Results 181 to 190 of about 5,870 (232)

WDTC1 Haploinsufficiency as a Cause of Neurodevelopmental Phenotypes

Clinical Genetics, Volume 110, Issue 1, Page 29-35, July 2026.
In seven individuals heterozygous for loss‐of‐function or conserved missense variants, we demonstrate that loss of WDTC1 function causes a neurodevelopmental syndrome characterized by developmental delay, intellectual disability, and seizures.
Elyssa Smith, Victor Faundes, Xiaonan Zhao, Bixia Zheng, Gang Zhang, Xiao Mao, Emily Danko, Jason Laufman, Thomas Besnard, Bertrand Isidor, Benjamin Cogné, Brynjar Örn Jensson, Telma S. Sulem, Patrick Sulem, Jill A. Rosenfeld, Daryl A. Scott   +15 more
wiley   +1 more source

From Silos to Synergy: Insights From Health Professionals on Integrating Youth Mental Health Care

Early Intervention in Psychiatry, Volume 20, Issue 7, July 2026.
ABSTRACT Background Over the last two decades, integrated mental health services for youth aged 12–25 have expanded globally to enable young people to access comprehensive age‐appropriate care. This study examined the barriers and facilitators of integrated care from the perspective of health practitioners and service providers.
Vilas Sawrikar, Sarah Leung, Michael Hodgins, Catherine McHugh, Oliver Ardill‐Young, Valsamma Eapen, Raghu Lingam, Jackie Curtis   +7 more
wiley   +1 more source

Closely Monitored Successful Full‐Term Delivery in a Woman With Spondyloepiphyseal Dysplasia Congenita: A Case Report and Literature Review

Journal of Obstetrics and Gynaecology Research, Volume 52, Issue 7, July 2026.
ABSTRACT Spondyloepiphyseal dysplasia congenita (SEDC) is a rare skeletal dysplasia caused by heterozygous pathogenic variants in COL2A1, with short‐trunk stature and respiratory compromise during pregnancy. We report a 30‐year‐old primigravida with SEDC who achieved full‐term delivery under multidisciplinary management.
Masako Ueki, Motoki Ono, Motoko Kamiya, Yusuke Yokokawa, Yasuhiro Tanaka, Ryoichi Asaka, Chiho Fuseya, Norihiko Kikuchi, Tanri Shiozawa, Tsutomu Miyamoto   +9 more
wiley   +1 more source

Allergic but not autoimmune comorbidities in children with PFAPA: A nationwide matched case–control cohort study

Pediatric Allergy and Immunology, Volume 37, Issue 7, July 2026.
Abstract Background Periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis (PFAPA) is the most common autoinflammatory syndrome of childhood. Although immune dysregulation is central to its pathogenesis, the broader burden of allergic and autoimmune comorbidities in PFAPA remains incompletely characterized.
Yackov Berkun, Eli Magen, Eugene Merzon, Ilan Green, Avivit Golan‐Cohen, Shlomo Vinker, Ariel Israel   +6 more
wiley   +1 more source

High Standards

Philosophy and Phenomenological Research, Volume 113, Issue 1, Page 208-221, July 2026.
ABSTRACT Evaluative adjectives are gradable. The standard for falling under a gradable adjective “F” is either context‐relative or absolute. Some philosophers have recently used general linguistic tests to argue that “rational” and (moral) “good” are maximum‐degree absolute gradable adjectives: Only what's perfectly morally good strictly counts as ...
Pekka Väyrynen
wiley   +1 more source

Infographic: A randomized controlled study of ranibizumab in patients with choroidal neovascularization secondary to pathologic myopia: the RADIANCE study. [PDF]

Eye (Lond)
Yusuf IH, Henein C, Sivaprasad S.
europepmc   +1 more source

Classification, etiology and pathology of myopia.

Indian journal of ophthalmology, 1983
openaire   +2 more sources

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Updates of pathologic myopia

Progress in Retinal and Eye Research, 2016
Complications from pathologic myopia are a major cause of visual impairment and blindness, especially in east Asia. The eyes with pathologic myopia may develop loss of the best-corrected vision due to various pathologies in the macula, peripheral retina and the optic nerve.
Kyoko Ohno-Matsui, Timothy Y Y Lai, Chi-Chun Lai   +2 more
exaly   +3 more sources

Posterior staphyloma in pathologic myopia

Progress in Retinal and Eye Research, 2019
A posterior staphyloma is an outpouching of a circumscribed region of the posterior fundus and has been considered a hallmark of pathologic myopia. Occurring in highly myopic eyes, it is histologically characterized by a relatively abrupt scleral thinning starting at the staphyloma edge, a pronounced de-arrangement of scleral collagen fibrils and a ...
Kyoko Ohno-Matsui, Jost B Jonas
exaly   +3 more sources