Impact of NAFLD-related SNPs on the carotid atherosclerosis development; a five-year prospective observational study.

Background And Aims: The prevalence of metabolic dysfunction associated steatotic liver disease (MASLD), formerly known as nonalcoholic fatty liver disease (NAFLD), has become a significant public health concern with an increased atherosclerotic cardiovascular disease risk. This study investigates the impact of NAFLD-related single nucleotide polymorphisms (SNPs) on carotid atherosclerosis development in a Japanese population without diabetes, dyslipidemia, and hypertension.

Methods: The prospective observational study, part of the Kyushu and Okinawa Population Study (KOPS), included 945 participants (median age 55 [47, 63]) without carotid atherosclerosis, increased alcohol intake, diabetes, dyslipidemia, hypertension, or chronic hepatitis at baseline.

Aarskog-Scott syndrome: a clinical study based on a large series of 111 male patients with a pathogenic variant in and management recommendations.

Background: Aarskog-Scott syndrome (AAS) is a rare condition with multiple congenital anomalies, caused by hemizygote variants in the gene. Its description was based mostly on old case reports, in whom a molecular diagnosis was not always available, or on small series. The aim of this study was to better delineate the phenotype and the natural history of AAS and to provide clues for the diagnosis and the management of the patients.

The Financial Impact of Ehlers-Danlos Syndromes on Patients in the United States in 2022.

Objective: To determine the financial impact of Ehlers-Danlos syndromes (EDS) on patients in the United States by examining the medical expenses incurred by patients.

Patients And Methods: We used a convenience sample approach and disseminated a self-reported survey questionnaire to individuals with EDS via patient advocacy organizations and support groups across the country, social media, and health professionals from April 1, 2023, to December 31, 2023. The survey focused on the out-of-pocket medical expenses incurred by patients.

Dual Psychosocial Screening of the Adolescent Patient by Implementing the Safe Environment for Every Kid Teen Questionnaire.

Objective: This study introduces the SEEK Teen Questionnaire, expanding the Safe Environment for Every Kid (SEEK) approach to include adolescent perspectives alongside caregiver responses for dual psychosocial screening. The objective of this study was to triangulate adolescent responses with those of their caregivers to demonstrate the benefits of dual psychosocial screening.

Methods: The SEEK Teen Questionnaire was developed by integrating input from primary care and adolescent medicine professionals, national experts, and adolescent stakeholders.

Treatment approaches to horses with acute diarrhea admitted to referral institutions: A multicenter retrospective study.

Background: This study aimed to describe and compare therapeutic approaches for horses with acute diarrhea in different geographic regions worldwide.

Methods: Clinical information was retrospectively collected from diarrheic horses presented to participating institutions between 2016 and 2020, including fluid therapy on admission, antimicrobial drugs, probiotics, anti-endotoxic medications, anti-inflammatory drugs, gastroprotectants, digital cryotherapy, and toxin-binding agents. Seasonal and geographic differences were investigated.

Anterior cruciate ligament reconstruction with suture tape augmentation in the high-risk, young population.

Introduction: This study evaluated patient-reported outcome measures and reinjury rates in higher-risk adolescents and young adults aged 14-25 years old following Anterior Cruciate Ligament reconstruction using autograft with suture tape augmentation (SA ACLR).

Materials And Methods: We performed a retrospective case series of patients aged 14-25 who underwent SA ACLR by a single surgeon between 2016 and 2020. After a minimum of 2 years of follow-up, data was collected on reinjury and patient reported outcome measures, including Knee Injury and Osteoarthritis Outcome Score (KOOS), Marx Activity Rating Scale (MARS), Single Assessment Numeric Evaluation (SANE), and Visual Analog Pain Scale (VAPS).

Improving genetic testing pathways for transthyretin amyloidosis in France: challenges and strategies.

Transthyretin amyloidosis (ATTR) is a severe and rare disease characterized by the progressive deposition of misfolded transthyretin proteins, causing irreversible organ damage. Transthyretin amyloidosis can present as a hereditary ATTR or acquired wild-type ATTR form. Genetic testing is critical for determining a hereditary predisposition and subsequently initiating appropriate family screening.

Effects of carotenoid supplementation on glycemic control: a systematic review and meta-analysis of randomized clinical trials.

Objectives: We conducted a systematic review and meta-analysis to assess the effects of carotenoid supplementation on glycemic indices, and the certainty of evidence.

Methods: A systematic literature search in PubMed, SCOPUS, ISI-Web of Science, and Cochrane Library was conducted from inception up to Jun 17, 2024. Randomized controlled trials (RCTs) investigating the effect of carotenoid supplementation on circulating glycemic parameters were included.

