La Revue de medecine interne最新文献

The VEXAS syndrome, whose phenotype has been extensively described in recent years, is now beginning to unveil the secrets of its pathophysiology. For those who tend to keep a respectful distance from basic science papers, Immuno'logical offers a guided dive into two recent fascinating publications, that challenge several long-held assumptions: no, VEXAS is not merely a myeloid disorder; no, UBA1-wild-type cells are not blameless in systemic inflammation; and no, UBA1-mutated progenitors do not owe their clonal dominance to uncontrolled proliferation. To understand it all, we will decode ubiquitination, single-cell RNA-sequencing, and clonal expansion - thoroughly but without unnecessary complexity - to uncover the hidden gems within these studies. In short, let's be serious without taking ourselves too seriously, and explore the hidden side of VEXAS syndrome.

Introduction: Many women of childbearing age are being treated for chronic conditions that require long-term medication. We assessed the knowledge of women being treated in internal medicine and clinical immunology, regarding the impact of their disease and specific treatments on a potential pregnancy.

Methods: Between September 1st, 2019, and November 1st, 2020, in four hospitals in the Poitou-Charentes region, a questionnaire was given to every woman aged 18 to 44 who came in for an internal medicine and clinical immunology consultation for the follow-up of a chronic systemic disease. Women who were already pregnant or breastfeeding were excluded.

Results: One hundred and ten women were included. Lupus was the most common condition (29%). Knowledge of follow-up was adequate for 38%, 58%, and 86% of women with vasculitis, connective tissue disease or sickle cell disease, respectively. Regarding treatments, responses were correct for 71% of contraindicated treatments and 41% of authorized treatments. Knowledge was no better among women who wanted to become pregnant (correct answers for treatments: 34%) or among women who were not using contraception and did not want to become pregnant (correct answers for treatments: 50%). Only half of the women reported having received information on the subject from a healthcare professional.

Conclusion: Essential information on maternal and fetal safety is not properly understood by women of childbearing age, nor is it sufficiently communicated by healthcare professionals. It seems important to strengthen the questioning process and inform patients about the risks to mothers and fetuses.

Interstitial lung disease (ILD) is a frequent and potentially life-threatening complication of systemic sclerosis, affecting 40 to 50% of patients. Systematic screening with high-resolution computed tomography and pulmonary function tests (PFTs), including DLCO, is recommended at diagnosis. ILD may be present even in patients with normal PFTs. Prognosis depends on the initial extent of ILD, assessed by imaging and forced vital capacity (FVC). Current guidelines (PNDS, ACR/CHEST, EULAR) recommend a personalized management approach based on progression risk. Mycophenolate mofetil (MMF) is considered the first-line treatment. Rituximab (RTX), evaluated in several trials, has shown a favorable effect on FVC stabilization or improvement. Tocilizumab has also demonstrated a slowing of FVC decline in ILD subgroups in two randomized trials, although the primary endpoint based on the modified Rodnan skin score was negative. Nintedanib demonstrated efficacy in the SENSCIS trial by significantly reducing the annual rate of FVC decline, including in patients receiving MMF. In cases of disease progression despite appropriate initial treatment, hematopoietic stem cell transplantation or a combination of MMF and RTX may be considered. Lung transplantation can be an option for refractory forms. A comprehensive approach including oxygen therapy, pulmonary rehabilitation, and infection prophylaxis is essential.

Juvenile idiopathic arthritis (JIA) is characterised by arthritis onset before the age of 16, persisting for at least 6weeks without a known cause. Symptoms include joint swelling, inflammatory pain (worse at night and in the morning), or also back, heel, or buttock pain. Timely diagnosis and referral to a paediatric rheumatologist are crucial to reduce errors, invasive procedures, and long-term complications. Around 5000 children under 16 are affected by JIA in France. The current international classification recognises 7 subgroups: the systemic form, oligoarthritis, polyarthritis without rheumatoid factor, polyarthritis with rheumatoid factor (juvenile rheumatoid arthritis), enthesitis associated with JIA (juvenile spondyloarthropathy), JIA associated with psoriasis and undifferentiated JIA. A new classification divides JIA into 5 groups: the systemic form, early-onset oligo- and polyarthritis with anti-nuclear antibodies (associated with a risk of chronic anterior uveitis), polyarthritis with rheumatoid factor, juvenile spondyloarthropathy and non-groupable forms. JIA management involves a multidisciplinary team led by a paediatric rheumatologist, using targeted therapies (biologics, small molecules) and numerous health professionals (physiotherapist, occupational therapist, etc.), improving overall outcomes. Physicians (paediatricians or general practitioners) play a vital role in overall management, ensuring treatment compliance, monitoring effectiveness, and managing infection risks. This includes updating vaccination schedules and addressing febrile episodes. We present recent international recommendations including the "treat-to-target" approach, consisting in setting precise objectives at the beginning and during the evolution, which involves regularly assessing the patient's situation to adapt treatments, control inflammation and disease complications, limit the toxicity of treatments. This strategy aims to achieve, ideally in a few months an inactive disease or complete remission. Regarding systemic JIA (or pediatric Still's disease), we pay attention to particularly severe clinical forms in very young children, which may be life-threatening by major activation of the immune system (macrophage activation syndrome) or secondary pulmonary involvement. For non-systemic forms, i.e. oligoarthritis, polyarthritis, enthesitis related JIA (or juvenile spondylarthropathies) and JIA associated with psoriasis, we specify the state of current knowledge and uncertainties regarding prognosis and therapeutic choices.

Introduction: The role of internal medicine departments in the management of chronic diseases in older patients with more comorbidities is a topical issue.

Methods: For each internal medicine department of the Lyon University Hospital (North, Centre and South Hospices Civils de Lyon Hospital Group), Programme de médicalisation des systèmes d'information (PMSI) activity report data were used, with the number of medical unit summary (RUM) and standardised discharge summary (RSS) stays for 4 consecutive years from 2018 to 2022.

Results: Activity increased in the three internal medicine departments in outpatient day hospital activity, the rest of the activity remained stable. The rate of admissions via emergency units was multiplied by 3, with an increase in discharges to rehabilitation services. The death rate doubled. The average age increased to 68, with an increase in the Charlson score comorbidity index to 2, independently of age, and in the percentage of stays with severity 3 and 4.

Conclusion: Analysis of data on conventional inpatient care in internal medicine at Lyon University Hospital shows a major qualitative change, with older patients with more comorbidities and higher severity stay profiles, leading to an increase in the number of inpatient deaths, and greater use of rehabilitation units.

Introduction: The syndrome H is a rare autosomal recessive genetic disorder first described in 2008, caused by SLC29A3 gene mutations. It presents with variable cutaneous, joint, auditory, vascular, and hematologic features.

Observation: A 24-year-old man with recently diagnosed syndrome H presented with hyperpigmented patches on the lower abdomen and legs, sparing the joints, and splayed toe deformities. CT imaging revealed agenesis of the hepatic segment of the inferior vena cava (IVC) with a left-sided aberrant IVC draining via the azygos system into the superior vena cava. Inguinal lymphadenopathy and mild hepatomegaly were also noted. Lab results were normal. Skin biopsy confirmed dermal fibrosis with perivascular infiltrate.

Conclusion: This case illustrates the clinical variability of the syndrome H and the value of imaging in detecting rare vascular malformations such as IVC interruption, reported in only two other cases. Management is symptomatic, with a multidisciplinary approach and genetic counseling.