Property:AnswerEExp
Jump to navigation
Jump to search
W
Although hepatic cysts are associated with ADPKD, women tend to have massive cystic enlargement of the liver due to the role that estrogen plays in accentuating the growth of these cysts. +
''VHL'' gene mutations increase the activity of the hypoxia-inducible factor transcription factor (HIF). HIF increases the expression of many pro-angiogenic proteins to promote tumorigenesis. Bilateral renal cell carcinoma is associated with Von Hippel-Lindau (VHL) syndrome, which is caused by mutations in the ''VHL'' gene. +
Patients with Turner syndrome have elevated FSH and LH due to loss of feedback inhibition caused by abnormally low estrogen levels. The majority of patients have a form of ovarian dysgenesis (or less commonly agenesis). Ovaries eventually become fibrotic, resulting in "streak ovaries". Although present, the uterus of patients with Turner syndrome is typically hypoplastic due to persistently low levels of estrogen during childhood. +
Patients with cystic fibrosis might suffer from neonatal jaundice, but this is not the most likely presentation. Neonates wtih cholestatic disease, duodenal atresia, hemolysis, infections, and congenital hypothyroidism may typically present with jaundice. +
This is a missense mutation due to replacement of C at the second position of the first codon with A. +
While the observed mutation may cause the protein to lose some of its biological function, it does so in a dominant negative manner. Loss-of-function mutations typically act in a recessive manner at the molecular level. +
The McMurray test, also known as the McMurray circumduction test is used to evaluate individuals for tears in the meniscus of the knee. It is a rotation test for demonstrating torn cartilage of the knee. A tear in the meniscus may cause a pedunculated tag of the meniscus, which may become jammed between the joint surfaces.
To perform the test, the knee is held by one hand, which is placed along the joint line, and flexed to complete flexion while the foot is held by the sole with the other hand. The examiner then places one hand on the lateral side of the knee to stabilize the joint and provide a valgus stress in order to identify a valgus deformity. The other hand rotates the leg externally while extending the knee. If pain or a "click" is felt, this constitutes a "positive McMurray test" for a tear in the medial meniscus. Likewise the medial knee can be stabilized in a fully flexed position and the leg internally rotated as the leg is extended. A tag, caused by a tear will cause a palpable or even audible click on extension of the knee. A positive test indicates a tear of the lateral meniscus. +
Incorrect. Vestibular neuronitis presents as acute onset of vertigo, nausea, and vomiting lasting for several days. As this condition is not clearly inflammatory in nature, neurologists often refer to it as vestibular neuropathy. The etiology is unknown, but it appears to be a sudden disruption of afferent neuronal input from the left and right inner ears. This imbalance in vestibular neurologic input to the central nervous system causes symptoms of vertigo. Besides the unilateral caloric weakness, electronystagmography reveals a directional preponderance and beating nystagmus away from the affected side. Work-up of patients with vestibular neuronitis begins with thorough history and physical examination. Audiometry and vestibular testing are the cornerstones of diagnosis, with imaging and laboratory studies being guided by findings on examination. Bedside examination includes Doll's eye test, head shaking nystagmus, dynamic visual acuity, caloric testing, rotational testing, past pointing, Romberg and Fukuda tests, and tandem walking. Patients with this condition do not generally have auditory symptoms. +
A quantitative hepatitis B viral load might be useful to evaluate for potential antiviral therapy. +
<font color="red">'''Incorrect.'''</font> Renin, secreted by the kidney JG cells, transforms Angiotensinogen (secreted from the liver) into Angiotensinogen I. +
Incorrect. Vestibular neuronitis presents as acute onset of vertigo, nausea, and vomiting lasting for several days. As this condition is not clearly inflammatory in nature, neurologists often refer to it as vestibular neuropathy. The etiology is unknown, but it appears to be a sudden disruption of afferent neuronal input from the left and right inner ears. This imbalance in vestibular neurologic input to the central nervous system causes symptoms of vertigo. Besides the unilateral caloric weakness, electronystagmography reveals a directional preponderance and beating nystagmus away from the affected side. Work-up of patients with vestibular neuronitis begins with thorough history and physical examination. Audiometry and vestibular testing are the cornerstones of diagnosis, with imaging and laboratory studies being guided by findings on examination. Bedside examination includes Doll's eye test, head shaking nystagmus, dynamic visual acuity, caloric testing, rotational testing, past pointing, Romberg and Fukuda tests, and tandem walking. Patients with this condition do not generally have auditory symptoms. +
Hashimoto's thyroiditis does not usually increase the risk of developing anaplastic carcinoma of the thyroid. These tumors carry a poor prognosis and tend to occur in older patients. +
Variable expressivity occurs when a phenotype varies among individuals who have the same genotype. Although MFS is characterized by variable expressivity, whereby some patients patients have dissimilar manifestations, locus heterogeneity better explains the resident's argument in the vignette. +
This question is not implicated in defining risk factors or possible etiologies for hypertension. +
Gene silencing is an epigenetic regulation of gene expression, where chromosomal DNA expression is shut down. It is most often achieved by methylation of the gene promoter. An example of a disorder caused by gene silencing is Prader-Willi syndrome. +
''N. gonnorrhea'' does not commonly causes osteomyelitis. When it does, it is a subacute illness with minimal systemic symptoms. +
Herpes simplex virus (HSV2) transmission often occurs during the peripartum period. Herpes infection may cause a vesicular rash and temporal lobe encephalitis that results in seizures and high-grade fever. +
Folic acid (vitamin B9) may be administered routinely with methotrexate to reduce nausea and mouth ulcers associated with methotrexate administration. Unlike leucovorin, folic acid cannot overcome methotrexate-induced inhibition of the dihydrofolate reductase enzyme and is not helpful in severe adverse events. +