Results 81 to 90 of about 14,022 (262)

Updated ERNICA guidelines for the management of rectosigmoid Hirschsprung's disease 2025

Journal of Pediatric Gastroenterology and Nutrition, EarlyView.
Abstract Objectives To revise the 2018 European Reference Network for rare Inherited and Congenital Digestive and Gastrointestinal Anomalies (ERNICA) clinical guideline for the management of rectosigmoid Hirschsprung's disease (HSCR) based on new evidence and evolving clinical priorities, ensuring continued relevance, trustworthiness, and consistency ...
Daniel Rossi, Willemijn Irvine, Anna Löf Granström, Annika Mutanen, Roel Bakx, Kristin Bjørnland, Duccio Cavalieri, Piotr Czauderna, Anne Dariel, Mark Ellebæk, Francesco Fascetti Leon, Fabio Fusaro, Dirk‐Jan Gloudemans, Marietta Jank, Peter Kolja Kvist, Martin Lacher, Annette Lemli, Lucas Matthyssens, Louise Montalva, Pedro Palazon, Alessio Pini Prato, Lucie Pos, Roxana Rassouli‐Kirchmeier, Konrad Reinshagen, Nagoud Schukfeh, Rony Sfeir, Olivia Spivack, Pernilla Stenström, Lovisa Telborn, Eelke Toxopeus, Alejandra Vilanova, Miriam Wilms, Rene Wijnen, Cornelius E. J. Sloots, Mikko Pakarinen, Tomas Wester   +35 more
wiley   +1 more source

The Origin of Pediatric Hand Molds and Proof of Concept

Plastic and Reconstructive Surgery, Global Open
Background:. The art of casting and creating molds of the hands for teaching anatomy and strategic planning was introduced by Dr. Adrian Flatt and later modified by Dr. Joseph Upton.
Joseph Upton, MD, Kimberly S. Khouri, MD
doaj   +1 more source

Early Acitretin Therapy in a Patient With Harlequin Ichthyosis

JEADV Clinical Practice, EarlyView.
ABSTRACT Harlequin ichthyosis (HI) is a rare, severe congenital disorder of keratinization caused by pathogenic variants in the ABCA12 gene resulting in thick, hyperkeratotic plates, deep fissures, and characteristic facial and limb abnormalities.
Orasa Sukmark, Parith Wongkittichote, Sanchawan Wittayakornrerk   +2 more
wiley   +1 more source

A star in the daylight clinical vignette: Lesional focal epilepsy with cerebral accessory falx

Epileptic Disorders, EarlyView.
Kyle McGrath, Joel Kaye, John Paul Sheehy, Heather Ravvin McKee   +3 more
wiley   +1 more source

Data‐Driven Insights into Hyperkinetic Disorders in Neurodevelopmental Syndromes and Epileptic Encephalopathies

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Childhood‐onset hyperkinetic movement disorders occur in a range of genetic conditions. Recently, there has been an increase in recognition of hyperkinetic movement disorders, mainly dystonia, chorea and dyskinesia, with monogenic conditions associated with neurodevelopmental delay (NDD) and also with developmental and epileptic ...
Hugo Morales‐Briceño, Shekeeb S. Mohammad, Rajeshwar Reddy Angiti, Velda Han, Michel Tchan, Russell C. Dale, Victor S.C. Fung   +6 more
wiley   +1 more source

Missense Variants in the A Isoform of FGF13 as a Novel Cause of Paroxysmal Dyskinesia

Movement Disorders, EarlyView.
Abstract Background Pathogenic variants within the unique N‐terminal inactivation particle of FGF13 isoform A (FGF13A) have so far been associated only with an X‐linked dominant epileptic encephalopathy (DEE). Objective The aim was to expand the clinical and molecular spectrum of FGF13A‐related disorder.
Cyril Mignot, Matthildi Athina Papathanasiou Terzi, Claudia Ravelli, Elisabeth Bosch, Xueqin Lin, Adeline Trauffler, Roseline Caumes, Andrew E. Fry, Clementine Fort, Gaelle Gauthe, Regina Trollmann, Thomas Wirth, Mathieu Anheim, Aurélie Méneret, Emmanuel Roze, Jean‐Madeleine de Sainte Agathe, Hailan He, Eleni Panagiotakaki, Gaëtan Lesca, André Reis, Diane Doummar, Thomas Smol, Georgia Vasileiou   +22 more
wiley   +1 more source

Respiratory profile of pediatric patients undergoing hematopoietic stem cell transplantation studied by oscillometry – A TRANSPIRE cohort

Pediatric Investigation, EarlyView.
These are results from a multi‐center collaboration between four large pediatric institutions, investigating baseline respiratory system function in a cohort of children undergoing hematopoietic stem cell transplantation. This manuscript proposes respiratory oscillometry as a novel way to prospectively follow lung function in these children.
Maureen B. Parenti, Julian Allen, Lisa R. Young, Heather Boas, Jason Freedman, Christopher Towe, Jane Koo, Kasiani Myers, Jason C. Woods, Adam Lane, Jonathan Gaffin, Wai Wong, Leslie Lehmann, Fernando Urrego, Gabriel Salinas Cisneros, Matthew F. Abts, K. Scott Baker, Manuel Silva‐Carmona, Erin Doherty, Paul D. Robinson, Margaret MacMillan, Stella M. Davies, Samuel B. Goldfarb   +22 more
wiley   +1 more source

Clinical periodontal diagnosis

Periodontology 2000, EarlyView., 2023
Abstract Periodontal diseases include pathological conditions elicited by the presence of bacterial biofilms leading to a host response. In the diagnostic process, clinical signs such as bleeding on probing, development of periodontal pockets and gingival recessions, furcation involvement and presence of radiographic bone loss should be assessed prior ...
Giovanni E. Salvi, Andrea Roccuzzo, Jean‐Claude Imber, Alexandra Stähli, Björn Klinge, Niklaus P. Lang   +5 more
wiley   +1 more source

Polydactyly and syndactyly linked to GLI3 and TBX5 mutations: A pediatric case report

Global Medical Genetics
Background: Polydactyly and syndactyly, which are commonly encountered congenital limb deformities, rarely occur together and are linked with significant genetic mutations.
R. Leonardi, G. Pellino, E. Floridia, M. Lo Bianco, M. Ruggieri, SY. Cho, V. Pavone, P. Pavone, A. Polizzi   +8 more
doaj   +1 more source

Incidence of concussion in intercollegiate wheelchair basketball athletes

PM&R, EarlyView.
Abstract Background Concussion surveillance in adaptive sports is essential for improving athlete safety and informing prevention strategies, yet existing data remain limited. To our knowledge, this is the first longitudinal investigation of concussion incidence in athletes with disability across multiple seasons.
Alexander Kowalske, Lindsey Kim, Kristen Santiago, Xiaoyu Norman Pan, Stephen Urias, Donald Kasitinon   +5 more
wiley   +1 more source