Flashcards in All flash part 2 Deck (283):
what is the risk of Down syndrome in a 40 year old mother
1 in 85
how often does Robersonian translocation cause down syndrome, which is most common?
4% robertsonian translocation cause down, most common is 14;21
what is the rate is recurrence of robertsonian translocations
14;21 - 20% (mother), 5% (Father), 1% de novo21;21 - 100%
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
how many down syndrome children will develop hearing impairment?
differences between DNA and RNA
DNA - double stranded, more stable, deoxyribose backbone, ACGT, mostly nuclear.RNA - single stranded, less stable, ribose backbone, ACGU, cytoplasmic
what are the 4 base pairs in DNA
A, T, C, G Adenosine to thymine (2bonds) cytosine to guanine (3 bonds)
what does DNA polymerase do
forms new bonds between 2 DNA strands to make double helix and "proof reds" DNA
what will mutations in the coding sequence cause
missense mutations or premature stop codon.
what is nonsense mutation
AA changed for a stop codon
what is missense mutation
AA substituted for another AA
what is allelic heterogeneity
mutations of at the same locus cause a similar phenotype e.g. FGFR 2 - Apert, Pfeiffer, Crouzon
what is locus heterogeneity
mutations of different genes causing the same condition e.g retinitis pigmentosa, hypertrophic cardiomyopathy
what is haploinsifficiency
disease due to deletion of 1 of 2 genes required to produce protein.
what is an acrocentric chromosome, which chromosomes are acrocentric?
short arm (p) contains insignificant genetic material. Chromosomes 13, 14, 15, 21, 22
what is the risk of a birth defect with consaguineous parents
what is best indication of autosomal dominant inheritance?
father to son
what is the best indicator of x-linked dominant inheritance?
Father to daughter - all daughter have condition. Non-father to son.
copy number variation occur sporadically how often?
1 in every 50 births
what will microarray NOT pick up?
triploidy - 69 chromosomes in total.
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.
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.
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)
what is allelic homogeneity? what disease displays this?
sequence Change is the same fro everyone e.g. achondroplasia
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.
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
how does adrenaline work on cardiac muscle?
binds to B1 increasing calcium entry to sarcolemma
how does digoxin work?
inhibits Na pump >> more calcium enters sarcolemma >> better contraction
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.
Bacteria for Infective endocarditis
strep viridans (dental), staph aureus, enterococcus, fungal, HACEK - haemophilus, acinobacter, cardiobacterium, eikenella, kingella
Prophylaxis indications and treatment
CHD non-repaired, Post repair with prosthetic valves 6monthsRHDRx Oral 1hr prior, IV 30min prior
management for congenital defects with high blood flow
sedationincrease peepincrease pCO2vasodilator transfuse blood
blood flow in expiration
blood flow increased to left side aortic stenosis >> widened splitting
blood flow in inspiration
blood flow increased to right sidewidened splitting >> pulmonary stenosis
what type of murmur is AR
type of murmur is MS
what can myocarditis lead to?
what is the first management for Qtc prolongation
what does MR lead to?
cardiac overload and fractional shortening (decreased systolic function)
what medication would you treat tapeworm and hydatid cyst with?
albendazole - causes degeneration cytoplasmic microtubules
what nerve causes wrist drop?
what nerve causes claw hand?
How does infliximab work?
binds to TNF beta
how do you calculate anion gap?
Na - (bicarb+Chloride)
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
what is a side effect of ifosfamide and what agent is it
alkylating agent. Side effect renal tubular acidosis
what is ribavirin and what are the side effects
nucleoside inhibitor - interferes with RNA metabolism. Main side effect = haemolytic anaemia
What medications are CYP450 inducers
acronym = CRAP GP'Scarbamazepinerifampicinalcohol (chronic)phenytoin griseofulvin phenobarb sulphonylurea/St john'swort/spironolactone
what medications are CYP450 inhibitors
FACE-DIPfluconozoleallopurinolcimetidine eryhtromycin dextropropoxyphine imipramineOCP
how to urea cycle disorders present and give an example?
respiratory alkalosis, high ammonia, normal glucose and ketones. example = OTC deficiency
What are the features of permutation fragile X
females get early ovarian failuremales get ataxia
what changes are seen in tumour lysis syndrome
high phosphate high uric acid high potassiumlow calciumhigh lactate renal impairment
what 2 drugs must be avoided together in tumour lysis syndrome
sodium bicarb and uric oxidase
how many children will grow out of their nt allergy?
