TASK DEFINITION: Given a passage with a context and an answer, construct a question on the basis of the information present in the passage. Construct the question in such a way that (i) it is unambiguous, (ii) it is answerable from the passage, (iii) its answer is unique (iv) it answer uses text phrases from the passage. Avoid creating questions that (i) can't be answered correctly without actually understanding the passage and (ii) uses the same words or phrases given in the passage.
PROBLEM: Context: TECPR2 was first described as a disease causing gene when the c.3416delT frameshift mutation was found in five Jewish Bukharian patients with similar features. It was suggested to constitute a new subtype of complex hereditary spastic paraparesis (SPG49).', 'We report here 3 additional patients from unrelated non-Bukharian families, harboring two novel mutations (c.1319delT, c.C566T) in this gene. Accumulating clinical data clarifies that in addition to intellectual disability and evolving spasticity the main disabling feature of this unique disorder is autonomic-sensory neuropathy accompanied by chronic respiratory disease and paroxysmal autonomic events.
Answer: We suggest that the disease should therefore be classified as a new subtype of hereditary sensory-autonomic neuropathy. The discovery of additional mutations in non-Bukharian patients implies that this disease might be more common than previously appreciated and should therefore be considered in undiagnosed cases of intellectual disability with autonomic features and respiratory symptoms regardless of demographic origin.

SOLUTION: Do tECPR2 mutations cause a new subtype of familial dysautonomia like hereditary sensory autonomic neuropathy with intellectual disability?

PROBLEM: Context: To conduct clinical and genetic studies in a European family with autosomal dominant Stargardt-like macular dystrophy (adSTGD-like MD) and to investigate the functional consequences of a novel ELOVL4 mutation.', 'Ophthalmic examination and mutation screening by direct sequencing of the ELOVL4 gene was performed in two affected individuals. Wild-type and mutant ELOVL4 genes were expressed as enhanced green fluorescent protein (EGFP) fusion proteins in transient transfection in NIH-3T3 and HEK293 cells. To determine the subcellular localization of ELOVL4, an endoplasmic-reticulum (ER)-specific marker for pDsRed2-ER was cotransfected with ELOVL4 constructs. Transfected cells were viewed by confocal microscopy. Western blot analysis was performed to assess protein expression using an anti-GFP antibody.', 'Affected patients exhibited macular atrophy with surrounding flecks characteristic of adSTGD-like MD. A novel ELOVL4 p.Tyr270X mutation was detected in affected individuals. In cell-transfection studies, wild-type ELOVL4 localized preferentially to the ER. In contrast, the mutant protein appeared to be mislocalized within transfected cells.
Answer: In a European family with adSTGD-like MD, a novel ELOVL4 mutation was found to underlie the disorder. Transfection studies indicated that, unlike wild-type ELOVL4, the mutant protein does not localize to the ER but rather appears to be sequestered elsewhere in an aggregated pattern in the cytoplasm. Further analysis of the function of normal and mutant ELOVL4 will provide insight into the mechanism of macular degeneration.

SOLUTION: Does a novel mutation in the ELOVL4 gene cause autosomal dominant Stargardt-like macular dystrophy?

PROBLEM: Context: Video capsule endoscopy (VCE) is limited by incomplete procedures. There are also contraindications to the standard ingestion of the capsule that require endoscopic placement. Our aim was to compare the study completion rate of VCE after oral ingestion and endoscopic deployment.', 'We performed a review of all VCE from April 2010 through March 2013. Inpatient and outpatient cohorts grouped by the method of capsule delivery were formed and compared. Multivariable logistic regression modeling was utilized adjusting for variables with a P\xa0value ≤\u200a0.1 in group comparisons. Log-rank analysis was used to compare transit times.', 'A total of 687 VCE were performed, including 316 inpatient (36 endoscopic deployment, 280 oral ingestion) and 371 outpatient (20 endoscopic deployment, 351 oral ingestion). For VCE on hospitalized patients, the completion rates were similar after endoscopic deployment and oral ingestion (72\u200a% vs 73\u200a%, P\u200a=\u200a0.94). The completion rates were also similar for ambulatory patients (90\u200a% vs 87\u200a%, P\u200a=\u200a0.69). There remained no difference after multivariable modeling for inpatients (P\u200a=\u200a0.71) and outpatients (P\u200a=\u200a0.46). Total transit times were not significantly different.
Answer: VCE completion rates and total transit times are similar after oral or endoscopic deployment for both hospitalized and ambulatory patients. Endoscopic placement is effective in patients with contraindications to standard oral ingestion, but should otherwise be avoided to limit unnecessary procedural risks and costs.

SOLUTION:
Are video capsule endoscopy completion and total transit times similar with oral or endoscopic delivery?