1/19. Rapid progression of cardiomyopathy in mitochondrial diabetes.Cardiac involvement and its clinical course in a diabetic patient with a mitochondrial tRNA(Leu)(UUR) mutation at position 3243 is reported in a 54-year-old man with no history of hypertension. At age 46, an electrocardiogram showed just T wave abnormalities. At age 49, it fulfilled SV1 RV5 or 6>35 mm with strain pattern. At age 52, echocardiography revealed definite left ventricular (LV) hypertrophy, and abnormally increased mitochondria were shown in biopsied endomyocardial specimens. He was diagnosed as having developed hypertrophic cardiomyopathy associated with the mutation. However, at age 54, SV1 and RV5,6 voltages were decreased, and echocardiography showed diffuse decreased LV wall motion and LV dilatation. Because he had mitochondrial diabetes, the patient's heart rapidly developed hypertrophic cardiomyopathy, and then it seemed to be changing to a dilated LV with systolic dysfunction. Rapid progression of cardiomyopathy can occur in mitochondrial diabetes.- - - - - - - - - - ranking = 1keywords = diabetes (Clic here for more details about this article) |
2/19. adult onset limb-girdle type mitochondrial myopathy with a mitochondrial dna np8291 A-to-G substitution.We analyzed mitochondrial dna (mtDNA) from 7 patients in four families with adult onset limb-girdle type mitochondrial myopathy to clarify their genetic background. The patients, 2 men and 5 women, showed common clinical features, characterized by isolated skeletal myopathy, high serum creatine kinase level, ragged-red fibers and cytochrome c oxidase-defective fibers. Analysis of muscle biopsy specimens indicated that cytochrome c oxidase activity was decreased relative to that of citrate synthase in 5 of the 7 patients. Southern blotting and direct sequence analyses showed an A-to-G homoplasmic transition at np8291 and intergenic COII/tRNA (Lys) 9bp deletion in all patients. This substitution was detected in only 2 of 600 control individuals including healthy subjects and patients with other neuromuscular disorders; these 2 individuals had diabetes mellitus and myotonic dystrophy, respectively. Consequently, the mtDNA transition at np8291 was a rare polymorphism. However, the 7 patients we studied had identical clinical, pathological, biochemical, and genetic features. Therefore, limb-girdle type mitochondrial myopathy with this rare polymorphism may form a subgroup of adult onset mitochondrial myopathy.- - - - - - - - - - ranking = 1.7998605043448keywords = diabetes mellitus, mellitus, diabetes (Clic here for more details about this article) |
3/19. Early onset of diabetes mellitus associated with the mitochondrial dna T14709C point mutation: patient report and literature review.We report a family in which a mother and son were affected with diabetes mellitus and myopathy characterized by ragged red fibers and suggestive of mitochondrial disease. Mitochondrial dna (mtDNA) analysis of dna isolated from peripheral blood showed a T-->C point mutation at nucleotide position 14709, in the transfer rna gene for glutamic acid. We review the association of diabetes and mtDNA mutations. This child's case is unusual because of the early onset of diabetes, which is more typical of mtDNA deletions.- - - - - - - - - - ranking = 9.3326358550574keywords = diabetes mellitus, mellitus, diabetes (Clic here for more details about this article) |
4/19. Multiple symmetric lipomatosis: an unusual cause of childhood obesity and mental retardation.Multiple symmetric lipomatosis (MSL), also known as Launois-Bensaude syndrome or Madelung's disease, is a rare disorder predominantly seen in middle-aged male patients. The disorder is characterized by large subcutaneous fat masses distributed around the neck, shoulders, and other parts of the trunk, often associated with nervous system abnormalities. A close relationship to alcoholism, metabolic disturbances and malignant tumours has been observed. Until now, MSL has only been described in adults. We report on the first two children, a 9-year-old girl and a 13-year-old boy, with the characteristic clinical findings of MSL. The girl presented with severe obesity, developmental delay, mild mental retardation, peripheral neuropathy, and latent hypothyroidism. In addition, she had elevated lactate concentrations in blood and cerebral spinal fluid suggesting mitochondrial dysfunction. Biochemical analyses of muscle showed a respiratory chain complex II deficiency. The boy suffered from severe obesity, mild mental retardation and insulin resistant diabetes mellitus. In both children, analyses of the mitochondrial genome did not reveal major deletions nor the MERRF 8344 point mutation. MSL seems to be a new neurometabolic disorder with heterogeneous clinical expression whose pathogenesis is still unknown.- - - - - - - - - - ranking = 1.7998605043448keywords = diabetes mellitus, mellitus, diabetes (Clic here for more details about this article) |
