947 results match your criteria: "centre hospitalier universitaire de Nantes[Affiliation]"

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).

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Objective: To assess the accuracy of "diabetes overtreatment" proxy definitions in predicting hypoglycemia in older adults with type 2 diabetes (T2D).

Research Design And Methods: Inclusion of patients from HYPOAGE cohort with insulin-treated T2D, aged ≥75 years, and using a continuous glycemic monitoring (CGM) device for 28 days. "Diabetes overtreatment" was defined as HbA1c <7.

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Article Synopsis
  • The study aimed to compare the effectiveness of subconjunctival triamcinolone acetonide injections with intravitreal dexamethasone implants in reducing central macular thickness in patients with uveitic and postoperative macular edema.
  • An open-label, multicenter trial involved 106 adults who were randomly assigned to receive either treatment; the main measure was the change in central macular thickness after 2 months.
  • Results indicated that triamcinolone is likely as effective as dexamethasone, particularly for postoperative edema, with no significant differences in side effects, but conclusive non-inferiority was not established at the 2-month mark.
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  • There is increasing interest in analyzing kidney biopsies through transcriptomic assessments to understand gene expression changes related to rejection.
  • This study used next-generation sequencing (NGS) on RNA from 770 kidney biopsies to identify differentially expressed genes (DEGs) associated with antibody-mediated rejection (AMR) and T cell-mediated rejection (TCMR), revealing 603 and 1,186 new specific genes, respectively.
  • Pathway analysis linked established panels to immunological processes in AMR and TCMR, while NGS uncovered novel transcripts that could inform future drug design and therapeutic strategies.
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X-linked transient antenatal Bartter syndrome related to MAGED2 gene: Enriching the phenotypic description and pathophysiologic investigation.

Genet Med

July 2024

Université Paris Cité, Inserm, PARCC, Paris, France; Service de Médecine Génomique, Hôpital Européen Georges Pompidou, Fédération de Génétique et de Médecine Génomique Assistance Publique-Hôpitaux de Paris Centre Université Paris Cité, Paris, France; Centre de Recherche Cardio-vasculaire de Paris, UMR970, Paris, France. Electronic address:

Article Synopsis
  • Transient Bartter syndrome caused by MAGED2 variants is the newest type of antenatal Bartter syndrome and presents as the most severe form during the perinatal period; this study examines 14 new cases and the incomplete penetrance specifically in women.
  • The research involved 54 symptomatic patients, revealing a mix of outcomes: 27% resolved symptoms, 41% had ongoing complications, and 32% faced fatality, with common clinical anomalies including renal and cardiovascular issues.
  • The findings enhance the understanding of MAGED2’s phenotype and genetics, while also highlighting varying patient outcomes, which informs genetic counseling for affected families.
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EEG for good outcome prediction after cardiac arrest: A multicentre cohort study.

Resuscitation

September 2024

Department of Clinical Sciences Lund, Clinical Neurophysiology, Lund University, Lund, Sweden. Electronic address:

Aim: Assess the prognostic ability of a non-highly malignant and reactive EEG to predict good outcome after cardiac arrest (CA).

Methods: Prospective observational multicentre substudy of the "Targeted Hypothermia versus Targeted Normothermia after Out-of-hospital Cardiac Arrest Trial", also known as the TTM2-trial. Presence or absence of highly malignant EEG patterns and EEG reactivity to external stimuli were prospectively assessed and reported by the trial sites.

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Article Synopsis
  • A study examined the mortality and factors affecting outcomes for 1,164 patients who underwent allogeneic hematopoietic stem-cell transplantation and were admitted to ICUs in France from 2015 to 2020.
  • The findings revealed a 90-day mortality rate of 48%, with higher risks linked to age, time from transplant to ICU admission, and the need for invasive treatments like vasopressors and mechanical ventilation.
  • Despite high mortality rates, many critically ill patients who received intensive care did survive their ICU stays, prompting the need for a careful evaluation of treatment options for those with multiple risk factors.
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Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes.

Am J Hum Genet

August 2024

Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK; Manchester Centre for Genomic Medicine, Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.

Article Synopsis
  • KMT2C and KMT2D are important enzymes that modify genes, with KMT2C haploinsufficiency recently linked to Kleefstra syndrome 2, a neurodevelopmental disorder (NDD) with unknown clinical details.
  • A study involving 98 individuals found that most pathogenic variants in KMT2C span nearly all its exons, making variant interpretation difficult; the study also established a KMT2C DNA methylation signature for better classification of the disorder.
  • Key features of KMT2C-related NDD include developmental delays, intellectual disabilities, and distinct facial characteristics, setting it apart from similar conditions like Kleefstra and Kabuki syndromes, indicating the need for its renaming and
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Objectives: Avacopan, a selective C5aR1 inhibitor, recently emerged as a glucocorticoid (GCs) sparing agent in ANCA-associated vasculitis (AAV). We aim to evaluate the tolerance and efficacy of avacopan given outside randomized clinical trials or with severe kidney involvement.

