ZDHHC9 X-linked intellectual disability: Clinical and molecular characterization.

The ZDHHC9 gene encodes the Zinc Finger DHHC-Type Containing 9 protein that functions as a palmitoyltransferase. Variants in this gene have been reported as the cause of Raymond-type X-linked intellectual disability with only 16 families described in the literature. This study reviews molecular and clinical data from previously reported patients and reports the case of a 13-year-old patient with a splicing variant in ZDHHC9 presenting intellectual disability, developmental delay, facial dysmorphisms, and skeletal defects.

Sprint and endurance training in relation to redox balance, inflammatory status and biomarkers of aging in master athletes.

Purpose: Studies have shown a positive influence of intense athletic training on several biomarkers of aging, but it remains unclear whether this influence is dependent of exercise-training-mode. This study compared redox balance, cytokine levels and biomarkers of aging between master sprinters and endurance athletes, as well as in young and middle-aged individuals as controls.

Methods: Participants were male master sprinters (SA, 50 ± 8.

Dento-osseous anomalies in patients with familial adenomatous polyposis: A follow-up study.

Objective: The aim of this longitudinal study was to characterize the dento-osseous phenotype of eleven familial adenomatous polyposis (FAP) patients and twenty-two family members from four Brazilian families who were followed over nine years and to investigate adenomatous polyposis coli (APC) gene variants using a targeted next-generation sequencing approach.

Materials And Methods: Medical and dental history, oral examination, and panoramic radiography were performed to diagnose and follow up the dento-osseous anomalies. The anomalies were evaluated following the validated diagnostic tool dental panoramic radiographic score (DPRS), a system developed for high-risk FAP patients.

Leukocyte telomere length correlates with glucose control in adults with recently diagnosed type 2 diabetes.

Aims: We investigated leukocyte relative telomere length (TL) in patients with type 2 diabetes (T2D) diagnosed for no longer than five years and its association with clinical and biochemical variables.

Methods: Peripheral blood leukocyte relative TL was investigated in 108 patients with T2D (87 women, 21 men) and 125 (37 women, 88 men) age-matched control subjects with normal glucose tolerance, by quantitative polymerase chain reaction. Multiple linear regression analysis was used to examine the association between relative TL and demographic, anthropometric and biochemical indicators of metabolic control among patients with T2D.

Longer Telomere Length in Elite Master Sprinters: Relationship to Performance and Body Composition.

Emergent evidence suggests that the long-term healthy lifestyle of master athletes may attenuate aging. We compared telomere length (TL) of high-level master sprinters and non-athlete age-matched controls, and analyzed the relationships of TL with performance and body fat. Elite master sprinters (n=11; aged 50.

Prevalence of the rs1801282 single nucleotide polymorphism of the PPARG gene in patients with metabolic syndrome.

Objective: This study aimed to get the genotypic and allelic frequencies of rs1801282 in 179 volunteer donors and 154 patients with Metabolic syndrome (MetS) in Brasilia, Brazil and also examine the association with anthropometric, biochemical and hemodynamic variables in the latter group. MetS comprises a group of diseases resulting from insulin resistance, in-creased risk of type 2 diabetes and atherosclerotic cardiovascular disease. MetS is defined by the presence of increased visceral fat, atherogenic dyslipidemia (elevated triglycerides (TGL)), with decreased high density lipoprotein (HDL) and increased low density lipoprotein (LDL) levels, hypertension (BPH) and disturbances in glucose homeostasis representing a significant burden across the world due to the alarming increase in the incidence over the last decades besides their significant morbidity and mortality.