Background: DHX37 is an autosomal gene responsible for encoding a helicase from the DExD/H-box family that plays an essential role in ribosome biogenesis. Variants in this gene were previously reported in two different phenotypes: neurodevelopmental disorders and disorders/differences of sex development (DSD). Particularly for the DSD group, variants were mainly reported associated with gonadal dysgenesis and testicular regression syndrome.
View Article and Find Full Text PDFThe group of disorders known as 46,XY gonadal dysgenesis (GD) is characterized by anomalies in testis determination, including complete and partial GD (PGD) and testicular regression syndrome (TRS). Several genes are known to be involved in sex development pathways, however approximately 50% of all cases remain elusive. Recent studies have identified variants in , a gene encoding a putative RNA helicase essential in ribosome biogenesis and previously associated with neurodevelopmental disorders, as a cause of PGD and TRS.
View Article and Find Full Text PDFComplement Ther Clin Pract
February 2018
We investigate the effects of a massage therapy program (MTP) in cortisol concentration (CC), intensity of pain, quality of life and perceived stress index of fibromyalgia patients. Volunteers (n = 24, aged 26-55 years) were treated with MT, twice a week for three months. They answered the Fibromyalgia Impact Questionnaire (FIQ), Perceived Stress Questionnaire (PSQ) and McGill Pain Questionnaire (MPQ-Br), and collected saliva to evaluate CC before and after the end of each month.
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