Methods: In this multicentre retrospective study, we reviewed the clinical charts of patients with AAV and contraindication to high dose of GCs who received avacopan 30 mg b.

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Type 2N von Willebrand disease: genotype drives different bleeding phenotypes and treatment needs.

J Thromb Haemost

October 2024

Hematology and Transfusion Department, Institut National de la Santé et de la Recherche Médicale, Centre Hospitalier Universitaire de Lille, Institut Pasteur de Lille, Université de Lille, U1011-European Genomic Institute for Diabetes, Lille, France. Electronic address:

Article Synopsis
  • Type 2 Normandy von Willebrand disease (VWD2N) is generally seen as a mild bleeding disorder treatable with desmopressin (DDAVP), but the genetic variations among patients, especially the common variant p.Arg854Gln (R854Q), can significantly influence disease severity and treatment response.
  • A study involving 123 VWD2N patients analyzed their phenotype and DDAVP response based on genotype, revealing that those with R854Q alleles exhibited different clinical outcomes and bleeding symptoms compared to those without.
  • The findings indicate that genetic factors, particularly the presence of the R854Q variant, affect factor VIII levels and the efficacy of DDAVP, highlighting the importance of tailored treatment approaches for V
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  • In 2019, a survey identified potentially inappropriate prescriptions (PIP) of psychotropic drugs among elderly patients, prompting a study to evaluate the clinical relevance of these prescriptions using established criteria.
  • The study focused on patients over 75 or those aged 64 to 75 with multiple health issues, analyzing prescriptions within 48 hours of hospitalization based on criteria like STOPP/STARTv2.
  • Out of 125 noted PIPs, a significant portion were considered irrelevant, particularly for benzodiazepines (49.2%), neuroleptics (50%), and antidepressants (20%), though some were deemed partially or relevant, especially among antidepressants where 66.7% were considered relevant.
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Article Synopsis
  • Tatton-Brown-Rahman syndrome (TBRS) is a genetic disorder characterized by overgrowth, intellectual disability, and distinct facial features, resulting from mutations in a gene that regulates DNA methylation.* -
  • A study of 24 French patients identified 17 new genetic variants, confirming that 100% showed intellectual disability, 96% had distinctive facial traits, and 87% exhibited overgrowth, alongside novel symptoms like hypertrichosis.* -
  • The findings enhance the understanding of TBRS's clinical presentation, aiding in diagnosis and patient care by clarifying its genetic and phenotypic diversity.*
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Article Synopsis
  • Glioblastoma (GBM) is a very aggressive brain tumor with treatment challenges due to its complex and varying characteristics; this study focuses on the metabolic features of Glioblastoma stem cells (GSC) that are crucial for tumor growth and resistance to therapies.
  • Researchers performed extensive analyses on brain tumor cultures and found that GSCs have unique glycolytic profiles compared to regular tumor cells, heavily relying on the enzyme pyruvate carboxylase (PC) for their survival and growth.
  • Inhibiting PC leads to GSC death, increases differentiation, and can restore sensitivity to the chemotherapy drug etoposide, indicating that targeting PC could be an effective strategy to combat therapy resistance in GBM.
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Article Synopsis
  • In September 2023, France launched a national immunization campaign using nirsevimab, a monoclonal antibody targeting respiratory syncytial virus (RSV).
  • A case-control study was conducted with 288 infants from 20 pediatric intensive care units (PICUs) to assess the effectiveness of nirsevimab against severe RSV bronchiolitis.
  • The study found nirsevimab to have an effectiveness of 75.9% in the main analysis, with higher estimates of 80.6% and 80.4% in sensitivity analyses, confirming its efficacy observed in previous clinical trials.
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Article Synopsis
  • A study was conducted across 49 ICUs in France to investigate the clinical outcomes and severity of severe Pneumocystis jirovecii pneumonia (PJP), focusing on how delayed antibiotic treatment and corticosteroid therapy affect patient survival.
  • The study included 158 patients, mainly admitted due to acute respiratory failure, and found high mortality rates (31.6% in ICU, 40.5% at 6 months), with delayed antibiotic treatment beyond 96 hours linked to a significantly higher risk of death.
  • The results indicate that most patients did not receive preventive antibiotic therapy before needing intensive care, and both delayed antibiotic treatment and the use of corticosteroids worsened mortality rates in those with severe PJP.
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Objectives: Nontuberculous mycobacteria (NTM) bone and joint infections (BJIs) are uncommon. We evaluated the characteristics of BJIs and identified differences according to immune status.

