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1

(CHD) What are the causes of massive cardiomegaly in the newborn?

Large RA (Ebsteins, PS), AV malformations, Cardiomyopathy (infants diabetic mothers, Pompes), Pericardial effusions (Hydrops)

2

Signs of pulmonary HTN

Loud 2nd HS, narrow split 2nd HS, ejection click, gallop rhythm,

3

(ASD) What defect is associated with ASD?

Cleft mitral valve

4

Which vascular rings cause bilateral tracheal & oesophageal compression?

double aortic arch, R aoritc arch with L ligamentum

5

Which vascular ring causes indentation between the trachea and oesophagus?

Pulmonary sling / Anomalous L pulmonary arteryalso causes tracheal displacement to the left and right main bronchus compression

6

What are the findings with Ebsteins anomaly?

Cyanotic Massive heart of CXRQuadruple rhythmEarly systolic murmur of tricuspid regurgwidely split S2

7

Pulmonary vascular resistance can be calculated by?

(MAP - LA pressure) /CO

8

How do you calculate Qp/Qs ratio?

(Sats aorta - Sats SVC/RA) / (Sats LA - Sats PA)

9

how often does Tetralogy of Fallot have pulmonary atresia?

15-20% cases

10

what are the ECG findings with Ebsteins anomaly?

Right atrial enlargement, PR prolongation, Delta waves, Right bundle branch block

11

causes of dilated cardiomyopathy

Duchenne muscular dystrophyViral (adenovirus, enterovirus)Mitochondrial disordersALCAPADrugs - anthracycline, doxorubicin

12

treatment of dilated cardiomyopathy

ACE inhibitors, B blockers (both reduce mortality)digoxindiuretics

13

causes hypertrophic cardiomyopathy

Genetic (AD inheritance, mutations sarcolemma proteins - Beta myosin heavy gene)Noonans, Leopard Beckwith Weidemann and hyperinsulin (infant diabetic mother)Pompe, MPS, carnitine deficiency Friedrichs ataxia

14

what drugs MUST be avoided in hypertrophic cardiomyopathy

digoxin and diuretics strenuous exercise should also be avoided

15

what the strongest indicator of poor prognosis with hypertrophic cardiomyopathy

exercise induced hypotension

16

ECG findings hypertrophic cardiomyopathy

Q waves V1-6, inverted T waves V2-6, LVH (LVH with strain****)

17

What are the stages of Hypoplastic Left heart repair

1 - Norwood - ASD, make new aorta (PA + existing aorta) and BT shunt (lung blood flow)2 - Bidirectional Glenn - SVC + PA (done at 3-6 months once PVR dropped)3 - Fontan - IVC joined to PA plus conduit formed between SVC and RA (reduces pleural effusions post op)

18

causes of left axis deviation

AVSD / Primum ASDTricuspid atresia Noonans syndromeHypertrophic cardiomyopathy ALCAPADouble outlet Right ventricle

19

what is the most common CHD?

bicuspid aortic valve

20

what commonly occurs with double outlet right ventricle?

heterotaxysymmetrical midline liver biliary atresiasymmetrical bronchidiscordant apex and stomachECG will be Left/superior axis, no LV forces

21

what is Right atrial isomerism?

apleniaTAPVRsingle ventricle bilateral 3 lobes lungs2 SA nodesmalrotated intestines

22

what is Left atrial isomerism?

polyspleniainterrupted IVC2 ventriclesbilateral bilobed lungsabsence gallbladderectopic atrial rhythm

23

most common complication of PPHN

hearing loss

24

KEARNE SAYRE

Mitochondrial myopathy. >10yoa. EYE - Ophthalmoplegia, ptosis, loss peripheral vision, retinitis pigmentsCardiac conduction abnormalities.

25

LOWES

Oculocerebrorenal syndrome X-linked recessive disorder congenital cataracts, hypotonia and areflexia, proximal tubular acidosis

26

MOBIUS

Hypoplasia of brainstem nuclei - CN 6 and 7 paralysis Can't look side to sideCan't close eye lids (corneal erosions)Difficulty swallowing Dental abnormalities and cleft lip

27

FRIEDREICHS ATAXIA

GAA expansion (frataxin gene) 120+Ataxia NystagmusUp-going plantersIntention tremur, past pointingAreflexia Pes cavusHeart problems - cardiomyopathy Diabetic.

28

What is the marcus gunn phenomenon

shared innervation between the 5th and 3rd CN so that when you suck you blink

29

how much does folate reduce the risk of neural tube defects

85 % 5mg 35% 0.5mg

30

what are neural tube defects associated with

chiari type 2 malformations

31

what are the complications of neural tube defects

hydrcephalus, tethered cord, joint deformities (due to muscle imbalance), pressure sores, neurogenic bladder

32

what is the most common cause of death in patients with neural tube defects

renal failure

33

what is a dandy walker malformation

agencies of the cerebellum, enlarged 4th ventricle. it is associated with PHACES syndrome - post fossa abnormality - haemangioma - AVM- cardiac defects - eye abnormalities- sternal cleft

34

how does an uncal herniation present?

compression midbrain, CN3unilateral dilated pupilhemiparesis homonymous hemianopia

35

how does a central herniation present?

pupils small reactivedecorticate, de-cerebrate Chyne-Stokes respiration

36

How does cerebellar herniation through the foramen magnum present

dilated pupilsCN 6 palsyapnoea and bradycardia

37

Causes of benign intra-cranial hypertension

GH therapy, hypoparathyroidism, obesity, hypophosphataemia, Addisons, haemolysis, sinus thrombosis.

