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Flashcards in All flash part 2 Deck (283):
1

what is the risk of Down syndrome in a 40 year old mother

1 in 85

2

how often does Robersonian translocation cause down syndrome, which is most common?

4% robertsonian translocation cause down, most common is 14;21

3

what is the rate is recurrence of robertsonian translocations

14;21 - 20% (mother), 5% (Father), 1% de novo21;21 - 100%

4

what results would you expect on antenatal screening (9-13 weeks) for a baby with Down Syndrome?

LOW AFP, LOW PAPP-A, LOW Estradiol, HIGH bHCG, HIGH inhibin A

5

how many down syndrome children will develop hearing impairment?

0.75

6

differences between DNA and RNA

DNA - double stranded, more stable, deoxyribose backbone, ACGT, mostly nuclear.RNA - single stranded, less stable, ribose backbone, ACGU, cytoplasmic

7

what are the 4 base pairs in DNA

A, T, C, G Adenosine to thymine (2bonds) cytosine to guanine (3 bonds)

8

what does DNA polymerase do

forms new bonds between 2 DNA strands to make double helix and "proof reds" DNA

9

what will mutations in the coding sequence cause

missense mutations or premature stop codon.

10

what is nonsense mutation

AA changed for a stop codon

11

what is missense mutation

AA substituted for another AA

12

what is allelic heterogeneity

mutations of at the same locus cause a similar phenotype e.g. FGFR 2 - Apert, Pfeiffer, Crouzon

13

what is locus heterogeneity

mutations of different genes causing the same condition e.g retinitis pigmentosa, hypertrophic cardiomyopathy

14

what is haploinsifficiency

disease due to deletion of 1 of 2 genes required to produce protein.

15

what is an acrocentric chromosome, which chromosomes are acrocentric?

short arm (p) contains insignificant genetic material. Chromosomes 13, 14, 15, 21, 22

16

what is the risk of a birth defect with consaguineous parents

0.06

17

what is best indication of autosomal dominant inheritance?

father to son

18

what is the best indicator of x-linked dominant inheritance?

Father to daughter - all daughter have condition. Non-father to son.

19

copy number variation occur sporadically how often?

1 in every 50 births

20

what will microarray NOT pick up?

triploidy - 69 chromosomes in total.

21

what are the 2 types of microarray?

CGH - compare genome to control DNA and looks for losses and gains (green=amplification; red=deletion; yellow=balanced)SNP - detects variation in single nucleotide at specific locus.

22

what is the action of DNA polymerase in PCR testing? what are the actions of heat?

extends primers once they are affixed to single strands heat breaks the strands and splits the strand and primer.

23

what are the types of blots and what binds to them?

southern blot - DNA (Dandenong is south)western blot - Protein (Perth is west)Northern blot - RNA (Reservior is North)

24

what is allelic homogeneity? what disease displays this?

sequence Change is the same fro everyone e.g. achondroplasia

25

what are the phases of cardiac depolarisation - Action Potential?

(1) AP potentiated by permeability of Na into cell (2) Rapid depolarisation - opening Na channels (3) Plateau phase - slow repolarisation, opening Ca channels (4) Rapid repolarisation - potassium out and reduced entry of calcium(5) resting - potassium out and Na in.

26

what are the effects of hyper and hypokalaemia on action potential

hyperkalaemia = more depolarisation = widened QRS, peaked T wave, VFhypokalaemia = slower depolarisation = u wave, long PR, long QTc, flat T wave

27

how does adrenaline work on cardiac muscle?

binds to B1 increasing calcium entry to sarcolemma

28

how does digoxin work?

inhibits Na pump >> more calcium enters sarcolemma >> better contraction

29

what are the features of an innocent murmur and name 4 types?

systolic, no radiation, soft, asymptommatic, changes with posture. - Stills (LLSE, worse during febrile illness),- Pulmonary flow murmur (Prem), - Venous hum (loudest upright postion, clavicular), - Carotid bruit.

