Clinical Science Flashcards
Which Interleukin in sepsis ?
IL 1 ( Cowboy with Interlocked guns, escaping the cage)
IL1–hypotension and vasodilation.
IL 1 is seen in ?
Sepsis and inflammation—Triggering hypotension and vasodilation
Patient in sepsis. Now hypotension. Why hypotension ?
Due to IL1–Hypotension and vasodilation
Fabry’s disease is due to deficiency of ?
Alpha Galactosidase deficiency
IL-1 is released by which cell ?
Macrophage. ( Cowboy with Interlocked guns, escaping the cage—Macrophage)
Which receptor is involved in the pathophysiology of myasthenia gravis?
Nicotinic acetylcholine receptors
Congenital Toxoplasmosis clinical features :
Hydrocephalus( Mother washing baby’s head with water) + Cerebral Calcification ( Milk got spilled on baby’s Head ) + Chorioretinits( Baby is rubbing his eyes, as milk got spilled into his eyes )
Chorioretinits is seen in :
Congential toxoplasmosis
natural reservoir of toxoplasmosis
Cat feces ( cat pooped on the groom’s tuxedo—toxoplasmosis )
IL-8 - main functions include
Neutrophil Chemotaxis
( guard throwing Net(neutrophil) on escaping guard to recruit him back to jail( chemotaxis)
Which one of the following immunoglobulins are present in the lowest concentration in blood?
IgE—Plasma eels are the rarest types of eels
Young+ u/l Visual Loss + Prepapillary telangeictasia + Mother and grandmother affected.
Dx and Mode of inheritance :
Leber’s Optic Neuropathy
Inheritance : Mitochondrial
Eculizumab inhibits what ? And predisposes to which infection ?
Inhibits terminal complement activation (C5-C9)
C5-C9 deficiency predisposes to Neisseria meningitidis infections
Which collagen is defected in Good pasture ?
Collagen defect 4
Door(4) which has sickle
Which complement deficiency leads to SLE ?
C4
Androgen insensitivity syndrome Mode of inheritance ?
X linked Recessive
X linked recessive diseases:
Lady Harding Girls don’t care about Foolish wrods
Lesch Nyhan
Haemophilias
G6PD
Duchene Muscular Dystrophy
Colour Blindness
Agammaglobulinaemia
Androgen insensitivity Syndrome
Trimethoprim in breastfeeding ?
Considered safe
Main function of p53 :
Encodes protein which regulate cell cycle
Nitric oxide : ___ platelet aggregation
Inhibits platelet aggregation
vasodilation would dilate the blood vessel, allowing platelets to be spaced further apart and reducing the aggregation between them
Amiodarone in pregnancy ?
Not Safe
Asthma and epilepsy drugs in pregnancy ?
Safe
Which one of the following types of immunoglobulins are responsible for haemolytic blood transfusion reactions?
IgM
the receptor for the Ebstein-Barr virus?
CD 21
The general surgery department is trying to establish a best practice prophylactic antibiotic policy with regard to surgical site infections. To do so, they design a study, which examines whether a group of similarly matched patients (Group A) given antibiotic A develop a higher rate of post-operative surgical site infections when compared to a group (Group B) given antibiotic B. The proportion of patients in groups A and B developing surgical site infections are recorded.
What is the best test to determine if there is a statistically significant difference between the two groups?
Chi-squared test - used to compare proportions or percentages e.g. compares the percentage of patients who improved following two different interventions
ARDS patient— As a rescue therapy, the medical team decided to administer inhaled nitric oxide to improve his oxygenation.
What is the mechanism by which this medication improves oxygenation?
Pulmonary Vasodilation via increased Cyclic GMP
IgD is involved in:
The activation of B cells
Interferon Gamma is produced by :
Natural killer cells or T helper cells
Natural killer cells or T helper cells—Interferon Gamma—activated Macrophages —Produces IL 1 and IL8
Troponin C binds to
Calcium Ions
LBBB occurs due to damage of the left bundle branch and associated___
Purkinje Fibres
A prolonged QRS (>120ms) with a dominant S wave in V1 is suggestive
LBBB
A cardiology doctor undertakes a study to assess the impact of a piece of AI software which analyses ECGs in patients who present to the emergency department with chest pain. The AI software gives a score out of 5 for the probability that ECG changes are due to myocardial ischaemia. This data has non-normal distribution.
The cardiologist wants to analyse the data to see if there is a correlation between the patient’s pain scores and the AI scores for ischaemia.
What test of significance is most appropriate for analysing this specific aspect of the study?
Co relation of non parametric data:
Spearman’s
Peroxisomes are responsible for:
the catabolism of long chain fatty acids
DNA Maintainance
RNA Transcription
RNA Splicing
It takes place in Nuclues
Dermatitis herpitiformis is ass with which condition and its HLA ?
Coeliac’s disease
Dermatitis Herpetiformis is associated with HLA DR3
IgE is produced by ?
Plasma cells
( Mutant Plasma Eels—Eels: IgE
Anaphylactic reaction in patient , which cells are implicated ?
Anaphylaxis—Caused by IgE cells—
IgE is produced by Plasma cells
Which test are used to detect mutated oncogenes?
Polymerase Chain reaction
The occurrence of breast and ovarian cancer in multiple members of a family under the age of 45-years-old. Given the likely cause, what is the likely test that will be performed on the blood sample?
The occurrence of breast and ovarian cancer in multiple members of a family under the age of 45-years-old—BRCA 1 Mutation which is a mutated oncogene.