38

What are the differences between papiloedema and papillitis

Papiloedema is bilateral, no pain, colour vision normal, peripheral constriction.Papillitis is unilateral, pain on movement, poor colour vision and central scotoma.

39

what medications can be used to prevent a migraine?

beta-blockers (propranolol), calcium channel blocker (amlodipine), NSAIDS, Triptans (5HT1), TCA, Pizotifen (5HT2)

40

What medications can you use for an acute migraine?

paracetamol, NSAIDs, caffeine, triptansergotamine

41

when should you avoid using triptans and ergotamine for migraine?

in any hemiplegic or basilar artery migraine (vasoconstriction)

42

when will spinal injury give you a neurogenic bladder

above S2

43

what is brown-sequard spinal cord syndrome and when does it occur?

unilateral weakness, proprioception and vibration loss ipsilateralloss pain and temp contralateral caused by neuroblastoma, sarcoma

44

what is the most common organism in brain abscess? who is most at risk of brain abscesses?what is the management?

streptococci children congenital heart diseasecefotaxime + metronidazole +/- vanc

45

how does grey matter degeneration present?

seizures, dementia encephalopathy examples - MPS, Gaucher, Tay-sachs, Rett, Mitochondrial

46

how does white matter degeneration present?

spasticity, ataxia, optic atrophy, peripheral neuropathy example - leukodystrophy, krabbe

47

what are the sphingolipidoses?

Fabry (x-linked; alpha galactosidase)Metachromatic LeukodystrophyKrabbe disease (galactocerebrosidase)Gaucher (glucocerebrosidase)Neimann Pick (sphingomyelin)Tay sachs (hexosamidinase)

48

what flexes the DIP joints?

flexor digitorum profundus

49

what flexes the PIP joints?

flexor digitorum superficialis

50

what does damage to the radial nerve cause

wrist drop

51

what does a cerebrate posture indicate

E = extension Brainstem lesion

52

what does decorticate posture indicate

cerebrum / cervical and spinal tract lesion

53

treatment for SMA

salbutamol and sodium valproate - increase SMN 2 action

54

What is the most common mutation Charcot marie tooth?

CMT1a

55

what infection causes Guillian barre most commonly?

campylobacter

56

how many babies of mother with myasthenia graves will be affected?

10-20%

57

if a mother has already had a baby affected with myesthenia gravis what is the chance the next baby will be affected?

75%

58

what is the treatment for myasthenia gravis?

acetylcholine esterase inhibitor - pyridostigmine

59

what is the best treatment for duchenne muscular dystrophy

corticosteroids

60

what is the genetic defect in duchenne muscular dystrophy and backers muscular dystrophy

Xp21DMD = frameshift mutationBecker = in frame deletions

61

MYOTONIC DYSTROPHY

CTG triplet repeat>50 repeats = disease mutation in muscle Chloride channel, insulin receptor and cardiac trop Thypogammaglobulinaemia distal weakness > proximal weaknessalso get cataracts and cardiac conduction defects

62

what is the risk of MS if a first degree relative has it?

5%

63

what is the risk of major congenital malformations with (1) valproate and (2) other AEDs

(1) 10% and (2) 5% - greatest risk with polytherapy and high levels during first trimester.

64

Which anti-epileptic drugs are associated with depression and psychosis?

Vigabatrin and Lamotrigine

65

what is the best anti-epileptic for liver failure?

Levetiracetam

66

What anti epileptics are renally excreted?

Gabapentin, Vigabatrin, Topiramate, Levetiracetam, Zonisamide

67

How does valproate and carbamazepine interact?

Valproate increases carbamazepine's toxic metabolite epoxide

68

what anti-epileptic can cause kidney stones

topiramate

69

what anti-epileptic is used in tuberous sclerosis and how does it act

vigabatrin - acts by irreversible inhibition of GABA transaminase

70

what anti-epileptics block T-type calcium channels?

valproate, zonisamide, and ethosuximide

71

how does lamotrigine act?

blocks voltage gated calcium channels and sodium channels

72

what anti-epileptics block sodium channels?

Voltage-gated sodium channels are blocked by felbamate, valproate, topiramate, carbamazepine, oxcarbazepine, lamotrigine, phenytoin, rufinamide, lacosamide, and zonisamide

73

what is the general principles in mechanism of actions of anti-epileptic drugs?

drugs that block sodium channels works against partial seizures drugs that block calcium channels work against generalized seizures

74

how does levetiracetam work?

blocks calcium channels, excreted by kidneys and can be used with OCP

75

what is the risk of recurrence of an afebrile seizure

42% but decreases to 25% with a normal EEG

76

Feature of Lennox Gastaut syndrome

2-8 years multiple seizure types slow <2.5Hz spike and wave Treatment - ketogenic diet, Rufinamide, lamotrigine and topiramate

77

What is Dravet Syndrome?

Type of generalised epilepsy with febrile seizures. Mutation SCN1Adevelopmental arrest Treated with ketogenic diet, Rufinamide AVOID carbamazepine and lamotrigine

78

A child wakes at night and has facial twitching, throat tingling. He is distressed by this. What type of epilepsy might present like this?

