Decoding brain structure to stage Alzheimer's disease pathology in Down syndrome.

Introduction: Alzheimer's disease (AD) in Down syndrome (DS) is associated with changes in brain structure. It is unknown if thickness and volumetric changes can identify AD stages and if they are similar to other genetic forms of AD.

Methods: Magnetic resonance imaging scans were collected for 178 DS adults (106 nonclinical, 45 preclinical, and 27 symptomatic).

Biallelic variants in AGRN with recurrent pregnancy losses in a family with a fetal akinesia deformation sequence.

Introduction: Agrin, encoded by AGRN, plays a vital role in the acetylcholine receptor clustering pathway, and any defects in this pathway are known to cause congenital myasthenic syndrome (CMS) 8 in early childhood with variable fatigable muscle weakness. The most severe or lethal form of CMS manifests as a fetal akinesia deformation sequence (FADS). To date, only one family has been reported with an association of null variants in AGRN and a lethal FADS.

Advance care planning readiness, barriers, and facilitators among seriously ill Black older adults and their surrogates: A mixed methods study.

Objectives: Advance care planning (ACP) supports communication and medical decision-making and is best conceptualized as part of the care planning continuum. Black older adults have lower ACP engagement and poorer quality of care in serious illness. Surrogates are essential to effective ACP but are rarely integrated in care planning.

Assessment of Health Literacy in Parents of Children With Familial Mediterranean Fever Using the Turkish Health Literacy Scale.

Background Health literacy (HL) refers to the ability of individuals to find, understand, and use information and resources to make informed health-related decisions and actions for themselves and others. Managing chronic diseases in children and adolescents requires active family involvement. The primary objective of the study is to evaluate the HL levels of parents of children diagnosed with familial Mediterranean fever (FMF).

A Comprehensive Review of Pathophysiological Link Between Non-alcoholic Fatty Liver Disease, Insulin Resistance, and Metabolic Syndrome.

Non-alcoholic fatty liver disease (NAFLD) is a chronic condition characterized by hepatic steatosis in the absence of significant alcohol consumption and is increasingly recognized as the hepatic manifestation of metabolic syndrome (MetS). This review aims to explore the molecular mechanisms underlying the interaction between NAFLD, insulin resistance (IR), and MetS, with a focus on identifying therapeutic targets. A comprehensive review of existing literature on NAFLD, IR, and MetS was conducted.

Prevalence and Postpartum Screening Practice for Type 2 Diabetes Following Gestational Diabetes (GDM) in a Tertiary Care Center in Western Saudi Arabia: A Three-Year Retrospective Cohort Study.

Objectives This study analyzed the practices and findings on postpartum type 2 diabetes mellitus (T2DM) screening among pregnant women with gestational diabetes mellitus (GDM). Methods A retrospective cohort study was conducted at a tertiary care center in Western Saudi Arabia, between January 1, 2016, and December 31, 2018. It involved 642 nondiabetic women with a confirmed diagnosis of GDM, who were followed until delivery.

Heterogeneous knowledge of childhood seizures and epilepsy care in Canadian healthcare Providers: Identifying the gaps.

Epilepsy is the most common chronic neurological condition in children. Many barriers exist in early recognition which cause delay in care and impact quality of life. Some of these children require advanced treatments which are underutilized due to lack of education, awareness and referrals.

Correlation between Autoimmune Hashimoto's Thyroiditis and Infection: A Case-Control Study.

Background: Among environmental factors, infectious agents, including , can act as triggers for autoimmune thyroid diseases. Therefore, this study aimed to investigate the correlation between autoimmune Hashimoto's thyroiditis with infection.

Methods: The participants in this case-control study were 74 individuals 17-62 years who were divided into two groups, including 38 diagnosed Hashimoto's thyroiditis patients from an outpatient clinic of endocrinology and 36 apparently healthy individuals that were selected from family members of cases group age-matched and sex-matched.

Crimean-Congo hemorrhagic fever, transfer patterns, vectors and history in Iran and neighboring countries.

Crimean-Congo hemorrhagic fever (CCHF) is indeed to be considered as one of the most significant vector-borne diseases globally. The virus responsible for CCHF can persist in various animals and lead to severe infections in humans. Ticks of the family are the acknowledged vectors of CCHF virus (CCHFV) transmission to humans.