Test to detect mutated oncogene—Polymerase chain reaction
Behcets HLA and Chromosome ?
HLA—HLA B51 on chromosome 6
Behcet—5ehcet—Area 51, Behcet—6 letter—chromosome 6
parasitic helminth Infection, which cells are involved ?
Plasma cells
Which virus is associated with oropharyngeal cancer ?
HPV 16/18
HPV 16/18 association :
Cervical cancer
Anal cancer
Penile cancer
Vulval cancer
Oropharyngeal cancer
chromosomal abnormalities is detected by :
FISH
Fluorescence in situ hybridization
Angular chelitis is caused by which deficiency ?
Vitamin B2 ( Riboflavin—Rib flavoured sauce—Man with bee shoes ( B 2 ) eating food with rib flavoured sauce which has spilled on his mouth—Angular Chelitis )
Odds ratio formula :
Affeted / unaffected
Hereditary spherocytosis is transmitted via :
Autosomal Dominant manner
Noonan Syndrome is :
Autsomal Dominant
Which skin layer contains Melanocytes ?
Stratum Basale/ germinativum
Come lets get sun burned
Corneum
Lucidum
Granulosum
Spinosum
Basale
Which one of the following is the most common genetic cause of Prader-Willi syndrome?
Deletion of chromosome 15
Prader-Willi - paternal
leptin is produced by :
Adipose tissue
Higher level of leptin does what ?
Higher level decreases Appetite
Obese patients have higher or lower level of Leptin ?
Obese patients have higher level of leptin
More adipose tissue —more leptin
Where does leptin act ?
Acts on satiety centre—higher level of leptin decreases appetite
Which cells mediate hyperacute organ rejection?
B cells
Nicotinic acetylcholine receptor ?
ligand-gated ion channel receptor
Two groups of patients with gastro-oesophageal reflux disease are randomly allocated to receive treatment with peppermint oil or omeprazole for a four week period.
At the end of the four week trial period, each participant is asked to rate the effectiveness of their specific treatment on relieving their symptoms. The rating scale is from 1-5, where 1 indicates ‘very ineffective’ and 5 indicates ‘very effective’.
Given the data is not normally distributed, what statistical test should be used to determine if there is a statistically significant difference between the two treatments?
Man Whitney U test
His mother developed a flu-like illness during a pregnancy that was otherwise unremarkable.
Examination reveals sensorineural hearing loss and chorioretinitis.
A CT head is organized, which demonstrates scattered cerebral calcification bilaterally and hydrocephalus.
Congenital Toxoplasmosis
The P-value for the study is computed (0.02). What is the probability of obtaining a result by chance at least as extreme as the one actually observed, assuming the null hypothesis was true?
0.02=2%
P value definition :
P value - is the probability of obtaining a result by chance at least as extreme as the one that was actually observed, assuming that the null hypothesis is true
Oropharyngeal cancer is caused by which HPV ?
HPV 16
The patient has just gone to sleep and is easily rousable. You wonder if these were hypnagogic jerks.
Which stage of sleep ?
NREM Stage 1
A 42-year-old male patient presents to the GP surgery with a 6-months history of progressive weakness of both lower limbs. He complains of difficulty climbing stairs, lethargy and muscle loss in the lower limbs. He had a history of type 2 diabetes mellitus and admits to heavy alcohol use for the last 4 years. On examination, there is a marked loss of fine touch and proprioception in a stocking distribution bilaterally. There is no evidence of ataxia.
Dry beri beri—due to thiamine deficiency
This patient has a rapidly progressive polyneuropathy. Given the alcohol history, the most likely diagnosis from the options is dry beriberi, caused by thiamine deficiency.
Which cel organelle is involved in degradation of various intracellular proteins tagged with extensive ubiquitination?
Proteasome
Which supplementation can aid iron absorption from the gut by conversion of Fe3+ to Fe2+
Vitamin C—Ascorbic acid supplementation
What happens to pulmonary artery in hypoxia ?
Pulmonary artery vasoconstriction
In contrast to the systemic circulation, pulmonary arteries constrict in response to hypoxia, diverting blood away from poorly oxygenated lung regions.
The Cushing reflex is:
Hypertension + Bradcardia + Wide Pulse pressure
Fredrick’s ataxia Mode of inheritance :
Autosomal Recessive
T helper cells subset 2= TH2 subset produces :
IL4
TH1 = IL2, IL3
Which chromosomal disorder is most associated with Crohn’s ?
Turner’s syndrome
Myc is a tumour suppressor gene ?
No
Myc is a oncogene
Superiority trials require big or small sample size ?
Superiority trials require big sample size
Is duodenum retro peritoneal ?
Yes
During which of the following stages of mitosis does chromatin condense to form chromosomes?
Pro metaphase / Prophase
Which one of the following is the most important stimulator of the central chemoreceptors?
Fall in PH
Haldane effect :
Increase in Po2 means, co2 will bind less to Haemoglobin
Is recurrent stones a feature of homocytinuria ?
No
ocular features of homocytinuria :
Lens subluxation down
Myopia
DVT in Homocystinuria :
Yes
deficiency in homocystinuria ?
Cystathionine Beta Synthetase
RX in Homocytinuria ?
Pyridoxine
learning disability in Homocytinuria ?
yes
What does B blocker do to Renin ?