What are the posterior fossa tumours?
medulloblastoma (most common young kids)pilocytic astrocytoma (older kids)ependymoma (grows from ventricle)teratoid rhabdoid tumour
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
what are the stages of thinking?
sensorimotor age 0-2pre-operational 2-6concrete operational 7-12formal operational 12+
when is stuttering a concern?
Normal in 3-4 year oldsRed flag - >4yoa, associated with tics, dystonia
when does colic peak?
6-8 weeks, up to 6hrs per day, increases early evening usually gone by 4-5 months
Visual test for 2-3 year old
kay picture test
visual test for 3-4 year old
sheridan gardiner test (letter/shape matching)
Incidence ROP <32/40Incidence severe ROP 27/40, and 24/40
10%3% but increases 34% 24/40
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)
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
What is the most common organism for acute OM
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
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.
IQ and level of function
mild 50-70 - semi-skilledmod 35-50 - unskilledsevere 20-35 - no workprofound <20 - dependant
what is the most common CP and treatment
spastic hemiplegiacan use baclofen (GABA b agonist) Dantrolene (decreases intracellular calcium)Haloperidol (dopamine antagonist)
what is the strongest predictor of mortality in CP?
hip dislocation in CP is directly related to what measure?
What cancers are associated with RB germ line mutation?
retinoblastoma, osteosarcoma, pineoblastoma, melanoma
what brain cancers do you use chemotherapy?
germinoma, medulloblastoma, ependymoma, low grade gliomas
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
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
what syndrome are pilocytic astrocytomas associated with? How many become malignant?
NF-1, low grade gliomas, <5% malignant transformation
What are the features of medulloblastoma?
occur in cerebellum only, small round blue cell tumour, aggressive - evolve over weeks to months, malignant
What deletion is commonly associated with medulloblastoma?
Cr 17p deletion (associated 30-40% cases)
What is favourable prognostic markers for medulloblastoma?
what is unfavourable prognostic indicator for medulloblastoma?
MYC amplificationtyrosine kinase receptor ERBB2 amplification
what are the post operative problems after removal of craniopharnygioma?
Diabetes insipidus, SIADH (secondary to cutting pituitary stalk)
How can a craniopharyngioma present on imaging?
can be a cystic structure with calcifications
what adenomas are common in (1) young children and (2) older children?
(1) ACTH secreting (2) prolactinoma
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
How do you diagnose neuroblastoma?
urine catecholamines HVA, VMA & dopamine
how does neuroblastoma present?
SICK childrenabdominal mass, Can have Horners syndrome, SVC syndrome or spinal cord compression.
what is associated with poor prognosis in Neuroblastoma?
N-MyC amplification (1p deletion)
what is good prognosis for neuroblastoma?
<1year old, tumour not crossing midline, hyper diploid
hodgkin lymphoma - age, sex, presentation
teens, females, prolonged presentation with lymph nodes, mediatinal mass, B symptoms
Good prognostic indicators ALL
1-10years old, WCC 50 chromosomes), Trisomy 4, 10, 17, HyperdiploidTEL AML, Translocation 12:21 (ETV-RUNX) no extramedullary disease
Bad prognostic indicators ALL
10 years old, WCC >50, hypodiploid (<44 Chr), Philadelphia Chr 9:22 BRC-ABL, MLL rearrangement, extra medullary disease
What has biggest effect of ALL prognosis
Minimal residual disease at the end of induction (>0.01% = bad)
what are the risk factors for wilms tumour
beckwith weidemann, hemihypertrophy, urogenital malformations, NF-1, WT-1 (DenysDrash, WAGR)
what are the favourable factors for rhabdomyosarcoma
age 1-10, <5cm size, not in bladder/prostate (that is bad)
what is syndromes are associated with hepatoblastoma
beckwith weidemann, hemihypertrophy, FAP, Low Birth Weight Fetal alcohol syndrome
Which lobe is commonly affected in hepatoblastoma
which tumour is seen most commonly secondary to radiation
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
what are the features of ewings
younger children, systemic symptoms, diaphysis of long bones and flat bones, translocation 11;22 in 85%
what are a feature of an osteoid Osteoma
pain is relieved by aspirin
what are the pathological findings specific for langerhan histiocytosis
birbeck granules, CD1a and CD207
what is the best treatment for lymph proliferative disease
Rituximab (antiCD20) and bone marrow transplant
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
which AML is best treated with retinoic acid
what is the order for best source of haemopoetic stem cell transplant
cord blood> bone marrow > peripheral blood
what is the order for best donor for haemopoetic stem cell transplant
HLA sibling > HLA unrelated> Relative NON-HLA matched
if an A patient receives donor graft from an O patient what should you remove
what should you remove if the patient is O and the donor is A
red blood cells
what cancer does SVC obstruction more likely to occur
T cell ALL or lymphoma
how does rasburicase work
recombinant urate oxidase changes uric acid to allantoin
what must you never give with rasburicase
what are the indications for dialysis in tumour lysis syndrome
phosphate >10, potassium >6, volume overload, low calcium with symptoms
what is infection are you particularly at risk of with prolonged neutropenia
fungal infection >5-7days
what antibiotics should you give for febrile neutropenia
amikacin / gent or Tazocin
which cancer has the highest rate of secondary malignancies
hodgkins lymphoma 7%
what si the risk of secondary malignancy with ALL and what cancers are seen?