Small mammals and associated infections in China: a systematic review and spatial modelling analysis.

Background: As natural reservoirs of diverse pathogens, small mammals are considered a key interface for guarding public health due to their wide geographic distribution, high density and frequent interaction with humans.

Methods: All formally recorded natural occurrences of small mammals (Order: Rodentia, Eulipotyphla, Lagomorpha, and Scandentia) and their associated microbial infections in China were searched in the English and Chinese literature spanning from 1950 to 2021 and geolocated. Machine learning models were applied to determine ecological drivers for the distributions of 45 major small mammal species and two common rodent-borne diseases (RBDs), and model-predicted potential risk locations were mapped.

Characteristics and outcomes of out-of-hospital-cardiac-arrest in rural and suburban areas of Sindh, Pakistan: A cross-sectional study.

Background: Despite extensive research on OHCA in urban centres worldwide, there is a significant gap in knowledge regarding these events in less urbanized regions, especially in Low-Middle-Income Countries (LMICs).

Aim: To determine the characteristics and outcomes of adult out-of-hospital cardiac arrest (OHCA) in rural and suburban districts of Sindh, Pakistan.

Methods: Data of OHCA patients (>18 years) was collected retrospectively from January 2020 to December 2022, from the medical records of district and tehsil hospitals of the province of Sindh Data analysis was performed using the Statistical Package Software for the Social Sciences (SPSS) Statistics 29.

Percutaneous Mechanical Aspiration for Infective Endocarditis: Proceedings From an Inaugural Multidisciplinary Summit and Comprehensive Review.

The clinical presentation and epidemiology of infective endocarditis (IE) have evolved over time. While the cornerstones of IE treatment remain antimicrobial therapy and surgery, percutaneous mechanical aspiration (PMA) has emerged as an option for carefully selected patients as a complementary modality, based on retrospective data, case series, and expert experience. In this comprehensive review, we summarize the proceedings from an inaugural summit dedicated to the discussion of PMA in the global management of IE, consisting of experts across multiple disciplines from diverse geographic regions and care environments.

-Related Muscular Dystrophies, LGMD, and TMD, in an Estonian Family Caused by the Finnish Founder Variant.

Background And Objectives: Tibial muscular dystrophy (TMD) is an autosomal dominant, slowly progressive late-onset distal myopathy. TMD was first described in 1991 by Udd et al. in Finnish patients, who were later found to harbor a heterozygous unique 11-bp insertion/deletion in the last exon of the gene-the Finnish founder variant (FINmaj).

Exploring Mortality and Prognostic Factors of Heart Failure with In-Hospital and Emergency Patients by Electronic Medical Records: A Machine Learning Approach.

Purpose: As HF progresses into advanced HF, patients experience a poor quality of life, distressing symptoms, intensive care use, social distress, and eventual hospital death. We aimed to investigate the relationship between morality and potential prognostic factors among in-patient and emergency patients with HF.

Patients And Methods: A case series study: Data are collected from in-hospital and emergency care patients from 2014 to 2021, including their international classification of disease at admission, and laboratory data such as blood count, liver and renal functions, lipid profile, and other biochemistry from the hospital's electrical medical records.

Student perceptions of U.S. based school day physical activity best practices in relation to accelerometer-based sedentary behavior and activity.

Objective: To examine associations between student perceptions of school physical activity best practices and accelerometer-based physical activity during school days.

Methods: The sample was 758 students in grades 3rd-4th or 6th-7th (female-58 %; 31 % Black/African American) from 33 schools across five school districts in a Mid-Atlantic state in the U.S.

Michigan tobacco cessation champions: A rapid qualitative analysis.

Background: Smoking is the leading cause of preventable death in the United States. We interviewed Tobacco Cessation Champions, multi-sector decision makers, across the state of Michigan to assess and identify barriers and facilitators of smoking cessation and the current smoking cessation landscape.

Methods: Twenty Tobacco Cessation Champion interviews ( = 20) were completed with multi-sector decision makers to assess implementation barriers and facilitators from May 2022 to September 2023.