30

Bacteria for Infective endocarditis

strep viridans (dental), staph aureus, enterococcus, fungal, HACEK - haemophilus, acinobacter, cardiobacterium, eikenella, kingella

31

Prophylaxis indications and treatment

CHD non-repaired, Post repair with prosthetic valves 6monthsRHDRx Oral 1hr prior, IV 30min prior

32

management for congenital defects with high blood flow

sedationincrease peepincrease pCO2vasodilator transfuse blood

33

blood flow in expiration

blood flow increased to left side aortic stenosis >> widened splitting

34

blood flow in inspiration

blood flow increased to right sidewidened splitting >> pulmonary stenosis

35

what type of murmur is AR

early diastolic

36

type of murmur is MS

mid diastolic

37

what can myocarditis lead to?

heart block

38

what is the first management for Qtc prolongation

beta blockers

39

what does MR lead to?

cardiac overload and fractional shortening (decreased systolic function)

40

what medication would you treat tapeworm and hydatid cyst with?

albendazole - causes degeneration cytoplasmic microtubules

41

what nerve causes wrist drop?

radial nerve

42

what nerve causes claw hand?

ulnar nerve

43

How does infliximab work?

binds to TNF beta

44

how do you calculate anion gap?

Na - (bicarb+Chloride)

45

How does paracetamol cause hepatotoxicity

converted by CYP450 to N-acetyl limodoquinone which depletes glutathione and damages liver cell. Normally it is detoxified by conjugation with glutathione to cysteine & mercapturic acid

46

what is a side effect of ifosfamide and what agent is it

alkylating agent. Side effect renal tubular acidosis

47

what is ribavirin and what are the side effects

nucleoside inhibitor - interferes with RNA metabolism. Main side effect = haemolytic anaemia

48

What medications are CYP450 inducers

acronym = CRAP GP'Scarbamazepinerifampicinalcohol (chronic)phenytoin griseofulvin phenobarb sulphonylurea/St john'swort/spironolactone

49

what medications are CYP450 inhibitors

FACE-DIPfluconozoleallopurinolcimetidine eryhtromycin dextropropoxyphine imipramineOCP

50

how to urea cycle disorders present and give an example?

respiratory alkalosis, high ammonia, normal glucose and ketones. example = OTC deficiency

51

What are the features of permutation fragile X

females get early ovarian failuremales get ataxia

52

what changes are seen in tumour lysis syndrome

high phosphate high uric acid high potassiumlow calciumhigh lactate renal impairment

53

what 2 drugs must be avoided together in tumour lysis syndrome

sodium bicarb and uric oxidase

54

how many children will grow out of their nt allergy?

0.2

55

What are the posterior fossa tumours?

medulloblastoma (most common young kids)pilocytic astrocytoma (older kids)ependymoma (grows from ventricle)teratoid rhabdoid tumour

56

Erikson's stages

infancy 0-3yrs trust vs mistrustearly childhood 1-3yrs autonomy vs shame play age 3-6yrs initiative vs guilt school age 6-12yrs industry vs inferiority adolescence 12-19 identity vs confusion

57

what are the stages of thinking?

sensorimotor age 0-2pre-operational 2-6concrete operational 7-12formal operational 12+

58

when is stuttering a concern?

Normal in 3-4 year oldsRed flag - >4yoa, associated with tics, dystonia

59

when does colic peak?

6-8 weeks, up to 6hrs per day, increases early evening usually gone by 4-5 months

60

Visual test for 2-3 year old

kay picture test

61

visual test for 3-4 year old

sheridan gardiner test (letter/shape matching)

62

Incidence ROP <32/40Incidence severe ROP 27/40, and 24/40

10%3% but increases 34% 24/40

63

what is mild, moderate, severe and profound hearing

normal 20bDmild 25-40 bD (conversation quiet place)moderate 40-65 bD (will miss most conversation)severe 65-95bD (will not hear conversation)profound >95bD (speech will not develop without hearing aid)

64

What is the problem with Connexin 26 genetic hearing loss?

disruption of K flow babies have normal hearing at flow but develop rapidly progressing SNHL by 1-6yoa

65

What is the most common organism for acute OM

strep pneumo

66

what is the GMCSF scale

level of function for CP in diff environments1 - walks around no restrictions, problems with advanced skills 2 - walks without devices 3 - walks with mobility device, can get out of frame 4 - walks by self with mobility device, difficulty sitting 5 - needs wheelchair, head and trunk posture absent

67

what are the DNA fragility syndromes?