B blockers decreases secretion of renin
Beta-blockers work by blocking the effects of the hormone adrenaline, also known as epinephrine. They do this by binding to beta receptors on cells in the heart and blood vessels, which are the sites where adrenaline acts. This prevents adrenaline from causing an increase in heart rate, blood pressure, and renin secretion. Therefore, beta-blockers reduce the secretion of renin.
Which gene is affected in Achondroplasia ?
Fibroblast Growth Factor Receptor 3
(FGFR-3)
3 Fig trees—FGFR 3
Homogentisic acid is raised in which condition ?
Alkaptonuria ( Owl Captain)
Homogentisic Acid—Home Made Joint
Owl captain is making Home made joint
prior knee replacement + Joint pain + Bluish discolouration in Sclera, Skin and ears. Dx?
Alkaptonuria
Likelihood ratio for a positive test result:
sensitivity / (1 - specificity)
Left Ventricular Ejection Fraction :
(stroke volume / end diastolic LV volume ) * 100%
Stroke volume—End diastolic - End systolic
Which CA— in ovarian cancer ?
CA 125
Which phase phase determines cell cycle length?
G1 phase
p53 Functions :
plays a crucial role in the cell cycle, preventing entry into the S phase until DNA has been checked and repaired
Fabry’s Disease mode of inheritance ?
X linked recessive
Men with BRCA mutations have an increased risk of :
Breast
Prostrate cancer
Pancreas cancer
( Bp2)
B waves is seen in which sleep cycle stage ?
REM
BREM Stage.
Hoskins lymphoma is associated with which CD ?
CD 15
Vincristine acts on which stage of cell cycle ?
Metaphase stage
Micro tubule function :
Microtubules help guide movement during intracellular transport and also help bind internal organelles
Mitochondrial diseases are transmitted only via ?
They are transmitted only Via Mothers
Young + stroke + seizures + High lactic acidosis
MELAS
Mitochondiral disease , transmitted only via mothers
Alzheimer’s is associated with which chromosomal abnormalities ?
Associated with Down’s
Insulin binds to which receptors ?
Tyrosine kinase receptors
Tyres outside insulated chocolate factory
Most common renal stones :
Calcium Oxalate
Troponin T binds to
Tropomyosin
Tuberous sclerosis Mode of inheritance :
Autosomal Dominant
Congenital Adrenal Hyperplasia Mode of inheritance :
Autosomal Recessive
Nitric oxide , second messenger
Cyclic GMP
Western blot is used for :
Protein
SNOW (South - NOrth - West)
DROP (DNA - RNA - Protein)
Good pasture HLA ?
HLA DR2
A study is performed comparing two chemotherapy regimes for patients with small cell lung cancer. The end point of the study is survival time. Which one of the following types statistical measures is it most appropriate to compare survival time with?
Hazard ratio
Which obesity hormone increases hunger ?
Ghrelin
Which ear problem occurs in Rubella ?
SNHL
Atrial natriuretic peptide function :
Powerful vasodilator
Learning disabilities in Homocystinuria ?
Yes
Atrial natriuretic factor In an example of which receptor ?
Granylate cyclase receptor
Epinephrine/Adrenergic receptor is :
G coupled receptor
Down’s syndrome chances at age 30 :
1 in 1,000.
Down’s chances at age 45:
1 in 50
ITP is which type of reaction ?
Type 2 reaction
Sensor shoe (2) kicking the red ball so hard that it blasted off ( ITP)
Z.Glomerulosa produces :
Aldosterone.
GFR: ACD
Z.Glomerulosa—Aldosterone
Z.Fasisculata—Cortisol
Z. Reticularis—DHEA
Peripheral neuropathy is caused by which TB drugs ?
Isoniazid
The fastest conduction velocities in the heart are in the :
Purkinjee Fibres
Dual action of nitric oxide:
Vasodilate and inhibition of platelet aggregation
Phosphate is absorbed in which tubule ?
Absorbed in Proximal Tubule
Liposarcoma + Breast cancer, Dx?
Li Fraumeni Syndrome
Which part of the renal tubule is impermeable to water?
Thin Ascending loop of Henle
Immune cells bind to which part of antibody ?
Fc region
Cells—C—Fc region
Antigen binds to which part of the antibody ?
FAB region
During cell division, at what stage do sister chromatids move to opposite ends of the cell?
Anaphase
Prolactinoma Rx:
Cabergoline
Diabetic nephropathy histological findings:
Kimmelstiel-Wilson lesions, nodular glomerulosclerosis
Proteus infection related stone :
Struvite stones ( Ammonium Magnesium Phosphate )
Cardiac abnormalities of DiGeorge syndrome:
Truncus arteriosus and tetralogy of fallout
Left eye horizontal Diplopia , which Cranial Nerve is involved?
Left Cranial Nerve 6 is involved
Left Abducens nerve is involved—causing horizontal diplopia in left eye
cerebral oedema with brain tumours Rx?
Dexamethasone
Which HLA in Sjogren ?
HLA DR 3
Sjogr3n
Which HLA in Rheumatoid Arthritis ?
HLA DRB 1 and HLA DR 4
There is only one (HLA DRB 1) disease with a room( 4 walls—HLA DR 4 )
What leads to formation of granulomas ?
Natural killer cells/T cells—Interferron gamma—Macrophage—forms granuloma
Which clotting factors are involved in Vitamin K ? `
1972
10,9, 7, 2
Seizures + developmental delay + cherry red spot on macula + No Organomegaly :
Tay Sachs disease
Noonan Syndrome Karyotype ?
