Results 31 to 40 of about 13,654 (259)
Chronic idiopathic hyperphosphatasia with unusual dental findings: a case report [PDF]
, 2012 Chronic idiopathic hyperphosphatasia(CIH) or juvenile Paget disease is believed to be a distinct disease characterized by an increase in the serum alkaline phosphatase, cortical thickening and bowing of the long bones, especially the femora. It is a rare
Gopakumar, Nair +2 more
core +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
Evaluation of the American-English Quality of Life in Short Stature Youth (QoLISSY) questionnaire in the United States. [PDF]
, 2015 BACKGROUND: The European Quality of Life in Short Stature Youth (QoLISSY) is a novel condition-specific instrument developed to assess health related quality of life (HrQoL) in children/adolescents with short stature from patient and parent perspectives.
Bullinger, Monika +9 more
core +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
A SHOX géndeletio előfordulása idiopathiás alacsonynövésben [PDF]
, 2017 INTRODUCTION: The isolated haploinsufficiency of the SHOX gene is one of the most common cause of short stature determined by monogenic mutations. The heterozygous deviation of the gene can be detected in 2-15% of patients with idiopathic short stature (
Bertalan R +16 more
core +2 more sources
The measurement of health-related quality of life (QOL) in paediatric clinical trials: a systematic review [PDF]
, 2004 Background The goal of much care in chronic childhood illness is to improve quality of life (QOL). However, surveys suggest QOL measures are not routinely included.
Clarke, S., Eiser, C.
core +3 more sources
Impact of short stature on quality of life: A systematic literature review [PDF]
, 2021 Objective: We sought to obtain a better understanding of the burden of short stature using a systematic literature review. Methods: Studies of the burden of short stature, of any cause in adults and children, were searched using Embase, MEDLINE and ...
Backeljauw, P +7 more
core
Balanced assessment of growth disorders using clinical, endocrinological, and genetic approaches [PDF]
Annals of Pediatric Endocrinology & Metabolism, 2021 Determining the pathogenesis of pediatric growth disorders is often challenging. In many cases, no pathogenesis is identified, and a designation of idiopathic short stature is used.
Martin Oswald Savage, Helen Louise Storr
doaj +1 more source
Clinics, 2016 OBJECTIVES: To establish cut-off values for growth hormone concentrations using clonidine as a secretagogue and an immunochemiluminescent assay as the method of measurement and to analyze the response time as well as the influence of gender, nutritional ...
Maria de Fátima Borges +8 more
doaj +1 more source
GENETIC FEATURES OF CHILDREN WITH IDIOPATHIC SHORT STATURE
Wiadomości Lekarskie, 2023 The aim: To investigate the clinical and genetic characteristics of children with idiopathic short stature, taking into account the polymorphism of the vitamin D receptor (VDR) BsmI gene. Materials and methods: Eighteen children diagnosed with of idiopathic short stature who were treated at the State Institution «V.P.
Mariana, Ryznychuk +4 more
openaire +2 more sources