Rolandic epilepsy Characterised on EEG as having centrotemporal spikesTreated with carbamazepine

79

what should you avoid in juvenile absence epilepsy?

ethosuximide and carbamazepine

80

Cells that do phagocytosis?

Neutrophils, macrophages, dendritic cells, microglia. Phagocytosis occurs with complement (C3b)

81

What makes C3 convertase?

(1) C2b + C4b (2) C3b+ Factor B, D + Properiden

82

What interleukin do Treg cells produce

IL10, TGFbeta

83

Interleukin for autoimmunity

IL-17

84

Interleukin for T cells

IL-2 - t cell clonal expansionIL-7 for differentiation from haematopeotic system

85

Interleukin for fever

IL-1

86

Cellular Immunity

intracellular pathogens (virus, parasites, IC bacteria, cancer), T cells (CD8&4), memory T cells, MHC 1 on all cells and MHC2 on APC

87

Humoral Immunity

Extra-cellular pathogens (bacteria, yeasts, toxins, allergens, mismatch blood transfusions), B cells, CD4 Tcells (Thelper), memory T cells, MHC 2 on APC

88

What is an epitope?

region of antigen that stimulates immune response

89

What is hapten?

smaller than antigen but stimulates immune response by binding to host and creating epitope. Mechanism of allergy.

90

What is the function of AIRE gene?

Acts in t cell maturation: deletes high affinity T cells and induced T reg cells.

91

What does a mutation in AIRE gene cause?

APS: no Treg cells, autoimmune T cells Mucocutaneous candida, hypoparathyroid, addisons, hypothyroid.

92

What components lead to TCR variability

VDJC recombination, good to have lots of different T cells

93

How many T cells are release from thymus

0.05

94

Types of T cells

(1) Th1 - Type 4 hypersensitivity, viral and bacterial killing, IL-12, IFNgamma(2) Th2 - Type 1 hypersensitivity, parasites and allergy, IL4, IL-13; (3) T reg cells TGF beta, Foxp3, CD25; (4) Th17 - fungal and inflammation and staphylococcus, IL-17

95

What causes a T cell independent B cell response?

polysaccharides

96

Which immunoglobulin is the largest?

IgM - pentamer, half life 5 days, strong agglutination and complement activation, reaches adult levels 1year

97

Which immunoglobulins activate complement?

IgM, IgG and IgA (plasma)

98

Primary vs secondary vaccine immune response

Primary = 5-10days, IgM>IgG, peak response smaller; Secondary = 1-3 days, IgG, 100-1000x greater than primary response.

99

Hypersensitivity Reactions

Type 1 = allergic (anaphylaxis); Type 2 = antibody, IgG (blood rxns, HUS); Type 3 = antigen-antibody complexes, IgG (SLE, GN, serum sickness); Type 4 Cell mediated (Tuberculin rxn, FPIES)

100

Risk atopy if both parents have?

50-75%

101

Atopic dermatitis how many children outgrow?

80% by 5 years

102

Hereditary Angioedema

AD, Deficiency C1 esterase inhibitor, recurrent attacks angioedema, not puritic, painful or red, no urticaria, Tests: C4 levels low & C1 esterase inhibitor and functional assay, If laryngeal give C1 INH concentrate (antihistamines, adrenalin dont work)

103

Treatment anaphylaxis

0.01ml/kg of 1:1000 (0.15mL 12yoa)

104

Indications for Skin Prick testing

When already had a food allergy, wait 6 weeks post anaphylaxis, cease TCA, loratidine, cetirizine, steroids prior. Salbutamol, decongestants, montelukast ok. >6mm = positive. Skin prick testing bad for insect due to cross reactivity with pollen.

105

Immune defects in newborns/preterms

Less IgE with prematurity, diminished classical and alternative complement formation, neutrophils have less adhesion, aggregation and deformability.

106

Investigating complement deficiency

CH50 low - classical; AP50 low - alternative; CH50 & AP50 low - combined

107

X linked hyper IgM features

sinopulmonary infections, PCPCD40L defect, NEMO defect (incontentia pigmenti), High IgM, other immunoglobulins low

108

Hyper IgE syndrome

AD, pneumatoceles, boils (“cold”), osteomyelitis coarse facial features, dentition, hyperflexible, IgE high >2000, eosinophlilia

109

Wiscott Aldrich

X-linked, WASP gene, TIME = Thrombocytopenia& small platelets, Immune deficiency (sinopulmonary infections), Malignancy, EczemaLow IgM, polysaccharide responses absent

110

Ataxia Telangiectasia

ATM gene, sinopulmonary infections, ataxia, telangiectasia, High AFP, Low IgA

111

IPEX

foxp3 mutation (T reg cells) endocrinopathies, immune dysregulation

112

CVID

Teenager, sino-pulmonary infections, diarrhoea, Low IgG, low IgA or IgMNo response immunisations

113

X-linked agammagloblinaemia

BTK gene, sino-pulmonary infections, GiardiaImmunoglobulins low, No response vaccine.die from enterovirus

114

Chronic Granulomatous Disease

X-linked most common, abscesses catalase positive organisms (staph, nocardia burkholderia, aspergillus, candida), gingivitisoxidative burst / dihydrododamine