Normal
Mode of inheritance in Vitamin d resistant rickets:
Autosomal Dominant
Diagnosis of Vitamin D resistant rickets :
Increased urinary excretion of phosphate
X ray of vitamin D resistant rickets :
Cupped metaphysis
Rx of vitamin D resistant rickets :
High dose vitamin D supplements and oral phosphate supplements
calcium and phosphate levels in vitamin D resistant rickets :
Normal serum calcium + low phosphate + Elevated ALP
Adrenaline is released by :
Adrenal Medulla
Which one of the following cell organelles contains double-stranded circular DNA?
Mitochondria
Which foramen does the maxillary nerve go through?
Foramen Rotundrum
Ulnar nerve causes weakness of which eminence ?
Hypothenar eminence
genotype:phenotype correlation In mitochondrial condition ?
Poor.
This statement is true because mitochondrial diseases often exhibit poor genotype-phenotype correlation, meaning that the same genetic defect can result in a wide range of clinical manifestations.
Leiner disease is caused by which Complement deficiency ?
c5 deficiency
Li5 disease—Leiner disease
Where is the majority of iron found in the body?
Haemoglobin
What inhibits the release of endothelin ?
Nitric oxide
Prostacyclin
Interferon alpha is used in Rx of :
Hepatitis B
Hepatitis C
Kaposi Sarcoma
Metastatic renal cell carcinoma
Interfron Alpha does not treat :
Chronic Granulomatous disease
Testis size in fragile X ?
Large testis
Long ball shaped ear of donkey
Fragile X syndrome features ?
Long Facies + Large testis + Long elevated ears + Developmental delay
Which of the following findings would exclude giant cell arteritis?
Normal plasma viscosity
Viscosity, ESR and CRP are almost invariably raised in patients with active giant cell arteritis
Vitamin k MOA :
Vitamin K acts as a cofactor in the carboxylation of clotting factors (II, VII, IX, X)
Opthalmoplegia + ptosis + retinitis pigmentosa
Kearn Sayres Syndrome
Mitochondrial disease—only transmitted via mothers
How does Vitamin D increases serum calcium?
By primarily increasing its absorption from the small intestine
What is the relationship between standard deviation and variance?
Variance= square of SD
what cytokine plays a key role in the pathophysiology of still’s disease ?
macrophage activation syndrome
Interferon gamma activates Macrophages
The patient has had a significant upper gastrointestinal bleed as suggested by the clinical history, anaemia, and disproportionately raised urea. Which blood value will be increased ?
Reticulocytes will be increased.
In a bleeding patient with anaemia and a functioning bone marrow, then we would expect a compensatory reticulocytosis response.
Lung compliance in fibrosis ?
Decreased
Vivid dreams and kicking in which sleep cycle stage ?
REM Stage
bleeding gums + perifollicular petechial rash + spherocytes in blood film
Ascorbic acid deficiency—scurvy
Golgi apparatus function :
Adds mannose 6 phosphate to proteins — for trafficking to lysosome
Old manny ( Mannose) in his apartment with a stick (6) , has trafficked Columbian woman and sending them to LA ( Lysosome )
HLA in Psoriatic arthritis :
HLA B27
Surfactant is produced by :
Type 2 pneumocytes
Anti diuretic hormone site of action :
Collecting duct
Burkitt’s Lymphoma oncogene ?
C-Myc
RNA splicing takes place in :
Nucleus
Endothelin causes :
Pulmonary constriction
Persistent hoarseness , not relieved by any factor. Suspected diagnosis and cause ?
Oropharyngeal cancer
Due to HPV 16/18
Glucose is absorbed in which tubule ?
Proximal Convoluted Tubule
Adrenaline acts on which receptor ?
Adrenaline acts on G receptors
If you can administer Adrenaline in emergency, you are a top G
Troponin 1 binds to :
Actin
A 45-year-old man attends your clinic. He is concerned as his father has just been diagnosed with Huntington’s disease. He is aware that this is a genetic condition and wants to be tested. He also wants more information about the likely course of the condition. You explain that, if he tests positive, he will likely develop symptoms earlier than his father did.
What aspect of the condition gives rise to this phenomenon?
Anticipation
Anticipation in trinucleotide repeat disorders = earlier onset in successive generations
A decision is made to start empagliflozin, due to its cardioprotective value in patients with heart failure with reduced ejection fraction.
What is the primary site of action for this new medication?
-Flozins are SGLT2 inhibitors
Sodium-Glucose co transport protein inhibitors.
Sodium-glucose cotransporter (SGLT2) proteins are responsible for the resorption of approximately 90% of filtered glucose.
Most of the glucose is re absord in proximal convoluted tubule.
So flozins , site of action is PXT
HLA DR2 is associated with :
Narcolepsy
Narcolepsy HLA ?
HLA DR2
Ph in Vomitting ?
Metabolic alkalosis
Scabies which Hypersensity ?
Type 4 Hypersensitivity reaction
the null hypothesis is accepted when it is false. Which error is this ?
type 2 error
Type 2 error is :
the null hypothesis is accepted when it is false
1-reject the truth
2-Accept the false
Shoulder abduction by :
Axillary nerve—which supplies deltoid muscle
Funnel Plots shows :
show publication bias in meta-analyses
Usual outcome of case control study is :
Odds ratio
Usual outcome of Cohort study is :
Relative risk
Protein is detected by :
Western Blotting
the commonest cause of Down’s syndrome:
Maternal Nondisjunction
Rapid Depolarisation is caused by ?
