Results 111 to 120 of about 287 (186)

Regression, Ataxia, and Nystagmus in a Toddler: Unraveling a Rare Neurodegenerative Disorder

Clinical Case Reports, Volume 14, Issue 8, August 2026.
ABSTRACT Infantile neuroaxonal dystrophy (INAD) should be considered in any toddler presenting with psychomotor regression and cerebellar atrophy, even when basal ganglia iron deposition is absent on initial MRI. Molecular genetic testing of PLA2G6 is essential for definitive diagnosis, enabling accurate genetic counseling and timely multidisciplinary ...
K. Venkataramana Reddy, Agasthya Daggu, Sumanth Reddy Mudiyala, Siddartha Reddy Gangapuram, M. Geethika, Lakshya Nehal Samineni   +5 more
wiley   +1 more source

Epilepsy characteristics in patients with muscle‐eye‐brain disease: A systematic review of electroclinical features

Epileptic Disorders, Volume 28, Issue 4, Page 1007-1020, August 2026.
Abstract Background and Objectives Muscle‐Eye‐Brain disease (MEB) is a dystroglycanopathy that belongs to the congenital muscular dystrophies. Central nervous system manifestations include congenital brain abnormalities, neurodevelopmental delay, and epilepsy, making it a rare but important cause of developmental and epileptic encephalopathy.
Stefania Kalampokini, Evripidis Pityrigkas, Eleni Liouta, Georgia Pepe, Vasiliki Poulidou, Martha Spilioti, Vasilios K. Kimiskidis   +6 more
wiley   +1 more source

Real‐world‐data for phenotypes and genotypes of rare monogenic genetic epilepsies and genes of uncertain significance for epilepsy

Epilepsia Open, Volume 11, Issue 4, Page 1184-1199, August 2026.
Abstract Objectives The objectives of this study were to develop a real‐world‐data (RWD) database for patients with epilepsy to provide further real‐world‐evidence (RWE) for monogenic genetic epilepsies; to assess the usefulness of a diagnostic algorithm in epilepsy; and to examine protein 3D structures using in silico tools to predict variant ...
Haley Morris, Elizabeth Mathew, Shalini Bahl, Marta Villa‐Lopez, Saadet Mercimek‐Andrews   +4 more
wiley   +1 more source

Ocular Complications in Patients With Transfusion‐Dependent Beta‐Thalassemia Receiving Deferasirox: A Cross‐Sectional Study

Health Science Reports, Volume 9, Issue 8, August 2026.
ABSTRACT Background and Aims Transfusion‐dependent beta‐thalassemia is a chronic hematologic disorder necessitating lifelong blood transfusions and iron chelation therapy, which can lead to systemic and ocular complications. This study aimed to assess the frequency and characteristics of ocular complications in beta‐thalassemia patients treated with ...
Abdolreza Medghalchi, Azadeh Rajabzadeh Kanafi, Yousef Alizadeh, Adel Baghersalimi, Maryam Doorandish, Afagh Hassanzadeh Rad, Shila Kianmehr, Bahram Darbandi   +7 more
wiley   +1 more source

Horizontal strabismus surgery in children and adults [PDF]

Acta Ophthalmologica, 2011
Robert T, Swan, Omar R, Shakir, David S, Strogatz, John W, Simon   +3 more
openaire   +2 more sources

Expanding the Genotypic Spectrum of POMGNT1‐Related Muscle‐Eye‐Brain Disease: A Case Report

Molecular Genetics &Genomic Medicine, Volume 14, Issue 8, August 2026.
Compound heterozygous variants in the POMGNT1 gene expand the genotypic spectrum of Muscle‐Eye‐Brain disease, highlighting severe epilepsy with status epilepticus. Despite long disease duration, seizure freedom was achieved with intensive antiseizure polytherapy, underscoring the importance of continued therapeutic optimization in dystroglycanopathies.
Evripidis Pityrigkas, Vasiliki Poulidou, Stefania Kalampokini, Eleni Liouta, Georgia Pepe, Martha Spilioti, Vasilios K. Kimiskidis   +6 more
wiley   +1 more source

Progressive binocular visual alterations associated with increasing myopic anisometropia in spectacle‐corrected children

Optometry and Vision Science, Volume 103, Issue 8, August 2026.
ABSTRACT Purpose To characterize the severity‐dependent pattern of accommodative and binocular visual alterations in spectacle‐corrected children with myopic anisometropia, normal best‐corrected visual acuity (BCVA), and no clinically significant binocular vision‐related symptoms.
Ningxin Dou, Xiaodan Dong, Jiayan Li, Yunfan Li, Jiaqi Chen, Guoming Zhang, Yanling Zhang   +6 more
wiley   +1 more source

Mycoplasma bovis involved in pituitary abscess syndrome in a beef heifer concomitantly infected with haemoparasites

Veterinary Record Case Reports, Volume 14, Issue 3, August 2026.
Abstract This case report describes pituitary abscess syndrome (PAS) in a 20‐month‐old Blonde d'Aquitaine heifer with cranial nerve deficits (V, VII, VIII, IX, X and XII) associated with facial hemiparesis, head tilt, ataxia and dysphagia, pneumonia and otitis interna.
Chloé Saada, Manon Gonçalves‐Brandao, Hortensia Robert, Renaud Maillard, Laurent‐Xavier Nouvel   +4 more
wiley   +1 more source

Increased Prevalence of Rare Copy Number Variants in Australian Children With Fetal Alcohol Spectrum Disorder: Experience in a State‐Wide Diagnostic Service

Alcohol, Clinical and Experimental Research, Volume 50, Issue 8, August 2026.
Of 175 Australian children with fetal alcohol spectrum disorder (FASD), 90% had genetic testing, and of those, 24% had a rare copy number variant (CNV). Genetic testing supports the FASD diagnostic process and may reveal additional diagnoses or sources of genetic vulnerability to FASD.
Suzy Byrnes, Felicity Collins, Elizabeth Elliott   +2 more
wiley   +1 more source

The Swedish National Pediatric Cataract Register (PECARE): Coexisting systemic disorders 2007–2023

Acta Ophthalmologica, Volume 104, Issue 5, Page 510-516, August 2026.
Abstract Purpose To analyse the frequency and type of coexisting systemic disorders in children operated on for cataract in Sweden. Methods Data were retrieved from the Swedish National Pediatric Cataract Register (PECARE) for children operated between January 1, 2007, and December 31, 2023 (n = 975), including follow‐ups at age 1, 2, 5 and 10 ...
David Wackerberg, Jenny Gyllén, Birgitte Haargaard, Alf Nyström, Arzu Karatepe Hashas, Anna Linnarsson Wiklund, Eric Trocmé, Ulrika Kjellström, Kristina Tornqvist, Gunilla Magnusson   +9 more
wiley   +1 more source