Results 21 to 30 of about 9,476 (139)

Sleep Disorders in Klinefelter Syndrome and Other Sex Chromosome Aneuploidies: A Narrative Review

Andrology, EarlyView.
ABSTRACT Background Sex chromosome aneuploidies (SCAs) are among the most frequent types of chromosomal aneuploidies and include Klinefelter syndrome (47,XXY and higher‐grade variants), 47,XYY syndrome, Turner syndrome (45,X), and trisomy X (47,XXX).
Roberto Paparella, Fabiola Panvino, Ida Pucarelli, Luigi Tarani   +3 more
wiley   +1 more source

Clinical and genetic characterization of intellectual disability

Developmental Medicine &Child Neurology, EarlyView.
This study examines the etiological factors and comorbidities in a large cohort of Finnish patients with intellectual disability. Genetic causes—including chromosomal abnormalities and pathogenic gene variants—were more frequently identified in individuals with moderate to profound intellectual disability.
Aarni Venetvaara, Minna Kraatari‐Tiri, Jussi‐Pekka Tolonen, Marko Merikukka, IDGEN Study Group, Hannaleena Kokkonen, Teija Paakkola, Susanna Varis, Antti Dahl, Jarmo Körkkö, Jonna Komulainen‐Ebrahim, Jukka Moilanen, Johanna Uusimaa, Outi Kuismin, Elisa Rahikkala   +14 more
wiley   +1 more source

Factors Associated With Postsurgical Pain in Children and Adolescents With Cognitive Dysfunction

Journal of Clinical Nursing, EarlyView.
ABSTRACT Aim To describe the characteristics of paediatric postoperative patients with cognitive dysfunction and assess the prevalence of pain and associated factors. Desing A descriptive observational study. Methods Cross‐sectional study in children and adolescents who had undergone surgery in the previous 72 h with cognitive dysfunction impeding ...
Débora Sierra‐Núñez, Alejandro Bosch‐Alcaraz, Sandra Parada‐Almansa, Mónica Castro‐Fernández, Susana Asensio‐Sales, Daniel Gracia‐Martínez, Anna Falcó‐Pegueroles, Mª. Ángeles Saz‐Roy, Esperanza Zuriguel‐Pérez   +8 more
wiley   +1 more source

First Revision of the Guidelines for the Diagnosis and Management of Remethylation Disorders

Journal of Inherited Metabolic Disease, Volume 49, Issue 4, July 2026.
ABSTRACT This guideline summarizes diagnostic and therapeutic approaches based on a systematic literature review and evidence evaluation using the GRADE methodology. Given the limited high‐quality data, expert consensus was additionally obtained through a modified Delphi process.
Giorgia Olivieri, Andrea Bordugo, Birute Burnyte, Alessandro Costetti, Maria‐Luz Couce, Luisa Diogo, Francois Feillet, D. Sean Froese, Benedetta Greco, Jean‐Louis Gueant, Luciana Hannibal, Friederike Hörster, Viktor Kožich, Giancarlo La Marca, Irini Manoli, Fanny Mochel, Lorenzo Orazi, Belén Pérez, Manuel Schiff, Bernd C. Schwahn, Ida Schwartz, Karolina M. Stepien, Jolanta Sykut‐Cegielska, Trine Tangeraas, Rolf H. Zetterström, Carlo Dionisi‐Vici, Martina Huemer   +26 more
wiley   +1 more source

Vitamin‐Responsive Disorders: From Molecular Basis to Clinical Presentation and Therapy

Journal of Inherited Metabolic Disease, Volume 49, Issue 4, July 2026.
ABSTRACT Vitamin‐dependent cofactors are essential for numerous metabolic reactions, and defects affecting their uptake, conversion, utilisation, or regeneration constitute a heterogeneous group of inherited metabolic disorders (IMDs). Although dietary vitamin intake is sufficient to sustain coenzyme synthesis in healthy individuals, it is insufficient
Cécile Acquaviva, Yann Nadjar, Manuel Schiff, Christine Vianey‐Saban, Alain Fouilhoux, Jean‐François Benoist   +5 more
wiley   +1 more source

Unveiling a New Link: Cholesterol Deficiency in Smith–Lemli–Opitz and Niemann–Pick C as a Driver of Ciliopathies

American Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1179-1191, June 2026.
ABSTRACT The ciliopathies are a group of genetic disorders caused by defective function of either the primary cilia (a large number) or the motile cilia (a much smaller number). These have been defined as diseases with mutations in genes encoding individual ciliary or cilia‐associated proteins.
Robert P. Erickson, Maria Teresa Fiorenza   +1 more
wiley   +1 more source

Trends in antiseizure medication monotherapy for pediatric epilepsy in the United States

Epilepsia Open, Volume 11, Issue 3, Page 1028-1035, June 2026.
Abstract Objective National prescribing trends for antiseizure medication (ASM) in children with epilepsy over the past decade are unclear. Despite the 2021 SANAD II trials supporting lamotrigine and valproate for focal and generalized epilepsies, respectively, it is unknown if their use increased.
Adam P. Ostendorf, Mariah Eisner, Mahmoud Abdel‐Rasoul, Stephanie M. Ahrens, Jaime D. Twanow, Howard P. Goodkin, Christopher W. Beatty   +6 more
wiley   +1 more source

Evaluating Neurodevelopmental Sequelae of Propranolol Use in Infantile Hemangioma: A Large‐Scale Population‐Based Study

JEADV Clinical Practice, Volume 5, Issue 2, Page 502-509, June 2026.
ABSTRACT Background Propranolol is widely adopted as the first‐line treatment for problematic infantile hemangioma (IH). Despite its efficacy and widespread use, concerns persist about potential long‐term neurodevelopmental risks, given propranolol′s ability to cross the blood‐brain barrier during early development. Objectives To evaluate the long‐term
Khalaf Kridin, Samer Kridin, Wisal Sawaed, Ralf J. Ludwig   +3 more
wiley   +1 more source

Genotype–Phenotype Spectrum of Non‐Syndromic Monogenic Obesity in a National Paediatric Cohort

Pediatric Obesity, Volume 21, Issue 6, June 2026.
ABSTRACT Objective Non‐syndromic monogenic obesity, caused by defects in the leptin‐melanocortin pathway, presents with early‐onset severe obesity and hyperphagia, but genotype–phenotype and metabolic correlations across different genetic forms remain unclear.
Ahmet Kahveci, Selin Uzun Karauzum, Hayrullah Manyas, Behiye Sarikaya Ozdemir, Zerrin Orbak, Ummahan Tercan, Ruken Yildirim, Nihal Hatipoglu, Fatih Kilci, Hatice Nursoy, Servan Ozalkak, Baris Kolbasi, Semra Cetinkaya, Hazal Canbaz Ozdemir, Mesut Parlak, Filiz Tutunculer Kokenli, Emine Camtosun, Saime Ergen Dibeklioglu, Gonul Buyukyilmaz, Ayse Derya Bulus, Hanife Gul Balki, Ayse Ozden, E. Nazli Gonc, Elif Ozsu, Huseyin Demirbilek, Melek Yildiz, Samim Ozen, Abdullah Bereket, Belma Haliloglu   +28 more
wiley   +1 more source

Oxidative Stress, Folate Receptor Autoimmunity, and CSF Findings in Severe Infantile Autism. [PDF]

Autism Res Treat, 2020
Ramaekers VT, Sequeira JM, Thöny B, Quadros EV.   +3 more
europepmc   +1 more source