Liver Disease Complicating Familial Mediterranean Fever: A Study on 66 Patients Out of 533 Adult From the JIR Cohort.

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.

A deep dive into future therapies for microcytic anemias and clinical considerations.

Introduction: Microcytic anemias (MA) have frequent or rare etiologies. New discoveries in understanding and treatment of microcytic anemias need to be reviewed.

Areas Covered: Microcytic anemias with a focus on the most frequent causes and on monogenic diseases that are relevant for understanding biocellular mechanisms of MA.

Role of Caspase-10-P13tBID axis in erythropoiesis regulation.

Red blood cell production is negatively controlled by the rate of apoptosis at the stage of CFU-E/pro-erythroblast differentiation, depending on the balance between erythropoietin (EPO) levels and activation of the Fas/FasL pathway. At this stage, activation of transient caspases through depolarization via mitochondrial outer membrane permeabilization (MOMP) is also required for terminal erythroid differentiation. Molecular mechanisms regulating the differential levels of MOMP during differentiation and apoptosis, however, remain poorly understood.

Whole-Body Vibration Associated with Strength Training on the Lower-Limb Blood Flow and Mobility in Older Adults with Type 2 Diabetes: A Study Protocol for a Randomized Controlled Trial.

Vascular endothelium insults caused by high serum glucose levels affect the oxygen supply to tissues, via the microvascular endothelium, resulting in an increased perfusion heterogeneity. These insults may lead to the underuse of blood capillaries, while other vessels are overused and effectively overload their oxygen supply capacity, which eventually causes damages to distal parts of the peripheral nervous system. Therefore, the proprioceptive and exteroceptive feedback information will be gradually lost and contribute to a mobility reduction.

Inflammasome activation: from molecular mechanisms to autoinflammation.

Inflammasomes are assembled by innate immune sensors that cells employ to detect a range of danger signals and respond with pro-inflammatory signalling. Inflammasomes activate inflammatory caspases, which trigger a cascade of molecular events with the potential to compromise cellular integrity and release the IL-1β and IL-18 pro-inflammatory cytokines. Several molecular mechanisms, working in concert, ensure that inflammasome activation is tightly regulated; these include NLRP3 post-translational modifications, ubiquitination and phosphorylation, as well as single-domain proteins that competitively bind to key inflammasome components, such as the CARD-only proteins (COPs) and PYD-only proteins (POPs).

AA amyloidosis complicating cryopyrin-associated periodic syndrome: a study of 86 cases including 23 French patients and systematic review.

Objective: Cryopyrin-associated periodic syndrome (CAPS) is a rare but treatable inherited autoinflammatory condition including familial cold autoinflammatory syndrome (FCAS), Muckle-Wells syndrome (MWS) and chronic infantile neurologic cutaneous articular syndrome (CINCA). Our objective was to describe the main features of CAPS AA amyloidosis (AA-CAPS) associated and the efficacy of IL-1 inhibitors in this indication.

Methods: Retrospective study in France associated with a systematic literature review.

Effectiveness of Whole-Body Vibration Combined with Multicomponent Training on the Risk of Falls and Quality of Life in Elderly Women with Osteoporosis: Study Protocol for a Randomized Controlled Clinical Trial.

Osteoporosis and the risk of falls increase the risk of fractures and events of falls. Prescriptions and programs for different forms of exercise have different impacts on the risk of falls, and exercises from multiple categories of whole-body vibration can be effective. This study aims to evaluate the effectiveness of whole-body vibration (WBV) protocol combined with multicomponent training (MCT) in elderly women with osteoporosis and their history of falls.

Tumour necrosis factor receptor-1 associated periodic syndrome (TRAPS)-related AA amyloidosis: a national case series and systematic review.

Objectives: TNF receptor-1-associated periodic syndrome (TRAPS) is a rare autosomal dominant autoinflammatory disorder associated with mutations in the TNF receptor super family 1 A (TNFRSF1A) gene. AA amyloidosis (AA) is the most severe complication of TRAPS. To study the occurrence and prognosis of AA in TRAPS, we conducted a retrospective study of all French cases and a systematic literature review.

Inflammasome inhibition under physiological and pharmacological conditions.

Inflammasomes are key regulators of the host response against microbial pathogens, in addition to limiting aberrant responses to sterile insults, as mediated by environmental agents such as toxins or nanoparticles, and also by endogenous danger signals such as monosodium urate, ATP and amyloid-β. To date at least six different inflammasome signalling platforms have been reported (Bauernfeind & Hornung, EMBO Mol Med. 2013;5:814-26; Broz & Dixit, Nat Rev Immunol.

Methotrexate-induced Primary Cutaneous Diffuse Large B-cell Lymphoma in Patients with Erythrodermic Cutaneous T-cell Lymphoma.

is missing (Short communication).

AA amyloidosis revealing mevalonate kinase deficiency: A report of 20 cases including two new French cases and a comprehensive review of literature.

Introduction: Mevalonate kinase deficiency (MKD) is a rare autosomal recessive autoinflammatory disease that can lead to an inflammatory A amyloidosis (AA).

Methods: To study the occurrence of AA in MKD patients we performed a systemic review of the literature and described two novel patients.

Results: Amyloidosis occurred in 20 MKD patients, renal impairment being always the revealing symptom of AA.

Thoracic aorta involvement in giant cell arteritis: a case-control analysis of morphological data at diagnosis.

Objectives: Giant cell arteritis (GCA) is a cause of potentially fatal aortic aneurysms. Descriptive data on thoracic aorta measurements at the beginning of the disease are lacking. We aimed to compare aortic diameters between a recently diagnosed GCA population and an age- and sex-matched control group.

A single whole body vibration session influences quadriceps muscle strength, functional mobility and balance of elderly with osteopenia and/or osteoporosis? Pragmatic clinical trial.

Background: The purpose of this study verify the immediate effect of whole body vibration (WBV) on quadriceps muscle strength, functional mobility and balance in elderly patients with Osteopenia and/or Osteoporosis.

Methods: This was a randomized pragmatic clinical trial with 34 elderly (32 women) randomly assigned to two groups: the experimental group (EG;  = 17) who underwent low-frequency (16 Hz) WBV and the control group (CG; n = 17) who performed the walk. Outcome measures were: quadriceps muscle strength measured by a maximal repetition test (1RM); functional mobility assessed by the Timed Up and Go (TUG) test and balance assessed by the Berg Balance Scale (BBS).

Autoinflammatory diseases: State of the art.

Autoinflammatory diseases are characterized by innate immunity abnormalities. In autoinflammatory diseases (AID), inflammatory blood biomarkers are elevated during crisis without infection and usually without autoantibodies. The first 4 described AID were familial Mediterranean fever, cryopyrin-associated periodic fever syndrome (CAPS) or NLRP3-associated autoinflammatory disease (NRLP3-AID), mevalonate kinase deficiency (MKD) and TNFRSF1A-receptor associated periodic fever syndrome (TRAPS).