Publications by authors named "Bourguiba Rim"
Background: Familial Mediterranean fever (FMF) is the most common monogenic autoinflammatory disease, associated with MEFV mutations. FMF patients can experience liver involvement, potentially leading to cirrhosis.
Objectives: This study aimed to evaluate liver involvement in FMF patients at a French tertiary centre for adult FMF.
Background: Ankylosing Spondylitis is a chronic inflammatory rheumatic disease with both articular and extra-articular features. While cardiovascular involvement in Ankylosing spondylitis is rare, it can be life-threatening. This condition is typically associated with the HLAB27 antigen and often presents in the advanced stages of the disease.
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- A study on European FMF patients found that 20% experienced a diagnostic delay of over 10 years, with affected individuals being significantly older.
- Women were more likely to have this diagnostic delay compared to men, and specific symptoms like erysipelas-like erythema were more prevalent in delayed diagnosis cases.
- Delayed-diagnosis patients also had higher occurrences of AA amyloidosis and were more frequently treated with biotherapy, indicating more severe disease consequences.
Vitamin B12 deficiency is widely recognized as a common cause of anemia. However, symptoms such as dysphagia, melanoderma, and pancytopenia, although less frequent, can also be associated with this deficiency. We report the case of a 47-year-old Caucasian man presented with dysphagia to solids associated to high heart rate, dyspnea and melanoderma.
View Article and Find Full Text PDFObjectives: Vacuoles, E1 enzyme, X-linked, autoinflammatory and somatic (VEXAS) syndrome is an adult-onset autoinflammatory disease associated with somatic ubiquitin-like modifier-activating enzyme 1 (UBA1) mutations. We aimed to evaluate the efficacy and safety of targeted therapies.
Methods: Multicentre retrospective study including patients with genetically proven VEXAS syndrome who had received at least one targeted therapy.
Objectives: VEXAS syndrome is an autoinflammatory disease associated with a somatic mutation of the X-linked UBA1 gene in haematopoietic progenitor cells. This disorder was originally described as a disease affecting men, but rare cases of VEXAS syndrome in women have since been reported. The theoretical existence of phenotypic sex differences in this X-linked disease is debated.
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- VEXAS syndrome is a poorly understood, acquired autoinflammatory disease linked to serious infections, highlighting significant risks for susceptible patients.
- A study of 74 patients revealed that the most frequent infection sites were the lungs, skin, and urinary tract, with a notable microbiological confirmation rate.
- Key risk factors for serious infections included age over 75, specific genetic mutations, and treatment with JAK inhibitors, with 36% of patients dying during the study, often due to these severe infections.
Background: Familial Mediterranean Fever (FMF) is the most frequent monogenic autoinflammatory disease (AID). Some patients have persistent symptoms despite colchicine intake. Mast cells (MC) are innate immune cells involved in inflammatory conditions including AID.
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- - AA amyloidosis results from excess deposits of Serum Amyloid A (SAA) protein, often complicating chronic inflammatory diseases such as rheumatoid arthritis and tuberculosis, with the most commonly affected organ being the kidneys, leading to symptoms like edema and proteinuria.
- - Diagnosis involves detecting amyloid deposits via biopsy with Congo Red staining and confirming with immunohistochemical analysis. Peripheral inflammatory biomarkers like C Reactive protein can also aid in diagnosis.
- - Treatment focuses on addressing the underlying chronic condition to lower SAA levels, with options like dialysis or kidney transplant available for renal failure; however, there are currently no specific treatments for the amyloid deposits themselves.
Background: The vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome is a newly identified autoinflammatory disorder related to somatic UBA1 mutations. Up to 72% of patients may show lung involvement.
Research Question: What are the pleuropulmonary manifestations in VEXAS syndrome?
Study Design And Methods: One hundred fourteen patients were included in the French cohort of VEXAS syndrome between November 2020 and May 2021.
Familial Mediterranean fever (FMF) patients may have hepatic cytolysis, although its origin is not formally elucidated. We aimed to evaluate liver involvement in familial Mediterranean fever (FMF) using non-invasive methods. All adult FMF patients harboring two non-ambiguous mutations of the MEFV gene with hepatic cytolysis were identified in a French tertiary adult center for FMF.
View Article and Find Full Text PDFObjective: There is little known about SARS-CoV-2 infection in patients with systemic autoinflammatory disease (SAID). This study aimed to describe epidemiological features associated with severe disease form and death. Mortality between patients with and without SAID hospitalised for SARS-CoV-2 infection was compared.
View Article and Find Full Text PDFIntroduction: Familial Mediterranean Fever (FMF), the most common monogenic auto-inflammatory disease, is characterized by recurrent febrile abdominal pain. Helicobacter pylori infection (HPI), one of the most frequent infections worldwide, can mimic an FMF attack.
Objectives: Identify FMF patients with HPI in a cohort of French FMF patients and the literature and identify features allowing to distinguish HPI from an FMF attack.