May 15th Flashcards
Phosphofructokinase-2 is upregulated by what? What is the product?
Upregulated by insuline; makes fructose-2,6-bisphosphate
Phosphofructokinase-1 is upregulated and inhibited by what?
Upregulated by fructose-2,6-bisphosphate; inhibited by ATP and citrate
What is the attack rate?
Ratio of number of individuals who become ill divided by the number of individuals who are at risk of contracting that illness
Elevated alpha fetoprotein levels is seen in what?
Multiple gestation, open neural tube defects, abdominal wall defects
What are the most common symptoms of NF-1?
Cafe-au-lait spots, multiple neurofibromas, Lisch nodules
What is in the inheritance pattern of NF-1?
Single-gene autosomal dominant on chromosome 17
What test differentiates Bernard-Soulier syndrome from vWF deficiency?
Both will have abnormal platelet aggregation to ristocetin; but when normal plasma is added, vWF disease is corrected
How is pyruvate dehydrogenase deficiency managed?
Ketogenic diet - high fat, low carbohydrate; lysine and leucine are exclusively keotgenic
What are the ketogenic amino acids?
Lysine and leucine
What are the symptoms of pyruvate dehydrogenase def?
Neurologic defects and lactic acidosis
What are three examples of antioxidant enzymes?
Superoxide dismutase; glutathione peroxidase, and catalase
What is the TATA box?
Promoter region that binds TFs and RNA pol II during the initiation of transcription; approximately 25 bps upstream
Ornithine transcarbamylase def. is characterized by what?
Hyperammonemia and elevated urinary orotic acid
Uridine monophosphate synthetase def results in decreased synthesis of what?
Pyrimidines
What are the characteristic findings in UMP Synthetase def?
Orotic acid buildup, but no hyperammonemia; megaloblastic anemia, not reversed with B12/Folate
What is a drug that can be used in HIT?
Argatroban
Brain tumor with pseudopalisading necrosis
GBM
Which hydatidiform mole is p57-positive?
Partial mole
What happens to peripheral resistance in response to epinephrine?
Decreases - due to beta > alpha effects
High fever for 3-5 days followed by an erythematous maculopapular rash; starts on truck and spreads to the face
HHV-6 roseola infantum
What is the most likely diagnosis of a Teenage boy with poorly developed secondary sexual characteristics and unable to distinguish smells? Pathology?
Kallmann syndrome; absence of GnRH secretory neurons in the hypothalamus due to defective migration from the olfactory placode
Alkaptunuria is a deficiency in what enzyme? This enzyme plays a role in what pathway?
Def in homogentisic acid dioxygenase; blocks conversion of tyrosine to fumarate
What pathogens are most often responsible for secondary bacterial pneumonia?
In order: S pneumo, S aureus and H influenzae
S3 heart sound is indicative of what? When is it heard? Murmurs?
Rapid ventricular filling; hear early diastole in mitral regurg; HF, and dilated ventricles
