Surgical management of achalasia.

Achalasia is a chronic esophageal motility disorder comprised of ineffective esophageal peristalsis and incomplete relaxation of the lower esophageal sphincter. This disease had historically been managed through medical means as well as endoscopic dilations. However, surgical interventions are now considered standard of care, including minimally invasive Heller myotomy, which was popularized in 1990s, followed by per oral endoscopic myotomy in the 2010s.

Representation of online LGBTQ+ support in general surgery residency programs.

Background: Lesbian, Gay, Bisexual, Transgender, Queer, and more(LGBTQ+) trainees are underrepresented in medicine, and their experiences in surgery have not been well studied. We sought to examine the practices of general surgery residency programs by region regarding representation of LGBTQ+ ​support online.

Methods: Retrospective, two-person review of 100 general surgery residency programs stratified by Electronic Residency Application Service(ERAS) region comparing data on Diversity, Equity, and Inclusion(DEI) and LGBTQ+ ​-specific webpages.

Early postoperative outcomes following bariatric surgery in the United States: Are racial disparities improving?

Background: Bariatric surgery offers effective treatment for morbid obesity and associated medical comorbidities, with excellent short- and long-term outcomes. Although it has been well documented that racial minority bariatric patients have worse outcomes than White patients, it remains unclear whether this recognition has led to improvement. Herein, we assess recent trends in bariatric surgery among Black and White patients and compare early postoperative outcomes by race.

A Five-Year Review of Newborn Screening for Spinal Muscular Atrophy in the State of Utah: Lessons Learned.

Spinal muscular atrophy (SMA) is an autosomal recessive condition characterized by alpha motor neuron degeneration in the spinal cord anterior horn. Clinical symptoms manifest in the first weeks to months of life in the most severe cases, resulting in progressive symmetrical weakness and atrophy of the proximal voluntary muscles. Approximately 95% of SMA patients present with homozygous deletion of the gene.

Rates of Reproductive Counseling and Contraception Use in Patients with Heart Failure at a Tertiary Care Center.

Background: Increasing numbers of women of childbearing age have cardiac disease, including heart failure (HF). In these women, pregnancy can cause significant morbidity and mortality. Contraceptive use and pregnancy counseling in women with HF is an essential part of their medical care.

Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles.

Background: We previously described the KINSSHIP syndrome, an autosomal dominant disorder associated with intellectual disability (ID), mesomelic dysplasia and horseshoe kidney,caused by variants in the degron of AFF3. Mouse knock-ins and overexpression in zebrafish provided evidence for a dominant-negative (DN) mode-of-action, wherein an increased level of AFF3 resulted in pathological effects.

Methods: Evolutionary constraints suggest that other mode-of-inheritance could be at play.

Novel Variants and Cases of Acute Reversible Leukoencephalopathy and α-Ketoglutarate Accumulation and Literature Review.

Objectives: Acute reversible leukoencephalopathy with increased urinary alpha-ketoglutarate (ARLIAK) is a recently described autosomal recessive leukoencephalopathy caused by pathogenic variants in the gene. ARLIAK is characterized by acute neurologic involvement, often precipitated by febrile illness, with largely reversible clinical symptoms and imaging findings. Three patients have been reported in the literature to date.

Preconception Counseling in a Patient With a Mechanical Aortic Valve and Recent Ischemic Stroke.

A 31-year-old woman with a mechanical aortic valve for congenital aortic stenosis presented to the cardiology clinic for preconception counseling. After experiencing an acute stroke 4 weeks prior, she was subsequently discovered to have prosthetic valve thrombosis requiring replacement of the aortic valve. We discuss her clinical course and preconception considerations.

Genetic Patterns of Selected Muscular Dystrophies in the Muscular Dystrophy Surveillance, Tracking, and Research Network.

Background And Objectives: To report the genetic etiologies of Emery-Dreifuss muscular dystrophy (EDMD), limb-girdle muscular dystrophy (LGMD), congenital muscular dystrophy (CMD), and distal muscular dystrophy (DD) in 6 geographically defined areas of the United States.

Methods: This was a cross-sectional, population-based study in which we studied the genes and variants associated with muscular dystrophy in individuals who were diagnosed with and received care for EDMD, LGMD, CMD, and DD from January 1, 2008, through December 31, 2016, in the 6 areas of the United States covered by the Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STAR). Variants of unknown significance (VUSs) from the original genetic test reports were reanalyzed for changes in interpretation.

Diagnosing X-Linked Adrenoleukodystrophy after Implementation of Newborn Screening: A Reference Laboratory Perspective.

Adrenoleukodystrophy (ALD) is caused by pathogenic variants in the gene, encoding for the adrenoleukodystrophy protein (ALDP), leading to defective peroxisomal β-oxidation of very long-chain and branched-chain fatty acids (VLCFA). ALD manifests in both sexes with a spectrum of phenotypes, but approximately 35% of affected males develop childhood cerebral adrenoleukodystrophy (CCALD), which is lethal without hematopoietic stem cell transplant performed before symptoms start. Hence, ALD was added to the Recommended Uniform Screening Panel after the successful implementation in New York State (2013-2016).

