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Query: UMLS:C0011849 (diabetes)
 277,896 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

There is an increasing interest on one of the smallest human chromosomes as it is shown by the First International Symposium on the Human Chromosome 20 and by the genetic map prepared by EUROGEN. The conserved part of the long arm of human chromosome 20 is synthenic with the distal part of the mouse chromosome 2 allowing for some analogies between them. Human chromosome 20 contains several important genes for the human pathology. Mutations of one of them, the vasopressin-neurophysin II gene, are responsible for hereditary neurohypophyseal diabetes insipidus. Severe combined immunodeficiency due to adenosin deaminase deficiency is the first human disorder successfully treated by somatic gene therapy. Spongiform encephalopathies are related to mutation and/or polymorphisms of the PRNP amyloid gene. One form of benign familiar neonatal convulsions is mapped to a specific locus on chromosome 20. In some families, maturity onset diabetes of the young (MODY) is caused by alterations of a hypothetical gene closely linked to the ADA locus. Allegile syndrome is often associated with deletions and microdeletions of the short arm of the chromosome. Finally, deletions of the long arm of the chromosome is a frequent finding in several hematologic malignities, specifically in myeloproliferative disorders and myelodysplastic syndromes.
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PMID:[The human genome--chromosome 20]. 748 83

Wolfram syndrome is the association of diabetes mellitus and optic atrophy, and is sometimes called DIDMOAD (diabetes insipidus, diabetes mellitus, optic atrophy, and deafness). Incomplete characterisation of this autosomal recessive syndrome has relied on case-reports, and there is confusion with mitochondrial genome disorders. We therefore undertook a UK nationwide cross-sectional case-finding study to describe the natural history, complications, prevalence, and inheritance of the syndrome. We identified 45 patients with Wolfram syndrome--a prevalence of one per 770,000. Non-autoimmune, insulin-deficient diabetes mellitus presented at a median age of 6 years, followed by optic atrophy (11 years). Cranial diabetes insipidus occurred in 33 patients (73%) with sensorineural deafness (28, 62%) in the second decade; renal-tract abnormalities (26, 58%) presented in the third decade followed by neurological complications (cerebellar ataxia, myoclonus [28, 62%]) in the fourth decade. Other abnormalities included gastrointestinal dysmotility in 11 (24%), and primary gonadal atrophy in seven of ten males investigated. Median age at death (commonly central respiratory failure with brain-stem atrophy) was 30 years (range 25-49). The natural history of Wolfram syndrome suggests that most patients will eventually develop most complications of this progressive, neurodegenerative disorder. Family studies indicate autosomal recessive inheritance with a carrier frequency of one in 354, an absence of a maternal history of diabetes or deafness, and an absence of the mitochondrial tRNA Leu (3243) mutation. Juvenile-onset diabetes mellitus and optic atrophy are the best available diagnostic criteria for Wolfram syndrome, the differential diagnosis of which includes other causes of neurodegeneration.
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PMID:Neurodegeneration and diabetes: UK nationwide study of Wolfram (DIDMOAD) syndrome. 749 Sep 92

Wolfram's syndrome is defined by the association of diabetes mellitus, diabetes insipidus, optic atrophy and nerve deafness. Other neurological anomalies, such as ataxia, nystagmus, tonic pupil, dizziness, dysarthria, dysphagia and epilepsy are rarely described and tend to appear later than the primary manifestations. We describe a patient with Wolfram's syndrome whose magnetic resonance image (MRI) of the head showed brainstem and cerebellar atrophy years before the appearance of clinical signs of brainstem disfunction. We conclude that alterations in MRI precede neurological symptoms by several years in Wolfram's syndrome.
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PMID:[Wolfram's syndrome: correlation of clinical signs and neurological images]. 769 38

The 6-year follow-up of a patient affected by Wolfram's syndrome, a rare disease characterized by diabetes insipidus (DI), diabetes mellitus (DM), optic atrophy (OA), neurosensory deafness (D), atony of the urinary tract and other abnormalities (DIDMOAD or Wolfram's syndrome), is described. Our patient has diabetes insipidus, diabetes mellitus, abnormal audiograms, without subjective evidence of hearing loss, and dilatation of the urinary tract. Diagnosis was suspected at the age of 8 years. Diabetes mellitus was the first manifestation and treatment with insulin was necessary. Desmopressin therapy decreased dramatically the daily urinary output. In view of the significant morbidity and mortality from renal failure associated with recurrent urinary infections, we have drawn special attention to the urological manifestations of the syndrome. During the follow-up, the patients underwent some investigations, such as renal ultrasound and echotomography and cystourethroscopy. Outstanding results of these studies are severe bilateral hydronephrosis with dilatated ureters and loss of renal tissue. The particular finding is the presence of posterior urethral valves with obstructed bladder. The anatomical outlet obstruction are variable and may be disastrous. There may be failure to thrive, sepsis, anemia be disanal failure. In such instances corrective surgery could improve bladder and ureteral functions.
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PMID:[Wolfram syndrome. Peculiar urologic aspects]. 779 16

