Clinical Sciences Flashcards
Genetic predisposition of coeliac
95% patients have HLA DQ2 or 8
Tissue transglutaminase acts on alpha gliadin -> generates epitopes to CD4 T cells -> intestinal wall inflammation
If untreated CD4 t cells make IFN g in intestinal wall
Is clexane monitored in pregnancy
No
Cardiac defect seen in trisomy 21
ASD seen in Down’s
Huntington’s inheritance
AD
What does a specificity of 90% mean?
if 100 people without disease, 90 will test negative, 10 will test positive
Sensitivity vs specificity
Sensitivity = SPIN
(Specific test, POSITIVE rules IN the disease)
Specificity = SNOUT
(Sensitive test when Negative rules OUT the disease)
How do you calculate specificity
TN / TN+FP
ADH
Where is it made and released?
Nonapeptide
made in hypothalamus, Released from posterior pituitary
ADH
MOA?
Acts on CD, increases water permeability and water retention
ADH
What drugs increase and decrease release?
Carbamazepine, thiazides, SSRIs increase ADH release
Ethanol usually inhibits release
superior pancreaticoduodenal artery
Branches off?
Supplies?
S P-D A
branch of the gastroduodenal artery
supplies the head of the pancreas + upper duodenum
right hepatic artery supplies
supplies the right lobe of the liver and part of the caudate lobe
right gastric artery supplies
supply the pylorus and the lesser curvature of the stomach
right and left gastroepiploic arteries
supply the greater curvature of the stomach
hyperkalaemia due to reduced renal excretion caused by
acidosis rhabdomyolysis tumour lysis malignant hyperthermia, and burns. Drugs that cause hyperkalaemia include:
AKI
Type 4 RTA
Addison’s
Cellular causes of hyperkalaemia
acidosis
rhabdomyolysis
lumour lysis
malignant hyperthermia and burns
Drugs causing hyperkalaemia
K-sparing diuretics
ACEi
NSAIDs
CYCLOSPORIN
BB
Progressive massive fibrosis associated with which lung condition?
complicated silicosis
Cyanide MOA
inhibition of the enzyme cytochrome oxidase c
interferes with the basic process of cellular respiration, preventing the formation of ATP and causing rapid cell death
Sarin gas MOA
inhibition of the enzyme acetylcholinesterase
causing acetylcholine to build up
causing prolonged sustained contraction of the diaphragm
Cystic fibrosis gene mutation
CFTR gene on chromosome 7
Cystic fibrosis gold standard Ix
Chloride concentration >60mmol/L
with sodium concentration lower than that of chloride on two separate occasions
Extrinsic Allergic Alveolitis/ farmers lung
What is it?
Typical feature O/E?
Common precipitins? Ix?
hypersensitivity pneumonitis (caused by immune response to inhaled allergens)
Basal crackles
Check for Abs to precipitins S rectivirgula and T vulgaris
thyroid hormone receptor
is what kind of receptor?
nuclear receptor
When T3 binds TH receptor, can bind genes and initiate transcription
Bronchial asthma
affected by which alleles
HLA alleles
G6PD deficiency inheritance
Who of children will have it if dad affected mum is not carrier?
X linked
NO ONE AFFECTED
male will pass on the X chromosome to any daughters, who will not be affected, as they will have a ‘good’ X from the mothers, and the father will pass on the Y chromosome to his sons, who will not be affected
Hereditary haemorrhagic telangiactasia inheritance
AD
Congenital adrenal hyperplasia inheritance
AR
cellular telomerase activity affects
The number of cell divisions a cell is capable of undergoing
MEN 1
3 P’s
Pituitary adenoma
Parathyroid
Pancreas (Gastrinoma)
MEN 2A
PPM
-
Parathyroid
Medullary Thyroid
Phaeochromocytoma
MEN 2B
MMMP
Mucosal neuromas
Medullary thyroid
Marfanoid body
Phaeo
Lesions of the frontal lobe cause
Expressive aphasia (receptive aphasias are due to a temporal lobe lesion)
Primitive reflexes
Perseveration (repeatedly asking the same question or performing the same task)
Anosmia, and
Changes in personality.
Lesions of the parietal lobe include:
Apraxias
Neglect
Astereognosis (unable to recognise an object by feeling it), and
Visual field defects (typically homonymous inferior quadrantanopia).
Lesions of the temporal lobe cause:
Wernicke’s (receptive) aphasia
Visual field defects (typically homonymous superior quadrantanopia)
Auditory agnosia, and
Memory impairment.
Occipital lobe lesions include:
Cortical blindness (blindness due to damage to the visual cortex and may present as Anton syndrome where there is blindness but the patient is unaware or denies blindness) Homonymous hemianopia, and Visual agnosia (seeing but not perceiving objects - it is different to neglect since in agnosia the objects are seen and followed but cannot be named)
ITP Abs are to
Majority ITP actually autoimmune
Abs to glycoproteins IIb-IIIa or Ib-IX (IgG) in 80% ITP
Soating of platelets with IgG -> phagocytosis by splenic macrophages.
Neurofibromatosis type 1 inheritance
AD
Chromosome 17
Neurofibromatosis type 1 inheritance
Chromosome 22
Cholecystokinin (CCK) is made in I cells of duodenum, jejunum and enteric nerves.
promotes gallbladder contraction and intestinal motility
increases secretion of pancreatic enzymes including insulin, glucagons, pancreatic polypeptides
role in satiety, and
short half life, less than three minutes, cleared by the kidneys.
Stimulus for secretion:
mixtures of polypeptides and amino acids especially phenylalanine and tryptophan stimulate release but undigested protein does not
gastric acid entering duodenum
fatty acids, especially in micelles
secretion inhibited by somatostatin.
inherited in a autosomal codominant manner with certain combinations resulting in alpha-1 antitrypsin deficiency.
homozygous SS or ZZ are those who are most likely to manifest clinical disease
tremor in parkinson’s vs essential tremor
PD - resting tremor
essential - postural tremor (on movement)
Rx Sickle Cell Crisis
Give O2 IV Fluids Analgesia Exchange transfusion if low Hb (get HbS to <30%) ABx if infection
40M
muscle weakness UL and LL
Cannot let go of someone’s hand after shaking it
Myotonic dystrophy
(muscle wasting + unable to relax muscles(myotonia))
Can affect heart/resp/GI muscles
Features myotonic dystrophy
Cataracts Ptosis Frontal baldness Gynaecomastia Diabetes Reduced reflexes + myotonia (can't relax)
Contraindication for BCG (live) vaccine
immunosuppressed e.g. steroids
Porphyria precipitants
Non drugs
Drugs
Non-drugs - stress, menstruation infection, pregnancy, starvation
Drugs - phenytoin, barbiturates, sulphonamides
24M haematuria proteinuria sensorineural deafness
alport syndrome
Alport syndrome mutation
Collagen IV gene
high triglycerides associated with what deficiency
lipoprotein lipase deficiency
Which intracellular structure has own self-replicating DNA?
mitochondria
Henoch Schonlein Purpura pathophysiology
Mesangial IgA deposits
Commonest cause of urticaria
Idiopathic (50%)
Also immune and non-immune
Which IL involved in anaphylaxis?
IL 4
IL 13
CD4 T cells
IgE