Change in sleep quality Induced by adaptive servo-ventilation for central sleep apnea: 6-month follow-up of the multicenter nationwide French FACIL-VAA cohort.

Background: A large number of symptomatic individuals with central sleep apnea (CSA) in clinical practice have an indication for adaptive servo-ventilation (ASV) therapy.

Research Question: What are the effects of ASV therapy on sleep quality and PROMs in patients with CSA across a range of devices and indications.

Methods: This prospective, multicenter, observational cohort study was conducted in France and enrolled participants from June 2017 to February 2020.

Deuterium Metabolic Imaging Enables the Tracing of Substrate Fluxes Through the Tricarboxylic Acid Cycle in the Liver.

Alterations in tricarboxylic acid (TCA) cycle metabolism are associated with hepatic metabolic disorders. Elevated hepatic acetate concentrations, often attributed to high caloric intake, are recognized as a pivotal factor in the etiology of obesity and metabolic syndrome. Therefore, the assessment of acetate breakdown and TCA cycle activity plays a central role in understanding the impact of diet-induced alterations on liver metabolism.

Exploring the Cognitive and Behavioral Aspects of Shprintzen-Goldberg Syndrome; a Novel Cohort and Literature Review.

Shprintzen-Goldberg-syndrome (SGS) is caused by pathogenic exon 1 variants of SKI. Symptoms include dysmorphic features, skeletal and cardiovascular comorbidities, and cognitive and developmental impairments. We delineated the neurodevelopmental and behavioral features of SGS, as they are not well-documented.

BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations.

An increasing number of individuals with intellectual developmental disorder (IDD) and heterozygous variants in BCL11A are identified, yet our knowledge of manifestations and mutational spectrum is lacking. To address this, we performed detailed analysis of 42 individuals with BCL11A-related IDD (BCL11A-IDD, a.k.

Which tendon graft to choose for anatomical ligament reconstruction in chronic lateral ankle instability? A biomechanical study.

Background: The need for anatomic lateral ligament reconstruction of the ankle continues to grow. This procedure usually requires a gracilis autograft or in some cases an allograft. Siegler et al.

Evaluating the impact and costs of conversional or revisional metabolic bariatric surgery on obstructive sleep apnea: Insights from a French nationwide cohort.

Background: This study assesses the effectiveness of 5 main conversional or revisional metabolic bariatric surgery sequences after sleeve gastrectomy, adjustable gastric banding and gastric bypass on reimbursement and cost of continuous positive airway pressure therapy, the first line treatment for obstructive sleep apnea, in France.

Methods: This nationwide observational population-based cohort study analyzed data from the French National Health Insurance database. It included all patients who had undergone primary metabolic bariatric surgery in France between January 1, 2012, and December 31, 2014, and followed until December 31, 2020.

Dynamics of human serotonin synthesis differentially link to reward anticipation and feedback.

Serotonin (5-HT) plays an essential role in reward processing, however, the possibilities to investigate 5-HT action in humans during emotional stimulation are particularly limited. Here we demonstrate the feasibility of assessing reward-specific dynamics in 5-HT synthesis using functional PET (fPET), combining its molecular specificity with the high temporal resolution of blood oxygen level dependent (BOLD) fMRI. Sixteen healthy volunteers underwent simultaneous fPET/fMRI with the radioligand [C]AMT, a substrate for tryptophan hydroxylase.

SCYL2-related autosomal recessive neurodevelopmental disorders: Arthrogryposis multiplex congenita-4 and beyond?

SCY1-like protein 2 (SCYL2) is a member of the SCY1-like pseudokinase family which regulates secretory protein trafficking. It plays a crucial role in the nervous system by suppressing excitotoxicity in the developing brain. Scyl2 knockout mice have excess prenatal mortality and survivors show severe neurological dysfunction.

Patients with complex and very-early-onset ATL1-related spastic paraplegia offer insights on genotype/phenotype correlations and support for autosomal recessive forms of SPG3A.

Spastic paraplegia type 3A (SPG3A) is the second most common form of hereditary spastic paraplegia (HSP). This autosomal-dominant-inherited motor disorder is caused by heterozygous variants in the ATL1 gene which usually presents as a pure childhood-onset spastic paraplegia. Affected individuals present muscle weakness and spasticity in the lower limbs, with symptom onset in the first decade of life.

