6/4 Mixed Flashcards
Mullerian aplasia
Aka vaginal agenesis or Mayer-Rokitansky-Kuster Hauser (MRKH) syndrome
Variable uterine development with no upper vagina , primary amenorrhea, normal ovaries (secrete estrogen normally and enable regular development of secondary sexual characteristics
Topical capsaicin
Causes defunctionalization of afferent pain fibers and depletion of substance P
Initial application results in a burning and stinging sensation, but chronic exposure leads to reduced pain transmission
Androgenetic alopecia
The most common cause of hair loss in both males and females
The pattern and severity of the baldness depends on both hormonal (circulating androgens) and genetic factors and vary between males and females.
The condition is polygenic with variable expressivity.
Aortic stenosis murmur
Systolic ejection-type, crescendo-decrescendo murmur that starts after the first heart and typically ends before the A2 component of the second heart sound
The intensity of the murmur is proportional to the magnitude of the left ventricle to aorta pressure gradient during systole.
Rx: hyperaldosteronism (aldosterone secreting tumor, Conn’s Syndrome)
Aldosterone excess will cause hypertension, hypokalemia, metabolic alkalosis and depressed renin
Aldosterone antagonists such as spironolactone or eplerenone can be used as medical therapy for Conn’s syndrome
5-alpha reductase inhibitors
Finasteride, dutasteride
Block the conversion of testosterone to DHT in the prostate
These drugs reduce prostate volume in patients with benign prostatic hyperplasia and relieve the fixed component of bladder outlet obstruction
ACTH
Major trophic hormone of the zone FASCICULATA and RETICULARIS, whereas the zona glomerulosa is primarily regulated by agiotensin II
Prolonged ACTH stimulation causes HYPERPLASIA of the zona fasciculata and reticularis, resulting in excessive cortisol production
Primary hemochromatosis
HFE protein mutations are the most common cause
Decressed expression found to reduce endocytosis of the iron-transferrin complex
Inactivation of the HFE protein results in decreased hepcidin synthesis by hepatocytes and increased DMT1 expression by enterocytes, leading to iron overload
Patients with hemochromatosis are at an increased risk for liver cirrhosis and hepatocellular carcinoma
Pathogenesis of alcohol-induced hepatic steatosis
Decrease in free fatty acid oxidation secondary to excess NADH production by the 2 major alcohol metabolism enzymes, alcohol dehydrogenase and aldehyde dehydrogenase
Key growth factors that promote angiogenesis in neoplastic and granulation tissue
Vascular endothelial growth factor (VEGF)
Fibroblast growth factor
Ataxia telangiectasia
Cerebellar ataxia, telangiectasias, increased risk of sinopulmonary infections
AR inheritance, defect in the gene that codes for the ATM gene which plays a role in DNA break repair
The immune deficiency primarily manifests as an IgA deficiency and predisposes to infections of the upper and lower airways
Nucleolus
Site of ribosomal subunit maturation and assembly
RNA polymerase I synthesizes the vast majority of rRNA from within the nucleolus
Large nuclei contain prominent, round, basophilic bodies= nucleolus
Chronic Myelogenous Leukemia (CML)
Can have a similar presentation to leukemoid reaction
Leukocyte (neutrophil) alkaline phosphatase level is normal or elevated in a leukemoid reaction, decreased in CML
Dx of CML: Philadelphia chromosome t(9;22) or BCR-ABL fusion gene or mRNA
Thayer-Martin selective medium
Used to isolate Neisseria species from clinical cultures
Chocolate (heated blood) agar that contains vancomycin to inhibit growth of gram-positive organisms, colistin (polymyxin) to inhibit gram-negative bacteria, nystatin to inhibit the growth of fungi, and trimethoprim to inhibit the growth of gram-negative organisms other than Neisseria, such as the Proteus species
Vitamin A deficiency
Causes night blindness and hyperkeratosis
Deficiency of this fat-soluble vitamin can develop in patients with biliary disorders, exocrine pancreatic insufficiency, or intestinal malabsorption
Middle aged woman with generalized pruritis and vitamin A deficiency > likely has primary biliary cirrhosis (PBC), autoimmune disease, destruction of small bile ducts in liver (pruritus due to mild hyperbilirubinemia)
Hypothyroidism causes mypathy
Common cause of elevated creatine kinase (CK) due to hypothyroid myopathy
Can be the first manifestation of hypothyroidism
Fatigability, weight gain, myoedema (focal mounding of muscle following percussion), myalgia, proximal muscle weakness, cramping
Measure TSH in all patients with unexplained CK elevation
Biochemical abnormality in Alzheimers
Decreased acetylcholine levels in the hippocampus and nucleus basalis of Meynert (participates in memory and cognition. Diminished activity of choline acetyltransferase in these cerebral structures is the cause.