The diagnostic yield of preoperative screening for oral cancer in dogs over 15 years, part 1: locoregional screening.

Objective: Determine locoregional diagnostic yield of 4-site screening (head, neck, chest, and abdomen) to diagnose metastatic disease or clinically significant comorbid diseases in dogs with oral cancer.

Animals: 381 dogs with histologically confirmed oral tumors.

Methods: Medical records from 381 dogs with histologically confirmed oral tumors that underwent preoperative screening were retrospectively reviewed.

The diagnostic yield of preoperative screening for oral cancer in dogs over 15 years, part 2: distant screening.

Objective: Determine diagnostic yield of chest, abdomen, and 4-site screening to diagnose metastatic disease and secondary diseases of prognostic significance in dogs with oral cancer.

Sample: Medical records from 381 dogs with histologically confirmed oral tumors that underwent preoperative screening were retrospectively reviewed.

Results: Thoracic metastasis was diagnosed in 4.

A synopsis of the SAGES ADOPT course for foregut surgery and its positive impact on surgeons' confidence levels.

Background: The Acquisition of Data for Outcomes and Procedure Transfer (ADOPT) program was established by SAGES to develop and expand individual surgeon's comfort with specific, complex operations using hands-on teaching and longitudinal mentoring. The 2022-2023 Foregut (Dominating the Hiatus) section of the course focused on hiatal hernia dissection and gastric fundoplication techniques. Our aim was to describe the experience of surgeons who participated in the course.

Stepwise Multimodality Imaging Assists in Atrial Myxoma Diagnosis and Management.

The case of a 67-year-old man who presented for elective gastroenterology procedures and was in atrial fibrillation is discussed. Transthoracic echocardiography revealed a large atrial mass. Preoperative coronary angiography revealed a heavily vascularized mass.

Simulation-Based Education in US Undergraduate Medical Education: A Descriptive Study.

Purpose: Simulation-based education (SBE) provides experiential learning, improvement in quality of care, and reduction in errors. In 2011, the Association of American Medical Colleges described adoption of SBE in 68.0% of medical schools and 25.

Structural characterization of dicyanopyridine containing DNMT1-selective, non-nucleoside inhibitors.

DNMT1 maintains the parental DNA methylation pattern on newly replicated hemimethylated DNA. The failure of this maintenance process causes aberrant DNA methylation that affects transcription and contributes to the development and progression of cancers such as acute myeloid leukemia. Here, we structurally characterized a set of newly discovered DNMT1-selective, reversible, non-nucleoside inhibitors that bear a core 3,5-dicyanopyridine moiety, as exemplified by GSK3735967, to better understand their mechanism of inhibition.

Discovery of a first-in-class reversible DNMT1-selective inhibitor with improved tolerability and efficacy in acute myeloid leukemia.

DNA methylation, a key epigenetic driver of transcriptional silencing, is universally dysregulated in cancer. Reversal of DNA methylation by hypomethylating agents, such as the cytidine analogs decitabine or azacytidine, has demonstrated clinical benefit in hematologic malignancies. These nucleoside analogs are incorporated into replicating DNA where they inhibit DNA cytosine methyltransferases DNMT1, DNMT3A and DNMT3B through irreversible covalent interactions.

Perceptions of Canadian radiation oncologists, radiation physicists, radiation therapists and radiation trainees about the impact of artificial intelligence in radiation oncology - national survey.

Background: Artificial Intelligence (AI) is making a continuous progression into the field of Radiation Oncology in Canada and globally. While this field continues to evolve, there is no clear understanding about how radiation oncologists, radiation therapists, medical physicists and radiation trainees perceive AI and its' impact on radiation oncology as a discipline. The purpose of this study was to investigate the perception of these four Canadian professional groups about AI.

Transversus abdominis plane block with liposomal bupivacaine and its effect on opiate use after weight loss surgery: a randomized controlled trial.

Background: Liposomal bupivacaine (LB), as an extended-release local anesthetic, may provide lasting pain control and therefore decrease the need for narcotics in the immediate postoperative period.

Objectives: The aim of this study was to evaluate whether transversus abdominis plane (TAP) block with LB decreased the use of postoperative narcotics compared with regular bupivacaine (RB) and no TAP block in patients undergoing weight loss procedures.

Setting: A large, metropolitan, university-affiliated, tertiary hospital.

Discovery of Isoxazole Amides as Potent and Selective SMYD3 Inhibitors.

We report herein the discovery of isoxazole amides as potent and selective SET and MYND Domain-Containing Protein 3 (SMYD3) inhibitors. Elucidation of the structure-activity relationship of the high-throughput screening (HTS) lead compound provided potent and selective SMYD3 inhibitors. The SAR optimization, cocrystal structures of small molecules with SMYD3, and mode of inhibition (MOI) characterization of compounds are described.