Results 141 to 150 of about 4,480,801 (360)

Case series: Joubert syndrome and eosinophilic esophagitis

JPGN Reports, EarlyView.
Abstract Joubert syndrome (JS) is a rare genetic disorder characterized by developmental abnormalities, particularly in the brainstem and cerebellar vermis, alongside multisystem manifestations such as kidney and liver anomalies, polydactyly, cleft lip or palate, and tongue defects.
Jonathon Schening, Stephanie Leon‐Paredes, Eric Chiou, Vibha Szafron, Anthony Olive, Sara Anvari   +5 more
wiley   +1 more source

Body Composition Changes and Catch-up Growth in Pre-pubertal Children with Short Stature: A Longitudinal Retrospective Cross-sectional Cohort Study

JCRPE
Objective: Predicting whether children with pre-pubertal short stature will achieve catch-up growth to a normal height or remain short remains a clinical challenge.
Dohyun Chun, Seo Jung Kim, Junghwan Suh, Jihun Kim   +3 more
doaj   +1 more source

Infantile exocrine pancreatic insufficiency due to a homozygous SPINK1 pathogenic variant in two siblings: A case report

JPGN Reports, EarlyView.
Abstract Infantile exocrine pancreatic insufficiency is a rare condition, most often encountered in the context of cystic fibrosis or Shwachman–Diamond syndrome. The SPINK1 gene encodes a trypsin inhibitor protein that prevents the premature activation of digestive enzymes in pancreatic tissue.
France Chalon, Angélique Lhomme, Marie Léonard, Laura Zambelli, Serpil Alkan, Corinne Fasquelle, Aimé Lumaka, Guillaume Debray, Vincent Bours, Julie Frère, Emeline Bequet   +10 more
wiley   +1 more source

The Prevalence and Determinants of Short Stature in HIV-Infected Children

Journal of the International Association of Providers of AIDS Care, 2014
Background: Children with HIV infection are often reported to be short. The aim of this study was to assess the prevalence of HIV-associated short stature in HIV endemic setting.
Dipesalema R. Joel MBBCh, BAO, BMedSc, MRCPI, Vincent Mabikwa BA, MA, Jerry Makhanda BSc, MSc, Michael A. Tolle MD, MPH, Gabriel M. Anabwani MBChB, MMed, MSCE, FRCPE, Syed Faisal Ahmed MD, FRCPCH   +5 more
doaj   +1 more source

Evaluation and optimal utilisation of the international linear type classification schemes [PDF]

, 2007
End of project reportThe authors would like to acknowledge the Irish Cattle Breeding Federation for access to their excellent database for use in this study and to the Irish Holstein-Friesian Association for financial support of this studyThe main ...
Berry, Donagh
core  

Machine Learning Prediction of Raster Angle Effects on Mechanical Properties of Extrusion‐Based Additively Manufactured Conductive Thermoplastic Polyurethane Composites

Macromolecular Materials and Engineering, EarlyView.
This study integrates machine learning (ML) and high‐fidelity experiments to model how raster angle influences the mechanical properties of fused filament fabricated conductive TPU composites. Using Poly6 and SVR models, the approach accurately predicts stiffness, strength, and ductility.
Imran Khan, Ans Al Rashid, Muammer Koç
wiley   +1 more source

Progress in Clinical Diagnosis and Management of Short Stature in Ehlers-Danlos Syndromes

Xiehe Yixue Zazhi
Ehlers-Danlos syndromes (EDS) are a group of rare hereditary connective tissue disorders characterized by joint hypermobility, skin hyperextensibility, and tissue fragility.
XU Kexin, LI Guozhuang, WU Zhihong, ZHANG Jianguo, DISCO(Deciphering Disorders Involving Scoliosis & Comorbidities) Study Group, WU Nan   +5 more
doaj   +1 more source

Indices of auxological development in diagnosing children with short stature and monitoring the therapy effectiveness [PDF]

, 2013
Joanna Smyczyńska, Andrzej Lewiñski
openalex   +1 more source

Caloric restriction‐mediated reproductive lifespan extension across multiple strains of the clonal aquatic plant Lemna turionifera

Oikos, EarlyView.
Lifespan extension due to caloric restriction (CR) is a well‐established aspect of animal senescence that has been observed in many taxa. Contrastingly, there is much less evidence in plants, even though it is straightforward to manipulate CR by restricting photosynthesis through reduction in light intensity.
Julian A. Ketler, Nicola M. Herman, Suzanne L. Chmilar, Robert A. Laird   +3 more
wiley   +1 more source

Molecular diagnosis of patients with syndromic short stature identified by trio whole-exome sequencing

Frontiers in Genetics
BackgroundShort stature is a complex disorder with phenotypic and genetic heterogeneity. This study aimed to investigate clinical phenotypes and molecular basis of a cohort of patients with short stature.MethodsTrio whole-exome sequencing (Trio-WES) was ...
Huihui Sun, Geng Zhang, Na Li, Xiangfang Bu   +3 more
doaj   +1 more source