The majority of pituitary adenomas occur in a sporadic context, and in the absence of known genetic predisposition. Three common variants at the NEBL (rs2359536), PCDH15 (rs10763170) and CDK8 (rs17083838) loci were previously associated with sporadic pituitary adenomas in the Han Chinese population, but these findings have not yet been replicated in any other population. The aim of this case-control study was t...
Congenital hypogonadotropic hypogonadism (CHH) is characterized by lack of normal pubertal development due to deficient gonadotropin-releasing hormone (GnRH) secretion or action, and is caused by genetic defects in several genes. Mutations in the CHD7 gene cause CHARGE syndrome (Coloboma of the eye, Heart defects, Atresia of the choanae, Retardation of growth and development, Genital hypoplasia and Ear abnormal...
The most common implant options for the metacarpophalangeal joint arthroplasty include silicone, pyrocarbon and metal-polyethylene. A systematic review of outcomes of silicone and pyrocarbon implants was conducted; however, a similar exercise for metal-polyethylene implants revealed a scarcity of published results and lack of long-term follow-up studies. The aim of the present work is to test the hypothesis tha...
Congenital hypogonadotropic hypogonadism (CHH) is characterized by lack of normal pubertal development due to deficient gonadotropin-releasing hormone (GnRH) secretion or action, and is caused by genetic defects in several genes. Mutations in the CHD7 gene cause CHARGE syndrome (Coloboma of the eye, Heart defects, Atresia of the choanae, Retardation of growth and development, Genital hypoplasia and Ear abnormal...
RCK domains regulate the activity of K+ channels and transporters in eukaryotic and prokaryotic organisms by responding to ions or nucleotides. The mechanisms of RCK activation by Ca2+ in the eukaryotic BK and bacterial MthK K+ channels are well understood. However, the molecular details of activation in nucleotide-dependent RCK domains are not clear. Through a functional and structural analysis of the mechanis...
The Osgood-Schlatter syndrome (OSS) is characterized by partial separation between tibial epiphysis and the anterior tibial tuberosity ossification center, establishing itself as the most common origin of morbidity localized to the knee during adolescence. It is characterized by its particular frequency in males aged between 12 and 15 years and physical exercise practitioners. This condition is self-limited, wi...
The success of joint replacement surgery has been responsible for raising patients' expectations regarding the procedure. Many of these procedures are currently designed not only to relive the pain caused by arthrosis, but also to enable patients to achieve functional recovery and to engage in some degree of physical activity and sports. However, as physical exercise causes an increase in forces exercised throu...