Integration of 168,000 samples reveals global patterns of the human gut microbiome.

The factors shaping human microbiome variation are a major focus of biomedical research. While other fields have used large sequencing compendia to extract insights requiring otherwise impractical sample sizes, the microbiome field has lacked a comparably sized resource for the 16S rRNA gene amplicon sequencing commonly used to quantify microbiome composition. To address this gap, we processed 168,464 publicly available human gut microbiome samples with a uniform pipeline.

BuDDI: Bulk Deconvolution with Domain Invariance to predict cell-type-specific perturbations from bulk.

While single-cell experiments provide deep cellular resolution within a single sample, some single-cell experiments are inherently more challenging than bulk experiments due to dissociation difficulties, cost, or limited tissue availability. This creates a situation where we have deep cellular profiles of one sample or condition, and bulk profiles across multiple samples and conditions. To bridge this gap, we propose BuDDI (BUlk Deconvolution with Domain Invariance).

Temporomandibular disorders: A new list of key points to summarize the standard of care.

This letter is being sent to editors of major dental journals around the world. Attached to it is an Announcement that summarizes a recently published position paper which deals with the topic of standards of care for Temporomandibular Disorders (TMDs). That paper, entitled "Temporomandibular disorders: INfORM/IADR key points for good clinical practice based on standard of care", was developed by a group of expert researchers and clinicians over a one-year period.

Development and Implementation of a Context-Specific Multi-modal Point-of-Care Ultrasound Curriculum for a Kenyan Family Medicine Residency Program.

Access to diagnostic imaging is significantly limited in much of the world, and sub-Saharan Africa is no exception. Clinician-performed point-of-care ultrasound (POCUS) may provide increased access to diagnostic imaging for many patients in low-resource settings, but training in this modality is limited. We describe the development and implementation of a context-specific, multi-modal pilot POCUS curriculum involving hands-on instruction, in-person and online didactics, asynchronous online image review, and quantitative evaluation.

Significant reduction in blood product usage, same early outcomes: Blood conservation in infants undergoing open heart surgery.

Objective: To evaluate the effect of a blood conservation program on trends in use of donor blood products and early clinical outcomes in infants undergoing open heart surgery.

Methods: Four hundred nine patients younger than age 1 year undergoing open-heart surgery between October 1, 2020, and June 30, 2023, were reviewed. The study period was divided into 4 eras with the first era as a before blood conservation baseline using traditional blood management.

Best holdout assessment is sufficient for cancer transcriptomic model selection.

Guidelines in statistical modeling for genomics hold that simpler models have advantages over more complex ones. Potential advantages include cost, interpretability, and improved generalization across datasets or biological contexts. We directly tested the assumption that small gene signatures generalize better by examining the generalization of mutation status prediction models across datasets (from cell lines to human tumors and vice versa) and biological contexts (holding out entire cancer types from pan-cancer data).

Clinical and biochemical footprints of inherited metabolic diseases: XVII. Dysmorphisms.

Dysmorphisms, or physical abnormalities in appearance, can vary in frequency and severity among individuals with inherited metabolic disorders (IMD). The prevalence of dysmorphisms in these disorders can range from rare occurrences to more common features, depending on the specific disorder and its genetic characteristics. It is important to note that not all individuals with IMDs will exhibit dysmorphic features, and the presence of such features may vary widely among different types of metabolic disorders.

A Pathway-Level Information ExtractoR (PLIER) framework to gain mechanistic insights into obesity in Down syndrome.

Down syndrome (DS), caused by the triplication of chromosome 21 (T21), is a prevalent genetic disorder with a higher incidence of obesity. Traditional approaches have struggled to differentiate T21-specific molecular dysregulation from general obesity-related processes. This study introduces the omni-PLIER framework, combining the Pathway-Level Information ExtractoR (PLIER) with the omnigenic model, to uncover molecular mechanisms underlying obesity in DS.

Genomic insights into gestational weight gain uncover tissue-specific mechanisms and pathways.

Gestational weight gain (GWG) is linked to adverse outcomes in pregnant persons and offspring. The Early Growth Genetics Consortium previously identified genetic variants contributing to GWG from fetal and maternal genomes. However, their biologic mechanisms and tissue-specificity are unknown.

Imaging blood-brain barrier dysfunction in drug-resistant epilepsy: A multi-center feasibility study.

Objective: Blood-brain barrier dysfunction (BBBD) has been linked to various neurological disorders, including epilepsy. This study aims to utilize dynamic contrast-enhanced magnetic resonance imaging (DCE-MRI) to identify and compare brain regions with BBBD in patients with epilepsy (PWE) and healthy individuals.

