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)

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

Good blood glucose control is important to people with type 1 diabetes to prevent diabetes-related complications. Too much blood glucose (hyperglycaemia) causes long-term micro-vascular complications, while a severe drop in blood glucose (hypoglycaemia) can cause life-threatening coma. Finding the right balance between quantity and type of food intake, physical activity levels and insulin dosage, is a daily challenge. Increased physical activity levels often cause changes in blood glucose due to increased glucose uptake into tissues such as muscle. To date we have limited knowledge about the minute by minute effects of exercise on blood glucose levels, in part due to the difficulty in measuring glucose and physical activity levels continuously, in a free-living environment. By using a light and user-friendly armband we can record physical activity energy expenditure on a minute-by-minute basis. Simultaneously, by using a continuous glucose monitoring system we can record glucose concentrations. In this paper, Gaussian Processes are used to model the glucose excursions in response to physical activity data, to study its effect on glycaemic control.
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PMID:Gaussian Process modelling of blood glucose response to free-living physical activity data in people with type 1 diabetes. 1996 37

Diabetic ketoacidosis is a common life-threatening complication, which usually occurs in patients with type 1 diabetes, but it may also occur in those with type 2 diabetes during severe concurrent illness, such as sepsis, myocardial infarction or corticosteroid treatment. This article provides an overview of the diagnosis, pathophysiology and management of diabetic ketoacidosis. The differential diagnosis and treatment of hyperosmolar non-ketotic coma is also discussed, as is the nurse's role in promoting and providing health education to patients with diabetic ketoacidosis.
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PMID:Managing diabetic ketoacidosis. 2049 Dec 49

This study describes the profile of 100 cases of diabetic ketoacidosis (DKA) at a teaching hospital in 1 Benghazi, Libyan Arab Jamahiriya. DKA was more frequent in young women with type 1 diabetes and mostly due to preventable causes, e.g., disrupted insulin treatment and/or infection. DKA also occurred in type 2 diabetics, with a higher mortality rate, as they were older patients with co-morbidity. Polyurea, fatigue, abdominal pain and vomiting were the most common clinical features, while coma was rarer. A high number of cases were first presentations of type 1 diabetes; hence this diagnosis should be considered in all patients with acute abdomen or decreased level of consciousness. The reasons for high mortality rate in this study (10%) were multifactorial.
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PMID:Profile of diabetic ketoacidosis at a teaching hospital in Benghazi, Libyan Arab Jamahiriya. 2079 43

Hypoglycemia is one of the most common acute complications in the treatment of type 1 diabetes. It is the result of a mismatch between insulin dose, food consumed, and recent exercise. Hypoglycemia occurs more frequently in younger children and with lower HbA1c levels. Symptoms of hypoglycemia result from autonomic (adrenergic) activation and/or neurological dysfunction (neuroglycopenia). Severe hypoglycemia means that the child is having altered mental status and cannot assist in his care, is semiconscious or unconscious, or in coma--convulsions and may require parenteral therapy (glucagon or i.v. glucose). The blood glucose threshold for symptoms may be affected by antecedent hypoglycemia, duration of diabetes with decrease in neurohormonal counterregulatory responses. This phenomenon is termed hypoglycemia unawareness and is an important cause of severe hypoglycemia. Fortunately, there is absence of adverse effects of severe hypoglycemia on cognitive function in children with diabetes over 18 months, even if some controversies exist. Severe hypoglycemia is rapidly reversed by injection of glucagon 0.5 mg if < 25 kg, 1.0 mg if > 25 kg. In the hospital, intravenous infusion of glucose should be administered, e.g. glucose 10%, 2-5 mg/kg/min (1.2-3.0 ml/kg).
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PMID:[Severe hypoglycemia in children and adolescents with type 1 diabetes: risks factors and management]. 2181 17