115

LAD

Mutation CD18, delayed separation umbilical cord, neutrophilia, "cold" abscesses

116

Chediak-Higashi

oculocutaneous albuminism, neuropathy, malignancy, neutropenia, giant neutrophilic cytoplasmic inclusions

117

Schwachman Diamond

AR, neutropenia with gingivitis, pancreatic insufficiency, metaphyseal chondroplasia, dwarfism

118

chronic mucocutaneous candida

Lack Th-17defect dectin-1

119

Renal differences in the neonate (6)

(1) nephron number multiplies until 36/40 (increased risk hypertension in preterm) (2) decreased GFR in preterm (3) oliguria then polyuria (K wasting in polyuric phase)(4) ADH increases at birth and can be very high in HIE (5) renal wasting of bicarb - can be acidotic (6) renal wasting Calcium

120

what are nephropathies have low C3

5 S’s: 1. post Strep, 2. MeSangioProliferative/Membranous GN, 3. SLE, 4 Septic (SBE, HBV, HCV) 5. Shunt nephritis

121

Normal complement nephropathies

4 A’s and H: 1. Alport 2. Anti-GBM (Goodpastures) 3. IgA, 4. ANCA associated (Wegeners) & HSP

122

When will children with HSP develop nephritis by?

by 6-8 weeks but need to be monitored for 6 months

123

IgA nephropathy characteristics

Not inherited gross haematuria with illness, recurrent, flank pain, persistent microscopic haematuria benign in childhood but HTN in adult - treat with ACEi

124

Alport syndrome characteristics

hearing loss (age 10), EYE abnormalities (macular flecks) recurrent gross haematuria post viral ilness persistent microscopic haematuria, ESRD late teens

125

With nephropathies are rapidly progressive?

crescents >50% glomeruliANCA associated (pauciimmune)Anti-GBM (Goodpastures - pulm-renal syndrome)SLE (systemic symptoms)Membranoproliferative (low complement)HSP (IgA)

126

when does GFR reach adult values

age 2

127

Triad of HUS

Thrombocytopenia, Haemolytic anaemia, Acute kidney injury

128

HUS Atypical causes

Pneumococcal*Complement (C3, CD46, factor B, H inhibitors) , *ADAMTS13, Cobalamin deficiency *lead to activation of alternative complement

129

What is the most predictive risk factor for long term sequelae in HUS

duration anuria >10 days, prolonged dialysis >7 days

130

Duration follow-up of HUS? ** need to know

at least 5 years as long term sequelae can occur up to 5 years post apparent recovery

131

Complications CKD

1. Growth failure 2. Osteopenia 3. Anaemia,4. Acidosis (impairs GH release), 5. Water and electrolyte imbalance, 6. Delayed puberty, 7. Social and cognitive.

132

What are the bacteria in bacterial peritonitis in a child with PD? Antibiotics?

Treat if WBC >50 and symptomatic or WBC >100Bacteria = staph epi, staph aureus Antibiotics = Cefazolin, ceftazidime OR vancomycin & ciprofloxacin

133

Hypertension Treatment post renal transplant

Ca channel blockers (early), Diuretics (if hypervolaemic) ACEi once 2-3 months post t/p

134

Tacrolimus SE

nephrotoxicity, HTN, hepatic dysfunction, glucose intolerance, hyperkalaemia, hypomagnesaemia, alopecia

135

Tacrolimus mechanism of action

calcineurin inhibitor > inhibits nuclear activation

136

Cyclosporin SE

neprotoxicity, HTN, gigival hyperplasia, hirsutism, hyperuricaemia, hypercholestoraemia

137

Pulmonary renal syndrome causes

[Pneumonic AA STD] - Anti-GBM, ANCA, SLE, Thrombotic disease (antiphospholipid, TTP, HSP), Drugs

138

RIFLE criteria

For renal insult - Risk dysfunction (Crx1.5), Injury (Crx2), Failure (Crx3), Loss (>4weeks), ESKD (>3months)

139

RTA type 1

DISTAL, can’t excrete acid, hypercalciuria (stones), urine is alkaline (ph >5.5)loin pain Low K CAUSES: obstructive uropathy, marfan, wilsons, drugs (amphotericin)

140

RTA type 2

PROXIMAL, can’t resorb bicarb, hypercalcaemia / low calcium in urine acidic urine (pH <5.5)Low K CAUSES: cystinosis, fanconi

141

Fanconi

ALL of proximal tubule short child no growth and vomiting.Renal >GI lossesoccurs at time that transitions from breast milk to cows milk ~6 months age - hypophosphataemic ricketts- amino acid uria, glycosuria, - normal glucose in plasma

142

RTA type 4

normal urine anion gap, hyper aldosteronismHigh K, Low Na CAUSES: CAH, tacro, NSAIDS, tubular aldosterone def

143

Bartter Syndrome

Na/K/2Cl Channel defect in LOH - hypochloraemic hypokalaemic metabolic alkalosis Hypercalciruia, hyperchloride uriaProne to hypernatraemic dehydrationManage with NSAIDS > slow GFR

144

Gitelman syndrome

NaCl defect in distal tubule hyPOcalciuriapresent later in childhood with cramps - LOW Mg

145

metabolic alkalosis with volume contraction (normal/low BP)

ABCD - Anorexic (vomiting/laxatives), Bartter, CF, Diuretics.

