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

A new autosomal dominant syndrome in a Swedish pedigree is described. Five patients were affected with cerebellar ataxia and sensorineural deafness. Four of these patients had symptoms of narcolepsy. Optic atrophy, other neurological abnormalities and psychiatric symptoms developed with increasing disease duration. Three patients had non-neurological disease in addition, including diabetes mellitus in two and hypertrophic cardiomyopathy in one. Autopsy with neuropathological examination was performed in one case. Molecular studies focused on the short arm of chromosome 6, including the HLA DR2 locus associated with narcolepsy and the (CAG)n repeat at the spinocerebellar ataxia type 1 (SCA1) locus. Biochemical investigation of muscle biopsy of one case indicated mitochondrial dysfunction with selective decrease in ATP production for substrates that normally give the highest rates. The activity of glutamate dehydrogenase was reduced, indicating a low mitochondrial density. We postulate an autosomal dominant genetic factor responsible for this syndrome. Linkage was excluded to HLA DR2, and a normal sized SCA1 repeat was observed. We conclude that a locus predisposing to ataxia, deafness and narcolepsy exists outside this region of chromosome 6.
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PMID:Autosomal dominant cerebellar ataxia deafness and narcolepsy. 874 54

This review is based on longitudinal studies on our seven patients with congenital generalized lipodystrophy, our patient with acquired generalized lipodystrophy, and published papers on these subjects. An inability to store energy in adipose tissue is of pathogenetic importance. In congenital lipodystrophy, insulin resistance is present from birth, resulting in hyperinsulinaemia, dyslipidaemia. and insulin-resistant diabetes with an anabolic syndrome worsened by a voracious appetite. Clinically, we observed increased height velocity in pre-school age children, and organomegaly with hypertrophic cardiomyopathy, which seems to be lethal in early adulthood: three of our patients died at the ages of 24, 32 and 37 years. The oldest alive, 39 years, suffers from stenocardia. Regarding treatment, it is most important to reduce energy consumption. The congenital form is recessively inherited. The aetiology may be related to insulin receptor or postreceptor mechanisms. Acquired generalized lipodystrophy seems to be an autoimmune disorder with secondary destruction of the adipose organ: the anabolic syndrome with insulin-resistant diabetes is secondary. Our patient died when 24 years old from pneumonia.
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PMID:Generalized lipodystrophy, congenital and acquired (lipoatrophy). 878 69

Although hypertrophic cardiomyopathy (HC) is readily diagnosed by echocardiography in infants with isolated ventricular hypertrophy, echocardiographic predictors of outcome have not been described in this age group. To identify echocardiographic predictors of poor outcome of infants with HC, we reviewed medical records and echocardiograms of all 19 patients with HC aged <1 year seen at the University of California, San Francisco, from January 1981 through December 1995. Thickness of the ventricular septum and the left ventricular (LV) posterior wall, ventricular septum/LV posterior wall ratio, LV mass, LV volume, LV mass/volume ratio, LV ejection fraction, and right ventricular anterior wall thickness were measured. The median age at diagnosis was 1 day; 11 were boys and 8 were girls. Within 1 year after birth, 10 patients died: the other 9 patients have survived to > 12 months of age. At the initial postnatal examination, the Z value for LV posterior wall was larger (median, 5.2 vs 1.3, p <0.04) and, consequently, the ventricular septum/LV posterior wall ratio was lower (1.6 vs 2.3, p <0.04) in nonsurvivors than in survivors. In serial studies, the Z value for both the ventricular septum and the LV posterior wall thickness increased in nonsurvivors, but decreased in survivors. Nonsurvivors had intrinsic metabolic disease or Noonan syndrome. Survivors had classic HC or maternal diabetes. We conclude that, in infants with HC, early or progressive hypertrophy of the LV posterior wall is a predictor of poor outcome, regardless of associated disease.
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PMID:Echocardiographic predictors of poor outcome in infants with hypertrophic cardiomyopathy. 929 88

