Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0011849 (diabetes)
 277,896 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We describe five patients with Wolfram syndrome (diabetes insipidus, diabetes mellitus, optic atrophy and deafness). Three of the patients appear to have had very gradual onset of diabetes mellitus at an early age yet all patients when tested for C-peptide response to glucagon were severely deficient. All patients are registered blind from primary optic atrophy, two have severe hearing difficulties and three high tone sensorineural hearing loss on audiometry. Four patients have cranial diabetes insipidus which in two cases is partial and of gradual onset and was attributed to poor control of the diabetes mellitus. In one case treatment of the insipidus relieved enuresis. All five patients have evidence of dilatation of the urinary tract and one patient is managed in the long-term by self-catheterisation which has resulted in one episode of bacteraemia. One patient has marked testicular atrophy and investigation reveals this to be due to primary hypogonadism and not to hypothalamic-pituitary dysfunction. One female patient had her menarche delayed until the age of 19 years but has subsequently had the only successful pregnancy in a patient with this syndrome of which we are aware.
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PMID:Wolfram (DIDMOAD) syndrome: a complex long-term problem in management. 308 28

The purpose of this study was to investigate whether or not a rising, progressively improving (RPI) sensorineural hearing loss from lower toward higher frequencies might be related to or serve as an indicator or predictor of diabetes. Forty-five subjects between the ages of 21 and 79, demonstrating a RPI audiometric pattern, were considered for a 5-hour oral glucose tolerance test. Based on the National Diabetes Data Group standard, results showed that diabetes mellitus appeared in seven subjects; five subjects had impaired glucose tolerance; and nine subjects had mild but nondiagnostic glucose intolerance. Relatively normal glucose values were demonstrated by 53% of subjects. There may be some value in an RPI audiometric pattern as an indicator or early detection sign for diabetes, but further research is necessary before such conclusions can be drawn.
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PMID:Audiometric configuration as a reflection of diabetes. 317 18

Necrotizing external otitis is described almost exclusively in elderly diabetics. A review of the literature revealed 12 children, ages 2 months to 21 years, who have been described with this problem. Two additional patients are reported here. In children the male:female ratio is 1:1, whereas in adults a 2:1 male preponderance is seen. Diabetes mellitus, present in 94.7% of adults, is seen in only 21% of children. Facial nerve paralysis occurs in 35% of the children as compared to 52% of the adults. Facial paralysis was permanent in 100% of the children, but only 36.3% of the surviving adults had permanent facial paralysis. Surgical intervention had no significant effect on either group. Other pediatric complications include external auditory canal stenosis (29%), auricular cartilage deformity (11%), and sensorineural hearing loss (18%). A 40% to 50% mortality rate is seen in adults whereas no deaths have been reported in children. The clinical presentation of necrotizing external otitis in children shares some features with the disease as described in adults. However, notable differences do exist and form the basis of this report. The proposed pathophysiology of necrotizing external otitis in adults and its significance for disease in children are also discussed.
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PMID:Necrotizing external otitis in children: report of two cases and review of the literature. 357 7

We compared audiometric and clinical histories with findings in temporal bones of eight diabetics and ten normal controls matched for age and sex. The group with diabetes mellitus had significantly more hearing loss than the normal control group (p less than .01). Only patients with diabetes had microangiopathy. Patients with microangiopathic involvement of the endolymphatic sac had significantly greater hearing loss than patients without such involvement (p less than .01). Microangiopathy in the stria vascularis was highly significant in the diabetics (p less than .001); however, they did not have a significant hearing loss. Diabetic patients with basilar membrane microangiopathy had significantly lower percentages of histologically normal hair cells (p less than .05) and stria vascularis cells (p less than .05) and significantly greater hearing loss (p less than .01) than diabetic patients without such pathologic changes. Results of this study suggest that diabetic sensorineural hearing loss results from microangiopathic involvement of the endolymphatic sac and/or basilar membrane vessels.
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PMID:Diabetes mellitus and hearing loss: clinical and histopathologic relationships. 371 8

Report of an 3 1/2 year old girl who because of resistant anemia and thrombocytopenia received blood transfusions since her third month of life. 15 months later she developed diabetes mellitus. Sensorineural deafness was noticed since her third year of life. Daily 25 mg thiamine prevented anemia and thrombocytopenia. The syndrome is compared with the 5 published cases of world literature.
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PMID:[Thiamine-dependent anemia and thrombocytopenia, insulin-dependent diabetes mellitus and sensorineural deafness--case report and review]. 404 87

