Lesch-Nyhan syndrome, the sex linked, recessive absence of HGPRTase, may lead to (A) Compulsive self destructive behaviour with elevated levels of urate in serum (B) Hypouricemia due to liver damage (C) Failure to thrive and megaloblastic anemia (D) Protein intolerance and hepatic encephalopathy

Lesch-Nyhan syndrome, the sex linked, recessive absence of HGPRTase, may lead to (A) Compulsive self destructive behaviour with elevated levels of urate in serum (B) Hypouricemia due to liver damage (C) Failure to thrive and megaloblastic anemia (D) Protein intolerance and hepatic encephalopathy
by

1 Answer

Answer :

Answer :  A
by
selected

Related questions

All are true about lesch-nyhan syndrome except (A) Produces self-mutilation (B) Genetic deficiency of the enzyme (C) Elevated levels of uric acid in blood (D) Inheritance is autosomal recessive

Description : All are true about lesch-nyhan syndrome except (A) Produces self-mutilation (B) Genetic deficiency of the enzyme (C) Elevated levels of uric acid in blood (D) Inheritance is autosomal recessive

Last Answer : Answer : B

Lesch-Nyhan syndrome, the sex linked recessive disorder is due to the lack of the enzyme: (A) Hypoxanthine-guanine phosphoribosyl transferse (B) Xanthine oxidase (C) Adenine phosphoribosyl transferase (D) Adenosine deaminase

Description : Lesch-Nyhan syndrome, the sex linked recessive disorder is due to the lack of the enzyme: (A) Hypoxanthine-guanine phosphoribosyl transferse (B) Xanthine oxidase (C) Adenine phosphoribosyl transferase (D) Adenosine deaminase

Last Answer : Answer : A

Which of the following is true of Gilbert's syndrome? 1) inheritance is autosomal recessive 2) serum conjugated bilirubin levels are elevated 3) serum bilirubin levels are decreased by fasting 4) serum bilirubin levels are decreased by liver enzyme inducers 5) there is bilirubinuria

Description : Which of the following is true of Gilbert's syndrome? 1) inheritance is autosomal recessive 2) serum conjugated bilirubin levels are elevated 3) serum bilirubin levels are decreased by fasting 4) serum bilirubin levels are decreased by liver enzyme inducers 5) there is bilirubinuria

Last Answer : Answers-4 Gilbert's syndrome is inherited in autosomal dominant fashion and affects 2-5% of the population. UDP glucuronyl transferase levels are reduced leading to an unconjugated hyperbilirubinaemia. ... the bilirubin is reabsorbed in the proximal tubule some bilirubin is detectable in the urine.

Trials for gene therapy in human beings were first carried out, with considerable success, in a genetic disease called (A) Cystic fibrosis (B) Thalassemia (C) Adenosine deaminase deficiency (D) Lesch-Nyhan syndrome

Description : Trials for gene therapy in human beings were first carried out, with considerable success, in a genetic disease called (A) Cystic fibrosis (B) Thalassemia (C) Adenosine deaminase deficiency (D) Lesch-Nyhan syndrome

Last Answer : Answer : C

Which of the following statement(s) is/are true concerning metabolic derangements in sepsis and the systemic inflammatory response syndrome which may follow progressive shock? a. Alterations in glucose metabolism lead to the development of efficient substrate utilization b. A progressive rise in serum triglyceride levels result from less efficient clearance and increased hepatic lipogenesis c. A net negative nitrogen balance occurs due to the oxidative metabolism of proteins to meet energy needs d. The serum aromatic amino acids fall rapidly as they are actively used in oxidative metabolism

Description : Which of the following statement(s) is/are true concerning metabolic derangements in sepsis and the systemic inflammatory response syndrome which may follow progressive shock? a. Alterations in glucose ... The serum aromatic amino acids fall rapidly as they are actively used in oxidative metabolism

Last Answer : Answer: b, c A broad spectrum of metabolic abnormalities become apparent in sepsis and the systemic inflammatory response syndrome following shock. Disruption of the normal cycles of carbohydrate, ... acetyl coenzyme A. This results in reduced serum level of leucine, isoleucine and valine

Lesch-Nyhan syndrome?

Description : Lesch-Nyhan syndrome?