146

metabolic alkalosis with volume expansion (high BP)

Anything that activates RAAS:- Aldosteronism, - Renal artery stenosis, - Renin producing tumour, - Adrenal carcinoma,

147

6 suppressors of renin-angiotensin

Angiotensin 2; ADH; Hypernatraemia/Hyperkalaemia; NSAIDs; Betablockers; ACEi

148

6 Actions angiotensin 2

(1) systemic vasoconstriction (2) Thirst (3) ADH release (4) Aldosterone release (5) constriction efferent >afferent arterioles (6) Proximal tubule sodium absorption

149

what undergoes sodium co-transport in the proximal tubule?

Glucose, AA, lactate, Cl, Phos

150

Radiology tests for renal function

MCU - PUV voiding dysfunctionDMSA (M=Meat) renal scarring, DTPA (T=tubules) split renal function MAG3 best for VUR

151

Diagnosis and bacteria in spontaneous peritonitis in nephrotic syndrome

strep pneumoniaDiagnosis = WCC >250, PMN>50, pH <7.35

152

What is definition of relapse of nephrotic syndrome?

2+ proteinuria for 3 days

153

Rapidly progressive GN

ANCA, Anti-GBM disease (Good pastures), Membranoproliferative GNHSPSLE

154

Features Shunt nephritis

Due to staph aureus most, SubacuteLOW complement

155

Features Post Strep GN

Group A beta haemolytic strep2 weeks post throat infection1 month weeks post skin infection, ASOT + 1 month, DNAase B + 2 months (more specific)Resolves 2-3 weeks, 95% fully recoverPenecillin prevents spread to contacts

156

Types ANCA associated nephritis

(1) granulomatosis with polyangiitis cANCA(2) churg strauss eosinophillic pANCA (3) microscopic polyangitis pANCA (4) polyarteritis nodosa (5) takagasu arteritis

157

differences between pre-renal and ATN

urine osmolality higher in pre-renal, High urine Na in ATNurine sediment is normal in pre-renal

158

fractional excretion of sodium

low is salt retaining, high if salt wasting 100 x (sodium in urine x creatinine in plasma)/(sodium plasma x creatinine urine)

159

features cystinosis

AR, cystine accumulation in lysosomeshypophosphataemic ricketsgrowth failure fanconi syndrome

160

most common renal stones are?

calcium oxalate

161

what factor is most important in managing persons with renal stones?

low salt diet - increase bone deposition and decreases calcium urine excretion

162

causes hypercalciuria and hypercalcaemia

hyperparathyroidism, vit D excess, immobilisation, hypophosphataemia, williams syndrome

163

causes hypercalciuria and normocalcaemia

idioapathic, immobilisation, medullary sponge kidney, drugs (frusemide, steroids), ketogenic diet, genetic

164

what decreases calcium in urine

potassium and citrate

165

features cystinuria

AR urine hexagonal crystals, raised COAL (cystine, ornithine,argentine,lysine) in urine, treat with fluids, low salt, penecillamine, alkalinise the urine

166

conditions with cysts seen on USS of kidneys

multicystic kidney disease (dysplastic) autosomal dominant kidney disease, renal cysts associated with diabetic syndromes (MODY 5)simple cystsTuberous sclerosis

167

features ARPCKD

PKHD1, Large kidneys hyper echoicPotter syndrome (contractures, pulmonary hypoplasia, typical facies), hepatic Caroli syndrome - intrahepatic bile duct dilatation, fibrosis

168

features nephronophthisis

Ciliopathy, tubular disordersalt wasting > polydipsia, polyuriaAnaemiaSmall smooth echogenic kidneysgrowth failure

169

features bardet biedl

obesity, developmental delayhypogonadism, polydactyly, Retinal problemsrenal nephronophthisis can't even eat, can't even see, can't even think, can't even pee

170

what immunosuppressives act in the S phase?

Prednisolone, Methotrexate, MMF, Azathioprine, cytarabine, doxorubicin, thioguanine

171

What does Sirolimus act on

mTOR, G1 phase

172

what immunosuppressives are cell cycle indepamdant

cyclophosphamide (alkylating agents)Cisplatinetoposideifosfamide

173

What monoclonal antibodies act as TNF inhibitors?

Adalimumab, Ertanecept, Infliximab

174

What monoclonal antibody acts on B cells?

Rituximab - Anti-CD20

175

Tocilizumab action

anti-IL6

176

Anakinra

Anti-IL1

177

Basilixumab

Anti-CD25 Treg cells

178

Multi-cyctic dysplastic kidney

No functionContralateral kidney hypertrophy, Low risk Wilms, Nephrectomy cures hypertension.

179

Imaging for PUJ obstruction

MAG 3 scan

180

Posterior urethral valves

poor stream, bilateral dilatationUTI male, MCUG at diagnosis then DMSA + MCU 3 months. Don't use Foley catheter!!!

181

Prune belly syndrome features

absence abdominal wall muscles, megaureter/cysts, Undescended testes infertilityalso other abnormalities

182

contraindications to circumcision

hypospadia, micropenis, dorsal hood deformity

183

How does pneumococcal cause HUS?

