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Clinical and genetic keys to cerebellar ataxia due to FGF14 GAA expansions.

BACKGROUND: SCA27B caused by FGF14 intronic heterozygous GAA expansions with at least 250 repeats accounts for 10-60% of cases with unresolved cerebellar ataxia. We aimed to assess the size and frequency of FGF14 expanded alleles in individuals with cerebellar ataxia as compared with controls and to characterize genetic and clinical variability. METHODS: We sized this repeat in 1876 individuals from France sampled for research purposes in this cross-sectional study: 845 index cases with cerebellar ataxia and 324 affected relatives, 475 controls, as well as 119 cases with spastic paraplegia, a

Comparison of botulinum toxins for treatment of movement disorders: real-world utilization and cost analysis in a national Medicare population.

BACKGROUND: The Centers for Medicare & Medicaid Services (CMS) is the single largest payer for health care in the United States and the largest payer by spending globally. Medicare Part B, with more than 50 million beneficiaries, currently has no broad mechanisms in place for promoting cost-effective care of injectable drugs. OBJECTIVE: To conduct a real-world utilization and cost analysis comparing botulinum toxins in movement disorders. METHODS: The 2017 Medicare Provider Utilization and Payment Data: Physician and Other Supplier dataset from CMS was used for this claims level analysis. Neur

The "Oriental" problem: trachoma and Asian immigrants in the United States, 1897-1910.

This essay examines the period between 1897 and 1910, when trachoma, a contagious eye disease, became an "Oriental" problem that justified e … o condemn inefficient immigration policy and regulate allegedly diseased Asian bodies. In 1910, the federal government made a decision to relegate to steamship companies full responsibility for medical inspection at Asian ports. Since they had to pay a fine for every immigrant excluded at American borders for medical reasons, including trachoma, steamship companies …

The opportunity for health plans to improve quality and reduce costs by embracing primary care medical homes.

BACKGROUND: The large and growing costs of healthcare will continue to burden all payers in the nation's healthcare system-not only the states that are struggling to meet Medicaid costs and the federal government, but also the private health plans that serve commercial, Medicare Advantage, and Medicaid beneficiaries. Cost will increasingly become a concern as millions more people become newly insured as a result of the Patient Protection and Affordable Care Act (ACA). Primary care delivery through patient-centered medical homes (PCMHs) and other coordinated-care models have improved care and r…

Healthy children ready to learn: an essential collaboration between health and education.

The "Healthy Children Ready to Learn" initiative starts with the underlying concept that health is a critical partner to optimum education. All children have a right to be healthy. At a minimum, this right assumes promoting optimum use of available and effective preventive measures, such as ensuring compliance with immunization recommendations; promoting measures to prevent injuries; ensuring opportunities to identify disease and disabilities early; and providing prompt treatment when needed. Families must receive the support and assistance they need to raise healthy and educated children. Act

Leading under uncertainty: a qualitative case study of crisis leadership in Canada's health system.

BACKGROUND: Prolonged public crises challenge leaders to make high-stakes decisions under conditions of uncertainty while sustaining organisational performance and public trust. Understanding how leaders navigate these complex demands is essential for strengthening health system preparedness and resilience. OBJECTIVES: The goal was to explore and unpack lived leadership experiences during a public crisis situation and to unpack how contextual factors shape their behaviours under uncertainty and prolonged disruption. DESIGN: This study was conducted in Canada during the middle phases of the C

Rationale, design, and methodology of My Body Is Fit and Fabulous at school (MyBFF@school) study: a multi-pronged intervention program to combat obesity among Malaysian schoolchildren.

BACKGROUND: Childhood obesity has increased rapidly in recent years and is now a global epidemic. To combat this, MyBFF@school program, a multi-faceted obesity intervention incorporating physical activity in the form of small-sided games (SSG), nutrition, and psychology components for schoolchildren was designed. This paper is aimed at describing the protocol of the MyBFF@school program and presenting the baseline findings including the overweight and obesity prevalence. METHODS: MyBFF@school is a school-based, cluster randomized controlled trial (C-RCT) study. The investigators selected gove

Impact of payment source, referral site, and place of residence on outcomes after allogeneic transplantation in Mexico.

