Results 71 to 80 of about 6,877 (203)

Dental Treatment of a Patient with Treacher Collins Syndrome Under General Anaesthesia: A Case Report

Cumhuriyet Dental Journal, 2019
This article reports a case of Treacher Collins syndrome (TCS) in a five-year-old male patient treated in Kırıkkale University, Department of Pediatric Dentistry.
Aslı Soğukpınar, Merve Erkmen Almaz
doaj   +1 more source

Pediatric Outcomes for Severe and Very Severe Obstructive Sleep Apnea After Total vs. Intracapsular Tonsillectomy

Laryngoscope Investigative Otolaryngology, Volume 10, Issue 5, October 2025.
Use of intracapsular tonsillectomy is poorly studied in children with severe and very severe OSAS (OAHI > 10). Our study is the first to specifically look at this population of patients, finding no significant difference in outcomes between total and intracapsular tonsillectomy.
Jordyn A. Hurly, Anna Christina Clements, Marisa A. Ryan, Megan Ballard, Carolyn Jenks, David E. Tunkel, Jonathan M. Walsh   +6 more
wiley   +1 more source

Visceral Adipose Tissue Inflammatory Factors (TNF-Alpha, SOCS3) in Gestational Diabetes (GDM): Epigenetics as a Clue in GDM Pathophysiology [PDF]

, 2020
Gestational diabetes (GDM) is among the most challenging diseases in westernized countries, affecting mother and child, immediately and in later life. Obesity is a major risk factor for GDM.
Henrich, Wolfgang, Melchior, Kerstin, Ott, Raffael, Plagemann, Andreas, Rancourt, Rebecca C., Schellong, Karen, Ziska, Thomas   +6 more
core   +1 more source

Persisting Motor Function Problems in Children With Oesophageal Atresia Associated With Surgical Approach and Sports

Acta Paediatrica, Volume 114, Issue 8, Page 2012-2022, August 2025.
ABSTRACT Aim Children born with oesophageal atresia are at risk for impaired motor function, yet longitudinal data are lacking. This study aimed to assess overall motor functioning, motor domains and potential predictors at school age over time. Methods A prospective observational cohort study conducted within a tertiary university hospital's follow‐up
Anne‐Fleur R. L. van Hal, Sophie de Munck, Tabitha P. L. Zanen – van den Adel, Joost van Rosmalen, Saskia J. Gischler, Hanneke IJsselstijn, John Vlot, Leontien C. C. Toussaint‐Duyster   +7 more
wiley   +1 more source

The TP53 tumor suppressor gene: From molecular biology to clinical investigations

Journal of Internal Medicine, Volume 298, Issue 2, Page 78-96, August 2025.
Abstract Extensively studied over the past four decades, the TP53 gene has emerged as a pivotal watchman in cellular defense and a key factor in cancer biology. TP53 is the most frequently mutated gene in human malignancies, 50% of which carry alterations to it.
Panagiotis Baliakas, Thierry Soussi
wiley   +1 more source

A rare case of beaten copper skull pattern associated with Treacher Collins syndrome

Journal of Oral and Maxillofacial Radiology, 2016
Treacher Collins syndrome (TCS) is an autosomal dominant disorder with craniofacial abnormality. Typical features are downslanting palpebral fissures, lower eyelid colobomas, microtia, and malar and mandibular hypoplasia.
Sunita Gupta, Anju Garg, Khusboo Singh, Sinny Goel   +3 more
doaj   +1 more source

Esophageal and Oropharyngeal Dysphagia: Clinical Recommendations From the United European Gastroenterology and European Society for Neurogastroenterology and Motility

United European Gastroenterology Journal, Volume 13, Issue 6, Page 855-901, July 2025.
ABSTRACT Dysphagia is a prevalent symptom of the upper gastrointestinal tract causing health related consequences, impacting quality of life and is associated with global economic burden. Swallowing difficulties are classified into oropharyngeal dysphagia (OD) and esophageal dysphagia.
Amir Mari, Francesco Calabrese, Andrea Pasta, Greta Lorenzon, Bas Weusten, Jutta Keller, Pierfrancesco Visaggi, Sabine Roman, Elisa Marabotto, Ram Dickman, Jordi Serra, Nicola De Bortoli, Paola Iovino, Daniel Pohl, Dan Dumitrascu, Mentore Ribolsi, Claudia Barber, Serhat Bor, Mark Fox, Rami Sweis, Vicente Lorenzo‐Zuniga, Filiz Akyuz, Matteo Ghisa, Altay Celebi, Fahmi Shibli, Rainer Dziewas, Ismail Hakkı Kalkan, Jan Tack, Pere Clavé, Silvia Carrion, Ivy Cheng, Noemi Tomsen, Omar Ortega, Sergio Marin Rubio, Nicole Pizzorni, Emilia Michou, Julie Regan, Shaheen Hamdy, Nathalie Rommel, Martina Scharitzer, Olle Ekberg, Antonio Schindler, Renee Speyer, Anna Gillman, Frank Zerbib, Edoardo V. Savarino   +45 more
wiley   +1 more source

Treacher collins syndrome - Report of a classical case

Journal of Cleft Lip Palate and Craniofacial Anomalies, 2017
Treacher Collins syndrome (TCS) or Franceschetti syndrome is an autosomal dominant disorder of craniofacial development with variable expressivity. Incidence of this syndrome is approximately 1 in 50,000 live births and it affects both genders equally ...
Shweta Gangotri Sumbh, Jaishree Pagare, Bharat Sumbh   +2 more
doaj   +1 more source

Hearing Loss Profiles in Sporadic and Familial Microtia: Clinical Insights From an Ecuadorian Cohort

Birth Defects Research, Volume 117, Issue 6, June 2025.
ABSTRACT Background Microtia is a congenital anomaly of the external ear that often leads to hearing loss due to associated auditory canal and middle ear malformations. While right‐ear predominance and conductive hearing loss are well‐documented, few studies have compared anatomical and audiological differences between sporadic and familial cases ...
Fabricio González‐Andrade, Fausto Coello, Edwin Andrade, Henry Vásconez   +3 more
wiley   +1 more source

Identification and characterization of FAM124B as a novel component of a CHD7 and CHD8 containing complex [PDF]

, 2012
BACKGROUND: Mutations in the chromodomain helicase DNA binding protein 7 gene (CHD7) lead to CHARGE syndrome, an autosomal dominant multiple malformation disorder. Proteins involved in chromatin remodeling typically act in multiprotein complexes.
Batsukh, Tserendulam, Oellerich, Thomas, Pauli, Silke Jeannette, Rabe, Tamara I., Schaefer, Inga-Marie, Schulz, Yvonne, Urlaub, Henning, Wolf, Stephan   +7 more
core   +3 more sources