Produces Neuroimidase > T cell attackDirect Coombs test +Treat with Abx

184

what is the strongest markers for chronic kidney disease?

proteinuria

185

How to calculate plasma anion gap

(Na + K) - (Cl + Bicarb)>14 abnormal Normal Anion Gap AddisonsGI lossesRTA

186

Stones and chance of passage

5mm will pass5-7mm 50% pass7mm need to be removed

187

what rise in creatnine is considered acceptable in chronic renal failure treated with ACEinhibitors

20-25%

188

in obstructive uropathy what correlates with prognosis

Creatnine at 12 months

189

diamond blackfan

- defect ribosomal proteins, - Age: <1year of age, - macrocytic - Presentation: short, radial dumb defect, - Investigations: Elevated HbF, low retics, normal other cells normal- malignancy risk

190

fanconi anaemia

older child 6-9 years old, short stature, radial thumb defects, Bone marrow failure (pancytopenia), malignancy risk (Wilm’s tumours), Raised AFP, chromosome fragility studies (mitomycin C)

191

what are the 3 main proteins in plasma

albumin, fibrinogen, globulins

192

what are the 4 protein in the cytoskeleton in red blood cells

spectrin, Ankyrin, Protein 4.1, Actin

193

Structure HbF

2 alpha & 2 gamma

194

HbA2 structure and normal concentration in adults

2 alpha and 2 delta <3% in adults

195

when do babies get a nadir in haemoglobin

8-10 weeks of age

196

where is vWF produced

produced in endothelium stored in sub endothelium

197

what is vWF bound to and why

factor 8 short half life if not bound

198

by which receptor do platelets get activated in clot formation?

1b9 receptor

199

what breaks down clots

plasminogen which turns into plasmin by action of kallikrein

200

how does heparin work?

increases antithrombin and inhibits 2a and 10 a

201

what are the causes of a prolonged APTT?

- deficiency factors 8, 9,11,12, vWF disease,- heparin, - lupus anticoagulant. if doesn't correct with mixing then diagnosis is lupus anticoagulant

202

what does FFP replace

factor 2, 5, 9

203

how do you treat a child with haemophilia that has develop inhibitor

recombinant factor 7a or activated prothrombin complex

204

type of vWD

type 1 = decreased production (most common 85%, normal tests)type 2 = qualitative (decreased platelets)type 3 = absence

205

Features Bernard Soulier

defect of platelet vWF receptor Ib9, platelets fragile and LARGE, normal vWF studies

206

Features Glazmann thrombasthenia

defect platelet aggregation - affects IIb and IIIanormal tests

207

which blood group is associated with decreased vWF survival

O

208

What is increased in neonates?

vWF

209

how does factor 5 leiden cause hyper coagulable state

factor 5a resistant to protein C > accumulation 2a

210

how do you diagnose factor 5 leiden

APC resistance assay (usually it prolonged APTT and it won't)

211

what is TAR and what is it associated with

thrombocytopenia and absent radius syndrome, associated with cows milk intolerance

212

Drugs that cause thrombocytopenia

quinidine, penecillin, digoxin, anti-epileptics, heparin

213

What immune process occurs in ITP

viral illness triggers IgG against glycoproteins IIb and IIIa

214

What is TTP

similar to HUS but has predominant CNS symptomsADATS13 deficiency treated plasmaphoresis

215

inhibitors of iron absorption

tannins, fibre, phosphate, oxylate, calcium

216

in an iron LOW state what will hepcidin and ferroportin levels be

hepcidin will be low in order to increase ferroportin and increase iron absorption

217

chromosome for alpha thallassemia

chromosome 16

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what is Barts Hb what is it high in?

4 gamma chains, high in alpha thalassemia

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what chromosome abnormality is beta thallasemia

chromosome 11

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what is porphyria

defective steps in cytoplasm heme synthesis

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what is sideroblastic anaemia

defective steps in heme synthesis in mitochondria

222

what type of sideroblastic anaemia can you treat with Vit B6?

x-linked recessive

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warm haemolytic anaemia

IgG, viral cause - CMV, EBV

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cold haemolytic anaemia

IgM, mycoplasma, EBV, agglutination

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How does hydroxyurea used for sickle cell treatment work?

increases Hb F and decreases Hb S

226

what does G6PD do

reduced NADP to NADPH which decreases glutathione (antioxidant)

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agents causing haemolytic crisis in G6PD

fava beans, moth balls, henna, nitrofuratoin, antimalarials, chloramphenicol, bactrim, illness, infections

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abnormality in hereditary spherocytosis

abnormality spectrin

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What duration does your body store of Folate and Vit B12

Folate 3-4 months Vit B12 3-4 years

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How does methotrexate inhibit folate

inhibits dihydrofolate redcutase enzyme

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what is anisocytosis

variation in cell size

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what is poikilocytosis

variation in cell size

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what is the best measure for B12 levels in tissues?

urine methylmelonic acid and homocysteine levels

234

What are the encapsulated bacteria?

Pneumonic SHINS - Salmonella, Haemophilus Influenza, Neisseria, Streptococcus

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what causes a raised RDW?

iron deficiency anaemiasickle cell folate and B12 deficiency sideroblastic anaemia (lead poisoning)liver disease myelodysplastic sometimes in anaemia of chronic disease

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how will alpha trait present?