2-3%, brain tumour and AML seen
Alkylating agent haemorrhagic cystitisbladder cancerinfertility
acts on microtubules, M phase peripheral neuropathyjaw painconstipationburn on extravasationdoesn't cause myelosuppression
G1 phase thrombus and DIC
anthracycline, S phase cardiac effectsred urine
M phase secondary malignancyanaphylaxis myelosuppression
all phases, platinTOXIC myelosuppressionhearing loss low Mg, K hair lossdelayed emesis
Calcineurin inhibitor gingival hyperplasia renal toxicityhigh BPhigh Lipids Hirsuitism
S phase DNA analogue Veno-occlusive disease
cerebellar toxicity - ataxia, intention tremour
S phase cytokine stormstrep infectionmyelosuppression
what are the gram positive organisms
COCCI = staph, strep, enterococcusRODS = listeria, corynebacteria, clostridia, norcardia
What causes scarlet fever and how does it present
Group A streprash goosebumps like & linear along creases (elbows, axillae, groin). Escalation of face downwards.
What is PANDAS
paediatric autoimmune neuropsychiatric disorders associated with STREP Pyogenes (autoimmune antibodies cross react with brain tissue)
how does enterococcus have resistance to aminoglycosides, clidamycin and erythromycin
altered ribosomal binding
what bacteria causes toxic shock syndrome
TSST-1 producing Staph Aureus and also Strep pyogenes - produces super antigens (Note many may not have + BC)
what are the gram negative bacteria
COCCI = neisseria, moraxella, kingellaeRODS = E.coli, Klebsiella, Proteus, Salmonella, Shigella, Enterobacter, Pseudomonas, vibrioOTHER = Haemophilus, H. Pylori
what is most important for protection against Neisseria meningitidis infections
when can a child go back to school after pertussis
after 5 days of antibiotics or >21 days of cough
afte how long does pertussis vaccination wane
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
what causes papular purpuric "gloves and stocking" syndrome
parvovirus characterised by fever, pruritus, painful oedema and erythema in gloves and stocking distribution.
what malignancies is EBV associated with
nasopharyngealcarcinoma, Burkitt lymphoma, Hodgkin disease, lymphoproliferative disease (Duncan x-linked), PTLD
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
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
how does measles present?
small vessel vasculitis with rash starting at the hairline, koplik spots and conjunctivitis
when are patients with measles infectious?
3 days prior and 6 days post rash
what does measles cause illness
Affects CD4 cells suppresses Th1 response
what is the most common cause of death in measles
pneumonia (usually complicated with Strep pneumo infection)
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
what are the medications for TB
RIPERifampicin - inhibits RNAIsoniazid - interrupts cell wallPyrazinamide - bactericidalEthambutol - inhibit RNA synthesis
what protein allows HIV to enter the T cell
antepartum, intrapartum and postpartum/infant treatment reduces HIV transmission by how much
what antibiotics act on protein synthesis
aminoglycosides, macrolides (interact with ribosome)
how does ciprofloxacin act
on DNA topoisomerase
Where does trimethoprim act
on folic acid metabolism
where does rifampicin act
what bacteria have beta-lactamase activity
PHEN = pseudomoas, Haem.influenza, Enterobacter, Neisseria
what does the seasonal influenza vaccine include
H1N1, H3N2, Influenza B
what is a serious side effect of acyclovir
neutropenia, leukopenia, nephrotoxicity SJS
what does the THIN smear in malaria diagnose?
species of malaria
what do you use albendazole for
wormswhipworm /truchuris trichiuria hydatid disease
what do you use praziquantel for
tapeworm / taenia schistosomiasis
what kind of virus is parvovirus
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)
what is the treatment for congenital CMV infection
Ganciclovir for 6 weeks
catalase + organisms
staphaspergillus (voriconozole)serratiaburkholderianocardia (clarithr)
what are the ESCAPPM bacteria and what can they do.
enterobacter, serratia, citrobacter, aeromonas, proteus, providencia, morganellaInduce b-lactamases
what are MRSA antibiotics
what bacteria have virulence through penicillin binding proteins
what is mean arterial pressure in pulmonary circulation?
