Novel biallelic nonsense mutation in IGHMBP2 gene linked to neuropathy (CMT2S): A comprehensive clinical, genetic and bioinformatic analysis of a Turkish patient with literature review.

Background: Spinal muscular atrophy with respiratory distress type 1 (SMARD1) and Charcot-Marie-Tooth type 2S (CMT2S) typically present before age 10. Genetic factors account for up to 50 % of neuropathies, which often display varied symptoms. Mutations in the IGHMBP2 gene are associated with both CMT2S and SMARD1, resulting in a rare clinical condition marked by axonal neuropathy, spinal muscular atrophy, respiratory distress, and muscle weakness.

Metabolic Deficiencies Underlie Plasmacytoid Dendritic Cell Exhaustion After Viral Infection.

Type I Interferons (IFN-I) are central to host protection against viral infections . While any cell can produce IFN-I, Plasmacytoid Dendritic Cells (pDCs) make greater quantities and more varieties of these cytokines than any other cell type . However, following an initial burst of IFN- I, pDCs lose their exceptional IFN-I production capacity and become "exhausted", a phenotype that associates with enhanced susceptibility to secondary infections .

Risk factors for carbapenem-resistant infections in Intensive Care Units: a multicentre case-control study with a competing-risks analysis.

Aim: This study investigated the risk factors for the development of carbapenem-resistant Klebsiella pneumoniae (CRKP) infections in adult patients in Intensive Care Units (ICUs).

Methods: A multicentre case-control study was conducted in ICUs in three tertiary hospitals in Turkey. The cases were patients culture-confirmed CRKP and a condition associated with healthcare-associated infections.

Face Generation and Editing With StyleGAN: A Survey.

Our goal with this survey is to provide an overview of the state of the art deep learning methods for face generation and editing using StyleGAN. The survey covers the evolution of StyleGAN, from PGGAN to StyleGAN3, and explores relevant topics such as suitable metrics for training, different latent representations, GAN inversion to latent spaces of StyleGAN, face image editing, cross-domain face stylization, face restoration, and even Deepfake applications. We aim to provide an entry point into the field for readers that have basic knowledge about the field of deep learning and are looking for an accessible introduction and overview.

The Relationship Between Communicative Actions, Behavioral Intentions, and Corporate Reputation in the Framework of Situational Theory of Problem Solving in a Public Health Crisis.

This study aims to determine the individuals' communicative actions based on the basic assumptions of the situational theory of problem solving (STOPS) and the effect of these actions on people's willingness to follow WHO's instructions in the event of an epidemic. It also seeks to determine the impact of corporate reputation on people's communicative actions and intention to follow instructions. Data were collected digitally from 261 graduate students enrolled at a state university in the Eastern Anatolia Region of Turkey.