Results 91 to 100 of about 85,145 (254)

Phenotyping Preeclampsia Using Unsupervised Machine Learning: A Prospective Cohort Study

BJOG: An International Journal of Obstetrics &Gynaecology, EarlyView.
ABSTRACT Objective To explore clinically meaningful phenotypes of preeclampsia using unsupervised machine learning. Design Prospective cohort study. Setting BCNatal, a tertiary maternal‐foetal medicine centre (Barcelona, Spain). Population A total of 482 pregnant women diagnosed with preeclampsia between August 2013 and April 2024.
Ohad Houri, Lina Youssef, Francesca Crovetto, Maria Borrell, Maddalena Crimella, Maria Giulia Ferrante, Rommy H. Novoa, Irene Casas, Noelia Encabo, Leticia Benitez, Marta Larroya, Anna Peguero, Eva Meler, Sara Castro‐Barquero, Bart Bijnens, Francesc Figueras, Eduard Gratacos, Gabriel Bernardino, Fàtima Crispi   +18 more
wiley   +1 more source

Optic Nerve Hypoplasia (ONH) - Double Ring Sign

, 2022
Optic nerve hypoplasia (ONH) is characterized by a decreased number of optic nerve axons. It can present unilaterally or bilaterally, Isolated or associated with midline cerebral structural defects, such as septum pellucidum absence, agenesis of corpus ...
Bashaer Aldhahwani, MD; Joshua Pasol, MD
core  

Aniridia‐associated keratopathy: Clinical and molecular mechanisms of disease progression and emerging therapeutic targets

Acta Ophthalmologica, EarlyView.
Abstract Congenital aniridia is a rare genetic disorder primarily caused by pathogenic variants of the PAX6 gene. It leads to various panocular anomalies, including aniridia‐associated keratopathy (AAK). This review highlights recent insights into its pathogenesis, focusing on clinical staging, microstructural changes in the cornea and molecular ...
N. Szentmáry, S. Suiwal, M. Amini, F. N. Fries, A. Náray, L. Latta, Z. Li, S. Li, S. Liu, S. L. Hsu, S. Kundu, G. Tóth, S. Trusen, J. Zimmermann, B. Seitz, B. Käsmann‐Kellner, Z. Hoxha, A. Langenbucher, O. Stachs, M. Cortón‐Perez, K. Tory, A. Csorba, Z. Z. Nagy, M. C. Acosta, J. Gallar, M. Csidey, E. Maka, T. Stachon   +27 more
wiley   +1 more source

Optic disc evaluation – A window to diagnose systemic disorder

Indian Journal of Ophthalmology. Case Reports
Papillorenal syndrome (PRS) is a genetic disorder which affects the development of optic nerve and kidneys. Here, we discuss the case of a 5-year-old boy with chronic kidney disease who also had characteristic optic disc changes.
Jyoti Matalia, L M Darshini
doaj   +1 more source

The benefits of multidisciplinary collaboration in the successful management of two complex feline cases

Australian Veterinary Journal, EarlyView.
Despite a frequent misconception that behavioural concerns are diagnoses of exclusion, medical conditions and behavioural disorders are frequently inter‐related. In human medicine, the ‘multidisciplinary team’ approach (MDTA) is considered the most efficacious way of managing patients with complex and chronic health conditions.
BE Bollaert, JM Ley, HE Zulch
wiley   +1 more source

Superior segmental optic nerve hypoplasia accompanied by progressive normal-tension glaucoma

, 2012
Yoshio Yamazaki, Fukuko HayamizuDepartment of Ophthalmology, Division of Visual Science, Nihon University School of Medicine, Tokyo, JapanAbstract: This is the first case report of a superior segmental optic hypoplasia (SSOH) combined with normal-tension
Yamazaki Y, Hayamizu F
core  

Superior Segmental Optic Nerve Hypoplasia

, 2020
This is a case of superior segmental optic nerve hypoplasia in a woman with a history of maternal diabetes. A 25 year-old woman noticed a visual field defect in her right eye.
Naa Naamuah M. Tagoe, MBChB, FWACS, FGCS; Rahul A. Sharma, MD, MPH; Valérie Biousse, MD; Nancy J. Newman, MD
core  

Novel Postzygotic Variants Associated With Hypomelanosis of Ito Expand the ACTB‐Related Neurocutaneous Disease Spectrum

Clinical Genetics, EarlyView.
We describe a previously unreported phenotype related to postzygotic ACTB variants with hypomelanosis of Ito, characterized by hypopigmentation associated or not with neurodevelopmental features, distinct from Becker presentations, bridging constitutional neurodevelopmental and somatic cutaneous phenotypes.
Estella Castillon, Paul Rollier, Didier Bessis, Laurent Pasquier, Caroline Racine, Alexis Praga, Pierre Vabres, Bertille Bonniaud, Paul Kuentz, Laurence Faivre   +9 more
wiley   +1 more source

Septo-optic dysplasia plus syndrome in a 2-year-old child: A case report

Radiology Case Reports
Septo-optic dysplasia (SOD) is a rare congenital condition characterized by a triad of septum pellucidum dysgenesis, optic nerve hypoplasia, and hypothalamic-hypophyseal dysfunction.
Sara Essetti, Chaymae Faraj, Fatima Chait, Sara Ez-Zaky, Nazik Allali, Siham El Haddad, Latifa Chat   +6 more
doaj   +1 more source

Genetic dissection of anterior segment dysgenesis caused by a Col4a1 mutation in mouse

Disease Models & Mechanisms, 2017
Ocular anterior segment dysgenesis (ASD) describes a spectrum of clinically and genetically heterogeneous congenital disorders affecting anterior structures that often lead to impaired vision.
Mao Mao, Márton Kiss, Yvonne Ou, Douglas B. Gould   +3 more
doaj   +1 more source