The FDA MyStudies app: a reusable platform for distributed clinical trials and real-world evidence studies.

We developed a mobile application and secure patient data storage platform, FDA MyStudies, to address privacy, engagement, and extensibility challenges in mobile clinical research. The system extends the capabilities of the mobile frameworks Apple ResearchKit and ResearchStack through an intuitive front-end application and secure storage environment that can support health research studies. The platform supports single or multisite studies via role-based access and can be implemented within highly secure data environments.

DLG4-related synaptopathy: a new rare brain disorder.

Purpose: Postsynaptic density protein-95 (PSD-95), encoded by DLG4, regulates excitatory synaptic function in the brain. Here we present the clinical and genetic features of 53 patients (42 previously unpublished) with DLG4 variants.

Methods: The clinical and genetic information were collected through GeneMatcher collaboration.

SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females.

Deletion 1p36 (del1p36) syndrome is the most common human disorder resulting from a terminal autosomal deletion. This condition is molecularly and clinically heterogeneous. Deletions involving two non-overlapping regions, known as the distal (telomeric) and proximal (centromeric) critical regions, are sufficient to cause the majority of the recurrent clinical features, although with different facial features and dysmorphisms.

In the Global Epicenter: Social Work Leadership in a New York City Hospital.

The Mount Sinai Hospital in New York City was in the epicenter of the COVID-19 pandemic and had to transform from a tertiary to crisis care hospital and increase its bed capacity by 50 percent to care for COVID-19 patients. The size, scope, complexity and uncertainty of this crisis was unparalleled. This article describes the comprehensive response of the Department of Social Work Services, one of the largest hospital social work departments in the country.

Bone-anchored hearing system, contralateral routing of signals hearing aid or cochlear implant: what is best in single-sided deafness?

Purpose: The aim of the study was to compare long-term results after 1 year in patients with single-sided deafness (SSD) who were fitted with different hearing aids. The participants tested contralateral routing of signals (CROS) hearing aids and bone-anchored hearing systems (BAHS). They were also informed about the possibility of a cochlear implant (CI) and chose one of the three devices.

First intention vertebroplasty in fractures within an ankylosed thoracolumbar spinal segment.

Purpose: To evaluate the outcome of percutaneous vertebral cementoplasty (PVC) as the first-line treatment for traumatic thoracolumbar fractures within an ankylosed spinal segment.

Materials And Methods: Thirty-one patients (15 men, 16 women; mean age: 79.2±11 [SD] years; age range: 66-95 years) with thoracolumbar fractures within an ankylosed spine segment without neurological impairment treated with PVC were retrospectively evaluated.

Cementation of Tooth-colored Restorations - A Survey among Dentists in Germany.

Purpose: To survey dentists in Germany regarding their preferred cementation regimen for fixed dental prostheses (FDPs) fabricated from various restorative materials. Materials and Methods: An online survey was developed for completion by dentists in Germany between 08/2019 and 02/2020. The questionnaire gathered information about the cementation regimen (conventional, including the acid-base cements zinc-oxide phosphate or any glass-ionomer cement; self-adhesive; adhesive; don’t know) that the participant would preferably select for the insertion of single- or multi-unit FDPs fabricated from various restorative materials.

The Impact of Binge Drinking on Mortality and Liver Disease in the Swiss HIV Cohort Study.

Whereas excessive alcohol consumption increases liver disease incidence and mortality, evidence on the risk associated with specific drinking patterns is emerging. We assessed the impact of binge drinking on mortality and liver disease in the Swiss HIV Cohort Study. All participants with follow-up between 2013 and 2020 were categorized into one of four drinking pattern groups: "abstinence", "non-hazardous drinking", "hazardous but not binge drinking" (Alcohol Use Disorder Identification Test Consumption [AUDIT-C] score ≥ 3 in women and ≥4 in men), and "binge drinking" (≥6 drinks/occasion more than monthly).

Systematic Review of Clinical Guidelines Related to Care of Individuals With Cerebral Palsy as Part of the World Health Organization Efforts to Develop a Global Package of Interventions for Rehabilitation.

Objective: The World Health Organization's (WHO) Rehabilitation 2030 initiative is working to develop a set of evidence-based interventions selected from clinical practice guidelines for Universal Health Coverage. As an initial step, the WHO Rehabilitation Programme and Cochrane Rehabilitation convened global content experts to conduct systematic reviews of clinical practice guidelines for 20 chronic health conditions, including cerebral palsy.

Data Sources: Six scientific databases (Pubmed, EMBASE, Scopus, Web of Science, PEDro, CINAHL), Google Scholar, guideline databases, and professional society websites were searched.

Systematic Review of Clinical Practice Guidelines for Individuals With Amputation: Identification of Best Evidence for Rehabilitation to Develop the WHO's Package of Interventions for Rehabilitation.

Objectives: To report the results of the systematic search performed to identify interventions and related evidence for rehabilitation of individuals with amputation based on the current evidence from clinical practice guidelines (CPG).

Data Sources: Pubmed, Pedro, CINAHL, Embase, Google Scholar, and multiple guideline databases (date restriction, 2008-2018).

