Evaluating the impact of modeling choices on the performance of integrated genetic and clinical models.

Purpose: The value of genetic information for improving the performance of clinical risk prediction models has yielded variable conclusions. Many methodological decisions have the potential to contribute to differential results. We performed multiple modeling experiments integrating clinical and demographic data from electronic health records (EHR) with genetic data to understand which decisions may affect performance.

Pediatric Soft Tissue Sarcoma in Limb-Girdle Muscular Dystrophy: Molecular Findings and Clinical Implications.

BACKGROUND Limb-girdle muscular dystrophy recessive 1 (LGMDR1) is an autosomal recessive degenerative muscle disorder characterized by progressive muscular weakness caused by pathogenic variants in the CAPN3 gene. Desmoplastic small round cell tumors (DSRCT) are ultra-rare and aggressive soft tissue sarcomas usually in the abdominal cavity, molecularly characterized by the presence of a EWSR1::WT1 fusion transcript. Mouse models of muscular dystrophy, including LGMDR1, present an increased risk of soft tissue sarcomas.

Prospective Analysis of Central Nervous System Infection Risks in Varicella-Zoster Virus Reactivation Cases: A Single-Center Prospective Study of 1030 Cases.

BACKGROUND This study aimed to analyze the risk factors of central nervous system (CNS) infection caused by reactivation of varicella zoster virus (VZV) and provide reference for the prevention and early diagnosis of VZV-associated CNS infection. MATERIAL AND METHODS A prospective study was conducted on 1030 patients with acute herpes zoster (HZ) admitted to our hospital from January 2021 to June 2023. According to clinical manifestations and auxiliary examinations, they were divided into HZ group of 990 patients and VZV-associated CNS infection group of 40 patients.

LncRNA PGM5-AS1 Impairs the Resistance of Cervical Cancer to Cisplatin by Regulating the Hippo and PI3K-AKT Pathways.

Cisplatin, a platinum-based chemotherapeutic agent, can be used to treat cervical cancer (CC), but cisplatin resistance is increased during the cisplatin treatment. Long non-coding RNA PGM5-AS1 reportedly participates in CC tumorigenesis; however, its role in CC patients with cisplatin resistance has not been revealed. The present aimed to examine the role of PGM5-AS1 in modulating cisplatin resistance in CC.

Inactivation of the SLC25A1 gene during embryogenesis induces a unique senescence program controlled by p53.

Germline inactivating mutations of the SLC25A1 gene contribute to various human disorders, including Velocardiofacial (VCFS), DiGeorge (DGS) syndromes and combined D/L-2-hydroxyglutaric aciduria (D/L-2HGA), a severe systemic disease characterized by the accumulation of 2-hydroxyglutaric acid (2HG). The mechanisms by which SLC25A1 loss leads to these syndromes remain largely unclear. Here, we describe a mouse model of SLC25A1 deficiency that mimics human VCFS/DGS and D/L-2HGA.

Multicenter retrospective study on advancements in diagnosis and laparoscopic treatment of hepatic echinococcosis in Xinjiang China.

With the advancement of precise hepatobiliary surgery concepts, the diagnostic and therapeutic approaches for hepatic echinococcosis have undergone significant transformations. However, whether these changes have correspondingly improved patient outcomes remains unclear. A retrospective analysis of these changes will provide crucial guidance for the prevention and treatment of hepatic echinococcosis.

Bufalin Ameliorates Myocardial Ischemia/Reperfusion Injury by Suppressing Macrophage Pyroptosis via P62 Pathway.

Bufalin, which is isolated from toad venom, exerts positive effects on hearts under pathological circumstance. We aimed to investigate the effects and mechanisms of bufalin on myocardial I/R injury. In vivo, bufalin ameliorated myocardial I/R injury, which characteristics with better ejection function, decreased infarct size and less apoptosis.

Diagnostic Value and Short-Term Prognosis Assessment of Copeptin in Non-ST-Elevation Acute Coronary Syndrome.

This study explored the early diagnosis and prognostic value of copeptin in non-ST-segment elevation acute coronary syndrome (NSTE-ACS). 171 patients with chest pain or myocardial ischemia symptoms were enrolled. Patients with NSTE-ACS were further divided into the non-ST-elevation myocardial infarction (NSTEMI) and unstable angina (UA).

