SMCHD1 genetic variants in type 2 facioscapulohumeral dystrophy and challenges in predicting pathogenicity and disease penetrance.

The molecular diagnosis of type 1 facioscapulohumeral muscular dystrophy (FSHD1) relies on the detection of a shortened D4Z4 array at the 4q35 locus. Until recently, the diagnosis of FSHD2 relied solely on the absence of a shortened D4Z4 allele in clinically affected patients. It is now established that most FSHD2 cases carry a heterozygous variant in the SMCHD1 gene.

Prevalence and sequelae of asymptomatic Clostridioides difficile colonization in children with inflammatory bowel disease.

Colonization by Clostridioides difficile is common in children with inflammatory bowel disease (IBD) and complicates both the management of IBD and the diagnosis of C. difficile infection (CDI). There is a paucity of data on rates, risk factors, and outcomes associated with asymptomatic C.

Self-Management Support Apps for Spinal Cord Injury: Results of a Systematic Search in App Stores and Mobile App Rating Scale Evaluation.

Background: The use of mobile technology to meet health needs, widely referred to as mobile health (mHealth), has played a critical role in providing self-management support for chronic health conditions. However, despite its potential benefits, mHealth technologies such as self-management support apps for spinal cord injury (SCI) have received little research attention, and an understanding of their public availability is lacking. Therefore, an overview of these apps is needed to complement findings from the literature for a complete understanding of mHealth self-management support tools for SCI to support the selection and improvement of existing apps and the development of new ones.

Application of Artificial Intelligence in Symptom Monitoring in Adult Cancer Survivorship: A Systematic Review.

Purpose: The adoption of artificial intelligence (AI) in health care may afford new avenues for personalized and patient-centered care. This systematic review explored the role of AI in symptom monitoring for adult cancer survivors.

Methods: A comprehensive search was performed from inception to November 2023 in seven bibliographic databases and three clinical trial registries.

Energy-Based Medical Devices in Plastic Surgery: A Comparison of FDA-Approved Indications to Advertised Claims.

Background: Lasers and energy-based devices are commonly employed in aesthetic medicine. In the United States, the FDA regulates lasers as medical devices, restricting marketing to approved indications and making off-label claims illegal. Despite this, no comprehensive analysis of off-label marketing prevalence exists.

Double-pentagon silicon chains in a quasi-1D Si/Ag(001) surface alloy.

Silicon surface alloys and silicide nanolayers are highly important as contact materials in integrated circuit devices. Here we demonstrate that the submonolayer Si/Ag(001) surface reconstruction, reported to exhibit interesting topological properties, comprises a quasi-one-dimensional Si-Ag surface alloy based on chains of planar double-pentagon Si moieties. This geometry is determined using a combination of density functional theory calculations, scanning tunnelling microscopy, and grazing incidence x-ray diffraction simulations, and yields an electronic structure in excellent agreement with photoemission measurements.

Digital Health Utilization in Spinal Cord Injury: A Descriptive Study of a Population-Based Prospective Cohort.

Objective: The objective of this study was to describe the use of digital health tools by people with spinal cord injury and associated factors.

Design: Cross-sectional data from the 2022 Swiss Spinal Cord Injury Cohort Study (SwiSCI) were analyzed. Descriptive statistics summarized data regarding sociodemographic characteristics, self-management, health, and digital health usage.

Quality of life issues in patients with ductal carcinoma in situ: a systematic review.

Purpose: Ductal carcinoma in situ (DCIS) of the breast is one of the most common pre-invasive cancers diagnosed in women. Quality of life (QoL) is extremely important to assess in studies including these patients due to the favorable prognosis of the disease. The primary objective of this systematic review was to compile a comprehensive list of QoL issues, all existing QoL assessment tools, and patient-reported outcome measures used to assess DCIS.

Interventions to Mitigate the Impact of COVID-19 Among People Experiencing Sheltered Homelessness: Chicago, Illinois, March 1, 2020-May 11, 2023.

To compare the incidence, case-hospitalization rates, and vaccination rates of COVID-19 between people experiencing sheltered homelessness (PESH) and the broader community in Chicago, Illinois, and describe the impact of a whole community approach to disease mitigation during the public health emergency. Incidence of COVID-19 among PESH was compared with community-wide incidence using case-based surveillance data from March 1, 2020, to May 11, 2023. Seven-day rolling means of COVID-19 incidence were assessed for the overall study period and for each of 6 distinct waves of COVID-19 transmission.

Design of the FRESH-teen study: A randomized controlled trial evaluating an adapted emotion regulation weight loss program for adolescents with overweight or obesity and their parent.

