Results 61 to 70 of about 18,601 (198)

Optic nerve hypoplasia and septo‐optic‐pituitary dysplasia

Developmental Medicine &Child Neurology, EarlyView.
Optic nerve hypoplasia and septo‐optic‐pituitary dysplasia. Abstract The presence of a small optic disc on funduscopy is prerequisite for the diagnosis of optic nerve hypoplasia (ONH). Visual acuity may be normal. However, amblyopia can occur in ONH. A relative afferent pupillary light defect indicates unilateral or asymmetrical ONH.
Michael S. Salman
wiley   +1 more source

RLIM‐associated neurodevelopmental disorders: From clinical spectrum to molecular mechanisms

The FEBS Journal, EarlyView.
RLIM (RNF12) is an E3 ubiquitin ligase essential for mammalian development. Loss‐of‐function variants cause Tønne–Kalscheuer syndrome, while duplications cause Xq13 duplication syndrome, highlighting RLIM dosage sensitivity. This review summarizes the genetics, clinical features, and molecular mechanisms of RLIM‐associated disorders, integrating ...
Madison Landon, Kyra Swildens, Vera M. Kalscheuer, Cristina Gontan, Francisco Bustos   +4 more
wiley   +1 more source

Elevated Nocturnal CO2 and Autonomic Dysfunction in Children With Down Syndrome

Journal of Intellectual Disability Research, EarlyView.
ABSTRACT Background Sleep‐disordered breathing (SDB) frequently complicates Down syndrome (DS). Beyond upper airway obstruction, emerging evidence suggests an autonomic nervous system (ANS) dysfunction affecting CO2 regulation. The aim of this study was to investigate nocturnal gas exchanges in children with DS and compare them to what has been ...
Jessica Taytard, Segolène Falquero, Sophie Denamur, Pierre‐Yves Boelle, Karl Leroux, Harriet Corvol, Aimé Ravel, Clotilde Mircher, Jeanne Toulas, Emmanuelle Prioux, Marie‐Anne Caillaud, Guillaume Aubertin, Hervé Walti   +12 more
wiley   +1 more source

Comparing the Effect of Supplemental 80% and 40% Oxygen on Postoperative Nausea and Vomiting in the Pediatrics Undergoing Strabismus Surgery [PDF]

Majallah-i dānishgāh-i ̒ulūm-i pizishkī-i Arāk, 2017
Background: Postoperative nausea and vomiting (PONV) is one of the most common complications in the patients undergoing strabismus surgery. The aim of current study was comparing supplemental 80% and 40% oxygen on reducing postoperative nausea and ...
Darioush Moradi Farsani, Khosro Naghibi, Mojtaba Rahimi Varposhti, Bahador Malekipoor, Tahereh Fasihi   +4 more
doaj  

CHARGE Syndrome: A Narrative Review and Update on Diagnosis, Assessment and Management

Journal of Paediatrics and Child Health, EarlyView.
ABSTRACT Background CHARGE syndrome (CS) is a rare multisystemic genetic condition caused by a pathogenic variant in the DNA‐binding protein‐7 CHD7 gene. The condition affects the development of neural crest cells, which give rise to craniofacial structures, cranial nerves, ears, eyes and the heart, resulting in diverse and complex clinical features ...
Eleni M. van Gelder, Suzanna E. L. Temple, Niall Jefferson, David Brown, Kasee Stratton‐Gadke, Madelene Rich, Steve Rose, Kim Blake   +7 more
wiley   +1 more source

Long‐term outcomes following modified Blalock–Taussig–Thomas shunt placement in 13 dogs with cyanotic congenital heart disease

Journal of Small Animal Practice, EarlyView.
Objectives To describe long‐term outcome and owner‐perceived quality of life in dogs with cyanotic congenital cardiac disease undergoing modified Blalock–Taussig–Thomas shunt procedure. Materials and Methods Medical records of dogs that underwent Blalock–Taussig–Thomas shunt between 2009 and 2025 at a small animal referral hospital were retrospectively
M. Rossanese, J. Hannabuss, D. Brockman
wiley   +1 more source

A Sensitive Period for Automaticity Rather than Ability: Automatic Visuospatial Coding of Touch Requires Visual Experience in Early Life

Developmental Science, Volume 30, Issue 1, January 2027.
ABSTRACT Early visual experience can profoundly shape tactile perception. Sighted and late blind but not congenitally blind humans automatically link touch to a visuospatial reference frame—evidenced by a tendency to assign tactile stimuli to the wrong hand when the hands are crossed.
Stephanie Badde, Suddha Sourav, Kabilan Pitchaimuthu, Bhavana Kolli, Waqar Khan, Ramesh Kekunnaya, Brigitte Röder   +6 more
wiley   +1 more source

A 3‐year‐old girl with a left optic nerve tumor

Brain Pathology, EarlyView.
Samuel López Muñoz, Alberto Berjón, Carlos Rodríguez Antolín, Claudia Sánchez Lara, Marta Mendiola, Victoria Heredia Soto, Álvaro Lassaletta, Carlos González Pérez, Pedro Rubio Aparicio, Jorge Zamorano, Isabel Esteban Rodríguez   +10 more
wiley   +1 more source

Cerebellar Abnormalities in the Neuroimaging Spectrum of CLTC‐Related Disorder

American Journal of Medical Genetics Part A, Volume 200, Issue 12, Page 2601-2607, December 2026.
ABSTRACT Pathogenic variants in CLTC, which encodes the clathrin heavy chain involved in vesicle‐mediated trafficking in neurons, cause a rare neurodevelopmental disorder associated with variable severity of global developmental delay and intellectual disability and structural brain abnormalities. Although corpus callosum and white matter anomalies are
Daniel Charouf, Andrea Accogli, Fadi F. Hamdan, Francesca Nardecchia, Toshiyuki Itai, Kenneth A. Myers, Christine Saint Martin, Myriam Srour   +7 more
wiley   +1 more source

An Adult Presentation of KIF11‐Related MCLID Syndrome: Case Report and 40‐Year Follow‐Up

American Journal of Medical Genetics Part A, Volume 200, Issue 12, Page 2794-2803, December 2026.
ABSTRACT Pathogenic variants in KIF11 are linked to autosomal dominant syndromes with microcephaly, chorioretinopathy, lymphedema, and intellectual disability (MCLID), though adult presentations remain underreported. We report a 42‐year‐old female presenting with a de novo single‐amino acid in‐frame deletion in the KIF11 gene (c.1294_1296del; p ...
Thrishna Chathurvedula, Juvy Rabelas, Kareem Touleimat, Elaine Marchi, Ruhi Shah, Shaydah Kheradmand, Kuldeep Singh, Karen Amble, Gholson J. Lyon   +8 more
wiley   +1 more source