BFAX- Bloom - photosensitivity, hypogammaglobulinaemia, N intelligence - Fanconi - short, radial-thumb abnormalities, renal and anaemia - Ataxia telangiectasia- xeroderma pigmentosum - nucleotide excision repair, freckling +++, burns easily, skin cancer +++, age quickly.

68

IQ and level of function

mild 50-70 - semi-skilledmod 35-50 - unskilledsevere 20-35 - no workprofound <20 - dependant

69

what is the most common CP and treatment

spastic hemiplegiacan use baclofen (GABA b agonist) Dantrolene (decreases intracellular calcium)Haloperidol (dopamine antagonist)

70

what is the strongest predictor of mortality in CP?

intellectual disability

71

hip dislocation in CP is directly related to what measure?

GMFCS

72

What cancers are associated with RB germ line mutation?

retinoblastoma, osteosarcoma, pineoblastoma, melanoma

73

what brain cancers do you use chemotherapy?

germinoma, medulloblastoma, ependymoma, low grade gliomas

74

what is Parinaud syndrome and what tumour is it associated with?

inability to look up, pupillary dilatation (not reactive to light), nystagmus, eyelid retraction. associated with pineal region tumours - PNET, glioma

75

What are the inheritance syndromes for brain tumours? what is their inheritance?

NF-1 (glioma), NF2 (schwannoma), TS (astrocytoma), VonHippel Lindau (haemangioblastoma), Li-Fraumeni (astrocytoma), Cowden (gangliocytoma), Turcot (medulloblastoma) ALL AUTOSOMAL DOMINANT INHERITANCE

76

what syndrome are pilocytic astrocytomas associated with? How many become malignant?

NF-1, low grade gliomas, <5% malignant transformation

77

What are the features of medulloblastoma?

occur in cerebellum only, small round blue cell tumour, aggressive - evolve over weeks to months, malignant

78

What deletion is commonly associated with medulloblastoma?

Cr 17p deletion (associated 30-40% cases)

79

What is favourable prognostic markers for medulloblastoma?

sonic hedgehogWNTTRKC

80

what is unfavourable prognostic indicator for medulloblastoma?

MYC amplificationtyrosine kinase receptor ERBB2 amplification

81

what are the post operative problems after removal of craniopharnygioma?

Diabetes insipidus, SIADH (secondary to cutting pituitary stalk)

82

How can a craniopharyngioma present on imaging?

can be a cystic structure with calcifications

83

what adenomas are common in (1) young children and (2) older children?

(1) ACTH secreting (2) prolactinoma

84

What are the clinical features of pituitary stalk germinoma?

Peak 10-12years of age, present with DI, visual changes, headache secondary to hydocephalus, there is pituitary stalk thickening, CSF will be positive for bHCG & AFP. can be diagnosed without biopsy

85

How do you diagnose neuroblastoma?

urine catecholamines HVA, VMA & dopamine

86

how does neuroblastoma present?

SICK childrenabdominal mass, Can have Horners syndrome, SVC syndrome or spinal cord compression.

87

what is associated with poor prognosis in Neuroblastoma?

N-MyC amplification (1p deletion)

88

what is good prognosis for neuroblastoma?

<1year old, tumour not crossing midline, hyper diploid

89

hodgkin lymphoma - age, sex, presentation

teens, females, prolonged presentation with lymph nodes, mediatinal mass, B symptoms

90

Good prognostic indicators ALL

1-10years old, WCC 50 chromosomes), Trisomy 4, 10, 17, HyperdiploidTEL AML, Translocation 12:21 (ETV-RUNX) no extramedullary disease

91

Bad prognostic indicators ALL

10 years old, WCC >50, hypodiploid (<44 Chr), Philadelphia Chr 9:22 BRC-ABL, MLL rearrangement, extra medullary disease

92

What has biggest effect of ALL prognosis

Minimal residual disease at the end of induction (>0.01% = bad)

93

what are the risk factors for wilms tumour

beckwith weidemann, hemihypertrophy, urogenital malformations, NF-1, WT-1 (DenysDrash, WAGR)

