Exploring the Familial Phenotypic Variability Associated With TTN Truncating Variants in Cardiomyopathies: Variant Spectrum, Genotype-Phenotype Correlation and Consequences in Genetic Counseling.

Titin truncating variants (TTNtv) are the main genetic cause of dilated cardiomyopathies (DCMs). The phenotype and prognosis of probands have been evaluated in several large cohorts. However, few data are available on intrafamilial expressivity.

Induced Sputum: A Valuable Tool for Assessing Cellular and Microbiological Characteristics in Cystic Fibrosis Expectorating Teenagers.

Introduction: Cellular characteristics of induced sputum (IS) are not investigated in cystic fibrosis (CF) patients.

Objectives: This pilot study, conducted on 17 expectorating CF adolescents, compared sputa obtained the same day, in a stable period, by autogenic drainage (expectorating sputum, ES) and 4 h later after inhaling hypertonic saline (IS).

Results: No difference was noted concerning weight, volume, and percentage of dead cells between the two collection methods.

Brain penetration of peripheral extracellular vesicles from Alzheimer's patients and induction of microglia activation.

Alzheimer's disease (AD) is an age-related neurodegenerative pathology. Brain-derived extracellular vesicles (EVs) have been demonstrated to be implicated in AD pathogenesis by facilitating the propagation of Tau, amyloid-β and inflammatory cytokines. However, the impact of peripheral EVs (pEVs) in AD pathogenesis remains poorly investigated.

Pharmacological Enhancement of Adult Hippocampal Neurogenesis Improves Behavioral Pattern Separation in Young and Aged Male Mice.

Background: Impairments in behavioral pattern separation (BPS)-the ability to distinguish between similar contexts or experiences-contribute to memory interference and overgeneralization seen in many neuropsychiatric conditions, including depression, anxiety, posttraumatic stress disorder, dementia, and age-related cognitive decline. Although BPS relies on the dentate gyrus and is sensitive to changes in adult hippocampal neurogenesis, its significance as a pharmacological target has not been tested.

Methods: In this study, we applied a human neural stem cell high-throughput screening cascade to identify compounds that increase human neurogenesis.

Attentes des internes de médecine générale envers leur stage d'observation en pharmacie d'officine.

Objectives: The aim of this study was to collect the expectations of trainees in general practice towards their observation period in a community pharmacy, in order to contribute to a new definition of the objectives of this training period.

Methods: Data were collected using the nominal group technique. The eleven participants were ninth-year general medical students.

Identifying the Optimal Sampling Strategy for the Bayesian Estimation of Vancomycin AUC in Adult Hematologic Cancer Patients.

Background And Objective: The latest consensus recommends using the ratio between the area under the curve over 24 h (AUC) and minimal inhibitory concentration (MIC) as the therapeutic target for vancomycin in clinical practice, with a Bayesian approach and population pharmacokinetic (popPK) model being particularly recommended. While using both post-dose peak concentration (C) and pre-dose concentration (C) is more accurate than C alone, the optimal sampling strategy for estimating AUC is still unclear. The objective of this study was to determine the best sampling time(s) to estimate AUC using the Bayesian approach in these specific adult hematologic cancer patients.

[Initial training of nurses in nephrology care: a literature review].

Chronic kidney disease is a worldwide public health problem. Nephrology nursing is an effective intervention in the management of this disease. However, nurses can only develop the skills related to this care after receiving specialized initial education.

Body mass index trajectories from birth to adolescence and associated factors in the PARIS cohort.

Aim: Development of body mass index (BMI) trajectories is essential for understanding childhood overweight, a public health concern. This study aimed to identify BMI trajectories from birth to adolescence and examine associated factors in the Pollution and Asthma Risk: an Infant Study (PARIS) birth cohort.

Methods: Data on height, weight, birth parameters, lifestyle, parental weight status and stress were collected via questionnaires and health check-ups.

[Impact of dronabinol shortage on a population of chronic pain patients: A retrospective observational study].

Objective: A supply shortage of dronabinol occurred between December 2023 and February 2024, forcing chronic pain patients to discontinue this treatment. We assessed the impact of this shortage on patients in our hospital.

Method: A retrospective observational study of patients treated with dronabinol was conducted.

Gender differences in the association between adherence to healthy diet principles and adherence to cardiopreventive medication among adults from Québec (Canada).

Adherence to healthy diet principles and to cardiopreventive medication, both key behaviors in cardiovascular disease (CVD) prevention, is known to differ between women and men. Whether these adherence behaviors are differentially related among women and men has never been thoroughly assessed. The objective was to assess gender differences in the association between adherence to healthy diet principles and to cardiopreventive medication in adults free of CVD.

sp. nov., a novel endophytic bacterium with plant growth-promoting potential, isolated from root nodules of in Northwestern Algeria.

A thorough polyphasic taxonomic study, integrating genome-based taxonomic approaches, was carried out to characterize the RB5 strain isolated from root nodules of growing on the coastal dunes of Bousfer Beach (Oran, Algeria). The 16S rRNA gene sequence analysis revealed that strain RB5 had the highest similarity to LMG27940 (98.94%) and IzPS32d (98.

A phase II double-blind multicentre, placebo-controlled trial to assess the efficacy and safety of alpelisib (BYL719) in paediatric and adult patients with Megalencephaly-CApillary malformation Polymicrogyria syndrome (MCAP): the SESAM study protocol.

Introduction: The megalencephaly capillary malformation polymicrogyria (MCAP syndrome) results from mosaic gain-of-function variants. The main clinical features are macrocephaly, somatic overgrowth, neurodevelopmental delay and brain anomalies. Alpelisib (Vijoice) is a recently FDA-approved PI3Kα-specific inhibitor for patients with PIK3CA-related overgrowth spectrum (PROS).

