Haematopoietic gene therapy of non-conditioned patients with Fanconi anaemia-A: results from open-label phase 1/2 (FANCOLEN-1) and long-term clinical trials.

Background: Allogeneic haematopoietic stem-cell transplantation is the standard treatment for bone marrow failure (BMF) in patients with Fanconi anaemia, but transplantation-associated complications such as an increased incidence of subsequent cancer are frequent. The aim of this study was to evaluate the safety and efficacy of the infusion of autologous gene-corrected haematopoietic stem cells as an alternative therapy for these patients.

Methods: This was an open-label, investigator-initiated phase 1/2 clinical trial (FANCOLEN-1) and long-term follow-up trial (up to 7 years post-treatment) in Spain.

Complications and adverse events in lymphadenectomy of the inguinal area: worldwide expert consensus.

Background: Inguinal lymph node dissection plays an important role in the management of melanoma, penile and vulval cancer. Inguinal lymph node dissection is associated with various intraoperative and postoperative complications with significant heterogeneity in classification and reporting. This lack of standardization challenges efforts to study and report inguinal lymph node dissection outcomes.

Risk factors for severe morbidity and definitive stoma after elective surgery for sigmoid diverticulitis: a multicenter national cohort study.

Background: In the decision to perform elective surgery, it is of great interest to have data about the outcomes of surgery to individualize patients who could safely undergo sigmoid resection. The aim of this study was to provide information on the outcomes of elective sigmoid resection for sigmoid diverticular disease (SDD) at a national level.

Methods: All consecutive patients who had elective surgery for SDD (2010-2021) were included in this retrospective, multicenter, cohort study.

Impact of the first wave of COVID-19 epidemy on the surgical management of sigmoid diverticular disease in France: National French retrospective study.

Objective: To analyze the surgical management of sigmoid diverticular disease (SDD) before, during, and after the first containment rules (CR) for the first wave of COVID-19.

Methods: From the French Surgical Association multicenter series, this study included all patients operated on between January 2018 and September 2021. Three groups were compared: A (before CR period: 01/01/18-03/16/20), B (CR period: 03/17/20-05/03/20), and C (post CR period: 05/04/20-09/30/21).

CUX1-related neurodevelopmental disorder: deep insights into phenotype-genotype spectrum and underlying pathology.

Heterozygous, pathogenic CUX1 variants are associated with global developmental delay or intellectual disability. This study delineates the clinical presentation in an extended cohort and investigates the molecular mechanism underlying the disorder in a Cux1 mouse model. Through international collaboration, we assembled the phenotypic and molecular information for 34 individuals (23 unpublished individuals).

Jejunal Feeding by Gastrojejunal Tube in Pediatric Refractory Gastroesophageal Reflux Disease.

Objectives: The objective of this study is to determine whether jejunal nutrition by gastrojejunal tube (GJT) could be a therapeutic option for refractory gastroesophageal reflux disease (GERD), avoiding further antireflux surgery.

Methods: A monocentric retrospective study was conducted for all children <18 years who underwent GJT placement to treat GERD. We collected data at the first GJT placement, 5 months after last GJT withdrawal, and at the end of the follow-up (June 2021).

Pectoralis-major-pedicled bone window for revision of a shoulder arthroplasty.

Purpose: The aim of this study is to review our experience with the pectoralis-major-pedicled bone window for the revision of shoulder arthroplasty.

Methods: This study used the retrospective case series of six patients who underwent a pectoralis-major-pedicled bone window for revision of shoulder arthroplasty, with a minimum follow-up of 2 years. Demographic, clinical, and radiological data were analyzed.

Efficacy and safety of empagliflozin in glycogen storage disease type Ib: Data from an international questionnaire.

Purpose: This paper aims to report collective information on safety and efficacy of empagliflozin drug repurposing in individuals with glycogen storage disease type Ib (GSD Ib).

Methods: This is an international retrospective questionnaire study on the safety and efficacy of empagliflozin use for management of neutropenia/neutrophil dysfunction in patients with GSD Ib, conducted among the respective health care providers from 24 countries across the globe.

Results: Clinical data from 112 individuals with GSD Ib were evaluated, representing a total of 94 treatment years.

ABO blood group does not influence Child-Pugh A cirrhosis outcome: An observational study from CIRRAL and ANRS CO12 CIRVIR cohorts.

Background And Aims: Non-O blood group promotes deep vein thrombosis and liver fibrosis in both general population and hepatitis C. We aimed to evaluate the influence of Non-O group on the outcome of Child-Pugh A cirrhotic patients.

Methods: We used two prospective cohorts of Child-Pugh A cirrhosis due to either alcohol or viral hepatitis.

Health-Related Quality of Life Analysis in Metastatic Colorectal Cancer Patients Treated by Second-Line Chemotherapy, Associated With Either Cetuximab or Bevacizumab: The PRODIGE 18 Randomized Phase II Study.

