Celik Ottosen (bricksong14)

All patients who benefited from a specific treatment of LVEF-D had a normalization of LVEF at the end of follow-up. LVEF recovery was significantly better for patients treated with angiotensin converting enzyme inhibitors and beta-blockers than those who did not (P = .019). Ophthalmological adverse events were significantly more frequent in patients who experienced a LVEF-D (P = .006) and the latter did not influence overall-survival (P = .117) or progression-free-survival (P = .297). LVEF-D is a common and easily manageable adverse event due to BRAF and MEKis. Its association with ocular toxicity suggests a close ophthalmological monitoring when LVEF-D occurs. © 2020 The Authors. Cancer Medicine published by John Wiley & Sons Ltd.BACKGROUND Chorea-acanthocytosis (ChAc; OMIM #200150) is a rare autosomal recessive condition with onset in early adulthood that is caused by mutations in the vacuolar protein sorting 13A (VPS13A) gene encoding chorein. Several diagnostic genomic DNA (gDNA) sequencing approaches are widely used. However, their limitations appear not to be acknowledged thoroughly enough. METHODS Clinically, we deployed magnetic resonance imaging, blood smear analysis, and clinical chemistry for the index patient's characterization. The molecular analysis of the index patient next to his parents covered genomic DNA (gDNA) sequencing approaches, RNA/cDNA sequencing, and chorein specific Western blot. RESULTS We report a 33-year-old male patient without functional protein due to compound heterozygosity for two VPS13A large deletions of 1168 and 1823 base pairs (bp) affecting, respectively, exons 8 and 9, and exon 13. Temsirolimus supplier To our knowledge, this represents the first ChAc case with two compound heterozygous large deletions identified so far. Of note, standard genomic DNA (gDNA) Sanger sequencing approaches alone yielded false negative findings. CONCLUSION Our case demonstrates the need to carry out detection of chorein in patients suspected of having ChAc as a helpful and potentially decisive tool to establish diagnosis. Furthermore, the course of the molecular analysis in this case discloses diagnostic pitfalls in detecting some variations, such as deletions, using only standard genomic DNA (gDNA) Sanger sequencing approaches and exemplifies alternative methods, such as RNA/cDNA sequencing or qRT-PCR analysis, necessary to avoid false negative results. © 2020 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals, Inc.Eating habits begin forming early in life when parental beliefs and behaviours often play a major role in shaping dietary intake. We aimed to assess maternal beliefs about the cost, social status, and nutritional value of foods in Samoa-a setting with an alarming burden of childhood obesity-and to determine how those beliefs may be related to child dietary intake. Samoan mothers (n = 44) sorted photographs of 26 foods commonly consumed in children in Samoa by cost, social status, and nutritional value (healthfulness). Responses were then assessed for their association with child dietary intake (reported using a food frequency questionnaire) using Pearson correlations. Mothers indicated that traditional Samoan foods were healthier, of higher social status, and lower cost compared with non-traditional/imported food items. Compared with nutritional experts and a market survey of food prices, mothers demonstrated strong nutritional (r = .87, 95% CI [0.68, 0.95], p less then .001) and consumer (r = .84, 95% CI [0.68, 0.93], p less then .001) knowledge. The perceived cost of food was more strongly associated (r = -.37, 95% CI [-0.66, 0.02], p = .06) with child dietary intake than either healthfulness or social status, with decreasing consumption reported with increasing food cost. Our findings contradicted the notion that the high social status of imported foods may be contributing to increased intake and rising prevale