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SHOX Deletion and Idiopathic Short Stature: What Does the Clinician Need to Know? Case Series Report
Diagnostics, 2022 Children diagnosticated with idiopathic short stature (ISS) are probably, in most cases, underdiagnosticated. The genetic causes of ISS may be mutations of genes involved in local regulation of the growth plate or genes involved in the GH-IGF1 axis ...
Maria-Christina Ungureanu +6 more
doaj +1 more source
Short stature and SHOX (Short stature homeobox) variants—efficacy of screening using various strategies [PDF]
PeerJ, 2020 Background SHOX mutations have previously been described as causes of Léri-Weill dyschondrosteosis (LWD), Langer mesomelic dysplasia (LMD), and idiopathic short stature. The loss of X chromosome—Turner syndrome or mosaic 45,X/46,XX or 46,XY—also leads to
Pavlina Capkova +4 more
doaj +2 more sources
Frontiers in Pediatrics, 2022 Children with short stature are frequently referred late to pediatric endocrinologists in the Arabian Gulf region. This is likely a contributing factor to late initiation of treatment despite current evidence suggesting that children with short stature ...
W. Kaplan +10 more
doaj +1 more source
Whole exome sequencing to identify genetic causes of short stature [PDF]
, 2014 BACKGROUND/AIMS: Short stature is a common reason for presentation to pediatric endocrinology clinics. However, for most patients, no cause for the short stature can be identified.
Dauber, Andrew +6 more
core +1 more source
Health disparities in chronic liver disease
Hepatology, EarlyView., 2022 Abstract The syndemic of hazardous alcohol consumption, opioid use, and obesity has led to important changes in liver disease epidemiology that have exacerbated health disparities. Health disparities occur when plausibly avoidable health differences are experienced by socially disadvantaged populations.
Ani Kardashian +3 more
wiley +1 more source
Novel compound heterozygous ASXL3 mutation causing Bainbridge-ropers like syndrome and primary IGF1 deficiency. [PDF]
, 2017 BackgroundDe novo truncating and splicing mutations in the additional sex combs-like 3 (ASXL3) gene have been implicated in the development of Bainbridge-Ropers syndrome (BRPS) characterised by severe developmental delay, feeding problems, short stature ...
Didi, Mohammed +5 more
core +2 more sources
Western Journal of Medicine, 2002 A 12-year-old girl is brought in by her mother, who is concerned because her daughter is short even compared with other family members. She estimates that her daughter has grown less than 3 cm ( 1 in) in the past year andasks if she should receive growth hormone-a treatment that was recently mentioned in a newspaper article. The girl has no significant
Elizabeth J Elliott +2 more
openaire +4 more sources
Evaluation and management of short stature in children
Sri Lanka Journal of Diabetes Endocrinology and Metabolism, 2012 DOI: http://dx.doi.org/10.4038/sjdem.v1i1.4187 Sri Lanka Journal of Diabetes Endocrinology and Metabolism 2011; 1: 30 ...
YAA Jayasena, K Dharshini, KSH de Silva
doaj +1 more source
The Relationship Between Children's Birth Time and Short Stature
Frontiers in Pediatrics, 2022 BackgroundThere are few current reports on the relationship between time of birth and short stature in children. Therefore, we aimed to investigate whether there is an association between time of birth and short stature in children.Materials and ...
Shuo Wang +5 more
doaj +1 more source
Psychometric properties of the Chinese version of the pediatric quality of life inventory 4.0 Generic core scales among children with short stature [PDF]
, 2013 BACKGROUND: The quality of life in children with short stature was rarely studied in China, so we explore these children’s quality of life and psychometric properties of the Chinese version of the Pediatric Quality of Life Inventory 4.0(PedsQL4.0 ...
Hua-hong Wu, Hui Li, Qian Gao
core +1 more source