RESUMO
PURPOSE: Leber's hereditary optic neuropathy (LHON) presents in early adulthood with painless progressive blindness of one or both eyes. Usually there is a positive family history of similar disease on the maternal side. Definitive diagnosis can be established by finding the change in the mitochondrial gene. No molecular studies have been reported from India. MATERIAL AND METHODS: Clinical, ophthalmologic and molecular studies were carried out in two patients from different families and available first degree relatives. The subjects were tested for the three common mutations seen in LHON by molecular techniques of polymerase chain reaction using mutation specific primers. RESULTS: The mutations G3460A and G11778A in the mitochondrial genes MTND1 and MTND4, known to be causative for LHON, were found in one family each. CONCLUSION: Diagnosis of LHON should be considered in familial cases and in young adults with optic atrophy. Confirmation of diagnosis should be sought by molecular gene analysis. Genetic counselling should be offered to all 'at risk' relatives of a patient harbouring the mutation.
Assuntos
Adolescente , DNA Mitocondrial/genética , Humanos , Índia , Masculino , Mutação , NADH Desidrogenase/genética , Atrofia Óptica Hereditária de Leber/diagnóstico , Linhagem , Reação em Cadeia da PolimeraseAssuntos
Abscesso/diagnóstico , Adulto , Túnica Conjuntiva/patologia , Doenças da Túnica Conjuntiva/diagnóstico , Cisticercose/diagnóstico , Diagnóstico Diferencial , Infecções Oculares Parasitárias/diagnóstico , Humanos , Masculino , Doenças Orbitárias/diagnóstico , Tomografia Computadorizada por Raios XRESUMO
The management of cases with common canalicular obstruction poses a difficult problem. Nineteen patients presenting with common canalicular obstruction of unknown cause or in association with trauma, encysted mucocoele and previous sac surgery, were operated on by the modified canaliculodacryocystorhinostomy technique. The surgery involves a microsurgical dissection at the site of the common canalicular obstruction followed by anastomosis to the sac or nasal mucosa with silicone tube intubation of the passage using an improvised metallic introducer. The procedure was successful in 13 of the cases in a follow-up period varying from 4 months to 15 months. The complications included extrusion of the tube and nasal bleeding. The indications of the procedure, the precise technique and precautions to avoid intra and post operative complications have been elaborated in the paper.
Assuntos
Adolescente , Adulto , Dacriocistorinostomia/métodos , Feminino , Seguimentos , Humanos , Intubação , Obstrução dos Ductos Lacrimais/terapia , Masculino , Pessoa de Meia-Idade , Complicações Pós-Operatórias , Prognóstico , Elastômeros de SiliconeRESUMO
We report a splenic abscess in an elderly diabetic female. Awareness of the disease is emphasised.