Next Generation Phenotyping and Synthetic Faces in Coffin Siris Syndrome.

Diagnostic wandering and delayed management are major issues in rare diseases. Here, we report a new Next-Generation Phenotyping (NGP) model for diagnosing Coffin Siris syndrome (CSS) on clinical photographs among controls and distinguish the different genotypes. This retrospective and prospective study, conducted from 1998 to 2023, included frontal and lateral pictures of confirmed CSS.

Impact of Arch Disease Pathology on Outcomes of Zone 0 Branched Thoracic Endovascular Arch Repair.

Objective: Zone 0 branched thoracic endovascular arch repair (Z0BTEVAR) has emerged as an alternative to open repair for high-risk patients with aortic arch pathology. However, it is unclear how disease characteristics in this population impacts clinical outcomes. The study aimed to compare Z0BTEVAR according to arch disease pathology and to identify potential predictors of post-operative outcomes.

Effectiveness of physiotherapy modalities on persisting dyspnoea in long COVID: A systematic review and meta-analysis.

Background: Dyspnoea is often found months and years later in the "long-covid" syndrome, impairing quality of life and further perpetuating anxiety and post-traumatic stress disorders. Physiotherapy was recommended as a treatment in long-covid, but there is still insufficient evidence on its effectiveness.

Methods: We conducted a systematic literature search on MEDLINE, PEDro, WOS, Scopus, VHL and the Cochrane Library until July 2023 (PROSPERO registration number: CRD42023427464).

Convalescent plasma in patients receiving Rituximab or Ocrelizumab for Multiple Sclerosis or Neuromyelitis Optica Spectrum Disorder with COVID-19: A Multicenter Retrospective Study.

Background: Despite vaccination, patients receiving anti-CD20 monoclonal antibodies (mAbs) for multiple sclerosis (MS) or neuromyelitis optica spectrum disorders (NMOSD) have an increased risk of developing severe or protracted COVID-19. The aim of this study was to describe the effect of COVID-19 convalescent plasma (CCP) in patients with MS or NMOSD exposed to anti-CD20 and infected by SARS-CoV-2.

Methods: This French national, retrospective cohort study was conducted between November 2020 and June 2023.

Hematologists' perspective on advance directives, a French national cross-sectional survey - the ADORE-H study.

Background: The onset of hematological malignancies can lead to acute and critical situations. It can also result in adverse outcome despite the significant advancements made in their therapeutic management. In this context, advance care planning and, in particular, advance directives (AD) play an essential role.

Top-down infliximab plus azathioprine versus azathioprine alone in patients with acute severe ulcerative colitis responsive to intravenous steroids: a parallel, open-label randomised controlled trial, the ACTIVE trial.

Background: It is unknown which maintenance therapy is the most effective option for patients admitted for an acute severe ulcerative colitis (ASUC) episode responding to intravenous steroids.

Methods: We conducted a multicentre, parallel-group, open-label randomised controlled trial among 23 French centres in thiopurine and biologics-naïve adults admitted for ASUC responding to intravenous steroids. Eligible patients were randomly assigned to receive infliximab (IFX) and azathioprine (AZA) with a 7-day steroid tapering scheme (IFX+AZA arm) or AZA and conventional standardised steroid tapering regimen (AZA arm).

Long-term outcomes of stenting superior cava and brachio-cephalic vein occlusion in hemodialysis patients with arteriovenous fistulas.

Objective: Central vein occlusion (CVO) is a significant complication in patients undergoing chronic hemodialysis, often leading to dialysis inefficacy, disabling symptoms, and, most critically, major risk of access failure. Although stenting has been proposed as a technique to maintain vascular access patency following the recanalization of occluded central veins, the data supporting its long-term efficacy remains limited. This study aims to evaluate the long-term effectiveness of stenting occluded superior vena cava (SVC) and/or brachiocephalic veins to preserve vascular access patency, ensure continued dialysis efficacy, and relieve SVC syndrome.