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
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
what causes obstructive lung function picture?
asthma, CF, bronchiolitis obliterans
What causes restrictive lung disease
NMD, obesity, interstitial lung disease
what causes variable intrathoracic obstruction
bronchomalacia, tracheomalacia, tumour, Moriquio syndrome
What causes variable extra thoracic obstruction
vocal cord palsy(unilateral), croup, laryngeal web, laryngomalacia
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
FEV1 values and degree obstruction?
>70% mild >50% moderate>35% severe<35% very severe
what is the major determinant of total lung capacity and residual volume
lung elastic recoil
what is the biggest risk factor for asthma and pre-school wheeze
what is the FEV1 classification for mild, mod and severe asthma
FEV 1 >80% = mild FEV1 <60% = severe
how do B2 agonists work?
increase cAMP, decrease Calcium release leading to bronchodilationSE = hypokalaemia, metabolic acidosis
How does aminophylline work?
PDE inhibitor, increase cAMP , decrease Calcium leading to dilatation Also inhibit TNF alpha, leukotrienes SE = Nausea, vomiting, palpitations, arrhythmia
How do steroids work?
inhibit phospholipase A2 and decrease inflammation SE = growth (max 1.1 cm loss in height), adrenal suppression (>750mcg fluticasone)
What is the most syndrome associated with Pierre Robin sequence?
Stickler COL11A/B, COL2AEYE - glaucoma, cataractJoint hyper mobility
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
what is the most common bacterial organism in bronchiectasis
Non-typable H. influenza
What mutation in CF does ivacaftor work for?
G551D acts to potentiate CFTR Cl channel
what colour is sputum in ABPA infection
how do you treat ABPA
steroids and intraconozole/voriconozole
when is a sweat test positive
75mg sweat, >60mmol Cl (<40 = normal)
Reasons for false positive sweat test?
adrenal insufficiencyhypothyroidhypoparathyroidglycogen storage diseaseMPSG6PDDiabetes InsipidusKlinefelters
what are classes of CF defects
decreased synthesis defective protein (delta F508)defective regulation (G551D)defective conductionReduced quantityIncreased death
how does Ataluren work
allows ribosomal read through in mRNA - works for nonsense mutations in CF
what is the best practice to prevent spread of RSV
what is palivizumab active against?
RSV R protein
what difference does Palivizumab make
decrease in hospitalisation by 50%. NO effect on need for ventilation or mortality
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
what bacteria most likely causes empyema/effusion
How should children at risk of TB with negative Mantoux test be managed?
isoniazid for 12 weeks and retest in 3 months
what are the side effects of isoniazid
hepatitis and peripheral neuropathy
what are the side effects rifampicin
haemolytic anaemia, thrombocytopenia
what is a side effect Ethambutol
optic neuritis (avoid <7YOA)
what is a side effect pyrazinamide
arthralgia, gout, hyperglycaemia
how many events per hour indicate OSA severity
1-5 events = mild5-10 events = moderate >10 = severe
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
what does maltose come from and become?
starch > maltose > glucose
what is the monosaccharide of glucose and galactose?
what are the disaccharides of sucrose?
glucose and fructose
what is the transported for fructose?
what is the glucose & galactose transporter?
what mechanisms are proteins absorbed
active sodium transport & facilitated diffusion
Features Pearson Syndrome
Mitochondrial myopathy pancreatic insufficiency anaemia ring sideroblasts
HLA subtypes for coeliac disease
HLA subtypes for Crohn's disease
HLADR3 & HLA DQ2
Best test in stool for IBD
How does allopurinol help with TPMT shunting?
inhibits xanthine oxidase pathway
what TPMT pathway helps with controlling disease?
6TG but can also cause myelosuppression
what are the kcal of fat, glucose and protein?
fat = 9 kcalprotein = 4 kcalglucose = 3.5 kcal
features re-feeding syndrome?
low phosphate, magnesium and potassium
how to calculate osmotic gap in diarrhoea
290 - 2 x (Na + Cl)<50 = secretory100 = osmotic
what can reduce duration and severity of diarrhoea?
