C19orf12 gene variants causing mitochondrial membrane protein-associated neurodegeneration (MPAN).

Mitochondrial membrane protein-associated neurodegeneration (MPAN) is a rare neurodegenerative disorder characterized by spastic paraplegia, parkinsonism and psychiatric and/or behavioral symptoms caused by variants in gene encoding chromosome-19 open reading frame-12 (C19orf12). We present here seven patients from six unrelated families with detailed clinical, radiological, and genetic investigations. Childhood-onset patients predominantly had a spastic ataxic phenotype with optic atrophy, while adult-onset patients were presented with cognitive, behavioral, and parkinsonian symptoms.

In-vitro and in-vivo assessment of biocompatibility and efficacy of ostrich eggshell membrane combined with platelet-rich plasma in Achilles tendon regeneration.

Tendon injuries present significant medical, social, and economic challenges globally. Despite advancements in tendon injury repair techniques, outcomes remain suboptimal due to inferior tissue quality and functionality. Tissue engineering offers a promising avenue for tendon regeneration, with biocompatible scaffolds playing a crucial role.

Association between a geriatric measure tool and adverse outcomes among older adults treated in an emergency department: a retrospective cohort study.

The COVID-19 pandemic provided an ideal scenario for studying the care of the elderly population, we implemented a tool named the Geriatric Measure (GM) tool to determine the severity and need for hospitalization. The objective of the study is to evaluate if the results of a brief Geriatric Measure tool are associated with mortality and other outcomes among older adults with COVID-19 treated in the emergency department. Retrospective observational cohort study.

Evaluation of ST-segment and T-wave changes associated with NSTE-ACS in patients with RBBB: a nested case-control study design.

Patients presenting with suspected acute coronary syndrome (ACS) in the emergency department (ED) require rapid and accurate electrocardiographic (ECG) evaluation. This study aims to assess conventional ECG markers for diagnosing non-ST-elevation ACS (NSTE-ACS) in patients with chest discomfort and right bundle branch block (RBBB). A nested case-control design was employed to compare patients with RBBB admitted to the ED for suspected cardiac ischemia, focusing on those who developed NSTE-ACS versus those who did not.

Copy Number Variation in Asthma: An Integrative Review.

Asthma is a complex disease with varied clinical manifestations resulting from the interaction between environmental and genetic factors. While chronic airway inflammation and hyperresponsiveness are central features, the etiology of asthma is multifaceted, leading to a diversity of phenotypes and endotypes. Although most research into the genetics of asthma focused on the analysis of single nucleotide polymorphisms (SNPs), studies highlight the importance of structural variations, such as copy number variations (CNVs), in the inheritance of complex characteristics, but their role has not yet been fully elucidated in asthma.

Inflammatory markers predict efficacy of immunotherapy in advanced non-small cell lung cancer: a preliminary exploratory study.

Objective: The purpose of this study is to analyze the predictive value of neutrophil to lymphocyte ratio (NLR), lymphocyte count to monocyte count ratio (LMR), platelet to lymphocyte ratio (PLR), platelet count multiplied by neutrophil count to lymphocyte count ratio (SII), red blood cell distribution width (RDW), packed cell volume (PCV), and plateletcrit (PCT) levels in advanced non-small cell lung cancer (NSCLC) patients treated with PD-1/PD-L1 inhibitors.

Materials And Methods: From March 2019 to August 2023, we screened 104 of 153 patients with stage III unresectable local advanced NSCLC and IV NSCLC who received PD-1/PD-L1 inhibitor therapy at our hospital and met the inclusion and exclusion criteria for analysis. All patients were collected for clinical information, including baseline blood indicator (NLR, PLR, LMR, SII, CRP, RDW, PCV and PCT) levels before PD-1/PD-L1 inhibitor therapy and blood indicator levels and imaging evaluation results every two cycles after PD-1/PD-L1 inhibitor therapy.

CircRNA CDR1AS promotes cardiac ischemia-reperfusion injury in mice by triggering cardiomyocyte autosis.

