Biochem contd step 17-30 Flashcards
A palindromic sequence in DNA occurs when reading the nucleic acids in the 5’ to 3’ direction on one strand matches reading the nucleic acids on the complimentary strand in the other direction. In this case, the complementary strand of?
5’ TGTACA 3’ is 3’ ACATGT 5’. Reversing that strand would read 5’ TGTACA 3’, which is identical to the original strand. This is a true DNA palindromic sequence.
The boy presents with signs (increased creatinine, hematuria) and symptoms (lower back and pelvic pain) consistent with ?
2.Microscopic evaluation of the stone is an important key to identifying the cause. A hexagonal shaped microscopic crystal is characteristic of ?
nephrolithiasis. This condition is relatively uncommon in children and hereditary causes should be investigated in young patients with recurrent kidney stones.
2.cystinuria. Patients with cystinuria typically have increased levels of lysine and arginine in their urine due to a defect in amino acid reabsorption in the proximal tubule which leads to wasting of lysine, arginine, cystine, and ornithine.
The elevated cystine level in the urine leads to recurrent stone formation. Treatment involves hydration and alkalization of the urine with acetazolamide.
Although hyperparathyroidism can be a cause of recurrent nephrolithiasis,?
it would not cause elevated lysine and arginine levels in the urine
Hyperparathyroidism could cause nephrolithiasis,?
but not elevated arginine and lysine levels in the urine.
A defect in the vitamin D receptor would not cause ?
elevated arginine and lysine levels in the urine.
This patient, who has an occupational exposure to heavy metals, presents with symptoms of fatigue and headache. His history and clinical presentation, as well as the basophilic stippling (shown by the arrows in the vignette image), point toward a diagnosis of ?
lead poisoning. Lead can cause demyelination and degeneration of axons, which explains the peripheral neuropathy (“wrist drop” finding on exam). In chronic lead poisoning, the anemia is due to a lack of functional hemoglobin. Lead inhibits synthesis of heme on two levels: (1) It blocks δ-aminolevulinic acid dehydratase, and (2) it decreases iron incorporation into heme. Without heme, the hemoglobin molecule cannot function. Inherited defects of the same biochemical pathway responsible for this patient’s symptoms can result in acute intermittent porphyria, producing abdominal pain and psychological disturbances, as well as porphyria cutanea tarda, characterized by photosensitivity.
An increase in the fetal form of hemoglobin (HbF) would not be expected, since?
defects in the heme synthesis pathway would affect HbF the same as it affects HbA (adult hemoglobin), as heme and globin pairing would be universally affected.
A defect in heme synthesis would not result in?
increased heme breakdown products, making jaundice and splenomegaly unlikely.
A defect in the heme synthesis pathway would result in decreased levels of hemoglobin in RBCs, but would not produce ?
a buildup of oxygenated hemoglobin. In fact, the level of oxygenated vs. deoxygenated hemoglobin would not be altered
A decrease in hemoglobin’s affinity for oxygen binding would not result from a?
defect in the heme synthesis pathway. A microcytic anemia would be more likely.
The patient’s presentation of orthopnea, paroxysmal nocturnal dyspnea, and peripheral edema are highly suggestive of ?
congestive heart failure (CHF). His recent symptoms, including nausea, vomiting, and visual changes, are likely related to digoxin toxicity. Digoxin (although not first-line therapy) is one treatment option for CHF, and it works by increasing contractility and thus cardiac function.
Digoxin inhibits the Na+/K+ pump, which typically extrudes three Na+ for every two K+ brought into the cell during depolarization. Because the pump is inhibited, the intracellular concentration of Na+ increases
Digoxin’s mechanism of action does not directly affect ?
intracellular levels of bicarbonate, magnesium, chloride, or hydrogen.
This drug acts during the metaphase of the cell cycle and disrupts the function of the mitotic spindle. This description is consistent with the mechanism of action of ?
paclitaxel, a chemotherapeutic agent that prevents microtubule depolymerization, thereby stabilizing the mitotic spindle and preventing the migration of chromatids to their respective ends of the cell. Mitosis remains incomplete, leading to cell death. Paclitaxel is primarily used to treat advanced ovarian cancer and metastatic breast cancer.
5-fluorouracil resembles a nucleotide and therefore arrests the cell in? synthesis
the S phase, inhibiting DNA
Bleomycin intercalates DNA and causes ?
reactive oxidative species damage in the G2 phase
Cyclophosphamide alkylates DNA strands together, resulting in ?
crosslinking and impairing cell division throughout the entire cell cycle.
vincristine arrests cells in metaphase, it prevents ?
microtubule aggregation, a mechanism of action opposite to that of taxanes like paclitaxel.
This patient has a positive Gower sign—use of the upper extremities to stand up. When combined with his calf pseudohypertrophy (large muscle size in the presence of diminished muscle strength), the patient most likely has ?
the X-linked disorder, Duchenne muscular dystrophy (DMD).
DMD is caused by deletion of one or more exons of the DMD gene, which encodes the dystrophin protein; the exon deletion results in truncated and inactive dystrophin. Dystrophin plays a critical structural role by linking the cytoskeleton of the myocyte with the extracellular matrix. Its absence ultimately results in diminished muscle strength caused by progressive myofiber damage. Eventually, the muscle fibers are replaced with fat cells, which explains the large calves seen in patients with DMD.
Frameshift mutations are the most common cause of DMD. The other types of mutations are not the most likely cause of DMD.
Nonsense mutations are involved in about 10% of genetic diseases, including cases of DMD, cystic fibrosis, and spinal muscular atrophy. However, ?
frameshift mutations, rather than nonsense mutations, are more likely to cause DMD.
Nonstop mutations are associated with an array of ?
congenital diseases, including mitochondrial neurogastrointestinal encephalomyopathy and variable anterior segment dysgenesis.