Methods: We performed a multicenter retrospective study in France involving patients with documented NTM BJI over a 9-year period.

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Low frequency of Vγ9Vδ2 T cells predicts poor survival in newly diagnosed acute myeloid leukemia.

Blood Adv

August 2024

Equipe Immunité et Cancer, Centre de Recherche en Cancérologie de Marseille, INSERM U1068, CNRS UMR7258, Institut Paoli-Calmettes, Aix-Marseille Université, UM105, Marseille, France.

Article Synopsis
  • In patients with acute myeloid leukemia (AML), a higher presence of Vγ9Vδ2 T cells at diagnosis is associated with better overall and relapse-free survival rates.
  • This study analyzed immunophenotypic data from 198 newly diagnosed AML patients to determine how Vγ9Vδ2 T-cell frequency impacts prognosis while adjusting for various confounding factors.
  • The findings support the importance of Vγ9Vδ2 T cells in AML prognosis and suggest potential treatment strategies that could boost these T-cell responses in patients.
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Objective: This study aims to describe the outcome of corneal grafts, both low risk and high risk, after successfully reversed immunological rejection.

Methods: Datasets on reversed rejection episodes in penetrating and endothelial keratoplasties between 2014 and 2019 (n=876) were extracted from the Adverse Immune Signatures and their Prevention in Corneal Transplantation database, which contains the prospectively and consecutively collected corneal transplants from five European centres. Stratified by the preoperatively determined risk status for immunological rejection, the outcome parameters analysed included visual acuity, intraocular pressure, endothelial cell density and central corneal thickness before and after reversed rejection episodes.

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Article Synopsis
  • Preterm premature rupture of membranes (PPROM) causes 1-3% of premature deliveries, and while conventional hospitalization (CH) is common, homecare (HC) may also be a viable option.* -
  • The study compared the impacts of HC and CH on the latency period for pregnant patients experiencing PPROM, revealing that HC patients had a significantly longer latency period and higher latency ratio.* -
  • Results indicated that HC can be beneficial for stable patients, as the latency period was longer in the HC group compared to the CH group, suggesting that HC may optimize outcomes for certain patients.*
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Introduction: Immunoglobulin A nephropathy (IgAN) associated with cirrhosis is frequent but often overlooked because it is largely considered silent. Until now, little has been known about their presentation and outcomes.

Methods: We conducted a retrospective multicenter study on patients with kidney biopsy-proven cirrhosis-related IgAN (cirrhosis-IgAN), diagnosed between 2009 and 2022.

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Sexual dysfunction in cystic fibrosis.

J Cyst Fibros

July 2024

CRCM (Centre de Ressources et de Compétences de la Mucoviscidose), Fondation Ildys, Roscoff, France; Service d'explorations fonctionnelles, Fondation Ildys, Roscoff, France.

Background: Sexual dysfunction (erectile dysfunction in males, sexual dissatisfaction, sexual interest/arousal disorders, and dyspareunia in females) has not been the subject of indepth research in people with cystic fibrosis (CF). This study aimed to determine the prevalence of sexual dysfunction in adults with CF, factors associated with sexual dysfunction, and the impact of sexual dysfunction on quality of life.

Method: We conducted a multicentre study in adults with cystic fibrosis followed in specialist centres in Western France.

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Article Synopsis
  • Acute leukaemias are serious blood cancers that require quick and accurate diagnosis of their three main types (ALL, AML, APL) to ensure proper treatment and reduce mortality risk, but expert diagnosis can be challenging due to resource limitations.
  • Researchers aimed to develop a machine-learning model using routine laboratory data to identify leukaemia subtypes and improve diagnostic accuracy without the need for extensive cytological expertise.
  • The study involved data from six French hospitals and successfully built the Artificial Intelligence Prediction of Acute Leukemia (AI-PAL) tool, which demonstrated strong performance in predicting leukaemia subtypes based on 19 selected laboratory parameters from the patient datasets.
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LIM Kinases, LIMK1 and LIMK2, have become promising targets for the development of inhibitors with potential application for the treatment of several major diseases. LIMKs play crucial roles in cytoskeleton remodeling as downstream effectors of small G proteins of the Rho-GTPase family, and as major regulators of cofilin, an actin depolymerizing factor. In this article we describe the conception, synthesis, and biological evaluation of novel tetrahydropyridine pyrrolopyrimidine LIMK inhibitors.

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Background: Major depressive disorder is one of the leading causes of disability worldwide. Although most international guidelines recommend psychological and psychosocial interventions as first-line treatment for mild to moderate depression, access remains limited in France due to the limited availability of trained clinicians, high costs for patients in the context of nonreimbursement, and the fear of stigmatization. Therefore, online blended psychological treatment such as Deprexis could improve access to care for people with depression.

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