5/19. Familial mitochondrial intestinal pseudo-obstruction and neurogenic bladder.Intestinal dysmotility and neurogenic bladder have been described as part of two autosomal-recessive mitochondrial disorders assumed to be due to a defect in communication between the nuclear and mitochondrial genomes: myoneurogastrointestinal encephalopathy (MNGIE) and diabetes insipidus, diabetes mellitus, optic atrophy, and deafness (wolfram syndrome). Partial cytochrome c oxidase deficiency has been described in both. We describe three Ashkenazi Jewish siblings with progressive intestinal dysmotility, neurogenic bladder, and autonomic manifestations but no central nervous system involvement. Cytochrome c oxidase deficiency was demonstrated in peripheral and multiple intestinal muscle biopsies. Mitochondrial dna analysis of an intestinal biopsy of patient 1 showed heteroplasmy consisting of a normal 16.5-kb band and an approximately 28-kb band, suggestive of a duplication. Mitochondrial dna analysis of a muscle biopsy of patient 2 showed multiple deletions, mainly 10- and 11-kb bands. We suggest that this unique combination of intestinal pseudo-obstruction and neurogenic bladder could comprise a new autosomal-recessive mitochondrial disorder.- - - - - - - - - - ranking = 0.63105251125453keywords = mellitus, diabetes (Clic here for more details about this article) |
6/19. Complex mitochondriopathy associated with 4 mtDNA transitions.In a 33-year-old man, mitochondriopathy was diagnosed upon short stature, auditory impairment, gynaecomastia, hypogonadism, vertical ophthalmoplegia, cerebral atrophy, leucencephalopathy, cataract, hypertrabeculated left ventricle, hypothyroidism, diabetes mellitus, glomerulonephritis necessitating kidney transplantation, general wasting, polyneuropathy, abnormally high lactate levels on exercise, partially reduced cytochrome-c oxidase staining and abnormally structured mitochondria on muscle biopsy. Mitochondrial dna (mtDNA) analysis revealed 1 novel (A15662G) and 3 known mtDNA transition(s) (T3398C, T4216C, G15812A) affecting the cytb and ND1 gene, respectively. Three of the patient's transitions were also detected in blood leukocytes of the patient's maternal grandmother, mother and brother. Mutant mtDNA was heteroplasmic at >75% in the patient's skeletal muscle.- - - - - - - - - - ranking = 1.7998605043448keywords = diabetes mellitus, mellitus, diabetes (Clic here for more details about this article) |
7/19. Mitochondrial disease: beyond etiology unknown.Mitochondrial dysfunction is now recognized as a relatively common cause of degenerative disease in children. Mutations in either the mitochondrial or the nuclear genome that cause errors in the synthesis of enzymes essential for energy production and metabolism lead to a wide variety of pediatric problems, including developmental delays, sensorimotor impairment, seizures, diabetes, and organ failure. This article reviews the role of mitochondria in health and illness, discusses the clinical aspects of mitochondrial dysfunction, describes the experiences of three children with mitochondrial disease, and presents nursing strategies for affected families.- - - - - - - - - - ranking = 0.16666666666667keywords = diabetes (Clic here for more details about this article) |
8/19. An 80-year-old mitochondrial disease patient with A3243G tRNA(Leu(UUR)) gene presenting cardiac dysfunction as the main symptom.MELAS is characterized by mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes, but cardiac involvement also frequently occurs. An 80-year-old female patient had been suffering from insulin-dependent diabetes mellitus and neurosensory hearing loss. At the age of 79 she suffered metabolic acidosis with persistent drowsiness and was subsequently found to have severe cardiac dysfunction. Muscle biopsy disclosed the presence of abnormal mitochondria, and the MELAS gene mutation (A3243G of the tRNA(Leu(UUR))) was demonstrated. It is noteworthy that this mitochondrial disease patient has survived until a great age, which shows the wide clinical spectrum of MELAS, especially in the age of onset.- - - - - - - - - - ranking = 1.7998605043448keywords = diabetes mellitus, mellitus, diabetes (Clic here for more details about this article) |
9/19. Contraindication of magnesium sulfate in a pregnancy complicated with late-onset diabetes mellitus and sensory deafness due to mitochondrial myopathy.A primipara affected by late-onset diabetes and sensory deafness because of mitochondrial myopathy was hospitalized for threatened preterm delivery. magnesium sulfate was started for tocolysis, resulting in general muscle damage, although the mitochondrial myopathy did not deteriorate during pregnancy. magnesium sulfate may be contraindicated in pregnancy with mitochondrial myopathy.- - - - - - - - - - ranking = 7.3661086840459keywords = diabetes mellitus, mellitus, diabetes (Clic here for more details about this article) |
10/19. Alterations of rCBF and mitochondrial dysfunction in major depressive disorder: a case report.OBJECTIVE: A mitochondrial disease might be considered when depressive disorder is associated with diabetes mellitus or other symptoms commonly found in mitochondrial disease. Scattered regional cerebral blood flow (rCBF) decreases and increases have been reported in depressive and mitochondrial disorders. A 61-year-old male patient with early adult onset of depressive disorder and a slowly developing multiorgan syndrome including diabetes mellitus was investigated. METHOD: 99mTc-HMPAO rCBF SPECT and muscle biopsy to assess mitochondrial functions were performed in the patient. RESULTS: Alterations of rCBF were found in the patient, with the most pronounced decreases in the left dorsolateral frontal and inferior parietal lobes, and the most pronounced increases in the bilateral superior parietal lobes. Muscle biopsy revealed myopathy and decrease of mitochondrial adenosine triphosphate production rates (MAPRs). CONCLUSION: The MAPRs decreases support the suspicion of mitochondrial dysfunction in the patient. A subgroup of depressed patients may have mitochondrial dysfunctions.- - - - - - - - - - ranking = 3.5997210086896keywords = diabetes mellitus, mellitus, diabetes (Clic here for more details about this article) |
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