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Biochemistry
FA review Round 2 2020
| Question | Answer |
|---|---|
| How is commonly Diabetes Insipidus (DI) diagnosed? | Failure to concentrate urine in response to water deprivation |
| What hormone is measured in DI in order to diagnose it? | ADH |
| What condition is usually diagnosed by measuring response and level of ADH? | Diabetes insipidus (DI) |
| Central or Nephrogenic DI. Low ADH? | Central DI |
| Central or Nephrogenic. Responds to Vasopressin? | Central DI |
| Central or Nephrogenic. High ADH? | Nephrogenic DI |
| Central or Nephrogenic. No respond to Vasopressin? | Nephrogenic DI |
| On which Vasopressin receptors does ADH work on? | V2-receptors |
| Which are involved in diagnose of DI, the V1 or V2 receptors? | V2-receptors |
| Which part of the nephron have V2-receptors? | Distal Convoluted tubule (DCT) and Collecting ducts |
| V2-receptors are located at the PCT or DCT? | DCT |
| What is the inhaled first line of treatment for Pseudomonas infections? | Tobramycin |
| Which inhaled medication is often used to treat Pseudomonas infections? | Tobramycin |
| Patients with Cystic Fibrosis, early develop infections by what agent? Later in life? | Early (young) ------ Staph aureus Late (older) -------- Pseudomonas species |
| What the key intermediate in the TCA cycle that inhibits Phosphofructokinase (PFK)? | Citrate |
| What is Citrate? | Key intermediate of the TCA cycle that inhibits PFK |
| What is another action of Citrate, not involving the TCA cylce? | Activation of Acetyl-CoA carboxylase, thus driving Fatty acid synthesis |
| Citrate is involved in Fatty acid synthesis or Degradation? | Fatty acid synthesis |
| Ethanol metabolism causes hyperglycemia or hypoglycemia? | Hypoglycemia |
| What substrate ratio is elevated in Ethanol metabolism? | NADH: NAD+ |
| An elevated NADH: NAD+ ratio will probably indicate what type of substance abuse? | Alcoholism |
| Relation between NAD+ and EtOH metabolism. | NAD+ is converted into NADH during Ethanol metabolism |
| What metabolic process is inhibited by an increased NADH:NAD+ ratio? | Gluconeogenesis |
| Is gluconeogenesis or glycolysis inhibited by chronic alcoholism? | Gluconeogenesis |
| What is the main cause of Hypoglycemia in Ethanol metabolism? | The inhibition of gluconeogenesis |
| What are the causes of gluconeogenesis inhibition in EtOH metabolism? | 1. Preventing lactate oxidation to pyruvate in the mitochondria 2. Prevention of Lactate conversion into malate in the cytosol |
| What is prevented in the mitochondria in an elevated NADH: NAD+ ratio? | Lactate oxidation to Pyruvate |
| What type of Collagen is affected in Osteogenesis imperfecta? | Type I Collagen |
| AD condition due to structural defect in type I collagen synthesis. Dx? | Osteogenesis imperfecta |
| What are physical features of Osteogenesis imperfecta? | 1. Progressive hearing loss 2. Blue sclera 3. Discolored teeth |
| What is Osteogeneis imperfecta? | Autosomal dominant conditions associated with recurrent bone fracturs with minimal or minor injuries in children |
| Which of the 5 senses is affected by Osteogenesis imperfecta? | Hearing |
| What type of Jaundice is seen in Pancreatic adenocarcinoma? | Obstructive (Post-hepatic) jaundice |
| Which malignancy is often associated or seen with Obstructive (posthepatic) jaundice? | Pancreatic adenocarcinoma |
| What type of hyperbilirubinemia is developed in Pancreatic adenocarcinoma? | Conjugated (direct) hyperbilirubinemia |
| In order to be detected in urine, the bilirubin must be conjugated or unconjugated? | Conjugated |
| Which type of bilirubin is detected in urine, direct or indirect? | Direct |
| Which type of bilirubin , conjugated or unconjugated (indirect), is not water soluble? | Unconjugated |
| Why is direct (conjugated) bilirubin seen in urine? | Conjugated bilirubin is water soluble |
| Which bilirubin is not water soluble? | Unconjugated bilirubin |
| What is a result of cyanide poisoning? | Oxygen is unable to serve as the final electron acceptor in the ETC. |
| What type of poisoning causes oxygen to be unable to serve as the final electron acceptor in ETC? | Cyanide |
| What is the major form of ATP generation in CN poisoning? | Anaerobic metabolism |
| Which biochemical process goes into "shutdown" during cyanide poisoning? | Oxidative phosphorylation |
| Increase anaerobic metabolism seen in CN poisoning leads to ---> | Lactic acidosis |
| What type of metabolic acidosis is seen in CN poisoning? | High anion gap Metabolic acidosis due to Lactic acid production |
| What are common actions leading to CN poisoning? | House and apartment fires |
| To which complex in the ETC does CN bind to? | Complex IV (cytochrome C oxidase) |
