Prevalence of minor physical anomalies in children with autism spectrum disorder reporting to a tertiary care hospital Lahore-Pakistan.

Objective: To assess the frequency and type of minor physical anomalies (MPAs) in subjects with autism spectrum disorder (ASD).

Methods: This descriptive cross-sectional study was conducted from September, 2016 to October, 2020. Using purposive sampling technique, 147 subjects with ASD were recruited from Children's Hospital and Institute of Child Health (CH & ICH) Lahore, with a confirmed clinical diagnosis by developmental pediatrician, using Diagnostic and Statistical Manual of Mental Disorders (DSM-V).

Biallelic Loss of Function Mutation in Sodium Channel Gene in an Autism Spectrum Disorder Trio from Pakistan.

The genetic dissection of autism spectrum disorders (ASD) has uncovered the contribution of de novo mutations in many single genes as well as de novo copy number variants. More recent work also suggests a strong contribution from recessively inherited variants, particularly in populations in which consanguineous marriages are common. What is also becoming more apparent is the degree of pleiotropy, whereby mutations in the same gene may have quite different phenotypic and clinical consequences.

Postinflammatory rupture of right coronary artery ostium complicating Behçet disease.

Introduction: Behçet disease (BD) is a chronic relapsing inflammatory disease of unknown etiology, characterized by variable clinical manifestations.

Methods: A 28-year-old woman with BD Cardiovascular and Bipolar Disorder underwent emergency surgical treatment of ascending aortic pseudoaneurysm for ruptured right coronary ostium.A modified Bentall procedure with tricuspid annuloplasty, surgical thrombectomy, and a single coronary artery bypass using a saphenous vein graft was performed.

Steric hindrance in the on-surface synthesis of diethynyl-linked anthracene polymers.

Hybrid sp-sp structures can be efficiently obtained on metal substrates on-surface synthesis. The choice of both the precursor and the substrate impacts on the effectiveness of the process and the stability of the formed structures. Here we demonstrate that using anthracene-based precursor molecules on Au(111) the formation of polymers hosting sp carbon chains is affected by the steric hindrance between aromatic groups.