Results 31 to 40 of about 3,414,711 (270)

A Case of Growth Hormone Use in Dyggve–Melchior–Clausen Syndrome

Case Reports in Endocrinology, 2022
Short stature has many causes including genetic disease, skeletal dysplasias, endocrinopathies, familial short stature, and nutritional deficiencies.
Ravi Upadhyay, Claire Ruane, Rachel Umans, Beth A. Pletcher, Aditi Khokhar, Kristin Wong   +5 more
doaj   +1 more source

The Effect of The Height of a Second-Degree Relative on Children with Short Stature

Trends in Pediatrics, 2021
Objective: This study aimed to investigate the effect of the heights of second-degree relatives on adult height. Methods: This was a cross-sectional study.
Seda Yilmaz Semerci, Hasan Onal, Neval Topal, Rengin Siraneci   +3 more
doaj   +1 more source

Identification of a heterozygous ACAN mutation in a 15-year-old boy with short stature who presented with advanced bone age: a case report and review of the literature [PDF]

Annals of Pediatric Endocrinology & Metabolism, 2020
Longitudinal bone growth is primarily mediated by the growth plate, which is a specialized cartilaginous structure. Aggrecan, encoded by ACAN, is a primary proteoglycan component of the extracellular matrix in both the growth plate and articular ...
Tae Youp Kim, Kyung Mi Jang, Chang Won Keum, Seung Hwan Oh, Woo Yeong Chung   +4 more
doaj   +1 more source

Identification of a novel variant in the gene using targeted gene panel sequencing in a 24-month-old boy with hypophosphatemic rickets [PDF]

Annals of Pediatric Endocrinology & Metabolism, 2020
Familial hypophosphatemic rickets (FHR) is a disorder characterized by phosphate wasting and hypophosphatemia due to defects in renal phosphate transport regulation. There are 4 known inherited forms of FHR that differ in their molecular causes. Very few
Ha Young Jo, Jung Hyun Shin, Hye Young Kim, Young Mi Kim, Heirim Lee, Mi Hye Bae, Kyung Hee Park, Ja-Hyun Jang, Min Jung Kwak   +8 more
doaj   +1 more source

Identification of a novel heterozygous mutation of the Aggrecan gene in a family with idiopathic short stature and multiple intervertebral disc herniation [PDF]

, 2017
Aggrecan is a critical proteoglycan component of the extracellular matrix of the growth plates and articular cartilage and has a key role in the biophysical and biomechanical properties of cartilage.
Hideo Baba, Hiroyuki Moriuchi, Inoue, Yukiko, Watanabe, Satoshi, Yukiko Inoue, Koh-ichiro Yoshiura, Nakatomi, Akiko, Dateki, Sumito, Akiko Nakatomi, Baba, Hideo, Hitomi Shimizu, Sumito Dateki, Satoshi Watanabe, Yoshiura, Koh-ichiro, Moriuchi, Hiroyuki, Shimizu, Hitomi   +15 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, Marina Serper, Norah Terrault, Lauren D. Nephew   +3 more
wiley   +1 more source

Atypical presentation in patients with 17 α-hydroxylase deficiency caused by a deletion in the CYP17A1 gene: short stature

The Turkish Journal of Pediatrics, 2020
Background. Patients with 17α-hydroxylase deficiency (17 OHD) usually present with tall stature and eunuchoid features, rather than growth retardation. However, unlike the classic form of the disease, short stature due to a lack of pubertal growth
Semih Bolu, Recep Eröz, Mehmet Tekin, Mustafa Doğan   +3 more
doaj   +1 more source

Global perspective of familial hypercholesterolaemia: a cross-sectional study from the EAS Familial Hypercholesterolaemia Studies Collaboration (FHSC)

, 2021
Background: The European Atherosclerosis Society Familial Hypercholesterolaemia Studies Collaboration (FHSC) global registry provides a platform for the global surveillance of familial hypercholesterolaemia through harmonisation and pooling of ...
Borghi C, Biasucci G, EAS Familial Hypercholesterolaemia Studies Collaboration (FHSC)   +2 more
core   +1 more source

Variable expressivity in a family with an aggrecanopathy

Molecular Genetics & Genomic Medicine, 2022
Background Osteochondritis dissecans is a condition wherein there is a subchondral bone lesion that causes pain, inflammation, and cartilage damage. Dominant Familial Osteochondritis Dissecans is a rare and severe form of osteochondritis dissecans (OCD).
Antoine Denis, Sami Chergui, Shuaa Basalom, Philippe M. Campeau, Chantal Janelle, Thierry Pauyo   +5 more
doaj   +1 more source

Frequency of familial short stature identified in children presenting with short stature at a Tertiary Care Hospital in Multan, Pakistan.

The Professional Medical Journal, 2021
Objectives: The objective of my study was to determine the frequency of familial short height in children aged 3 to 14 years with short height. Study Design: Descriptive study. Setting: Department of Pediatric Endocrinology at The Children Hospital & Institute of Child health Multan (CH& ICH).
Waqas Imran Khan, Asia Noreen, Summera Tabasum   +2 more
openaire   +1 more source