Random 20 Questions - Clinical Biochemistry

Alcohol can precipitate symptoms of carcinoid, pain in osteoid osteoma, and gout. Carcinoid is a type of tumor that releases hormones, and alcohol can stimulate the release of these hormones, leading to symptoms. Osteoid osteoma is a benign bone tumor that causes localized pain, and alcohol consumption can exacerbate this pain. Gout is a form of arthritis caused by high levels of uric acid in the blood, and alcohol can increase uric acid production and trigger gout attacks. Therefore, all of the above conditions can be worsened by alcohol consumption.

Central pontine myelinolysis (CPM) is a neurological disorder characterized by the destruction of the myelin sheath in the central pons region of the brain. This condition can result in various symptoms, including spastic quadriplegia, which refers to muscle stiffness and weakness in all four limbs. Pseudobulbar palsy is another feature of CPM, which involves difficulty in controlling facial movements, speech, and swallowing. Delirium, a state of confusion and disorientation, can also occur in individuals with CPM. Therefore, the correct answer is "All of the above" as all these features can be present in central pontine myelinolysis.

very easy to answer... :-)

CA 50 - colorectal carcinoma

The intracellular shift of potassium is a process that involves moving potassium ions from the extracellular fluid into the intracellular space. Insulin and beta 2 agonists are known to promote this shift by stimulating the activity of the sodium-potassium pump. Alkalosis, which is a condition characterized by increased blood pH, can also cause an intracellular shift of potassium. However, acidosis, which is a condition characterized by decreased blood pH, does not promote the intracellular shift of potassium. Therefore, acidosis is the correct answer as it is not involved in the intracellular shift of potassium.

Don't jump into conclusion in the first option itself !!!

Anticipation is early onset and increased severity of disease in next generation. peculiar to trinucleotide repeat disorders.

Delta bilirubin refers to conjugated bilirubin that is covalently bound to albumin. Conjugated bilirubin is a water-soluble form of bilirubin that has been processed by the liver and is ready for excretion. It is bound to albumin, a protein in the blood, through a covalent bond. This form of bilirubin is typically found in conditions where there is impaired liver function or bile flow, such as in obstructive jaundice or liver disease.

Bilateral vestibular schwannomas / acoustic neuroma is found in NF2.

NTBC, initially tried as herbicide. inhibits tyrosine metabolism.

premutation is seen in trinucleotide repeat expansion.

it is a lysosomal cysteine protease. Glucose 6 phosphatase is present in ER.

Type I, II, III defects are given in order.

The correct answer is "Fragile X - CTG" because Fragile X syndrome is caused by an expansion of the CGG trinucleotide repeat in the FMR1 gene, not CTG. CTG repeat expansions are associated with other genetic disorders, such as myotonic dystrophy. Therefore, Fragile X and CTG do not match.

Germline mutation of p53 gene is associated with Li Fraumeni syndrome. This syndrome is a rare inherited disorder that predisposes individuals to a wide range of cancers, including breast cancer, brain tumors, sarcomas, and leukemia. The p53 gene is a tumor suppressor gene that plays a crucial role in regulating cell growth and preventing the formation of tumors. When there is a mutation in this gene, it can lead to the development of Li Fraumeni syndrome, which is characterized by an increased risk of multiple types of cancer at an early age.

Estriol is less potent than E2.
Measured in triple test for down syndrome.
Placenta does not express P450C17. Fetal adrenal glands play a central role in placental steroidogenesis and maintainance of pregnancy, onset of labor.
DHEAS produced by fetal adrenal is converted into Estriol by placenta.

Lynch syndrome is the other name of HNPCC. Molecular basis is microsatellite instability caused by defective DNA mismatch repair genes.

Tyrosinemia is not a component of Garrod's tetrad. Garrod's tetrad refers to the four inborn errors of metabolism that Garrod identified, which include alkaptonuria, albinism, cystinuria, and pentosuria. Tyrosinemia is a separate metabolic disorder characterized by the body's inability to break down the amino acid tyrosine. It is not included in Garrod's tetrad.

gain of function mutation of Gs results in uncontrolled production of hormones, hence precocious puberty.

AQP2 is mutated in DI.