A Phase I First-in-Human Study of ABBV-011, a Seizure-Related Homolog Protein 6-Targeting Antibody-Drug Conjugate, in Patients with Small Cell Lung Cancer.

Purpose: Seizure-related homolog protein 6 (SEZ6) is a novel target expressed in small cell lung cancer (SCLC). ABBV-011, a SEZ6-targeted antibody conjugated to calicheamicin, was evaluated in a phase I study (NCT03639194) in patients with relapsed/refractory SCLC. We report initial outcomes of ABBV-011 monotherapy.

Parent and child opinion on the use of standing desks in the classroom.

Objective: Standing desks present a novel approach to reduce sedentary time in the classroom and address cardiovascular risk factors at an early age. In the context of designing a standing desk study, parents and children were surveyed regarding their perceptions and current use of standing desks and other flexible seating.

Methods: Survey administered from January 31st to February 26th, 2024 to a convenience cohort of 50 parent-child pairs presenting for well or acute care at a pediatrics clinic affiliated with an academic institution (Hershey, Pennsylvania, United States).

Systematic mapping review of player safety, sport science and clinical care in lacrosse.

Objective: The objective is to comprehensively classify the types, topics and populations represented in the published lacrosse literature.

Design: Mapping review. Protocol registration at Open Science Framework (https://osf.

Copy Number Variation and Epilepsy: State of the Art in the Era of High-Throughput Sequencing-A Multicenter Cohort Study.

Background: Genetic epilepsy diagnosis is increasing due to technological advancements. Although the use of molecular diagnosis is increasing, chromosomal microarray analysis (CMA) remains an important diagnostic tool for many patients. We aim to explore the role and indications of CMA in epilepsy, given the current genomic advances.

Estimates of the excess cost burden of Ehlers-Danlos syndromes: a United States MarketScan® claims database analysis.

Introduction: Patients with Ehlers-Danlos syndromes (EDS) and hypermobility spectrum disorders (HSD) have significant health challenges that are well-documented, however their impact in terms of cost is not known. Our research objective was to examine the cost burden of EDS and HSD in the United States. We focused this analysis on those with commercial insurance plans.

Adherence to the Dietary Approaches to Stop Hypertension (DASH) diet is associated with lower visceral and hepatic lipid content in recent-onset type 1 diabetes and type 2 diabetes.

Aim: To investigate the associations of the Dietary Approaches to Stop Hypertension (DASH) score with subcutaneous (SAT) and visceral (VAT) adipose tissue volume and hepatic lipid content (HLC) in people with diabetes and to examine whether changes in the DASH diet were associated with changes in these outcomes.

Methods: In total, 335 participants with recent-onset type 1 diabetes (T1D) and type 2 diabetes (T2D) from the German Diabetes Study were included in the cross-sectional analysis, and 111 participants in the analysis of changes during the 5-year follow-up. Associations between the DASH score and VAT, SAT and HLC and their changes were investigated using multivariable linear regression models by diabetes type.

Intensive induction chemotherapy vs hypomethylating agents in combination with venetoclax in NPM1-mutant AML.

Although intensive induction chemotherapy (IC) remains the standard of care for younger patients with acute myeloid leukemia (AML), hypomethylating agents + venetoclax (HMA/VEN) can lead to durable remission among older patients with nucleophosmin 1 (NPM1) mutations. Whether IC or HMA/VEN is superior in patients aged ≥60 years with NPM1-mutant AML is unknown. We performed an international, multicenter retrospective cohort study of 221 patients (147 IC and 74 HMA/VEN) with previously untreated NPM1-mutant AML.

Clinical spectrum of rare bone fragility disorders and response to bisphosphonate treatment: a retrospective study.

Osteogenesis Imperfecta (OI) is a clinically and genetically heterogeneous group of diseases characterized by brittle bones. Though genetic mutations in COL1A1 and COL1A2 account for approximately 85-90% of OI cases, there are now more than twenty genes described, responsible for rare forms of OI. Treatment is based on the use of bisphosphonates and though it is well established that they increase lumbar spine (LS) bone mineral density (BMD), the clinical impact on fracture reduction is still debated.

Characterising incident opioid use among incident users of prescription sedative hypnotics: A national cohort study.

Objective: To evaluate co-prescribing of sedatives hypnotics and opioids.

Design: Retrospective study evaluating the association of patient characteristics and comorbidities with coprescribing.

Setting And Participants: Using the national Merative MarketScan Database between 2005 and 2018, we identified patients who received an incident sedative prescription with or without subsequent, incident opioid prescriptions within a year of the sedative prescription in the USA.