| Which compound is known to halt production of aerobic ATP by binding to cytochrome C oxidase (complex IV) in the ETC? | Cyanide |
| What is the name of Complex IV in the ETC? | Cytochrome C oxidase |
| What neonatal condition is due to a deficiency of surfactant? | Neonatal Respiratory Distress syndrome (NRDS) |
| What is the pathogenesis of NRDS? | Results from surfactant deficiency, leading to inability to keep alveoli open at low air volumes |
| What is the main treatment to the neonate for NRDS? | Exogenous phosphatidylcholine |
| What is the main treatment option of NRDS while still a fetus? | Administer glucocorticoids to the mother with the fetus |
| Why are glucocorticoids not an good option for NRDS in a 1 day old neonate? | The steroids are effective while still a fetus |
| What are common endogenous bronchoconstriction? | LTC4, LTD4, and LTE4 |
| What are common antileukotrienes? | Zileuton, Montelukast, and Zafirlukast |
| What vitamin deficiency is associated with Wernicke-Korsakoff syndrome? | Vitamin A |
| How is Wernicke encephalopathy manifested? | Ataxia, encephalopathy, and oculomotor dysfunction |
| What are the manifestations of Korsakoff psychosis? | Anterograde amnesia and confabulation |
| How does Thiamine deficiency lead to Lactic acidosis? | Vitamin A (thiamine) serves aes cofactor of Pyruvate dehydrogenase |
| What is a cofactor of Pyruvate dehydrogenase? | Vitamin A (thiamine) |
| What is the cause of Alkaptonuria? | Deficiency of Homogentisic acid oxygenase |
| What condition is due to deficiency of Homogentisic acid oxygenase? | Alkaptonuria |
| What is the result of Alkaptonuria? | Deposition of Homogentisic acid in cartilage (eyes, ears), kidneys, and heart valves. |
| In which metabolic processes is Homogentisic acid oxidase involved with? | Tyrosine and Phenylalanine metabolic pathways |
| Which amino acids should be restricted in diet in patient with Alkaptonuria? | Tyrosine and Phenylalanine |
| What is the rate limiting step of Fatty acid synthesis? | Carboxylation of acetyl-CoA to Malonyl-CoA |
| Important substrate for Fatty acid synthesis | Malonyl-CoA |
| What is needed to catalyze the carboxylation of Acetyl-CoA to Malonyl-CoA? | Acetyl-CoA carboxylase and Biotin (vitamin B7) cofactor |
| What is a function of Malonyl-CoA in Fatty acid degradation? | Inhibition of CAT I in FA degradation, prevention mitochondrial entry of fatty acids |
| Locations of primary Fatty acid synthesis? | Liver, Mammary glands, and Adipose tissue |
| What compound is essentially required for Fatty acid synthesis? | Citrate |
| Which metabolic process requires transport of citrate from the mitochondria to the cytosol? | Fatty acid synthesis |
| Acetyl-CoA + (Acetyl-CoA carboxylase + biotin) ===> | Malonyl-CoA |
| What is a Metachromatic Leukodystrophy? | Autosomal recessive lysosomal storage disease, most commonly due to Arylsulfatase A deficiency |
| What condition is due to deficiency of Arylsulfatase A? | Metachromatic Leukodystrophy |
| What is accumulated in Metachromatic leukodystrophy? | Cerebroside sulfatase |
| What condition is esen with a change of color Toluidine blue dye to reddish-pink? | Metachromatic Leukodystrophy |
| Which Lysosomal storage disease will be associated in the vignette with "Toluidine blue dye" test or result? | Metachromatic Leukodystrophy |
| Inheritance mode of Lesch-Nyhan syndrome? | X-linked recessive |
| Lesch-Nyhan syndrome is AR or XR inheritance? | X-linked recessive |
| What causes Lesch-Nyhan syndrome? | Lack of Hypoxanthine-guanine phosphoribosyltransferase |
| Which pathway is involved in the pathogenesis of Lesch-Nyhan syndrome? | Purine Salvage pathway |
| What is accumulated in excess in Lesch-Nyhan syndrome? | Uric acid |
| Which XR condition with excess uric acid is seen with Megaloblastic anemia? | Lesh-Nyhan syndrome |
| What condition, is associated with self mutilating behavior of children and poor utilization of vitamin B9 and/or vitamin B12? | Lesh-Nyhan syndrome |
| What is a RBC histological finding in blood smear of Lesch-Nyhan syndrome? | Hypersegmented neutrophils |
| What the classic manifestations of Lead poisoning? | Fatigue, abdominal pain, peripheral neuropathy, and headaches |
| What type of anemia is due to Lead poisoning? | Microcytic anemia |
| What is the main and most characteristic histological finding of Lead poisoning? | Basophilic stippling |
| How does lead poisoning cause microcytic anemia? | Disruption of heme synthesis |
| What two conditions can be caused by lead poisoning disruption of heme synthesis? | 1. Acute Intermittent Porphyria 2, Porphyria Cutanea Tarda (photophobia) |
| Philadelphia chromosome. Dx? | Chronic Myeloid Leukemia (CML) |
