Characterization of a novel HESX1 mutation in a pediatric case of septo-optic dysplasia [PDF]
, 2017 Septo‐optic dysplasia (SOD) is a rare condition for which the precise etiology is still unclear. Elucidating the genetic component of SOD is a difficult but necessary task for the future.
Martinez-Barbera, J, Pozzi, S, Tan, W-H
core +1 more source
International Journal of Endocrinology, 2017 There are only a few published studies related to the population-based etiology of hypopituitarism. New risks for developing hypopituitarism have been recognized in the last 10 years. Aim.
M. Doknić +6 more
doaj +1 more source
A discrete event system specification (DEVS)-based model of consanguinity [PDF]
Journal of theoretical biology, 285(1), 103-112 (2011), 2017 Consanguinity or inter-cousin marriage is a phenomenon quite prevalent in certain regions around the globe. Consanguineous parents have a higher risk of having offspring with congenital disorders. It is difficult to model large scale consanguineous parental populations because of disparate cultural issues unique to regions and cultures across the globe.
arxiv +1 more source
Glycometabolic Alterations in Secondary Adrenal Insufficiency: Does Replacement Therapy Play a Role? [PDF]
, 2018 Secondary adrenal insufficiency (SAI) is a potentially life-threatening endocrine disorder due to an impairment of corticotropin (ACTH) secretion from any process affecting the hypothalamus or pituitary gland.
Gianfrilli, Daniele +5 more
core +2 more sources
Advances in understanding hypopituitarism [version 1; referees: 2 approved]
F1000Research, 2017 The understanding of hypopituitarism has increased over the last three years. This review provides an overview of the most important recent findings. Most of the recent research in hypopituitarism has focused on genetics.
Mareike R. Stieg +3 more
doaj +1 more source
A link between solar events and congenital malformations: Is ionizing radiation enough to explain it? [PDF]
Journal of Geophysical Research: Space Physics 120.3, 1537-1542
(2015), 2015 Cosmic rays are known to cause biological effects directly and through ionizing radiation produced by their secondaries. These effects have been detected in airline crews and other specific cases where members of the population are exposed to above average secondary fluxes.
arxiv +1 more source
Growth hormone deficiency during young adulthood and the benefits of growth hormone replacement [PDF]
, 2016 Until quite recently, the management of children with growth hormone deficiency (GHD) had focussed on the use of recombinant human GH (rhGH) therapy to normalise final adult height.
Ahmed, S.F. +3 more
core +2 more sources
Genome-wide methylation study of whole blood cells DNA in men with congenital hypopituitarism disease. [PDF]
Int J Mol Med, 2019 Fang X +5 more
europepmc +3 more sources
A new familial form of a late-onset, persistent hyperinsulinemic hypoglycemia of infancy caused by a novel mutation in KCNJ11. [PDF]
, 2017 The ATP-sensitive potassium channel (KATP) functions as a metabo-electric transducer in regulating insulin secretion from pancreatic β-cells. The pancreatic KATP channel is composed of a pore-forming inwardly-rectifying potassium channel, Kir6.2, and a ...
Ferrara, Christine +5 more
core +1 more source
Adrenal crises: perspectives and research directions [PDF]
, 2017 Adrenal crises (AC) are life-threatening complications of adrenal insufficiency (AI). These events have an estimated incidence of between 5 and 10 ACs/100 patient years (PY) and are responsible for some of the increased morbidity and excess mortality ...
Falhammar, H, Rushworth, R, Torpy, D
core +2 more sources