A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing.

Purpose: Within the Solve-RD project (https://solve-rd.eu/), the European Reference Network for Intellectual disability, TeleHealth, Autism and Congenital Anomalies aimed to investigate whether a reanalysis of exomes from unsolved cases based on ClinVar annotations could establish additional diagnoses. We present the results of the "ClinVar low-hanging fruit" reanalysis, reasons for the failure of previous analyses, and lessons learned.

Influence of Sociodemographic Determinants on the Hodgkin Lymphoma Baseline Characteristics in Long Survivors Patients Enrolled in the Prospective Phase 3 Trial AHL2011.

Introduction: Whereas numerous studies on several cancers describe the link between social conditions and disease severity, little is known about the social and demographic characteristics of Hodgkin lymphoma (HL) patients. At diagnosis, 10-15% of the patients in the advanced stages have a well-known poor outcome owing to their chemoresistance, but the determinants of the more advanced stages remain elusive. The objective of the present study was to decipher the potential impact of social disparities on the disease features at diagnosis and analyze how the sociodemographic patient features could impact the HL outcome of patients with advanced-stage HL enrolled in the AHL2011 trial.

Predictive Factors of Giant Cell Arteritis in Polymyalgia Rheumatica Patients.

Polymyalgia rheumatica (PMR) is an inflammatory rheumatism of the shoulder and pelvic girdles. In 16 to 21% of cases, PMR is associated with giant cell arteritis (GCA) that can lead to severe vascular complications. Ruling out GCA in patients with PMR is currently a critical challenge for clinicians.

Comparison of oocyte vitrification using a semi-automated or a manual closed system in human siblings: survival and transcriptomic analyses.

Background: Indications of oocyte vitrification increased substantially over the last decades for clinical and ethical reasons. A semi-automated vitrification system was recently developed making each act of vitrification reproducible. In this study, we evaluated the efficiency of the semi-automated technique of oocyte vitrification by survival rate, morphometric assessment and resistance to empty micro-injection gesture as compared with a manual method.

Asymmetric crying facies in an elderly, when a facial asymmetry is not a facial paralysis but a marker of possible congenital malformations: case report and review of the literature.

Background: Facial asymmetry when crying at birth (then called asymmetric crying facies or ACF) or when smiling or speaking loudly in adulthood is the consequence of the agenesis or hypoplasia of the muscle of one of the labial commissures. This developmental disorder of complex mechanism is well known by pediatricians to be a warning sign for underlying developmental disorders of variable severity.

Case Report: An 80-year-old man with medical history of renal agenesis was hospitalized for a transient motor deficit of the right face and arm revealing a lacunar stroke.

Daily practices in chemotherapy for advanced gastric or gastroesophageal junction adenocarcinoma: METESTOMAC French prospective cohort.

Background: Around 50% of gastric cancers are diagnosed at an advanced stage. Several chemotherapy regimens are now internationally validated. Few data are available on the routine daily management of advanced gastric or gastroesophageal junction cancers.

Humoral and cellular immune response after severe acute respiratory syndrome coronavirus 2 messenger ribonucleic acid vaccination in heart transplant recipients: An observational study in France.

Introduction: Heart transplant (HT) recipients have a high risk of developing severe COVID-19. Immunoglobulin G antibodies are considered to provide protective immunity and T-cell activity is thought to confer protection from severe disease. However, data on T-cell response to mRNA vaccination in a context of HT remains limited.

Rapidly spreading deep dissecting hematoma occurring 1 month after a minor trauma: A case report.

A deep dissecting hematoma is the most serious complication of dermatoporosis, consisting of a rapidly expanding blood collection that splits the hypodermis from the muscle fascia. A several-week time lapse between a minor trauma-induced superficial hematoma and its sudden evolution into a rapidly spreading deep dissecting hematoma is unusual. We report the case of a 70-year-old woman with long-term oral anticoagulation and dermatoporosis who suddenly developed a rapidly spreading right-leg deep dissecting hematoma 1 month after minor trauma, for which a surgical debridement and drainage were performed.

Clinical characteristics and factors associated with ICU mortality during the first year of the SARS-Cov-2 pandemic in Romania: A prospective, cohort, multicentre study of 9000 patients.