The association of diabetes insipidus, diabetes mellitus, optic atrophy and deafness (DIDMOAD) is known as Wolfram syndrome. The ophthalmic signs are progressive decrease in visual acuity, constriction of the peripheral visual field with or without central scotoma, colour vision disturbances and bilateral optic disc atrophy. Diabetic retinopathy is a rare complication. We describe the ophthalmological complications in four patients with this syndrome.
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PMID:Four cases of Wolfram syndrome: ophthalmologic findings and complications. 789 60

The DIDMOAD or so called Wolfram syndrome is a hereditary disease with autosomal-recessive transmission showing 4 main features: diabetes mellitus, diabetes insipidus, nervus opticus atrophia and deafness. Beside this it shows multiple organ involvement. Our 38-year old male patient, showing all above mentioned features except deafness had urinary tract involvement and neurological symptoms. EEG, cerebral MRI, tests with evoked potentials and HLA-typing were performed to discuss the aetiopathogenetic background in our patient. Almost all symptoms of the Wolfram syndrome can be mixed up with complications of diabetes mellitus, which is usually the first symptom of the Wolfram syndrome. Because of this, wrong diagnosis is not rare. Hence in differential diagnosis in any diabetes mellitus type I patient, the possibility of the Wolfram syndrome should be discussed.
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PMID:[DIDMOAD syndrome]. 802 26

Four clinical forms of optic neuropathy can occur in diabetes: 1. Axial neuropathy is a classical optic neuropathy. 2. Anterior ischemic optic neuropathy is an acute optic disc ischaemia and the visual loss depends on the number of fibers destroyed. 3. Acute disc swelling occurs in young patients with a type 1 diabetes. It can be asymptomatic, but can also simulate optic disc new-vessels. It seems not to be a ciliary but rather an epipapillary and peripapillary capillaropathy. 4. Optic atrophy can constitute the final out come of forms one and too. In the child, the Wolfram ou DIDMOAD syndrome associates diabetes insipidus, diabetes mellitus, optic atrophy and deafness.
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PMID:[Optic neuropathy in diabetic subjects]. 805 17

Mitochondrial DNA mutations cause several human diseases, (eg, Leber's hereditary optic neuropathy). Wolfram syndrome (characterised by diabetes insipidus, diabetes mellitus, optic atrophy, and deafness) also has, in some cases, a mitochondrial origin. The disease, often familial, has been well documented as an autosomal recessive disorder, and most of the clinical phenotypes are consistent with an ATP supply defect that is often seen in mitochondrial-mediated disorders. We propose a dual genome defect model for Wolfram syndrome in which nuclear genetic defects or mitochondrial genetic defects can independently lead to the disease. This model suggests that besides a mitochondrial gene defect alone, a nuclear gene defect, which interferes with the normal function of mitochondria (probably with a normal mitochondrial genome), can also be the underlying explanation for the pleiotropic features of Wolfram syndrome. This hypothesis explains how an autosomal recessive disorder can result in mitochondrial dysfunction, and has a general application in the identification of candidate genes for the various important phenotypes (eg, deafness and diabetes mellitus) seen in mitochondrial disorders.
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PMID:Wolfram syndrome: a mitochondrial-mediated disorder? 810 96

We report 2 patients with DIDMOAD syndrome (diabetes insipidus, diabetes mellitus, optic atrophy and neural deafness), with emphasis on the urological aspects and their management. Both patients underwent thorough radiological endoscopic and urodynamic evaluation, in addition to detailed evaluation of other systems involved. Each had the characteristic hyper-reflexive neurogenic bladder with sphincteric dyssynergia, which resulted in severe urinary tract dilation. One patient was diagnosed at this institution and managed conservatively with clean intermittent catheterisation and anticholinergic medication; the second patient was referred to us after several attempts at surgical correction. The presentation, details of the urological evaluation with special emphasis on the urodynamic findings, and the outcome of different means of management are discussed.
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PMID:Wolfram's (DIDMOAD) syndrome and its urological manifestation. 814 55

The Brattleboro rat with hypothalamic diabetes insipidus (BDI) has an abnormal aversion to drinking quinine-adulterated water compared with normal rats of the parent Long Evans (LE) strain. This BDI animal tolerates marked hypovolemia and decreased body weight in preference to drinking the quinine-adulterated fluid, indicative of a reduced motivation to drink. Acute or chronic treatment of BDI rats with desamino-8D arginine vasopressin (DDAVP) restored to normal their drinking response to quinine solution. Partial restoration of fluid turnover in BDI rats with hydrochlorothiazide, which has an antidiuretic effect in diabetes insipidus (when vasopressin is absent), failed to abolish the abnormal drinking response to quinine-adulterated solution in 8 out of 12 animals. In contrast, induction of diabetes mellitus in LE rats, which resulted in a marked polydipsia and polyuria even though vasopressin was still present, did not impair the drinking response to quinine solutions. These results suggest that the abnormal drinking response to quinine-adulterated fluid in BDI rats is reversed by treatment with the vasopressin V2-receptor agonist DDAVP but is unlikely to be a consequence of the restoration of fluid turnover to normal levels by a renal action. A possible central action involving vasopressin and the motivation to drink is discussed.
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PMID:The abnormal quinine drinking aversion in the Brattleboro rat with diabetes insipidus is reversed by the vasopressin agonist DDAVP: a possible role for vasopressin in the motivation to drink. 819 Jul 53


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