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Biomedical subjects

A Urbano-Marquez

Publications and source records attributed to A Urbano-Marquez.

At least 19 recordsLinked to original sources

Usefulness of CT and MR imaging in the diagnosis of acute Wernicke's encephalopathy.

OBJECTIVE: In this study, we analyzed the sensitivity and specificity of CT and MR imaging in the diagnosis of acute Wernicke's's encephalopathy. SUBJECTS AND METHODS: Three groups of subjects were studied: 15 patients with acute Wernicke's encephalopathy; 15 asymptomatic alcoholics; and 15 control subjects. Studies included clinical and laboratory examinations as well as CT and MR imaging of the brain. RESULTS: On CT scans, two patients with Wernicke's encephalopathy (13%) and no asymptomatic alcoholics showed low-density abnormalities in the paraventricular regions of the thalamus (p = .2414). On MR imaging, increased T2 signal of paraventricular regions of the thalamus was observed in seven patients (46%) with Wernicke's encephalopathy and one asymptomatic alcoholic (6%) (p < .01), and increased T2 signal of periaqueductal regions of the midbrain in six patients (40%) with Wernicke's encephalopathy and one asymptomatic alcoholic (6%) (p < .05). However, no significant differences were observed in the prevalence of mamillary body shrinkage between alcoholics with Wernicke's encephalopathy (six [40%]) and asymptomatic chronic alcoholics (four [27%]). The sensitivity of MR imaging in revealing evidence of this disease was 53% and the specificity, 93%. CONCLUSION: MR imaging is useful in confirming the diagnosis of acute Wernicke's encephalopathy. However, the absence of abnormalities on MR imaging does not exclude this diagnosis. CT proved not useful in the diagnosis of Wernicke's encephalopathy.

Alcoholism↗

Reduced steady-state levels of mitochondrial RNA and increased mitochondrial DNA amount in human brain with aging.

The contribution of the mitochondrial genetic system in the degenerative processes of senescence remains unclear. This study deals with age-related changes in brain mtDNA expression in humans. Brain tissue from the frontal lobe cortex was obtained from autopsy of 13 humans aged between 21 and 84 years. No structural changes were detected in mtDNA, increased mtDNA content and reduced steady-state level of mitochondrial transcripts and transcription ratio (mtRNA/mtDNA) were associated with aging. These findings suggest that the increase of the mtDNA levels could be considered as an inefficient compensatory mechanism to maintain the normal levels of mtRNA transcripts. This unbalanced mitochondrial condition could play a role in the process of senescence in human brain.

Adult↗

High amplitude contractions in the middle third of the oesophagus: a manometric marker of chronic alcoholism?

BACKGROUND: Oesophageal motor abnormalities have been reported in alcoholism. AIM: To investigate the effects of chronic alcoholism and its withdrawal on oesophageal disease. PATIENTS: 23 chronic alcoholic patients (20 men and three women; mean age 43, range 23 to 54). METHODS: Endoscopy, manometry, and 24 hour pH monitoring 7-10 days and six months after ethanol withdrawal. Tests for autonomic and peripheral neuropathy were also performed. Motility and pH tracings were compared with those of age and sex matched control groups: healthy volunteers, nutcracker oesophagus, and gastro-oesophageal reflux disease. RESULTS: 14 (61%) alcoholic patients had reflux symptoms, and endoscopy with biopsy showed oesophageal inflammation in 10 patients. One patient had an asymptomatic squamous cell carcinoma. Oesophageal motility studies in the alcoholic patients showed that peristaltic amplitude in the middle third was > 150 mm Hg (95th percentile (P95) of healthy controls) in 13 (57%), the ratio lower/ middle amplitude was < 0.9 in 15 (65%) (> 0.9 in all control groups), and the lower oesophageal sphincter was hypertensive (> 23.4 mm Hg, P95 of healthy controls) in 13 (57%). All three abnormalities were present in five (22%). Abnormal reflux (per cent reflux time > 2.9, P95 of healthy controls) was shown in 12 (52%) alcoholic patients, and was unrelated to peristaltic dysfunction. Subclinical neuropathy in 10 patients did not effect oesophageal abnormalities. Oesophageal motility abnormalities persisted at six months in six patients with ongoing alcoholism, whereas they reverted towards normal in 13 who remained abstinent; reflux, however, was unaffected. CONCLUSIONS: Oesophageal peristaltic dysfunction and reflux are frequent in alcoholism. High amplitude contractions in the middle third of the oesophagus seem to be a marker of excessive alcohol consumption, and tend to improve with abstinence.

Adult↗

Autosomal recessive Wolfram syndrome associated with an 8.5-kb mtDNA single deletion.