A syndrome including juvenile-onset diabetes mellitus, optic atrophy, diabetes insipidus, and high-frequency sensorineural hearing loss, expressed completely or partially, is being identified with greater frequency. Visual loss may be progressive and accompanied by primary optic atrophy. Concurrent diabetic retinopathy has only rarely been reported. Visual acuity may deteriorate to less than 20/400. The etiology is unknown. However, histopathologic studies indicate that the diabetes insipidus, optic atrophy, and neurosensory hearing loss represent progressive degenerative conditions. Inheritance appears to be autosomal recessive with incomplete penetrance. The syndrome is rare; therefore, a complete neuroophthalmologic and neuroradiologic evaluation is imperative to rule out a mass lesion. This syndrome should be considered in young people with visual loss and optic atrophy of unknown etiology even if they are not known juvenile diabetics.
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PMID:Progressive visual loss, diabetes mellitus, and associated abnormalities (DIDMOAD syndrome). 622 6

A brother and a sister with DIDMOAD syndrome (diabetes insipidus, diabetes mellitus, optic atrophy, deafness, etc.) are described. The 15-year-old girl was suffering from severe optic atrophy, severe sensorineural hearing loss but only slight diabetic retinopathy. The 16-year-old boy presented with symptoms which were the opposite: slight optic atrophy, slight sensorineural hearing loss but severe diabetic retinopathy. These complementary impairments of neuronal and (diabetic) retinal function suggest that optic atrophy and retinopathy develop independently in DIDMOAD syndrome.
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PMID:[Independence of retinopathy and optic atrophy in the DIDMOAD syndrome]. 648 90

An A to G transition at nucleotide 3,243 in the tRNA(Leu)(UUR) gene of mitochondrial DNA has recently been identified as a pathogenic point mutation which is associated with diabetes mellitus and sensorineural deafness in several pedigrees. We have also reported a family showing the association of deafness and diabetes mellitus as the predominant clinical features with this mutation. Audiologic data from two patients in this family are presented. Both had a bilaterally symmetrical sensorineural hearing loss at all frequencies. As is often the case with deafness associated with a mitochondrial disorder, the pure-tone threshold values were maximal at high frequencies in both patients. The audiologic work-up presented not only cochlear characteristics but also signs suggestive of retrocochlear disturbance with poor speech discrimination scores as compared to pure-tone thresholds, although auditory brain-stem responses showed neither wave delay nor prolonged interpeak latencies.
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PMID:[Audiologic evaluation in a family showing diabetes mellitus and deafness associated with a mutation in mitochondrial DNA]. 747 62

This is the first reported case of dystonia with a partial deletion of the long arm (q) of chromosome 18. Neurologic findings in the 18q- syndrome include mental retardation, seizures, nystagmus, incoordination, tremor, and chorea. A 36-year-old woman with an 18q terminal deletion [karyotype 46,XX,del(18)(q22.2)] had hypothyroidism, diabetes mellitus, borderline intelligence, short stature, short neck, sensorineural hearing loss, and sensorimotor axonal neuropathy. Parents' karyotypes were normal. She had had incoordination and writing difficulty since childhood. Posturing and tremor of the head began at age 16, followed by arm tremors. She had jaw deviation and tremor, neck tremor with retrocollis, involuntary pronation of the right arm, coarse postural and severe action tremor, and tight pen grip with dystonic wrist extension on writing. The 18q- syndrome should be added to the list of genetic causes of secondary dystonia. A karyotype analysis should be considered in secondary dystonias, particularly when there are associated features such as short stature and endocrinopathies.
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PMID:Dystonia in a patient with deletion of 18q. 756 32

An A-to-G mutation at nucleotide position 3243 of the mitochondrial genome has been associated with insulin-dependent diabetes mellitus (IDDM) and with noninsulin-dependent diabetes mellitus (NIDDM) with deafness. We investigated the prevalence of this mutation in Japanese patients with IDDM, NIDDM, and impaired glucose tolerance (IGT) and in nondiabetic control individuals, and we identified it in 3 of 300 patients with NIDDM or IGT (1.0%). None of these individuals had significant sensorineural hearing loss. None of the 94 IDDM or the 115 nondiabetic control subjects was positive for this mutation. Oral glucose tolerance test revealed that a 57-yr-old male with this mutation was rather hyperinsulinemic in the fasting state. The insulin secretion in this patient decreased with age; he did not complain of any hearing disorder, although audiometry revealed a slight elevation of hearing threshold at high frequencies. In conclusion, we found that a mitochondrial gene mutation at nucleotide position 3243 was present in about 1% of NIDDM patients including those patients with IGT. The subtype of diabetes mellitus with this mutation may have a clinical profile similar to that found in patients with NIDDM commonly seen in outpatient clinics.
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PMID:Prevalence and clinical characterization of Japanese diabetes mellitus with an A-to-G mutation at nucleotide 3243 of the mitochondrial tRNA(Leu(UUR)) gene. 771 2


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