Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0011854 (type 1 diabetes)
 20,749 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Hypoglycemic episodes were studied in two large populations of prepubertal (332 subjects, aged 6-11 years) and adolescent (200 subjects, aged 12-18 years) diabetic children. We confirmed the majority of published data on incidence and causes of hypoglycemia and added some new information on the complex symptomatology and fear of hypoglycemia. Longer duration of IDDM induced a change in the symptomatology of hypoglycemia, consisting of a reduced occurrence of autonomic symptoms, namely tremor, and a parallel increased experience of neuroglycopenic symptoms, particularly drowsiness, difficulty in concentrating, and lack of coordination. The latter symptoms were found more frequently in patients with partial unawareness, more severe episodes and higher fear of hypoglycemia. These observations draw attention to the neuroglycopenic symptoms as important warning cues of hypoglycemia. We emphasized the necessity of observing the change in the frequency of symptoms experienced by patients, in particular autonomic and neuroglycopenic symptoms, in order to educate patients to preserve a normal awareness of hypoglycemia and prevent severe episodes.
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PMID:Problems of hypoglycemia arising in children and adolescents with insulin-dependent diabetes mellitus. The Diabetes Study Group of The Italian Society of Pediatric Endocrinology & Diabetes. 964 56

Progressive signs of ataxia in a eight years old girl prompted neurological investigation. The girl had unstable gait with incoordination of limb movements, impairment of position and vibratory senses, dysarthria, pes cavus, positive Babinski sign and scoliosis. At the age of fourteen the girl was referred in a comatose condition, in a severe diabetic ketoacidosis. Ataxia and hypoactive knee and ankle jerks prompted the analysis of the frataxin gene (FXN; 606829). The most common molecular abnormality: GAA trinucleotide repeat expansion in intron 1 was found with + 300 GAA repeats (1490bp) (normal individuals have 5 to 30 GAA repeat expansions, whereas affected individuals have from 70 to more than 1,000 GAA triplets). Electrocardiogram showed diffuse T wave inversion with sinus bradycardia, while ultrasound revealed concentric, symmetric hypertrophy of left ventricle leading to the diagnosis of hyperthrophic cardiomyopathy. At the age of 14 years, the patient was bound to the wheel-chair, unable to walk. Her brother started to show ataxia at the age of 8 years, and subsequent analysis showed hyperthrophic cardiomyopathy, too. His mutational analysis revealed the same frataxin abnormality, with + 300 GAA repeats. So far, no signs of diabetes occurred. The parents are heterozygous with FXN of 9 -10 GAA (490 bp). Both children received a beta blocker, while the girl's diabetes mellitus was treated by insulin preparations. This is a report of two siblings with Fridreich ataxia and hyperthrophic cardiomyopathy. In addition, the girl developed type 1 diabetes mellitus.
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PMID:Friedreich ataxia (FA) associated with diabetes mellitus type 1 and hyperthrophic cardiomyopathy. 1948 41

Progressive signs of ataxia in a eight year old girl with hypo-active knee and ankle jerks, prompted the analysis of the frataxin gene (FXN; 606829). The most common molecular abnormality--GAA trinucleotide repeat expansion in intron 1--was found with +300 GAA repeats (1490 bp) (normal individuals have 5 to 30 GAA repeats expansions, whereas affected individuals have from 70 to more than 1000 GAA triplets). Additionally she had unstable gait with incoordination of limb movements, impairment of position and vibratory senses, dysarthria, pes cavus, positive Babinski sign and scoliosis. At the age of fourteen the girl was referred in a comatose condition, in severe diabetic ketoacidosis. Insulin dependent diabetes mellitus was since treated with insulin preparations. Electrocardiogram showed diffuse T wave inversion with sinus bradycardia, while ultrasound revealed concentric, symmetric hypertrophy of the left ventricle leading to the diagnosis of hypertrophic cardiomyopathy. At the age of 14, she is bound to the wheelchair, unable to walk. Her brother started to show ataxia at the age of 8 years and subsequent analysis also showed hypertrophic cardiomyopathy. His mutational analysis revealed the same frataxin abnormality with +300 GAA repeats. So far, no signs of diabetes occurred. The parental DNA was not available for analysis.
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PMID:Friedreich's ataxia (FA) associated with diabetes mellitus type 1 and hypertrophic cardiomyopathy: analysis of a FA family. 1953 71

A 24-year-old female who was recently diagnosed with Type 1 diabetes mellitus (TiD) presented with a five-year history of visible gait disturbance and slurred speech. Her neurologic examination was remarkable for dysarthria, bilateral nystagmus, dysdiadochokinesia, finger-nose incoordination, heel-knee incoordination, and ataxic gait. A brain MRI disclosed diffuse cerebellar atrophy. Her serum antiglutamic acid decarboxylase (GAD) antibody titer was elevated. Antinuclear antibody (ANA) test was positive with atiterofl:2560 and a speckledpattern. Genetictests for inherited ataxia, including Friedreich ataxia, were negative for mutations. Her cerebrospinal fluid (CSF) analysis revealed oligoclonal bands and she had a positive CSF GAD65 antibody. A diag- nosis of GAD antibody-induced cerebellar ataxia was considered. She developed GAD autoimmune antibody positive TiD during the course ofher dis- ease. GAD antibody-associated cerebellar ataxia is a rare entity, however it should be considered as a possibility in patients with associated autoimmune disease and positive anti-GAD antibody.
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PMID:High Titer of Circulating Antiglutamic Acid Decarboxylase Antibodies in a Patient with Cerebellar Ataxia and Type 1 Diabetes. 2977 59