1/33. Hereditary glomerulopathy associated with a mitochondrial tRNA(Leu) gene mutation.Several cases of hereditary glomerulopathy associated with an A to G transition at position 3243 in mitochondrial dna, which is known to be associated with most cases of melas syndrome (myopathy, encephalopathy, lactic acidosis, and stroke-like episodes), have been recently reported. These patients share the characteristics of hereditary progressive glomerular disease and hearing loss with Alport syndrome. We therefore screened 27 patients with kidney disease clinically mimicking Alport syndrome for the presence of the 3243 mitochondrial mutation, and found one girl with the mutation and a positive family history. Her clinical features were very similar to those of all cases reported to date. An absence of hematuria, severe kidney involvement in a female, pathological changes of focal segmental glomerulosclerosis with no basket-weave change of the glomerular capillary wall, and the frequent association of steroid-induced diabetes are the major features that distinguish this condition from Alport syndrome. Careful neurological examination may detect neuromuscular symptoms compatible with mitochondrial cytopathies. In conclusion, progressive glomerulopathy should be included in the broad spectrum of mitochondrial cytopathies, especially in cases of melas syndrome. This mutation should also be included in the etiologies of secondary focal segmental glomerulosclerosis and in the differential diagnosis of Alport syndrome.- - - - - - - - - - ranking = 1keywords = diabetes (Clic here for more details about this article) |
2/33. Mitochondrial dna mutation at np 3243 in a family with maternally inherited diabetes mellitus.Mitochondrial dna (mtDNA) gene defects may play a role in the development of maternally inherited diabetes mellitus and deafness (MIDD). A family from Southern italy who showed maternal transmission of type 2 diabetes mellitus with three individuals affected is described. A 10.4 kb deletion and mutations at nucleotide positions (np) 3243, 7445 and 11778 in the mtDNA of six relatives were sought. The mitochondrial np 3243 mutation of the tRNA Leu (UUR) gene was identified in a boy affected by optic atrophy and mental retardation, as well as in his diabetic mother. No other mutations or deletions were found. Our study points out the variable phenotypic expression of the np 3243 mtDNA mutation. This may suggest the presence of other mitochondrial or nuclear mutations required to modulate the phenotype. A clinical and metabolic follow-up of all family members was necessary to understand the role of the np 3243 mutation, especially in one child affected by optic atrophy and mental retardation. Further studies will be aimed at investigating the prevalence of mutations and deletions of mtDNA in type 2 diabetes mellitus.- - - - - - - - - - ranking = 35.435137151813keywords = diabetes mellitus, diabetes, mellitus (Clic here for more details about this article) |
3/33. hearing loss with a mitochondrial gene mutation is highly prevalent in japan.OBJECTIVES/HYPOTHESIS: Mutations in the mitochondrial genome may predispose people to sensorineural hearing loss. An adenine to guanine point mutation in the tRNA(Leu(UUR)) gene at nucleotide 3,243 is one of the deaf-related mutations. This mutation is reported to be associated with 0.9% of diabetes mellitus patients. However, the prevalence of this mutation in hearing-impaired patients still remains unknown. The aim of this study was to determine the prevalence of this mutation among bilaterally sensorineural hearing-impaired patients in japan. STUDY DESIGN: Retrospective survey of 100 patients with bilateral sensorineural hearing loss without any evident causes. methods: Mitochondrial dna fragments from the patients were amplified by polymerase chain reaction, followed by a restriction enzyme fragment length polymorphism method. RESULTS: Three patients with this mutation were identified. Their clinical profiles were different from the category which had been considered as hearing loss caused by this mitochondrial gene mutation. CONCLUSIONS: The mutation is associated with approximately 3% of bilateral sensorineural hearing loss cases of unknown origin and is possibly distributed widely in sensorineural hearing-impaired patients in japan.- - - - - - - - - - ranking = 5.0621624502589keywords = diabetes mellitus, diabetes, mellitus (Clic here for more details about this article) |
4/33. kidney transplantation unraveling wolfram syndrome: a case report.BACKGROUND: In wolfram syndrome insulin-dependent diabetes is associated with a multisystem neurodegenerative disorder. There are no prior reports of kidney transplantation in patients with wolfram syndrome. methods: kidney transplantation was undertaken in a child with dysplastic kidneys, sensorineural hearing impairment and bilateral optic atrophy-a combination of features insufficient to define wolfram syndrome. RESULTS: After the procedure diabetes mellitus, diabetes insipidus and urinary bladder dysfunction emerged, thereby revealing wolfram syndrome. CONCLUSIONS: We discuss the etiology of our patient's postoperative events, and conclude that kidney transplantation may expose dormant manifestations-or aggravate existing manifestations-of wolfram syndrome.- - - - - - - - - - ranking = 7.2574065933913keywords = diabetes mellitus, diabetes, mellitus, insulin-dependent (Clic here for more details about this article) |
