Za Uwarudo review cards Flashcards
<p>In addition to upregulating lipoprotein lipase, what other enzyme do fibrates inhibit? </p>
<p>Cholesterol 7 alpha-hydroxylase (rate limiting step in bile formation, which can potentially decrease bile secretion leading to cholesterol gallstones). </p>
<p>What affect do estrogens have on cholesterol synthesis? </p>
<p>They up-regulate HMG-CoA reductase, increasing cholesterol synthesis. </p>
<p>In the urea cycle, conversion of arginiosuccinate to arginine releases what?</p>
<p>Fumarate (tying the TCA cycle to the urea cycle)</p>
<p>What functions are folate derivatives crucial for? </p>
<p>Nucleic acid synthesis (particularly thymidine), conversion of homocysteine into methionine, and generation of S-adenosyl-methionine (SAM, for methylation reactions). </p>
<p>What amino acids are necessary for nucleic acid synthesis? </p>
<p>Glutamine, Aspartate, and Glycine (GAG)</p>
<p>What infection is associated with Classical Galactosemia? </p>
<p>E. coli sepsis. </p>
<p>When would Classical Galactosemia likely appear?</p>
<p>In the first few days of life (milk has lactose which contains galactose). Hereditary fructose intolerance would appear later when fructose containing foods are introduced. </p>
<p>What accounts for the splenomegaly seen in hemolytic anemia syndromes (Sickle cell, pyruvate kinase, spherocytosis, ect)?</p>
<p>Red pulp hyperplasia (increased activity of reticuloendothelial macrophages). </p>
<p>What process does acidosis stimulate in renal tubular cells? </p>
<p>Renal ammoniagenesis (glutamine in converted into glutamate, which is then converted into alpha-ketoglutarate, releasing NH3 into the urine to bind H+ making NH4+). </p>
<p>What is the major mechanism of renal acid secretion in chronic acidosis? </p>
<p>Renal ammoniagenesis. </p>
<p>A deficiency of what enzyme would present similarly to G6PD deficiency? </p>
<p>Glutathione reductase </p>
<p>What is the role of hormone sensitive lipase? </p>
<p>Initiates lipolysis in adipocytes in response to stress hormones (glucagon, catecholamines, ect) leading to release of free fatty acids and glycerol. Provides substrates for gluconeogenesis and ketogenesis in times of starvation. </p>
<p>What is Zellweger syndrome? </p>
<p>An inborn error of metabolism cause dby an absence of peroxisomes, leading to an inability to beta-oxidize very long chain fatty acids (VLCFA's). </p>
<p>Where can gene enhancers or silencers be located?</p>
<p>Anywhere upstream, downstream, or within introns of the transcribed gene. Bind activators/repressors that directly bind RNA polymerase II/transcription factors (which are directly bound to promotor) to enhance or silence transcription. </p>
<p>What is the probability that the sister of a male with an x-linked disease and normal parents is a carrier? </p>
<p>If the parents are normal then the mother is a carrier and the father has a normal X, which makes the probability of her being a carrier 50%. She then conversely has a 50% chance of passing on the affected X chromosome. </p>
<p>What is the inheritance pattern of mitochondrial disorders? </p>
<p>Mitochondrial disorders are exclusively inherited from one's mother (maternal inheritance). </p>
<p>What accounts for the variable expressiveness of mitochondrial disorders? </p>
<p>Heteroplasmy (mitochondria are randomly distributed among daughter cells after mitosis with some having more or less damaged mitochondrial DNA). </p>
<p>Do mitochondrial disorders preferentially affect males or females? </p>
<p>Mitochondrial disorders equally affect males and females. </p>
<p>What is the inheritance pattern of androgenic alopecia? </p>
<p>Polygeneic (i.e. multiple genes result in phenotype. Hypertension is another example). </p>
<p>What are some dysmorphic features of Down's?</p>
<p>Epicanthal folds, upslanting palpebral fissures, a protruding tongue, and excessive skin at the nape of the neck. </p>
<p>What is the sound ausculated with with a VSD (such as that found with Down's)?</p>
<p>A holosystolic murmur heard at the sternal border. </p>
<p>Does Down's present with hypotonia or hypertonia at birth? </p>
<p>Hypotonia and a weak startle/Moro's reflex (Edwards would have hypertonia). </p>
<p>How can the infertility of cystic fibrosis be differentiated from that of primary ciliary dyskinesia? </p>
<p>Cystic fibrosis has infertility due to an absence of the vas deferens (azoospermia) whole primary ciliary dyskinesia has infertility due to immobile sperm (the vas deferens are still patent). </p>
<p>What is the probability that an unaffected child (with unaffected parents) and a sibling with an autosomal recessive disease is a carrier for that disease? </p>
<p>2/3</p>
What is the name for a study where one group starts with a placebo, the other with the treatment, and then after a period of time the placebo and treatments are switched?