| t(9;22). Dx? | Chronic Myeloid Leukemia (CML) |
| What is the treatment for CMl? | Imatinib |
| Which hematologic condition is treated with Imatinib? | Chronic Myeloid Leukemia (CML) |
| What is the Philadelphia chromosome translocation? | t(9;22) |
| What protein results from t(9;22)? | BCR-ABL fusion protein |
| What is the function of the BCR-ABL fusion protein in CML? | Constitutively active Tyrosine Kinase receptor, that promotes proliferation of malignant cells |
| Which hematologic malignancy is associated with BCR-ABL fusion protein? | Chronic Myeloid Leukemia (CML) |
| Is CML seen with LOW or HIGH, LAP activity? | Low |
| Why is the reason of Low LAP activity in CML? | Due to malignant neutrophils |
| What kind of receptor is the BCR-ABL fusion protein in CML? | Tyrosine Kinase receptor |
| What is the mode of inheritance of Hunter syndrome? | X-linked recessive |
| Hunter syndrome is due to: | Deficiency of Iduronate-2-sulfatase |
| How is Hunter syndrome clinically manifested? | Coarse facial features, aggressive behavior, pearly skin lesions and clear corals in fundoscopic exam |
| Hunter or Hurler syndrome is seen with clear corneas? | Hunter syndrome |
| Which organelle is defective or affected in Refsum disease? | Peroxisomes |
| Common disease of defective Peroxisomes | Refsum disease |
| AR disorder of defective alpha-oxidation of Peroxisomes | Refsum disease |
| What lab is elevated in Refsum disease? | Phytanic acid |
| How is Refsum disease presented clinically? | Neurologic deficits and a thick, scaly skin |
| Which peroxisomal condition presents with a thick, scaly skin? | Refsum disease |
| What is Refsum disease? | Peroxisomal disorder that affects the myelin sheath formation |
| Peroxisomal disorder that affects the formation of the Myelin sheath: | Refsum disease |
| What do Peroxisomes contain? | Enzymes involved in very-long-chain fatty acid metabolism |
| Which organelles are know to have enzymes that are involved in the metabolism of VLCFAs? | Peroxisomes |
| What condition is the result of imported triglyceride degradation due to deficiency in Lipoprotein lipase? | Type 1 Familial Dyslipidemia |
| What enzyme is deficient in Type 1 Familial Dyslipidemia? | Lipoprotein lipase |
| Defective Lipoprotein lipase. Dx? | Type1 Familial Dyslipidemia |
| Which familial dyslipidemia is characterized by high levels of chylomicrons and severely high levels of Triglycerides? | Type 1 Familial Dyslipidemia |
| The elevated triglycerides and chylomicrons in Type 1 dyslipidemia increases the risk of developing what condition? | Acute pancreatitis |
| What is the mode of inheritance of Type 1 Familial Dyslipidemia? | Autosomal recessive |
| What are clinical features of Type 1 familial dyslipidemia? | Acute pancreatitis, hepatosplenomegaly, lipid retinalis, eruptive xanthomas, and milky supernatant |
| What enzyme deficiency leads to Acute Intermittent Porphyria (AIP)? | Porphobilinogen deaminase |
| What is the treatment for AIP? | Hemin and glucose |
| What are some clinical features of AIP? | - abdominal Pain - Polyneuropathy - Psychological disturbances - elevated Porphobilinogen - Port-wine colored urine - Precipitated by CYP450 inducers |
| AIP is precipitated by CYP450 inhibitors or inducers? | CYP450 inducers |
| Deficiency of Porphobilinogen deaminase. Dx? | Acute Intermittent Porphyria (AIP) |
| What is the definition of Genetic drift? | Caused by point mutations in the genome, slowin changing the virus for year to year |
| Genetic shift or generic drift requires year to year vaccines? | Genetic drift |
| What is more severe Genetic Shift or Genetic Drift? | Genetic shift |
| Radical reassortment of genome leading to pandemics. This phenomenon is called _____________ ____________. | Genetic shift |
| COVID-19 crisis is due to Genetic shift or Genetic drift? | Genetic shift |
| The fact we get yearly influenza vaccinations, is an example of a Genetic shift or drift? | Genetic drift |
| What is the overall role of ACE-inhibitors? | Disrupt the conversion of AT I into AT II |
| ACE inhibitors cause effects on Gs, Gi, or Gq? | Gq |
| What is the result of ACE-inhibitors actions on Gq? | Decrease activity of Phospholipase C in vascular smooth muscle cells in the efferent renal arteriole |
| What is the cause of Kartagener syndrome? | Defect in Dynein that prevents effective movement of cilia |
| What are some common characteristics of Kartagener syndrome? | Sinusitis, bronchiectasis, situs inversus, and male & female infertility |
| Which is seen with situs inversus, Cystic fibrosis or Kartagener syndrome? | Kartagener syndrome |
| Which skeletal conditions is seen with Cystic fibrosis? | Kyphoscoliosis |
Created by:
rakomi
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