The infertility of many couples rests on an enigmatic dysfunction of the man's sperm. To gain insight into the underlying pathomechanisms, we assessed the function of the sperm-specific multisubunit CatSper-channel complex in the sperm of almost 2,300 men undergoing a fertility workup, using a simple motility-based test. We identified a group of men with normal semen parameters but defective CatSper function.
View Article and Find Full Text PDFObjectives: Professional singers' careers are usually associated with health-relevant factors that they themselves may or may not be able to influence. We have therefore investigated the effect of modifiable health-related behaviors and non-modifiable factors on singers' occupational health.
Methods: In an explorative, questionnaire-based study, self-reported, occupationally relevant health complaints and behaviors, along with singer-specific characteristics, were surveyed from 349 professional singers and voice teachers (116 men, 233 women; age 18-73 years) and the influence of age, gender, duration of daily and lifelong singing, voice category, and health-related behaviors (smoking, alcohol consumption, physical activity) on occupationally relevant health complaints were analyzed using bi- and multivariate statistical methods.
In children with cancer, the heterogeneity in ototoxicity occurrence after similar treatment suggests a role for genetic susceptibility. Using a genome-wide association study (GWAS) approach, we identified a genetic variant in TCERG1L (rs893507) to be associated with hearing loss in 390 non-cranial irradiated, cisplatin-treated children with cancer. These results were replicated in two independent, similarly treated cohorts (n = 192 and 188, respectively) (combined cohort: P = 5.
View Article and Find Full Text PDFGenetic association studies suggest a genetic predisposition for cisplatin-induced ototoxicity. Among other candidate genes, thiopurine methyltransferase () is considered a critical gene for susceptibility to cisplatin-induced hearing loss in a pharmacogenetic guideline. The PanCareLIFE cross-sectional cohort study evaluated the genetic associations in a large pan-European population and assessed the diagnostic accuracy of the genetic markers.
View Article and Find Full Text PDFBackground: Irreversible sensorineural hearing loss is a common side effect of platinum treatment with the potential to significantly impair the neurocognitive, social and educational development of childhood cancer survivors. Genetic association studies suggest a genetic predisposition for cisplatin-induced ototoxicity. Among other candidate genes, thiopurine methyltransferase (TPMT) is considered a critical gene for susceptibility to cisplatin-induced hearing loss in a pharmacogenetic guideline.
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