94

what are the favourable factors for rhabdomyosarcoma

age 1-10, <5cm size, not in bladder/prostate (that is bad)

95

what is syndromes are associated with hepatoblastoma

beckwith weidemann, hemihypertrophy, FAP, Low Birth Weight Fetal alcohol syndrome

96

Which lobe is commonly affected in hepatoblastoma

right lobe

97

which tumour is seen most commonly secondary to radiation

angiosarcoma

98

what are the features in osteosarcomas

older children, local pain and swelling, metaphysis of long bones (distal femur and proximal tibia, proximal humerus), sunburst pattern on X-ray

99

what are the features of ewings

younger children, systemic symptoms, diaphysis of long bones and flat bones, translocation 11;22 in 85%

100

what are a feature of an osteoid Osteoma

pain is relieved by aspirin

101

what are the pathological findings specific for langerhan histiocytosis

birbeck granules, CD1a and CD207

102

what is the best treatment for lymph proliferative disease

Rituximab (antiCD20) and bone marrow transplant

103

what are the diagnostic criteria for HLH

fever >38.5, splenomegaly, cytopenia (2-3 cell lines), haemophagocytosis, high triglycerides, low fibrinogen, ferritin >500, raised CD 25, low or absent NK activity

104

which AML is best treated with retinoic acid

APML (M3)

105

what is the order for best source of haemopoetic stem cell transplant

cord blood> bone marrow > peripheral blood

106

what is the order for best donor for haemopoetic stem cell transplant

HLA sibling > HLA unrelated> Relative NON-HLA matched

107

if an A patient receives donor graft from an O patient what should you remove

plasma

108

what should you remove if the patient is O and the donor is A

red blood cells

109

what cancer does SVC obstruction more likely to occur

T cell ALL or lymphoma

110

how does rasburicase work

recombinant urate oxidase changes uric acid to allantoin

111

what must you never give with rasburicase

sodium bicarb

112

what are the indications for dialysis in tumour lysis syndrome

phosphate >10, potassium >6, volume overload, low calcium with symptoms

113

what is infection are you particularly at risk of with prolonged neutropenia

fungal infection >5-7days

114

what antibiotics should you give for febrile neutropenia

amikacin / gent or Tazocin

115

which cancer has the highest rate of secondary malignancies

hodgkins lymphoma 7%

116

what si the risk of secondary malignancy with ALL and what cancers are seen?

2-3%, brain tumour and AML seen

117

CYCLOPHOSPHAMIDE

Alkylating agent haemorrhagic cystitisbladder cancerinfertility

118

VINCRISTINE

acts on microtubules, M phase peripheral neuropathyjaw painconstipationburn on extravasationdoesn't cause myelosuppression

119

ASPARGINASE

G1 phase thrombus and DIC

120

DOXORUBICIN

anthracycline, S phase cardiac effectsred urine

121

ETOPOSIDE

M phase secondary malignancyanaphylaxis myelosuppression

122

CISPLATIN

all phases, platinTOXIC myelosuppressionhearing loss low Mg, K hair lossdelayed emesis

123

CYCLOSPORIN

Calcineurin inhibitor gingival hyperplasia renal toxicityhigh BPhigh Lipids Hirsuitism

124

THIGUAMINE

S phase DNA analogue Veno-occlusive disease

125

CYTOSINE ARABINOSIDE

cerebellar toxicity - ataxia, intention tremour

126

IMATINIB

QT prolongation

127

CYTARABINE

S phase cytokine stormstrep infectionmyelosuppression

128

what are the gram positive organisms

COCCI = staph, strep, enterococcusRODS = listeria, corynebacteria, clostridia, norcardia

129

What causes scarlet fever and how does it present

Group A streprash goosebumps like & linear along creases (elbows, axillae, groin). Escalation of face downwards.

