The FSHD jigsaw: are we placing the tiles in the right position?

Purpose Of Review: Facioscapulohumeral muscular dystrophy (FSHD) is one of the most common myopathies, involving over 870,000 people worldwide and over 20 FSHD national registries. Our purpose was to summarize the main objectives of the scientific community on this topic and the moving trajectories of research from the past to the present.

Recent Findings: To date, research is mainly oriented toward deciphering the molecular and pathogenetic basis of the disease by investigating DUX4-mediated muscle alterations.

Estimating the workload of a multi-disciplinary care team using patient-level encounter histories.

Healthcare spending in the United States is concentrated on a small percentage of individuals, with 5% of the population accounting for 50% of annual spending. Many patients among the top 5% of spenders have complex health and social needs. Care coordination interventions, often led by a multidisciplinary team consisting of nurses, community health workers and social workers, are one strategy for addressing the challenges facing such patients.

Deoxycholic Acid for Dercum Disease: Repurposing a Cosmetic Agent to Treat a Rare Disease.

Dercum disease is a rare condition characterized by multiple painful fatty tumors distributed throughout the body. There currently are no US Food and Drug Administration-approved treatments for Dercum disease, and the treatments tried have shown little to no efficacy, leaving many patients with a profoundly negative impact on quality of life. We present a case series of 3 patients who were diagnosed with Dercum disease and were treated with deoxycholic acid (DCA), a therapy approved for adipolysis of submental fat.

Methadone Induction for a Patient With Precipitated Withdrawal in the Emergency Department: A Case Report.

In the era of illicit fentanyl, reports on difficulties with buprenorphine inductions for patients with opioid use disorder are emerging. Methadone is the only other approved medication treatment with efficacy similar to buprenorphine but without risks of precipitated withdrawal. Unfortunately, outpatient methadone inductions can take days to weeks to complete, due in part to regulations that limit administration to opioid treatment programs.

Personalized versus generic digital weight loss interventions delivered on university campuses: a 6-month cost-benefit analysis.

Cost-effectiveness analyses of weight loss programs for university students can inform administrator decision-making. This study quantifies and compares the costs and cost-effectiveness of implementing two digitally-delivered weight loss interventions designed for university populations. Healthy Body Healthy U (HBHU) was a randomized controlled trial comparing TAILORED (personalized) versus TARGETED (generic) weight loss interventions adapted specifically for young adults to a CONTROL intervention.

Triazole-linked Nucleic Acids: Synthesis, Therapeutics and Synthetic Biology Applications.

This article covers the triazole-linked nucleic acids where the triazole linkage (TL) replaces the natural phosphate backbone. The replacement is done at either a few selected linkages or all the phosphate linkages. Two triazole linkages, the four-atom TL1 and the six-atom TL2, have been discussed in detail.

Nonlethally assessing elasmobranch ontogenetic shifts in energetics.

Body condition is an important proxy for the overall health and energetic status of fishes. The classically used Fulton's condition factor requires length and mass measurements, but mass can be difficult to obtain in large species. Girth measurements can replace mass for wild pelagic sharks.

Critical challenges and advances in recombinant adeno-associated virus (rAAV) biomanufacturing.

Gene therapy is a promising therapeutic approach for genetic and acquired diseases nowadays. Among DNA delivery vectors, recombinant adeno-associated virus (rAAV) is one of the most effective and safest vectors used in commercial drugs and clinical trials. However, the current yield of rAAV biomanufacturing lags behind the necessary dosages for clinical and commercial use, which embodies a concentrated reflection of low productivity of rAAV from host cells, difficult scalability of the rAAV-producing bioprocess, and high levels of impurities materialized during production.

Association Between Body Mass Index and Cancer Screening Adherence Among Latinas in the United States and Puerto Rico.

Background: Research on the role of body size on cancer screening is mixed with few studies among Latinas in the United States. We evaluated the association between body size and cancer screening adherence among Latinas living in Puerto Rico and the rest of the United States.

Methods: We conducted a cross-sectional study using 2012-2018 Behavioral Risk Factor Surveillance System data among Latinas 50-64 years of age ( = 16,410).

Formulation Studies to Develop Low-Cost, Orally-Delivered Secretory IgA Monoclonal Antibodies for Passive Immunization Against Enterotoxigenic Escherichia coli.

Enterotoxigenic Escherichia coli (ETEC) is a common cause for diarrheal infections in children in low- and middle-income countries (LMICs). To date, no ETEC vaccine candidates have been approved. Passive immunization with low-cost, oral formulations of secretory IgA (sIgA) against ETEC is an alternative approach to protect high-risk populations in LMICs.

Structural Elucidation of a Protective B Cell Epitope on Outer Surface Protein C (OspC) of the Lyme Disease Spirochete, Borreliella burgdorferi.

Outer surface protein C (OspC) plays a pivotal role in mediating tick-to-host transmission and infectivity of the Lyme disease spirochete, Borreliella burgdorferi. OspC is a helical-rich homodimer that interacts with tick salivary proteins, as well as components of the mammalian immune system. Several decades ago, it was shown that the OspC-specific monoclonal antibody, B5, was able to passively protect mice from experimental tick-transmitted infection by B.

Towards a Heuristic Neuropsychological Model of Adjudicative Competency.

