Flashcards in March 28 Deck (54):
What is the karyotype of a complete hydatidiform mole and what are its components?
46, XX or 46, XY
Completely consisting of paternal DNA--Results when 2 sperm fertilize an empty egg
--No fetal parts
What enzyme is deficient in McArdle disease (type V Glycogen storage disease), which presents with painful muscle cramps and myoglobinuria?
Skeletal muscle glycogen phosphorylase--Myophosphorylase
What enzyme is a rate-determining enzyme in renal gluconeogenesis?
What is involved in smooth muscle contraction that is not in skeletal muscle contraction?
Phosphorylation of myosin occurs with smooth muscle
Small cell lung carcinoma is associated with what paraneoplastic syndromes?
Lambert-Eaton myasthenic syndrome--Antibodies against presynaptic Ca channels
What is the cause of the cardiotoxicity seen with Doxorubicin?
Generation of free radicals
What genetic abnormality is associated with sickle cell anemia?
Substitution of valine for glutamic acid in 6th position of B-globin chain
What malignant ovarian neoplasm is indicated by postmenopausal bleeding in women in 50s and what is shown histologically?
Granulosa cell tumor--estrogen producing tumor
Histo--Call-Exner bodies--granulosa cells arranged haphazardly around collections of eosinophilic fluid
--resemble primordial follicles
What chromosomes are BRCA1/BRCA2 genes found?
17 and 13 respectively
What disease is characterized by eczematous lesions of nipple/areola with large halo-like cells on histo and what underlying malignancy is almost always present?
Paget disease of breast--with underlying ductal carcinoma
Gram-positive cocci with no hemolysis on sheeps blood agar?
Isolated cleft palate presents with problems with breastfeeding and choking and coughing. What is the cause of this isolated abnormality?
Failure of palatine processes to fuse
The 5 examples of passive immunization after exposure?
To Be Healed Very Rapidly
Damage to what nerve impairs pts ability to stand from sitting position, prevents pt from ascending stairs or being able to jump and what is the most common cause of this in elderly pts?
Inferior gluteal nerve--which innervates the gluteus maximus
Posterior hip dislocation
What is seen on microscopy of pt with Crohn disease?
Noncaseating granulomas and lymphoid aggregates
What disc level is involved when pt presents with weakness of plantar flexion, difficulty in toe-walking, and decreased Achilles reflex?
What disc level is involved when pt presents with weakness of dorsiflexion, difficulty in heel-walking?
What disc level is involved when pt presents with weakness of knee extension and decreased patellar reflex?
What does a lower Km and Vmax indicate?
Lower Km--increased affinity
Lower Vmax--lower capacity
What enzyme is deficient in Fabry disease which presents with triad of episodic peripheral neuropathy, angiokeratomas and hypohidrosis and leads to renal failure and CVD? What substrate accumulates?
a-galactosidase A is deficient
Ceramide trihexoside accumulates
What causes rise in temperature shortly after ovulation?
Progesterone released from the corpus luteum
What does the Achilles reflex test?
How does prolactin prevent ovulation?
By inhibiting the secretion of gonadotropin-releasing hormone (GnRH) from the hypothalamus
--leads to decreases in LH and FSH from the anterior pituitary
What disease presents with cola-colored urine in the morning due to increased hemosiderin in the urine and what is the cause of this disease?
Paroxysmal nocturnal hemoglobinuria--caused by increased complement-mediated intravascular RBC lysis--mutation in PIG-A GPI anchor
What protein is involved in axonal transport of vesicles?
Tubulin (a+B) --dynein (+--> -) and kinesin (- --> +)
What is cytokeratin a marker for?
Expressed by cells of epithelial origin and is used for screening of adenocarcinoma of the GI/GU
Alcoholic presents with hypoglycemia--what is causing this?
Increased NADH:NAD+ ratio by ETOH metabolism --diverting pyruvate to lactate and oxaloacetate to malate which inhibits gluconeogenesis by the liver--causing hypoglycemia
What disease is caused by failure of DNA repair of thymidine dimers and increases photosensitivity of the skin?
Nitroprusside toxicity causes a build up to ______ causing inhibition of _______.
Mitochondrial cytochrome oxidase in the ETC
Pts with HLA-DR5 are at an increased risk of developing what 2 autoimmune diseases?
What is the tx for narcolepsy?
Sodium oxybate--for nighttime
What is the most important prognostic factor in a pt with tetrology of fallot?
Degree of pulmonary stenosis
What is seen on EM of pt with acute poststrep GN?
Subepithelial immune complex (IC) humps
What disease produces a hyper coagulable state that can lead to DVT/PE?
Factor V Leiden --production of mutant factor V that is resistant to degradation by activated protein C
Can also lead to cerebral vein thromboses and recurrent pregnancy loss
E. coli can uses glucose for metabolism, but when glucose is low and lactose is present what occurs in order for E. coli to used lactose instead of glucose?
Lactose stimulates the lac operon and allolactose acts as a inducer by binding to and inactivating the repressor
Since the repressor is inactive--increased cAMP can bind the lac operon and allow for lactose metabolism
What 2 clotting factors are inactivated by proteins C and S?
Va and VIIIa
Rheumatic heart disease causes what cardiac abnormality and what type of murmur is heard?
Mitral stenosis -- delayed rumbling late diastolic murmur heard best at apex
Drainage of liver into systemic circulation occurs through the ______.
Hepatic vein then into IVC
(Portal vein drains GI into liver)
What enzyme is affected with lead poisoning?
aminolevulinic acid dehydratase --its inhibited leading to accusation of protoporphyrin and d-ALA
What is deficient in thrombotic thrombocytopenic purpura, which presents with pentad of neurologic and renal symptoms, fever, thrombocytopenia, and microangiopathic hemolytic anemia?
What 2 Vasculitides are associated with increased ESR?
-Giant cell (temporal) arteritis
What is the antidote for benzo toxicity and what is its MOA?
Flumazenil---competitive inhibitor at GABA-A benzo receptor
What does a selective COX-2 inhibitor (Celecoxib) selectively inhibit?
Prostacyclin--PGI2--decreases platelet aggregation
What do pt with SLE often have a false positive for?
False positive VDRL
Pemphigus vulgaris involves ______ antibodies against _____.
IgG--desmoglein (component of desmosomes also called macula adherens
How is kidney clearance calculated?
What lab values are seen with secondary hyperparathyroidism caused by renal disease?
Increased intracranial pressure in a newborn post group B strep infection meningitis that has healed is most likely caused by?
Communicating hydrocephalus--decreased absorption of CSF by the arachnoid villi caused by scarring from the infection
What does an increased temperature during exercise do to the O2 dissociation curve?
Shifts it to the right causing decreased affinity of Hb for O2 allowing for increased unloading of O2 to muscle
I-cell disease results in coarse facial features, clouded corneas, restricted joint movement, and high plasma levels of lysosomal enzymes. What is defected in this disorder?
Inherited lysosomal storage disorder--with defect in N-acetylglucosaminyl-1-phosphotransferase---resulting in failure of golgi to phosphorylate mannose residues at cis golgi
Inclusion bodies are seen in cytoplasm of cells
When are fetuses extremely susceptible to teratogens?
Long term antipsychotic use can result in _____ caused by antagonism of ____ pathway?
EPS symptoms --caused by antagonism of D2-dopamine receptors
What cell type does EBV attack and through what receptor?
B cells--through CD 21 receptor
(B cells express CD 19, 20, and 21)