130

What is PANDAS

paediatric autoimmune neuropsychiatric disorders associated with STREP Pyogenes (autoimmune antibodies cross react with brain tissue)

131

how does enterococcus have resistance to aminoglycosides, clidamycin and erythromycin

altered ribosomal binding

132

what bacteria causes toxic shock syndrome

TSST-1 producing Staph Aureus and also Strep pyogenes - produces super antigens (Note many may not have + BC)

133

what are the gram negative bacteria

COCCI = neisseria, moraxella, kingellaeRODS = E.coli, Klebsiella, Proteus, Salmonella, Shigella, Enterobacter, Pseudomonas, vibrioOTHER = Haemophilus, H. Pylori

134

what is most important for protection against Neisseria meningitidis infections

complement

135

when can a child go back to school after pertussis

after 5 days of antibiotics or >21 days of cough

136

afte how long does pertussis vaccination wane

3-5 years

137

when is RotaTeq contraindicated

After 12 weeks/3months of age and last dose should be given by 32 weeks/8months of age Normally given 2, 4, 6 months

138

what causes papular purpuric "gloves and stocking" syndrome

parvovirus characterised by fever, pruritus, painful oedema and erythema in gloves and stocking distribution.

139

what malignancies is EBV associated with

nasopharyngealcarcinoma, Burkitt lymphoma, Hodgkin disease, lymphoproliferative disease (Duncan x-linked), PTLD

140

when should a baby receive ZIG if the mother has chicken pox

if the mother develops chicken pox 7 days before and 2 days after delivery

141

what virus is commonly implicated in myocarditis and what will the ecg show

coxsackieB ECG will show low voltage QRS, ST-T changes, PR prolongation, premature beats

142

how does measles present?

small vessel vasculitis with rash starting at the hairline, koplik spots and conjunctivitis

143

when are patients with measles infectious?

3 days prior and 6 days post rash

144

what does measles cause illness

Affects CD4 cells suppresses Th1 response

145

what is the most common cause of death in measles

pneumonia (usually complicated with Strep pneumo infection)

146

what is the post exposure prophylaxis for measles

NHIG up to 6 days post exposure (immunocompromised and children <9 months with no maternal immunity)Vaccine within 72 hrs of exposure for those older than 9 months

147

what are the medications for TB

RIPERifampicin - inhibits RNAIsoniazid - interrupts cell wallPyrazinamide - bactericidalEthambutol - inhibit RNA synthesis

148

what protein allows HIV to enter the T cell

gp41

149

antepartum, intrapartum and postpartum/infant treatment reduces HIV transmission by how much

0.66

150

what antibiotics act on protein synthesis

aminoglycosides, macrolides (interact with ribosome)

151

how does ciprofloxacin act

on DNA topoisomerase

152

Where does trimethoprim act

on folic acid metabolism

153

where does rifampicin act

mRNA synthesis

154

what bacteria have beta-lactamase activity

PHEN = pseudomoas, Haem.influenza, Enterobacter, Neisseria

155

what does the seasonal influenza vaccine include

H1N1, H3N2, Influenza B

156

what is a serious side effect of acyclovir

neutropenia, leukopenia, nephrotoxicity SJS

157

what does the THIN smear in malaria diagnose?

species of malaria

158

what do you use albendazole for

wormswhipworm /truchuris trichiuria hydatid disease

159

what do you use praziquantel for

tapeworm / taenia schistosomiasis

160

what kind of virus is parvovirus

DNA virus

161

when is herpes virus most risk to the baby

if primary infection and contracted later in pregnancy and not seroconverted by 30-34weeks >> treat with aciclovir then 6 months oral prophylaxis (better developmental outcomes)

162

what is the treatment for congenital CMV infection

Ganciclovir for 6 weeks

163

catalase + organisms

staphaspergillus (voriconozole)serratiaburkholderianocardia (clarithr)

164

what are the ESCAPPM bacteria and what can they do.

enterobacter, serratia, citrobacter, aeromonas, proteus, providencia, morganellaInduce b-lactamases

165

what are MRSA antibiotics

vancclindaciprorifampdoxy

166

what bacteria have virulence through penicillin binding proteins

MRSAPneumococcalEnterococcus

167

what is mean arterial pressure in pulmonary circulation?

10 mmHg

168

what are the surfactant proteins and their actions?

Protein A and D = hydrophillicProtein B & C = hydrophobic Protein A = immune defence, protect surfactant, reabsorption and distribution surfactant B = only found in lungs, distribution of surfactant, essential for lung functionC = enhances rate absorption of surfactant D = defence

169

What are the stages of lung development?