Zinc 10mg /day 10-14 days
what kind of vaccine is Rotateq
age 2 years painless rectal bleeding or can present with intussusception (lead point)
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)
prevalence of cows milk intolerance ?
2% <2 yrs
options for treating cow's milk intolerance
1) extensively hydrolysed formulas - Peptijunior, Alfare2) Amino acid formulas - Electra, Neocate
congenital lactase deficiency features?
diarrhoea from birth hypercalcaemia and renal stones
what enzyme is deficient in Criggler Najar
glucaronyl transferase Type 2 - AD form has partial activity
what ANCA can be abnormal in alpha 1 antitrypsin
what malignancy is primary sclerosing cholangitis associated with?
hepatobiliary malignancy screen with Ca19-9
what is neonatal hepatitis characterised by
what causes breast milk jaundice
B- glucoronidase enzyme
Types of autoimmune hepatitis
type 1 anti-smooth muscle - reponsive steroidstype 2 antiLKM - associated APS-1 and less responsive steroidsNote: ALP normal
penecillamine / trientene low copper diet (liver, nuts, shellfish, chocolate)zincplasmapharesis
what kind of virus is HBV
which Hep C genotype has best response to therapy
what is recurrence rate of neonatal haemochromatosis
90% (decreased with IVIG given from 18 weeks)
what is the mechanism of injury in neonatal haemochromatosis
complement mediated injury
what is rituximab
how does sirolimus work
inhibits IL-2 by action on mTOR pathway
How does PFIC present?
pruritis, gallstones pale stools but not obstructive LFTs
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
how to calculate Positive likelihood ratio and negative likelihood ratio?
PPV = sensitivity / (100-specificity)NPV = (100-sensitivity) / specificity
How do you calculate relative risk
PPV / NPV RR >1 treatment increases risk of outcome RR <1 treatment decreases the risk of outcome
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)
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
polysaccharide conjugate vaccines
Hib, meningococcal, pneumococcal
protein subunit vaccines / recombinant
Hep B, influenza, pertussis, HPV
which vaccines are inactivated/killed
polio, Hep A, rabies, Rotateq
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
how can you improve internal validity
randomisation, blinding, intention to treat, appropriate comparator, published protocol
how can you improve external validity
multi-centre, wide inclusion, limit exclusion criteria, selection of patients, differences protocol to routine practice.
how do you reduce attrition bias
randominsation and intention to treat
what is the Cohen effect size
used in forrest plots <0.2 small0.5 mod 0.8 large
what is a case-control study?
retrospective, good for rare diseasessubject to recall bias and selection bias confounding
what is a cross-sectional study?
good for prevalence single time point
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
what drugs cause gynecomastia?
digoxin, spironolactone, cyclosporin
Digoxin side effects?
yellow vision and blurred vision
what is potential serious side effect of Vitamin A
what is the mechanism of action for beta-lactam antibiotics
time above MIC
what increases the action of theophylline
what will decrease the action of glucocorticoids
what drugs are renally cleared
metformin allopurinol lithium digoxin methotrexate
what is anticlockwise hysteresis
delay is distribution of the drug to site of action e.g. digoxin
what is clockwise hysteresis
tacchyphylaxis - initial dose has good effect but effect diminished with repeat dosing e.g. amphetamines
side effects carbamazepine
side effects sodium valproate
weight gainpancreatitis hepatic failure lamotrigine interaction teratogenic
side effects phenytoin
hissuitismgum hypertrophyserum sicknessosteoporosis
what drugs are at greatest risk of SJS
side effects vigabatrin
weight gain retinopathy, psychosis
side effects topiramate
renal stonesweight loss acidosisglaucoma
what is suggestive of PPHN
pre and post ductal difference >20%pre-ductal sats <90%
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%
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
What is the most important complication of BPD
what is artificial surfactant made of?
DPPC + SPB and SPC
indications of HIE and classification
mild - hypertonia, dilated pupils, tacchycardicmod - hypotonia, constricted pupils, seizures severe - comatose, no reflexes
indications for cooling
acidosis pH 35/40 within 6hrs of birth Cool 33.5 degrees 72hrs
outcomes of HIE
mild - nilmod - 5% mortality, 20% morbiditysevere - 75% mortality, 90+% morbidity
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
how do you calculate mean airway pressure?
(Pip x i-time) + (PeeP x e-time) / i-time + e-time
How can you calculate GIR
(dextrose % x IV rate) / (6 x weight) formula has dextose concentration of 7%