Against the Phrase "Aggressive Care".

Language is the primary technology clinical ethicists use as they offer guidance about norms. Like any other piece of technology, to use the technology well requires attention, intention, skill, and knowledge. Word choice becomes a matter of professional practice.

Mate-Pair Sequencing Enables Identification and Delineation of Balanced and Unbalanced Structural Variants in Prenatal Cytogenomic Diagnostics.

Background: Mate-pair sequencing detects both balanced and unbalanced structural variants (SVs) and simultaneously informs in relation to both genomic location and orientation of SVs for enhanced variant classification and clinical interpretation, while chromosomal microarray analysis (CMA) only reports deletion/duplication. Herein, we evaluated its diagnostic utility in a prospective back-to-back prenatal comparative study with CMA.

Methods: From October 2021 to September 2023, 426 fetuses with ultrasound anomalies were prospectively recruited for mate-pair sequencing and CMA in parallel for prenatal genetic diagnosis.

Detection of Clinically Relevant Monogenic Copy-Number Variants by a Comprehensive Genome-Wide Microarray with Exonic Coverage.

Background: Disease-causing copy-number variants (CNVs) often encompass contiguous genes and can be detected using chromosomal microarray analysis (CMA). Conversely, CNVs affecting single disease-causing genes have historically been challenging to detect due to their small sizes.

Methods: A custom comprehensive CMA (Baylor College of Medicine - BCM v11.

Racial Disparities in Minimally Invasive Benign Hysterectomy.

Background And Objectives: Racial and ethnic disparities in access to minimally invasive surgery (MIS) and the rate of surgical complications in minority groups remain profoundly underinvestigated. This meta-analysis aims to compare the rate of MIS utilization for benign hysterectomy as well as the surgical morbidity among racial and ethnic minority patients in the United States.

Methods: Studies comparing utilization rate of MIS for benign hysterectomy among non-Hispanic white, Black, and Hispanic populations were considered eligible.

The African Initiative for Bioinformatics Online Training in Neurodegenerative Diseases (AI-BOND): Investing in the next generation of African neuroscientists.

Unlabelled: Neurodegenerative disorders, including Alzheimer's disease and AD-related dementias (AD/ADRD), pose significant challenges to health care systems globally, particularly in Africa. With the advances in medical technology and research capabilities, especially in next-generation sequencing and imaging, vast amounts of data have been generated from AD/ADRD research. Given that the greatest increase in AD/ADRD prevalence is expected to occur in Africa, it is critical to establish comprehensive bioinformatics training programs to help African scientists leverage existing data and collect additional information to untangle AD/ADRD heterogeneity in African populations.

Understanding the experience of Latinas in medical education: A qualitative study.

Background: Despite increased recruitment of Latina medical students, the percentage of Latina physicians has remained stagnant, suggesting unique retentive barriers affecting this population. Discriminatory experiences involving bias may contribute to difficulties in the retention and advancement of Latinas in medicine. This qualitative analysis aimed to explore thematic barriers prevalent among Latinas throughout their medical training in the United States.

Unraveling the causal impact of smoking and its DNA methylation signatures on cardiovascular disease: Mendelian randomization and colocalization analysis.

Background: To explore the mechanisms linking smoking to cardiovascular diseases (CVDs) from an epigenetic perspective.

Methods: Mendelian Randomization (MR) analysis was performed to assess the causal effects of smoking behavior and DNA methylation levels at smoking-related CpG sites on nine CVDs, including aortic aneurysm, atrial fibrillation, coronary atherosclerosis, coronary heart disease, heart failure, intracerebral hemorrhage, ischemic stroke, myocardial infarction, subarachnoid hemorrhage. Colocalization analysis was used to further identify key smoking-related CpG sites from the MR causal estimates.

Evaluation of long-acting cabotegravir safety and pharmacokinetics in pregnant women in eastern and southern Africa: a secondary analysis of HPTN 084.

Introduction: Long-acting injectable cabotegravir (CAB-LA) for pre-exposure prophylaxis significantly reduced HIV acquisition in HPTN 084. We report on the safety and CAB-LA pharmacokinetics in pregnant women during the blinded period of HPTN 084.

Methods: Participants were randomized 1:1 to either active cabotegravir (CAB) plus tenofovir disoproxil fumarate/emtricitabine (TDF/FTC) placebo or active TDF/FTC plus CAB placebo.

Clerkship Students' Use of Clinical Reasoning Concepts After a Pre-clinical Reasoning Course.

Background: Many medical schools have incorporated clinical reasoning (CR) courses into their pre-clinical curricula to address the quality and safety issue of diagnostic error. It is unknown how students use concepts and practices from pre-clinical CR courses once in clerkships.

