Single cell analysis of dup15q syndrome reveals developmental and postnatal molecular changes in autism.

Duplication 15q (dup15q) syndrome is the most common genetic cause of autism spectrum disorder (ASD). Due to a higher genetic and phenotypic homogeneity compared to idiopathic autism, dup15q syndrome provides a well-defined setting to investigate ASD mechanisms. Previous bulk gene expression studies identified shared molecular changes in ASD.

Novel approaches to determine the functional role of cardiomyocyte specific E3 ligase, Pellino-1 following myocardial infarction.

Objectives: Ubiquitination plays a vital role in controlling vascular inflammation, cellular protein quality control, and minimizing misfolded protein toxicity. Pellino-1 (Peli1), a type of E3 ubiquitin ligase, has emerged as a critical regulator of the innate immune response; however, its role in the repair and regeneration of ischemic myocardium remains to be elucidated.

Methods: Mice (8-12 weeks old, male and females) were divided into (i) Wild type (ii) cardiomyocyte-specific Peli1 overexpressed (AMPEL1), (iii) cardiomyocyte-specific Peli1 knockout (CP1KO) and were subjected to sham and left anterior descending artery ligation.

Efficacy of a Novel Electroconductive Matrix To Treat Muscle Atrophy and Fat Accumulation in Chronic Massive Rotator Cuff Tears of the Shoulder.

The high retear rate after a successful repair of the rotator cuff (RC) is a major clinical challenge. Muscle atrophy and fat accumulation of RC muscles over time adversely affect the rate of retear. Since current surgical techniques do not improve muscle degenerative conditions, new treatments are being developed to reduce muscle atrophy and fat accumulation.

The Use of Small-Molecule Compounds for Cell Adhesion and Migration in Regenerative Medicine.

Cell adhesion is essential for cell survival, communication, and regulation, and it is of fundamental importance in the development and maintenance of tissues. Cell adhesion has been widely explored due to its many important roles in the fields of tissue regenerative engineering and cell biology. This is because the mechanical interactions between a cell and its extracellular matrix (ECM) can influence and control cell behavior and function.

Comparison of trans-gastric trans-enteric (trans-duodenal or trans-jejunal) endoscopic ultrasound guided gallbladder drainage using lumen apposing metal stents.

Background: Endoscopic ultrasound guided gallbladder drainage (EUS-GBD) is being increasingly used in practice (either as a bridge to cholecystectomy in high-risk patients or as destination therapy in non-surgical patients). Stents are used to create a conduit between the lumen of the gallbladder (GB) and the intestinal lumen through the gastric or enteric routes. Among the various types of stents used, cautery-enhanced lumen apposing metallic stents (LAMS) may be associated with fewer adverse events (AEs).

Exposure-response relation for vibration-induced white finger: effect of different methods for predicting prevalence.

A pooled analysis of vibration-induced white finger (VWF) in population groups of workers has been performed using the results of a published meta-analysis as source material (Nilsson T, Wahlström J, Burström L. Hand-arm vibration and the risk of vascular and neurological diseases a systematic review and meta-analysis. PLoS One.

Baseline immune states (BIS) associated with vaccine responsiveness and factors that shape the BIS.

Vaccines are among the greatest inventions in medicine, leading to the elimination or control of numerous diseases, including smallpox, polio, measles, rubella, and, most recently, COVID-19. Yet, the effectiveness of vaccines varies among individuals. In fact, while some recipients mount a robust response to vaccination that protects them from the disease, others fail to respond.

Atraumatic Sternoclavicular Joint Instability: Prevalence, Etiology, and Management.

Sternoclavicular joint instability is a rare complaint in the orthopedic clinic, but patients can experience chronic pain and functional impacts. Causes of instability may be posttraumatic, infectious, autoimmune, degenerative, or secondary to generalized laxity. Conservative treatment is the initial approach to management and involves activity modification, physical therapy, oral nonsteroidal anti-inflammatory drugs, and corticosteroid injections.

Is there an association between physical activity and lower urinary tract symptoms in adolescent girls? Results from the Avon Longitudinal Study of Parents and Children.

Introduction And Hypothesis: Lower urinary tract symptoms (LUTS) are common among adolescent girls. Physical activity (PA) has been implicated as both a risk (high-impact PA) and protective factor (low-impact, moderate to vigorous intensity PA) for LUTS in adult women, but its role in adolescent girls is unclear. This study investigated the prospective association between physical activity and LUTS risk in adolescent girls.

