Haploinsufficiency in PTPN2 leads to early-onset systemic autoimmunity from Evans syndrome to lupus.

An exome sequencing strategy employed to identify pathogenic variants in patients with pediatric-onset systemic lupus or Evans syndrome resulted in the discovery of six novel monoallelic mutations in PTPN2. PTPN2 is a phosphatase that acts as an essential negative regulator of the JAK/STAT pathways. All mutations led to a loss of PTPN2 regulatory function as evidenced by in vitro assays and by hyperproliferation of patients' T cells.

ANCA-associated scleritis: impact of ANCA on presentation, response to therapy and outcome.

Objectives: To describe the characteristics, treatment and outcome of isolated ANCA-associated scleritis at diagnosis compared with idiopathic scleritis with negative ANCA tests.

Methods: This retrospective multicentre case-control study was performed within the French Vasculitis Study Group (FVSG) network and in three French tertiary ophthalmologic centres. Data from patients with scleritis without any systemic manifestation and with positive ANCA results were compared with those of a control group of patients with idiopathic scleritis with negative ANCA tests.

Metal-Free Chemoselective Reduction of Nitroarenes Catalyzed by Covalent Triazine Frameworks: The Role of Embedded Heteroatoms.

Chemoselective reduction of nitroarenes to arylamines is a core technology for the synthesis of numerous chemicals. The technology, however, relies on applying precious noble metal catalysts. We present our findings on the development of robust nanoporous covalent triazine frameworks (CTFs) as metal-free catalysts for the green chemoselective reduction of nitroarenes.

White blood count, D-dimers, and ferritin levels as predictive factors of pulmonary embolism suspected upon admission in noncritically ill COVID-19 patients: The French multicenter CLOTVID retrospective study.

Background: A high prevalence of pulmonary embolism (PE) has been described during COVID-19. Our aim was to identify predictive factors of PE in non-ICU hospitalized COVID-19 patients.

Methods: Data and outcomes were collected upon admission during a French multicenter retrospective study, including patients hospitalized for COVID-19, with a CT pulmonary angiography (CTPA) performed in the emergency department for suspected PE.

D-Dimer Level and Neutrophils Count as Predictive and Prognostic Factors of Pulmonary Embolism in Severe Non-ICU COVID-19 Patients.

The incidence of pulmonary embolism (PE) is high during severe Coronavirus Disease 2019 (COVID-19). We aimed to identify predictive and prognostic factors of PE in non-ICU hospitalized COVID-19 patients. In the retrospective multicenter observational CLOTVID cohort, we enrolled patients with confirmed RT-PCR COVID-19 who were hospitalized in a medicine ward and also underwent a CT pulmonary angiography for a PE suspicion.

[Characteristics of patients admitted from emergency units in 18 internal medicine departments and organisation of these departments: A cross sectional study from SNFMI (SiFMI study group) in 2015].

Introduction: Patients admitted from emergency units represent a large portion of the population in internal medicine departments. The aim of this study is to identify characteristics of patients and organization of these departments.

Methods: Between June 29th and July 26th 2015, voluntary internal medicine departments from the SiFMI group prospectively filled anonymized internet forms to collect data of each patients admitted in their ward from emergency units, during seven consecutive days.

Contribution of an Early Internal Medicine Rotation to the Clinical Reasoning Learning for Young Residents.

Clinical reasoning is the cornerstone of medical practice, and achieving this competence depends on a large number of factors. Internal medicine departments provide junior doctors with plentiful and varied patients, offering a comprehensive basis for learning clinical reasoning. In order to evaluate the usefulness of an early rotation at internal medicine departments, we compared, via script concordance tests, the evolution of residents' clinical reasoning after an initial internal medicine rotation compared to rotations through other medical specialties.

Active tuberculosis, sequelae and COVID-19 co-infection: first cohort of 49 cases.

https://bit.ly/369ZGGu

18F-FDG Imaging of a Case of Disseminated Nocardiosis.

Nocardiosis is an uncommon infection caused by ubiquitous environmental aerobic gram-positive filamentous bacteria, present in soil and water. Skin and lungs are usually the main targets of localized infections. Rarely, disseminated forms can occur in immunocompromised individuals.

Infections Revealing Complement Deficiency in Adults: A French Nationwide Study Enrolling 41 Patients.

