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.

Implementation of an Early Referral Programme for Patients With Hand Arthralgia.

Introduction: Rheumatoid arthritis (RA) is a progressive autoimmune inflammatory disease. According to the European League Against Rheumatism (EULAR), the stages of RA progression include pre-RA, preclinical RA, inflammatory arthralgia, arthralgia with positive antibodies, arthralgia suspected of progressing to RA, undifferentiated arthritis and finally established RA. According to the Community Oriented Program for Control of Rheumatic Diseases (COPCORD), the prevalence of RA in Mexico is 1.

Tensor Fasciae Latae and Gluteus Maximus Muscles: Do They Contribute to Hip Abduction?

Hip abductors are essential for hip function. To understand abduction weakness, it is important to know which muscles contribute to abduction force. Our aim was to investigate the effects of an experimentally induced weakness of the different muscles (tensor fasciae latae [TFL], gluteus medius and minimus (Gmed/min), gluteus maximus [Gmax]) on the abduction force.

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.

Within-subject reliability, occasion specificity, and validity of fluctuations of the Stroop and go/no-go tasks in ecological momentary assessment.

Following the (revised) latent state-trait theory, the present study investigates the within-subject reliability, occasion specificity, common consistency, and construct validity of cognitive control measures in an intensive longitudinal design. These indices were calculated applying dynamic structural equation modeling while accounting for autoregressive effects and trait change. In two studies, participants completed two cognitive control tasks (Stroop and go/no-go) and answered questions about goal pursuit, self-control, executive functions, and situational aspects, multiple times per day.

Identification and Evaluation of Natural Compounds as Potential Inhibitors of NS2B-NS3 Zika Virus Protease: A Computational Approach.

The Zika virus (ZIKV), an arbovirus within the Flavivirus genus, is associated with severe neurological complications, including Guillain-Barré syndrome in affected individuals and microcephaly in infants born to infected mothers. With no approved vaccines or antiviral treatments available, there is an urgent need for effective therapeutic options. This study aimed to identify new natural compounds with inhibitory potential against the NS2B-NS3 protease (PDB ID: 5LC0), an essential enzyme in viral replication.

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.

Dynamics of affect modulation in neurodevelopmental disorders (DynAMoND) - study design of a prospective cohort study.

Background: Attention-deficit/hyperactivity disorder (ADHD) is a common neuro-developmental disorder that often persists into adulthood. Moreover, it is frequently accompanied by bipolar disorder (BD) as well as borderline personality disorder (BPD). It is unclear whether these disorders share underlying pathomechanisms, given that all three are characterized by alterations in affective states, either long or short-term.

Predictors of high-flow nasal cannula (HFNC) failure in severe community-acquired pneumonia or COVID-19.

The aim was to identify predictors for early identification of HFNC failure risk in patients with severe community-acquired (CAP) pneumonia or COVID-19. Data from adult critically ill patients admitted with CAP or COVID-19 and the need for ventilatory support were retrospectively analysed. HFNC failure was defined as the need for invasive ventilation or death before intubation.

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).

Perceived effects of health status on sexual activity in patients with axial spondyloarthritis: a 5-year follow-up study.

Axial spondyloarthritis (ax-SpA) causes pain, fatigue, stiffness, loss of physical function, and poor health status, which can influence sexual activity and enjoyment. To explore whether patients with ax-SpA perceive that their health status effects their sexual activity and to identify predictors of these perceived effects on sexual activity after a 5-year follow-up. Data about demographics, disease, medication, health-related quality of life (HRQOL), and sexual quality of life (SQOL) were collected at the baseline and 5-year follow-up.

Neutrophil Extracellular Traps Induce Brain Edema Around Intracerebral Hematoma via ERK-Mediated Regulation of MMP9 and AQP4.

Perihematomal edema (PHE) significantly aggravates secondary brain injury in patients with intracerebral hemorrhage (ICH), yet its detailed mechanisms remain elusive. Neutrophil extracellular traps (NETs) are known to exacerbate neurological deficits and worsen outcomes after stroke. This study explores the potential role of NETs in the pathogenesis of brain edema following ICH.

Mendelian randomization analysis reveals causal effects of migraine and its subtypes on early-onset ischemic stroke risk.

Previous observational studies have suggested at a potential link between migraine, particularly migraine with aura, and the susceptibility to early-onset ischemic stroke. We aimed to investigate the causal effects of genetically determined migraine and its subtypes on the risk of early-onset ischemic stroke using the two-sample Mendelian randomization method. Genetic instrumental variables associated with migraine and its subtypes were acquired from two sources with the largest sample sizes available.

Impact of unintentional weight loss on 30-day mortality in intensive care unit sepsis patients: a retrospective cohort study.

This study aimed to investigate the relationship between unintentional weight loss and 30-day mortality in sepsis patients in the intensive care unit (ICU). A retrospective cohort study sepsis patients in the ICU was conducted using data from the Medical Information Mart for Intensive Care IV (MIMIC-IV) database, involving 1842 sepsis patients in the ICU. We utilized multivariate Cox regression analysis to evaluate the association between unintentional weight loss and the risk of 30-day mortality.

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 case of neuron-derived neurotrophic factor-positive, syphilis-related membranous nephropathy that achieved spontaneous remission.

Neuron-derived neurotrophic factor (NDNF) was discovered as a target antigen in membranous nephropathy (MN) caused by syphilis. However, there have been few reports of NDNF-positive MN in Japan. A 19-year-old female patient was admitted to our hospital with nephrotic syndrome and acute kidney injury.

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.

Long-term use of proton pump inhibitors was associated with rapid progression to end stage kidney disease in a Korean nationwide study.

Proton pump inhibitors (PPIs) are among the most widely used drugs worldwide. However, their influence on the progression of end-stage kidney disease (ESKD) in established chronic kidney disease (CKD) cases is unclear. Using the Korean Health Insurance Review and Assessment database encoded by the Observational Medical Outcomes Partnership-Common Data Model (OMOP-CDM), patients with stage 3 or 4 CKD initiating PPIs or histamine-2 receptor antagonists (H2RAs) for over 90 days were enrolled from 2012 through 2021.

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.

COLOR IV: a multicenter randomized clinical trial comparing intracorporeal and extracorporeal ileocolic anastomosis after laparoscopic right colectomy for colon cancer.

Introduction: Right-sided colon cancer is a prevalent malignancy. The standard surgical treatment for this condition is laparoscopic right hemicolectomy, with ileocolic anastomosis being a crucial step in the procedure. Recently, intracorporeal ileocolic anastomosis has garnered attention for its minimally invasive benefits.