(1) embryonic - weeks 4-5 - lung buds(2) pseudoglandular - weeks 5-17 - branching, **TOF most likely occurs at this stage(3) canalicular - 16-25 weeks - bronchial tree, pneumocytes(4) Saccular - 24/40 - alveolar ducts and sacs (5) Alveolar - up to 8yrs - further development of alveoli and capillaries

170

what causes obstructive lung function picture?

asthma, CF, bronchiolitis obliterans

171

What causes restrictive lung disease

NMD, obesity, interstitial lung disease

172

what causes variable intrathoracic obstruction

bronchomalacia, tracheomalacia, tumour, Moriquio syndrome

173

What causes variable extra thoracic obstruction

vocal cord palsy(unilateral), croup, laryngeal web, laryngomalacia

174

What happens to FEV1, FVC and FEV1/FVC ratio in obstructive, restrictive and mixed disease?

Obstructive = FEV1 down, FVC down/normal, FEV1/FVC downRestrictive = FEV1 normal/down, FVC down, FEV1/FVC up/normalMixed = all parameters down

175

FEV1 values and degree obstruction?

>70% mild >50% moderate>35% severe<35% very severe

176

what is the major determinant of total lung capacity and residual volume

lung elastic recoil

177

what is the biggest risk factor for asthma and pre-school wheeze

maternal smoking

178

what is the FEV1 classification for mild, mod and severe asthma

FEV 1 >80% = mild FEV1 <60% = severe

179

how do B2 agonists work?

increase cAMP, decrease Calcium release leading to bronchodilationSE = hypokalaemia, metabolic acidosis

180

How does aminophylline work?

PDE inhibitor, increase cAMP , decrease Calcium leading to dilatation Also inhibit TNF alpha, leukotrienes SE = Nausea, vomiting, palpitations, arrhythmia

181

How do steroids work?

inhibit phospholipase A2 and decrease inflammation SE = growth (max 1.1 cm loss in height), adrenal suppression (>750mcg fluticasone)

182

What is the most syndrome associated with Pierre Robin sequence?

Stickler COL11A/B, COL2AEYE - glaucoma, cataractJoint hyper mobility

183

What are the 3 most common causes of stridor in the neonate?

(1) Laryngomalacia - normal cry(2) subglottic stenosis - normal cry(3) vocal cord palsy - weak cry

184

what is the most common bacterial organism in bronchiectasis

Non-typable H. influenza

185

What mutation in CF does ivacaftor work for?

G551D acts to potentiate CFTR Cl channel

186

what colour is sputum in ABPA infection

rust coloured

187

how do you treat ABPA

steroids and intraconozole/voriconozole

188

when is a sweat test positive

75mg sweat, >60mmol Cl (<40 = normal)

189

Reasons for false positive sweat test?

adrenal insufficiencyhypothyroidhypoparathyroidglycogen storage diseaseMPSG6PDDiabetes InsipidusKlinefelters

190

what are classes of CF defects

decreased synthesis defective protein (delta F508)defective regulation (G551D)defective conductionReduced quantityIncreased death

191

how does Ataluren work

allows ribosomal read through in mRNA - works for nonsense mutations in CF

192

what is the best practice to prevent spread of RSV

hand washing

193

what is palivizumab active against?

RSV R protein

194

what difference does Palivizumab make

decrease in hospitalisation by 50%. NO effect on need for ventilation or mortality

195

a baby presents at 4 weeks with staccato cough, afebrile pneumonia. What is the organism? what is the most common mode transmission?

chlamydia trochomanisintrapartum transmission

196

what bacteria most likely causes empyema/effusion

step pneumonia

197

How should children at risk of TB with negative Mantoux test be managed?

isoniazid for 12 weeks and retest in 3 months

198

what are the side effects of isoniazid

hepatitis and peripheral neuropathy

199

what are the side effects rifampicin

haemolytic anaemia, thrombocytopenia

200

what is a side effect Ethambutol

optic neuritis (avoid <7YOA)

201

what is a side effect pyrazinamide

arthralgia, gout, hyperglycaemia

202

how many events per hour indicate OSA severity

1-5 events = mild5-10 events = moderate >10 = severe

203

Features of Congenital Central Hypoventilation syndrome?