Objective: We sought to understand how students utilize CR concepts from a pre-clinical course during clerkships and to identify facilitators and barriers to the use of reasoning concepts.

Abdominoplasty Under Total Intravenous Anesthesia Significantly Decreases Deep Venous Thrombosis and Pulmonary Embolism Risk.

Background: Venous thromboembolism (VTE) is the most feared complications of abdominoplasty, and multiple studies in the plastic surgery literature have sought to prevent these complications. General inhalational anesthesia can increase the risk of VTE via a variety of mechanisms. This study evaluates whether performing abdominoplasties under total intravenous anesthesia (TIVA) instead of general inhalational anesthesia can reduce the risk of VTE.

Meta-EA: a gene-specific combination of available computational tools for predicting missense variant effects.

Computational methods for estimating missense variant impact suffer from inconsistent performance across genes, which poses a major challenge for their reliable use in clinical practice. While ensemble scores leverage multiple prediction methods to enhance consistency, the overrepresentation of certain genes in the training data can bias their outcomes. To address this critical limitation, we propose a gene-specific ensemble framework trained on reference computational annotations rather than on clinical or experimental data.

Modified Approach to Segmental Maxillary Surgery: Midline Osteotomy and Parasagittal Soft Tissue Incisions.

Traditional surgical techniques for segmental maxillary surgery include a combination of interdental osteotomies with paramidline bony cuts while keeping the palatal soft tissue intact. Besides surgical complexity, segmental maxillary procedures have been associated with higher incidence of relapse and complications. We present our experience with specific hard- and soft-tissue modifications (midline bony osteotomy and reflection of palatal soft tissue with carefully designed incisions) which will allow surgeons to perform larger expansions with a low incidence of complications and decreased relapse.

The Association between All-cause Mortality and Obstructive Sleep Apnea in Adults: A U-Shaped Curve.

Rationale And Objectives: The relationship between Sleep Apnea (SA) and mortality remains a topic of debate. We explored the relationship between the severity of SA and mortality and the effect of age on this association.

Methods: Using a Veterans' database, we extracted the apnea-hypopnea index (AHI) from physician interpretation of sleep studies, by developing a Natural Language Processing (NLP) pipeline (with 944 manually annotated notes) which achieved more than 85% accuracy.

Cardiovascular Disease and Breast Cancer Stage at Diagnosis.

Importance: Cardiovascular disease (CVD) and cancer are the leading causes of mortality in the US. Large-scale population-based and mechanistic studies support a direct effect of CVD on accelerated tumor growth and spread, specifically in breast cancer.

Objective: To assess whether individuals presenting with advanced breast cancers are more likely to have prevalent CVD compared with those with early-stage breast cancers at the time of diagnosis.

Psychometric evaluation of the Yale-Brown Obsessive-Compulsive Scale in pregnant women.

Purpose: Although many women experience obsessive-compulsive symptoms during the perinatal period, the Yale-Brown Obsessive Compulsive Scale (YBOCS) has not yet been psychometrically evaluated in this population. This study examined the internal consistency, convergent and divergent validity, and factor structure of the YBOCS among pregnant women.

Methods: 256 Women who were 20 to 24 weeks pregnant completed the clinician-administered YBOCS and Mini International Neuropsychiatric Interview (MINI) along with a series of self-report questionnaires including the Edinburgh Postnatal Depression Scale (EPDS), Perinatal Anxiety Screening Scale (PASS) and Obsessive-Compulsive Inventory-Revised (OCI-R).

Rise in Minimally Invasive Surgery for Colorectal Cancer Is Associated With Adoption of Robotic Surgery.

Background: Minimally invasive surgery is associated with improved short-term outcomes and similar long-term oncologic outcomes for colorectal cancer patients compared with open surgery. Although the robotic approach has ergonomic and technical benefits, how it has impacted utilization of traditional laparoscopic surgery and minimally invasive surgery overall is unclear.

Objective: Describe trends in open, robotic, and laparoscopic approaches for colorectal cancer resections and examine factors associated with minimally invasive surgery.

ATRX silences Cartpt expression in osteoblastic cells during skeletal development.

ATP-dependent chromatin remodeling protein ATRX is an essential regulator involved in maintenance of DNA structure and chromatin state and regulation of gene expression during development. ATRX was originally identified as the monogenic cause of X-linked α-thalassemia mental retardation (ATR-X) syndrome. Affected individuals display a variety of developmental abnormalities and skeletal deformities.

The effect of a provisional diagnosis on intern diagnostic reasoning: a mixed methods study.

Objectives: Competency in diagnostic reasoning is integral to medical training and patient safety. Situativity theory highlights the importance of contextual factors on learning and performance, such as being informed of a provisional diagnosis prior to a patient encounter. This study aims to determine how being informed of a provisional diagnosis affects an intern's approach to diagnostic reasoning.