Scurvy in an 18-month-old child mimicking a clinical presentation of rickets.

Scurvy is now considered to be a rare disease in European countries, even among children, but it still exists. We report the case of an 18-month-old boy who was initially hospitalized for a walking disorder and ultimately diagnosed with scurvy. Radiographs were compatible with rickets, but biological analysis ruled out this diagnosis.

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.

Mevalonate kinase deficiency: an updated clinical overview and revision of the SHARE recommendations.

Mevalonate kinase deficiency (MKD), a rare auto-inflammatory disorder, arises from mutations in the gene, disrupting isoprenoid biosynthesis, and affecting cellular processes. This comprehensive review provides an updated perspective on MKD, including its aetiology, pathogenesis, diagnostic modalities, and therapeutic strategies. Based on recent research and clinical advances, our objective is to bridge the knowledge gaps in the 2015 SHARE guidelines.

The value of hypothermia as a neuroprotective and antiepileptic strategy in patients with status epilepticus: an update of the literature.

Introduction: Status epilepticus represents a significant neurological emergency, with high morbidity and mortality rates. In addition to standard care, the identification of adjuvant strategies is essential to improve the outcome.

Areas Covered: The authors conducted a narrative review to provide an update on the value of hypothermia as an antiseizure and neuroprotective treatment in status epilepticus.

The place of JAK inhibitors in systemic juvenile idiopathic arthritis with lung disease (SJIA-LD): French experience.

Objectives: A new form of systemic juvenile idiopathic arthritis (SJIA) with associated lung disease (SJIA-LD) has recently been described. Multiple lines of treatment have failed to yield satisfactory results for this disorder. JAK inhibitors (JAKis) have recently been approved for the treatment of JIA, but clinical evidence of their efficacy in SJIA-LD is still weak.

Transition to Adult Care in Autoinflammatory Diseases: A Cohort of 111 French Patients.

Background: Transitioning from pediatric to adult care is a critical step for individuals with autoinflammatory diseases, requiring effective programs to ensure continuity of care and disease management. Despite various recommendations, the effectiveness of transition programs, particularly in monogenic autoinflammatory diseases, remains understudied.

Methods: A single-center medical records review study was conducted at the French National Reference Center for Adult Autoinflammatory Diseases in Tenon Hospital from 2017 to 2023.

Health literacy of patients consulting in an expert gynecological tertiary center: A pilot study.

Background: Previous studies have highlighted patients with chronic conditions seek for medical knowledge and therapeutics on their own. So far, no data exist on the health literacy of patients with gynecological conditions and especially those suffering from endometriosis, whose symptoms' have a major impact on their daily lives.

Method: The objective was to evaluate the health literacy of patients consulting in a referral expert center for the management of endometriosis and gynecological cancers.

Psychoeducation for Pathologic Narcissism and Narcissistic Personality Disorder: A Review and Proposal for a Good Psychiatric Management-based Six-week Group Program.

Pathologic narcissism (PN) and narcissistic personality disorder (NPD) are 2 common and stigmatized clinical constructs that are known to have large consequences for patients' functioning and mental health-related outcomes. To date, no treatment for these conditions has been empirically validated, but there is a relative consensus about the importance of psychoeducation. Here we present a model for a psychoeducational intervention for patients with PN or NPD.

Group intervention for family members of people with borderline personality disorder based on Dialectical Behavior Therapy: Implementation of the Family Connections® program in France and Switzerland.

Background: Families and significant others of people with borderline personality disorder (BPD) show increased levels of psychological distress. Family Connections®, a 12-week group intervention based on the principles of Dialectical Behavior Therapy, was designed to provide families with both information about the disorder and emotion regulation skills. It has been progressively implemented in French-speaking European countries.

EEG for good outcome prediction after cardiac arrest: A multicentre cohort study.

Aim: Assess the prognostic ability of a non-highly malignant and reactive EEG to predict good outcome after cardiac arrest (CA).

Methods: Prospective observational multicentre substudy of the "Targeted Hypothermia versus Targeted Normothermia after Out-of-hospital Cardiac Arrest Trial", also known as the TTM2-trial. Presence or absence of highly malignant EEG patterns and EEG reactivity to external stimuli were prospectively assessed and reported by the trial sites.

Assessment of phosphatemia at admission to the intensive care unit to predict mechanical ventilation among patients with acute exacerbation of chronic obstructive pulmonary disease: a retrospective cohort study.

Background: Hypophosphatemia has been reported to impair diaphragmatic function in patients with chronic obstructive pulmonary disease (COPD). However, little is known about the role of dysphosphatemia at admission [plasmatic phosphate concentration at intensive care unit (ICU) admission (T0-Ph)] to the ICU and respiratory outcomes among patients with severe acute COPD exacerbation. We aimed to assess the value of T0-Ph as a predictive factor of invasive mechanical ventilation (MV) during ICU stay.

NGS-based stratification refines the risk stratification in T-ALL and identifies a very-high-risk subgroup of patients.

We previously reported a better outcome in adult and pediatric T-cell acute lymphoblastic leukemia (T-ALL) harboring NOTCH1 and/or FBXW7 mutations without alterations of K-N-RAS and PTEN genes. Availability of high-throughput next-generation sequencing (NGS) strategies led us to refine the outcome prediction in T-ALL. Targeted whole-exome sequencing of 72 T-ALL-related oncogenes was performed in 198 adults with T-ALLs in first remission from the GRAALL-2003/2005 protocols and 242 pediatric patients with T-ALLs from the FRALLE2000T.

Unravelling the clinical heterogeneity of undefined recurrent fever over time in the European registries on Autoinflammation.

Background: Systemic autoinflammatory disorders (SAIDs) represent a growing spectrum of diseases characterized by dysregulation of the innate immune system. The most common pediatric autoinflammatory fever syndrome, Periodic Fever, Aphthous Stomatitis, Pharyngitis, Adenitis (PFAPA), has well defined clinical diagnostic criteria, but there is a subset of patients who do not meet these criteria and are classified as undefined autoinflammatory diseases (uAID). This project, endorsed by PRES, supported by the EMERGE fellowship program, aimed to analyze the evolution of symptoms in recurrent fevers without molecular diagnosis in the context of undifferentiated AIDs, focusing on PFAPA and syndrome of undifferentiated recurrent fever (SURF), using data from European AID registries.

Association between pathological narcissism and emotion regulation: The role of self-mentalizing?

Pathological narcissism (PN) is a common psychopathological issue leading to maladaptive strategies to cope with self-esteem threats, including self-enhancement and exploitation (grandiose strategies) or internalized shame, depression, and social withdrawal (vulnerable strategies). Mentalizing is a key process for regulating self and other representations and their associated emotions. Patients with PN further struggle with emotion dysregulation (ED), which during development is intertwined with the growing capacity to mentalize.

Physical fitness in adolescent patients with familial Mediterranean fever.

Introduction: Familial Mediterranean fever (FMF) is the most frequent monogenic auto-inflammatory disease worldwide responsible for episodes of fever, serositis and musculoskeletal symptoms. Inflammatory attacks are responsible for sedentary behavior and FMF patients may be at increased cardiovascular risk. Cardiorespiratory Fitness (CRF) and physical capacities during adolescence are associated with cardiovascular mortality in adulthood.