Results 51 to 60 of about 7,286 (173)

Healthy short stature [PDF]

Archives of Endocrinology and Metabolism
Idiopathicshort stature (ISS) has been used for more than five decades to label children whose height is below -2 SDS without an identified underlying cause.
Alexander A. L. Jorge, Paulo F. Collett-Solberg, Margaret C. S. Boguszewski   +2 more
doaj   +2 more sources

저신장 소아청소년의 임상적 접근

The Ewha Medical Journal, 2021
Growth represents a sentinel for general health state in children and adolescent. Linear growth in children and adolescent is a complex process influenced by numerous factors including genetic, prenatal, postnatal, and environmental factors.

doaj   +1 more source

Hyper‐buoyancy flotation increases cervical disc height and reduces vertebral stiffness, with only partial reversal after acute 1 g axial loading

Experimental Physiology, EarlyView.
Abstract Exposure to microgravity is associated with stature increases, moderate‐to‐severe back/neck pain and elevated lumbar and cervical intervertebral disc (IVD) herniation risk post‐flight. Whilst lumbar pathophysiology has been investigated, little attention has been placed on the cervical spine.
D. Marcos‐Lorenzo, P. Hernández Bernal, R. Fernández Corujo, A. Gil Martínez, J. Swanenburg, D. A. Green   +5 more
wiley   +1 more source

Children With Short Stature Display Reduced ACE2 Expression in Peripheral Blood Mononuclear Cells

Frontiers in Endocrinology, 2022
BackgroundThe cause of short stature remains often unknown. The renin-angiotensin system contributes to growth regulation. Several groups reported that angiotensin-converting enzyme 2 (ACE2)-knockout mice weighed less than controls.
Federica Tonon, Gianluca Tornese, Fabiola Giudici, Francesca Nicolardi, Barbara Toffoli, Egidio Barbi, Egidio Barbi, Bruno Fabris, Bruno Fabris, Stella Bernardi, Stella Bernardi   +10 more
doaj   +1 more source

Growth Hormone Treatment Response and Machine Learning‐Based Prediction in Idiopathic GHD and ISS: Analysis of the Korean LG Growth Study

Clinical Endocrinology, Volume 105, Issue 3, Page 322-330, September 2026.
ABSTRACT Objective Individual responses to recombinant human growth hormone (rhGH) therapy vary widely among children with idiopathic growth hormone deficiency (iGHD) and idiopathic short stature (ISS), making accurate prediction of treatment outcomes clinically important.
Jisun Park, Eun Young Joo, Su Jin Kim, Myung Ji Yoo, Ji Eun Lee   +4 more
wiley   +1 more source

Clinical and Radiological Features Suggestive of Mucopolysaccharidosis in Two Siblings From Sudan: A Case Series

Clinical Case Reports, Volume 14, Issue 8, August 2026.
ABSTRACT Mucopolysaccharidosis should be suspected in patients presenting with multisystem involvement, including coarse facial features, skeletal abnormalities, and progressive organ dysfunction, particularly in resource‐limited settings where delayed diagnosis is common.
Alaa Bella, Mumen Abdalazim Dafallah, Ashraf Yousif Fadlalla, Bothaina Faisal Elmardi, Yomna Mohialdin Alataya, Abdalla Abdelmahmoud Abdalla, Mohammed Almeldin Ahmed Ibrahim, Mawada Faisal Nugud, Salah Elamin Ahmed Babiker, Hiba faroug Al_amin, Safaa Ayoub Yousif Mohammed, Moawia Elbalal Mohammed   +11 more
wiley   +1 more source

Genotypic and Phenotypic Profile of 50 Cases With Chromatin Remodeling Complexes‐Related Neurological Disorders

CNS Neuroscience &Therapeutics, Volume 32, Issue 8, August 2026.
CRC‐related neurological disorders are mainly caused by variants in the CHD and BAF complex. The predominant phenotypes of CRC‐related neurological disorders were GDD/ID and epilepsy. Variants in the CHD and BAF complexes have different phenotypes.
Shimeng Chen, Fei Yin, Fang He, Ciliu Zhang, Xiaolu Deng, Lifen Yang, Li Yang, Chen Chen, Fangyun Liu, Jing Peng   +9 more
wiley   +1 more source

Diagnosis of Growth Hormone Deficiency in Children: Comparative Performance of Arginine Versus Glucagon as the First Stimulation Test

Clinical Endocrinology, Volume 105, Issue 2, Page 213-219, August 2026.
ABSTRACT Objective Growth hormone deficiency (GHD) diagnosis typically requires the performance of two sequential stimulation tests. Glucagon stimulation test (GST) and arginine stimulation test (AST) are widely used. This study aimed to determine the most suitable order of tests.
David Shaki, Daria Shvarts, Eli Hershkovitz, Lior Carmon, Hazan Guy, Bachar Yoav, Alon Haim   +6 more
wiley   +1 more source

Centriolar Protein POC5 Regulates Human Adipogenesis and Cellular Senescence: Insights From a Novel Metabolic Ciliopathy

The FASEB Journal, Volume 40, Issue 14, 31 July 2026.
The identification of a patient carrying a novel homozygous p.(Gln206Ter) POC5 variant revealed a metabolic phenotype associated with POC5 deficiency. POC5 deficiency disrupts centriolar architecture and ciliary organization, leading to impaired proliferation, premature cellular senescence, and reduced insulin signaling.
Valeria Pistorio, Camille Vatier, Émilie Capel, Carine Beaupère, Martine Auclair, Virginie Steunou, Romain Morichon, Michael Joubert, Corinne Vigouroux, Jérémie Gautheron, Isabelle Jéru   +10 more
wiley   +1 more source

Thoracic Aortic Dissection in a Patient With Classical Homocystinuria: Implications for Aortic Surveillance

JIMD Reports, Volume 67, Issue 4, July 2026.
ABSTRACT Classical homocystinuria (OMIM #236300), a rare inherited metabolic disorder caused by cystathionine beta‐synthase (CBS) deficiency, is characterized by markedly elevated homocysteine levels and associated multisystem complications. While the role of homocystinuria in venous thromboembolism is well recognized, there is limited evidence of ...
Marisa Chard, Jasmin Simi Zhang, Lesley Turner   +2 more
wiley   +1 more source