UIdataGB: Multi-Class ultrasound images dataset for gallbladder disease detection.

Artificial Intelligence (AI) allows computers to self-develop decision-making algorithms through huge data analysis. In medical investigations, using computers to automatically diagnose diseases is a promising area of research that could change healthcare strategies worldwide. However, it can be challenging to reproduce or/and compare various approaches due to the often-limited datasets comprising medical images.

Detection of Gallbladder Disease Types Using Deep Learning: An Informative Medical Method.

Nowadays, despite all the conducted research and the provided efforts in advancing the healthcare sector, there is a strong need to rapidly and efficiently diagnose various diseases. The complexity of some disease mechanisms on one side and the dramatic life-saving potential on the other side raise big challenges for the development of tools for the early detection and diagnosis of diseases. Deep learning (DL), an area of artificial intelligence (AI), can be an informative medical tomography method that can aid in the early diagnosis of gallbladder (GB) disease based on ultrasound images (UI).

Homozygous mutation in MERTK causes severe autosomal recessive retinitis pigmentosa.

Purpose: Gene identification in retinitis pigmentosa is a prerequisite to future therapies. Accordingly, autosomal recessive retinitis pigmentosa families were genotyped to search for causative mutations.

Methods: Members of a consanguineous Moroccan family had standard ophthalmologic examination, optical coherence tomography-3 scan, autofluorescence testing, and electroretinogram.

Screening genes of the visual cycle RGR, RBP1 and RBP3 identifies rare sequence variations.

The visual cycle is essential for vision and several genes encoding proteins of the cycle have been found mutated in various forms of inherited retinal dystrophy. We screened 3 genes of the visual cycle. RGR, encoding the retinal pigment epithelium (RPE) G protein-coupled receptor acting in vitro as a photoisomerase; RBP1, encoding the ubiquitous cellular retinol binding protein carrying intracellular all-trans retinoids; RBP3, encoding the interphotoreceptor retinoid binding protein, a retinal-specific protein which shuttles all-trans retinol from photoreceptors to RPE and 11-cis retinal from RPE to photoreceptors.

RRH, encoding the RPE-expressed opsin-like peropsin, is not mutated in retinitis pigmentosa and allied diseases.

Many genes from retinoid metabolism cause retinitis pigmentosa. Peropsin, an opsin-like protein with unknown function, is specifically expressed in apical retinal pigment epithelium microvilli. Since rhodopsin and RGR, another opsin-like protein, cause retinitis pigmentosa, we used D-HPLC to screen for the peropsin gene RRH in 331 patients (288 with retinitis pigmentosa and 82 with other retinal dystrophies).

MEFV mutations in Tunisian patients suffering from familial Mediterranean fever.

Objectives: To identify the frequency and distribution of familial Mediterranean fever (FMF) gene (MEFV) mutations in Tunisian patients.

Patients And Methods: This study was performed in the Genetic Department of Tunis University Hospital. A clinical diagnosis of FMF was made according to published criteria.