Last Answer : DefinitionLesch-Nyhan syndrome is an inheritable disorder that affects how the body builds and breaks down purines. Purines are a normal part of human tissue and help make up the body's genetic blueprint. ... to develop gout-like swelling in some of their joints. In some cases, kidney and bl

Pick out the correct statements. (1) Haemophilia is a sex-linked recessive disease. (2) Down’s syndrome is due to aneuploidy. (3) Phenylketonuria is an autosomal recessive gene disorder. (4) Sickle cell anaemia is an X-linked recessive gene disorder. (a) (1), (3) and (4) are correct. (b) (1), (2) and (3) are correct. (c) (1) and (4) are correct. (d) (2) and (4) are correct.

Description : Pick out the correct statements. (1) Haemophilia is a sex-linked recessive disease. (2) Down's syndrome is due to aneuploidy. (3) Phenylketonuria is an autosomal recessive gene disorder. (4) Sickle cell anaemia is an X- ... are correct. (c) (1) and (4) are correct. (d) (2) and (4) are correct.

Last Answer : (b) (1), (2) and (3) are correct.

Complete absence of hypoxanthine guanine phospharibosyl transferase causes (A) Primary gout (B) Immunodeficiency (C) Uric acid stones (D) Lesh-Nyhan syndrome

Description : Complete absence of hypoxanthine guanine phospharibosyl transferase causes (A) Primary gout (B) Immunodeficiency (C) Uric acid stones (D) Lesh-Nyhan syndrome

Last Answer : Answer : D

An autosomal recessive disorder, xanthinuria is due to deficiency of the enzymes: (A) Adenosine deaminase (B) Xanthine oxidase (C) HGPRTase (D) Transaminase

Description : An autosomal recessive disorder, xanthinuria is due to deficiency of the enzymes: (A) Adenosine deaminase (B) Xanthine oxidase (C) HGPRTase (D) Transaminase

Last Answer : Answer : B

Which of the following statement(s) is/are true concerning hemophilia A? a. Hemophilia A is inherited as a sex-linked recessive deficiency of factor VIII b. A positive family history for bleeding disorders present in all patients c. Laboratory tests reveal a prolongation of aPTT, prothrombin time (PT), thrombin clotting time and platelet aggregation d. Spontaneous bleeding is unusual with factor VIII levels greater than 10% of normal

Description : Which of the following statement(s) is/are true concerning hemophilia A? a. Hemophilia A is inherited as a sex-linked recessive deficiency of factor VIII b. A positive family history for ... platelet aggregation d. Spontaneous bleeding is unusual with factor VIII levels greater than 10% of normal

Last Answer : Answer: a, d Hemophilia A is inherited as a sex-linked recessive deficiency of factor VIII although 0% of cases are secondary to spontaneous mutation. The incidence of this abnormality is ... factor levels as low as 1% have been noted and patients are at risk for spontaneous bleeding

Megaloblastic anemia is caused by the deficiency of (A) Folic acid (B) Vitamin B6 (C) Iron (D) Protein

Description : Megaloblastic anemia is caused by the deficiency of (A) Folic acid (B) Vitamin B6 (C) Iron (D) Protein

Last Answer : Answer : A

Megaloblastic anemia is caused by the deficiency of (A) Folic acid (B) Vitamin B6 (C) Iron (D) Protein

Description : Megaloblastic anemia is caused by the deficiency of (A) Folic acid (B) Vitamin B6 (C) Iron (D) Protein

Last Answer : Answer : A

Select the incorrect statement with regard to haemophilia. (a) It is a dominant disease.(b) A single protein involved in the clotting of blood is affected. (c) It is a sex-linked disease. (d) It is a recessive disease.

Description : Select the incorrect statement with regard to haemophilia. (a) It is a dominant disease. (b) A single protein involved in the clotting of blood is affected. (c) It is a sex-linked disease. (d) It is a recessive disease.

Last Answer : (a) It is a dominant disease.

