25-GAUGE VERSUS 27-GAUGE VITRECTOMY FOR MANAGEMENT OF VITREORETINAL DISEASES: A Large Prospective Randomized Trial.

PURPOSE: To compare the safety and performance clinical outcomes of the 27-gauge (G) two-dimensional cutting vitrectomy probe versus a standard 25-G probe for retinal procedures. METHODS: In this large randomized prospective study, all candidates for epiretinal membrane or macular hole surgery were randomized to the 27-G group or 25-G group. Outcome measures included surgery time, changes in best-corrected distance visual acuity, intraocular pressure, and central macular thickness between baseline and 1-month and 3-month follow-up time points. Moreover, intraoperative and postoperative complications were evaluated as well as the rate of sutureless vitrectomy. RESULTS: A total of 463 patients were included in this study, 227 patients in the 27-G group and 236 patients in the 25-G group. A similar total surgery time was found between both groups ( P = 0.0911). Similar best-corrected distance visual acuity and central macular thickness changes were observed between baseline and the 1-month and 3-month follow-up visits. No significant differences were reported in intraoperative and postoperative complications rates. The rate of sutureless vitrectomy was 96.5% for the 27-G group and 91.1% for the 25-G group ( P = 0.0170). CONCLUSION: These results suggest that 27-G vitrectomy probe is similar to 25-G probe in surgery time and complications, while decreasing the need for vitrectomy sutures.

Wolfram syndrome in a young woman with associated hypergonadotropic hypogonadism - A case report.

OBJECTIVES: Wolfram syndrome (WFS) is a rare neurodegenerative disease. Clinical diagnosis is made when nonautoimmune insulin-dependent diabetes is found to be associated with bilateral optic atrophy in a patient early in life. Frequent associations include diabetes insipidus, diabetes mellitus, optic atrophy and deafness. Many other multisystemic associations have been described including menstrual irregularities in female and hypogonadism in male patients. CASE PRESENTATION: We present a first case of WFS associated with hypergonadotropic hypogonadism in a female adolescent diagnosed with WFS both clinically and genetically. Other causes of premature ovarian insufficiency (POI) have been excluded. CONCLUSIONS: This case report shows the importance of gonadal function assessment and follow-up in time for both genders.

Genetic landscape of a large cohort of Primary Ovarian Insufficiency: New genes and pathways and implications for personalized medicine.

BACKGROUND: Primary Ovarian Insufficiency (POI), a public health problem, affects 1-3.7% of women under 40 yielding infertility and a shorter lifespan. Most causes are unknown. Recently, genetic causes were identified, mostly in single families. We studied an unprecedented large cohort of POI to unravel its molecular pathophysiology. METHODS: 375 patients with 70 families were studied using targeted (88 genes) or whole exome sequencing with pathogenic/likely-pathogenic variant selection. Mitomycin-induced chromosome breakages were studied in patients' lymphocytes if necessary. FINDINGS: A high-yield of 29.3% supports a clinical genetic diagnosis of POI. In addition, we found strong evidence of pathogenicity for nine genes not previously related to a Mendelian phenotype or POI: ELAVL2, NLRP11, CENPE, SPATA33, CCDC150, CCDC185, including DNA repair genes: C17orf53(HROB), HELQ, SWI5 yielding high chromosomal fragility. We confirmed the causal role of BRCA2, FANCM, BNC1, ERCC6, MSH4, BMPR1A, BMPR1B, BMPR2, ESR2, CAV1, SPIDR, RCBTB1 and ATG7 previously reported in isolated patients/families. In 8.5% of cases, POI is the only symptom of a multi-organ genetic disease. New pathways were identified: NF-kB, post-translational regulation, and mitophagy (mitochondrial autophagy), providing future therapeutic targets. Three new genes have been shown to affect the age of natural menopause supporting a genetic link. INTERPRETATION: We have developed high-performance genetic diagnostic of POI, dissecting the molecular pathogenesis of POI and enabling personalized medicine to i) prevent/cure comorbidities for tumour/cancer susceptibility genes that could affect life-expectancy (37.4% of cases), or for genetically-revealed syndromic POI (8.5% of cases), ii) predict residual ovarian reserve (60.5% of cases). Genetic diagnosis could help to identify patients who may benefit from the promising in vitro activation-IVA technique in the near future, greatly improving its success in treating infertility. FUNDING: Université Paris Saclay, Agence Nationale de Biomédecine.