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This is a nonsense mutation due to replacement of C with G at the 3rd position of the 3rd codon. The mRNA sequence will be read in a 5' to 3' fashion, and it will thus be identical to the reference sequence shown in the vignette with the exception of U replacing T. Thus, the 3rd codon will be UAG, which is a stop codon that does not code for any amino acid but rather stops the process of mRNA transcription leading to a nonsense mutation. +
Patients with Klinefelter's syndrome have an additionally X chromosome. The total number of chromosomes is thus 47, not 46. +
While loss of heterozygosity is a term commonly used with tumor suppressors, the mutation in this case is heterozygous. +
The most common complication of a supracondylar fracture is neurovascular injuries (8-21% of cases) with palsy to the anterior interosseus nerve being most common. It presents as inability to flex the interphalangeal joint of his thumb and the distal interphalangeal joint of his index finger (can't make A-OK sign). +
Lachman’s test is used to detect an injury to the anterior cruciate ligament. The drawer tests are used to test rupture of the cruciate ligaments in the knee. +
TSH, BUN, creatinine, Pregnancy test are necessary tests to perform prior to starting patients on lithium due to associated teratogenicity, renal injury and thyroid disorders with lithium therapy. +
Incorrect. The presence of episodes of vertigo along with fluctuating hearing loss are consistent with the diagnosis of Meniere's disease, which is also characterized by tinnitus or a ringing sound in the ear. Some patients also experience a pressure sensation in the ear. Episodes occur at regular intervals for years, and may also be marked by periods of remission. The cause is an increase in the volume of endolymph. +
The patient does not have acute hepatitis B because the IgM antibody to hepatitis B core is negative, and the total antibody to hepatitis B core is positive. Antibody to hepatitis B core occurs prior to the development of antibody to hepatitis B surface. IgM is found in acute infections; primarily IgG is seen in chronic infections. +
Incorrect. The presence of episodes of vertigo along with fluctuating hearing loss are consistent with the diagnosis of Meniere's disease, which is also characterized by tinnitus or a ringing sound in the ear. Some patients also experience a pressure sensation in the ear. Episodes occur at regular intervals for years, and may also be marked by periods of remission. The cause is an increase in the volume of endolymph. +
This patient has Hashimoto’s thyroiditis, which does not typically increase the risk of developing papillary carcinoma of the thyroid. Papillary carcinoma of the thyroid is the most common thyroid cancer. It may be associated with ''BRAF V600E'' mutations that may now be treated with vemurafenib. Other genetic alterations involve ''NRAS'' point mutation and RET translocation. +
This question is not implicated in defining risk factors or possible etiologies for hypertension. +
HIV infection in newborns may be transmitted from infected mothers who have significant viral load. Untreated newborns usually have a less acute presentation and develop recurrent opportunistic infections. +
Neurofibrillary tangles are abnormal aggregates of proteins within neurons of patients with Alzheimer's disease. Patient’s with Down syndrome have a high risk of developing Alzheimer’s disease at an early age due to increased gene dosage of the amyloid precursor protein (APP) on chromosome 21. +
5-Fluorouracil (5-FU) is a pyrimidine analogue that inhibits thymidylate synthase. It is indicated for a variety of adenocarcinomas. Similar to all antimetabolites, 5-FU acts during S-phase of the cell cycle. Therefore, accumulation of cells in M-phase with doubling of DNA content is not expected with 5-FU therapy. +
5-Fluorouracil (5-FU) does not intercalate between DNA nucleotides, but rather acts as an antimetabolite. 5-FU is a pyrimidine analogue that inhibits thymidylate synthase. +
Acute gout is an inflammatory arthritis due to deposition of monosodium urate. Gout is generally treated with NSAIDs and colchicine. However, many patients with polycythemia vera (PV) develop gout due to the rapid turnover of erythrocytes observed in PV that results in uric acid release, hyperuricemia, and gouty attacks. +
Acrolein is the urotoxic metabolite of cyclophosphamide that is responsible for hemorrhagic cystitis. +