Background And Objectives: We have previously showed that for patients with wild-type RAS metastatic colorectal cancer (mCRC) progressing after bevacizumab plus chemotherapy, bevacizumab continuation plus a switch of chemotherapy is the most appropriate option (PRODIGE 18 phase II study). Here we aimed to determine treatment impact in patient's Health-Related Quality Of Life (HRQoL) in PRODIGE18 study.

Methods: HRQoL was evaluated in 2 arms bevacizumab or cetuximab-combined with chemotherapy (modified FOLFOX6 [mFOLFOX6] or FOLFIRI) using the European Organization for Research and Treatment of Cancer (EORTC) QLQ-C30 at baseline, first and third tumor evaluation and at the end of the study.

[Patient partnership and patient education in oncology].

Introduction: Over the last 40years, the French health system has opened up to patient engagement. Society has recognised the legitimacy of the patient as a decision-maker in his or her own health and as an expert in his or her illness. This is true at the individual level in the context of doctor-patient relationship, and at the organisational level within institutions, in decision-making or academic groups.

Which communication strategies can improve interventions aimed at tackling social inequalities in organized cancer screening in France?

Interventions to increase participation in cancer screening programs have been developed and evaluated by our research team. The results observed provide an opportunity to consider which methods of communication should be encouraged to improve those interventions. The objective of this commentary is to recommend communication strategies which should be adopted to efficiently reach and support disadvantaged individuals to engage in cancer screening, as a healthy behaviour.

Subjective visual vertical in patients with Usher syndrome.

Background: Verticality, or more precisely the ability to perceive spatial orientation with regard to gravity, is based on the integration of visual, vestibular and somesthetic information.

Objective: The purpose of the present study was to compare the subjective visual vertical (SVV) in patients with Usher (type I and type II) with visual or vestibular impairment, and in healthy participants, in order to explore the importance of the visual and vestibular functions on the vertical’s perception.

Methods: We evaluated the SVV using a wall housing which projects on the opposite wall a red-light line of about 2 meters, obtained by laser cannon.

Guidelines: Anaesthesia in the context of COVID-19 pandemic.

Objectives: The world is currently facing an unprecedented healthcare crisis caused by the COVID-19 pandemic. The objective of these guidelines is to produce a framework to facilitate the partial and gradual resumption of intervention activity in the context of the COVID-19 pandemic.

Methods: The group has endeavoured to produce a minimum number of recommendations to highlight the strengths to be retained in the 7 predefined areas: (1) protection of staff and patients; (2) benefit/risk and patient information; (3) preoperative assessment and decision on intervention; (4) modalities of the preanaesthesia consultation; (5) specificity of anaesthesia and analgesia; (6) dedicated circuits and (7) containment exit type of interventions.

Efficacy and safety of TNF blockers and of ustekinumab in palmoplantar pustulosis and in acrodermatitis continua of Hallopeau.

Background: Palmoplantar pustulosis (PPP) and acrodermatitis continua of Hallopeau (ACH) are rare variants of psoriasis. Knowledge of the efficacy of biologics is scarce.

Objectives: To evaluate the real-life efficacy of tumour necrosis factor blockers and ustekinumab in PPP and in ACH.

Pediatric Evans syndrome is associated with a high frequency of potentially damaging variants in immune genes.

Evans syndrome (ES) is a rare severe autoimmune disorder characterized by the combination of autoimmune hemolytic anemia and immune thrombocytopenia. In most cases, the underlying cause is unknown. We sought to identify genetic defects in pediatric ES (pES), based on a hypothesis of strong genetic determinism.

Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: Data from the E-HOD registry.

Aim: To explore the clinical presentation, course, treatment and impact of early treatment in patients with remethylation disorders from the European Network and Registry for Homocystinurias and Methylation Defects (E-HOD) international web-based registry.

Results: This review comprises 238 patients (cobalamin C defect n = 161; methylenetetrahydrofolate reductase deficiency n = 50; cobalamin G defect n = 11; cobalamin E defect n = 10; cobalamin D defect n = 5; and cobalamin J defect n = 1) from 47 centres for whom the E-HOD registry includes, as a minimum, data on medical history and enrolment visit. The duration of observation was 127 patient years.

Association between night-time surgery and occurrence of intraoperative adverse events and postoperative pulmonary complications.

Background: The aim of this post hoc analysis of a large cohort study was to evaluate the association between night-time surgery and the occurrence of intraoperative adverse events (AEs) and postoperative pulmonary complications (PPCs).

Methods: LAS VEGAS (Local Assessment of Ventilatory Management During General Anesthesia for Surgery) was a prospective international 1-week study that enrolled adult patients undergoing surgical procedures with general anaesthesia and mechanical ventilation in 146 hospitals across 29 countries. Surgeries were defined as occurring during 'daytime' when induction of anaesthesia was between 8:00 AM and 7:59 PM, and as 'night-time' when induction was between 8:00 PM and 7:59 AM.