Wolfram syndrome (MIM 222300) is characterized by optic atrophy, diabetes mellitus, diabetes insipidus, neurosensory hearing loss, urinary tract abnormalities, and neurological dysfunction. The association of clinical manifestations in tissues and organs unrelated functionally or embryologically suggested the possibility of a mitochondrial implication in the disease, which has been demonstrated in two sporadic cases. Nonetheless, familial studies suggested an autosomal recessive mode of transmission, and recent data demonstrated linkage with markers on the short arm of human chromosome 4. The patient reported here, as well as her parents and unaffected sister, carried a heteroplasmic 8.5-kb deletion in mtDNA. The deletion accounted for 23% of mitochondrial genomes in lymphocytes from the patient and approximately 5% in the tissues studied from members of her family. The presence of the deletion in the patient in a proportion higher than in her unaffected parents suggests a putative defect in a nuclear gene that acts at the mitochondrial level.

Base Sequence↗

Autonomic and peripheral neuropathies in patients with chronic alcoholism. A dose-related toxic effect of alcohol.

OBJECTIVE: To assess autonomic and peripheral nervous system function in patients with chronic alcoholism. DESIGN: A cross-sectional study. PATIENTS: A consecutive sample of 107 alcoholic patients and 61 controls. MAIN OUTCOME MEASURE: For autonomic assessment, heart rate variations during deep breathing and Valsalva maneuver and on standing were measured. Blood pressure response to standing up and to sustained handgrip were also evaluated. For assessment of the peripheral nervous system, an electrophysiologic examination was performed. RESULTS: Alcoholic patients exhibited reduced heart rate variability compared with controls (P < .01, on all parasympathetic tests), whereas no differences in the mean values of the blood pressure responses between both groups were found. Twenty-six patients (24.3%) had criteria of autonomic neuropathy, and 34 (32%) had electrophysiologic criteria of peripheral neuropathy. None of the controls exhibited criteria of autonomic neuropathy, and only one had criteria of peripheral neuropathy. The estimated total lifetime dose of alcohol correlated inversely with the parasympathetic indexes (r = -.48 to -.51; P < .001 on all parasympathetic tests) and the sensory potential amplitudes of upper and lower limbs (r = -.43; P < .001, both limbs). Finally, a significant correlation between autonomic and peripheral neuropathies was observed (P = .01). By contrast, these lesions were not related to age, nutritional status, or other alcohol-related diseases. CONCLUSIONS: Autonomic and peripheral neuropathies are common among hospitalized alcoholic patients. Alcohol appears to be toxic to autonomic and peripheral nerves in a dose-dependent manner.

Adolescent↗

The relation of alcoholic myopathy to cardiomyopathy.

OBJECTIVE: To evaluate the relation between skeletal muscle disease (myopathy) and degenerative changes in cardiac muscle (cardiomyopathy) in patients with chronic alcoholism. DESIGN: A cross-sectional study. SETTING: University medical center. PARTICIPANTS: Group A included 24 patients with chronic alcoholism who had dilated cardiomyopathy; group B, 24 patients with chronic alcoholism who had normal cardiac function; group C, 12 patients with dilated cardiomyopathy because of coronary heart disease; group D, 12 patients with idiopathic dilated cardiomyopathy; group E, 24 normal participants; and group F, 5 young men who died suddenly in traffic accidents. MEASUREMENTS: Clinical assessment of muscle strength, echocardiography, radionuclide cardiac angiography (groups A to E), muscle biopsy (groups A, B, E), endomyocardial biopsy of the left ventricle (group A), and examination of postmortem specimens of the left ventricle (group F). RESULTS: Alcoholic patients with cardiomyopathy had less muscle strength than did alcoholic patients with normal cardiac function, patients with idiopathic dilated cardiomyopathy, and patients with coronary heart disease (all P < 0.01). Among alcoholic patients with cardiomyopathy, 20 of 24 (83%) had histologic findings of skeletal myopathy compared with 1 of 24 (4%) alcoholic patients with normal cardiac function (P < 0.001). Interstitial fibrosis occurred in all cardiac biopsy specimens, hypertrophy of the myocytes occurred in 95%, and myocytolysis occurred in 83%. Those patients with more severe cellular hypertrophy and interstitial fibrosis of the myocardium had a greater decrease in deltoid muscle strength and had worse histologic myopathy. CONCLUSIONS: Diseases of skeletal and cardiac muscle in patients with chronic alcoholism are clinically and histologically related. The presence of muscle weakness in an alcoholic person suggests the likelihood of an accompanying cardiomyopathic abnormality.

Adult↗

Alcoholic cardiomyopathy.

Chronic alcoholism is one of the most important causes of dilated cardiomyopathy, and a large proportion of chronic alcoholics demonstrate impairment of cardiac function. The development of cardiac dysfunction is apparently related to the total lifetime dose of ethanol. Studies in experimental animals have demonstrated that both acute and chronic ethanol administration impair cardiac contractility. However, the relationship, if any, between the acute effects of alcohol and the development of irreversible cardiomyopathy remain to be elucidated.

Alcohol Drinking↗

Patients with chronic glucocorticoid treatment develop changes in muscle glycogen metabolism.

