Aberrant acetylation caused by a CDYL splicing mutation contributes to thin mid-piece related asthenoteratozoospermia and male infertility.

Objectives: Acetylated tubulin is a hallmark of flagellar stability in spermatozoa, and studies have demonstrated the ability of CDYL to function as a tubulin acetyltransferase in spermatozoa. Of note, germline conditional knockout of Cdyl can lead to asthenoteratozoospermia and infertility in male mice. However, the role of CDYL gene in human fertility remains uncharacterized.

Predictors of willingness to participate in COVID-19 clinical trials among Black and Latino adults.

Introduction: Black and Latino individuals are underrepresented in COVID-19 treatment and vaccine clinical trials, calling for an examination of factors that may predict willingness to participate in trials.

Methods: We administered the Common Survey 2.0 developed by the Community Engagement Alliance (CEAL) Against COVID-19 Disparities to 600 Black and Latino adults in Baltimore City, Prince George's County, Maryland, Montgomery County, Maryland, and Washington, DC, between October and December 2021.

Pan-TRK positive uterine sarcoma in immunohistochemistry without neurotrophic tyrosine receptor kinase gene fusions: A case report.

Background: The classification of uterine sarcomas is based on distinctive morphological and immunophenotypic characteristics, increasingly supported by molecular genetic diagnostics. Data on neurotrophic tyrosine receptor kinase () gene fusion-positive uterine sarcoma, potentially aggressive and morphologically similar to fibrosarcoma, are limited due to its recent recognition. Pan-TRK immunohistochemistry (IHC) analysis serves as an effective screening tool with high sensitivity and specificity for -fusion malignancies.

Efficacy of transversus abdominis plane block in postoperative pain management of laparoscopic totally extraperitoneal inguinal hernia repair: a propensity score-matched analysis.

Purpose: Transversus abdominis plane (TAP) block is a promising technique for postoperative pain control. In this study, we aimed to evaluate the efficacy of the TAP block in managing postoperative pain after laparoscopic totally extraperitoneal (TEP) inguinal hernia repair.

Methods: In this retrospective study, medical records of patients who had received ultrasonography-guided TAP blocks after surgery from January 2019 to August 2023 were reviewed and compared with those of patients who had not received.

Bifurcating Method for Subcutaneous Indwelling of Nonabsorbable Threads.

Subcutaneous indwelling of nonabsorbable threads for tissue fixation and tension reduction is often used in plastic surgery and is applied in breast reduction surgery, umbilicoplasty, and in frontalis muscle lifting for congenital ptosis. However, in a few cases, exposure of the indwelling thread necessitates its removal. Exposure of the indwelling threads mostly occurs due to exposure of the knots.

Clinical and genetic characteristics of patients with Alagille syndrome in China: identification of six novel and mutations.

Background: Alagille syndrome (ALGS) is a rare disease. The variable clinical manifestations make the diagnosis of ALGS difficult. This study aimed to provide a basis for the early diagnosis of ALGS patients whose clinical identification is difficult and to enrich the spectrum of genetic variants implicated in Chinese children with ALGS.

Causal association between pregnancy disorders and neonatal jaundice: a two-sample Mendelian randomization study.

Background: Some studies have suggested that complications during pregnancy, such as preeclampsia, leiomyoma during pregnancy, oxytocin induction, and mode of delivery, may be risk factors for neonatal jaundice. Herein, we applied Mendelian randomization (MR) analysis to investigate a causal association between pregnancy disorders and neonatal jaundice.

Methods: Data related to neonatal jaundice and pregnancy disorders (including pre-eclampsia or eclampsia, gestational diabetes, and gestational edema) were sourced from the FinnGen Consortium and Integrated Epidemiology Unit (IEU) databases.

Pain management after pediatric minimally invasive repair of pectus excavatum: a narrative review.

Background And Objective: Pectus excavatum is a common congenital chest wall abnormality characterized by a concave appearance of the chest, and minimally invasive repair of pectus excavatum (MIRPE) is the surgical treatment of choice. A rapidly growing field of research is pain management in children undergoing MIRPE, with many shifts in practice occurring over the last decade. The primary objectives of this narrative review are to describe current methods of perioperative pain management and the development of enhanced recovery after surgery (ERAS) to improve the experience of patients undergoing MIRPE.

Glycoprotein 350-targeted chimeric antigen receptor T-cell therapy for nonneoplastic chronic active Epstein-Barr virus infection: a case report.

Background: Chronic active Epstein-Barr virus (CAEBV) infection is a rare disease in which the Epstein-Barr virus (EBV) persists and replicates, causing chronic symptoms and fatal complications. The treatment of CAEBV is still evolving. Our case report showed a new therapy for CAEBV.

Single-cell transcriptome analysis reveals cellular reprogramming and changes of immune cell subsets following tetramethylpyrazine treatment in LPS-induced acute lung injury.

Background: Acute lung injury (ALI) is a disordered pulmonary disease characterized by acute respiratory insufficiency with tachypnea, cyanosis refractory to oxygen and diffuse alveolar infiltrates. Despite increased research into ALI, current clinical treatments lack effectiveness. Tetramethylpyrazine (TMP) has shown potential in ALI treatment, and understanding its effects on the pulmonary microenvironment and its underlying mechanisms is imperative.

Usefulness and safety of remimazolam in upper gastrointestinal endoscopy: A comparative study between elderly and non-elderly patients.

Objectives: In gastroenterology, sedation demand is increasing, although elderly patients are more prone to experiencing adverse events. Remimazolam, a novel ultra-short-acting benzodiazepine, may reduce recovery time after endoscopic procedures.

Methods: This study was a secondary analysis of the investigator-initiated trial, which investigated the efficacy and safety of remimazolam in gastrointestinal endoscopy (REM-IICT JP01).