Genetic polymorphism in β-site amyloid precursor protein-cleaving enzyme 1 affects the structure of medial temporal lobe and cognition in Alzheimer's disease: an exploratory study.

The β-site amyloid precursor protein-cleaving enzyme 1 (BACE1) gene polymorphism (rs638405) has been widely reported to be associated with Alzheimer's disease (AD) risk. However, studies on the relationship between BACE1 gene polymorphism (rs638405), brain volume, and cognition in AD patients remain scarce. To investigate the effect of genetic polymorphism in BACE1 on gray matter volume (GMV) and cognition in AD, this study recruited 111 cognitively unimpaired (CU) controls and 144 AD patients.

A multicentre, prospective cohort study comparing two endoscopic procedures for the treatment of gastric muscularis propria lesions.

To date, no prospective study has been conducted to compare the safety and effectiveness of endoscopic snare resection with an elastic band (ESR-EB) and endoscopic snare resection with a transparent cap (ESR-C) for treating gastric muscularis propria lesions. We aimed to compare the safety and effectiveness of ESR-EB with those of ESR-C for gastric muscularis propria lesions less than 10 mm in diameter. A total of 64 patients were enrolled prospectively from May 2023 to November 2023 at Shenzhen Hospital of Southern Medical University, the First Affiliated Hospital of Shantou University, and the People's Hospital of Zhongshan City.

Gold nanoclusters/manganese dioxide nanosheets hybrid nanozyme with fluorescence and oxidase-like activity for dual-mode detection of acetylcholinesterase and inhibitors screening.

The abnormal expression of acetylcholinesterase (AChE) is linked to the development of various diseases. Accurate determination of AChE activity as well as screening AChE inhibitors (AChEIs) holds paramount importance for early diagnosis and treatment of AChE-related diseases. Herein, a fluorescent and colorimetric dual-channel probe based on gold nanoclusters (AuNCs) and manganese dioxide nanosheets (MnO NSs) was developed.

EAES rapid guideline: surgical management of complicated diverticulitis - with ESCP participation.

Background: The surgical management of complicated diverticulitis varies across Europe. EAES members prioritized this topic to be addressed by a clinical practice guideline through an online questionnaire.

Objective: To develop evidence-informed clinical practice recommendations for key stakeholders involved in the treatment of complicated diverticulitis; to improve operative and perioperative outcomes, patient experience and quality of life through a systematic evidence-to-decision approach by a diverse, multidisciplinary panel.

Surgical management of complicated diverticulitis: systematic review and individual patient data network meta-analysis : An EAES/ESCP collaborative project.

Background: We performed a systematic review and network meta-analysis (NMA) of individualized patient data (IPD) to inform the development of evidence-informed clinical practice recommendations.

Methods: We searched MEDLINE, Embase, and Cochrane Central in October 2023 to identify RCTs comparing Hartmann's resection (HR), primary resection and anastomosis (PRA), or laparoscopic peritoneal lavage (LPL) among patients with class Ib-IV Hinchey diverticulitis. Outcomes of interest were prioritized by an international, multidisciplinary panel including two patient partners.

Geriatric Nutrition Risk Index is closely associated with sarcopenia and quality of life in gastric cancer patients: a cross-sectional study.

Impaired nutritional status is closely related to the development of sarcopenia and poor quality of life (QoL) in cancer patients. This study aimed to investigate the association of Geriatric Nutritional Risk Index (GNRI) with sarcopenia and QoL in patients with gastric cancer (GC). Sarcopenia was diagnosed based on the Asian Working Group for Sarcopenia 2019 criteria.

High Incidence of syphilis seroconversion among people living with HIV in Hainan, south China.

Globally, people living with HIV (PLHIV) are at a high risk of syphilis transmission, and Hainan Province has one of the highest syphilis rates in China. However, there is no targeted syphilis screening for HIV patients in Hainan, highlighting the need for data to guide public health interventions. This study aims to assess the incidence of seropositive syphilis and its associated factors among PLHIV.

Association between stress hyperglycemia ratio and mortality in patients with heart failure complicated by sepsis.

Individuals afflicted with heart failure complicated by sepsis often experience a surge in blood glucose levels, a phenomenon known as stress hyperglycemia. However, the correlation between this condition and overall mortality remains unclear. 869 individuals with heart failure complicated by sepsis were identified from the Medical Information Mart for Intensive Care-IV (MIMIC-IV) database and categorized into five cohorts based on their stress hyperglycemia ratio (SHR).