This study sought to delineate the neuropsychological processes that undergird the psycho-legal concept of competency to stand trial (CST). Accordingly, we retrospectively examined the relationship between clinical judgments of competence or incompetence of defendants committed to a maximum-security psychiatric facility and neuropsychological measures of cognitive and social intelligence and declarative memory. Results indicated that both groups (competent and incompetent) showed similar levels of depressed cognitive intelligence with Wechsler full-scale IQ levels falling in the upper end of the borderline range.

Patient and provider-level drivers of healthcare utilization related to a diagnosis of a precancerous condition: monoclonal gammopathy of undetermined significance (MGUS).

Purpose: Monoclonal gammopathy of undetermined significance (MGUS) is the precursor of multiple myeloma. This qualitative study described patient (n = 14) experiences and healthcare providers' (n = 8) opinions and practices concerning care for patients with MGUS in the US.

Methods: Semi-structured, in-depth interviews were analyzed using thematic analysis.

Nurse-Engineer Partnerships in Academia.

This is the fourth article in a series on nurse innovators, which focuses whenever possible on nurse-engineer partnerships and outlines working, replicable models of collaboration between the two disciplines. In this installment, we explore the work of four engineers who are forging a path to strengthen nurse-engineer partnerships through their work in academia. Their experiences exemplify the work of nurse-engineer teams, inform ways to employ these teams, and reveal the insights that result when these disciplines collaborate in real time to solve health care problems.

Public Works Employees and Posttruamatic Stress Disorder: an At-Risk Population.

Although not widely known, public works employees in the United States were designated as emergency providers during critical incidents in 2003 and have provided these public works services, when activated. These public works employees may be either employees of a specific government entity or, more recently, privately contracted employees who provide similar services for a government entity. First responders working critical incidents are at risk for psychological trauma and posttraumatic stress disorder (PTSD).

Multimorbidity in patients with monoclonal gammopathy of undetermined significance.

Monoclonal gammopathy of undetermined significance (MGUS), a precursor to multiple myeloma, is present in over 5% of adults aged 70 and older, a population with a high prevalence of multimorbidity. MGUS is often diagnosed incidentally when patients seek care for unrelated conditions. Our study sought to examine patterns of multimorbidity among MGUS patients, as overall health may impact patient care and the prioritization of MGUS surveillance.

Changes in Stage at Presentation among Lung and Breast Cancer Patients During the COVID-19 Pandemic.

Background: The COVID-19 pandemic altered access to healthcare by decreasing the number of patients able to receive preventative care and cancer screening. We hypothesized that, given these changes in access to care, radiologic screening for breast and lung cancer would be decreased, and patients with these cancers would consequently present at later stages of their disease.

Study Design: This is a retrospective cross-sectional study of 2017 to September 2021 UMass Memorial Tumor Registry data for adult breast and lung cancer patients.

Early and progressive mobility in a community hospital: A new interdisciplinary safe patient handling and mobility model.

An early mobility program in a small community hospital resulted in high levels of staff engagement and decreased rates for falls and heel and sacral pressure injuries.

Commentary: A Radiologist's Guide to Peer-Reviewing Manuscripts.

Reviewers play an important role in the publishing of radiology articles. When done well, reviewers help editors identify which articles to accept and improve them through their recommendations. In this commentary, we provide a step-by-step guide to reviewing both original science and review articles.

Production and characterization of monoclonal antibodies to Xenopus proteins.

Monoclonal antibodies are powerful and versatile tools that enable the study of proteins in diverse contexts. They are often utilized to assist with identification of subcellular localization and characterization of the function of target proteins of interest. However, because there can be considerable sequence diversity between orthologous proteins in Xenopus and mammals, antibodies produced against mouse or human proteins often do not recognize Xenopus counterparts.

Fluoride exposure and hypothyroidism in a Canadian pregnancy cohort.

Background: While fluoride can have thyroid-disrupting effects, associations between low-level fluoride exposure and thyroid conditions remain unclear, especially during pregnancy when insufficient thyroid hormones can adversely impact offspring development.

Objectives: We evaluated associations between fluoride exposure and hypothyroidism in a Canadian pregnancy cohort.

Methods: We measured fluoride concentrations in drinking water and three dilution-corrected urine samples and estimated fluoride intake based on self-reported beverage consumption.

The Power and Promise of Postpartum Self Care: Evaluation of a Web-Based Tool for Underserved Women.

Objectives: Joyuus is a culturally diverse, comprehensive online tool designed to address the self-care needs of underserved postpartum women. The tool provides actionable self-care information, knowledge, and skills to improve postpartum health and identifies red flags for when self-care shifts to seeking care.

Methods: We employed a mixed-methods multiphase design to evaluate the Joyuus prototype, including a pre-post evaluation (N = 87) to assess behavioral health outcomes before and after using the tool for a one-month period.

Immunological correlates of protection following vaccination with glucan particles containing Cryptococcus neoformans chitin deacetylases.

Vaccination with glucan particles (GP) containing the Cryptococcus neoformans chitin deacetylases Cda1 and Cda2 protect mice against experimental cryptococcosis. Here, immunological correlates of vaccine-mediated protection were explored. Studies comparing knockout and wild-type mice demonstrated CD4 T cells are crucial, while B cells and CD8 T cells are dispensable.