Circulatory response to exercise relative to oxygen uptake assessed in the follow-up of patients with fatty acid beta-oxidation disorders.

Patients with fatty acid oxidation disorders (FAODs) experience muscle symptoms due to impaired ATP metabolism and the toxicity of accumulated mitochondrial FAO substrates or intermediates, especially during catabolic states. A major issue is the absence of specific and sensible biomarkers to evaluate metabolic equilibrium. The relationship between cardiac output (Q) and oxygen consumption (VO) during incremental exercise (dQ/dVO) provides an indirect surrogate of mitochondrial function.

A cluster of putative resistance genes is associated with a dominant resistance to sunflower broomrape.

The HaOr5 resistance gene is located in a large genomic insertion containing putative resistance genes and provides resistance to O. cumana, preventing successful connection to the sunflower root vascular system. Orobanche cumana (sunflower broomrape) is a parasitic plant that is part of the Orobanchaceae family and specifically infests sunflower crops.

Increased aortic pressures and pulsatile afterload components promote concentric left ventricular remodeling in adults with transposition of the great arteries and arterial switch operation.

Background: Functional abnormalities of the ascending aorta (AA) have been mainly reported in young patients who underwent arterial switch operation (ASO) for transposition of the great arteries (TGA).

Objectives: To compare systolic, diastolic brachial and central blood pressures (bSBP, bDBP, cSBP, cDBP), aortic biomechanical parameters, and left ventricular (LV) afterload criteria in adult ASO patients with healthy controls and to assess their relationships with LV remodeling and aortic size.

Materials And Methods: Forty-one prospectively enrolled patients (16.

New description of an MRPS2 homozygous patient: Further features to help expend the phenotype.

Mutated mito-ribosomal protein S2 (MRPS2) was already described in only three subjects, two with sensorineural hearing impairment, mild developmental delay, hypoglycemia, lactic acidemia and combined oxidative phosphorylation system deficiency and another, recently, presenting with a less severe phenotype. In order to expand the phenotype, we describe a new MRPS2 homozygous subject who shows particular features which have not yet been reported: initial microcephaly, joint hypermobility and autistic features.

Acquired cardiovascular disease in adults with congenital heart disease.

Rates of successful surgical repair and life expectancy for patients with congenital heart disease have increased dramatically in recent decades. Thanks to advances in diagnosis, treatment, and follow-up care, an ever-increasing number of individuals with congenital heart disease are reaching advanced age. The exposure to cardiovascular risk factors during their lifetime is modifying the outlook and late clinical trajectory of adult congenital heart disease (ACHD).

State-of-the-art and challenges in the analysis of renewable gases.

The development of renewable and low-carbon gases for injection into the gas grid obtained by different processes such as anaerobic digestion, pyrogasification, hydrothermal gasification, and methanation, followed by upgrading steps, increases the demand for analysis and characterization in order to fully manage their integration into the gas value chain. If the analysis of the main compounds (methane, carbon dioxide, hydrogen, and carbon monoxide) is well described, the analysis of impurities in renewable gases remains more challenging due to their various natures and quantities. After a brief description of renewable and low-carbon methane production processes, the review focuses on the methods used for the analysis of the different compounds in renewable gases, from the main ones to impurities at ppb levels.

Rightward imbalanced pulmonary perfusion predicts better exercise stroke volume in children after Fallot repair.

Background: Residual lesions following Fallot repair are primarily pulmonary regurgitation and right ventricular outflow tract obstruction. These lesions may impact exercise tolerance, particularly because of a poor increase in left ventricular stroke volume. Pulmonary perfusion imbalance is also common, but its effect on cardiac adaptation to exercise is not known.

C-RCPred: a multi-objective algorithm for interactive secondary structure prediction of RNA complexes integrating user knowledge and SHAPE data.

RNAs can interact with other molecules in their environment, such as ions, proteins or other RNAs, to form complexes with important biological roles. The prediction of the structure of these complexes is therefore an important issue and a difficult task. We are interested in RNA complexes composed of several (more than two) interacting RNAs.

Systematic Electrophysiological Study Prior to Pulmonary Valve Replacement in Tetralogy of Fallot: A Prospective Multicenter Study.

Background: Ventricular arrhythmias and sudden death are recognized complications in tetralogy of Fallot. Electrophysiological studies (EPS) before pulmonary valve replacement (PVR), the most common reintervention in tetralogy of Fallot, could potentially inform therapy to improve arrhythmic outcomes.

Methods: A prospective multicenter study was conducted to systematically assess EPS with programmed ventricular stimulation in patients with tetralogy of Fallot referred for PVR from January 2020 to December 2021.

Hydroxychloroquine sulfate: A novel treatment for lipin-1 deficiency?

Background: Lipin-1 deficiency is a life-threatening disease that causes severe rhabdomyolysis (RM) and chronic symptoms associated with oxidative stress. In the absence of treatment, Hydroxychloroquine sulfate (HCQ) was administered to patients off label use on a compassionate basis in order to improve their physical conditions.