Methods: We scanned 50 drug-resistant epilepsy (DRE) patients and 58 control participants from four global specialized epilepsy centers using DCE-MRI.

Trends in Medical Encounters Involving Cannabis-Related Disorders Among US Medicare Beneficiaries, 2017-2022.

To characterize cannabis-related disorder medical encounter trends in the US Medicare population during 2017 to 2022. We conducted a descriptive study, which included 56 624 432 beneficiaries aged 65 years or older and 10 247 953 aged 18 to 64 years with disability. All were continuously enrolled in Medicare (Fee-for-Service or Advantage) for 183 or more days before the first day of the calendar year.

Temporomandibular disorders: INfORM/IADR key points for good clinical practice based on standard of care.

Objective: To present a list of key points for good Temporomandibular Disorders (TMDs) clinical practice on behalf of the International Network for Orofacial Pain and Related Disorders Methodology (INfORM) group of the International Association for Dental, Oral and Craniofacial Research (IADR).

Methods: An open working group discussion was held at the IADR General Session in New Orleans (March 2024), where members of the INfORM group finalized the proposal of a list of 10 key points.

Results: The key points covered knowledge on the etiology, diagnosis, and treatment.

NX210c drug candidate peptide strengthens mouse and human blood-brain barriers.

Background: Alterations of blood-brain barrier (BBB) and blood-spinal cord barrier have been documented in various animal models of neurodegenerative diseases and in patients. Correlations of these alterations with functional deficits suggest that repairing barriers integrity may represent a disease-modifying approach to prevent neuroinflammation and neurodegeneration induced by the extravasation of blood components into the parenchyma. Here, we screened the effect of a subcommissural organ-spondin-derived peptide (NX210c), known to promote functional recovery in several models of neurological disorders, on BBB integrity in vitro and in vivo.

Equity in Digital Mental Health Interventions in the United States: Where to Next?

Health care technologies have the ability to bridge or hinder equitable care. Advocates of digital mental health interventions (DMHIs) report that such technologies are poised to reduce the documented gross health care inequities that have plagued generations of people seeking care in the United States. This is due to a multitude of factors such as their potential to revolutionize access; mitigate logistical barriers to in-person mental health care; and leverage patient inputs to formulate tailored, responsive, and personalized experiences.

Operative and nonoperative outcomes in patients with trisomy 13 and 18 with congenital heart disease.

Objective: To evaluate the short- and long-term outcomes of cardiac repair versus nonoperative management in patients with trisomy 13 and trisomy 18 with congenital heart disease.

Methods: An institutional review board-approved, retrospective review was undertaken to identify all patients admitted with trisomy 13/18 and congenital heart disease. Patients were divided into 2 cohorts (operated vs nonoperated) and compared.

An efficient, not-only-linear correlation coefficient based on clustering.

Identifying meaningful patterns in data is crucial for understanding complex biological processes, particularly in transcriptomics, where genes with correlated expression often share functions or contribute to disease mechanisms. Traditional correlation coefficients, which primarily capture linear relationships, may overlook important nonlinear patterns. We introduce the clustermatch correlation coefficient (CCC), a not-only-linear coefficient that utilizes clustering to efficiently detect both linear and nonlinear associations.

A Bi-Institutional Study of Gastrointestinal and Hepatic Manifestations in Children With Hamartoma Tumor Syndrome.

Background And Aims: hamartoma tumor syndrome (PHTS) confers a high risk of specific cancers and is the most common genetic cause of autism spectrum disorder (ASD). Gastrointestinal (GI) phenotypes in PHTS are poorly characterized in children. Thus, we aimed to characterize the GI and hepatic manifestations in children with PHTS and to investigate genotype-phenotype associations.

Simplifying venous outflow: Prolonged venous transit as a novel qualitative marker correlating with acute stroke outcomes.

Background: Prolonged venous transit (PVT), defined as presence of time-to-maximum 10 s within the superior sagittal sinus (SSS) and/or torcula, is a novel, qualitatively assessed computed tomography perfusion surrogate parameter of venous outflow with potential utility in pretreatment acute ischemic stroke imaging for neuroprognostication. We aim to characterize the correlation between PVT and neurological functional outcomes in thrombectomy-treated patients.

Methods: A prospectively-collected database of large vessel occlusion acute ischemic stroke patients treated with thrombectomy was retrospectively analyzed.

CDC's Laboratory Activities to Support Newborn Screening for Spinal Muscular Atrophy.

Spinal muscular atrophy (SMA) was added to the HHS Secretary's Recommended Uniform Screening Panel for newborn screening (NBS) in 2018, enabling early diagnosis and treatment of impacted infants to prevent irreversible motor neuron damage. In anticipation of supporting SMA newborn screening, scientists at the U.S.