14 research outputs found
Inactivating KISS1 mutation and hypogonadotropic hypogonadism
Gonadotropin-releasing hormone (GnRH) is the central regulator of gonadotropins,
which stimulate gonadal function. Hypothalamic neurons that produce kisspeptin
and neurokinin B stimulate GnRH release. Inactivating mutations in the genes encoding
the human kisspeptin receptor (KISS1R, formerly called GPR54), neurokinin
B (TAC3), and the neurokinin B receptor (TACR3) result in pubertal failure. However,
human kisspeptin loss-of-function mutations have not been described, and contradictory
findings have been reported in Kiss1-knockout mice. We describe an inactivating
mutation in KISS1 in a large consanguineous family that results in failure of
pubertal progression, indicating that functional kisspeptin is important for puberty
and reproduction in humans. (Funded by the Scientific and Technological Research
Council of Turkey [TÜBİTAK] and others.)http://www.nejm.org/nf201
Hemorheological and Microcirculatory Relations of Acute Pancreatitis
Acute pancreatitis still means a serious challenge in clinical practice. Its pathomechanism is complex and has yet to be fully elucidated. Rheological properties of blood play an important role in tissue perfusion and show non-specific changes in acute pancreatitis. An increase in blood and plasma viscosity, impairment of red blood cell deformability, and enhanced red blood cell aggregation caused by metabolic, inflammatory, free radical-related changes and mechanical stress contribute to the deterioration of the blood flow in the large vessels and also in the microcirculation. Revealing the significance of these changes in acute pancreatitis may better explain the pathogenesis and optimize the therapy. In this review, we give an overview of the role of impaired microcirculation by changes in hemorheological properties in acute pancreatitis
Inactivating <em>KISS1</em> mutation and hypogonadotropic hypogonadism
Gonadotropin-releasing hormone (GnRH) is the central regulator of gonadotropins, which stimulate gonadal function. Hypothalamic neurons that produce kisspeptin and neurokinin B stimulate GnRH release. Inactivating mutations in the genes encoding the human kisspeptin receptor (KISS1R, formerly called GPR54), neurokinin B (TAC3), and the neurokinin B receptor (TACR3) result in pubertal failure. However, human kisspeptin loss-of-function mutations have not been described, and contradictory findings have been reported in Kiss1-knockout mice. We describe an inactivating mutation in KISS1 in a large consanguineous family that results in failure of pubertal progression, indicating that functional kisspeptin is important for puberty and reproduction in humans