For patients with Type 1 Diabetes Mellitus (T1DM), hypoglycemia is a very common but dangerous complication which can lead to unconsciousness, coma and even death. The variety of hypoglycemia symptoms is originated from the inadequate supply of glucose to the brain. In this study, we explore the connection between hypoglycemic episodes and the electrical activity of neurons within the brain or electroencephalogram (EEG) signals. By analyzing EEG signals from a clinical study of five children with T1DM, associated with hypoglycemia at night, we find that some EEG parameters change significantly under hypoglycemia condition. Based on these parameters, a method of detecting hypoglycemic episodes using EEG signals with a feed-forward multi-layer neural network is proposed. In our application, the classification results are 72% sensitivity and 55% specificity when the EEG signals are acquired from 2 electrodes C3 and O2. Furthermore, signals from different channels are also analyzed to observe the contributions of each channel to the performance of hypoglycemia classification.
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PMID:Identification of hypoglycemic states for patients with T1DM using various parameters derived from EEG signals. 2225 13

Diabetic ketoacidosis (DKA) is an acute and serious metabolic complication of type 1 diabetes. Caused by severe insulin deficiency leading to hyperglycaemia, DKA is the most common cause of mortality in people with type 1 diabetes under the age of 40. It causes nausea and vomiting, hypothermia, hypotension, cardiac arrhythmia, tachycardia, deep and rapid breathing and, if untreated, can lead to cerebral oedema, coma and death. The survival of patients with DKA can depend, therefore, on the ability of emergency nurses to recognise its signs and symptoms. The most urgent treatment outcomes in emergency settings are the reversal of ketosis and hyperglycaemia, and the prevention of hypokalaemia and hyponatraemia, and these should be followed by hourly biochemical tests to determine treatment alterations. This article describes DKA and how patients with the condition usually present, and outlines its treatment by emergency nurses.
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PMID:Diagnosis and treatment of diabetic ketoacidosis. 2324 77

Hypoglycemia is the most common but highly feared side effect of the insulin therapy for patients with Type 1 Diabetes Mellitus (T1DM). Severe episodes of hypoglycemia can lead to unconsciousness, coma, and even death. The variety of hypoglycemic symptoms arises from the activation of the autonomous central nervous system and from reduced cerebral glucose consumption. In this study, electroencephalography (EEG) signals from five T1DM patients during an overnight clamp study were measured and analyzed. By applying a method of feature extraction using Fast Fourier Transform (FFT) and classification using neural networks, we establish that hypoglycemia can be detected non-invasively using EEG signals from only two channels. This paper demonstrates that a significant advantage can be achieved by implementing adaptive training. By adapting the classifier to a previously unseen person, the classification results can be improved from 60% sensitivity and 54% specificity to 75% sensitivity and 67% specificity.
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PMID:An adaptive strategy of classification for detecting hypoglycemia using only two EEG channels. 2336 85

OBJECTIVE Hypoglycemia unawareness (HU) affects ~25% of people with type 1 diabetes. People with HU are often reliant on family to detect hypoglycemia and treat severe episodes. We explored the impact of HU on family members' lives, their involvement in preventing and managing hypoglycemia, and their information and support needs. RESEARCH DESIGN AND METHODS This study employed an exploratory, qualitative design comprising in-depth interviews with 24 adult family members of persons with type 1 diabetes and HU. RESULTS Family members described restricting their lives so that they could help the person with HU detect and treat hypoglycemia. Some described being very physically afraid of their partner/relative when they had a hypoglycemic episode due to their aggressive and argumentative behavior and personality changes; this could also make treatment administration difficult. Family members also reported feeling anxious and worried about the safety of the person with HU, particularly when they were left unsupervised. These concerns were often precipitated by traumatic events, such as discovering the person with HU in a coma. Family members could neglect their own health and well-being to care for the person with HU and resentment could build up over time. Family members highlighted extensive, unmet needs for information and emotional support; however, some struggled to recognize and accept their own need for help. CONCLUSIONS Our findings reveal a caregiver group currently "in the shadow of the patient" and in urgent need of information and emotional support. Raising awareness among health care professionals is essential, and developing proactive support for family should be considered.
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PMID:Experiences, views, and support needs of family members of people with hypoglycemia unawareness: interview study. 2399 May 15


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