The presence of bilirubin in the urine without urobilinogen suggests (A) Obstructive jaundice (B) Hemolytic jaundice (C) Pernicious anemia (D) Damage to the hepatic parenchyma

Description : The presence of bilirubin in the urine without urobilinogen suggests (A) Obstructive jaundice (B) Hemolytic jaundice (C) Pernicious anemia (D) Damage to the hepatic parenchyma

Last Answer : Answer : A

Interleukin-6 is recognized as the cytokine primarily responsible for the alteration in hepatic protein synthesis recognized as the acute phase response. Which of the following statement(s) is/are true concerning acute phase protein response to surgical stress? a. Glucocorticoid hormones inhibit this response b. Proteins such as albumin and transferrin which serve in serum transport are generally increased in this response c. Examples of acute phase proteins include fibrinogen and C-reactive protein d. In general, the physiologic role of acute phase proteins are to reduce the systemic effects of tissue damage

Description : Interleukin-6 is recognized as the cytokine primarily responsible for the alteration in hepatic protein synthesis recognized as the acute phase response. Which of the following statement(s) is/are true ... physiologic role of acute phase proteins are to reduce the systemic effects of tissue damage

Last Answer : Answer: c, d IL-6 is now recognized at the cytokine primarily responsible for the alteration in hepatic synthesis recognized as the acute phase response. Glucocorticoid hormones augment ... that generally inhibit the tissue destruction that is associated with the local initiation of inflammation

A genetically diseased father (male) marries with a normal female and gives birth to 3 carrier girls and 5 normal sons. It may be which type of genetic disease? (a) Sex-influenced disease (b) Blood group inheritance disease (c) Sex-linked disease (d) Sex-recessive disease

Description : A genetically diseased father (male) marries with a normal female and gives birth to 3 carrier girls and 5 normal sons. It may be which type of genetic disease? (a) Sex-influenced disease (b) Blood group inheritance disease (c) Sex-linked disease (d) Sex-recessive disease

Last Answer : (c) Sex-linked disease

$ Haemophilia is a sex linked disease ! Haemophilia is due to a recessive gene.

Description : $ Haemophilia is a sex linked disease ! Haemophilia is due to a recessive gene.

Last Answer : $ Haemophilia is a sex linked disease ! Haemophilia is due to a recessive gene. A. If both As and R are ... R is wrong D. If both As and R are wrong.

Serum LDL has been found to be increased in (A) Obstructive jaundice (B) Hepatic jaundice (C) Hemolytic jaundice (D) Malabsorption syndrome

Description : Serum LDL has been found to be increased in (A) Obstructive jaundice (B) Hepatic jaundice (C) Hemolytic jaundice (D) Malabsorption syndrome

Last Answer : Answer : A

Serum AST activity is not characteristically elevated as the result of (A) Myocardial infarction (B) Passive congestion of liver (C) Muscular dystrophies (D) Peptic ulcer

Description : Serum AST activity is not characteristically elevated as the result of (A) Myocardial infarction (B) Passive congestion of liver (C) Muscular dystrophies (D) Peptic ulcer

Last Answer : Answer : D

Menke’s disease (Kinky or steel hair disease) is a X-linked disease characterized by (A) High levels of plasma copper (B) High levels of ceruloplasmin (C) Low levels of plasma copper and of ceuloplasmin (D) High level of hepatic copper

Description : Menke’s disease (Kinky or steel hair disease) is a X-linked disease characterized by (A) High levels of plasma copper (B) High levels of ceruloplasmin (C) Low levels of plasma copper and of ceuloplasmin (D) High level of hepatic copper

Last Answer : Answer : C

A 55-year-old male undergoes a total abdominal colectomy. Which of the following statement(s) is/are true concerning the hormonal response to the surgical procedure? a. Adrenocorticotropic hormone (ACTH) is secreted from the anterior pituitary gland b. ACTH stimulation results in elevation of serum cortisol levels for up to a week after the operation c. An increased secretion of aldosterone and ADH may contribute to postoperative fluid retention d. An increase in serum insulin and a fall in glucagon accelerate hepatic glucose production and maintain gluconeogenesis

Description : A 55-year-old male undergoes a total abdominal colectomy. Which of the following statement(s) is/are true concerning the hormonal response to the surgical procedure? a. Adrenocorticotropic ... in serum insulin and a fall in glucagon accelerate hepatic glucose production and maintain gluconeogenesis

