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.

Excellent capability for molecular detection of -borne dengue, Zika, and chikungunya viruses but with a need for increased capacity for yellow fever and Japanese encephalitis viruses: an external quality assessment in 36 European laboratories.

Mosquito-borne viruses represent a large global health burden. With geographic expansion of competent vectors for chikungunya virus (CHIKV), dengue virus (DENV), and Zika virus (ZIKV) in Europe, it is anticipated that the number of autochthonous cases of these tropical viruses in Europe will increase. Therefore, regular assessment of diagnostic capabilities in Europe is important.

Fetal death: Expert consensus of the French College of Obstetricians and Gynecologists.

Fetal death is defined as the spontaneous cessation of cardiac activity after 14 weeks gestational age (GA). Regarding prevention of fetal death in the general population, it is not recommended to counsel or prescribe rest, aspirin, vitamin A, vitamin D, or micronutrient supplementation; systematically look for nuchal cord during prenatal screening ultrasound; or perform systematic antepartum monitoring by cardiotocography for the sole purpose of reducing the risk of fetal death. It is recommended to offer vaccination against influenza in epidemic periods and against SARS-CoV-2.

The renin-angiotensin-aldosterone-system in sepsis and its clinical modulation with exogenous angiotensin II.

Dysregulation of the renin-angiotensin-aldosterone-system (RAAS) in sepsis is a complex and early phenomenon with a likely significant contribution to organ failure and patient outcomes. A better understanding of the pathophysiology and intricacies of the RAAS in septic shock has led to the use of exogenous angiotensin II as a new therapeutic agent. In this review, we report a multinational and multi-disciplinary expert panel discussion on the role and implications of RAAS modulation in sepsis and the use of exogenous angiotensin II.

Sepsis: key insights, future directions, and immediate goals. A review and expert opinion.

This review explores the current landscape and evolving understanding of sepsis, highlighting both challenges and future directions. Sepsis remains a major global health burden, with diverse clinical presentations complicating timely diagnosis and management. Existing definitions, including the Sepsis-3 criteria, emphasize the importance of organ dysfunction, yet early sepsis detection remains limited by available tools.

Prognostic Impact of Neutropenia Recovery and G-CSF Use in Onco-Hematological Neutropenic Patients Admitted to Intensive Care Unit for Acute Respiratory Failure: A Retrospective, Real World Analysis.

Introduction: The effect of neutropenia and the use of granulocyte colony-stimulating factor (G-CSF) in critically ill patients with cancer are controversial, notably in those with lung injury. Neutropenia recovery can be associated with an acute respiratory failure (ARF) requiring intensive care unit (ICU) admission, especially when G-CSF is administered.

Methods: In a single-center retrospective study, we evaluated (1) the effect of neutropenia recovery on the 90-day mortality and (2) the impact of G-CSF use on the outcome of patients with cancer and neutropenia with ARF admitted to the ICU.

Impact of COVID-19 infection on lung function and nutritional status amongst individuals with cystic fibrosis: A global cohort study.

Background: Factors associated with severe COVID-19 infection have been identified; however, the impact of infection on longer-term outcomes is unclear. The objective of this study was to examine the impact of COVID-19 infection on the trajectory of lung function and nutritional status in people with cystic fibrosis (pwCF).

Methods: This is a retrospective global cohort study of pwCF who had confirmed COVID-19 infection diagnosed between January 1, 2020 and December 31, 2021.

Early point-of-care echocardiography as a predictive factor for absence of return of spontaneous circulatory in out-of-hospital cardiac arrests: A multicentre observational study.

Introduction: Early assessment of the prognosis of a patient in cardiac arrest during cardiopulmonary resuscitation is highly challenging. This study aims to evaluate the predictive outcome value of early point-of-care ultrasound (POCUS) in out-of-hospital settings.

