Discovery of pathogenic variants in EFEMP2 and RAG1 and undetectable fetal phenotype: A challenge of prenatal exome sequencing.

Background: Exome sequencing in prenatal context confronts with pathogenic variants associated with phenotypes that are not detectable prenatally.

Materials And Methods: A consanguineous couple was referred at 24 weeks of gestation for prenatal genetic investigations after ultrasonography findings including decreased fetal movements, hypoplastic male external genitalia, retrognathia, prefrontal edema, anomalies of the great vessels with pulmonary atresia and dilated tortuous aorta.

Result: Prenatal trio exome sequencing identified two homozygous likely pathogenic variants, i.

[Nursing support in the decision-making process regarding the choice of renal replacement therapy: A scoping review].

Context: Chronic kidney disease affects 7 to 10 percent of the French population. Entering the end stage of the disease requires a choice to be made between several options. The aim is to document the nursing practices used to support these patients in choosing their renal replacement therapy and to determine the elements that promote decision-making.

[The creation of an advanced practice department within a GHT].

In order to meet the health needs of the population, the joint management of three establishments in the Yvelines Nord territorial hospital group has chosen to deploy advanced nursing practice. To facilitate the implementation of these professionals, an innovative organization has been designed, resulting in the creation of a specific department. The advanced practice nurse is part of a coordinated care pathway where his or her pivotal role in patient care leads him or her to develop numerous partnerships.

[Social management of patients affected by a bone growth problem].

Children and adolescents with a bone growth disorder need lifelong medical care. The establishment of a social support system allows them to benefit from the necessary assistance for the evolution of their pathology, from birth to their entry into school and then into professional life.

[Chronic illness and body image construction, the aesthetic concern of the adolescent].

Chronic illnesses, such as diabetes, have an impact on the body, but also on the psyche, disturbing the body image of the child or adolescent. This must be integrated into their"growing up process". To this end, health care professionals specialising in these populations provide the most appropriate support during these periods of doubt and uncertainty.

Diagnosis of acute appendicitis based on clinical scores: is it a myth or reality?

Background and aim of the work In April 2020, the World Society of Emergency Surgery (WSES) published the first update to the Jerusalem Guidelines on the diagnosis and treatment of acute appendicitis. In this review we have reported a summary of the contemporary evidence from the literature that led to the guidelines statements on the diagnostic strategies for appendicitis. Methods A systematic literature search was performed for studies published on the use of the most common clinical scores and imaging for the diagnosis of appendicitis.

Use of Systemic Medications for Treating Adult Atopic Dermatitis in France: Results of a Practice Survey.

Purpose: Recent studies have illustrated that systemic medications are underused for treating adult atopic dermatitis (AD) and that dermatologists have concerns regarding the safety profile of cyclosporine in AD.

Patients And Methods: We performed a national online practice survey between March and April 2020.

Results: A total of 305 dermatologists responded, 57% with hospital-based activity and 43% with private practice.

Epidemiology and Clinical Presentation of Children Hospitalized with SARS-CoV-2 Infection in Suburbs of Paris.

Understanding the clinical presentation of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection and prognosis in children is a major issue. Children often present mild symptoms, and some severe forms require paediatric intensive care, with in some cases a fatal prognosis. Our aim was to identify the epidemiological characteristics, clinical presentation, and prognosis of children with coronavirus disease 2019 (Covid-19) hospitalized in Paris suburb hospitals.

Emergency surgery during the COVID-19 pandemic: what you need to know for practice.

Introduction: Several articles have been published about the reorganisation of surgical activity during the COVID-19 pandemic but few, if any, have focused on the impact that this has had on emergency and trauma surgery. Our aim was to review the most current data on COVID-19 to provide essential suggestions on how to manage the acute abdomen during the pandemic.

Methods: A systematic review was conducted of the most relevant English language articles on COVID-19 and surgery published between 15 December 2019 and 30 March 2020.

Emergency general surgeons: the special forces of general surgery (the "navy seals paradigm").

Emergency surgeons have a crucial role in bridging the gap of skills resulting from the well-known general surgery fragmentation. The multi-specialist general surgery approach is still necessary to define proper diagnosis and therapy priorities in an emergency. Governments have to find effective organizational solutions to maintain emergency general surgery standards of care and to improve them further.

Characteristics of prescription in 29 Level 3 Neonatal Wards over a 2-year period (2017-2018). An inventory for future research.

Objectives: The primary objective of this study is to determine the current level of patient medication exposure in Level 3 Neonatal Wards (L3NW). The secondary objective is to evaluate in the first month of life the rate of medication prescription not cited in the Summary of Product Characteristics (SmPC). A database containing all the medication prescriptions is collected as part of a prescription benchmarking program in the L3NW.

Efficacy and safety of one anastomosis gastric bypass versus Roux-en-Y gastric bypass for obesity (YOMEGA): a multicentre, randomised, open-label, non-inferiority trial.

Background: One anastomosis gastric bypass (OAGB) is increasingly used in the treatment of morbid obesity. However, the efficacy and safety outcomes of this procedure remain debated. We report the results of a randomised trial (YOMEGA) comparing the outcomes of OAGB versus standard Roux-en-Y gastric bypass (RYGB).

Experts' guidelines of intubation and extubation of the ICU patient of French Society of Anaesthesia and Intensive Care Medicine (SFAR) and French-speaking Intensive Care Society (SRLF) : In collaboration with the pediatric Association of French-speaking Anaesthetists and Intensivists (ADARPEF), French-speaking Group of Intensive Care and Paediatric emergencies (GFRUP) and Intensive Care physiotherapy society (SKR).

Background: Intubation and extubation of ventilated patients are not risk-free procedures in the intensive care unit (ICU) and can be associated with morbidity and mortality. Intubation in the ICU is frequently required in emergency situations for patients with an unstable cardiovascular or respiratory system. Under these circumstances, it is a high-risk procedure with life-threatening complications (20-50%).