Normal older with low MCV

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what is HbH disease

alpha thalasemia lifelong anaemia with transfusionssplenomegaly

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how does Thal minor present?

mild anaemia, can have mildly raised HbA2 and HbF

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Thalassemia intermedia

moderate anaemia growth failure hepatosplenomegaly jaundice

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how does beta than major present

first 6 months of life severe haemolytic anaemia

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what are sideroblasts?

accumulation of iron in mitochondria of RBC

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what should you give in DIC

FFP

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what disorder has increased risk anaphylaxis to blood products>

IgA defiency

244

what are howell jolly bodies?

nuclear remnants

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what are heinz bodies?

denatured Hb

246

what genetic cause for HLH?

x-linked lymphoproliferative disease

247

5 Hormones increased during fasting

epinephrine/norepinephrine, glucagon, GH, cortisol, aldosterone

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4 hormones decreased during fasting

insulin, secretin, CCK, TFT

249

When does T1DM manifest?

80% loss beta cell function

250

Most common HLA type in diabetes?

HLA DR3/4 (>90%)

251

FHx inheritance of type 1 DM?

Mother/father/sibling-5%; Both parents-30%; monozygote twin-50%

252

IDDM and other autoimmune associations?

Coeliac and Thyroid (hypothyroidism) Other less common are adrenal, pernicious anaemia, MS

253

When should a bolus be given in DKA?

pH <7.1 or shock

254

When should glucose be added to IV fluids?

BSL ~15

255

HbA1C target?

58mmol/mol

256

MODY 3

Most common, HNF1-alpha leading to less B cell mass, symtommatic hyperglycaemia, 95% penetrance by 55yoa, Rx sulphonylurea, but will eventually need insulin

257

MODY 2

Problem with glucokinase, 2nd most common, Asymptomatic - slightly higher baseline, mother has it = macrocosmic baby, dad & baby have it IUGR baby

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MODY 5

associated renal cysts, ESRD 50% by 50yoa HNF1BetaReproductive issues

259

Neonatal diabetes - transient

Imprinting Chr 6 (2dad’s chromosomes, paternal duplication, hypomethylation mum): IUGR, Umbi hernia, Macroglossia, Rx insulin. Resolves 12 weeks of age

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Neonatal diabetes - permanent

PotassiumATP channel problem, in heart, muscle and brain too, Associated with DEND syndrome- developmental delay, epilepsy, neonatal diabetes, plus muscle weakness Rx sulphonylurea

261

CF and DM - (1) incidence, (2) RF, (3) screening

(1) 20% by 20yoa, (2) age, pancreatic insufficiency, homozygous deltaF508, female, (3) OGTT annually from 10yoa

262

what ketones levels are considered low and high?

<0.6 = normal3 = very large

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Management 1st presentation mildly unwell

0.25units/kg short acting SC insulin

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Insulin requirements - honeymoon, typical, puberty?

Honeymoon / diagnosis 0.4-0.6units/kg/day, Typical 0.5-1units/kg/day, Puberty 1-2units/kg/day (GH increases insulin resistance)

265

calculation for Na correction in DKA

Na + 0.3 (BSL-5.5) Pseudohyponatraemia

266

3 clinical patterns hypoglycaemia

(1) hypoglycaemia, hyperinsulinism (low BSL, high insulin, low/no ketones) - infant diabetic mother; (2) ketotic hypoglycaemia (low BSL and insulin, high ketones - GH/Cortisol deficiency, los substrate, GNG defect; (3) non-ketotic hypoglycaemia (low insulin, BSL, ketones, high FFA) - carnitine def, FFA defect.

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Stimulation GH release

stress/excitement, trauma, exercise, nutritional deficiency, sleep stages 3/4, oestrogen/testosterone

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TSH surge peak post birth?

TSH surge peak 30 min of age

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Congential hypothyroid and deafness?

Pendred syndrome - AR, dyshormogenesis Cl/Iodine transporter defect, goitre, sensorineural hearing loss.

270

If no thyroid on scintiscan?

1 - agenesis or 2 - maternal thyroid receptor blocking antibodies

271

Causes hypophosphataemic rickets

DECREASE INTAKE: osteopenia prematuirty, TPN; INCREASED LOSS: x-linked AD hypophosphataemic rickets, hypercalciuric hypophosphataemic rickets, fanconi syndrome, RTA

272

Causes calcipenic rickets

DECREASED INTAKE: prematurity, low maternal Vit D, IMPAIRED vit d METABOLISM: 1 alpha hydroylase deficiency (type1), abnormal receptor (type 2), liver disease and renal osteodystrophy

273

Vit D deficiency rickets - investigations

Low/Normal Ca, Low Phosphate, high ALP, high PTH

274

X-linked rickets gene mutation and defects

PHEX gene mutation most common (1) abnormal bone (2) renal phosphate wasting

275

Features pseudohypoparathyroidism & example

Due to tissue end organ resistance PTH - low Ca, high phosphate (PTH resistance kidney), high PTH. Albright’s hereditary osteodystrophy - mutation GNAS (obesity, DD, short, short 4th and 5th fingers, SC calcifications). Treat: calcium and Vit D

276

what is pseudo-pseudohypoparathyroidism?

paternally inherited defect of GNAS - children have phenotype but normal calcium and phosphate because maternal allele restores normal function.

277

features of an androgen secreting tumour

penile enlargement without testicular enlargement

278

Features McCune Albright

Mutation GNAS - precocious puberty, cafe-au-lit spots, fibrous dysplasia of the bone (accelerated growth and advanced bone age). Can also have other endocrinopathies - hyperthyroid, cushiness, acromegaly.

