Genetic Insights from Consanguineous Cardiomyopathy Families.

Inherited cardiomyopathies are a prevalent cause of heart failure and sudden cardiac death. Both hypertrophic (HCM) and dilated cardiomyopathy (DCM) are genetically heterogeneous and typically present with an autosomal dominant mode of transmission. Whole exome sequencing and autozygosity mapping was carried out in eight un-related probands from consanguineous Middle Eastern families presenting with HCM/DCM followed by bioinformatic and co-segregation analysis to predict the potential pathogenicity of candidate variants. We identified homozygous missense variants in TNNI3K, DSP, and RBCK1 linked with a dilated phenotype, in NRAP linked with a mixed phenotype of dilated/hypertrophic, and in KLHL24 linked with a mixed phenotype of dilated/hypertrophic and non-compaction features. Co-segregation analysis in family members confirmed autosomal recessive inheritance presenting in early childhood/early adulthood. Our findings add to the mutational spectrum of recessive cardiomyopathies, supporting inclusion of KLHL24, NRAP and RBCK1 as disease-causing genes. We also provide evidence for novel (recessive) modes of inheritance of a well-established gene TNNI3K and expand our knowledge of the clinical heterogeneity of cardiomyopathies. A greater understanding of the genetic causes of recessive cardiomyopathies has major implications for diagnosis and screening, particularly in underrepresented populations, such as those of the Middle East.

Effects of statin therapy on serum trace element status in dyslipidemic patients: results of a randomized placebo-controlled cross-over trial.

BACKGROUND: Statins are widely used in the management of coronary risk because of their efficacy in reducing LDL and their potentially protective pleiotropic effects. Imbalances in the status of trace elements such as zinc (Zn) and copper (Cu) have been reported to be implicated in the pathogenesis of atherosclerosis. The present study investigated the effects of simvastatin on serum Zn, Cu, Zn:Cu ratio, selenium (Se), ceruloplasmin (Cp), and superoxide dismutase (SOD) in dyslipidemic patients. METHODS: Seventy-seven dyslipidemic patients, who were not originally taking lipid lowering agents, were assigned to receive simvastatin (40 mg/day) and placebo in alternate orders in a double-blind cross-over trial for a period of 4 weeks with a 2-week wash-out period. Serum concentrations of Zn, Cu, Se, Cp, and SOD were measured before and after each treatment period. RESULTS: Statistical analysis did not reveal any significant effect of statin therapy on serum concentrations of Zn, Cu, Zn:Cu ratio, Se, Cp, and SOD (p > 0.05). CONCLUSIONS: Four-week treatment with simvastatin (40 mg/day) is not associated with any beneficial or adverse effect on serum trace element (Zn, Cu and Se) status as well as enzymatic activities of Cp and SOD. However, the impacts of statin type as well as treatment dose and duration on these parameters remain to be clarified.

Conceptual Method of Temperature Sensation in Bionic Hand by Extraordinary Perceptual Phenomenon.

Lack of temperature sensation of myoelectric prosthetic hand limits the daily activities of amputees. To this end, a non-invasive temperature sensation method is proposed to train amputees to sense temperature with psychophysical sensory substitution. In this study, 22 healthy participants took part besides 5 amputee participants. The duration time of the study was 31 days with five test steps according to the Leitner technique. An adjustable temperature mug and a Peltier were used to change the temperature of the water/phantom digits to induce temperature to participants. Also, to isolate the surroundings and show colors, a Virtual Reality (VR) glass was employed. The statistical results conducted are based on the response of participants with questionnaire method. Using Chi-square tests, it is concluded that participants answer the experiment significantly correctly using the Leitner technique (P value < 0.05). Also, by applying the "Repeated Measures ANOVA", it is noticed that the time of numbness felt by participants had significant (P value < 0.001) difference. Participants could remember lowest and highest temperatures significantly better than other temperatures (P value < 0.001); furthermore, the well-trained amputee participant practically using the prosthesis with 72.58% could identify object's temperature with only once time experimenting the color temperature.