Genetic variants in DDX53 contribute to autism spectrum disorder associated with the Xp22.11 locus.

Autism spectrum disorder (ASD) exhibits an ∼4:1 male-to-female sex bias and is characterized by early-onset impairment of social/communication skills, restricted interests, and stereotyped behaviors. Disruption of the Xp22.11 locus has been associated with ASD in males.

Advancements in Loop Cyclization Approaches for Enhanced Peptide Therapeutics for Targeting Protein-Protein Interactions.

Protein-protein interactions (PPIs) are pivotal in regulating cellular functions and life processes, making them promising therapeutic targets in modern medicine. Despite their potential, developing PPI inhibitors poses significant challenges due to their large and shallow interfaces that complicate ligand binding. This study focuses on mimicking peptide loops as a strategy for PPI inhibition, utilizing synthetic peptide loops for replicating critical binding regions.

Fluoroscopically measured bronchial collapse in healthy dogs during cough exceeds 25%, and a cutoff of 60% bronchial collapse can be used to distinguish healthy from chronically coughing dogs.

Bronchomalacia, the weakening of bronchial cartilage, is a common cause of cough in dogs. The gold standard for diagnosis of bronchomalacia is bronchoscopy; however, fluoroscopy is often used as a preliminary diagnostic test due to its noninvasiveness. The normal amount of bronchial collapse in healthy dogs using fluoroscopy has not been previously established, with some authors citing <25%.

Can we reach suitable Tb purity for medical applications using the Gd(d,n) reaction?

Terbium is a chemical element that has several radioactive isotopes with suitable physical characteristics to be used in medical applications either for imaging or for therapy. This makes terbium a promising element to implement the theranostic approach. For therapeutic applications, Tb (T = 6.

The incidence of congenital pseudarthrosis of the clavicle and review of the literature.

The aim of this study was to identify the hitherto unknown incidence of congenital pseudarthrosis of the clavicle (CPC), based on a cohort of continuous livebirths born in our hospital, to review the literature and investigate if there is evidence supporting the published association between left-sided CPC and dextrocardia. From our electronic medical record and radiology databases, we identified all live births and patients with the diagnosis of CPC born from 2000 to 2016. We reviewed the imaging which included one or both clavicles to search for unrecorded CPC cases and reviewed all retrievable CPC publications listed in PubMed and publications quoted within these publications going back to 1910.

Five-year results after total knee arthroplasty in lymphoedema and lipoedema: encouraging functional and clinical outcomes and low rates of infection.

Background: The aim of this study was to define outcomes after total knee arthroplasty (TKA) in lymphoedema and lipoedema patients managed by a multidisciplinary team and daily compression bandaging.

Methods: A retrospective study was performed in a single centre. Between 2007 and 2018, 36 TKA procedures were performed on 28 consecutive patients with a diagnosis of lymphoedema and lipoedema.

ADGRL1 haploinsufficiency causes a variable spectrum of neurodevelopmental disorders in humans and alters synaptic activity and behavior in a mouse model.

ADGRL1 (latrophilin 1), a well-characterized adhesion G protein-coupled receptor, has been implicated in synaptic development, maturation, and activity. However, the role of ADGRL1 in human disease has been elusive. Here, we describe ten individuals with variable neurodevelopmental features including developmental delay, intellectual disability, attention deficit hyperactivity and autism spectrum disorders, and epilepsy, all heterozygous for variants in ADGRL1.

Changes in glucose tolerance and insulin secretion in a cohort of cats with chronic obesity.

Obesity, which is the most common spontaneous nutritional disorder in cats, is a known risk factor for the development of diabetes mellitus and has been linked to insulin resistance, hyperinsulinemia, and altered adipose-derived hormone secretion in cats. The objective of this study was to monitor and report changes in the results of serial intravenous glucose tolerance testing (IVGTT) and other metabolic parameters in 4 obese cats over a 4-year period. Serial IVGTT, insulin sensitivity indices, adipokine concentrations, and lipid profiles were evaluated.

Comparison of intraosseous and intravenous iodinated contrast administration for CT imaging in Hispaniolan Amazon parrots (Amazona ventralis).

Establishing and maintaining intravenous access for contrast medium during CT imaging can be difficult in birds due to their small size and thin walled vessels. Intraosseous (IO) catheters are an alternative to intravenous catheters and are often used for fluid or medication administration in birds. To determine the feasibility of IO iodinated contrast enhancement for CT in birds, 10 adult Hispaniolan Amazon parrots (Amazona ventralis) weighing 260-325 g, were enrolled in a prospective randomized blinded crossover group study to evaluate the differences in contrast route administration.