D-NA:
Rapid Depolarisation is caused by Rapid sodium influx
Eye signs in downs :
Epicanthal Folds + Brushfield spots( white spots in iris )
HIV uses which CD ?
CD 4
Which of the following is an oncogene for neuroblastoma?
N-Myc
Which dermatome in thumb and index fingers?
C6
Make a 6 with your left hand by touching the tip of the thumb & index finger together - C6
C7-middle finger
C8-Ring and little finger
which dermatome in middle finger ?
C7
Which dermatome in ring and little finger ?
C8
HLA antigens are encoded in which chromosome ?
Chromosome 6
Bosentan is :
Endothelin Antagonist
How does ADH promote water reabsorption ?
Antidiuretic hormone promotes water reabsorption by the insertion of aquaporin-2 channels
What shows glomerular origin of hematuria?
Dysmorphic red blood cells if found in urine sediment indicates a glomerular origin of hematuria
But, sometimes, when something is wrong with the filters in your kidneys (like if they get hurt or sick), red blood cells can sneak out into your pee. When they do, sometimes they don’t look like normal round red blood cells anymore. Instead, they get squished or bent in funny shapes—these are called dysmorphic red blood cells
H/o Metabolic disorders in family + Child—Massive Hepato Splenomegaly. Dx?
Gaucher’s Disease
Which causes metabolic alkalosis , Barter or Fanconi ?
Barter’s disease
Barter occurs in which age group ?
Neonates
Most common cardiovascular abnormalities in Turners :
Coarctation of aorta
Elevated LH and FSH and Low estrogen:
Turner
Horomone level in Turner :
Elevated LH, FSH and Low estrogen
short stature, primary amenorrhoea, delayed puberty, webbed neck,
Turner
Brushfield Spots are seen in :
Downs
All the hormones in Down’s syndrome :
Elevated Inhibin A ( No entry sign above on the shelf )
Elevated BHCG( Churizo above on shelf )
Low level of PAP A ( puppy at the bottom of shelf trying for churizo )
Low level of Estradiol ( stroller at the bottom of shelf )
Low level of Alpha feto protein.
Intelligence level in turner :
Normal
Most likely kidney issue in turner :
Horse hoe kidney
Gastroenteritis— Now : Urinalysis and microscopy reveals muddy brown granular casts.+ Raised urea and creatinine + failure to respond to fluids
Acute Tubular Necrosis
This patient has experienced a prolonged period of dehydration and pre-renal acute kidney injury (AKI) secondary to bacterial gastroenteritis. Hypovolaemia reduces glomerular perfusion and filtration rates, which over time causes renal cell hypoxia and necrosis of the renal tubular epithelium. This is the mechanism of renal injury in this case, but acute tubular necrosis (ATN) can arise from other means e.g. sepsis or nephrotoxic agents.
On going Pre renal AKI : failure to respond to fluids hypovolaemia is no longer the direct cause of renal injury, and that the dysfunction is now intrinsic to the renal parenchyma itself.
Glomerulonephritis : it is typically associated with proteinuria, haematuria or both, neither of which are displayed here.
Acute interstitial Nephritis : he classic triad of rash, fever and eosinophilia are all not present.
Desmopressin site of action :
Desmopressin-Synthetic ADH—Site of action : collecting ducts
Vitamin D on Phosphate levels :
Increases plasma phophate level
Which blood disorder is associated with turners?
Haemophilia
Leukotriens causes :
Bronchoconstriction
Which food contain best source of folic acid ?
Liver
Which one of the following is equivalent to the pre-test probability?
Prevalence of a condition.
The pre-test probability represents the probability of a patient having a condition before any diagnostic test is performed, and this is fundamentally the same as the prevalence of that condition in the relevant population. This relationship forms the basis of Bayesian analysis in clinical diagnosis.
Which one of the following occurs during reverse transcriptase polymerase chain reaction?
RNA is converted to DNA
What is the main advantage of non-inferiority trials when testing a new drug?
Small sample size is required
Failure to abduct shoulders. Which C is involved ?
C5
C6 function :
supplies thumb and index finger ( make 6 with thumb and index)
Biceps reflex—Elbow flexion and wrist extension
C7 function :
triceps reflex—elbow extension and wrist flexion
In older adults, the main factor that accounts for a large pulse pressure is
Reduced Aortic Compliance
Recurrent infection is caused by which complement deficiecny ?
C3
A young boy is diagnosed as having DiGeorge syndrome. Which one of the following infections is he most at risk from, secondary to his immune system dysfunction?
Crypto coccus
There is however some sensory loss over the middle finger and palm of the hand. Which nerve root is most likely to be affected by the impingement?
C7
Which phase of clinical trials see efficacy of the drug ?
2B
What is require to carry out PCR ?
Thermostable DNA Polymerase such as : TAQ polymerase
Bohr Effect :
Increase in Acidity (Pc02) , Means oxygen binds less well to Haemoglobin
Most common cardiac abnormality seen in Downs ?
Endocardial cushion defect
Which of the following is responsible for the early repolarisation phase of the myocardial action potential?
Efflux of potassium
Repolarisation always occurs due to efflux of potassium
Atrial natriuretic peptide is secreted by :
Right atrium
Heart condition in William syndrome :
Supra valvular aortic stenosis
Cognitive delay + very friendly and social + elfin like facies—Wide vermilion border + small spaced teeth + Flat Nasal Bridge. + Supravalvular aortic stenosis.
William syndrome
William syndrome
Cognitive delay + very friendly and social + elfin like facies—Wide vermilion border + small spaced teeth + Flat Nasal Bridge. + Supravalvular aortic stenosis.