Atrial fibrillation (AF) is in most patients (approximately 70%) associated with organic heart disease including valvular heart disease, coronary artery disease, hypertension, hypertrophic cardiomyopathy, dilated cardiomyopathy, and congenital heart disease, mostly atrial septal defect in adults. In many chronic conditions, determining whether AF is the result or is unrelated to the underlying heart disease, remains unclear. The list of possible etiologies also include cardiac amyloidosis, hemochromatosis and endomyocardial fibrosis. Other heart diseases, such as mitral valve prolapse (without mitral regurgitation), calcifications of the mitral annulus, atrial myxoma, pheochomocytoma, and idiopathic dilated right atrium may present with AF. Atrial fibrillation may occur in the absence of detectable organic heart disease, the so-called "lone AF", in about 30% of cases. The term "idiopathic AF" implies the absence of any detectable etiology including hyperthyroidism, chronic obstructive lung disease, overt sinus node dysfunction, and overt or concealed preexcitation (Wolff-Parkinson-White syndrome), only to mention a few of other uncommon causes of AF. The autonomous nervous system may contribute to the occurrence of AF in some patients. AF occurs commonly. In patients with valvular heart disease, AF is common, particularly when the mitral valve is involved. The occurrence of AF is unrelated to the severity of mitral stenosis or mitral regurgitation but is more common in patients with enlarged left atrium and congestive heart failure. In patients with coronary artery disease, AF occurs predominantly in older patients, males, and patients with left ventricular dysfunction, Important predictive factors of AF include hypertension, left ventricular hypertrophy and diabetes. The risk of the development of AF, in an individual patient, is often difficult to assess. Increasing age, presence of valvular heart disease, and congestive heart failure increase the risk of atrial fibrillation.
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PMID:Factors predisposing to the development of atrial fibrillation. 935 13

Our former studies concerning mitochondrial DNA mutations were reviewed in this article. A 7.4 kb deletion between the D-loop and ATPase 6 genes was detected in myocardial tissue obtained at autopsy from patients with myocardial infarction, diabetes mellitus and also patients treated with adriamycin. A case with diabetes mellitus and hypertrophic cardiomyopathy is demonstrated which revealed a point mutation from adenine to guanine at position 3243 within tRNA Leu(UUR).
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PMID:Cardiomyopathies and mitochondrial DNA mutations. 940 74

Hypertrophic cardiomyopathy is rare in neonates. The causes include metabolic disease, maternal diabetes, dexamethasone therapy in premature newborns for bronchopulmonary dysplasia and idiopathic hypertrophic cardiomyopathy. The authors present a case report regarding a neonate with transient hypertrophic cardiomyopathy, after acute fetal distress. Signs of congestive cardiac failure appeared at day 1. Echocardiography showed signs of mild pulmonary hypertension and normal ventricular wall thickness. Echocardiography on day 2 showed hypertrophy of myocardial walls affecting first the right ventricular anterior wall and the interventricular septum, followed by the left ventricular posterior wall. With therapy, clinical improvement was noted on day 4. The ventricular wall thickness was almost normal at three weeks. The authors alert physicians to the importance of echocardiographic examination of these neonates.
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PMID:[Transient hypertrophic neonatal myocardiopathy after acute fetal distress]. 958 May 9

In the present study blood pressure was measured in cats comparing two indirect methods (oscillometric versus Doppler-sonographic) over a wide pressure range. It was shown, that at the lower pressures Doppler and oscillometric measurements were basically equivalent. However for higher pressures oscillometric measurements were consistently lower than Doppler measurements. This difference became greater as blood pressure increased. The determination of blood pressure by the Doppler-sonographic method was always possible, whereas the measurement by the oscillometric method was often not possible, especially at higher blood pressure levels. In a second step, the frequency of hypertension was determined in cats with diabetes mellitus, chronic renal failure and hypertrophic cardiomyopathy. Eight cats with diabetes mellitus had oszillometric blood pressure values of 101-155 mmHg systolic, 42-105 mmHg diastolic and 65-125 mmHg mean arterial pressure determined at the front leg and 110-167 mmHg systolic, 44-98 mmHg diastolic, and 61-125 mean arterial pressure determined at the tail. The Doppler-sonographic values were 120-180 mmHg. Only the oscillometric measurement (at the tail) of the systolic pressure was significantly higher than that of normal cats. In 11 cats with chronic renal failure the following values were determined by the oszillometric method: at the front leg 137-182 mmHg systolic, 74-138 mmHg diastolic, 100-162 mmHg mean arterial pressure and at the tail 134-189 mmHg systolic, 53-109 mmHg diastolic, 80-135 mmHg mean arterial pressure. With the Doppler-sonographic technique the blood pressure was between 120 and 280 mmHg. All blood pressure measurements were significantly higher than those of healthy cats, except the oscillometric measurements of diastolic blood pressure. In 12 cats with hypertrophic cardiomyopathy systolic pressure was 108-179 mmHg, diastolic pressure was 64-135 mmHg, and mean arterial pressure was 89-154 mmHg at the front leg using the oscillometric method. At the tail results were as follows: 121-201 mmHg systolic, 61-141 mmHg diastolic, and 85-160 mmHg mean arterial pressure. By the Doppler-sonographic technique determined blood pressure was 110-260 mmHg. All oscillometric measurements except the diastolic pressure determined at the front leg were significantly higher than in normal cats. Four cats with chronic renal failure and five cats with hypertrophic cardiomyopathy showed retinal hemorrhages and/or detachments. Eight of this nine cats had blood pressure measurements above the normal range. We conclude that hypertension can be detected in cats with several diseases. In most cases reliable measurements can only be obtained by Doppler-sonographic methods.
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PMID:[Indirect blood pressure measurement in cats with diabetes mellitus, chronic nephropathy and hypertrophic cardiomyopathy]. 958 82

