Results 241 to 250 of about 324,734 (337)

Identification of Genetic Variants Causing Paediatric Cataract in Myanmar

Clinical Genetics, EarlyView.
Up to 60% of children with cataract in Myanmar have a causative variant in a known cataract gene. This is a similar rate to other populations screened to date, but highlights that there are more cataract genes left to identify. ABSTRACT Genetic testing for paediatric cataract detects a cause in 50%–70% of affected children but is as low as 20% in some ...
Johanna L. Jones, Daisy Boardman, Khine Nweni, Franoli Edo, Isabelly M. Barros de Lima, Pakdhipat Lertsinpakdee, Soe Hlaing, Robert Casson, Ashwin Mallipatna, Ye Win, Bennet McComish, Naing Lin, James Muecke, Andy Griffiths, Martin Holmes, Than Htun Aung, Kathryn P. Burdon   +16 more
wiley   +1 more source

Glial and immune dysregulation in glaucoma independent of retinal ganglion cell loss: a human post-mortem histopathology study. [PDF]

Acta Neuropathol Commun
Salkar A, Palanivel V, Basavarajappa D, Mirzaei M, Schulz A, Yan P, Gupta V, Graham S, You Y.   +8 more
europepmc   +1 more source

PIK3C2A‐Related Clinical Phenotype and Cellular Charaterization Linked to Functional SHH Primary Cilia Defect

Clinical Genetics, EarlyView.
Trio exome sequencing allowed the identification of two novel compound heterozygous variants in PIK3C2A, defining the fifth family presenting a PIK3C2A‐related syndrome characterized by pulverulent cataracts and deafness. Functional testing revealed impaired PI metabolism and primary dysfunction phenotype.
Adella Karam, Clarisse Delvallée, Bénédicte Gérard, Elodie Javey, Pascal Kessler, Valérie Pelletier, Jean‐Baptiste Lamouche, Nicolas Le May, Jean Muller, Hélène Dollfus   +9 more
wiley   +1 more source

NEW DEVELOPMENTS IN THE PHARMACOLOGICAL TREATMENT OF PRIMARY GLAUCOMA

, 1938
M. Schoenberg
openalex   +1 more source

Deciphering Age‐Dependent ECM Remodelling in Liver: Proteomic Profiling and Its Implications for Aging and Therapeutic Targets

Cell Proliferation, EarlyView.
This study reveals age‐dependent remodelling of the liver extracellular matrix (ECM), identifying Lumican as a key regulator of hepatocyte proliferation and stemness in foetal development. Dynamic ECM shifts influence liver function, offering insights into therapeutic strategies for aging‐related hepatic decline.
Juan Liu, Qingru Song, Chen Li, Jiexin Yan, Ni An, Wenzhen Yin, Jinmei Diao, Yuxin Su, Yunfang Wang   +8 more
wiley   +1 more source

The role of peripapillary vessel density and retinal nerve fiber layer thickness in diagnosing and monitoring myopic glaucoma. [PDF]

Front Med (Lausanne)
Chen Q, Meng Q, Tao Y, Liu J, Zeng Z, Sheng Y, Yang W, Cun Q, Lin X, Chen X, Huang G, Zhong H.   +11 more
europepmc   +1 more source

GAINSeq: glaucoma pre-symptomatic detection using machine learning models driven by next-generation sequencing data. [PDF]

Sci Rep
Iqbal M, Iqbal A, Ayub H, Khan M, Ahmad N, Javed Y, Alshara MA.   +6 more
europepmc   +1 more source

Late-onset pigment dispersion glaucoma after phakic implantable collamer lens implantation: A case report. [PDF]

Medicine (Baltimore)
Li Z, Tang C, Yang J, Zhang M, Wu R, Peng L.   +5 more
europepmc   +1 more source

Status epilepticus in older adults: A critical review

Epilepsia, EarlyView.
Abstract Older adults (≥60 years of age) have the highest incidence of status epilepticus (SE) among adults and experience the highest morbidity and mortality. SE incidence increases with age in adulthood. A recent study from Austria estimated an incidence of 89.6/100 000 and 67.6/100 000 person‐years adjusted for age and sex in women and men aged >60 ...
Matthew R. Woodward, Michael J. Armahizer, Tina I. Wang, Neeraj Badjatia, Emily L. Johnson, Emily J. Gilmore   +5 more
wiley   +1 more source

Central Retinal Vein Occlusion (CRVO) complicating post-cataract surgery: a case report and multifactorial analysis. [PDF]

BMC Ophthalmol
Xiaodong L, Xin L, Xuewei Q, Mei C, Xianfeng Y.   +4 more
europepmc   +1 more source