Last Answer : Answer: a, c One of the earliest consequence of a surgical procedure is the rise in levels of circulating cortisol that occur in response to a sudden outpouring of ACTH ... hepatic glucose production, and, with other hormones (epinephrine and glucocorticoids), gluconeogenesis is maintained

A modified amino acid solution with increased equimolar branched-chain amino acids and decreased aromatic amino acids has been proposed for patients with hepatic insufficiency. Which of the following statements is/are true? A. This formulation is proposed for the use of patients with fulminant hepatitis. B. Nitrogen balance is achieved in such patients with amounts of 40 gm. of amino acids per 24 hours. C. The use of 80 to 100 gm. of such solutions is associated with hepatic encephalopathy. D. In some studies of surgical patients, improvements in mortality have been reported.

Description : A modified amino acid solution with increased equimolar branched-chain amino acids and decreased aromatic amino acids has been proposed for patients with hepatic insufficiency. Which of the following ... D. In some studies of surgical patients, improvements in mortality have been reported.

Last Answer : Answer: D DISCUSSION: The use of modified amino acid solutions is based on the false neurotransmitter hypothesis of the cause of hepatic coma. According to this hypothesis, the imbalance ... in a group of patients with cirrhosis, decreasing morbidity and showing a trend toward decreased mortality

The following laxative lowers blood ammonia level in hepatic encephalopathy: A. Bisacodyl B. Liquid paraffin C. Lactulose D. Magnesium sulfate

Description : The following laxative lowers blood ammonia level in hepatic encephalopathy: A. Bisacodyl B. Liquid paraffin C. Lactulose D. Magnesium sulfate

Last Answer : C. Lactulose

Excess intake of cobalt for longer periods leads to (A) Polycythemia (B) Megaloblastic anemia (C) Pernicious anemia (D) Microcytic anemia

Description : Excess intake of cobalt for longer periods leads to (A) Polycythemia (B) Megaloblastic anemia (C) Pernicious anemia (D) Microcytic anemia

Last Answer : Answer : A

Pyridoxine deficiency leads to (A) Megaloblastic anemia (B) Aplastic anemia (C) Hypochromic microcytic anemia (D) Pernicious anemia

Description : Pyridoxine deficiency leads to (A) Megaloblastic anemia (B) Aplastic anemia (C) Hypochromic microcytic anemia (D) Pernicious anemia

Last Answer : Answer : C

Deficiency of Iron leads to (A) Megaloblastic anemia (B) Aplastic anemia (C) Pernicious anemia (D) Hypochromic microcytic anemia

Description : Deficiency of Iron leads to (A) Megaloblastic anemia (B) Aplastic anemia (C) Pernicious anemia (D) Hypochromic microcytic anemia

Last Answer : Answer : D

A deficiency of folate leads to (A) Megaloblastic anemia (B) Aplastic anemia (C) Pernicious anemia (D) Hypochromic microcytic anemia

Description : A deficiency of folate leads to (A) Megaloblastic anemia (B) Aplastic anemia (C) Pernicious anemia (D) Hypochromic microcytic anemia

Last Answer : Answer : A

Pyridoxine deficiency leads to (A) Megaloblastic anemia (B) Aplastic anemia (C) Hypochromic microcytic anemia (D) Permicious anemia

Description : Pyridoxine deficiency leads to (A) Megaloblastic anemia (B) Aplastic anemia (C) Hypochromic microcytic anemia (D) Permicious anemia

Last Answer : Answer : C

A deficiency of Iron leads to (A) Megaloblastic anemia (B) Aplastic anemia (C) Pernicious anemia (D) Hypochromic microcytic anemia

Description : A deficiency of Iron leads to (A) Megaloblastic anemia (B) Aplastic anemia (C) Pernicious anemia (D) Hypochromic microcytic anemia

Last Answer : Answer : A

A deficiency of folate leads to (A) Megaloblastic anemia (B) Aplastic anemia (C) Pernicious anemia (D) Hypochromic microcytic anemia

Description : A deficiency of folate leads to (A) Megaloblastic anemia (B) Aplastic anemia (C) Pernicious anemia (D) Hypochromic microcytic anemia

Last Answer : Answer : B

Folate deficiency causes (A) Microcytic anemia (B) Hemolytic anemia (C) Iron deficiency anemia (D) Megaloblastic anemia