5/33. mtDNA disease in the primary care setting.Disorders of mitochondrial dna (mtDNA) may commonly present to primary care physicians but go undiagnosed. A 36-year-old man with a 15-year history of psychosis, seizures, and sensorineural hearing loss and a family history of diabetes mellitus and heart disease presented to our hospital without a unifying diagnosis. Physiologic, biochemical, and genetic testing revealed deficient aerobic metabolism, a defect in mitochondrial electron transport, and the presence of an A-to-G point mutation at position 3243 of the mitochondrial leucine-transfer rna gene, establishing the diagnosis of mitochondrial encephalopathy, lactic acidosis, and strokelike syndrome (MELAS). Diagnosing mtDNA disorders requires a careful integration of clinical signs and symptoms with pedigree analysis and multidisciplinary testing. diagnosis is important to provide genetic counseling, avoid unnecessary evaluation, and facilitate therapy for symptomatic relief.- - - - - - - - - - ranking = 5.0621624502589keywords = diabetes mellitus, diabetes, mellitus (Clic here for more details about this article) |
6/33. Ophthalmologic and systemic features of the alstrom syndrome: report of 9 cases.The alstrom syndrome is a rare autosomal recessive disorder characterized by pigmentary retinopathy, diabetes mellitus, sensorineural deafness and obesity. A normal intelligence is often present. We report 9 patients.- - - - - - - - - - ranking = 5.0621624502589keywords = diabetes mellitus, diabetes, mellitus (Clic here for more details about this article) |
7/33. alstrom syndrome: a case report.alstrom syndrome is a rare disorder characterized by early obesity, loss of central vision, diabetes mellitus, hearing loss and short stature. Previous studies, have reported no information regarding oral findings. This article describes oral findings in two cases of alstrom syndrome. In both cases, gingivitis was present and also light yellow-brown discolored enamel bands were observed on the anterior teeth. This staining may have resulted from discoloration of the preexisting slight band-like enamel hypoplasia. The gingiva was examined histologically by light and transmission electron microscopy. Irregular thickness of the basal lamina and delamination of the myelin sheath were detected by transmission electron microscopy. There is no information about pathological odontogenesis in alstrom syndrome in previous reports. Oral present findings may contribute further information about the clinical manifestations of alstrom syndrome.- - - - - - - - - - ranking = 5.0621624502589keywords = diabetes mellitus, diabetes, mellitus (Clic here for more details about this article) |
8/33. Sudden irreversible sensory-neural hearing loss in a patient with diabetes receiving amikacin as an antibiotic-heparin lock.Gram-negative septicemia due to central venous catheter-related infection is a leading cause of mortality and morbidity among patients who undergo hemodialysis. Antibiotic-heparin locks are valuable for preserving access sites and lowering the cost and inconvenience associated with central venous catheter replacement and surgical interventions. The optimal duration of use of an antibiotic-heparin lock is unknown. Prolonged use of an amikacin-heparin lock may lead to severe irreversible sensory-neural hearing loss. patients at risk for this complication should be monitored for its emergence to facilitate early detection. A 43-year-old man with diabetic end-stage renal disease received hemodialysis through a permanent catheter. After 16 weeks of using an amikacin-heparin lock, he suddenly developed sensory-neural hearing loss of 40 dB, which affected high frequencies. His condition progressed relentlessly within 1 week despite immediate discontinuation of the amikacin-heparin lock. The patient developed severe irreversible hearing loss below 80 dB for both high and low frequencies.- - - - - - - - - - ranking = 4keywords = diabetes (Clic here for more details about this article) |
9/33. A case of diabetes, deafness, cardiomyopathy, and central sleep apnea: novel mitochondrial dna polymorphisms.We describe a case of diabetes mellitus complicated by neurosensory hearing loss, cardiomyopathy, and sleep apnea syndrome. A 48-year-old man who was admitted for treatment of a lacerated tendon of the right shoulder was also found to require preoperative control of diabetes, a condition that had been diagnosed 4 years earlier. The family pedigree suggested maternal inheritance of diabetes. The patient also had neurosensory hearing loss and the central type of sleep apnea syndrome. His myocardium was hypertrophic and the ultrastructural analysis showed morphologically abnormal mitochondria. On the basis of the apparent characteristic manifestations, we speculated that he had a mitochondrial disease. To elucidate the responsible mutation of mitochondrial dna, we sequenced the patient's entire mitochondrial dna derived from blood leukocytes and found 40 sequence variants. Three of those, 5466 A/G, 7912 G/A, and 10601 T/C, have not yet been reported. Nine of the 40 variants were accompanied by an amino acid replacement, including 5466 A/G. Although we could not determine the most significant mutation, the variants of mitochondrial dna may have been associated with this patient's unusually variable clinical manifestations.- - - - - - - - - - ranking = 11.062162450259keywords = diabetes mellitus, diabetes, mellitus (Clic here for more details about this article) |
10/33. cochlear implantation in maternal inherited diabetes and deafness syndrome.We describe a rare case of a gradually progressive hearing loss in a patient with maternally inherited diabetes and deafness (MIDD) syndrome successfully rehabilitated with a cochlear implant. The possible aetiology of the hearing loss in these cases is discussed.- - - - - - - - - - ranking = 5keywords = diabetes (Clic here for more details about this article) |
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