Advances of signal transducer and activator of transcription 3 inhibitors in acute myeloid leukemia (Review).

Signal transducer and activator of transcription 3 (STAT3), a crucial transcription factor, exerts a notable influence by hyperactivating or acquiring functional mutations in the occurrence and progression of cancers. Hyperactive STAT3 is also implicated in a range of hematopoietic malignancies, especially acute myeloid leukemia (AML). The function of STAT3 is associated with the phosphorylated parallel dimer structure, enabling them to stimulate the transcription of specific genes.

SGLT2 Inhibitor Use in Chronic Kidney Disease: Supporting Cardiovascular, Kidney, and Metabolic Health.

Originally developed for use in type 2 diabetes mellitus (T2DM), sodium-glucose co-transporter-2 (SGLT2) inhibitors demonstrated diverse cardiovascular- and kidney-protective effects in large outcome trials. Their subsequent approval as a treatment for chronic kidney disease (CKD) marked a pivotal shift in the landscape of CKD management. Further to this, the approval of dapagliflozin and empagliflozin for use in patients with CKD with and without T2DM afforded new treatment opportunities for this population.

Pigmented Superficial Basal Cell Carcinoma of the Nipple-Areola Complex: A Case Report.

Introduction: Basal cell carcinoma (BCC) is the most common type of skin malignancy, accounting for approximately 80% of all non-melanoma skin cancers (NMSCs). Ultraviolet (UV) exposure is a significant risk factor for BCC development, which typically occurs in sun-exposed areas. BCC arising in non-sun-exposed regions, such as the nipple-areola complex (NAC), is exceedingly rare, with fewer than 100 cases reported globally.

Lessons for a learning health system: Effectively communicating to patients about research with their health information and biospecimens.

Introduction: Sharing patient health information and biospecimens can improve health outcomes and accelerate breakthroughs in medical research. But patients generally lack understanding of how their clinical data and biospecimens are used or commercialized for research. In this mixed methods project, we assessed the impact of communication materials on patient understanding, attitudes, and perceptions.

Validating a novel measure for assessing patient openness and concerns about using artificial intelligence in healthcare.

Objectives: Patient engagement is critical for the effective development and use of artificial intelligence (AI)-enabled tools in learning health systems (LHSs). We adapted a previously validated measure from pediatrics to assess adults' openness and concerns about the use of AI in their healthcare.

Study Design: Cross-sectional survey.

The power of personas: Exploring an innovative model for understanding stakeholder perspectives in an oncology learning health network.

Introduction: Learning health networks (LHNs) improve clinical outcomes by applying core tenets of continuous quality improvements (QI) to reach community-defined outcomes, data-sharing, and empowered interdisciplinary teams including patients and caregivers. LHNs provide an ideal environment for the rapid adoption of evidence-based guidelines and translation of research and best practices at scale. When an LHN is established, it is critical to understand the needs of all stakeholders.

Trends in surgical procedures for shoulder instability among patients with Ehlers-Danlos syndrome or joint hypermobility syndrome.

Background: Joint hypermobility syndrome (JHS) and Ehlers-Danlos Syndrome (EDS) are connective tissue disorders characterized by increased joint laxity, affecting musculoskeletal health and quality of life. In this study, we explored recent trends in surgical treatment of shoulder instability among patients with these disorders.

Methods: We searched the PearlDiver Mariner database, which includes deidentified US all-payer claims data from 2010 to 2020.

Prior nonarthroplasty shoulder surgery and modifiable risk factors negatively affect patient outcomes after shoulder arthroplasty.

Background: Total shoulder arthroplasty frequently is performed in patients with a history of shoulder surgery. The purpose of this study was to evaluate clinical outcomes after primary shoulder arthroplasty in patients with a history of nonarthroplasty shoulder surgery, and whether certain modifiable risk factors (MRFs) were negatively associated with final outcome measures. The secondary purpose was to determine if costs or complications were higher in patients with prior shoulder surgery.

Transcatheter Aortic Valve Replacement in Patients With Interventricular Membranous Septal Aneurysms.

Aneurysms of the interventricular membranous septum are a rare anatomical feature that can be detected incidentally on computed tomography or echocardiography. Such aneurysms can pose challenges in the treatment of patients with aortic valve stenosis. A case series of 2 patients with membranous septal aneurysms treated successfully with current-generation balloon-expandable and self-expanding transcatheter heart valves is presented here.

Advances in moyamoya disease: pathogenesis, diagnosis, and therapeutic interventions.

Moyamoya disease (MMD) is a type of cerebrovascular disease characterized by occlusion of the distal end of the internal carotid artery and the formation of collateral blood vessels. Over the past 20 years, the landscape of research on MMD has significantly transformed. In this review, we provide insights into the pathogenesis, diagnosis, and therapeutic interventions in MMD.

H3K14la drives endothelial dysfunction in sepsis-induced ARDS by promoting SLC40A1/transferrin-mediated ferroptosis.

Pulmonary endothelial cell (EC) activation is a key factor in acute respiratory distress syndrome (ARDS). In sepsis, increased glycolysis leads to lactate buildup, which induces lysine lactylation (Kla) on histones and other proteins. However, the role of protein lactylation in EC dysfunction during sepsis-induced ARDS remains unclear.

Disseminated intravascular coagulation: cause, molecular mechanism, diagnosis, and therapy.

Disseminated intravascular coagulation (DIC) is a complex and serious condition characterized by widespread activation of the coagulation cascade, resulting in both thrombosis and bleeding. This review aims to provide a comprehensive overview of DIC, emphasizing its clinical significance and the need for improved management strategies. We explore the primary causes of DIC, including sepsis, trauma, malignancies, and obstetric complications, which trigger an overactive coagulation response.