Methods: Eleven patients with LPIN1 mutations were treated with HCQ.

4D flow magnetic resonance imaging to assess right ventricular outflow tract in patients undergoing transcatheter pulmonary valve replacement.

Introduction And Objectives: Magnetic resonance imaging (MRI) including 4D flow is used before percutaneous pulmonary valve implantation (PPVI). As PPVI is limited by the size of the right ventricular outflow tract (RVOT), accurate sizing is needed to plan the intervention. The aim of this study was to compare different MRI modalities and invasive angiography to balloon sizing of RVOT.

Wild species: A reservoir of resistance genes for sustainable pyramidal resistance to broomrape in sunflower.

Wall., sunflower broomrape, is one of the major pests for the sunflower crop. Breeding for resistant varieties in sunflower has been the most efficient method to control this parasitic weed.

Retrospective Survival Analysis of Cats with Feline Infectious Peritonitis Treated with Polyprenyl Immunostimulant That Survived over 365 Days.

Feline infectious peritonitis (FIP) remains a major diagnostic and treatment challenge in feline medicine. An ineffective immune response is an important component of FIP pathophysiology; hence treatment with an immune stimulant such as Polyprenyl Immunostimulant™ (PI), which enhances cell-mediated immunity by upregulating the innate immune response via Toll-like receptors, is a rational approach. Records of cats with FIP treated with PI orally for over 365 days were retrospectively studied.

Multigenerational Exposure to Uranium Changes Sperm Metabolome in Rats.

Male infertility is a major public health issue that can be induced by a host of lifestyle risk factors such as environment, nutrition, smoking, stress, and endocrine disruptors. Regarding the human population exposed to uranium, it is necessary to explore these effects on male reproduction in multigenerational studies. The sensitivity of mass spectrometry (MS)-based methods has already proved to be extremely useful in metabolite identification in rats exposed to low doses of uranium, but also in human sperm.

Oral Phenotype of Singleton-Merten Syndrome: A Systematic Review Illustrated With a Case Report.

Singleton-Merten syndrome type 1 (SGMRT1) is a rare autosomal dominant disorder caused by variations with blood vessel calcifications, teeth anomalies, and bone defects. We aimed to summarize the oral findings in SGMRT1 through a systematic review of the literature and to describe the phenotype of a 10-year-old patient with SGMRT1 diagnosis. A total of 20 patients were described in the literature, in nine articles.

Incidence, Risk Factors, and Outcomes of Atrial Arrhythmias in Adult Patients With Atrioventricular Septal Defect.

Objectives: This study aimed to assess the incidence, associated factors, and outcomes of atrial arrhythmias in adults with atrioventricular septal defect (AVSD).

Background: Data regarding atrial arrhythmias in adults with AVSD are particularly scarce.

Methods: Data were analyzed from a multicentric cohort of adult patients with AVSD.

Autosomal Recessive Cerebellar Atrophy and Spastic Ataxia in Patients With Pathogenic Biallelic Variants in .

The hereditary ataxias are a heterogenous group of disorders with an increasing number of causative genes being described. Due to the clinical and genetic heterogeneity seen in these conditions, the majority of such individuals endure a diagnostic odyssey or remain undiagnosed. Defining the molecular etiology can bring insights into the responsible molecular pathways and eventually the identification of therapeutic targets.

FDX2 and ISCU Gene Variations Lead to Rhabdomyolysis With Distinct Severity and Iron Regulation.

Background And Objectives: To determine common clinical and biological traits in 2 individuals with variants in and , displaying severe and recurrent rhabdomyolyses and lactic acidosis.

Methods: We performed a clinical characterization of 2 distinct individuals with biallelic or variants from 2 separate families and a biological characterization with muscle and cells from those patients.

Results: The individual with variants was clinically more affected than the individual with variants.

Cardiovascular events in perimembranous ventricular septal defect with left ventricular volume overload: a French prospective cohort study (FRANCISCO).

Unlabelled: The long-term prospective multi-centre nationwide (French) observational study FRANCISCO will provide new information on perimembranous ventricular septal defect with left ventricular overload but no pulmonary hypertension in children older than 1 year. Outcomes will be compared according to treatment strategy (watchful waiting, surgical closure, or percutaneous closure) and anatomic features of the defect. The results are expected to provide additional guidance about the optimal treatment of this specific population, which is unclear at present.

Effect of medical treatment on heart failure incidence in patients with a systemic right ventricle.

Background: To date, clinical trials have been underpowered to demonstrate a benefit from ACE inhibitors (ACEis) or angiotensin II receptor blockers (ARBs) in preventing systemic right ventricle (sRV) failure and disease progression in patients with transposition of the great arteries (TGA). This observational study aimed to estimate the effect of ACEi and ARB on heart failure (HF) incidence and mortality in a large population of patients with an sRV.

Methods: Data on all patients with an sRV under active follow-up at two tertiary centres between January 2007 and September 2018 were studied.