Results 41 to 50 of about 7,286 (173)

A Leri-Weill dyschondrosteosis patient confirmed by mutation analysis of gene [PDF]

Annals of Pediatric Endocrinology & Metabolism, 2015
Leri-Weill dyschondrosteosis is characterized by SHOX deficiency, Madelung deformity, and mesomelic short stature. In addition, SHOX deficiency is associated with idiopathic short stature, Turner syndrome, and Langer mesomelic dysplasia.
Won Bok Choi, Seung Hyeon Seo, Woo Hyun Yoo, Su Young Kim, Min Jung Kwak   +4 more
doaj   +1 more source

KBG syndrome: A scoping review of electroclinical features of patients with epilepsy

Epileptic Disorders, EarlyView.
Abstract Background and Objectives KBG syndrome is a rare autosomal developmental disorder caused by pathogenic variants of the ANKRD11 gene. This scoping review aimed to explore all current literature data regarding clinical and electroencephalographic features of patients with KBG syndrome and epilepsy. Materials and Methods We conducted a literature
Stefania Kalampokini, Evripidis Pityrigkas, Zoi Kallia, Georgia Pepe, Antonis Frontistis, Dimitrios Profer, Vasilios Kimiskidis   +6 more
wiley   +1 more source

Classification, diagnosis, and treatment of idiopathic short stature

Problems of Endocrinology, 2009
Idiopathic short stature is the low stature in which all possible causes are excluded. The diagnosis and treatment of idiopathic short stature are the subject of constant controversy and discussion. With the expansion of indications for growth hormone therapy for conditions unaccompanied by growth hormone deficiency, there has been recently a challenge
A N, Shandin, V A, Peterkova
openaire   +2 more sources

Orthodontic treatment for a mandibular prognathic girl of short stature under growth hormone therapy

Journal of the Formosan Medical Association, 2013
This report presents a case of a 12-year-old girl with maxillary deficiency, mandibular prognathism, and facial asymmetry, undergoing growth hormone (GH) therapy due to idiopathic short stature.
Chin-Yun Pan, Ting-Hung Lan, Szu-Ting Chou, Yu-Chuan Tseng, Jenny Zwei-Chieng Chang, Hong-Po Chang   +5 more
doaj   +1 more source

Growth hormone therapy response in children with short stature

Egyptian Pediatric Association Gazette, 2023
Background Short stature is one of the main causes of children referral to pediatric endocrinologists. Common etiologies include idiopathic growth hormone deficiency (IGHD), small for gestational age (SGA), and idiopathic short stature (ISS).
Amira Ahmed Gad, Radwa Shamma, Mohamed A. Elmonem, Nora E. Badawi, Lubna Fawaz, Mona Mamdouh Hassan   +5 more
doaj   +1 more source

A Novel Heterozygous ACAN Variant in a Short Patient Born Small for Gestational Age with Recurrent Patellar Dislocation: A Case Report

JCRPE, 2022
ACAN variants can manifest as various clinical features, including short stature, advanced bone age (BA), and skeletal defects. Here, we report rare clinical manifestations of ACAN defects in a 9 year, 5 month-old girl born small for gestational age (SGA)
Su Ji Kim, Jong Seo Yoon, Il Tae Hwang
doaj   +1 more source

Evidence map and gap analysis of metabolic change in pediatric growth hormone deficiency treated with growth hormone

Pediatric Investigation, EarlyView.
This evidence map of 63 studies (n = 6158) showed growth hormone therapy in children with growth hormone deficiency has neutral glucose effects, mixed lipid outcomes, potential benefits for bone mineral density, bone mineral content, and parathyroid hormone, but generally no impact on thyroid function, body composition, or body mass index.
Wei Wu, Ningyi Song, Yue Zhao, Caiqi Du, Yuning Zhao, You Wu, Xiaoping Luo   +6 more
wiley   +1 more source

GSK3α‐mediated regulation of the RNA demethylase fat mass and obesity‐associated protein (FTO) during murine spermatogenesis

The FEBS Journal, EarlyView.
FTO regulates mRNA stability and translational efficiency through its m6A‐demethylation activity. GSK3 functions as an upstream regulator of FTO, leading to its inhibition via phosphorylation. In male germ cells, FTO activity is kept in check by GSK3α.
Neha Choudhari, Budheswar Dehury, Rounak Roy, Radhakrishnan Periyasamy, Indrashis Bhattacharya, Mahesh Sahare, Srinivasan Vijayraghavan, Souvik Dey   +7 more
wiley   +1 more source

Spondylocarpotarsal synostosis syndrome due to a novel loss of function FLNB variant: a case report

BMC Musculoskeletal Disorders, 2021
Background Loss of function or gain of function variants of Filamin B (FLNB) cause recessive or dominant skeletal disorders respectively. Spondylocarpotarsal synostosis syndrome (SCT) is a rare autosomal recessive disorder characterized by short stature,
Samina Yasin, Outi Makitie, Sadaf Naz
doaj   +1 more source

Cumulative effects of lifelong systemic excess growth hormone on postcranial skeletal morphology in adult mice

Journal of Anatomy, EarlyView.
Our μCT‐based pilot study reveals size and shape disparity in the adult postcranial skeleton of growth‐hormone model (bGH) mice relative to wild‐type mice. bGH mice have larger and more sexually dimorphic bones, with a systemic radiodensity increase in bony sesamoids and associated, but typically uncalcified, soft tissues.
Joseph R. Groenke, Huanhuan Liu, Grace Lach, Abhishek Wajpe, Darlene Berryman, John J. Kopchick, Shouan Zhu, Patrick M. O'Connor   +7 more
wiley   +1 more source