Eating disorders (ED) and obsessive-compulsive disorder (OCD) exhibit significant clinical and genetic overlap, yet their shared molecular mechanisms remain unclear. We conducted a transcriptomic investigation of the dorsolateral prefrontal cortex (DLPFC) and caudate from 86 controls, 57 ED, and 27 OCD cases. ED was associated with robust differentially expressed genes (DEGs): 102 DEGs the DLPFC and 222 in the caudate (FDR < 1%) and replicated in an independent cohort.
View Article and Find Full Text PDFAdenosine deaminases acting on RNA (ADARs) impact diverse cellular processes and pathological conditions, but their functions in early cell-fate specification remain less understood. To gain insights here, we began by charting time-course RNA editing profiles in human organs from fetal to adult stages. Next, we utilized hPSC differentiation to experimentally probe ADARs, harnessing brain organoids as neural specific, and teratomas as pan-tissue developmental models.
View Article and Find Full Text PDFBiol Psychiatry Cogn Neurosci Neuroimaging
November 2024
Objective: Globally, obstetric fistula is a tragic outcome following obstructed labour. Failure of complex repair and post-operative incontinence are common. We describe an innovative surgical technique incorporating the rectus abdominus flap at the time of fistula repair.
View Article and Find Full Text PDFActivity-dependent neuroprotective protein (ADNP) syndrome is a rare neurodevelopmental disorder resulting in intellectual disability, developmental delay and autism spectrum disorder (ASD) and is due to mutations in the ADNP gene. Ketamine treatment has emerged as a promising therapeutic option for ADNP syndrome, showing safety and apparent behavioral improvements in a first open label study. However, the molecular perturbations induced by ketamine remain poorly understood.
View Article and Find Full Text PDFAdaptations of the immune system throughout gestation have been proposed as important mechanisms regulating successful pregnancy. Dysregulation of the maternal immune system has been associated with adverse maternal and fetal outcomes. To translate findings from mechanistic preclinical studies to human pregnancies, studies of serum immune markers are the mainstay.
View Article and Find Full Text PDFAdenosine-to-inosine (A-to-I) editing is a prevalent post-transcriptional RNA modification within the brain. Yet, most research has relied on postmortem samples, assuming it is an accurate representation of RNA biology in the living brain. We challenge this assumption by comparing A-to-I editing between postmortem and living prefrontal cortical tissues.
View Article and Find Full Text PDFThe prefrontal cortex (PFC) is a region of the brain that in humans is involved in the production of higher-order functions such as cognition, emotion, perception, and behavior. Neurotransmission in the PFC produces higher-order functions by integrating information from other areas of the brain. At the foundation of neurotransmission, and by extension at the foundation of higher-order brain functions, are an untold number of coordinated molecular processes involving the DNA sequence variants in the genome, RNA transcripts in the transcriptome, and proteins in the proteome.
View Article and Find Full Text PDFRecovery from respiratory pneumococcal infections generates lung-localized protection against heterotypic bacteria, mediated by resident memory lymphocytes. Optimal protection in mice requires re-exposure to pneumococcus within days of initial infection. Serial surface marker phenotyping of B cell populations in a model of pneumococcal heterotypic immunity revealed that bacterial re-exposure stimulates the immediate accumulation of dynamic and heterogeneous populations of B cells in the lung, and is essential for the establishment of lung resident memory B (B) cells.
View Article and Find Full Text PDFStudy Objective: Fellowship program directors (FPDs) play an important role in the development of fellows and learners, but little is known about their demographics. This cross-sectional study aims to examine the characteristics of minimally invasive gynecologic surgery (MIGS) FPDs.
Design: A retrospective cross-sectional study.
Activity-dependent neuroprotective protein (ADNP) syndrome is a rare neurodevelopmental disorder resulting in intellectual disability, developmental delay and autism spectrum disorder (ASD) and is due to mutations in the gene. Ketamine treatment has emerged as a promising therapeutic option for ADNP syndrome, showing safety and apparent behavioral improvements in a first open label study. However, the molecular perturbations induced by ketamine remain poorly understood.
View Article and Find Full Text PDFApplications of machine learning in the biomedical sciences are growing rapidly. This growth has been spurred by diverse cross-institutional and interdisciplinary collaborations, public availability of large datasets, an increase in the accessibility of analytic routines, and the availability of powerful computing resources. With this increased access and exposure to machine learning comes a responsibility for education and a deeper understanding of its bases and bounds, borne equally by data scientists seeking to ply their analytic wares in medical research and by biomedical scientists seeking to harness such methods to glean knowledge from data.
View Article and Find Full Text PDFCOVID-19 highlighted interconnections between matters of identity and citizenship, vulnerability, and inclusion in/exclusion from systems of care in times of crisis. Migrant workers from Nagaland state, northeast India, were disproportionately impacted by the pandemic's socioeconomic consequences. The public health emergency brought into question who is 'Indian' and the citizenship rights attached to that identity, heightening migrants' exclusion from central structures.
View Article and Find Full Text PDFBackground: The pathophysiology of autism spectrum disorder (ASD) involves genetic and environmental factors. Mounting evidence demonstrates a role for the gut microbiome in ASD, with signaling via short-chain fatty acids (SCFA) as one mechanism. Here, we utilize mice carrying deletion to exons 4-22 of Shank3 (Shank3) to model gene by microbiome interactions in ASD.
View Article and Find Full Text PDFStreptococcus pneumoniae is the most common etiology of bacterial pneumonia, one of the leading causes of death in children and the elderly worldwide. During non-lethal infections with S. pneumoniae, lymphocytes accumulate in the lungs and protect against reinfection with serotype-mismatched strains.
View Article and Find Full Text PDFRock climbing has evolved from a method for alpine mountaineering into a popular recreational activity and competitive sport. Advances in safety equipment and the rapid growth of indoor climbing facilities has enabled climbers to focus on the physical and technical movements needed to elevate performance. Through improved training methods, climbers can now achieve ascents of extreme difficulty.
View Article and Find Full Text PDFStock assessments routinely evaluate the status of commercially harvested species, but seldom account for the possible mortality of released or escaping fish. This study presents a method for estimating the escape survival of the red mullet () from demersal trawling in the Central Mediterranean Sea. Fish escaping from the trawl codend were collected in a detachable cage, which was lined to reduce water flow and protect the sampled fish from further fatigue and injury.
View Article and Find Full Text PDFAutistic adults possess many skills sought by employers, but may be at a disadvantage in the workplace if social-communication differences negatively impact teamwork. We present a novel collaborative virtual reality (VR)-based activities simulator, called ViRCAS, that allows autistic and neurotypical adults to work together in a shared virtual space, offering the chance to practice teamwork and assess progress. ViRCAS has three main contributions: 1) a new collaborative teamwork skills practice platform; 2) a stakeholder-driven collaborative task set with embedded collaboration strategies; and 3) a framework for multimodal data analysis to assess skills.
View Article and Find Full Text PDFAutistic individuals face difficulties in finding and maintaining employment, and studies have shown that the job interview is often a significant barrier to obtaining employment. Prior computer-based job interview training interventions for autistic individuals have been associated with better interview outcomes. These previous interventions, however, do not leverage the use of multimodal data that could give insight into the emotional underpinnings of autistic individuals' challenges in job interviews.
View Article and Find Full Text PDF