Methods: This observational, prospective, multicentre study's primary endpoint was the positive predictive value (PPV) of POCUS cardiac standstill within the first 12 min of advanced life support (ALS) initiation in determining the absence of return of spontaneous circulation (ROSC).

[Fetal death: Expert consensus from the College of French Gynecologists and Obstetricians].

Fetal death is defined as the spontaneous cessation of cardiac activity after fourteen weeks of amenorrhea. In France, the prevalence of fetal death after 22 weeks is between 3.2 and 4.

Epidemiology of civilian's gunshot wound injuries admitted to intensive care unit: A retrospective, multi-center study.

Background: Few studies investigated the outcome of patients admitted to intensive care unit (ICU) for gunshot wounds (GSW). The purpose of this study was to determine the 28-day mortality, and to analyze the impact of variables on the mortality of patients admitted to ICU with GSW in four French University Hospitals level-1 regional trauma centers.

Method: All medical files of adult patients (above fifteen years old) admitted to four French University Hospitals level-1 regional trauma centers for GSW were retrospectively analyzed from January 1st 2015 to June 30th 2021.

Investigating transmission patterns among preterm neonates during an outbreak of necrotizing enterocolitis related to Clostridium butyricum using whole-genome sequencing.

Background: Necrotizing enterocolitis is the most severe life-threatening acquired gastrointestinal disorder among preterm neonates. We describe here an outbreak of Clostridium butyricum-related necrotizing enterocolitis in preterm neonates that occurred in three different neonatal centres, in southeast France.

Methods: We defined a confirmed case of C.

Empirical antifungal therapy for health care-associated intra-abdominal infection: a retrospective, multicentre and comparative study.

Background: Current guidelines recommend using antifungals for selected patients with health care-associated intra-abdominal infection (HC-IAI), but this recommendation is based on a weak evidence. This study aimed to assess the association between early empirical use of antifungals and outcomes in intensive care unit (ICU) adult patients requiring re-intervention after abdominal surgery.

Methods: A retrospective, multicentre cohort study with overlap propensity score weighting was conducted in three ICUs located in three medical institutions in France.

Current status of pathogen handling in European laboratories: focus on viral inactivation process.

For handling safely infectious agents, European laboratories must comply with specific EC Directives, national regulations and recommendations from the World Health Organization (WHO). To prevent laboratory acquired infections (LAIs) and pathogens dissemination, a key biosafety rule requires that any infectious material (clinical specimens or research samples) manipulated outside a biosafety cabinet (BSC) must be inactivated unless the lack of infectivity is proven. This inactivation process is a crucial step for biosafety and must be guided by a rigorous experimental qualification and validation procedure.

Cancer and sepsis: future challenges for long-term outcome.

Purpose Of Review: The purpose of this review is to investigate the long-term outcomes of cancer patients who experience sepsis or septic shock.

Recent Findings: Sepsis is a frequent cause of ICU admission in cancer patients, accounting for approximately 15% of such cases. Short-term mortality rates among these patients vary widely across studies, but they are consistently found to be slightly higher than those of noncancer patients.

Norepinephrine dosing in France: Time to move forward!

Norepinephrine is the first-line vasopressor used in acute cardio-circulatory failure. At the bedside, its dose is critical as it serves to determine the severity of patients, to compare the patients between different studies, and to start specific interventions. Recently, several investigators underlined differences in the expression of norepinephrine doses according to countries and manufacturers.

Association of Standardized Parenteral Nutrition with Early Neonatal Growth of Moderately Preterm Infants: A Population-Based Cohort Study.

In preterm infants, early nutrient intake during the first week of life often depends on parenteral nutrition. This study aimed to evaluate the influence of standardized parenteral nutrition using three-in-one double-chamber solutions (3-in-1 STD-PN) on early neonatal growth in a cohort of moderately preterm (MP) infants. This population-based, observational cohort study included preterm infants admitted to neonatal centers in the southeast regional perinatal network in France.