A crossover study.
What is a case series study?
A descriptive study that tracks patients with a known condition (e.g. exposure, risk factor, or disease) to document the natural history or response to treatment.
Would blood pressures being measured over one week count as a time-frame?
No, it simply means that it took a week to get a single measurement/data point. Bring this up because of a question asking about a cross-sectional study (i.e. a snapshot taken in the present to assess prevalence) and confused measuring BP over a week as a time-frame (which made me pick case control as an answer). It would only be a time frame if multiple measurements/data points were taken over time, and if there was a control and experimental group (this question only mentioned a randomized study population).
What is a cross-sectional study?
A study that looks at the frequency of a disease (prevalence) at a particular point in time (snapshot). Would not have a control and experimental group like a case control or cohort study would.
What statistical value is the most sensitive to an outlier?
The mean (i.e. a large outlier would change the mean. The mode is the most resistant since it is the most common value and thus would not be changed by an outlier).
What is the embryological defect in tetralogy of fallot?
Displacement of the infundibular septum due to abnormal neural crest cell migration. While the endocardial cushions (defects seen with Down's) are also neural crest abnormality of them would result in ostium primum ASD and AV valve malformations.
What is the issue with total anomalous pulmonary venous return (TAPVR)?
TAPVR is when the pulmonary vein drains into the SVC, resulting in both oxygenated and deoxygenated blood entering the right atrium.
What type of collagen is found in granulation tissue?
Type II collagen (reticular).
What type of collagen would be found in scarred myocardium months after an MI?
Type I collagen (also found in tendons, dermis, ect).
What course does the left lead of a biventricular pacemaker take?
It passes through the coronary sinus, which resides in the atrioventricular groove on the posterior aspect of the heart.
If a question asks to calculate the number of false negatives of a test, what value should be used?
The sensitivity is the measurement that deals with true positive (TP) and false negatives (FN). I.e. if the sensitivity was 75% (75% of people with disease test positive) and 200 patients out of 600 had a disease then the number of FN would be 25% of 200 (50).
If a question asks to calculate the number of false positives, what value should be used?
The specificity is the measurement that deals with true negatives (TN) and false positives (FP). I.e. if the specificity of a test was 80% (80% of people who don't have the disease test negative) and 200 out of 600 people had a disease, the number of false positives would be 20% of 400 (80).
What cardiac abnormality is Freidreich Ataxia associated with?
Hypertrophic cardiomyopathy.
What cardiac abnormality is tuberous sclerosis associated with?
Valvular obstruction from cardiac rhabdomyomas.
What is Pulsus Paradoxus (sharp decrease in BP upon inspiration) associated with?
Cardiac tamponade, asthma, and COPD.
What is Kussmaul's sign (elevated JVP upon inspiration) associated with?
Constrictive pericarditis and restrictive pericarditis.
What is loratadine?
A 2nd generation H1 antagonist (less anti-muscarinic effects and less sedation). Don't be confused by the suffix ("dine" is usually associated with H2 blockers).
The presence of what interval in the CI of a cohort or case control study would render the results statistically insignificant?
1
The presence of what interval in the CI for a mean difference between two variables would render the results statistically insignificant?
0
What disorders can present with pheochromocytoma?
MEN2A, MEN2B, Neurofibromatosis-1, Von-hippel lindau .
What will giving iodine (or iodine containing substance like amiodarone) to someone with a baseline hyperthyroid state (Grave's, toxic multinodular goiter) result in?
Jod-Basedow phenomenon (hyperthyroidism in the presence of increased iodine).
What will giving iodine (or a iodine containing substance like amiodarone) to someone with normal thyroid function result in?
Wollf-Chiakoff effect (hypothyroidism in the presence of increased iodine).
What is the typical progression of a thyroiditis?
Initially hyperthyroid (damaged follicles release thyroid hormone) but progresses to hypothyroidism (damaged follicles cannot synthesize more).
What is the only painful/tender thyroiditis?
Subacute/de Quervain/granulomatous thyroiditis.
What endocrine abnormality can result in atrial fibrillation?
Hyperthyroidism (check TSH levels in an afib patient).
What would be an example of a wide QRS complex SVT (SVT usually narrow complex, has to be distinguished from vtach)?
Afib in a WPW patient. Can be distinguished from Vtach by being irregularly irregular. Important because the usual afib drugs (b-blockers, Ca2+ blockers, adenosine, digoxin) cannot be used. Use procainamide or ibutilide instead.
What kinase inhibitor is used for melanoma?
Vemurafenib (inhibits BRAF kinase)
What is a potential consequence of Kawasaki's disease?
Coronary artery aneurysm (which can lead to myocardial ischemia).