Lead-time bias:
occurs when two tests for a disease are compared, the new test diagnoses the disease earlier, but there is no effect on the outcome of the disease
occurs when two tests for a disease are compared, the new test diagnoses the disease earlier, but there is no effect on the outcome of the disease
Lead-time bias:
Power :
the probability of (correctly) rejecting the null hypothesis when it is false
Pathophysiology of cholesterol formation :
Smooth muscle proliferation and migration from the tunica media into the intima is the last step in the formation of an atheroma
Tall, long fingered, downward lens dislocation, learning difficulties, DVT:
Homocytinuria
Lens dislocation in homocystinuria ?
Downward
Which cell disorder in Digeorge ?
T cell
He has plotted the studies on an axis with the treatment effect (odds ratio of in-hospital mortality due to COVID-19) on the horizontal axis and the standard error of the effect estimate on the vertical axis. What type of plot is this ?
Funnel Plot
A funnel plot is a meta-analytic plot with effect size (e.g. odds ratio) on the horizontal axis and a measure of the studies’ standard error on the vertical axis (which is linked to study size). A symmetrical funnel plot suggests a lack of publication bias. An asymmetric funnel plot may be due to effects including publication bias or study heterogeneity.
Statistical analysis using Fisher’s exact test results in a P value of 0.01.
How should this finding be interpreted?
0.01 is the probability of obtaining a result by chance at least as extreme as the one that was actually observed, assuming that the null hypothesis is true
HLA for Rheumatoid Arthritis :
HLA DR4
Symmetrical Arthorpathy + she has synovitis of the 2nd and 3rd metacarpophalangeal joints
MTP joints + Symmetrical arthropathy—Rheumatoid arthritis
Does the risk remain the same for each successive pregnancy in autosomal dominant inheritance ?
Yes
A 28-year-old female with a history of primary amenorrhoea and short stature is reviewed in clinic. On examination blood pressure in her right arm is 175/84 mmHg and 170/82 mmHg in her left. What is the most likely cause for her elevated blood pressure?
Coarctation of aorta in Turner’s syndrome
Where does growth hormone act directly and indirectly ?
Growth hormone acts directly on—Chondrocytes and Osteoblasts
Growth Hormone acts indirectly on—Insulin like growth factor
Which Type of hormone is growth hormone ?
Anabolic
Growth Hormone is secreted by :
Somatrotroph cells
Growth hormone acts on which receptor ?
acts on trasnmembrane receptor
Damage to radial nerve leads to :
Rist drop— Wrist drop
Co receptor for MHC Class 1 :
CD 8
Mowhawk killer ( MCH class 1 ) —breaking the gate(8) which has code (CD) with a weapon( interferon gamma weapon )
A 15-year-old girl presents with an urticarial rash, angioedema and wheezing. Her mother states that she has just come from her younger sister’s party where she had been helping to blow up balloons. What is the most likely diagnosis?
Latex allergy
Turners + Ejection systolic murmur , which cardiac abnormality ?
Bicuspid aortic valve
Coarctation of aorta— would have difference in BP in both arms/ radio femoral delay
Marfans symptoms + Learning disability. Dx?
Homocystinuria
Pulmonary surfactant - main constituent:
dipalmitoyl phosphatidylcholine (DPPC)
Origin of foam cells :
Macrophages
Hering-Bruer reflex:
Distention of lung causes slowing of respiratory rate
Anaphylaxis is which reaction ?
Type 1 Hypersensitivity reaction
A new antibody test is being researched to aid the early diagnosis of rheumatoid arthritis. It is found to have a specificity of 97%.
Which one of the following statements is correct?
97% of fit people will have negative test on the diagnostic test
primary immunodeficiency is a T-cell disorder?
Digeorge syndrome
gingivitis, non-healing ulcers, myalgia + convulsions. Which vitamin deficiency ?
Scurvy
Which enzyme deficiency in Fabry’s ?
Alpha Galactosidase A deficiency
Cleft palate + Hypocalcemia + interruption in aortic arch + which cell deficiency ?
Digeorge syndrome.
T cell deficiency
Primary amenorrhea + Short Stature. Dx?
Turner syndrome
the clinical geneticist explains that not all people who test positive for BRCA1 or BRCA2 gene mutations go on to develop breast cancer.
Which of the following best explains this phenomenon?
Penetrance
Where is G protein located ?
Located in cell membrane
Turner’s Karyotype ?
45 XO
Alport Mode of inheritance ?
X linked Dominant
Which one of the following best describes the characteristics of a negatively skewed distribution?
Mean < Median < Mode
Skewed distributions
alphabetical order: mean - median - mode
‘>’ for positive, ‘<’ for negative
Positive skewed distribution :
Mean > Median > Mode.
Skewed distributions
alphabetical order: mean - median - mode
‘>’ for positive, ‘<’ for negative
Following the application of a plaster cast patients should wait__ hours before short flights (< 2 hours) and __hours before longer flights.
24 and 48
Breakdown of Oligopeptides
Lysosomes.
Loligopeptides
Which of the following adverse effects are most likely to occur when patients are treated with interferon-alpha?
Depression and Flue like symptoms
Main action of PCR :
DNA amplification
Occulomotor nerve enters from ?
Superior orbital fissure
Super orbit 3D—Movie title
A 68-year-old man is admitted with haematemesis. A gastroscopy performed as an inpatient shows a carcinoma which is confirmed on biopsy. Who is the most appropriate person to inform the patient of the diagnosis?
