Results 131 to 140 of about 214,123 (285)

Corneal Sequestration and Bilateral Distichiasis in a Binturong (Arctictis binturong)

Veterinary Ophthalmology, Volume 29, Issue 6, November 2026.
ABSTRACT Objective To report the first documented case of corneal sequestration and distichiasis in a binturong (Arctictis binturong), discuss implications of disease prevalence in a non‐domestic feliform, and hypothesize on potential etiology and predisposing factors for corneal sequestration.
Vienna Lunking, Mandy Womble, Hannah L. Smith, Ashley Souza, Sarah Ozawa, Tara Harrison, Elizabeth Rose, Annie Oh   +7 more
wiley   +1 more source

Esotropía comitante aguda del adulto. Presentación de un caso

Gaceta Médica Espirituana, 2017
Fundamentación. La esotropía aguda del adulto es un estrabismo no frecuente, de aparición tardía, por encima de los 7 años de edad y puede verse en edades avanzadas, el comienzo es brusco; se caracteriza desde el punto de vista clínico por diplopía ...
Yunia Toledo Rodríguez, Pedra Rodríguez Montero, Yenisleidis Díaz Rodríguez Gallo, Maritza J. Pina García, Enrique Toledo Rodríguez   +4 more
doaj  

The Homozygous p.(Arg215Ter) Variant in XRCC2 Is Associated With Atypical Fanconi Anemia Without Major Hematological Abnormalities in Childhood

American Journal of Medical Genetics Part A, Volume 200, Issue 10, Page 2331-2337, October 2026.
ABSTRACT Fanconi Anemia (FA) is the most frequent inherited bone marrow failure syndrome. A role for the XRCC2 gene in FA was suspected in 2012 and confirmed in 2016, but only two affected individuals have been described thus far, and no long‐term follow‐up is available.
Sabina Cenciarelli, Giulia Bruna Marchetti, Maria Iascone, Maria Grazia Patricelli, Sara Giangiobbe, Gabriella Cinzia Pozzobon, Miriam Nella Savini, Fabio Giglio, Alessandro Aiuti, Paola Carrera, Francesca Ferrua, Angela Peron   +11 more
wiley   +1 more source

Defining Features of Gabriele‐de Vries Syndrome in Adults: A Case Report and Literature Review

American Journal of Medical Genetics Part A, Volume 200, Issue 10, Page 2396-2404, October 2026.
ABSTRACT Gabriele‐de Vries syndrome (GADEVS) is a neurodevelopmental disorder caused by heterozygous pathogenic variants in the YY1 gene. Like most rare genetic syndromes, the adult manifestations of GADEVS remain poorly defined. Here, we describe the oldest patient reported to date with GADEVS—a 63‐year‐old woman with a c.1177_1179del YY1 variant ...
Ethan W. Hollingsworth, Changrui Xiao
wiley   +1 more source

De Novo 2.2 Mb 19q13.42–q13.43 Microdeletion Encompassing U2AF2: Support for a Haploinsufficiency Model

American Journal of Medical Genetics Part A, Volume 200, Issue 10, Page 2350-2356, October 2026.
ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo, Sarah Araji, Weimin Bi, Seema R. Lalani   +3 more
wiley   +1 more source

Histidine Supplementation Stabilizes Hearing and Vision and Improves Growth in HARS1‐Related Autosomal Recessive Disorder Associated With Usher‐Like Symptoms

American Journal of Medical Genetics Part A, Volume 200, Issue 10, Page 2289-2308, October 2026.
ABSTRACT Autosomal recessive HARS1‐related disorder (originally described as Usher syndrome type 3B) caused by a homozygous Y454S variant in the histidyl‐tRNA synthetase gene (HARS1) is characterized by progressive sensorineural hearing and vision loss and respiratory deterioration with risk for sudden death following febrile illnesses.
Victoria Mok Siu, Rosan Kenana, Rana Chakrabarti, Sarah D. P. Wilhelm, Joseph Andrews, Susan J. Leat, Christina Parker, Michael Miller, Leslie A. Nangle, Wendy McCaul, Ashfia Chowdhury, Natalie Hutchings, Ryan A. Adams, Lauren Guy, Mandy Rhody, Verena Juncal, Marisa I. Mendes, Desiree E. C. Smith, Gajja S. Salomons, Angelica A. Moresco, Daphne L. McCulloch, D. Holmes Morton, Ilka U. Heinemann, C. Anthony Rupar   +23 more
wiley   +1 more source

Marx's Concept of Justice: Disambiguating Capitalist and Communist Justice

Journal of Social Philosophy, EarlyView.
Gregory Slack
wiley   +1 more source

Diagnostic Delay in Pediatric Nasopharyngeal Burkitt Lymphoma Presenting With Chronic Otalgia and Multiple Cranial Nerve Palsies: A Case Report

Clinical Case Reports, Volume 14, Issue 10, October 2026.
ABSTRACT Persistent unilateral otalgia, especially when refractory to treatment and associated with cranial nerve signs, should prompt early imaging and nasopharyngeal evaluation to avoid delayed diagnosis of aggressive malignancies such as Burkitt lymphoma.
Sultaneh Haddad, Abdulwahhab Al‐Shaikhli, Fehmat Hallak, Halima Hamdan, Ahmed Farag, Ranim Nakhal, Sameh Alramdani, Mohammad Obada Alsadi, Rawad Hamza, Othman Hamdan   +9 more
wiley   +1 more source

Perspectives in Pediatric Ambulatory Anesthesia: Part 2—One Center's 15 Year Experience Improving Quality and Safety Outcomes

Pediatric Anesthesia, Volume 36, Issue 10, Page 1196-1206, October 2026.
ABSTRACT Introduction Pediatric ambulatory surgery has become the dominant model of surgical care in the United States, driven primarily by economic forces. There is variability in regional practice patterns, quality improvement cycles, and outcomes. Opportunity exists to overcome knowledge gaps and provide sustainable pathways of quality improvement ...
Jennifer L. Chiem, Elizabeth E. Hansen, Kayla Reece, Samuel M. Vanderhoek, Sanjay R. Parikh, Paul A. Merguerian, Lynn D. Martin   +6 more
wiley   +1 more source

A Diagnostic Challenge: Unilateral Gingival Enlargement With Altered Tooth Eruption in a Paediatric Patient

Oral Diseases, EarlyView.
Luca Cricenti, Rossella Ninivaggi, Federico Liguori, Nicola Scotti, Allegra Comba, Patrizia Defabianis, Federica Romano   +6 more
wiley   +1 more source