Ventromedial nucleus (VMN) of hypothalamus
Thought to be the center of satiety
Lesions of the VMN can results in hyperphagia and obesity
Cryptococcus neoformans
India ink staining of the CSF shows round or oval BUDDING YEAST
CREST syndrome/ systemic sclerosis
Pulmonary HTN develops in patients with systemic sclerosis as a result of damage to the pulmonary arterioles (intimal thickening of pulmonary arteries)
It manifests with an accentuated pulmonary component of the second heart sound and signs of right-sided heart failure due to cor pulmonale
High-frequency deep brain stimulation in Parkinson Disease
Nigrostriatal degeneration in PD reduces activity of the thalamus and its projections to the cortex, resulting in bradykinesia and rigidity
Patients with medically intractable symptoms of PD may benefit from high-frequency deep brain stimulation of the GLOBUS PALLIDUS INTERNUS or SUBTHALAMIC NUCLEUS as it promotes thalamo-cortical disinhibition with improved mobility
Mifepristone
Progesterone antagonist
Used with misoprostol (prostaglandin E1 agonist) to terminate a first trimester pregnancy
Number needed to harm = 1 / Attributable risk
[(a/(a+b)] - [c/(c+d)]
1/Atrributable risk
Thrombotic thrombocytopenic purpura
Results from impaired function of vWF cleaving protease, ADAMTS13, resulting in uncleaved vWF multimers that are significantly more prothrombotic and cause diffuse microvascular thrombosis, microa`ngiopathic hemolytic anemia, and thrombocytopenia
McCune-Albright Syndrome
Triad of fibrous dysplasia of the bone, endocrine abnormalities, and cafe-au lait spots
Results from an activating mutation in the G-protein/CAMP/AC signaling pathway
Musculocutaneous nerve
Innervates the major forearm flexors (biceps brachii, brachialis) and coracobradchialis (flexes and adducts the arm) and provides sensory innervation to the lateral forearm
It is derived from the upper trunk of the brachial plexus (C5-C7) and can be injured by trauma or strenuous upper extremity exercise
Polycythemia vera
Myeloproliferative disorder characterized by uncontrolled erythrocyte production
Virtually all patients have a mutation in JAK2, a non-receptor (cytoplasmic) tyrokine kinase associated with the erythropoietin receptor
Diabetic ketoacidosis
Urinary acid excretion occurs primarily in the form of NH4 and titratable acids (H2PO4)
In metabolic acidosis, urinary pH decreases due to increased excretion of free H, NH4, and H2PO4
Bicarb is completely reabsorbed from the tubular fluid in acidotic states
Graves’ ophthalmopathy
High-dose glucocorticoids such as prednisone are used to control severe Graves’ ophthalmopathy
They are helpful in decreasing the severity of inflammation and decreasing extraocular volume
Conventional anithyroid drugs do not improve ophthalmopathy
Direct arteriolar vasodilators (hydralazine and minoxidil)
Lower blood pressure but trigger reflex sympathetic activation and stimulate the renin-angiotensin aldosterone axis
This results in tachycardia and edema
To counteract such compensatory effects, these agents are often given in combination with sympatholytics and diuretics
Analysis of variance (ANOVA)
Used to determine whether there are any significant differences between the means of 2 or more independent groups
Pancreatic cancer
A palpable but nontender gallbladder (Courvoisier sign), weight loss, and obstructive jaundice (associated with pruritis, dark urine, and pale stools) are indicative of an adenocarcinoma at the head of the pancreas compressing the common bile duct
SMOKING is the most environmental important risk factor
Subclavian steal syndrome
