[Epidemiology of systemic lupus erythematosus in Reunion Island, Indian Ocean: A case-series in adult patients from a University Hospital]. / Caractéristiques du lupus érythémateux systémique à La Réunion : étude rétrospective en population adulte au CHU de Saint-Denis.

OBJECTIVES: The study aimed at assessing the epidemiology and clinical features of systemic lupus erythematosus (SLE) in Reunion Island, South West of Indian Ocean. PATIENTS AND METHODS: A retrospective study was conducted at the University Hospital of La Reunion (Saint-Denis) by charts review from 2004 to 2015. Patients with a SLE diagnosed over 15 years according to SLICC 2012 criteria were included. Incidence and prevalence were inferred from national health insurance database and population census results. RESULTS: In total, 123 patients met inclusion criteria: 116 were women (94%) and mean age at diagnosis was 34.7±13.4 years. Ten percent of all patients had a least one parent with autoimmune disease, and 4% with lupus. The main manifestations were musculoskeletal (89%) and mucocutaneous with acute or subacute lesions (76%), alopecia (25%), ulcers (15%) and discoid lupus (11%). Lupus nephropathy occurred in 39%, serositis in 31% and neurological features in 15%. Antinuclear antibodies were positive in 99% (threshold >1/80), and associated to anti-DNA (70%), anti-SSA (47%), anti-RNP (42%), and anti-Sm (37%). APL syndrome was diagnosed in 15%. The average annual standardized incidence between 2010 and 2016 was 6.3 cases per 100,000 inhabitants (95% confidence interval [CI]: 5.6-6.9). The prevalence was 76 cases per 100,000 inhabitants in 2016 (95% CI: 70-82). CONCLUSION: Lupus in the multi-ethnic population of Reunion Island is characterized by high incidence and high rates of articular and renal manifestations, as well as anti-ENA antibodies.

[Hepatic localization of cat scratch disease in an immunocompetent patient]. / Localisation hépatique de la maladie des griffes du chat chez un immunocompétent.

INTRODUCTION: The cat-scratch disease is a benign inoculation disease and a well-known cause of localized lymphadenopathy. Visceral localizations are rare and occur mostly in immunocompetent patients. CASE: We report the case of a 57-year-old-man with lymphadenopathy of the right arm with hepatic nodules related to a Bartonella henselae infection. CONCLUSION: The cat-scratch disease must be screened for in case of hepatic and/or splenic nodules. A cause of immunodeficiency should be investigated.

Factor VIII (FVIII) gene mutations in 120 patients with hemophilia A: detection of 26 novel mutations and correlation with FVIII inhibitor development.

BACKGROUND: As the publication of the sequence of the factor VIII gene (FVIII) in 1984, a large number of mutations that cause hemophilia A (HA) have been identified. Thanks to the advances in the detection of mutations, it is now possible to identify a putative FVIII sequence alteration in the vast majority of patients with HA. OBJECTIVES: Our main objective was to report on the spectrum of FVIII mutations and their distribution throughout the gene in 120 patients with HA. METHODS: Screening of FVIII mutations was performed using direct sequencing. Newly described missense mutations were further studied by molecular modeling. RESULTS: A total of 47 different HA causative FVIII mutations have been identified, 26 of which are described for the first time. These novel mutations include 14 missense and six nonsense mutations, two small deletions, one large deletion and three splice-site mutations. We further investigated the development of FVIII-specific inhibitors in all patients with HA. We found that four novel mutations (Ser882X, Tyr1786Ser, Ala2218Thr and a splice-site defect in intron 22) were associated with inhibitor development. CONCLUSION: These data extend our insight into the mechanisms by which novel amino acid substitutions may lead to HA, and how HA patient genotypes influence the risk of FVIII inhibitor development.

[Pneumococcal septic arthritis revealing a multiple myeloma]. / Arthrite à pneumocoque révélant un myélome.

INTRODUCTION: The most common presenting features of multiple myeloma are bone pain, anemia, renal failure or hypercalcemia. Bacterial infection as the initial presentation of this desease is rare. CLINICAL CASE: We report the case of a 62-year-old man with pneumococcal septic arthritis of the knee revealing a multiple myeloma. DISCUSSION: Pneumococcal infection should lead to a suspicion of underlying illness and especially the multiple myeloma.

[Epidemiology and prevention of malaria in the southwestern islands of the Indian Ocean]. / Epidémiologie et prévention du paludisme dans les iles du sud-ouest de l'Océan Indien.

Malaria epidemiology differs greatly in the geographically close islands of the southwestern Indian Ocean. In Madagascar and the Comoros Union malaria is still a major public health problem. In Mayotte indigenous transmission resumed in 1995 and is currently high in some communities. In the Mascarene Islands (Reunion and Mauritius), indigenous transmission has been eradicated (Reunion) or become rare (Mauritius). The Seychelles Islands are malaria-free since local conditions are unfavorable for Anopheles mosquitoes. The level of resistance to antimalarials also differs from one island to another. Resistance to chloroquine ranges from moderate in Madagascar to high in the Comoros Union. Health recommendations for travelers must be adapted to the epidemiological features on each island.