Melatonin Low-Dose for Prevention of Delirium in Critically Ill Patients: A Multi-centre, Randomized, Placebo-controlled Feasibility Trial (MELLOW).

Background: Delirium is a common and serious syndrome of acute brain dysfunction associated with negative outcomes. Melatonin may have a role in delirium prevention for critically ill adults based on data from non-critically ill patient populations. Our objective was to assess the feasibility of a multi-centre, randomized, placebo-controlled trial testing the hypothesis that low-dose melatonin prevents delirium in critically ill adults.

[The challenges of new digital technologies on the Moroccan health system : Case of the cardiology departement -B- University Hospital Center Ibn Sina Rabat].

Introduction: We live in the era of information technology (IT) innovations in the health sector, this has led to the appropriation of new organizational models which are profoundly changing the practice of medicine. Our study aims to determine the challenges of new digital technologies in the Moroccan health system, the case of the cardiology department - B - of the Ibn Sina University Hospital Center.

Materials And Methods: This is a single-center observational descriptive-analytical study carried out at the level of the cardiology department - B- for 6 months, from September 1, 2022.

How to facilitate the wider use of pharmacogenetic tests?

4P medicine (personalized, preventive, predictive, and participatory) is experiencing a remarkable rise, and pharmacogenetics is an essential part of it. However, several obstacles are hindering its deployment. This round table brought together a group of experts to take stock of the situation, reflecting on ways to facilitate the prescription of these tests and the dissemination of the results on a national scale.

Sugar-sweetened or artificially sweetened beverage consumption, physical activity and risk of type 2 diabetes in US adults.

Aims/hypothesis: A positive association between sugar-sweetened beverages (SSBs) and diabetes risk has been shown, with inconsistent evidence between artificially sweetened beverages (ASBs) and diabetes. Moreover, it is uncertain if physical activity can mitigate the negative effects of these beverages on diabetes development. Therefore, we aimed to evaluate the independent and joint associations between SSB or ASB consumption and physical activity on the risk of type 2 diabetes.

Hypereosinophilia and Hypereosinophilic Syndromes: First Findings From a Nationwide Multicenter Cohort.

Background: Hypereosinophilic syndromes (HES) are a heterogenous group of eosinophilic disorders. To date, only retrospective studies of limited sample-size and/or follow-up duration are available.

Methods: The COHESion study is a national prospective multicenter multidisciplinary cohort recruiting both adults or children with the spectrum of eosinophilic disorders (including reactive HE/HES [HE/HES-R], idiopathic HES [HES-I], lymphocytic HES [HES-L], neoplastic HE/HES [HE/HES-N], HE of unknown significance [HE-US], as well as IgG4-related disease [IgG4RD] or ANCA-negative eosinophilic granulomatosis with polyangiitis [EGPA] overlaps).

Let's "game" it!: Dangerous games, a new health challenge.

In the past several years, children and adolescents have increasingly been enticed into playing dangerous and challenging games, particularly through social networks. Epidemiological data regarding this phenomenon are particularly difficult to come by, as is information regarding the somatic and psychological consequences of these activities, which can end up having fatal outcomes. We here report the case of a suspicion of child abuse that turned out to be due to participation in a challenge game known as "The Deodorant Challenge" by a 10-year-old child who presented with burn-like lesions.

Interest and limits of using pharmacogenetics in MDMA-related fatalities: A case report.

Interpreting postmortem concentrations of 3,4-Methylenedioxymethamphetamine (MDMA) remains challenging due to the wide range of reported results and the potential idiosyncratic nature of MDMA toxicity. Consequently, forensic pathologists often rely on a body of evidence to establish conclusions regarding the cause and the manner of death in death involving MDMA. Given these issues, implementing pharmacogenetics' (PGx)' testing may be beneficial.

Impact of vitamin C on the reduction of opioid consumption for acute musculoskeletal pain: A double-blind randomized control pilot study.

Introduction: Recent evidence has shown that vitamin C has analgesic and opioid sparing properties in immediate postoperative context. However, this has never been studied for acute musculoskeletal (MSK) emergency department (ED) injuries. The aim of this pilot study is to evaluate the feasibility of conducting a randomized placebo-controlled study to determine the opioid sparing and analgesic effect of vitamin C compared to placebo, in acute MSK injured ED patients.

Real-time monitoring by interferometric light microscopy of phage suspensions for personalised phage therapy.

Phage therapy uses viruses (phages) against antibiotic resistance. Tailoring treatments to specific patient strains requires stocks of various highly concentrated purified phages. It, therefore, faces challenges: titration duration and specificity to a phage/bacteria couple; purification affecting stability; and highly concentrated suspensions tending to aggregate.

Long-Term Clinical and Biological Prognostic Factors of Anti-NMDA Receptor Encephalitis in Children.

Background And Objectives: Anti-NMDAR encephalitis (NMDARE) is a severe neurologic condition, and recently, the NMDAR Encephalitis One-Year Functional Status (NEOS) score has emerged as a 1-year prognostic tool. This study aimed to evaluate NEOS score and biomarker (neurofilament light chains [NfL], total-Tau protein, glial fibrillary acidic protein, and serum cytokines) correlation with modified Rankin Scale (mRS), cognitive impairment, and clinical recovery in pediatric NMDARE over 2 years.

Methods: In this French multicenter observational study, 104 pediatric patients with NMDARE were followed for a minimum of 2 years.