Assuntos
Pressão Sanguínea/efeitos dos fármacos , Corantes/efeitos adversos , Hipotensão/induzido quimicamente , Verde de Indocianina/análogos & derivados , Choque/induzido quimicamente , Idoso , Corantes/administração & dosagem , Vias de Administração de Medicamentos , Quimioterapia Combinada , Feminino , Angiofluoresceinografia/efeitos adversos , Fundo de Olho , Glucocorticoides/uso terapêutico , Decúbito Inclinado com Rebaixamento da Cabeça , Antagonistas dos Receptores Histamínicos/uso terapêutico , Humanos , Hipotensão/fisiopatologia , Hipotensão/terapia , Verde de Indocianina/administração & dosagem , Verde de Indocianina/efeitos adversos , Degeneração Macular/complicações , Degeneração Macular/diagnóstico , Descolamento Retiniano/diagnóstico , Descolamento Retiniano/etiologia , Choque/fisiopatologia , Choque/terapia , Vasoconstritores/uso terapêuticoRESUMO
PURPOSE: To report the characteristic findings of a macular pattern dystrophy in patients with diabetes and deafness resulting from the mitochondrial point mutation at position 3243 and to expand the clinical spectrum of this condition by describing functional testing results. METHODS: Four diabetic patients who were referred to the eye department for diabetic fundus examination were found to harbor a macular pattern dystrophy. Further examination of visual fields; color contrast sensitivity; and the ear, nose, and throat; and molecular analysis of the mitochondrial genome were performed. Two of our patients were sisters. Their relatives also were examined. RESULTS: All four patients were found to harbor the mitochondrial point mutation at position 3243 and presented clinically with the phenotype of diabetes and deafness. The macular pattern dystrophy described in these patients seems to be typical for this condition. Results of a 9-year follow-up study of one of the patients showed mild progression of atrophic changes. The overall prognosis of the retinopathy is likely to be good. CONCLUSION: These cases demonstrate the need for further molecular investigations when a macular pattern dystrophy is found in a patient with diabetes and deafness.
Assuntos
Surdez/complicações , Complicações do Diabetes , Degeneração Macular/complicações , Adulto , Percepção de Cores , Sensibilidades de Contraste , DNA Mitocondrial/genética , Surdez/diagnóstico , Surdez/genética , Diabetes Mellitus/diagnóstico , Diabetes Mellitus/genética , Feminino , Angiofluoresceinografia , Seguimentos , Fundo de Olho , Genoma Humano , Humanos , Macula Lutea/patologia , Degeneração Macular/diagnóstico , Degeneração Macular/genética , Pessoa de Meia-Idade , Linhagem , Fenótipo , Mutação Puntual , Campos VisuaisRESUMO
The neuroleptic malignant syndrome (NMS) is an uncommon but dangerous complication of treatment with neuroleptic drugs. A primary defect in skeletal muscle has been suggested in view of similarities in the clinical presentations of NMS and anaesthetic-induced malignant hyperthermia (MH). The in vitro halothane-caffeine contracture tests are the most reliable method of identifying individuals susceptible to MH. The aim of this study was to define if a relationship exists between NMS and MH susceptibility. Hence, the in vitro halothane and caffeine contracture tests were performed on muscle tissue obtained from eight NMS, ten MH-susceptible and ten control patients. The results, which are expressed in accordance with the criteria of the European MH Group, defined the eight NMS subjects as MH non-susceptible. The response to halothane and caffeine exposure of skeletal muscle from NMS and control subjects was the same and significantly different from that of muscle from patients susceptible to MH. Furthermore, muscle from subjects in NMS and control group responded similarly to increasing concentrations of chlorpromazine. These results do not point towards an association between NMS and MH.