test Treatment * Antenatal - immunoprophylaxis - IV immunoglobulin (Anti-d administered at 28 weeks, at 34-36 weeks and within 72 hours of delivery) * Postnatal: supportive, phototherapy, exchange transfuction
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Neonatal sepsis
Causes * Early \< 72 hours --\> GBS, E.coli, Listeria * Late \> 72 hours --\> Gram +ve cocci, gram negs Symptoms: poor feeding, irritabile, lethargic, hypotonia, apnoea, resp distress Investigations: * FBC, CRP, UEC, Blood cultures * Urinalysis * ear swab * CXR if resp sx * consider LP Treatment * early onset --\> amoxycillin + gentamycin * Late onset --\> vancomycin + gentamycin
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Neonatal Hypoglycaemia causes, symptoms, inv, treatment
Ideally want \> 3.5... hypoglycaemic is \< 2.6mmol/L Risk factors * inadequate supply - prem. SGA, poor feeding * Increased utilisation - infection, perinatal hypoxia, hypothermia * Hormonal - diabetic mother, congenital adrenal hypoplasia Symptoms * hypotonia * lethargy * poor feeding * tachycardia, hypotension, sweating Prevention * early feed- within 1 hour, frequent feeds * monitor BGL * warm baby investigations if recurrent low BSL * repeat BSL * hormones - insulin, cortisol, growth factor * blood gas, lactate, ketones * urine - AA _ organic acids Treatment * encourage hourly breast feeds * input - enteral feeds, IV supps, dextrose
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Meconium aspiration risk factors, symptoms, inv, tx
Resp. ditress resulting from presence of meconium in resp. tract Risk factors * \> 42 week gestational age * maternal HTN, pre-eclampsia * smoking, substance abuse * fetal distress * oligohydramnios * chorioamnionitis Symptoms * meconium stained amnoitic fluid * resp distress Diagnosis - visual meconium, CXR - patching infiltration Tx - supportive, ABs until sepsis excluded
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Intestinal malrotation symptoms, complications, inv, treatment
Abnormal rotation of them idgut during development Symptoms: bilious vomiting, dehydration, sepsis, inconsolable, failure to thrive. food intolerance, diarrhoea Complications * volvulos - loop of intestine twists around itself and supporting mesentary leads to ischaemic and necrosis of bowel * duodenal obstruction * perforation and peritonitis Investigations * CT contrast * AXR to rule out other abnormalities * US to eclude ofther ddx like intussusception * FBC * ABG - lactic acidosis, pH down Treatment - surgical
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Necrotising Enterocolitis
Disorder resulting from ischaemic necrosis of the intestinal mucosa in neonated. Most common GI condition in premature neonates. Characterised by inflammation, ischaemia and permeability of the neonatal bowel wall to bacteria. it is potentially life threatening. Risk factors - prem, antibiotics, non-human milk Sympptoms - feeding intolerance, bilious vomit, unsettled, pale, diarrhoea, abdo distention and tenderness investigaitons * FBC - anaemia, thrombocytopenis * septic screen * blood cultures * Diagnosis --\> AXR - abnormal gas pattern, bilated bowel loops. bowel wall oedema, pneumoperitoneum Treatment Medical - supportive. ABs, discontinue feeds (Bowel rest), fluid resusc Surgical - if there is a pneumoperitoneum or perforation --\> laparotomy
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Delayed passade of meconium causes
* Hirschprungs disease * hypothyroidism * cystic fibrois * anal atresia * meconium plug
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