Description : Folate deficiency causes (A) Microcytic anemia (B) Hemolytic anemia (C) Iron deficiency anemia (D) Megaloblastic anemia

Last Answer : Answer : D

Deficiency of Vitamin A causes (A) Xeropthalmia (B) Hypoprothrombinemia (C) Megaloblastic anemia (D) Pernicious anemia

Description : Deficiency of Vitamin A causes (A) Xeropthalmia (B) Hypoprothrombinemia (C) Megaloblastic anemia (D) Pernicious anemia

Last Answer : Answer : A

Non-protein nitrogenous substances in blood are raised in (A) Starvation (B) Liver damage (C) Renal failure (D) All of these

Description : Non-protein nitrogenous substances in blood are raised in (A) Starvation (B) Liver damage (C) Renal failure (D) All of these

Last Answer : Answer : B

Megaloblastic anemia is caused due to the deficiency of?

Description : Megaloblastic anemia is caused due to the  deficiency of?

Last Answer : Vitamin B12

Phenytoin: 1) is a benzalkonium Derivative 2) is clinically effective serum level is in the range on 2-10 micrograms/ml. 3) A steady state blood level is achieved by 2-5 days 4) Can be used in management of alchohol withdrawl syndrome 5) Is the drug of choice in absence seizures.

Description : Phenytoin: 1) is a benzalkonium Derivative 2) is clinically effective serum level is in the range on 2-10 micrograms/ml. 3) A steady state blood level is achieved by 2-5 days 4) Can be used in management of alchohol withdrawl syndrome 5) Is the drug of choice in absence seizures.

Last Answer : Answers-4 Phenytoin is an imidazolidine derivative.It relates to barbiturates in chemical structure. Clinically effective seum level is in the range on 10-20 micrograms/ml. A steady state blood level is achieved by 7-10 days.

What statement is true about recessive sex-linked traits such as color blindness?

Description : What statement is true about recessive sex-linked traits such as color blindness?

Last Answer : Males inherit them only from their mothers -apex

.A diseased man marries a normal woman. They get three daughters and five sons. All the daughters were diseased and sons were normal. The gene of this disease is (a) sex linked dominant (b) sex linked recessive (c) sex limited character (d) autosomal dominant.

Description : .A diseased man marries a normal woman. They get three daughters and five sons. All the daughters were diseased and sons were normal. The gene of this disease is (a) sex linked dominant (b) sex linked recessive (c) sex limited character (d) autosomal dominant.

Last Answer : (a) sex linked dominant

A man and a woman, who do not show any apparent signs of a certain inherited disease, have seven children (2 daughters and 5 sons). Three of the sons suffer from the given disease but none of the daughters affected. Which of the following mode of inheritance do you suggest for this disease? (a) Sex-linked dominant (b) Sex-linked recessive (c) Sex-limited recessive (d) Autosomal dominant

Description : A man and a woman, who do not show any apparent signs of a certain inherited disease, have seven children (2 daughters and 5 sons). Three of the sons suffer from the given disease but none ... ? (a) Sex-linked dominant (b) Sex-linked recessive (c) Sex-limited recessive (d) Autosomal dominant

Last Answer : (b) Sex-linked recessive

Study the pedigree chart given below. What does it show? (a) Inheritance of a condition like phenylketonuria as an autosomal recessive trait. (b) The pedigree chart is wrong as this is not possible. (c) Inheritance of a recessive sex-linked disease like haemophilia. (d) Inheritance of a sex-linked inborn error of metabolism like phenylketonuria

Description : Study the pedigree chart given below. What does it show? (a) Inheritance of a condition like phenylketonuria as an autosomal recessive trait. (b) The pedigree chart is wrong as this is ... disease like haemophilia. (d) Inheritance of a sex-linked inborn error of metabolism like phenylketonuria

Last Answer : (a) Inheritance of a condition like phenylketonuria as an autosomal recessive trait.

Down’s syndrome is due to (a) crossing over (b) linkage (c) sex-linked inheritance (d) non-disjunction of chromosomes.

Description : Down’s syndrome is due to (a) crossing over (b) linkage (c) sex-linked inheritance (d) non-disjunction of chromosomes.