Study Selection: Exclusion criteria were no CPG, not reporting on rehabilitation, published before 2008, developed for health conditions other than amputation, presence of conflict of interest (financial or nonfinancial), lack of information on the strength of the recommendation, and lack of quality assessed by the "Appraisal of Guidelines for Research and Evaluation.

Tooth-Colored CAD/CAM Materials for Application in 3-Unit Fixed Dental Prostheses in the Molar Area: An Illustrated Clinical Comparison.

The aim of this study was to compare the clinical properties of tooth-colored computer-aided design/computer-aided manufacturing (CAD/CAM) materials for the fabrication of a 3-unit fixed dental prostheses (FDPs) in the same clinical scenario. A 53-year-old female patient was supplied with a 3-unit FDP to replace a second premolar in the upper jaw. Restorations were fabricated from 3 mol%, 4 mol%, and 5 mol% yttrium oxide zirconia, zirconia with translucency gradient, indirect composite resin, polyetheretherketone (PEEK), and polyetherketoneketone (PEKK).

Relationship between Age-Dependent Body Constitution and Temporomandibular Joint Sounds in Adolescents.

To date, risk factors for temporomandibular joint (TMJ) sounds are still not completely understood, and anatomical factors are suspected to influence their occurrence. This study aimed to evaluate the impact of body constitution on temporomandibular joint sounds of adolescents. 10- to 18-year-old participants of the LIFE Child Study were examined for TMJ sounds, and physical parameters such as body height, body weight, and general laxity of joints were measured.

[Indirect resin composites - a new material option when restoring malformed teeth].

Objectives: An abnormal development of teeth can result in malformed teeth. Indirect resin composites that can be fabricated with the computer-aided design/computer-aided manufacturing (CAD/ CAM) technique are available for the fabrication of permanent restorations. This case report presents the esthetical and functional rehabilitation of a 10-year-old female patient with oligodontia and conical canines.

Prevalence of liver cirrhosis in individuals with hepatitis B virus infection in sub-Saharan Africa: Systematic review and meta-analysis.

Background & Aims: Chronic hepatitis B virus (HBV) infection accounts for 30%-50% of cirrhosis related deaths in sub-Saharan Africa (SSA). Since HBV-related cirrhosis is an indication for immediate antiviral therapy and cancer surveillance, we aimed to estimate the prevalence of cirrhosis among treatment-naïve patients with chronic HBV infection in SSA.

Methods: We performed a systematic review of published articles which evaluated liver fibrosis stage among treatment-naïve HBV-infected individuals who presented to care in SSA.

Systematic review of clinical practice guidelines for adults with fractures: identification of best evidence for rehabilitation to develop the WHO's Package of Interventions for Rehabilitation.

Background: The identification of existing rehabilitation interventions and related evidence represents a crucial step along the development of the World Health Organization's (WHO) Package of Interventions for Rehabilitation (PIR). The methods for such identification have been developed by the WHO Rehabilitation Programme and Cochrane Rehabilitation under the guidance of the WHO's Guideline Review Committee secretariat. The aim of this paper is to report on the results of the systematic search for clinical practice guidelines (CPGs) relevant to the rehabilitation of adults with fractures and to present the current state of evidence available from the identified CPGs.

Increased CHIP Prevalence Amongst People Living with HIV.

People living with human immunodeficiency virus (PLWH) have significantly increased risk for cardiovascular disease in part due to inflammation and immune dysregulation. Clonal hematopoiesis of indeterminate potential (CHIP), the age-related acquisition and expansion of hematopoietic stem cells due to leukemogenic driver mutations, increases risk for both hematologic malignancy and coronary artery disease (CAD). Since increased inflammation is hypothesized to be both a cause and consequence of CHIP, we hypothesized that PLWH have a greater prevalence of CHIP.

New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamics.

Purpose: A few de novo missense variants in the cytoplasmic FMRP-interacting protein 2 (CYFIP2) gene have recently been described as a novel cause of severe intellectual disability, seizures, and hypotonia in 18 individuals, with p.Arg87 substitutions in the majority.

Methods: We assembled data from 19 newly identified and all 18 previously published individuals with CYFIP2 variants.

HCV Genetic Diversity Can Be Used to Infer Infection Recency and Time since Infection.

HIV-1 genetic diversity can be used to infer time since infection (TSI) and infection recency. We adapted this approach for HCV and identified genomic regions with informative diversity. We included 72 HCV/HIV-1 coinfected participants of the Swiss HIV Cohort Study, for whom reliable estimates of infection date and viral sequences were available.

Host Genomics of the HIV-1 Reservoir Size and Its Decay Rate During Suppressive Antiretroviral Treatment.

Background: The primary hurdle for the eradication of HIV-1 is the establishment of a latent viral reservoir early after primary infection. Here, we investigated the potential influence of human genetic variation on the HIV-1 reservoir size and its decay rate during suppressive antiretroviral treatment.

Setting: Genome-wide association study and exome sequencing study to look for host genetic determinants of HIV-1 reservoir measurements in patients enrolled in the Swiss HIV Cohort Study, a nation-wide prospective observational study.