Comprehensive exploration of unexplained dyspnoea in subjects with normal ejection fraction and low natriuretic peptides.

Background: Unexplained exertional dyspnoea without significant elevation of natriuretic peptides is common. One of the causes might be early heart failure with preserved ejection fraction (HFpEF).

Aims: This study aimed to characterize patients with exertional dyspnoea and normal/near-to-normal N-terminal pro-brain natriuretic peptide (NT-proBNP) levels with regard to early stages of HFpEF and non-cardiac causes.

Postneonatal Cerebral Palsy in Europe: Prevalence and Clinical Characteristics According to Contributory Events: An SCPE Study.

Background: Postneonatal cerebral palsy (PNCP) is rare and requires large databases to be studied over time.

Objectives: To study the time trend of prevalence of PNCP overall and by cause, and to describe the clinical characteristics of children with PNCP according to cause and compared with children with pre/peri/neonatal CP (PPNCP).

Methods: The Surveillance of Cerebral Palsy in Europe (SCPE) database was used.

Body composition is associated with changes in health-related quality of life in patients with knee and/or hip osteoarthritis.

Objective: The objective of this study was to analyse the association between body composition and changes in health-related quality of life (HRQoL) of patients followed for hip and knee osteoarthritis (OA).

Methods: Longitudinal data from the Knee and Hip OsteoArthritis Long-term Assessments (KHOALA) cohort, a multicentre cohort of 878 patients with symptomatic knee and/or hip OA, were used. The main outcome criteria were changes in patient-reported outcomes measures, the Study Short Form-36 (physical functioning, pain, mental health and vitality) and the OsteoArthritis Knee and Hip Quality Of Life (OAKHQOL)(physical activity, pain and mental health).

What are the potential mechanisms of fatigue-induced skeletal muscle hypertrophy with low-load resistance exercise training?

High-load resistance exercise (>60% of 1-repetition maximum) is a well-known stimulus to enhance skeletal muscle hypertrophy with chronic training. However, studies have intriguingly shown that low-load resistance exercise training (RET) (≤60% of 1-repetition maximum) can lead to similar increases in skeletal muscle hypertrophy as compared to high-load RET. This has raised questions about the underlying mechanisms for eliciting the hypertrophic response with low-load RET.

Status of surface electromyography assessment as part of clinical gait analysis in the management of patients with cerebral palsy - Outcomes of a Delphi process.

Background: The assessment of gait disorders in patients with neuromotor conditions, such as cerebral palsy (CP), has been a focus of clinical and research attention, with electromyography (EMG) offering a nuanced understanding of neurological and neuromuscular disorders. However, the interpretation of EMG data in the context of gait analysis remains challenging due to the complexity of neuromotor dynamics and variability in assessment methodologies.

Research Question: To which consensus can we get in a group of experts in the fields of neurological and neuromuscular disorders, biomechanics, and clinical gait analysis to establish standardized protocols and a common language for the measurement and analysis of EMG data in gait disorders, particularly in people living with CP?

Methods: A three-round Delphi process was conducted from February to September 2023 to gather opinions of 53 experts on the use of surface EMG data during gait in the context of CP.

A diazirine's central carbon is sp-hybridized, facilitating conjugation to dye molecules.

Diazirines are versatile carbene precursors that are extensively used in biological target identification experiments. However, their photo-activation wavelength ( 365 nm) precludes their use in living organisms. Here we show that a reconceptualization of the diazirine hybridization state leads to conjugation of the diazirine motif to longer-wavelength chromophores.

Revisited guidelines for metabolic tolerance tests in mice.

Preclinical mouse models are extensively used in biomedical research to gain insight into disease mechanisms and to test new drug treatments. Glucose and insulin tolerance tests are simple experimental tests frequently used worldwide to assess glucose metabolism in mice. Various guidelines and methodological considerations have been published to help researchers standardize procedures and optimize research outcomes.

Long-term effects of sirolimus treatment for slow-flow vascular malformations: Real-world evidence from the French observational multicentre SIROLO study.

Rationale: Sirolimus is a treatment for slow-flow vascular malformations (SFVMs). However, the long-term management remains challenging.

Objectives: The SIROLO study assessed the long-term effects and real-life management of oral sirolimus for SFVMs by investigating data from 15 French tertiary centres for vascular anomalies.

Use of Prenatal Exome Sequencing: Opinion Statement of the French Federation of Human Genetics Working Group.

Objective: Prenatal whole exome sequencing (pES) is increasingly prescribed for fetuses with ultrasound anomalies. Starting from the local French prenatal medicine practice, healthcare system and legal landscape, we aimed to address the broad medical and ethical issues raised by the use of pES for women and couples as well as for prenatal care providers.

Method: The French Federation of Human Genetics established a working group composed of clinicians and biologists from all over France to discuss pES challenges.

The impact of new onset diabetes on cardiovascular risks in orthotopic liver transplant recipients: findings from the COLT study.

Background: Orthotopic liver transplantation (OLT) has greatly improved short-term survival for end-stage liver disease. However, cardiovascular events (CVE) still pose a significant threat to long-term post-transplant health. Aim of this study is to assess the occurrence of long-term cardiovascular events and whether it relates to new-onset diabetes after liver transplantation (NODALT).

Impact of caring for patients with polyhandicap on institutional health care workers' quality of life: a cross-sectional and longitudinal evaluation.

Background: Profound intellectual multiple disabilities or polyhandicap (PLH) is defined as a combination of profound mental retardation and serious motor deficits resulting in extreme dependence. Support for these patients is multidisciplinary, complex, and time-consuming. Thus, institutional health care workers (HCWs) face specific working conditions: frequent physical tasks, distressed families, and restricted feedback.

Autoinflammation in patients with leukocytic CBL loss of heterozygosity is caused by constitutive ERK-mediated monocyte activation.

Patients heterozygous for germline CBL loss-of-function (LOF) variants can develop myeloid malignancy, autoinflammation, or both, if some or all of their leukocytes become homozygous for these variants through somatic loss of heterozygosity (LOH) via uniparental isodisomy. We observed an upregulation of the inflammatory gene expression signature in whole blood from these patients, mimicking monogenic inborn errors underlying autoinflammation. Remarkably, these patients had constitutively activated monocytes that secreted 10 to 100 times more inflammatory cytokines than those of healthy individuals and CBL LOF heterozygotes without LOH.

Do gifted children without specific learning disabilities read more efficiently than typically developing children?

Introduction: There are no published data on the written language skills of gifted children (GC). The objective of the present study was to evaluate reading abilities of GC vs. normative data from typically developing French children (TDC).

Bedside right ventricle quantification using three-dimensional echocardiography in children with congenital heart disease: A comparative study with cardiac magnetic resonance imaging.

Background: Accurate quantification of right ventricular (RV) volumes and function is crucial for the management of congenital heart diseases.

Aims: We aimed to assess the feasibility and accuracy of bedside analysis using new RV quantification software from three-dimensional transthoracic echocardiography in children with or without congenital heart disease, and to compare measurements with cardiac magnetic resonance imaging.

Methods: We included paediatric patients with congenital heart disease (106 patients) responsible for RV volume overload and a control group (30 patients).