Investigative genetic genealogy practices warranting policy attention: Results of a modified policy Delphi.

A technique known as investigative genetic genealogy (IGG) was first introduced to criminal investigations in 2018, and it has since been used by U.S. law enforcement to help identify hundreds of criminal perpetrators and unidentified human remains.

Utilization of Telemedicine for Patients Receiving In-center Hemodialysis in the United States.

Background: In March 2020, responding to the COVID-19 pandemic, federal emergency waivers in the United States enabled kidney care providers (nephrologists and advanced practice providers) to substitute face-to-face in-center hemodialysis visits with telemedicine encounters. We examined whether the frequency of kidney care provider visits and hospitalizations were associated with telemedicine use in hemodialysis care.

Methods: We used Medicare claims to identify US patients receiving in-center hemodialysis during the first 16 months of the COVID-19 pandemic.

Phase I trial comparing bile acid and short-chain fatty acid alterations in stool collected from human subjects treated with omadacycline or vancomycin.

Unlabelled: Omadacycline, an aminomethylcycline tetracycline, has a low propensity to cause infection (CDI) in clinical trials. Omadacycline exhibited a reduced bactericidal effect compared with vancomycin on key microorganisms implicated in bile acid homeostasis and short-chain fatty acids (SCFAs), key components of CDI pathogenesis. The purpose of this study was to assess bile acid and SCFA changes in stool samples from healthy volunteers given omadacycline or vancomycin.

colonization is not mediated by bile salts and utilizes Stickland fermentation of proline in an model.

Treatment with antibiotics is a major risk factor for infection, likely due to depletion of the gastrointestinal microbiota. Two microbiota-mediated mechanisms thought to limit colonization include the conversion of conjugated primary bile salts into secondary bile salts toxic to growth and competition between the microbiota and for limiting nutrients. Using a continuous flow model that simulates the nutrient conditions of the distal colon, we investigated how treatment with 6 clinically used antibiotics influenced susceptibility to infection in 12 different microbial communities cultivated from healthy individuals.

Dual test gas pulmonary diffusing capacity in patients with idiopathic scoliosis 40 years after diagnosis.

There is limited knowledge on diffusing capacity in scoliosis patients. It remains to be determined if impaired pulmonary diffusing capacity is mostly influenced by reduced alveolar-capillary membrane diffusing capacity (D), reduced pulmonary capillary blood volume (V) or both. This study aims to report findings from dual test gas pulmonary diffusing capacity for carbon monoxide and nitric oxide (D) with quantification of pulmonary diffusing capacity for carbon monoxide corrected for haemoglobin with a five s breath-hold (D) and nitric oxide with a five s breath-hold (D), D and V.

Reevaluating Anti-Inflammatory Therapy: Targeting Senescence to Balance Anti-Cancer Efficacy and Vascular Disease.

Modulating immune function is a critical strategy in cancer and atherosclerosis treatments. For cancer, boosting or maintaining the immune system is crucial to prevent tumor growth. However, in vascular disease, mitigating immune responses can decrease inflammation and slow atherosclerosis progression.

Lessons Learned From the Liver About the Undergraduate to Graduate Medical Education Transition.

The burden of cirrhosis and chronic liver disease is growing, yet there is a projected worsening deficit in hepatology providers. As such, cirrhosis and liver disease have been important inclusions within the core curricula of Internal Medicine. Formal assessments of provider preparedness resulting from the curriculum are lacking though.

Cardiovascular Disease Risk in South Asians in the Baylor Scott and White Health DILWALE Registry.

Background: Despite implementation of preventive interventions targeting cardiovascular disease (CVD), atherosclerotic CVD (ASCVD) remains a major public health concern in the South Asian (SA) population.

Objectives: The purpose of this study was to assess the risk factor prevalence and ASCVD outcomes in SA population in the United States.

Methods: The DIL Wellness and Arterial health Longitudinal Evaluation registry collected data retrospectively on SA adult patients receiving care in the Baylor Scott & White Healthcare system.

Hemophagocytic Lymphohistiocytosis (HLH) Following Immune Checkpoint Therapy (ICT).

In the past decade, the use of immune checkpoint therapy (ICT) has increased across many malignancies, including metastatic renal cell carcinoma as an option for frontline and subsequent lines of therapy. Despite the many therapeutic benefits of ICT, its use is complicated by the potential risk of immune-related adverse events (irAEs). One rare but potentially life-threatening irAE is hemophagocytic lymphohistiocytosis (HLH).

Epidemiology of diagnostic errors in pediatric emergency departments using electronic triggers.

Objectives: We applied three electronic triggers to study frequency and contributory factors of missed opportunities for improving diagnosis (MOIDs) in pediatric emergency departments (EDs): return visits within 10 days resulting in admission (Trigger 1), care escalation within 24 h of ED presentation (Trigger 2), and death within 24 h of ED visit (Trigger 3).

Methods: We created an electronic query and reporting template for the triggers and applied them to electronic health record systems of five pediatric EDs for visits from 2019. Clinician reviewers manually screened identified charts and initially categorized them as "unlikely for MOIDs" or "unable to rule out MOIDs" without a detailed chart review.

Discontiguous recurrences of IDH-wildtype glioblastoma share a common origin with the initial tumor and are frequently hypermutated.

Glioblastoma is the deadliest primary brain tumor, largely due to inevitable recurrence of the disease after treatment. While most recurrences are local, patients rarely present with a new discontiguous focus of glioblastoma. Little is currently known about the genetic profile of discontiguous recurrences.

Initiation and sequencing of guideline-directed medical therapy for heart failure across the ejection fraction spectrum.