Background: The epidemiology of critically ill patients with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) may be different worldwide. Despite similarities in medicine quality and formation, there are also significant differences concerning healthcare and ICU organisation, staffing, financial resources and population compliance and adherence. Large cohort data of critically ill patients from Central and Eastern Europe are also lacking.

Remdesivir for Patients Hospitalized with COVID-19 Severe Pneumonia: A National Cohort Study (Remdeco-19).

Background: Given the rapidly evolving pandemic of COVID-19 in 2020, authorities focused on the repurposing of available drugs to develop timely and cost-effective therapeutic strategies. Evidence suggested the potential utility of remdesivir in the framework of an early access program. REMDECO-19 is a multicenter national cohort study assessing the ability of remdesivir to improve the outcome of patients hospitalized with COVID-19.

Upper-limb acute superficial lymphatic thrombosis: A case report.

Upper-limb acute superficial lymphatic is a rare phenomenon that has received little attention in the medical literature to date, yet it mimics superficial venous thrombosis and may also complicate a skin punch biopsy.

C-reactive protein identifies patients at low risk of anastomotic leak after esophagectomy.

Purpose: Fast-track protocols are increasingly used after digestive surgery. After esophagectomy, the gravity and the fear of anastomotic leak may be an obstacle to generalization of such protocols. C-reactive protein (CRP) might be a reliable tool to identify patients at low risk of anastomotic leak after esophagectomy, so that they can be safely included in a fast-track program.

Caregiver Representations of Therapeutic Patient Education Programmes for People with Schizophrenia: A Qualitative Study.

In France, there are two main types of psychosocial educational therapies for people with mental disorders: (1) therapeutic patient education (TPE) or "training", and (2) psychoeducation. Both types of educational therapy aim to improve disease morbidity, treatment compliance and patient quality of life, but they have very different modes of application. The aim of this study was to interview mental health professionals in order to explore and identify the determinants (barriers and enablers) underlying their acceptance of therapeutic patient education (TPE) in order to facilitate the implementation of these programmes among people with severe mental illness such as schizophrenia.

Proximal row carpectomy generates better mid- to long-term outcomes than four-corner arthrodesis for post-traumatic wrist arthritis: A meta-analysis.

Introduction: In posttraumatic wrist arthritis of intermediate severity, two main palliative procedures are used to preserve some mobility in the wrist: proximal row carpectomy (PRC) and scaphoid excision followed by four corner arthrodesis (4CA). Despite satisfactory overall results, the debate continues about which one provides the best results and long-term outcomes, particularly prevention of arthritis progression. Recent comparative studies now provide us with information about mid- and long-term results.

Perioperative trajectory of plasma viscosity: A prospective, observational, exploratory study in cardiac surgery.

Objective: Plasma viscosity is one of the critical factors that regulate microcirculatory flow but has received scant research attention. The main objective of this study was to evaluate plasma viscosity in cardiac surgery with respect to perioperative trajectory, main determinants, and impact on outcome.

Methods: Prospective, single center, observational study, including 50 adult patients undergoing cardiac surgery with cardiopulmonary bypass between February 1, 2020 and May 31, 2021.

Life expectancy and likelihood of surgery in multiple endocrine neoplasia type 1: AFCE and GTE cohort study.

Background: The overall natural history, risk of death and surgical burden of patients with multiple endocrine neoplasia type 1 (MEN1) is not well known.

Methods: Patients with MEN1 from a nationwide cohort were included. The survival of patients with MEN1 was compared with that of the general population using simulated controls.

Treatment of Hyperlactatemia in Acute Circulatory Failure Based on CO-O-Derived Indices: Study Protocol for a Prospective, Multicentric, Single, Blind, Randomized, Superiority Study (The LACTEL Study).

Background: Hyperlactatemia is a biological marker of tissue hypoperfusion with well-known diagnostic, prognostic, and therapeutic implications in shock states. In daily clinical practice, it is difficult to find out the exact mechanism underlying hyperlactatemia. Central venous to arterial CO difference (pCO gap) is a better parameter of tissue hypoperfusion than the usual ones (clinical examination and mixed venous saturation).

Role of Electromechanical Dyssynchrony Assessment During Acute Circulatory Failure and Its Relation to Ventriculo-Arterial Coupling.

Introduction: Two parallel paradigms of cardiovascular efficiency and haemodynamic optimisation coexist in haemodynamic research. Targeting ventriculo-arterial (VA) coupling [i.e.