Clinical and genetic characterization of a progressive RBL2-associated neurodevelopmental disorder.

Retinoblastoma (RB) proteins are highly conserved transcriptional regulators that play important roles during development by regulating cell-cycle gene expression. RBL2 dysfunction has been linked to a severe neurodevelopmental disorder. However, to date, clinical features have only been described in six individuals carrying five biallelic predicted loss of function (pLOF) variants.

A focus on c-Jun-N-terminal kinase signaling in sepsis-associated multiple organ dysfunction: Mechanisms and therapeutic strategies.

Sepsis is a life-threatening condition characterized by a widespread inflammatory response to infection, inevitably leading to multiple organ dysfunctions. Extensive research, both in vivo and in vitro, has revealed key factors contributing to sepsis, such as apoptosis, inflammation, cytokine release, oxidative stress, and systemic stress. The changes observed during sepsis-induced conditions are mainly attributed to altered signal transduction pathways, which play a critical role in cell proliferation, migration, and apoptosis.

Clinical Validation of Deep Learning for Segmentation of Multiple Dental Features in Periapical Radiographs.

Periapical radiographs are routinely used in dental practice for diagnosis and treatment planning purposes. However, they often suffer from artifacts, distortions, and superimpositions, which can lead to potential misinterpretations. Thus, an automated detection system is required to overcome these challenges.

BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations.

An increasing number of individuals with intellectual developmental disorder (IDD) and heterozygous variants in BCL11A are identified, yet our knowledge of manifestations and mutational spectrum is lacking. To address this, we performed detailed analysis of 42 individuals with BCL11A-related IDD (BCL11A-IDD, a.k.

Automatic feature segmentation in dental panoramic radiographs.

Objective: The purpose of the present study was to verify the diagnostic performance of an AI system for the automatic detection of teeth, caries, implants, restorations, and fixed prosthesis on panoramic radiography.

Methods: This is a cross-sectional study. A dataset comprising 1000 panoramic radiographs collected from 500 adult patients was analyzed by an AI system and compared with annotations provided by two oral and maxillofacial radiologists.