Prenatal Coffin-Siris Syndrome: Expanding the Phenotypic and Genotypic Spectrum of the Disease.

Coffin-Siris syndrome is an autosomal dominant disorder with neurological, cardiovascular, and gastrointestinal symptoms. Patients with Coffin-Siris syndrome typically have variable degree of developmental delay or intellectual disability, muscular hypotonia, dysmorphic facial features, sparse scalp hair, but otherwise hirsutism and fifth digit nail or distal phalanx hypoplasia or aplasia. Coffin-Siris syndrome is caused by pathogenic variants in 12 different genes including and .

Study protocol for a randomized controlled trial with rituximab for psychotic disorder in adults (RCT-Rits).

Background: The role of inflammation in the aetiology of schizophrenia has gained wide attention and research on the association shows an exponential growth in the last 15 years. Autoimmune diseases and severe infections are risk factors for the later development of schizophrenia, elevated inflammatory markers in childhood or adolescence are associated with a greater risk of schizophrenia in adulthood, individuals with schizophrenia have increased levels of pro-inflammatory cytokines compared to healthy controls, and autoimmune diseases are overrepresented in schizophrenia. However, treatments with anti-inflammatory agents are so far of doubtful clinical relevance.

Overlap between EEC and AEC syndrome and immunodeficiency in a preterm infant with a TP63 variant.

Pathogenic variants in the transcription factor TP63 gene cause a variety of clinical phenotypes, such as ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome and ankyloblepharon-ectodermal dysplasia-clefting (AEC) syndrome. Historically, TP63-related phenotypes have been divided into several syndromes based on both the clinical presentation and location of the pathogenic variant on the TP63 gene. This division is complicated by significant overlap between syndromes.

Efficacy and Safety of Rituximab for New-Onset Generalized Myasthenia Gravis: The RINOMAX Randomized Clinical Trial.

Importance: Rituximab is a third-line option for refractory generalized myasthenia gravis (MG) based on empirical evidence, but its effect in new-onset disease is unknown.

Objective: To investigate the efficacy and safety of rituximab compared with placebo as an add-on to standard of care for MG.

Design, Setting, And Participants: This randomized, double-blind, placebo-controlled study took place throughout 48 weeks at 7 regional clinics in Sweden.

Dissimilar Laser Welding of Austenitic Stainless Steel and Abrasion-Resistant Steel: Microstructural Evolution and Mechanical Properties Enhanced by Post-Weld Heat Treatment.

In this study, ultra-high-strength steels, namely, cold-hardened austenitic stainless steel AISI 301 and martensitic abrasion-resistant steel AR600, as base metals (BMs) were butt-welded using a disk laser to evaluate the microstructure, mechanical properties, and effect of post-weld heat treatment (PWHT) at 250 °C of the dissimilar joints. The welding processes were conducted at different energy inputs (EIs; 50-320 J/mm). The microstructural evolution of the fusion zones (FZ) in the welded joints was examined using electron backscattering diffraction (EBSD) and laser scanning confocal microscopy.