Overweight and obesity affect >40% of adolescents. Family-based behavioral treatment (FBT) is the most efficacious behavioral treatment for weight management among youth and consists of nutrition and physical activity education, behavior change skills, and parent skills training. However, the efficacy of FBT decreases for youth as they get older.

French National Protocol for diagnosis and care of facioscapulohumeral muscular dystrophy (FSHD).

Facioscapulohumeral muscular dystrophy (FSHD) is one of the most common genetically inherited myopathies in adults. It is characterized by incomplete penetrance and variable expressivity. Typically, FSHD patients display asymmetric weakness of facial, scapular, and humeral muscles that may progress to other muscle groups, particularly the abdominal and lower limb muscles.

Best practice guidelines on genetic diagnostics of facioscapulohumeral muscular dystrophy: Update of the 2012 guidelines.

The gold standard for facioscapulohumeral muscular dystrophy (FSHD) genetic diagnostic procedures was published in 2012. With the increasing complexity of the genetics of FSHD1 and 2, the increase of genetic testing centers, and the start of clinical trials for FSHD, it is crucial to provide an update on our knowledge of the genetic features of the FSHD loci and renew the international consensus on the molecular testing recommendations. To this end, members of the FSHD European Trial Network summarized the evidence presented during the 2022 ENMC meeting on Genetic diagnosis, clinical outcome measures, and biomarkers.

Rehabilitation delivery models to foster healthy ageing-a scoping review.

Introduction: Rehabilitation is essential to foster healthy ageing. Older adults have unique rehabilitation needs due to a higher prevalence of non-communicable diseases, higher susceptibility to infectious diseases, injuries, and mental health conditions. However, there is limited understanding of how rehabilitation is delivered to older adults.

The EMPOWER Occupational e-Mental Health Intervention Implementation Checklist to Foster e-Mental Health Interventions in the Workplace: Development Study.

Background: Occupational e-mental health (OeMH) interventions significantly reduce the burden of mental health conditions. The successful implementation of OeMH interventions is influenced by many implementation strategies, barriers, and facilitators across contexts, which, however, are not systematically tracked. One of the reasons is that international consensus on documenting and reporting the implementation of OeMH interventions is lacking.

Longitudinal profiling of the intestinal microbiome in children with cystic fibrosis treated with elexacaftor-tezacaftor-ivacaftor.

The intestinal microbiome influences growth and disease progression in children with cystic fibrosis (CF). Elexacaftor-tezacaftor-ivacaftor (ELX/TEZ/IVA), the newest pharmaceutical modulator for CF, restores the function of the pathogenic mutated CF transmembrane conductance regulator (CFTR) channel. We performed a single-center longitudinal analysis of the effect of ELX/TEZ/IVA on the intestinal microbiome, intestinal inflammation, and clinical parameters in children with CF.

SPINT2 mutations in the Kunitz domain 2 found in SCSD patients inactivate HAI-2 as prostasin inhibitor via abnormal protein folding and N-glycosylation.

Mutations in the Kunitz-type serine protease inhibitor HAI-2, encoded by SPINT2, are responsible for the pathogenesis of syndromic congenital sodium diarrhea (SCSD), an intractable secretory diarrhea of infancy. Some of the mutations cause defects in the functionally required Kunitz domain 1 and/or subcellular targeting signals. Almost all SCSD patients, however, harbor SPINT2 missense mutations that affect the functionally less important Kunitz domain 2.

Rehabilitation in primary care for an ageing population: a secondary analysis from a scoping review of rehabilitation delivery models.

Background: The world population is ageing rapidly. Rehabilitation is one of the most effective health strategies for improving the health and functioning of older persons. An understanding of the current provision of rehabilitation services in primary care (PC) is needed to optimise access to rehabilitation for an ageing population.

The EQIPD quality system - Assessment and certification procedures.

The EQIPD Quality System was designed with the ultimate mission to provide a framework to ensure the quality and integrity of non-regulated preclinical biomedical research. For research quality to be sustained over time, it is crucial to have continuous improvement mechanisms that routinely monitor the research-related processes and enable solutions for identified issues. The present article is focused on these monitoring and assessment procedures that make the EQIPD Quality System a fully functional 'system' (as opposed to a mere collection of guidelines, work instructions and policies).

Design and development of a digital intervention for workplace stress and mental health (EMPOWER).

Purpose: We describe the design and development of the European Platform to Promote health and wellbeing in the workplace (EMPOWER) digital intervention that provides an integrative user programme meeting the needs of employees and employers in addressing work stress.

Results: A user-centred design process was followed from January 2020 until November 2021. A tailored algorithm was developed to provide support at the individual employee level and the company level.