Bipolar disorder is a leading contributor to the global burden of disease. Despite high heritability (60-80%), the majority of the underlying genetic determinants remain unknown. We analysed data from participants of European, East Asian, African American and Latino ancestries (n = 158,036 cases with bipolar disorder, 2.
View Article and Find Full Text PDFPrecision, or personalized, medicine aims to stratify patients based on variable pathogenic signatures to optimize the effectiveness of disease prevention and treatment. This approach is favorable in the context of brain disorders, which are often heterogeneous in their pathophysiological features, patterns of disease progression and treatment response, resulting in limited therapeutic standard-of-care. Here we highlight the transformative role that human induced pluripotent stem cell (hiPSC)-derived neural models are poised to play in advancing precision medicine for brain disorders, particularly emerging innovations that improve the relevance of hiPSC models to human physiology.
View Article and Find Full Text PDFObjective: The objective of this study is to define the neuropsychiatric challenges including developmental delay, cognitive impairment and psychiatric illness faced by children with perinatally acquired HIV.
Data Sources: Nine databases were searched on 30/05/2023: MEDLINE, Embase, and PsycINFO (all via Ovid SP); CINAHL and Child Development and Adolescent Studies (via EBSCO); the Web of Science Core Collection; Scopus; ProQuest Dissertations and Theses Global; and WHO Global Index Medicus. No limits were applied.
Germline inactivating mutations of the SLC25A1 gene contribute to various human disorders, including Velocardiofacial (VCFS), DiGeorge (DGS) syndromes and combined D/L-2-hydroxyglutaric aciduria (D/L-2HGA), a severe systemic disease characterized by the accumulation of 2-hydroxyglutaric acid (2HG). The mechanisms by which SLC25A1 loss leads to these syndromes remain largely unclear. Here, we describe a mouse model of SLC25A1 deficiency that mimics human VCFS/DGS and D/L-2HGA.
View Article and Find Full Text PDFThe trigeminal ganglion is a critical structure in the peripheral nervous system, responsible for transmitting sensations of touch, pain, and temperature from craniofacial regions to the brain. Trigeminal ganglion development depends upon intrinsic cellular programming as well as extrinsic signals exchanged by diverse cell populations. With its complex anatomy and dual cellular origin from cranial placodes and neural crest cells, the trigeminal ganglion offers a rich context for examining diverse biological processes, including cell migration, fate determination, adhesion, and axon guidance.
View Article and Find Full Text PDFA measure of lifetime brain atrophy (LBA) obtained from a single magnetic resonance imaging (MRI) scan could be an attractive candidate to boost statistical power in uncovering novel genetic signals and mechanisms of neurodegeneration. We analysed data from five young and old adult cohorts (MRi-Share, Human Connectome Project, UK Biobank, Generation Scotland Subsample, and Lothian Birth Cohort 1936 [LBC1936]) to test the validity and utility of LBA inferred from cross-sectional MRI data, i.e.
View Article and Find Full Text PDFRenal cell carcinoma (RCC) is the seventh most common cancer in the United States; clear cell RCC (ccRCC) is the most common subtype. We report a case of spontaneous regression of metastatic ccRCC and discuss possible underlying mechanisms informed by a literature review. While regression of metastatic RCC has been described following nephrectomy or treatment of the primary tumor, spontaneous regression is rare.
View Article and Find Full Text PDFMusic-based interventions are a common feature in long-term care with clinical reports highlighting music's ability to engage individuals with complex diagnoses. While these findings are promising, normative findings from healthy controls are needed to disambiguate treatment effects unique to pathology and those seen in healthy aging. The present study examines brain network dynamics during music listening in a sample of healthy older adults before and after a music-based intervention.
View Article and Find Full Text PDFStroke causes pronounced and widespread slowing of neural activity. Despite decades of work exploring these abnormal neural dynamics and their associated functional impairments, their causes remain largely unclear. To close this gap in understanding, we applied a neurophysiological corticothalamic circuit model to simulate magnetoencephalography (MEG) power spectra recorded from chronic stroke patients.
View Article and Find Full Text PDFAlthough specific risk factors for brain alterations in bipolar disorders (BD) are currently unknown, obesity impacts the brain and is highly prevalent in BD. Gray matter correlates of obesity in BD have been well documented, but we know much less about brain white matter abnormalities in people who have both obesity and BD. We obtained body mass index (BMI) and diffusion tensor imaging derived fractional anisotropy (FA) from 22 white matter tracts in 899 individuals with BD, and 1287 control individuals from 20 cohorts in the ENIGMA-BD working group.
