TASK DEFINITION: Given a passage, 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: 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.

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

PROBLEM: Intellectual disability (ID) features in numerous heritable medical conditions that result from ATRX mutations. Alpha-thalassemia mental retardation syndrome (ATR-X syndrome) is the most notable manifestation of ATRX dysfunction. In addition to ID, genitourinary and craniofacial abnormalities are regularly observed with or without alpha-thalassemia.', 'The study sought to characterize two cases of ATR-X in a Yemeni family clinically and molecularly.', 'PCR amplification and Sanger sequencing were used to study the ATRX gene in a Yemeni family. Also, methylation-sensitive PCR was used to perform X-inactivation studies. CADD, SNAP2 and PolyPhen-2 helped to predict the functional consequences of the variant.', 'Molecular testing revealed a novel hemizygous missense mutation (c.5666T>G) in the ATRX gene in the two Yemeni brothers. This mutation was found in a heterozygous state in the mother, with the chromosome harboring the mutated allele being under strongly skewed X-inactivation.

SOLUTION: Does a novel missense mutation in ATRX uncovered in a Yemeni family lead to alpha-thalassemia/mental retardation syndrome without alpha-thalassemia?

PROBLEM: This study evaluated two surgical procedures, total splenectomy and spleen-preserving surgery, for the treatment of spleen cystic echinococcosis (CE).', 'A total of 21 patients who underwent surgery for removal of spleen CE were evaluated retrospectively. Patients were divided into two groups, those who received a total splenectomy (n=7) and those who underwent spleen-preserving surgery (n=14).', 'Total splenectomy surgery took 127.1±11.1min and spleen-preserving surgery took 104.3±25.3min (p<0.05). The length of hospital stay was the same for both patient groups (10.6 days on average). No patient suffered from recurrence during follow-up and all of the patients made a good recovery. No patient developed post-splenectomy sepsis or serious infectious complications. No patient suffered recurrence.

SOLUTION:
Is spleen-preserving surgery effective for the treatment of spleen cystic echinococcosis?