Association between blood manganese and cardiovascular diseases among U.S. adult population.

Manganese (Mn) is a known toxicant and an essential trace element, and it plays an important role in various mechanisms in relation to cardiovascular health. However, epidemiological studies of the association between blood Mn and cardiovascular diseases (CVD) among U.S.

Metabolic profiling reveals altered amino acid and fatty acid metabolism in children with Williams Syndrome.

Williams Syndrome (WS) is a rare neurodevelopmental disorder with a prevalence of 1 in 7500 to 1 in 20,000 individuals, caused by a microdeletion in chromosome 7q11.23. Despite its distinctive clinical features, the underlying metabolic alterations remain largely unexplored.

Endograft-specific hemodynamics after endovascular aneurysm repair: a CFD analysis.

Intraluminal prosthetic graft thrombus (IPT) has been described in case of endovascular aortic pathology repair. This study aimed to assess hemodynamic indicators associated with various anatomical morphologies following endovascular aortic repair (EVAR), aiming to offer further references for the choice of clinical therapy. Six model models (normal, iliac compression, aortic compression, aortoiliac compression, iliac distortion, and long-leg stent) were established based on common anatomical morphologies following EVAR.

Deep learning radiomics on grayscale ultrasound images assists in diagnosing benign and malignant of BI-RADS 4 lesions.

This study aimed to explore a deep learning radiomics (DLR) model based on grayscale ultrasound images to assist radiologists in distinguishing between benign breast lesions (BBL) and malignant breast lesions (MBL). A total of 382 patients with breast lesions were included, comprising 183 benign lesions and 199 malignant lesions that were collected and confirmed through clinical pathology or biopsy. The enrolled patients were randomly allocated into two groups: a training cohort and an independent test cohort, maintaining a ratio of 7:3.

Enhancing antibody levels and T cell activity of quadrivalent influenza vaccine by combining it with CpG HP021.

Influenza virus infections are a serious danger to people's health worldwide as they are responsible for seasonal flu outbreaks. There is an urgent need to improve the effectiveness and durability longevity of the immune response to influenza vaccines. We synthesized the CpG HP021 and examined the impact of it on the immune response to an influenza vaccine.

Evolutionary game analysis on the regulation of medical devices used in health services delivery.

Medical devices (MDs) play a critical role in healthcare delivery while also bringing potential medical risks and unintended harms to patients. Although government regulation is well recognized as a critical and essential function for ensuring the safety of MDs in many countries, the supplementary role that hospitals play is often neglected. This paper constructs a tripartite evolutionary game model involving the government, hospitals, and MDs enterprises to explore their strategic behaviors of MDs regulation in healthcare delivery.

Predictive nomogram of ultrasound indicators for the termination outcome of caesarean scar pregnancy.

To develop and validate a nomogram for predicting the risk of adverse events (intraoperative massive haemorrhage or retained products of conception) associated with the termination of Caesarean scar pregnancy (CSP). Data were retrospectively collected from patients diagnosed with CSP who underwent Dilation and Curettage (D&C) at two hospitals. This data was divided into internal and external cohorts for analysis.

Development of respiratory motion-resolved hepatobiliary phase cine-magnetic resonance imaging for stereotactic body radiotherapy in liver tumor.

Cine-magnetic resonance imaging (MRI) has been used to track respiratory-induced motion of the liver and tumor and assist in the accurate delineation of tumor volume. Recent developments in compressed sensitivity encoding (SENSE; CS) have accelerated temporal resolution while maintaining contrast resolution. This study aimed to develop and assess hepatobiliary phase (HBP) cine-MRI scans using CS.

Serum lipid profiling reveals characteristic lipid signatures associated with stroke in patients with leukoaraiosis.

Many lipid biomarkers of stroke have been identified, but the lipid metabolism in elderly patients with leukoaraiosis remains poorly understood. This study aims to explore lipid metabolic processes in stroke among leukoaraiosis patients, which could provide valuable insights for guiding future antithrombotic therapy. In a cohort of 215 individuals undergoing MRI, 13 stroke patients were matched with controls, and 48 stroke patients with leukoaraiosis were matched with 40 leukoaraiosis patients.