The AflibeRcept use in rEal life study for the treatment of diabetiC macular oedema In the French overseas territories: A 12 months follow-up Study - The RECIF Study.

PURPOSE: The incidence and severity of diabetes is particularly high in the French overseas territories (FOT). The RECIF study evaluated real life management of diabetic macular oedema (DME) treated by aflibercept in FOT. METHODS: A prospective, noncomparative, multicentric, non-interventional, study that evaluated functional and anatomical results of patients treated by aflibercept. Twelve retina specialists working in French Polynesia, La Reunion, Guadeloupe and Martinique participated in the study. RESULTS: 67 eyes of 57 patients were followed for 12 months. Average VA gain was 7.8 ETDRS letters. 29.9% of eyes gained at least 15 letters, 6% lost 15 letters or more. 67.2% of eyes achieved visual acuity of 70 letters or better. Average central retinal thickness decrease was 115.3 µm. The mean number of injections during the 1st year of treatment was 4.9. 69% of eyes had a loading dose of at least three-monthly injections. 3 eyes were switched to steroid injections during the follow-up for lack of efficacy. CONCLUSION: This study confirmed the efficacy of intravitreal treatment of DME by aflibercept, in the French overseas territories. This evaluation of real-life management of DME underlines the importance of improvement of patient education and collaboration with referring physicians.

A new XPC gene splicing mutation has lead to the highest worldwide prevalence of xeroderma pigmentosum in black Mahori patients.

Xeroderma pigmentosum (XP) is a rare, recessive disease characterized by sunlight hypersensitivity and early appearance of cutaneous and ocular malignancies. We report the first description of a very high incidence (around 1/5000) of black XP patients in the Mayotte population in the Indian Ocean. Among a cohort of 32 XP, we describe the clinical and genetic features of 18 living Comorian black XP patients. We discuss the remarkable clinical differences between white and black XPs. Skin and ocular abnormalities are remarkably precocious and severe XP phenotypes are recognized by the early ocular injuries. In our cohort, the first skin cancer appeared at a median age of 4.5 years with no neurological symptoms. Post-UV DNA repair, cell survival and genetic complementation assigned these patients to the XP group C. All patients exhibited a new G→C homozygous substitution at 3'-end of XPC intron 12 (IVS 12-1G>C) leading to the abolition of an acceptor splicing site and the absence of the XPC protein. We found 3 different mRNA isoforms: one with retention of intron 12, one showing exon 13 skipping, and a third with a 44bp deletion in exon 13. These 3 isoforms were differently expressed in XP-C cells compared to normal cells. This new mutation found in the Comorian islands, where consanguinity is frequent, represents a founder effect, with an estimated age of about 770 years. Due to the African origin of the black XPs from Mayotte, it would be valuable to search for this mutation in African XPs whenever possible.

Quantitative measurement of lipoprotein particles containing both apolipoprotein AIV and apolipoprotein B in human plasma by a noncompetitive ELISA.

BACKGROUND: A reliable method for plasma would be useful to investigate the role of apolipoprotein (apo) AIV when associated with apo B-containing or triglyceride-rich lipoproteins. METHOD: We used a sandwich ELISA to quantify lipoprotein B:AIV particles (Lp B:AIVf; lipoproteins containing at least apo B and apo AIV) in plasma. The method used microtiter plates coated with purified anti-apo B immunoglobulins that selectively retained apo B-containing particles. Lipoproteins containing both apo B and apo AIV were distinguished from those containing only apo B by use of a peroxidase-labeled anti-apo AIV antibody. These subspecies were revealed by ABTS reagent and further quantified by spectrophotometry. Results were expressed in mg/L apo AIV associated with apo B. This method was applied to samples with different cholesterol and triglyceride concentrations. RESULTS: The developed sandwich ELISA method identified and quantified Lp B:AIVf in plasma samples. Within- and between-run CVs were approximately 10%, and analytical recoveries were 95-107%. Results were not significantly influenced by addition of triglycerides or by storage at -20 degrees C (up to 9 months). Under these conditions, plasma Lp B:AIVf concentrations were statistically higher in hypercholesterolemic and mixed hyperlipidemic individuals (53 +/- 13 mg/L; P <0.001 and 70 +/- 18 mg/L; P <0.001, respectively) than in normolipidemic individuals (43 +/- 12 mg/L). Lp B:AIVf concentration appeared to be well correlated with total cholesterol, triglycerides, LDL-cholesterol, and apo B. These results were in contrast to total apo AIV, which was not different between dyslipidemic and normolipidemic individuals. CONCLUSIONS: The developed ELISA method for Lp B:AIVf in plasma combines specificity, reliability, and speed. The increase in Lp B:AIVf concentrations in various dyslipidemic states, together with a lack of change in total apo AIV concentrations, suggests a redistribution of apo AIV toward apo B-containing lipoproteins when these lipoproteins accumulate.