DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders.

BCL11B is a Cys2-His2 zinc-finger (C2H2-ZnF) domain-containing, DNA-binding, transcription factor with established roles in the development of various organs and tissues, primarily the immune and nervous systems. BCL11B germline variants have been associated with a variety of developmental syndromes. However, genotype-phenotype correlations along with pathophysiologic mechanisms of selected variants mostly remain elusive.

Interpretation and classification of FBN1 variants associated with Marfan syndrome: consensus recommendations from the Clinical Genome Resource's FBN1 variant curation expert panel.

Background: In 2015, the American College of Medical Genetics and Genomics (ACMG) and the Association for Molecular Pathology (AMP) developed standardized variant curation guidelines for Mendelian disorders. Although these guidelines have been widely adopted, they are not gene- or disease-specific. To mitigate classification discrepancies, the Clinical Genome Resource FBN1 variant curation expert panel (VCEP) was established in 2018 to develop adaptations to the ACMG/AMP criteria for FBN1 in association with Marfan syndrome.

Can the integration of new rules into a clinical decision support system reduce the incidence of acute kidney injury and hyperkalemia among hospitalized older adults: a protocol for a stepped-wedge, cluster-randomized trial (DETECT-IP).

Background: Clinical decision support systems (CDSSs) enable the automated, real-time detection of situations associated with a risk of adverse drug events (ADEs). However, the effectiveness of CDSS in reducing ADEs has yet to be demonstrated. We have chosen to focus on the detection of ADE such as hyperkalemia and/or acute kidney injury (AKI), which are common among hospitalized older adults.

In vivo biocompatibility assessment of 3D printed bioresorbable polymers for brain tissue regeneration. A feasibility study.

Introduction: The limited capacity of brain tissue to regenerate after acute injury, hampered by cell death, edema and inflammation, has led to an interest in promising and innovative approaches such as implantable regenerative scaffolds designed to improve brain plasticity. Leveraging the capabilities of bioprinting, these scaffolds can be tailored to match the intricate architecture of the brain.

Methods: In this methodological study, we performed in vivo biocompatibility assessments after a brain lesion on three distinct bioeliminable or bioresorbable materials: Poly(ethylene glycol) diacrylate (PEGDA), Polycaprolactone (PCL) and a PEGDA mixed with gelatin methacrylate (PEGDA-GelMA).

Translation of the REMEDI[e]S (Review of potentially inappropriate MEDIcation pr[e]scribing in Seniors) explicit criteria into seminatural language for use in prescription support systems: A multidisciplinary consensus.

Background: By recovering data in an ordered manner and at the right time, clinical decision support systems (CDSSs) are designed to help healthcare professionals make decisions that improve patient care.

Objectives: The aim of the present study was to translate the REMEDI[e]s tool's explicit criteria, France's first reference list of potentially inappropriate drugs for the elderly, into seminatural language, in order to implement these criteria as alert rules and then enable their computer coding in a CDSS.

Methods: This work was carried out at Lille University Hospital by a team of clinical pharmacists with expertise in the use of pharmaceutical decision support systems, in collaboration with the authors of the REMEDI[e]s tool.

[Use of a pharmaceutical decision support system in the valuation of hospital stays: Evaluation through 3 examples in collaboration with the department of medical information].

Pharmacy decision support systems (PDSS) help clinical pharmacists to prevent and detect adverse drug events. The coding of hospital stays by the department of medical information (DMI) requires expertise, as it determines hospital revenues and the epidemiological data transmitted via the French national hospital database. The aim was to study the interest and feasibility of using a PDSS, in collaboration with the DMI, to help with the coding of hospital stays.

A systematic review of the value of clinical decision support systems in the prescription of antidiabetic drugs.

Introduction: The management of chronic diabetes mellitus and its complications demands customized glycaemia control strategies. Polypharmacy is prevalent among people with diabetes and comorbidities, which increases the risk of adverse drug reactions. Clinical decision support systems (CDSSs) may constitute an innovative solution to these problems.

Correction: The Effect of an mHealth Self-Monitoring Intervention (MI-BP) on Blood Pressure Among Black Individuals With Uncontrolled Hypertension: Randomized Controlled Trial.

[This corrects the article DOI: 10.2196/57863.].

The Effect of an mHealth Self-Monitoring Intervention (MI-BP) on Blood Pressure Among Black Individuals With Uncontrolled Hypertension: Randomized Controlled Trial.

Background: Hypertension is one of the most important cardiovascular disease risk factors and affects >100 million American adults. Hypertension-related health inequities are abundant in Black communities as Black individuals are more likely to use the emergency department (ED) for chronic disease-related ambulatory care, which is strongly linked to lower blood pressure (BP) control, diminished awareness of hypertension, and adverse cardiovascular events. To reduce hypertension-related health disparities, we developed MI-BP, a culturally tailored multibehavior mobile health intervention that targeted behaviors of BP self-monitoring, physical activity, sodium intake, and medication adherence in Black individuals with uncontrolled hypertension recruited from ED and community-based settings.

Becoming a first-time father during the COVID-19 pandemic in France.

The role of fathers in Western societies has undergone significant change over time. However, their psychopathology remains largely misunderstood and difficult to identify. This study aims to explore the lived experiences of first-time fathers during the COVID-19 pandemic.

Real-time monitoring of replication errors' fate reveals the origin and dynamics of spontaneous mutations.

