Results 51 to 60 of about 64,976 (308)

Diabetic Retinopathy Classification With Convolutional Neural Networks Designed by the Fuzzy Grey Wolf Optimizer With Parameter Adaptation

open access: yesAI &Innovation, EarlyView.
ABSTRACT The detection and classification of diseases have become a field of interest for artificial intelligence in recent years, where the development of methods and models that allow support for specialists in different health fields has allowed early detection of diseases and the provision of timely treatment to patients.
Rodrigo Cordero‐Martínez   +2 more
wiley   +1 more source

Phenotype Expansion of Malan Syndrome: New Cases and a Review of the Literature

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Malan syndrome is an ultra‐rare overgrowth syndrome caused by pathogenic variants or deletions in nuclear factor one X (NFIX) located at 19p13.2. Here, we report a comprehensive literature review and phenotyping of known patients with Malan syndrome and present a novel cohort of eight patients.
Alex F. Nisbet   +10 more
wiley   +1 more source

Gender Differences in the Association Between Cataract and Mental Health in Adults With Diabetes: A Cross-Sectional Analysis From the Spanish National Health Survey 2017

open access: yesFrontiers in Public Health, 2021
Objective: This study aimed to explore gender differences in the associations between cataracts and self-reported depression and chronic anxiety in Spanish adults with diabetes.Methods: Cross-sectional data from the Spanish Health Survey 2017 were ...
Guillermo F. López Sánchez   +7 more
doaj   +1 more source

Grading infantile cataracts

open access: yes, 2006
Purpose: To introduce and describe two methods of grading the severity of infantile cataracts, and thereby propose a useful clinical guide for early surgical intervention.
Forster, J. E.   +3 more
core   +1 more source

Surgical Outcomes in Radiation-induced Cataracts After External-beam Radiotherapy in Retinoblastoma [PDF]

open access: yes, 2018
Objectives: To investigate visual outcomes, surgical complications and tumor recurrence among children with retinoblastoma undergoing phacoemulsification and posterior chamber intraocular lens (PCIOL) implantation for radiation-induced cataract ...
Bayraktar, Serife   +9 more
core   +1 more source

High‐Resolution Genomic Characterization of WAGR Spectrum Disorder: Insights From a Novel Cohort and Literature Synthesis, and Validation of Patient‐Reported Data

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT WAGR spectrum disorder (WAGRSD) is an ultra‐rare congenital disorder caused by heterozygous deletion of chromosome 11p13. While classically associated with Wilms tumor, Aniridia, Genitourinary anomalies, and a Range of developmental delays, accurate delineation of the deletion is critical for prognosis because the phenotypic spectrum extends ...
Andrew M. George   +11 more
wiley   +1 more source

2020 CATARACTS Semantic Segmentation Challenge

open access: yes, 2021
Surgical scene segmentation is essential for anatomy and instrument localization which can be further used to assess tissue-instrument interactions during a surgical procedure.
Huber, M.   +39 more
core   +1 more source

Current Approach to the Pathogenesis of Diabetic Cataracts

open access: yes, 2023
Cataracts remain the first or second leading cause of blindness in all world regions. In the diabetic population, cataracts not only have a 3–5 times higher incidence than in the healthy population but also affect people at a younger age.
Katarzyna Zorena   +3 more
core   +1 more source

Defining Features of Gabriele‐de Vries Syndrome in Adults: A Case Report and Literature Review

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gabriele‐de Vries syndrome (GADEVS) is a neurodevelopmental disorder caused by heterozygous pathogenic variants in the YY1 gene. Like most rare genetic syndromes, the adult manifestations of GADEVS remain poorly defined. Here, we describe the oldest patient reported to date with GADEVS—a 63‐year‐old woman with a c.1177_1179del YY1 variant ...
Ethan W. Hollingsworth, Changrui Xiao
wiley   +1 more source

Streamlining Diagnosis of Bardet–Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Considerable advances have been made in our understanding of Bardet–Biedl syndrome (BBS), particularly in its core clinical features and molecular genetics, warranting an update to the existing diagnostic criteria framework. Using a rigorous, evidence‐based, and consensus‐driven process, a multidisciplinary group of international experts and ...
Jeremy J. Pomeroy   +16 more
wiley   +1 more source

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