PHOX2B gene polyalamine repeat expansion >28 = day and night SxNREM sleep affected more that REMAssociated with Hirschsprungs, Neuroblastoma, Ganglioneuroma, arrythmias, sluggish pupillary response

204

what does maltose come from and become?

starch > maltose > glucose

205

what is the monosaccharide of glucose and galactose?

lactose

206

what are the disaccharides of sucrose?

glucose and fructose

207

what is the transported for fructose?

GLUT 5

208

what is the glucose & galactose transporter?

GLUT 2

209

what mechanisms are proteins absorbed

active sodium transport & facilitated diffusion

210

Features Pearson Syndrome

Mitochondrial myopathy pancreatic insufficiency anaemia ring sideroblasts

211

HLA subtypes for coeliac disease

HLA DQ2/8

212

HLA subtypes for Crohn's disease

HLADR3 & HLA DQ2

213

Best test in stool for IBD

faecal calprotectin

214

How does allopurinol help with TPMT shunting?

inhibits xanthine oxidase pathway

215

what TPMT pathway helps with controlling disease?

6TG but can also cause myelosuppression

216

what are the kcal of fat, glucose and protein?

fat = 9 kcalprotein = 4 kcalglucose = 3.5 kcal

217

features re-feeding syndrome?

low phosphate, magnesium and potassium

218

how to calculate osmotic gap in diarrhoea

290 - 2 x (Na + Cl)<50 = secretory100 = osmotic

219

what can reduce duration and severity of diarrhoea?

Zinc 10mg /day 10-14 days

220

what kind of vaccine is Rotateq

live attenuated

221

Features Meckels

age 2 years painless rectal bleeding or can present with intussusception (lead point)

222

what are colonic polyp syndromes

- Juvenile polyposis (50% risk CRC)- FAP - APC gene (100% risk CRC also hepatoblastoma)- Peutz-Jegher (mucocutaneous pigmentation, 50-90% risk cancer)

223

prevalence of cows milk intolerance ?

2% <2 yrs

224

options for treating cow's milk intolerance

1) extensively hydrolysed formulas - Peptijunior, Alfare2) Amino acid formulas - Electra, Neocate

225

congenital lactase deficiency features?

diarrhoea from birth hypercalcaemia and renal stones

226

what enzyme is deficient in Criggler Najar

glucaronyl transferase Type 2 - AD form has partial activity

227

what ANCA can be abnormal in alpha 1 antitrypsin

c-ANCA

228

what malignancy is primary sclerosing cholangitis associated with?

hepatobiliary malignancy screen with Ca19-9

229

what is neonatal hepatitis characterised by

giant cells

230

what causes breast milk jaundice

B- glucoronidase enzyme

231

Types of autoimmune hepatitis

type 1 anti-smooth muscle - reponsive steroidstype 2 antiLKM - associated APS-1 and less responsive steroidsNote: ALP normal

232

treatment wilsons

penecillamine / trientene low copper diet (liver, nuts, shellfish, chocolate)zincplasmapharesis

233

what kind of virus is HBV

dsDNA virus

234

which Hep C genotype has best response to therapy

IL28B

235

what is recurrence rate of neonatal haemochromatosis

90% (decreased with IVIG given from 18 weeks)

236

what is the mechanism of injury in neonatal haemochromatosis

complement mediated injury

237

what is rituximab

anti-CD20

238

how does sirolimus work

inhibits IL-2 by action on mTOR pathway

239

How does PFIC present?

pruritis, gallstones pale stools but not obstructive LFTs

240

types of PFIC

TYPE 1- FIC1 transporter- diarrhoea as transporter also active in intestine- SNHL- normal or low GGTTYPE 2- BSEP transporter- GGT normal - risk hepatitis and malignancy TYPE 3- MDR3 transporter - high GGT

241

how to calculate Positive likelihood ratio and negative likelihood ratio?