Consultant in charge
Mean=median=mode occurs where ?
Normal distribution
You are caring for a local cardiology consultant’s father who has been admitted following a myocardial infarction. He bleeps you from the switchboard and asks how his father is doing. You recognise his voice on the phone. What is the most appropriate response?
:
Ask permission from father and then give relevant details
You are a ST1 doctor in general medicine. A 19-year-old female who has type 1 diabetes mellitus is admitted with her fourth episode of diabetic ketoacidosis in the past two months. You suspect she runs her sugars high to keep her weight down. She is generally non-compliant and often self-discharges after 24 hours. What is the most appropriate response?
After ward rounds, have a chat with her regarding why her control is so bad
You are a ST1 doctor in medicine. Whilst on-call you review a 60-year-old woman who is known to have COPD. She has been admitted with an infective exacerbation and has not responded to nebulisers and intravenous aminophylline. Her most recent blood gases show a worsening respiratory acidosis. You feel that non-invasive ventilation (NIV) is needed and bleep the on-call physio. After discussing the blood gas results over the phone she says that NIV is not indicated in her opinion and refuses to set it up. What is the most appropriate action?
As there is a disagreement in treatment plan, discuss it with the on call consultant
Majority of surfactant is :
Type 2 pneumocytes
Immune complex disorder is caused by which complement ?
C1q,C2,C4 deficiency
Which amenrorhhea is associated with Turner’s ?
Secondary
Which of the following is responsible for the plateau phase of the myocardial action potential?
Slow influx of calcium
What is elevated in HIV?
B2 Microglobulin levels.
They correlate well with the disease progression.
Which disease cause increase in lung compliance ?
Emphysema
does phyenylketonuria cause recurrent infection ?
No
Phenylketonuria features ?
Autsomal recessive (small bath cart)+ Learning disability (turtle designed curtain)+ Musty odour ( from urinal)+ eczema( red skin due to hot shower ) + seizures( shaking bath cart )
Which cell cycle determine the length of cell cycle ?
G1
Apart from bicuspid aortic valve and coarctation of aorta , what cardiac abnormality is seen in turners ?
Aortic dilatation and dissection
Angiokeratomas + cloudy cornea. Dx?
Fabry’s
Burning sensation of hand and feet + Proteinuria + Angiokeratomas. Dx?
Fabry’s
Stroke + angiokeratomas
Fabry’s
Does stroke and Mi occur in fabry’s ?
yes
Developmental delay + cherry red spot macula + No organomegaly
Tay Sachs.
Tay Sachs , lacks organ
Neimen Pick , Picks organ—Organomegaly.
Mutation which results in Stop Codon :
Nonsense mutation
Define power
the probability of (correctly) rejecting the null hypothesis when it is false. It is the probability of not making a type II error.
Wernicke’s underlying pathology :
Decreased activity of thiamine-dependent enzymes impairing glucose metabolism
What effect does meta analysis have on power and P value :
Meta analysis increases power.
Meta analysis decreases P values.
y combining a lot of data, they are able to get more information, which often leads to stronger evidence. Less likely due to chance—less P value
The trial is investigating the golgi apparatus and it’s role in the trafficking of proteins to lysosomes. Researchers hope to adapt the molecules bound to proteins in an attempt to manage the disorder.
What molecule is responsible for binding and trafficking?
Mannose-6-phosphate.
6=Sex trafficking
A 14-year-old girl is admitted to hospital following a ruptured ectopic pregnancy. She comes from a family of Jehovah’s Witnesses. Her haemoglobin on admission is 6.9 g/dl. She consents to a blood transfusion but her mother refuses. What is the most appropriate course of action?
Give the blood transfusion
Whilst reviewing a patient’s drug card you notice that you prescribed the wrong dose of atenolol when the patient was initially clerked. Instead of 25mg atenolol od you prescribed 50mg atenolol od. She has received the incorrect dose on two occasions. On examining Mrs Smith you note her blood pressure and pulse are normal. Mrs Smith has a past history of anxiety and describes herself as a ‘worrier’. What is the most appropriate action?
Apologise to patient, and complete the incident form,
In this scenario the patient appears to have come to no harm following the error. This should not however change your approach to the situation. The patient should be informed of what has happened, an apology should be made and reassurance give that there appears to be no ill effects. By completing a clinical incident form you add to a body of data which may in the long term change to practice.
You are a ST1 doctor in General Medicine. During an on-call you are in A&E seeing a patient who has a pneumothorax. On arriving you find the A&E ST2 doctor attempting to perform an aspiration. He appears to about to insert the needle at the wrong landmark. What is the most appropriate action?
Immediately voice your concerns and ask him to stop
You are a ST1 doctor on a gastroenterology ward. The F2 doctor has asked you to supervise him putting in an ascitic drain for a patient with liver cirrhosis. He is keen to get it signed off for his portfolio. He has never seen one put in before but has read around the subject. What is the most appropriate action?
in this scenario the F2 doctor has never seen one previously so it is not appropriate for him to insert the drain today. The best option is for him to watch you.
You are a ST1 doctor in medicine. A 67-year-old man has been investigated for anaemia and weight loss. Endoscopy shows a gastric tumour which is confirmed as an adenocarcinoma on biopsy. On discussing the diagnosis the patient states that he has had ‘a good life’ and doesn’t want any treatment. Clinical examination is unremarkable. He is able to retain and understand the information you give to him, including the likely curative nature of surgery. What is the most appropriate action?