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Menstrual Cycle - events

oestrogen stimulates LH and FSH >> Oestrogen surge >> LH surge >> progesterone

280

Genes vital to gonadal development

IGFR-1, WT-1, SF-1, DAX-1

281

3 associations of loss of function WT-1 gene

(1) Frasier syndrome: XY with female phenotype and renal disease; (2) Denys-Drash Syndrome: testicular dysgenesis, virilisation, renal disease and wilms tumour; (3) WAGR: wilms tumour, aniridia, genitourinary abnormalities, retardation.

282

Drugs that inhibit TBG binding to T3/T4?

phenytoin, carbamazepine, frusemide, aspirin, heparin

283

why avoid soy and iron with thyroxine

binds to it and decreases absorption

284

Features Hashimotos

lymphocytic infiltration leading to fibrosis and atrophy, associated with turner and downs, Decreased uptake on scans, Firm, non-tender goitre, euthyroid / hypothyroid / rarely hyperthyroid

285

APS-1 features

AIRE gene, hypoparathyroidism, hypothyroidAddisons, Mucocutaneous candidiasis

286

APS-2 features

hypothyroid, addisons, T1DM

287

APS-3

thyroiditis, vitiligo

288

What is the origin of the posterior pituitary?

central hypothalamus and 3rd ventricle

289

What is the most sensitive stimulator of ADH secretion?

osmolality (with an osmolality of >290 = steep rise in ADH)

290

What increases GH?

ghrelin, stress/excitement, trauma, exercise, anorexia, sleep stage 3/4, oestrogen, testosterone

291

What stimulates and inhibits prolactin?

dopamine = INHIBITS; oestrogen = STIMULATION

292

What cells is testosterone produced and what stimulates it?

produced by Leydig cells, stimulated by LH

293

Where is most T3 produced

80% in periphery by deiodination of outer ring of T4 (enzyme thyroxine-5-iodinase)

294

what does the zona glomerulosa produce?

aldosterone

295

what does the zona fasiculata produce

cortisol

296

what does the zona reticularis produce

DHEA, testosterone, estradiol

297

what hormone does octreotide mimic

somatostatin (inhibitory hormone) - reduces GH, insulin, TSH, glucagon, CCK, secretin and gastrin.

298

why are B blocker used with precaution in diabetes

decrease gluconeogenensis and also mask adrenergic symptoms of hypoglycaemia.

299

when should you stop the water deprivation test

(1) urine osmolality >600 (normal concentrating ability) (2) plasma osmolality >300 or sodium >125 (=DI) (3) urine SG >1.02 (4) 5% loss body weight (5) reaches time limit

300

what age is peak growth is seen in girls and boys

girls peak 11-13 and boys peak 13-15

301

how to calculate mid-parental height

FEMALES: [father’s height -13 + mother height] / 2 & MALES: {fathers height + mother height +13} /2

302

what is the average increase in head circumference during 0-3 months

2cm per year

303

causes of addison?

Exogenous steroids (most common), Autoimmune (2nd most common), Adrenal hypoplasia, Adrenoleukodystrophy (x-linked), Unresponsive adrenal gland (triple a syndrome)

304

features of addison disease

hypoglycaemia, salt wasting, postural hypotension +/- hyperpigmentation (unless secondary or tertiary)

305

best test of addison

ACTH simulation test (low cortisol response in primary)

306

best test for Cushings syndrome

24 hr urinary cortisol, low dose dexamethasone suppression test (to confirm) - if suppressed ACTH adenoma

307

what is Conns syndrome and what are the features

hyperaldosteronism leading to hypernatraemia, hypokalaemia, hypertension, low renin, usually due to an adrenal adenoma, patients have headache, high BP, muscle weakness and spasm. aldosterone does not respond to fludrocotrisone and renin does not respond to salt and water deprivation

308

where are 90% of pheochromocytomas found

in adrenal medulla (chromaffin cells)

309

associated genetic conditions with pheochromocytoma

mostly AD, familial paraganglioma, MEN2, von hippel-Lindau, NF-1

310

what antihypertensive should be avoided as first line pheochromocytoma and why

b-blockers as unapposed alpha stimulation can worsen hypertension)

311

leptin - where is it produced and what does it impact.

produced by fat tissue impacts on hypothalamus affecting satiety. in lean child = low leptin = increased food intake in obese individuals ? resistance to leptin hence ongoing high food intake

312

what does AMH do

produced by sertoli cells in male and granulosa cells in female - good marker sertoli cell activity (male) and reflects remaining primordial follicular pool (females)

313

hypothyroid and increased uptake on scan?

1) dyshormogenesis (Pendred syndrome)2) excess iodine

314

Low Thyrobinding globulin

immature HPA axisTBG deficiency - nephrotic, liver problems

315

hyperthyroid causes of increased uptake on scan

Graves - low TSHadenoma ("hot nodules") - high TSH

316

how to differentiate between primary adenoma and pituitary resistance

TRH - TSH will normalise with adenoma and will increase in pituitary resistance.

317

causes of undervirilised male and which have abnormal HCG test

androgen insensitivity - normal test3bhydroxysteroid - high DHEA5alpha reductase - low DHT, abnormal HCG17b hydroxysteroid - abnormal HCG, high androstenodioneXY dysgenesis - abnormal HCGLH receptor deficiency - abnormal HCG