Myocardial ischemia/reperfusion (IR) injury is a common adverse event in the clinical treatment of myocardial ischemic disease. Autosis is a form of cell death that occurs when autophagy is excessive in cells, and it has been associated with cardiac IR damage. This study aimed to investigate the regulatory mechanism of circRNA CDR1AS on autosis in cardiomyocytes under IR.

The impact of spillover and crossover effects of job stressors on pregnancy rates in couples undergoing in vitro fertilization treatments.

Purpose: Studies have shown mixed findings regarding the impact of stress on the success of fertility treatments. To the best of our knowledge, stress in the context of the workplace has not been investigated to date in relation to the success of fertility treatments. This research investigates the impact of work-related stress and emotional exhaustion experienced by both partners on in vitro fertilization (IVF) treatment outcomes.

Immunopathogenesis and immunotherapy of diabetes-associated periodontitis.

Objectives: This paper aims to review the immunopathogenesis of Diabetes-associated periodontitis (DPD) and to propose a description of the research progress of drugs with potential clinical value from an immunotherapeutic perspective.

Materials And Methods: A comprehensive literature search was conducted in PubMed, MEDLINE, Embase, Web of Science, Scopus and the Cochrane Library. Inclusion criteria were studies on the association between diabetes and periodontitis using the Boolean operator "AND" for association between diabetes and periodontitis, with no time or language restrictions.

Medical & Socioeconomic Risk Factors Associated with Lack of Neurodevelopmental Evaluation Following Neonatal Cardiac Surgery.

Neonates with congenital heart disease (CHD) who undergo cardiopulmonary bypass (CPB) are at high-risk for unfavorable neurodevelopmental (ND) outcomes and are recommended for ND evaluation (NDE); however, poor rates have been reported. We aimed to identify risk factors associated with lack of NDE. This single-center retrospective observational study included neonates < 30 days old who underwent CPB and survived to discharge between 2012 and 2018.

A word of caution in the functional monitoring of patients after rectal cancer surgery: a multicentre observational study.

Background: Patients with rectal cancer often experience adverse effects on urinary, sexual, and digestive functions. Despite recognised impacts and available treatments, they are not fully integrated into follow-up protocols, thereby hindering appropriate interventions. The aim of the study was to discern the activities conducted in our routine clinical practice outside of clinical trials.

Genetic landscape in undiagnosed patients with syndromic hearing loss revealed by whole exome sequencing and phenotype similarity search.

There are hundreds of rare syndromic diseases involving hearing loss, many of which are not targeted for clinical genetic testing. We systematically explored the genetic causes of undiagnosed syndromic hearing loss using a combination of whole exome sequencing (WES) and a phenotype similarity search system called PubCaseFinder. Fifty-five families with syndromic hearing loss of unknown cause were analyzed using WES after prescreening of several deafness genes depending on patient clinical features.

Effects of genetic mutations on left ventricular myocardial mechanics and fibrosis patterns in hypertrophic cardiomyopathy.

Myocyte disarray and fibrosis are underlying pathologies of hypertrophic cardiomyopathy (HCM) caused by genetic mutations. However, the extent of their contributions has not been extensively evaluated. In this study, we investigated the effects of genetic mutations on myofiber function and fibrosis patterns in HCM.

Prevalence of Intestinal Parasitic Infections and Associated Factors Among Food Handlers in East Africa: A Systematic Review and Meta-analysis.

Background: Intestinal parasitic infections are a significant public health concern, especially among food handlers, who can transmit these infections to the public through food preparation and handling. This systematic review and meta-analysis aimed to determine the pooled prevalence and associated factors of intestinal parasitic infections among food handlers in the East African region.

Methods: A systematic review and meta-analysis on intestinal parasitic infections among food handlers involved a comprehensive search across various databases, including Scopus, PubMed, ScienceDirect, Google Scholar, and the institution's library registers.

Chrysoeriol: a natural RANKL inhibitor targeting osteoclastogenesis and ROS regulation for osteoporosis therapy.

Chrysoeriol (CHE) is a naturally occurring compound with established anti-inflammatory and anti-tumor effects. This study examines its potential role in regulating osteoclast differentiation and activity, both of which are crucial for bone remodeling. Computational docking revealed high binding affinity between CHE and RANKL, specifically at the Lys-181 residue of RANKL, suggesting potential inhibitory interactions on osteoclastogenesis.