Respect his wishes and follow up appointment for 4 weeks
Which of the following cell types is most implicated in the development of coronary artery plaques?
Macrophages
A 77-year-old woman who lives alone is assessed. She has a history of Alzheimer’s disease. Her neighbours are increasingly concerned about her behaviour - they often see her wandering around outside in an apparently confused state. You feel she may need a care package or residential care but she refuses to countenance such a proposal. What is the most appropriate legal framework to use to approach this issue?
Mental capacity act
Mitosis takes place in which phase of cell cycle ?
It takes place in M phase
Pain at the back of right knee+sudden in onset+ Swelling of calf + Ddimer- Normal + H/O Osteoarthritis
Ruptured popliteal cyst
Sudden onset of pain, particularly when this is associated first with symptoms behind the knee, and calf swelling, is very suspicious of an underlying ruptured popliteal cyst. The fact she is awaiting a right total knee replacement also suggests significant osteoarthritis of the knee, which predisposes to the condition.
Ddimer- Normal, therefore not DVT
You are a ST1 doctor in medicine doing a nightshift. An elderly patient with colorectal cancer has been admitted to the Emergency Department with suspected bowel obstruction. The Emergency Department F2 doctor has tried to refer the patient to the surgeons but was told that as no surgical intervention is likely the patient should be admitted to the medics. The F2 doctor therefore phones yourself and asks you to accept the patient. What is the most appropriate response
Go down to the emergency department and review the patient
K/c/o of CA breast + Now Headache , not relieved by analgesia
Cerebral Mets
Ix: MRI with contrast
Example of nonsense mutation
Duchene Mucular Dystrophy
One of your colleagues confides in you that he has just been diagnosed with hepatitis B. He has not told anyone else as he is worried he may lose his job. He is currently working as a general surgeon in the local hospital. You try to persuade him to inform occupational health but he refuses. What is the most appropriate action?
Inform your colleague’s employing body
Maximum mortality in turners is due to :
Thoracic aortic aneurysm.
Or Premature cardiovascular death
Dubin Johnson’s Mode of inheritance :
Autosomal Recessive
gene defect in alport :
COL4 A5 gene—which encodes for type 4 collagen
Wilsons pathology:
ATP7B gene defect—Impaired copper excretion—accumulation of copper in body
17 year old—heavy bleeding from gums—investigation for bleeding Disorder which affects both male and female.
Bleeding disorder which affects both male and female—VWD
Haemophilia only affects male.
Chromosome in VWD ?
Chromosome 12
Murmur in Marfan’s :
Early Diastolic Murmur
D/t : Aortic regurgitation, Aortic dilatation, Aortic dissection.
15 year old girl will dilate (Aortic dilation/regurgitation) her chut with bday sex
Xeroderma pigmentosum has high risk of cancer due to :
Nucleotide excision repair
spleen in Sickle cell :
Hyposplenism
Mode of inheritance in BRCA mutation :
Autosomal Dominant
Cause of mortality in Duchene muscular dystrophy :
Cardiomyopathy
RET oncogene causes :
Medullary thyroid carcinoma
Mutation in mitochondrial DNA :
Leads to abnormalities in energy metabolism
Hyper mobile joints + minor dermat manifestation
Hyper mobile Ehler Danlos
Severe dermat manifestation + high elasticity in skin + hyper mobile joints
Classic Ehler Danlos
Diagnostic test for Myotonic Dystrophy :
Genetic testing —To look for CTG repeats
Familial Dysbetalipoproteinemia Rx :
Fibrates and statin
Ataxia + B/L SNHL + Retinitis pigmentosa + Insulin Dependant DM+ Complete Heart Block. Dx?
Kearn Sayre syndromee
restrictive eye movement + retinitis pigmentosa. Think :
Kearn Sayre Syndrome
Differentiate hungtinton’s and Wilson’s:
Hungtinton’s : Onset- 30-40 + choreoform movement( dance linke )
Wilsons—Young onset(20s) + Parkinsonism + hepatic dysfunction + KF ring
Mild haemophilia ( 5% ) Rx?
Give Desmopressin (DDVAP) in mild haemophilia
What separates Strands of DNA in Replication ?
Helicase.
Helicase function :
Separates strands of DNA in replication
Which disease is characterised by genomic imprinting ?
Prader willi syndrome
Prader willi symptoms :
Weight gain + hyperflexibilty + Learning Disability
Severe burning in hand and feet after exercise + recent h/o stroke + family H/o renal failure
Fabrys
Familial Hypercholestrolaemia :
Autosomal dominant + Elevated cholesterol , mainly LDL + Xanthomas + H/o premature Cardiovascular death in family.
Father died in early 30s due to MI: Dx?
Familial Hypercholestrolaemia.
Gaucher’s disease is due to :
Accumulation of glucocerbroside
OC pills taken + Central Abdomen Pain + Weakness of legs.
AIP
recent renal transplant + Acute onset Headache
ADPKD
Allele is :
One form of gene
Mutation in Marfan’s
Fibriln 1 gene mutation
Most common cardiac manifestation in NOONAN’s ?
Pulmonary Stenosis
KRAS Gene Mutation :
Pancreatic Cancer + Icthyosis
Pancreatic Cancer + Icthyosis
KRAS gene Mutation
Mode of inheritance in prader willi :
Non Mendelian( genomic imprinting)
Askanazi Jew + Pancytopenia + Bone pain + Hepatospelnomegaly
Gaucher’s disease
