69 research outputs found
The Clinical Variability of Maternally Inherited Diabetes and Deafness Is Associated with the Degree of Heteroplasmy in Blood Leukocytes
Context: Maternally inherited diabetes and deafness (MIDD) is a rare form of diabetes with a matrilineal transmission, sensorineural hearing loss, and macular pattern dystrophy due to an A to G transition at position 3243 of mitochondrial DNA (mtDNA) (m.3243A>G). The phenotypic heterogeneity of MIDD may be the consequence of different levels of mutated mtDNA among mitochondria in a given tissue.
Objective: The aim of the present study was thus to ascertain the correlation between the severity of the phenotype in patients with MIDD and the level of heteroplasmy in the blood leukocytes.
Participants: The GEDIAM prospective multicenter register was initiated in 1995. Eighty-nine Europid patients from this register, with MIDD and the mtDNA 3243A>G mutation, were included. Patients with MELAS (mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes) or with mitochondrial diabetes related to other mutations or to deletions of mtDNA were excluded.
Results: A significant negative correlation was found between levels of heteroplasmy and age of the patients at the time of sampling for molecular analysis, age at the diagnosis of diabetes, and body mass index. After adjustment for age at sampling for molecular study and gender, the correlation between heteroplasmy levels and age at the diagnosis of diabetes was no more significant. The two other correlations remained significant. A significant positive correlation between levels of heteroplasmy and HbA1c was also found and remained significant after adjustment for age at molecular sampling and gender.
Conclusions: These results support the hypothesis that heteroplasmy levels are at least one of the determinants of the severity of the phenotype in MIDD.
Heteroplasmy levels are at least one of the determinants of the severity of the phenotype of maternally inherited diabetes and deafness
Neuropeptides, Trophic Factors, and Other Substances Providing Morphofunctional and Metabolic Protection in Experimental Models of Diabetic Retinopathy
Vision is the most important sensory modality for many species, including humans. Damage to the retina results in vision loss or even blindness. One of the most serious complications of diabetes, a disease that has seen a worldwide increase in prevalence, is diabetic retinopathy. This condition stems from consequences of pathological metabolism and develops in 75% of patients with type 1 and 50% with type 2 diabetes. The development of novel protective drugs is essential. In this review we provide a description of the disease and conclude that type 1 diabetes and type 2 diabetes lead to the same retinopathy. We evaluate existing experimental models and recent developments in finding effective compounds against this disorder. In our opinion, the best models are the long-term streptozotocin-induced diabetes and Otsuka Long-Evans Tokushima Fatty and spontaneously diabetic Torii rats, while the most promising substances are topically administered somatostatin and pigment epithelium-derived factor analogs, antivasculogenic substances, and systemic antioxidants. Future drug development should focus on these
Elaboration et validation d'une classification de la rétinopathie diabétique adaptée au dépistage par des photographies du fond d'oeil
La prise de photographies couleur numérisées du fond d'oeil grâce à un rétinographe non mydriatique par un personnel paramédical, puis leur interprétation de manière différée par un lecteur ophtalmologiste, s'impose actuellement comme la méthode de dépistage de la rétinopathie diabétique en France. Cependant, les modalités de ce dépistage doivent être validées. Le but de notre travail était d'élaborer puis de valider une classification de la rétinopathie diabétique adaptée aux trois photographies du fond d'oeil de dépistage, simple et reproductible, et de définir les stades de gravité de cette classification nécessitant d'adresser le patient à un ophtalmologiste. Cent soixante-treize yeux de 98 patients diabétiques ont été inclus dans l'étude. Tous les patients ont bénéficié de trois photographie du fond de l'oeil pour évaluer la classification de dépistage et d'un examen de référence. Notre classification de dépistage repose sur le nombre de microanévrismes et d'hémorragies rétiniennes présents sur les photographies et sur la localisation des exsudats secs par rapport au centre de la macula. Pour un stade de rétinopathie diabétique supérieur ou égal à celui de rétinopathie diabétique non proloférante modérée sur l'examen de référence, la sensibilité du dépistage était de 98.8% et la spécificité de 94%. La sensibilité du dépistage pour les oedèmes maculaires cliniquement significatifs était de 88% et la spécificité de 91%. Les corrélations inter-observateur des résultas étaient très bonnes (formule statistique kappa pondéré comprise entre 0.97 et 1). Les seuils chosis pour adresser le patient à un ophtalmologiste étaient ceux de rétinopathie diabétique non proliférante modérée et d'oedème maculaire. Ainsi, l'utilisation de cette classification de dépistage pourrait permettre d'améliorer la qualité du dépistage de la rétinopathie diabétique en France en rendant l'interprétation de l'examen de dépistage plus fiable et reproductible.ROUEN-BU Médecine-Pharmacie (765402102) / SudocPARIS-BIUM (751062103) / SudocSudocFranceF
Submacular fluid after encircling buckle surgery for inferior macula-off retinal detachment in young patients.
PURPOSE: Characterization of persistent diffuse subretinal fluid using optical coherence tomography (OCT) after successful encircling buckle surgery for inferior macula-off retinal detachment in young patients.
METHODS: Institutional retrospective review of six young patients (mean age 31 +/- 6 years; five female, one male) with spontaneous inferior rhegmatogenous macula-off retinal detachment. All patients were treated with encircling buckle surgery and five out of six underwent additional external drainage of subretinal fluid. Mean follow-up was 37 +/- 25 months (range 17-75 months) and included complete ophthalmic and OCT examination.
RESULTS: At 6 months, 100% of patients showed persistence of subretinal fluid on OCT. Four patients had diffuse fluid accumulation, whereas two patients showed a 'bleb-like' accumulation of fluid. This fluid was present independent of whether or not patients had been treated with external fluid drainage. Subretinal fluid only started to disappear on OCT between 6 and more than 12 months after surgery.
CONCLUSION: Young patients with inferior macula-off retinal detachments and a marginally liquefied vitreous may show persisting postoperative subclinical fluid under the macula for longer periods of time than described previously
Morphometric analysis of fovea with spectral-domain optical coherence tomography and visual outcome postsurgery for retinal detachment
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