Mitochondrial diseases are characterized by considerable clinical variability and are most often caused by mutations in mtDNA. Because of the phenotypic variability, epidemiological studies of the frequency of these disorders have been difficult to perform. We studied the prevalence of the mtDNA mutation at nucleotide 3243 in an adult population of 245,201 individuals. This mutation is the most common molecular etiology of MELAS syndrome (mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes), one of the clinical entities among the mitochondrial disorders. Patients with diabetes mellitus, sensorineural hearing impairment, epilepsy, occipital brain infarct, ophthalmoplegia, cerebral white-matter disease, basal-ganglia calcifications, hypertrophic cardiomyopathy, or ataxia were ascertained on the basis of defined clinical criteria and family-history data. A total of 615 patients were identified, and 480 samples were examined for the mutation. The mutation was found in 11 pedigrees, and its frequency was calculated to be >=16. 3/100,000 in the adult population (95% confidence interval 11.3-21. 4/100,000). The mutation had arisen in the population at least nine times, as determined by mtDNA haplotyping. Clinical evaluation of the probands revealed a syndrome that most frequently consisted of hearing impairment, cognitive decline, and short stature. The high prevalence of the common MELAS mutation in the adult population suggests that mitochondrial disorders constitute one of the largest diagnostic categories of neurogenetic diseases.
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PMID:Epidemiology of A3243G, the mutation for mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes: prevalence of the mutation in an adult population. 968 91

Atrial fibrillation (AF) is a common clinical problem, particularly in the elderly and in patients with organic heart disease. AF generally is classified into paroxysmal and chronic forms. Chronic AF can be the end result of paroxysmal AF in about 30% of patients. Paroxysmal AF can be defined as attacks of arrhythmia lasting < 7 days separated by prolonged periods of sinus rhythm. Chronic AF is AF established for > 7 days. Therefore, the differentiation of paroxysmal from chronic or established AF is based on the history of recurrent episodes and the duration of the current episode of AF. The first episode of persistent AF or the first discovery of AF often is referred to as recent onset AF. Most epidemiologic studies highly underestimate the incidence of paroxysmal and/or asymptomatic AF. The prevalence of AF varies with the age group and patient population studied. AF is found in 3% to 5% of the population > 60 years of age. AF is associated with organic heart disease in 70% to 80% of patients. Of the patients admitted to our Cardiology Division during 1 year, 15% of hospitalized patients had a documented history of AF. The risk of an individual patient developing AF often is difficult to assess, but increasing age and the presence of valvular heart disease and congestive heart failure increase the risk of AF. Other important predictive and causative factors of AF include hypertension, diabetes in women, left ventricular hypertrophy in both sexes, and coronary artery disease, mainly in older patients and patients with left ventricular dysfunction. Other causes of AF include coronary artery disease, hypertrophic cardiomyopathy and dilated cardiomyopathy, chronic obstructive pulmonary disease, pericarditis, and congenital heart disease such as left atrial myxoma and atrial septal. AF can occur in the absence of detectable organic heart disease, so-called "lone AF," in about 30% of cases. The term "idiopathic AF" implies the absence of any detectable etiology including hyperthyroidism, overt sinus node dysfunction, and overt or concealed preexcitation. Stroke is the most important factor of mortality and morbidity associated with AF. These epidemiologic data are essential for designing appropriate therapeutic treatment of this common arrhythmia.
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PMID:Epidemiology and classification of atrial fibrillation. 972 80

There are only a few reports concerning coexistent hypertrophic cardiomyopathy (HCM) and vasospastic angina. Clinical characteristics in patients with both diseases have not been clarified yet. This study was designed to elucidate the relationship between chest pain and coronary vasospasm in HCM patients and to delineate clinical characteristics in patients with both HCM and coronary vasospasm. First, 36 patients with HCM underwent acetylcholine provocation test for coronary vasospasm and were divided into two groups on the basis of presence or absence of coronary vasospasm. Next, the following risk factors for coronary artery disease were compared between the two groups: hypertension, smoking, hyperlipidemia, diabetes mellitus, and hyperuricemia. Coronary vasospasm was induced in 10 (28%) of 36 patients with HCM. There were no significant differences in age and male gender between the two groups. Smoking was more prominent in HCM patients with than without coronary vasospasm (80% vs 35%, p<0.05), but there were no differences in the prevalence of other risk factors between the two groups. In conclusion, coronary vasospasm appears to play a significant role in the etiology of myocardial ischemia in Japanese patients with HCM, and smoking might be a major risk factor for coexistence of HCM and coronary vasospasm.
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PMID:Clinical characteristics in Japanese patients with coexistent hypertrophic cardiomyopathy and coronary vasospasm. 978 50


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