Missense variants in RPH3A cause defects in excitatory synaptic function and are associated with a clinically variable neurodevelopmental disorder.

Purpose: RPH3A encodes a protein involved in the stabilization of GluN2A subunit of N-methyl-D-aspartate (NMDA)-type glutamate receptors at the cell surface, forming a complex essential for synaptic plasticity and cognition. We investigated the effect of variants in RPH3A in patients with neurodevelopmental disorders.

Methods: By using trio-based exome sequencing, GeneMatcher, and screening of 100,000 Genomes Project data, we identified 6 heterozygous variants in RPH3A.

Alcohol-related liver disease phenotype impacts survival after an acute variceal bleeding episode.

Background & Aims: Alcohol-related hepatitis (AH) encompasses a high mortality. AH might be a concomitant event in patients with acute variceal bleeding (AVB). The current study aimed to assess the prevalence of AH in patients with AVB and to compare the clinical outcomes of AH patients to other alcohol-related liver disease (ALD) phenotypes and viral cirrhosis.

Spay/neuter laws as a debated approach to stabilizing the populations of dogs and cats: An overview of the European legal framework and remarks.

To reduce the (over) population of unwanted companion non human animals, namely dogs and cats. They are used to lower negative impacts on human societies and on the animals themselves, and opting for the neutering status is usually considered a demonstration of "responsible ownership." In Western countries, however, such provisions are not uniform and must increasingly be balanced with the recognition of animals as sentient beings with interests under the law.

Raising awareness on physician-patient communication in IPF: an Italian multicenter study exploring the pulmonologist's perspective.

Background: Idiopathic pulmonary fibrosis (IPF) remains a debilitating, poor prognosis disease requiring a patient-centered approach.

Objectives: To explore the pulmonologist's perspective on physician-patient communication.

Methods: A faculty of psychologists and pulmonologists organized a training course consisting of two workshops 12 months apart.

Effects of Early Placement of Transjugular Portosystemic Shunts in Patients With High-Risk Acute Variceal Bleeding: a Meta-analysis of Individual Patient Data.

Background & Aims: Compared with drugs plus endoscopy, placement of transjugular portosystemic shunt within 72 hours of admission to the hospital (early or preventive transjugular intrahepatic portosystemic shunt [TIPS], also called preemptive TIPS) increases the proportion of high-risk patients with cirrhosis and acute variceal bleeding who survive for 1 year. However, the benefit of preemptive TIPS is less clear for patients with a Child-Pugh score of B and active bleeding (CP-B+AB). We performed an individual data meta-analysis to assess the efficacy of preemptive TIPS in these patients and identify factors associated with reduced survival of patients receiving preemptive TIPS.

Rebleeding and mortality risk are increased by ACLF but reduced by pre-emptive TIPS.

Background & Aims: The relationship between acute-on-chronic liver failure (ACLF) and acute variceal bleeding (AVB) is poorly understood. Specifically, the prevalence and prognosis of ACLF in the context of AVB is unclear, while the role of transjugular intrahepatic portosystemic shunt (TIPS) in the management in patients with ACLF has not been described to date.

Methods: A multicenter, international, observational study was conducted in 2,138 patients from 34 centers between 2011 and 2015.

Factors affecting Clinical Outcomes after Treatment of Oral Leukoplakia with CO and Diode Laser.

Introduction: To analyze factors that may affect recurrence, development of new lesions, and malignant transformation in patients with oral leukoplakia (OL) following surgical treatment with lasers.

Materials And Methods: A total of 40 patients were enrolled in this study, 17 females (mean age of 64.5 years; 33-88 years) and 23 males (mean age of 56.