Background: Recombinant human growth hormone (rhGH) is licensed for short stature associated with growth hormone deficiency (GHD), Turner syndrome (TS), Prader–Willi syndrome (PWS), chronic renal insufficiency (CRI), short stature homeobox-containing ...
A Takeda+7 more
doaj +2 more sources
Genetics of Growth Disorders-Which Patients Require Genetic Testing? [PDF]
The second 360° European Meeting on Growth Hormone Disorders, held in Barcelona, Spain, in June 2017, included a session entitled Pragmatism vs. Curiosity in Genetic Diagnosis of Growth Disorders, which examined current concepts of genetics and growth in
Argente J+3 more
europepmc +2 more sources
Screening for Growth Disorders [PDF]
L D Voss+3 more
openaire +3 more sources
The growth hormone-insulin-like growth factor-I axis in the diagnosis and treatment of growth disorders. [PDF]
The growth hormone (GH)–insulin-like growth factor (IGF)-I axis is a key endocrine mechanism regulating linear growth in children. While paediatricians have a good knowledge of GH secretion and assessment, understanding and use of measurements of the ...
Blum WF+6 more
europepmc +2 more sources
Tissue-specific and mosaic imprinting defects underlie opposite congenital growth disorders in mice. [PDF]
Differential DNA methylation defects of H19/IGF2 are associated with congenital growth disorders characterized by opposite clinical pictures. Due to structural differences between human and mouse, the mechanisms by which mutations of the H19/IGF2 ...
Freschi A+12 more
europepmc +2 more sources
Adherence and long-term growth outcomes: results from the easypod™ connect observational study (ECOS) in paediatric patients with growth disorders. [PDF]
Objective The easypod connect observational study (ECOS) assessed treatment adherence among paediatric patients receiving growth hormone (GH) via the easypod electronic injection device.
Koledova E+3 more
europepmc +2 more sources
Insulin-like growth factor axis in pregnancies affected by fetal growth disorders. [PDF]
BackgroundInsulin-like growth factors 1 and 2 (IGF1 and IGF2) and their binding proteins (IGFBPs) are expressed in the placenta and known to regulate fetal growth.
Nawathe AR+5 more
europepmc +2 more sources
A clinical review on megalencephaly: A large brain as a possible sign of cerebral impairment. [PDF]
Megalencephaly and macrocephaly present with a head circumference measurement 2 standard deviations above the age-related mean. However, even if pathologic events resulting in both megalencephaly and macrocephaly may coexist, a distinction between these ...
Corsello G+6 more
core +1 more source
Background The nucleotide-binding oligomeric domain (NOD)-like receptor protein 3 (NLRP3) inflammasome is believed to be a key mediator of neuroinflammation and subsequent secondary brain injury induced by ischemic stroke.
Yuxin Chen+9 more
doaj +1 more source
Genetically engineered mesenchymal stem cells as a proposed therapeutic for Huntington's disease. [PDF]
There is much interest in the use of mesenchymal stem cells/marrow stromal cells (MSC) to treat neurodegenerative disorders, in particular those that are fatal and difficult to treat, such as Huntington's disease.
Annett, Geralyn+14 more
core +3 more sources