Results 101 to 110 of about 835,910 (363)

Costello Syndrome and Ophthalmologic Issues: Unveiling the Unseen

American Journal of Medical Genetics Part A, Volume 197, Issue 7, July 2025.
ABSTRACT Costello syndrome (CS) is an ultra‐rare condition belonging to the RASopathies, a group of disorders characterized by aberrant RAS/MAPK pathway signaling, which is involved in ocular development and in some eye pathologies. However, only a few studies assessing the ophthalmic features of individuals with CS are available.
Sofia Peschiaroli, Germana Viscogliosi, Annabella Salerni, Emanuele Crincoli, Roberta Mattei, Tommaso Verdolotti, Serafina Antonella Loprete, Valentina Trevisan, Giovanni Antonio Marrocco, Alessia Cherubino, Lucrezia Perri, Roberta Onesimo, Giuseppe Zampino, Chiara Leoni   +13 more
wiley   +1 more source

Lesion detection and Grading of Diabetic Retinopathy via Two-stages Deep Convolutional Neural Networks

, 2017
We propose an automatic diabetic retinopathy (DR) analysis algorithm based on two-stages deep convolutional neural networks (DCNN). Compared to existing DCNN-based DR detection methods, the proposed algorithm have the following advantages: (1) Our method
C Cortes, CM Bishop, H Pratt, HT Kam, I Kocur, JE Shaw, M Sankar, MJ Grinsven van, R Srivastava, V Gulshan   +9 more
core   +1 more source

Functional deficits precede structural lesions in mice with high-fat diet-induced diabetic retinopathy [PDF]

, 2016
Obesity predisposes to human type 2 diabetes, the most common cause of diabetic retinopathy. To determine if high-fat diet–induced diabetes in mice can model retinal disease, we weaned mice to chow or a high-fat diet and tested the hypothesis that diet ...
Bligard, Gregory W, Lukasiewicz, Peter, Rajagopal, Rithwick, Semenkovich, Clay F, Yin, Li, Zhang, Sheng   +5 more
core   +2 more sources

Autophagy in Diabetic Retinopathy [PDF]

Current Neuropharmacology, 2016
Autophagy is an important homeostatic cellular process encompassing a number of consecutive steps indispensable for degrading and recycling cytoplasmic materials. Basically autophagy is an adaptive response that under stressful conditions guarantees the physiological turnover of senescent and impaired organelles and, thus, controls cell fate by various
DI ROSA, MICHELINO DANIELE ANTONIO, Distefano G, Gagliano C, Rusciano D, MALAGUARNERA, Lucia   +4 more
openaire   +3 more sources

Survivorship of Individuals With Double Heterozygosity for Achondroplasia and Type 2 Collagenopathy

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Historically, double heterozygosity, or a diagnosis of two separate, dominant genetic conditions, was often thought to be lethal in individuals with autosomal dominant skeletal dysplasias. In previously published studies of individuals with dual dysplasia diagnoses of achondroplasia and type 2 collagenopathy, infants died of respiratory ...
Valerie R. Schwartz, Andrea Schelhaas, Angela L. Duker, Ricki S. Carroll   +3 more
wiley   +1 more source

Retinopathy and Nephropathy in Type 1 Diabetic Patients – Association with Polymorphysms of Vitamin D-Receptor, Tnf, Neuro-D and Il-1 Receptor 1 Genes [PDF]

, 2009
Retinopathy and nephropathy are common late type 1 diabetes mellitus (T1D) complications. In this study we investigated whether individual differences in 4 candidate genes significantly contribute to development and progression of late complications in ...
Davor Galetović, Kajo Bućan, Ljubo Znaor, Milan Ivanišević, Tatijana Zemunik, Veselin Škrabić, Vesna Boraska, Zoran Vatavuk   +7 more
core   +1 more source

Pathological Evidence Exploration in Deep Retinal Image Diagnosis

, 2018
Though deep learning has shown successful performance in classifying the label and severity stage of certain disease, most of them give few evidence on how to make prediction.
Cheng, Tingting, Dai, Xunzhang, Gu, Lin, Lu, Feng, Lv, Feifan, Niu, Yuhao, Sato, Imari, Wang, Zongji, Xiao, Yangyan, Zhang, Zijian   +9 more
core   +1 more source

Longitudinal imaging of microvascular remodelling in proliferative diabetic retinopathy using adaptive optics scanning light ophthalmoscopy [PDF]

, 2016
Purpose To characterise longitudinal changes in the retinal microvasculature of type 2 diabetes mellitus (T2DM) as exemplified in a patient with proliferative diabetic retinopathy (PDR) using an adaptive optics scanning light ophthalmoscope (AOSLO ...
Cheang, Eric, Chui, Toco Yuen Ping, Dubra, Alfredo, Gan, Alexander, Liu, Chun L., Pinhas, Alexander, Razeen, Moataz, Rosen, Richard B., Shah, Nishit   +8 more
core   +2 more sources

Severity of Coronary Artery Disease in Patients with or without Diabetic Retinopathy

Journal of Rawalpindi Medical College, 2017
Background: To determine the frequency of diabetic retinopathy in type 2 diabetic patients undergoing angiographic evaluation and compare the severity (Mean vessel score and mean Gensini score) of coronary artery disease in patients with or without ...
Muhammad Saleem
doaj  

Relationship between plasma growth differentiation factor-15 levels and diabetic retinopathy in individuals with type 2 diabetes

Scientific Reports, 2020
The purpose of our study was to investigate the relationship between plasma growth differentiation factor-15 (GDF-15) concentrations and diabetic retinopathy in patients with type 2 diabetes mellitus (DM).
Jin Ook Chung, Seon-Young Park, Dong Hyeok Cho, Dong Jin Chung, Min Young Chung   +4 more
doaj   +1 more source