Strong evidence supports the importance of rapid sequence or simultaneous initiation of quadruple guideline-directed medical therapy (GDMT) for heart failure with reduced ejection fraction (HFrEF) for substantially reducing risk of mortality and hospitalization. Barring absolute contraindications for each individual medication, employing the strategy of rapid sequence, simultaneous, and/or in-hospital initiation at the time of HF diagnosis best ensures patients with HFrEF have the opportunity to benefit from proven medications and achieve large absolute risk reductions for adverse clinical outcomes. However, despite guideline recommendations supporting this approach, implementation in clinical practice remains persistently low, with less than one-fifth of eligible patients being prescribed the quadruple GDMT regimen.

Physical activity and quality of life among breast cancer survivors: Pink SWAN.

Purpose: To describe physical activity (PA) trajectories across 10 years post-breast cancer diagnosis and examine their association with quality of life (QoL).

Methods: Participants from the longitudinal Study of Women's Health Across the Nation who developed incident breast cancer completed the Quality of Life in Adult Cancer Survivors scale (QLACS) which has 12 domains. Breast cancer survivors (BCS) with at least one post-diagnosis measure of the Kaiser Physical Activity Survey (PA) were included (n = 96).

Loss of correlated proteasomal subunit expression selectively promotes the 20S state which underlies luminal breast tumorigenicity.

Why cancer cells disproportionately accumulate polyubiquitinated proteotoxic proteins despite high proteasomal activity is an outstanding question. While mis-regulated ubiquitination is a contributing factor, here we show that a structurally-perturbed and sub-optimally functioning proteasome is at the core of altered proteostasis in tumors. By integrating the gene coexpression signatures of proteasomal subunits in breast cancer (BrCa) patient tissues with the atomistic details of 26S holocomplex, we find that the transcriptional deregulation induced-stoichiometric imbalances perpetuate with disease severity.

Precision fetal cardiology detects cyanotic congenital heart disease using maternal saliva metabolome and artificial intelligence.

Prenatal sonographic diagnosis of congenital heart disease (CHD) can lead to improved morbidity and mortality. However, the diagnostic accuracy of ultrasound, the sole prenatal screening tool, remains limited. Failed prenatal or early newborn detection of cyanotic CHD (CCHD) can have disastrous consequences.

Symptom Profiles and Intensive Treatment Outcomes in Sexual Minority and Heterosexual Patients With OCD.

Sexual minority (SM) individuals appear to be at greater risk for obsessive-compulsive disorder (OCD). Despite this, little is known about OCD presentation and treatment outcomes among SM individuals. Although some research has suggested that SM individuals may be more likely to endorse intrusive thoughts related to violence/sex/religion compared to heterosexual individuals, extant literature has neglected to examine potential differences across different SM groups, a notable limitation given the apparent differences in the types of minority stress that each group experiences and the unique health disparities affecting each group.

Did Finerenone Improve Health Status in the FINEARTS Trial?: A Critical Reevaluation of the Analysis of Patient-Reported Outcomes in Heart Failure.

Patient-reported health status is an important assessment of patients with heart failure, but current approaches have substantial methodological and analytical limitations. Changes in the Kansas City Cardiomyopathy Questionnaire (KCCQ) are commonly presented as a measure of the effect of drugs and devices, most often as the between-group difference in population means or as the odds of showing threshold changes of 5, 10, 15, and 20 points. However, the presentation of mean differences is based on statistical assumptions that are routinely violated in most trials.

Fitness for Purpose of Text-to-Image Generative Artificial Intelligence Image Creation in Medical Imaging.

The recent emergence of text-to-image generative artificial intelligence (AI) diffusion models such as DALL-E, Firefly, Stable Diffusion, and Midjourney has been touted with popular hype about the transformative potential in health care. This hype-driven, rapid assimilation comes with few professional guidelines and without regulatory oversight. Despite documented limitations, text-to-image generative AI creations have permeated nuclear medicine and medical imaging.

The Golgi complex governs natural killer cell lytic granule positioning to promote directionality in cytotoxicity.

Cytotoxic immune cells mediate precise attacks against diseased cells to maintain organismal health. Their operational unit of killing and host defense is lytic granules (LGs), which are specialized lysosomal-related organelles. Precision in cytotoxicity is achieved by converging the many LGs to the microtubule-organizing center (MTOC) and polarizing these to the diseased cell for secretion.

Technical considerations of cardiac computed tomography in children.

Cardiac computed tomography angiography (CTA) is a valuable tool in the assessment of congenital and acquired cardiac disease in children. The goal of cardiac CTA is to produce images that are free of motion and provide sufficient characterization of the anatomy in question. Given the complexity of pediatric patient characteristics, including patient size, heart rate, breath-holding capability, and variant anatomy, cardiac CTA technique must be individualized to the patient as well as the indication to answer the clinical question while also minimizing radiation exposure.

TBC1D15 Inhibits Autophagy of Microglia through Maintaining the Damaged Swelling Lysosome in Alzheimer's Disease.

Autophagy in microglia is essential for the clearance of amyloid-beta (Aβ) and amyloid plaques in Alzheimer's disease. However, reports regarding the levels of autophagy in microglia have been inconsistent; some studies indicate an early enhancement followed by a subsequent reduction, while others describe a persistently weakened state. Notably, there is a lack of systematic studies documenting the temporal changes in microglial autophagy.

General Kernel Machine Methods for Multi-Omics Integration and Genome-Wide Association Testing With Related Individuals.

Integrating multi-omics data may help researchers understand the genetic underpinnings of complex traits and diseases. However, the best ways to integrate multi-omics data and use them to address pressing scientific questions remain a challenge. One important and topical problem is how to assess the aggregate effect of multiple genomic data types (e.