Exploring the Endothelin-1 pathway in chronic thromboembolic pulmonary hypertension microvasculopathy.

Targeted vasopeptide therapies have significantly advanced the management of pulmonary arterial hypertension (PAH). However, due to insufficient preclinical evidence regarding the involvement of the endothelin-1 (ET-1) pathway in chronic thromboembolic pulmonary hypertension (CTEPH) pathophysiology, the potential of ET-1 receptor antagonism in treating CTEPH remains uncertain. In this study, we investigated the role of the ET-1 pathway in CTEPH microvasculopathy using a multifaceted approach.

The benefit of automated sac volume measurements in postoperative endovascular aortic repair surveillance.

Objective: Abdominal aortic aneurysm (AAA) shrinkage is considered a marker for success following endovascular aortic repair (EVAR). Although maximum diameter is widely used to assess sac behavior, research indicates that changes in AAA morphology do not always affect the maximum diameter. The aim of this study was to investigate if automated AAA sac volume measurements after EVAR can add more nuanced information on sac behavior compared with maximum diameter evaluation alone.

Transcriptome analyses reveal common immune system dysregulation in PAH patients and -deficient rats.

Pulmonary arterial hypertension (PAH) is a severe disease caused by progressive distal pulmonary artery obstruction. One cause of PAH are loss-of-function mutations in the potassium channel subfamily K member 3 (KCNK3). KCNK3 encodes a two-pore domain potassium channel, which is crucial for pulmonary circulation homeostasis.

Polymer Everolimus-Eluting Stent as Bailout Stenting for Below-the-Knee Artery Repair in Patients with Critical Limb-Threatening Ischemia: A Real-World National Registry.

Objectives: Percutaneous old balloon angioplasty is still the preferred treatment for the treatment of below-the-knee (BTK) arteries in chronic limb-threatening ischemia (CLTI). In the case of a suboptimal angioplasty result, a bailout stenting is required. So far, few data are available to assess the outcomes of bailout stenting after BTK angioplasty.

The corticospinal tract in multiple sclerosis: correlation between cortical excitability and magnetic resonance imaging measures.

Multiple sclerosis (MS) is a central nervous system disease involving gray and white matters. Transcranial magnetic stimulation (TMS) and magnetic resonance imaging (MRI) could help identify potential markers of disease evolution, disability, and treatment response. This work evaluates the relationship between intracortical inhibition and facilitation, motor cortex lesions, and corticospinal tract (CST) integrity.

Levofloxacin activity at increasing doses in a murine model of fluoroquinolone-susceptible and -resistant tuberculosis.

High-dose levofloxacin was explored in a clinical trial against multidrug-resistant tuberculosis and failed to show increased efficacy. In this study, we used a murine model to explore the efficacy of a dose increase in levofloxacin monotherapy beyond the maximum dose evaluated in humans. A total of 120 4-week-old female BALB/c mice were intravenously infected with 10 CFU of H37Rv wild-type (WT) or isogenic H37Rv mutants harboring GyrA A90V or D94G substitutions; the MICs were 0.

Postoperative rectovaginal fistula: stoma may not be necessary-a French retrospective cohort.

Background: Postoperative rectovaginal fistula leads to a loss of patients' quality of life and presents significant challenges to the surgeon. The literature focusing specifically on postoperative rectovaginal fistulas is limited. The objective of the present study is to identify factors that can enhance the success of the management of this postoperative rectovaginal fistula.

Microbiological Profile of Instrumented Spinal Infections: 10-Year Study at a French Spine Center.

Objective: The objective was to compare the microbiological characteristics and treatment of early and late surgical site infections (SSIs) in instrumented spinal surgery.

Methods: Those patients admitted for SSIs in a single center between January 2010 and December 2022 were included. The subjects were divided into early (eSSIs) and late (lSSIs) SSIs, and demographic, microbiological, treatment, and follow-up data were collected.