Results 61 to 70 of about 260,075 (308)

Marfan Syndrome Associated With Intellectual Disability and Behavioral Anomalies: Further Evidence for the Effect of Compound Heterozygous Variants in FBN1 on Phenotypic Severity

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Marfan syndrome (MFS) is a rare connective tissue disorder characterized by involvement of the cardiovascular, ocular, and musculoskeletal systems. Pathogenic variants in FBN1 cause most of the MFS cases; however, intellectual disability (ID) is rarely observed. A non‐consanguineous Pakistani family with four affected individuals was recruited.
Azmatullah Khan, Naseebullah Kakar, Ainullah Kakar, Malte Spielmann, Sajid Malik   +4 more
wiley   +1 more source

Comparison of simultaneous vs sequential pars plana vitrectomy and cataract surgery

BMC Ophthalmology, 2023
Background To compare the clinical outcomes of patients undergoing sequential pars plana vitrectomy (PPV) followed by cataract extraction surgery (CE) [PPV/CE], simultaneous PPV and CE (PPV + CE), and sequential CE followed by PPV [CE/PPV].
Abdelhalim A. Awidi, Priya M. Mathews, Nakul Shekhawat, Fasika A. Woreta, Divya Srikumaran, Yassine J. Daoud   +5 more
doaj   +1 more source

Cataract in patients with diabetes mellitus—incidence rates in the UK and risk factors

Eye, 2018
AimsTo analyze the risk of incident cataract (diagnosis or extraction) in patients with or without diabetes focusing on other comorbid conditions, antidiabetic drug use, and diabetes duration.MethodsThe study population comprised newly diagnosed diabetes
C. Becker, C. Schneider, S. Aballéa, C. Bailey, R. Bourne, S. Jick, C. Meier   +6 more
semanticscholar   +1 more source

Unveiling a New Link: Cholesterol Deficiency in Smith–Lemli–Opitz and Niemann–Pick C as a Driver of Ciliopathies

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The ciliopathies are a group of genetic disorders caused by defective function of either the primary cilia (a large number) or the motile cilia (a much smaller number). These have been defined as diseases with mutations in genes encoding individual ciliary or cilia‐associated proteins.
Robert P. Erickson, Maria Teresa Fiorenza   +1 more
wiley   +1 more source

A technique to treat Descemet’s membrane detachment following cataract surgery

Frontiers in Medicine
We describe a technique to reattach the detached Descemet’s membrane, following cataract surgery. From the main clear corneal cataract incision, aqueous humor is ejected completely by apposition of the cornea to the iris for approximately 3 s.
Wenjie Liu, Jack X. Ma, Xin Tan, Feiyan Chai, Jiewei Liu   +4 more
doaj   +1 more source

Tree shrew model of early diabetic retinopathy reveals microvascular dysfunction and identifies phosphoserine aminotransferase 1 as a novel therapeutic target

Animal Models and Experimental Medicine, EarlyView.
We developed an animal model of early diabetic retinopathy (DR) in the tree shrew by feeding a high‐fat and high‐sugar diet in combination with STZ. Physiological and biochemical index detection, hematoxylin and eosin staining, and transmission electron microscopy were performed to examine DR.
Min Qiu, Shurui Huo, Wenguang Wang, Na Li, Qingwei Zeng, Xiaomei Sun, Jiejie Dai, Pinfen Tong, Yuanyuan Han, Ling Zhao, Caixia Lu   +10 more
wiley   +1 more source

A systematic review of risk factors for cataract in type 2 diabetes

Diabetes/Metabolism Research Reviews, 2018
Type 2 diabetes (T2D) is a risk factor for cataract development. With T2D prevalence increasing, the burden of cataract‐associated vision loss will also increase.
J. Drinkwater, W. Davis, T. Davis
semanticscholar   +1 more source

Efficacy of Telitacicept in Childhood‐Onset Systemic Lupus Erythematosus: A Prospective Multicenter Cohort Study With Inverse Probability of Treatment Weighting –Adjusted Comparison to a Historical Control Group Treated With Belimumab

Arthritis &Rheumatology, EarlyView.
Objective The therapeutic effects of telitacicept combined with standard of care (SoC) in childhood‐onset systemic lupus erythematosus (cSLE) remain unclear. This study aims to evaluate its efficacy in comparison with belimumab combined with SoC.
Chong Luo, Shu Su, Jingyue Liu, Junyu Lin, Jin Song, Zongwen Chen, Yuanyuan Peng, Lijun Jiang, Meng Jia, Li Wang, Xinhui Jiang, Wei Zhang, Zanhua Rong, Bo Zhao, Yajun Wang, Xuemei Tang   +15 more
wiley   +1 more source

Accommodative intraocular lenses: where are we and where we are going

Eye and Vision, 2017
Presbyopia still remains the last frontier of refractive surgery. Its surgical management is under constant evolution due to the limitations that exist today with respect to its management, which is probably in relation with the multifactorial basis in ...
Jorge L. Alió, Jorge L. Alió del Barrio, Alfredo Vega-Estrada   +2 more
doaj   +1 more source

Treatment of a large cohort of childhood chronic non‐infectious uveitis a multicentric large study: adalimumab versus methotrexate as first line therapy

Arthritis &Rheumatology, Accepted Article.
Background Treatment of childhood chronic idiopathic uveitis (cCIU) is predominantly based on studies in Juvenile Idiopathic Arthritis associated uveitis and expert opinion. Our aim was to report the treatment outcomes of our cohort of cCIU. Methods Retrospective multicenter study involving the rheuma/ophthalmology units at Florence and Bristol.
Ilaria Maccora, Catherine Guly, Cinzia de Libero, Giulia Carreras, Athimalaipet V. Ramanan, Gabriele Simonini   +5 more
wiley   +1 more source