Complement system is a part of innate immunity, its main function is to protect human from bacterial infection. As genetic disorders, complement deficiencies are often diagnosed in pediatric population. However, complement deficiencies can also be revealed in adults but have been poorly investigated.

Treatment of thrombotic thrombocytopenic purpura beyond therapeutic plasma exchange.

Daily therapeutic plasma exchange (TPE) transformed the historically fatal prognosis of acquired, anti-ADAMTS13 antibody-mediated thrombotic thrombocytopenic purpura (TTP), leading to the current overall survival rates of 80%-85%. However, relapses occur in ~40% of patients and refractory disease with fatal outcomes still occurs. In this context, the introduction of rituximab has probably been the second major breakthrough in TTP management.

Rituximab in autoimmune thrombotic thrombocytopenic purpura: A success story.

Despite a significant improvement of thrombotic thrombocytopenic purpura (TTP) prognosis since the use of plasma exchange, morbidity and mortality remained significant because of poor response to standard treatment or exacerbations and relapses. Rituximab, a chimeric monoclonal antibody directed against the B-lymphocyte CD20 antigen, has shown a particular interest in this indication. Recent studies also reported strong evidence for its efficiency in the prevention of relapses.

[Hyper-reactive malarial splenomegaly].

Hyper-reactive malarial splenomegaly is a rare and severe form of chronic malaria. This condition is a common cause of splenomegaly in endemic areas. The pathophysiology of hyper-reactive malarial splenomegaly involves an intense immune reaction (predominantly B cell-driven) to repeated/chronic infections with Plasmodium sp.

Severe acute pharyngotonsillitis due to herpes simplex virus type 2 in a young woman.

Whereas herpes simplex virus type 1 (HSV-1) is a recognized cause of acute oropharyngeal infection in young adults, HSV-2 infections are mostly associated with genital symptoms. We report a case of acute and prolonged febrile ulcerative pharyngotonsillitis with inflammatory syndrome which persisted despite antibiotic therapy for 8 days and required hospitalization in an 18-year old immune competent and sexually active female patient. HSV-2 was evidenced in tonsillar samples and blood by real time PCR, and HSV type-specific serology showed HSV-2 primary infection.

[The revolution of monoclonal antibodies in the treatment of thrombotic microangiopathy].

Thrombotic microangiopathies (TMA) define a syndrome characterized by the association of microangiopathic haemolytic anaemia with schistocytes, peripheral thrombocytopenia, and organ injury of variable severity. Thrombotic thrombocytopenic purpura (TTP) and atypical haemolytic uremic syndrome (HUS) are the main forms of TMA. Recent advances in the pathophysiology of those two diseases, which include in HUS the identification of a deregulation of the alternative complement pathway, and in TTP a severe deficiency in ADAMTS-13, allowed to develop specific, pathophysiology-based therapies.

Clinical outcome after a totally implantable venous access port-related infection in cancer patients: a prospective study and review of the literature.

Morbidity and mortality after a totally implantable venous access port (TIVAP)-related infection in oncology patients have rarely been studied. We conducted this study to assess the incidence and factors associated with the following outcome endpoints: severe sepsis or septic shock at presentation, cancellation of antineoplastic chemotherapy, and mortality at week 12. We conducted a prospective single-center observational study including all adult patients with solid cancer who experienced a TIVAP-related infection between February 1, 2009, and October 31, 2010.

[Intermittent prolonged fever triggered by efforts].

Introduction: Fever of unknown origin is a common reason for care in internal medicine. The wide variety of possible etiologies makes it difficult to standardize the diagnostic work-up that has to be primarily guided by the interview and physical examination.

Case Report: We report a case of prolonged fever having as main characteristics to be intermittent and triggered by efforts.

Efficacy and safety of first-line rituximab in severe, acquired thrombotic thrombocytopenic purpura with a suboptimal response to plasma exchange. Experience of the French Thrombotic Microangiopathies Reference Center.

Objective: To assess the efficacy and safety of rituximab in adults responding poorly to standard treatment for severe autoimmune thrombotic thrombocytopenic purpura.

Design: Open-label prospective study. Outcomes in the survivors were compared to those of 53 historical survivors who were given therapeutic plasma exchange alone or with vincristine.