Results 121 to 130 of about 680,290 (258)

Risk Factors in Ocular Hypertension

open access: yes, 1997
The aim of the study was to determine whether certain factors are related to an increased risk of developing open-angle glaucoma. A total of 345 untreated glaucoma suspects with intraocular pressure (IOP) ≥ 21 mmHg, cup to disc ratio 0.4 or less and no ...
N. Liokis   +5 more
core   +1 more source

Severe ADEM‐Like Neuroinflammatory Disease and Cerebrovascular Fragility With Recurrent Pseudoaneurysms and Moyamoya in a Familial Germline CBL Mutation: Expanding the Clinical Phenotype

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous germline variants in CBL disrupt its function as a negative regulator of the Ras/MAPK pathway, classically predisposing to Juvenile myelomonocytic leukemia (JMML) and moyamoya. We describe two affected siblings carrying a paternally inherited CBL variant (c.1210 T> C, p.
Michal Bar‐Hakim   +12 more
wiley   +1 more source

Subconjunctival hemorrhage: risk factors and potential indicators

open access: yesClinical Ophthalmology, 2013
Bercin Tarlan,1 Hayyam Kiratli21Department of Ophthalmology, Kozluk State Hospital, Batman, Turkey; 2Ocular Oncology Service, Hacettepe University Schoolof Medicine, Ankara, TurkeyAbstract: Subconjunctival hemorrhage is a benign disorder that is a common
Tarlan B, Kiratli H
doaj  

Efficacy of the novel MIGS implant Wistend compared to Kahook Dual Blade in the treatment of experimental ocular hypertension in rabbits

open access: yesScientific Reports
To evaluate and compare the efficacy of novel microinvasive glaucoma surgery (MIGS) device implants Wistend and Kahook Dual Blade (KDB) in an experimental ocular hypertension model. Twelve New Zealand white rabbits were randomized into four groups (blank,
Yu Zhang   +10 more
doaj   +1 more source

Screening and management of hypertensive patients with chronic kidney disease referred to Hypertension Excellence Centres among 27 countries. A pilot survey based on questionnaire.

open access: yes
Real-life management of hypertensive patients with chronic kidney disease (CKD) is unclear. A survey was conducted in 2023 by the European Society of Hypertension (ESH) to assess management of CKD patients referred to ESH-Hypertension Excellence Centres (
Mayer, G.   +84 more
core   +1 more source

Ocular and Systemic Findings in COL2A1 and COL11A1 Stickler Syndrome

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Stickler syndrome is most commonly caused by variants in COL2A1 and COL11A1 genes. The purpose of this study was to describe genetic variants and phenotypes in COL2A1 and COL11A1 Stickler syndrome. We performed a retrospective genotype–phenotype evaluation of COL2A1 and COL11A1 Stickler syndrome subjects. Thirty‐two subjects with COL2A1 and 13
Aileen G. MacLachlan   +5 more
wiley   +1 more source

Steroid-Induced Ocular Hypertension in Children: A Review on Risk Factors

open access: yes
Steroid-induced ocular hypertension is poorly understood in children, despite its frequent occurrence. Significant knowledge voids exist in steroid responsiveness, especially in the pediatric population.
Marin, Alejandro   +2 more
core   +1 more source

An Adult Presentation of KIF11‐Related MCLID Syndrome: Case Report and 40‐Year Follow‐Up

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in KIF11 are linked to autosomal dominant syndromes with microcephaly, chorioretinopathy, lymphedema, and intellectual disability (MCLID), though adult presentations remain underreported. We report a 42‐year‐old female presenting with a de novo single‐amino acid in‐frame deletion in the KIF11 gene (c.1294_1296del; p ...
Thrishna Chathurvedula   +8 more
wiley   +1 more source

The Glycine Allele of a Glycine/Arginine Polymorphism in the Beta2- Adrenergic Receptor Gene Is Associated with Essential Hypertension in a Population of Chinese Origin

open access: yes, 2009
BACKGROUND: Several studies implicate polymorphisms in the human beta- adrenergic receptor gene (ADRB2) in the susceptibility to hypertension. We sought to replicate these results in a population of Chinese origin primarily from Taiwan and the San ...
熊昭;江福田   +1 more
core  

A Rare Form of Microcephalic Primordial Dwarfism due to NSMCE2 Deficiency (Seckel Syndrome Type 10): A Report of Macular Involvement

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Biallelic variants in NSMCE2 (MMS21), which encodes the SUMO E3 ligase subunit of the SMC5/6 chromatin‐maintenance complex, have recently been implicated in microcephalic primordial dwarfism (MPD), corresponding to Seckel syndrome type 10 (OMIM #617246).
Cristina Peduto   +5 more
wiley   +1 more source

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