View Article and Find Full Text PDFHuman-wildlife conflict is a global conservation issue, necessitating effective mitigation strategies. Hunting is a common management approach to reduce conflict, but the indirect consequences are often overlooked. Chronic hunting-related disturbance can reduce fitness and redistribute species.
View Article and Find Full Text PDFStudy Design: Retrospective multicenter cohort study.
Objective: To investigate the impact of night-time bracing (NTB) and full-time bracing (FTB) on the sagittal profile in adolescent idiopathic scoliosis (AIS) patients.
Summary Of Background Data: Recent studies have shown that FTB in AIS patients may induce hypokyphosis.
Compensatory density-dependent (DD) processes play an integral role in fisheries management by underpinning fundamental population demographics. However, DD processes are often assessed only for specific life stages, likely resulting in misleading evaluations of population limitations. Here, we assessed the relative roles of intra- and inter-life stage DD interactions in shaping the population dynamics of perennial freshwater fish with demographically open populations.
View Article and Find Full Text PDFThe global population is aging rapidly, and a research question of critical importance is why some older adults suffer tremendous cognitive decline while others are mostly spared. Past aging research has shown that older adults with spared cognitive ability have better local short-range information processing while global long-range processing is less efficient. We took this research a step further to investigate whether the underlying structural connections, measured in vivo using diffusion magnetic resonance imaging (dMRI), show a similar shift to support cognitive ability.
View Article and Find Full Text PDFLisdexamfetamine dimesylate, a prodrug stimulant, appears to effectively treat Attention-Deficit/Hyperactivity Disorder (ADHD) in children and adults. However, an analysis of the treatment effects of the two subscales (inattentiveness and hyperactivity) within the ADHD Rating Scale-IV (ADHD-RS-IV) has not yet been done to determine if clinical significance may be attributed to either one. Nor has there been a meta-analysis of the individual doses of lisdexamfetamine dimesylate.
View Article and Find Full Text PDFPurpose: To examine if coronal deformity angular ratio (C-DAR) serves as a predictor for progression to surgical magnitude in patients with Adolescent Idiopathic Scoliosis (AIS) treated with thoracolumbar sacral orthosis (TLSO).
Methods: Patients with AIS, prescribed a full-time TLSO, Cobb angle 20-40°, Risser 0-2, who wore the brace ≥ 12.9 h and reached skeletal maturity/surgery were included retrospectively.
Background: Plasma growth differentiation factor 15 (GDF15) and N-terminal proB-type natriuretic peptide (NT-proBNP) are cardiovascular biomarkers that associate with a range of diseases. Epigenetic scores (EpiScores) for GDF15 and NT-proBNP may provide new routes for risk stratification.
Results: In the Generation Scotland cohort (N ≥ 16,963), GDF15 levels were associated with incident dementia, ischaemic stroke and type 2 diabetes, whereas NT-proBNP levels were associated with incident ischaemic heart disease, ischaemic stroke and type 2 diabetes (all P < 0.
Background: Remission of early type 2 diabetes (T2D) is possible; however, diet programmes proven effective are unaffordable in many southeast Asian populations where T2D is more frequent and more aggressive at lower body weight and younger age. We evaluate an entirely food-based service.
Methods: This study employed a single-arm intervention and follow-up design for intervention evaluation in existing hospital people with T2D of under 5 years known duration.
The trigeminal ganglion is a critical structure in the peripheral nervous system, responsible for transmitting sensations of touch, pain, and temperature from craniofacial regions to the brain. Trigeminal ganglion development depends upon intrinsic cellular programming as well as extrinsic signals exchanged by diverse cell populations. With its complex anatomy and dual cellular origin from cranial placodes and neural crest cells, the trigeminal ganglion offers a rich context for examining diverse biological processes, including cell migration, fate determination, adhesion, and axon guidance.
View Article and Find Full Text PDFMore than half of the world's rivers dry up periodically, but our understanding of the biological communities in dry riverbeds remains limited. Specifically, the roles of dispersal, environmental filtering and biotic interactions in driving biodiversity in dry rivers are poorly understood. Here, we conduct a large-scale coordinated survey of patterns and drivers of biodiversity in dry riverbeds.
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