Assessment of inappropriate use of antibiotics and contributing factors in Awi Administrative Zone, Northwestern Amhara regional State, Ethiopia.

Objectives: Antibiotic misuse is regarded as the single most significant factor contributing to resistance. Thus, this study aimed to evaluate the prevalence and risk variables linked to the inappropriate use of antibiotics in urban and rural districts of the Awi administrative zone community.

Methods: A total of 1194 rural and urban families, including individuals of various ages and genders from the study area were selected by a multistage stratified random sampling method for a comparative cross-sectional study conducted between December 2022 and June 2023.

Resident perceptions of learning challenges in concussion care education.

Background: Resident-focused curricula that support competency acquisition in concussion care are currently lacking. We sought to fill this gap by developing and evaluating Spiral Integrated Curricula (SIC) using the cognitive constructivism paradigm and the Utilization-Focused Evaluation (UFE) framework. The evidence-based curricula consisted of academic half-days (AHDs) and clinics for first- and second-year family medicine residents.

Preventing Infant Mortality Through Medicaid-Administered Prenatal Care Coordination: Evidence From Wisconsin.

Objective: To estimate associations between Wisconsin Medicaid's Prenatal Care Coordination (PNCC) program and infant mortality.

Data Sources And Study Setting: We analyzed birth records, Medicaid claims, and infant death records for all resident and in-state Medicaid-paid live deliveries during 2010-2018.

Study Design: We measured PNCC exposure during pregnancy dichotomously (none; any) and categorically (none; assessment/care plan only; service receipt).

Etiology and Clinical Prediction of Community-Acquired Lower Respiratory Tract Infection in Children.

Background: Community acquired lower respiratory tract infection (LRTI) is a leading cause for hospitalization in children and important cause for antibiotic prescription. We aimed to describe the aetiology of LRTI in children and analyse factors associated with bacterial or viral infection.

Methods: Patients aged < 19 years with a diagnosis of LRTI were identified from the Observational Medical Outcomes Partnership Common Data Model Database of Seoul National University Bundang Hospital from January 2005-July 2019, and their clinical characteristics were obtained from the electronic medical records and retrospectively reviewed.

The Effect of Single Nucleotide Polymorphisms on Clinical Phenotypes of Sabahan Transfusion-Dependent β-Thalassemia Patients with Homozygous Filipino β-Deletion.

Sabah has the highest prevalence of β-thalassemia in Malaysia, with the Filipino β-deletion as the predominant mutation. Patients with the homozygous Filipino β-deletion exhibit phenotypic heterogeneity due to various genetic modifiers, yet the effects of these modifiers on the clinical phenotype remain poorly understood. This study investigated the effects of the coinheritance of α-thalassemia, I-γ rs7482144, rs766432, and 5'HS4 rs16912979 polymorphisms on the clinical phenotype of homozygous Filipino β-deletion patients in Sabah.

Obesity alters the fitness of peritumoral adipose tissue, exacerbating tumor invasiveness in renal cancer through the induction of ADAM12 and CYP1B1.

Obesity exacerbates the risk and aggressiveness of many types of cancer. Adipose tissue (AT) represents a prevalent component of the tumor microenvironment (TME) and contributes to cancer development and progression. Reciprocal communication between cancer and adipose cells leads to the generation of cancer-associated adipocytes (CAAs), which in turn foster tumor invasiveness by producing paracrine metabolites, adipocytokines, and growth factors.

Cardiometabolic Multimorbidity and Dementia Onset among Middle-aged and Older Adults: Differences by Race/Ethnicity.

Background: Racial/ethnic minoritized groups in the U.S. have higher prevalence of cardiometabolic multimorbidity and experience higher risk of dementia.

Molecular mechanisms of the GABA type A receptor function.

The GABA type A receptor (GABAR) belongs to the family of pentameric ligand-gated ion channels and plays a key role in inhibition in adult mammalian brains. Dysfunction of this macromolecule may lead to epilepsy, anxiety disorders, autism, depression, and schizophrenia. GABAR is also a target for multiple physiologically and clinically relevant modulators, such as benzodiazepines (BDZs), general anesthetics, and neurosteroids.