Secondary analysis of a randomized trial testing community health educator interventions for diabetes prevention among refugees with depression: effects on nutrition, physical activity and sleep.

Background: Refugees have high levels of psychological distress that hamper lifestyle change efforts. We previously reported that community health educator (CHE) diabetes prevention interventions decreased HbA1c and depressive symptoms among Cambodian-American refugees with depression; this paper reports health behavior outcomes of those interventions.

Methods: Participants were aged 35-75, Khmer speaking, at risk for diabetes, and met study criteria for likely depression by either a) antidepressant medication and/or b) prolonged elevated depressive symptoms.

Influence of Vitamin D Deficiency on Cyclin D1-Induced Parathyroid Tumorigenesis.

Primary hyperparathyroidism (PHPT) is a common endocrinopathy for which several pathogenic mechanisms, including cyclin D1 overexpression, have been identified. Vitamin D nutritional status may influence parathyroid tumorigenesis, but evidence remains circumstantial. To assess the potential influence of vitamin D insufficiency/deficiency on initiation or progression of parathyroid tumorigenesis, we superimposed vitamin D insufficiency or deficiency on parathyroid tumor-prone parathyroid hormone-cyclin D1 transgenic mice.

Gelatin Methacryloyl (GelMA) Hydrogel Scaffolds: Predicting Physical Properties Using an Experimental Design Approach.

There is a growing interest for complex in vitro environments that closely mimic the extracellular matrix and allow cells to grow in microenvironments that are closer to the one in vivo. Protein-based matrices and especially hydrogels can answer this need, thanks to their similarity with the cell microenvironment and their ease of customization. In this study, an experimental design was conducted to study the influence of synthesis parameters on the physical properties of gelatin methacryloyl (GelMA).

Rare variant modifier analysis identifies variants in SEC24D associated with orofacial cleft subtypes.

As one of the most common structural birth defects, orofacial clefts (OFCs) have been studied for decades, and recent studies have demonstrated that there are genetic differences between the different phenotypic presentations of OFCs. However, the contribution of rare genetic variation genome-wide to different subtypes of OFCs has been understudied, with most studies focusing on common genetic variation or rare variation within targeted regions of the genome. Therefore, we used whole-genome sequencing data from the Gabriella Miller Kids First Pediatric Research Program to conduct a gene-based burden analysis to test for genetic modifiers of cleft lip (CL) vs cleft lip and palate (CLP).

Breast cancer metastasizing to the upper gastrointestinal tract (the esophagus and the stomach): A comprehensive review of the literature.

Breast cancer can infrequently metastasize to the upper gastrointestinal (GI) tract but the exact incidence is not well established-there is considerable variation between incidence reported from clinical studies and incidence noted in autopsy series. Clinical presentation can be very non-specific and often mimics primary gastrointestinal conditions. Endoscopy alone may not be sufficient to make a diagnosis and misdiagnosis is also common.

Education and Training Models for Remote Learning.

Our international partnerships have fostered longstanding collaborative relationships leading to the development of unique, locally-designed, and sustainable training programs that serve as models for global health education and cooperation.

Experimental upregulation of developmentally downregulated ribosomal protein large subunits 7 and 7A promotes axon regeneration after injury in vivo.

Ribosomal proteins are involved in neurodevelopment and central nervous system (CNS) disease and injury. However, the roles of specific ribosomal protein subunits in developmental axon growth, and their potential as therapeutic targets for treating CNS injuries, are still poorly understood. Here, we show that ribosomal protein large (Rpl) and small (Rps) subunit genes are substantially (56-fold) enriched amongst the genes, which are downregulated during maturation of retinal ganglion cell (RGC) CNS projection neurons.

Radiation-induced dormancy of intracerebral melanoma: endotoxin inflammation leads to both shortened tumor dormancy and long-term survival with localized senescence.

Radiation therapy (RT) treats approximately half of all cancers and most brain cancers. RT is variably effective at inducing a dormant tumor state i.e.

Activation of endothelial TRPM2 exacerbates blood-brain barrier degradation in ischemic stroke.

Aims: Damage of the blood-brain barrier (BBB) is a hallmark of brain injury during the early stages of ischemic stroke. The subsequent endothelial hyperpermeability drives the initial pathological changes and aggravates neuronal death. Transient receptor potential melastatin 2 (TRPM2) is a Ca2+-permeable nonselective cation channel activated by oxidative stress.