PPV = sensitivity / (100-specificity)NPV = (100-sensitivity) / specificity

242

How do you calculate relative risk

PPV / NPV RR >1 treatment increases risk of outcome RR <1 treatment decreases the risk of outcome

243

what is type 1 error and how can it be reduced?

rejects a null hypothesis when it is true (false positive). reduced by lower p value (increasing sample size)

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what is type 2 error and how can it be best reduced?

failure to reject the null hypothesis when it is wrong (false negatives). it can be reduced by increasing the power of a study - population size, size effect, variance

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polysaccharide conjugate vaccines

Hib, meningococcal, pneumococcal

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protein subunit vaccines / recombinant

Hep B, influenza, pertussis, HPV

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toxoid vaccines

diptheria tenanus

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which vaccines are inactivated/killed

polio, Hep A, rabies, Rotateq

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what are the phases of clinical trials

phase 0 = pharmacokinetics / pharmacodynamicsphase 1 = safetyphase 2 = dose range, safetyphase 3 = efficacy vs gold standardphase 4 = post marketing surveillance

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how can you improve internal validity

randomisation, blinding, intention to treat, appropriate comparator, published protocol

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how can you improve external validity

multi-centre, wide inclusion, limit exclusion criteria, selection of patients, differences protocol to routine practice.

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how do you reduce attrition bias

randominsation and intention to treat

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what is the Cohen effect size

used in forrest plots <0.2 small0.5 mod 0.8 large

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what is a case-control study?

retrospective, good for rare diseasessubject to recall bias and selection bias confounding

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what is a cross-sectional study?

good for prevalence single time point

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what is cohort study?

begins with exposed persons and monitors for disease can calculate relative risk good for common disease, rare exposure biggest threat = loss to follow-up

257

what drugs cause gynecomastia?

digoxin, spironolactone, cyclosporin

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Digoxin side effects?

yellow vision and blurred vision

259

what is potential serious side effect of Vitamin A

pseudomotor cerebri

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what is the mechanism of action for beta-lactam antibiotics

time above MIC

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what increases the action of theophylline

eryhtromycin

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what will decrease the action of glucocorticoids

rifampicin

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what drugs are renally cleared

metformin allopurinol lithium digoxin methotrexate

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what is anticlockwise hysteresis

delay is distribution of the drug to site of action e.g. digoxin

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what is clockwise hysteresis

tacchyphylaxis - initial dose has good effect but effect diminished with repeat dosing e.g. amphetamines

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side effects carbamazepine

SJSDRESSleukopeniahyponatraemia

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side effects sodium valproate

weight gainpancreatitis hepatic failure lamotrigine interaction teratogenic

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side effects phenytoin

hissuitismgum hypertrophyserum sicknessosteoporosis

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what drugs are at greatest risk of SJS

carbamazepine, lamotrigine

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side effects vigabatrin

weight gain retinopathy, psychosis

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side effects topiramate

renal stonesweight loss acidosisglaucoma

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what is suggestive of PPHN

pre and post ductal difference >20%pre-ductal sats <90%

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what are the target saturation at what minutes after birth in neonatal resus?

1 min 60-70%2min 65-85%3min 70-90%4min 75 -90%5min 80-90%10min 85-90%

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how can you measure UAC and UVC position

UAC = (weight x 3) +9. ideal position T6-9 UVC = (weight x 1.5) + 5.5 ideal T9-10, junction ductus venous & IVC

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What is the most important complication of BPD

pulmonary hypertension

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what is artificial surfactant made of?

DPPC + SPB and SPC

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indications of HIE and classification

mild - hypertonia, dilated pupils, tacchycardicmod - hypotonia, constricted pupils, seizures severe - comatose, no reflexes

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indications for cooling

acidosis pH 35/40 within 6hrs of birth Cool 33.5 degrees 72hrs

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outcomes of HIE

mild - nilmod - 5% mortality, 20% morbiditysevere - 75% mortality, 90+% morbidity

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Survival stats for pre-terms

23/40 25% survival, 90% disability24/40 65% survival, 75% disability 25/40 85% survival ~50% no disability28/40 95% survival

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how do you calculate mean airway pressure?

(Pip x i-time) + (PeeP x e-time) / i-time + e-time

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How can you calculate GIR

(dextrose % x IV rate) / (6 x weight) formula has dextose concentration of 7%

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what are the results for Palavizumab

reduced hospitalisation by 50% (10% to 5%)DOES NOT reduce need for ventilation or mortality