Berberine restrains non-small cell lung cancer cell growth, invasion and glycolysis via inactivating the SPC25/NUF2 pathway.

Berberine (BBR) has been proved to inhibit the malignant progression of non-small cell lung cancer (NSCLC), but the underlying molecular mechanism still needs to be further revealed. NSCLC cells (A549 and H1299) were treated with BBR. CCK8 assay, colony formation assay, flow cytometry, TUNEL staining and transwell assay were used to examine cell proliferation, apoptosis and invasion.

Network Abnormalities in Ischemic Stroke: A Meta-analysis of Resting-State Functional Connectivity.

Aberrant large-scale resting-state functional connectivity (rsFC) has been frequently documented in ischemic stroke. However, it remains unclear about the altered patterns of within- and across-network connectivity. The purpose of this meta-analysis was to identify the altered rsFC in patients with ischemic stroke relative to healthy controls, as well as to reveal longitudinal changes of network dysfunctions across acute, subacute, and chronic phases.

Nobiletin: a potential erythropoietin receptor activator protects renal cells against hypoxia.

Tangerine peel is a traditional Chinese herb and has been widely applied in foods and medicine for its multiple pharmacological effects. Erythropoietin receptor (EPOR), a member of the cytokine receptor family, is widely expressed in multiple tissues in especial kidney and plays protective effects in adverse physiological and pathological conditions. We hypothesized that it might be EPOR agonists existing in Tangerine peel bring such renal benefits.

Research progress of non-coding RNA regulating the role of PANoptosis in diabetes mellitus and its complications.

Diabetes is a chronic metabolic disease that is endemic worldwide and is characterized by persistent hyperglycemia accompanied by multiple severe complications, including cardiovascular disease, kidney dysfunction, neuropathy, and retinopathy. The pathogenesis of diabetes mellitus and its complications is multifactorial, involving various molecular and cellular pathways. In recent years, research has indicated that mechanisms of cell death play a significant role in the advancement of diabetes and its complications.

Prognostic implications and therapeutic opportunities related to CAF subtypes in CMS4 colorectal cancer: insights from single-cell and bulk transcriptomics.

Cancer-associated fibroblasts (CAFs) significantly influence tumor progression and therapeutic resistance in colorectal cancer (CRC). However, the distributions and functions of CAF subpopulations vary across the four consensus molecular subtypes (CMSs) of CRC. This study performed single-cell RNA and bulk RNA sequencing and revealed that myofibroblast-like CAFs (myCAFs), tumor-like CAFs (tCAFs), inflammatory CAFs (iCAFs), CXCL14CAFs, and MTCAFs are notably enriched in CMS4 compared with other CMSs of CRC.

The incidence of and risk factors for axillary web syndrome with limited shoulder movement after surgery for breast cancer, and the effect of early physical therapy intervention.

Background: The aims of this cohort study were to identify (1) the incidence and risk factors for axillary web syndrome (AWS) with shoulder movement limitation within 4 weeks after axillary lymph node dissection (ALND) for Asian women with breast cancer (BC), and (2) whether early intervention with physical therapy (PT) could improve AWS, and how many PT sessions would be needed.

Methods: A cohort study of patients with BC receiving ALND was performed at Changhua Christian Hospital, Taiwan, between January 2019 and December 2020. Those patients who were diagnosed with AWS with shoulder movement limitation were referred to receive PT twice weekly at the Department of Physical Medicine and Rehabilitation.

Cyclin E1/CDK2 activation defines a key vulnerability to WEE1 kinase inhibition in gynecological cancers.

Upregulation of Cyclin E1 and subsequent activation of CDK2 accelerates cell cycle progression from G1 to S phase and is a common oncogenic driver in gynecological malignancies. WEE1 kinase counteracts the effects of Cyclin E1/CDK2 activation by regulating multiple cell cycle checkpoints. Here we characterized the relationship between Cyclin E1/CDK2 activation and sensitivity to the selective WEE1 inhibitor azenosertib.