Occurs due to severe stenosis of the proximal subclavian artery which leads to reversal in blood flow from the contralateral vertebral artery to the ipsilateral vertebral artery
Patients may have symptoms related to arm ischemia in the affected extremity (exercise induced fatigue, pain, paresthesias) or vertebrobasilar insufficiency (dizziness, vertigo)
The best method for determining whether a gene is being expressed
Analyze for the presence of its mRNA using a Northern blot
Type 2 DM
Due to insulin resistance and relative insulin deficiency
Chronically elevated free fatty acid levels contribute to insulin resistance by impairing insulin-dependent glucose uptake and increasing hepatic gluconeogenesis
Afib in chronic aortic stenosis
In patients with chronic aortic stenosis and concentric left ventricular hypertrophy, atrial contraction contributes significantly to left ventricular filling
Loss of atrial contraction due to afib can reduce left ventricular preload and CO sufficiently to cause systemic hypotension
Decreased forward filling of the left ventricle can also result in back up of blood in the left atrium and pulmonary veins, leads to acute pulmonary edema
Radial nerve injury
Can occur with repetitive pressure/trauma at the axilla (improperly fitted crutches)
Weakness of the forearm, hard, and finger extensors (wrist drop, absent triceps reflex) and sensory loss over the posterior arm and forearm, dorsolateral hand and dorsal thumb
More distal lesions spare the triceps brachii
Niacin
used to treat hyperlipidemia
Increases HDL levels and decreases LDL levels and triglycerides
Niacin causes cutaneous flushing, which is mediated by prostaglandins and can be diminished by pretreatment with aspirin
Amphotericin SE
Binds cholesterol to some degree, causing toxicity to human tissues (nephrotoxicity, hypokalemia, hypomagnesemia)
Renal artery stenosis (RAS)
Marked unilateral kidney atrophy
Occurs in elderly individuals due to atherosclerotic changes in the arterial intima or in women of childbearing age due to fibromuscular dysplasia
Hypertension and an abdominal bruit are often present
A moderately elevated alkaline phosphatase of unclear etiology should be followed up with
Y-glutamyl transpeptidase
Delusional disorder
Characterized by >1 delusion in the absence of other psychotic symptoms
Behavior is not obviously bizarre and functioning is not significantly impaired apart from the direct impact of the delusions
Renal angiomyolipoma
benign tumor composed of blood vessels, smooth muscle, and fat
Bilateral renal angiomyolipomas are associated with tuberous sclerosis, an AD condition, will also get subependymal hamartomas in the brain, cardiac rhabdomyomas, facial angiofibromas, leaf-shaped patches of skin lacking pigment (ash-leaf pathces)
Thromboangiitis obliterans (Buerger’s disease) is usually seen among heavy cigarette smokers with onset before age 35
Associated with hypersensitivity to intradermal injections of tobacco extracts
Segmental thrombosing vasculitis often extends into contiguous veins and nerves, encasing them in fibrous tissue
Class IA antiarrhythmics (quinidine, procainamine, disopyramide)
Sodium channel-blocking agents that depress phase 0 depolarization
They also prolong repolarization due to moderate potassium channel-blocking activity, increasing action potential duration in cardiac myocytes
Pure red cell aplasia
Rare form of marrow failure characterized by severe hypoplasia of marrow erythroid elements in the setting of normal granulopoiesis and thrombopoiesis
Pure red cell aplasia is associated with thymoma, lymphocytic leukemias, and parvovirus B19 infection