Cost-Effectiveness of Sleeve Gastrectomy and Gastric Bypass as Revisional Surgery on Antidiabetic Reimbursement: A Nationwide Cohort Study.

Objective: This study compared the effectiveness of 4 main revisional bariatric surgery (RBS) sequences after sleeve gastrectomy (SG) and adjustable gastric banding (AGB), on the reimbursement of antidiabetic treatments in France.

Background: Few large-scale prospective cohort studies have assessed the changes in antidiabetic treatments after RBS.

Method: This nationwide observational population-based cohort study analyzed data from the French National Health Insurance Database.

Pivotal role of the endoplasmic reticulum stress-related XBP1s/miR-22/SIRT1 axis in acute myeloid leukemia apoptosis and response to chemotherapy.

Malignant growth relies on rapid protein synthesis frequently leading to endoplasmic reticulum (ER) overload and accumulation of unfolded or misfolded protein in this cellular compartment. In the ER, protein homeostasis is finely regulated by a mechanism called the unfolded protein response (UPR), involving the activation of signalization pathways mediated by three transmembrane proteins, namely PERK, IRE1 and ATF6. IRE1 endoribonuclease activation leads in particular to the splicing of the cytosolic mRNA encoding the key UPR-specific transcription factor XBP1s.

A PET/MRI study on the effect of obesity and NAFLD on hepatic [F]FDG uptake.

Purpose: The potential limitations of hepatic [F]FDG-PET imaging for individuals with obesity and excessive liver fat (NAFLD) are being investigated. In this study, we aim to determine the reliability of standardized uptake values (SUVs) focusing on adjustment for liver fat content (LFC) derived from DIXON images and the effects of whole-body normalizations.

Methods: Lean and with obesity volunteers who underwent [F]FDG-PET/MRI were reviewed retrospectively.

Expectations, needs and mid-term outcomes in people accessing to secondary findings from ES: 1st French mixed study (FIND Study).

Generation and subsequently accessibility of secondary findings (SF) in diagnostic practice is a subject of debate around the world and particularly in Europe. The French FIND study has been set up to assess patient/parent expectations regarding SF from exome sequencing (ES) and to collect their real-life experience until 1 year after the delivery of results. 340 patients who had ES for undiagnosed developmental disorders were included in this multicenter mixed study (quantitative N = 340; qualitative N = 26).

The E592K variant of SF3B1 creates unique RNA missplicing and associates with high-risk MDS without ring sideroblasts.

Among the most common genetic alterations in myelodysplastic syndromes (MDS) are mutations in the spliceosome gene SF3B1. Such mutations induce specific RNA missplicing events, directly promote ring sideroblast (RS) formation, and generally associate with a more favorable prognosis. However, not all SF3B1 mutations are the same, and little is known about how distinct hotspots influence disease.

Evaluation of Hepatic Glucose and Palmitic Acid Metabolism in Rodents on High-Fat Diet Using Deuterium Metabolic Imaging.

Background: One of the main features of several metabolic disorders is dysregulation of hepatic glucose and lipid metabolism. Deuterium metabolic imaging (DMI) allows for assessing the uptake and breakdown of H-labeled substrates, giving specific insight into nutrient processing in healthy and diseased organs. Thus, DMI could be a useful approach for analyzing the differences in liver metabolism of healthy and diseased subjects to gain a deeper understanding of the alterations related to metabolic disorders.

Lamentations in the night: A systematic review on catathrenia.

Catathrenia is a loud expiratory moan during sleep that is a social embarrassment and is sometimes confused with central apnea on polysomnography. It affects about 4% of adults, but cases are rarely referred to sleep centers. Catathrenia affects males and females, children and adults, who are usually young and thin.

Patient with a heterozygous pathogenic variant in CSNK2A1 gene: A new case to update the Okur-Chung neurodevelopmental syndrome.

The autosomal dominant Okur-Chung neurodevelopmental syndrome (OCNDS: OMIM #617062) is a rare neurodevelopmental disorder first described in 2016. Features include developmental delay (DD), intellectual disability (ID), behavioral problems, hypotonia, language deficits, congenital heart abnormalities, and non-specific dysmorphic facial features. OCNDS is caused by heterozygous pathogenic variants in CSNK2A1 (OMIM *115440; NM_177559.