The efficiency of replication error repair is a critical factor governing the emergence of mutations. However, it has so far been impossible to study this efficiency at the level of individual cells and to investigate if it varies within isogenic cell populations. In addition, why some errors escape repair remains unknown.

A profile of two different applicant test batteries with regards to sex and age in successful law enforcement applicants.

Background: Law enforcement (LE) applicant assessments and initial academy training vary greatly across the United States of America (USA), with 820+ academies operating across 50 different states. Rising obesity and declining physical fitness underscore the need for benchmarks of applicant physical performance.

Objective: Create a "point-in-time" descriptive profile of the performance of LE applicants and determine any differences between males, females, and age using two applicant test batteries (ATBs).

SARS-CoV-2 Infection in Pemphigus Vulgaris Two Weeks after Rituximab Therapy with Total Recovery: A Case Report.

The mortality risk factors for Corona Virus Disease-19 (COVID-19) infection (caused by the severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2)) include advanced age, male sex, certain comorbidities, and immunosuppression (1). Pemphigus vulgaris is a rare mucocutaneous autoimmune disease with autoantibodies against desmosomal desmoglein-1 and desmoglein-3, resulting in acantholysis and blister formation. This epithelial barrier defect increases susceptibility to infections, which may lead to relapses (2).

The development of inherited cardiac conditions services: current position and future perspectives.

Background: Over the last two decades, inherited cardiac conditions (ICC) centres have emerged with the aim of improving outcomes for patients and their families, through early diagnosis, genetic testing, risk assessment and specialist treatment.

Sources Of Data: A literature search was performed using PubMed (https://pubmed.ncbi.

Plasma-based analysis of ERBB2 mutational status by multiplex digital PCR in a large series of patients with metastatic breast cancer.

Erb-b2 receptor tyrosine kinase 2 (ERBB2)-activating mutations are therapeutically actionable alterations found in various cancers, including metastatic breast cancer (MBC). We developed multiplex digital PCR assays to detect and quantify ERBB2 mutations in circulating tumor DNA from liquid biopsies. We studied the plasma from 272 patients with hormone-receptor-positive, human epidermal growth factor receptor 2-negative (HR+/HER2-) MBC to detect 17 ERBB2 mutations using a screening assay.

Best practice recommendations for medically assisted reproduction in patients with known cardiovascular disease or at high risk of cardiovascular disease.

Increasing numbers of people are seeking assisted conception. In people with known cardiac disease or risk factors for cardiac disease, assisted conception may carry increased risks during treatment and any subsequent pregnancy. These risks should be assessed, considered and minimized prior to treatment.

Systemic Sodium Thiosulfate as an Adjunct Treatment in Calcinosis: A Retrospective Study.

(1) Background: Calcinosis of the skin mainly appears in connective tissue disorders (dystrophic subtype). It may cause inflammation, ulceration, pain, and restricted joint mobility. Management is difficult; sodium thiosulfate is one potential therapeutic agent with promising data on intralesional and topical formulation for smaller calcified lesions.

A genome catalog of the early-life human skin microbiome.

Background: Metagenome-assembled genomes have greatly expanded the reference genomes for skin microbiome. However, the current reference genomes are largely based on samples from adults in North America and lack representation from infants and individuals from other continents.

Results: Here we use deep shotgun metagenomic sequencing to profile the skin microbiota of 215 infants at age 2-3 months and 12 months who are part of the VITALITY trial in Australia as well as 67 maternally matched samples.

Implementation of a clinical decision support system for the optimization of antidiabetic drug orders by pharmacists.

Aims: The objective of the study was to describe the impact of a clinical decision support system (CDSS) on antidiabetic drug management by clinical pharmacists for hospitalized patients with T2DM.

Methods: We performed a retrospective, single-centre study in a teaching hospital, where clinical pharmacists analysed prescriptions and issued pharmacist interventions (PIs) through a computerized physician order entry (CPOE) system. A CDSS was integrated into the pharmacists' workflow in July 2019.

A genome catalog of the early-life human skin microbiome.

Metagenome-assembled genomes have greatly expanded the reference genomes for skin microbiome. However, the current reference genomes are largely based on samples from adults in North America and lack representation from infants and individuals from other continents. Here we used ultra-deep shotgun metagenomic sequencing to profile the skin microbiota of 215 infants at age 2-3 months and 12 months who were part of the VITALITY trial in Australia as well as 67 maternally-matched samples.

[First French-speaking days of users of decision support system in clinical pharmacy: Feedback and perspectives].

Clinical decision support systems (CDSS) are tools that have been used for several years by clinical pharmacy teams to support pharmaceutical analysis, with a perspective of contributing to the quality of care in collaboration with the other health care team members. These tools require both technical, logistical and human resources. The growing use of these systems in different establishments in France and in Europe gave birth to the idea of meeting to share our experiences.

CD25high Effector Regulatory T Cells Hamper Responses to PD-1 Blockade in Triple-Negative Breast Cancer.

Unlabelled: Regulatory T cells (Treg) impede effective antitumor immunity. However, the role of Tregs in the clinical outcomes of patients with triple-negative breast cancer (TNBC) remains controversial. Here, we found that an immunosuppressive TNBC microenvironment is marked by an imbalance between effector αβCD8+ T cells and Tregs harboring hallmarks of highly suppressive effector Tregs (eTreg).