Last Answer : (d) non-disjunction of chromosomes.

Pre- hepatic jaundice occurs because of (A) Increased haemolysis (B) Liver damage (C) Biliary obstruction (D) None of these

Description : Pre- hepatic jaundice occurs because of (A) Increased haemolysis (B) Liver damage (C) Biliary obstruction (D) None of these

Last Answer : Answer : A

How do you suggest I get out of this circle of self-destructive behaviour?

Description : How do you suggest I get out of this circle of self-destructive behaviour?

Last Answer : answer:Change is not a linear process with begining a middle and an end, it is a cycle. Some times you only have to go round once, sometimes you have to go round many times. I quit smoking a ... prepared to quit again. Just because you didn't succeed last time doesn't mean that you can't succeed.

All the following statements about primary gout are true except (A) Its inheritance is X-linked recessive (B) It can be due to increased activity of PRPP synthetase (C) It can be due to increased activity of hypoxanthine guanine phosphoribosyl transferase (D) De novo synthesis of purines is increased in it

Description : All the following statements about primary gout are true except (A) Its inheritance is X-linked recessive (B) It can be due to increased activity of PRPP synthetase (C) It can be ... activity of hypoxanthine guanine phosphoribosyl transferase (D) De novo synthesis of purines is increased in it

Last Answer : Answer : C

Mc Ardle’s syndrome is characterized by the absence of (A) Liver phosphorylase (B) Muscle phosphorylase (C) Branching enzyme (D) Debranching enzyme

Description : Mc Ardle’s syndrome is characterized by the absence of (A) Liver phosphorylase (B) Muscle phosphorylase (C) Branching enzyme (D) Debranching enzyme

Last Answer : Answer : B

Answer: a, b, c, d Free oxygen radicals are chemical species that are intermediates in the normal process of cellular respiration. Oxidants that are free radicals have been implicated as initiators of reactions which lead to a variety of cellular injuries. Oxidants are derived from several sources, notably phagocytes. Among the effects of oxygen free radicals are membrane lipid peroxidation, DNA strand breaks, cytoskeletal disassembly and inhibition of glucose metabolism leading to decreased cellular ATP concentrations. (Figure 6-16) 187 Which of the following acute-phase protein levels are increased in human plasma following acute inflammation? a. C-reactive protein b. Serum amyloid c. a -Proteinase inhibitor d. Fibrinogen e. Albumin

Description : Answer: a, b, c, d Free oxygen radicals are chemical species that are intermediates in the normal process of cellular respiration. Oxidants that are free radicals have been implicated as initiators of ... a. C-reactive protein b. Serum amyloid c. a -Proteinase inhibitor d. Fibrinogen e. Albumin

Last Answer : Answer: a, b, c, d The acute-phase response is a series of homeostatic responses of the organism to tissue injury in infection and inflammation. After an inflammatory stimulus occurs, a number ... 30% to 50% of the level before injury. The reason for the decrease in production is poorly understood

Altering the amino acid profile in total parenteral nutrition solutions can be of benefit in certain conditions. Which of the following conditions are associated with a benefit by supplementation with the amino acid type listed? a. Acute renal failure and essential amino acids b. Hepatic failure and aromatic amino acids c. Short gut syndrome and glutamine d. Chronic renal failure and essential amino acids

Description : Altering the amino acid profile in total parenteral nutrition solutions can be of benefit in certain conditions. Which of the following conditions are associated with a benefit by supplementation with the ... c. Short gut syndrome and glutamine d. Chronic renal failure and essential amino acids

Last Answer : Answer: a, c In a number of conditions, altering the amino acid profile of the total parenteral nutrition solution can be of benefit. TPN with amino acids of high biologic value ... Glutamine-enriched TPN partially attenuates villous atrophy and may be useful in treatment of short gut syndrome

Megaloblastic anemia?

Description : Megaloblastic anemia?

Last Answer : DefinitionMegaloblastic anemia is a blood disorder in which there is anemia with larger-than-normal red blood cells.Anemia is a condition in which the body does not ... anemiaSymptomsSee:Anemia - B12 deficiencyFolate-deficiency anemiaPernicious anemiaSigns and testsFor testing information, see:Ane