BackgroundThe impact of social determinants of health in allogeneic transplant recipients in low- and middle-income countries is poorly described. This observational study analyzes the impact of place of residence, referring institution, and transplant cost coverage (out-of-pocket vs government-funded vs private insurance) on outcomes after allogeneic hematopoietic stem cell transplantation (alloHSCT) in two of Mexico's largest public and private institutions.AimTo evaluate the impact of social determinants of health and their relationship with outcomes among allogeneic transplant recipients i

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… Outcomes according to payment source Patients treated in the federal government coverage program were younger and received more frequent myeloablative conditioning regimens with calcineurin inhibitor and methotrexate GVHD prophylaxis than the private insurance and OOP groups (Table 3 ). …

Estimated Transmission Outcomes and Costs of SARS-CoV-2 Diagnostic Testing, Screening, and Surveillance Strategies Among a Simulated Population of Primary School Students.

IMPORTANCE: In addition to illness, the COVID-19 pandemic has led to historic educational disruptions. In March 2021, the federal government allocated $10 billion for COVID-19 testing in US schools. OBJECTIVE: Costs and benefits of COVID-19 testing strategies were evaluated in the context of full-time, in-person kindergarten through eighth grade (K-8) education at different community incidence levels. DESIGN, SETTING, AND PARTICIPANTS: An updated version of a previously published agent-based network model was used to simulate transmission in elementary and middle school communities in the Un…

Placental STAT3 signaling is activated in women with polycystic ovary syndrome.

STUDY QUESTION: Does polycystic ovary syndrome (PCOS) in women without pregnancy complications affect placental signal transducer and activa … Science Fund; Hjalmar Svensson Foundation (E.S.-V and M.M.); Adlerbert Research Foundation; Swedish federal government under the LUA/ALF agreement ALFFGBG-136481 and 429501 and the Regional Research and Development agreement (VGFOUREG-5171, -11296 and -7861). MM thanks the Becas Chile Programme (Chile) and University of Chile for financial support through a postdoct …

Effect of age, family history of diabetes, and antipsychotic drug treatment on risk of diabetes in people with psychosis: a population-based cross-sectional study.

BACKGROUND: Psychosis is associated with an increased risk of diabetes mellitus. A positive synergy between antipsychotic drug effects and a … itus protects their patients from the diabetic side-effects of antipsychotics. FUNDING: Australian Federal Government and Orygen.

Safety of Artemisinin-Based Combination Therapies in Nigeria: A Cohort Event Monitoring Study.

BACKGROUND: A pilot programme of Cohort Event Monitoring (CEM) was conducted across the six geopolitical zones of Nigeria on patients treated for uncomplicated malaria with artemisinin-based combination therapy (ACT). The emergence and spread of malaria parasites resistant to commonly available antimalarial drugs necessitated a shift in policy for malaria treatment by the Federal Government from the use of chloroquine and sulphadoxine-pyrimethamine (SP) as first-line treatments to ACTs. Initial reports following deployment of ACTs in clinical settings raised safety concerns regarding their use…

A theory of international bioethics: the negotiable and the non-negotiable.

The preceding article in this issue of the Kennedy Institute of Ethics Journal presents the argument that "moral fundamentalism," the position that international bioethics rests on "basic" or "fundamental" moral prinicples that are universally accepted in all eras and cultures, collapses under a variety of multicultural and postmodern critiques. The present article looks to the contractarian tradition of Hobbes and Locke -- as reinterpreted by David Gauthier, Robert Nozick, and John Rawls -- for an alternative justification for international bioethics. Drawing on the central themes of this tra

Effects of the COVID-19 Pandemic on Orthodontic Practices in Europe: Findings From a Survey by the European Federation of Orthodontics.

BACKGROUND: The COVID-19 pandemic created major disruptions for healthcare systems globally, with dentistry, especially orthodontics, facing challenges due to the nature of close-contact treatments and procedures that generate aerosols. This research, conducted by the European Federation of Orthodontics (FEO), aimed to assess the pandemic's impact on orthodontic practices across Europe and to identify the clinical, financial, and operational adjustments made during this period. METHODOLOGY: An online cross-sectional survey was conducted among orthodontists who are members of national societie

Authorized Seclusion, Restraint, and Safeguards in Home and Community Based Medicaid Programs for Children With Serious Emotional Disturbance.

1915(c) Home and Community-Based Services (HCBS) Medicaid waivers allow states to finance community-based alternatives to institutional psychiatric care for youth with Serious Emotional Disturbance (SED), including diversion from Psychiatric Residential Treatment Facilities (PRTFs). Although federal HCBS policy emphasizes freedom from coercion and restraint, states define which seclusion, restraint, and restrictive interventions (SR/RI) are permitted and what safeguards apply. Waiver applications therefore provide a systematic source for examining how states structure SR/RI authorization and s

U.S. State Marijuana and Delta-8-Tetrahydrocannabinol Laws and Delta-8-Tetrahydrocannabinol Use.

INTRODUCTION: Delta-8-tetrahydrocannabinol has gained popularity since the passage of the 2018 U.S. Farm Bill. The absence of federal laws and varying state regulations governing delta-8-tetrahydrocannabinol have allowed manufacturers to evade restrictions placed on marijuana products. This study examined delta-8-tetrahydrocannabinol use across different state marijuana and delta-8-tetrahydrocannabinol policies. METHODS: A cross-sectional, web-based survey of 1,523 U.S. adults was conducted in October-November 2023. Responses were weighted to represent the national adult population. Inverse-p

Catastrophic injuries and exertional medical events in lacrosse among youth, high school and collegiate athletes: longitudinal surveillance over four decades (1982-2020).

OBJECTIVE: To determine the incidence rates (IRs) of catastrophic injuries and exertional medical events in lacrosse athletes. METHODS: Catastrophic injuries and exertional medical events in lacrosse in the US among youth or amateur, high school and college athletes were analysed from the National Center for Catastrophic Sport Injury Research (NCCSIR) database from 1982/83 to 2019/20. Frequencies, IRs per 100,000 athlete-seasons (AS) with 95% confidence intervals (CIs), and incidence rate ratios (IRRs) with 95% CIs were calculated. Participation data were gathered from the National Federation

A reproducible ensemble machine learning approach to forecast dengue outbreaks.

Dengue fever, a prevalent and rapidly spreading arboviral disease, poses substantial public health and economic challenges in tropical and sub-tropical regions worldwide. Predicting infectious disease outbreaks on a countrywide scale is complex due to spatiotemporal variations in dengue incidence across administrative areas. To address this, we propose a machine learning ensemble model for forecasting the dengue incidence rate (DIR) in Brazil, with a focus on the population under 19 years old. The model integrates spatial and temporal information, providing one-month-ahead DIR estimates at the

Perspectives on research conducted at the Paralympic Games.

BACKGROUND AND PURPOSE: In 1994, the International Paralympic Committee (IPC) established the IPC Sport Science Committee in an effort to bring Paralympic Movement relevant research questions to the academic world. In 1996, the IPC Sport Science Committee put an application system in place, allowing scholars to conduct research at the Paralympic Games. The aim of this perspective paper is to overview the main outcomes of the fifty-six research projects conducted from Atlanta 1996 until PyeongChang 2018 during Paralympic Games' time; and to discuss the state-of-the-art of the IPC Research Strat

Threats to polio eradication in high-conflict areas in Pakistan and Nigeria: a polling study of caregivers of children younger than 5 years.

BACKGROUND: Elimination of poliovirus from endemic countries is a crucial step in eradication; however, vaccination programmes in these areas face challenges, especially in regions with conflict. We analysed interviews with caregivers of children living in two polio-endemic countries to assess whether these challenges are largely operational or also driven by resistance or misinformation in the community. METHODS: We designed and analysed polls based on face-to-face interviews of a random sample of parents and other caregivers of children younger than 5 years in regions of Pakistan and Nigeri