High dose glucocorticoid may induce a significant myopathy with loss of thick myofilament from muscle, particularly if administered in conjunction with depolarizing drugs. Remarkably, the effect of chronic low dose glucocorticoid in muscle is vastly different, although it may induce changes in muscle glycogen metabolism as evidenced in animal experimental trials. However, there is no clear confirmation that these changes could develop similarly in patients. We evaluate clinical, functional, histological and metabolic muscle changes during chronic low-dose glucocorticoid treatment in 11 asthmatic patients. Remarkably, these patients did not develop clinical symptoms of myopathy nor significant muscle weakness or morphological changes in muscle histology. However, glycogen concentration and the activity of the main regulatory enzymes of glycogen metabolism, aldolase and creatine kinase were modified in comparison with controls. An increase in the synthesis and muscle cell deposition of glycogen and a decrease in the muscle glycogen degradation process have been suggested. These changes were not related with malnutrition. There was not correlation between histological and biochemical changes. We conclude that chronic treatment with glucocorticoid causes clear changes in glycogen metabolism in the skeletal muscle, resulting in glycogen muscle storage. The significance of these biochemical changes is unknown, but it can be well an associated phenomenon with glucocorticoid treatment.

Adult↗

Regional cerebral blood flow-SPECT in chronic alcoholism: relation to neuropsychological testing.

To determine the prevalence of central nervous system damage due to ethanol, we evaluated 40 asymptomatic chronic alcoholics and 20 age-matched controls. Studies included neuropsychological testing, brain 99mTc-HMPAO SPECT, and morphometric analysis by CT scan. In the qualitative analysis, 30 of the 40 alcoholics showed hypoperfused areas on SPECT scan. In the semiquantitative analysis, alcoholics exhibited significant reduction in regional cerebral blood flow (rCBF) ratio of all brain lobes compared to controls (p < 0.001). The rCBF ratio was mainly reduced in frontal lobes (65%). Only 11 alcoholics showed significant frontal lobe atrophy in the morphometric analysis; most also had abnormalities on SPECT scan. Alcoholics exhibited significant impairment of frontal tasks and visuospatial skills. Frontal test impairment was independently related to both frontal atrophy and hypoperfusion. In a group of ten alcoholics in whom another SPECT scan was performed after 2 mo of ethanol abstinence, rCBF ratio of the frontal lobes normalized in eight, without frontal atrophy. In patients without frontal atrophy, reduced rCBF ratio of the anterior portion of the frontal lobes correlated negatively with frontal test results (r = -0.6535, p < 0.001). A significant negative correlation between cerebral perfusion and the amount of ethanol consumed in the month prior to study was observed (r = -0.6289, p < 0.001). In conclusion, asymptomatic chronic alcoholics frequently showed reversible frontal lobe hypoperfusion, which is related to recent ethanol intake, reflects brain function impairment and is independent of brain atrophy.

Adult↗

Adult-onset mitochondrial myopathy.

Mitochondrial diseases are polymorphic entities which may affect many organs and systems. Skeletal muscle involvement is frequent in the context of systemic mitochondrial disease, but adult-onset pure mitochondrial myopathy appears to be rare. We report 3 patients with progressive skeletal mitochondrial myopathy starting in adult age. In all cases, the proximal myopathy was the only clinical feature. Mitochondrial pathology was confirmed by evidence of ragged-red fibres in muscle histochemistry, an abnormal mitochondrial morphology in electron microscopy and by exclusion of other underlying diseases. No deletions of mitochondrial DNA were found. We emphasize the need to look for a mitochondrial disorder in some non-specific myopathies starting in adult life.

Aged↗

High ethanol consumption as risk factor for intracerebral hemorrhage in young and middle-aged people.

We examined the prevalence of high ethanol intake, hypertension, and other risk factors for intracerebral hemorrhage in a case-control study of 24 young and middle-aged patients with intracerebral hemorrhage. We recorded ethanol consumption, history of hypertension, liver disease, cigarette smoking, and mild or severe coagulation disorder in each case of intracerebral hemorrhage and in 48 control patients matched by sex and age. In univariate matched analyses, the frequencies of high ethanol intake (p = 0.009), hypertension (p = 0.05), and coagulation disorder (p = 0.05) were higher in the cases than in the controls. After controlling for possible confounding factors, we found that high ethanol intake and hypertension were the only independent risk factors for intracerebral hemorrhage (p = 0.02 and p = 0.05, respectively). The hemorrhagic lesion found in cases with a high ethanol intake tended to be located in the cerebral lobes (p = 0.01), contrasting with the typical basal ganglia location of hypertensive hematomas (p = 0.009). We conclude that chronic, high ethanol intake should be considered as an important risk factor for lobar hematomas in young and middle-aged people.

Adult↗

The effects of alcoholism on skeletal and cardiac muscle.

To determine the prevalence of alcoholic myopathy and cardiomyopathy, we studied a group of 50 asymptomatic alcoholic men (mean age, 38.5 years) entering an outpatient treatment program. Studies performed included an assessment of muscle strength by electronic myometer, muscle biopsy, echocardiography, and radionuclide cardiac scanning, with comparison to healthy control subjects of similar age. The patients' mean (+/- SEM) daily alcohol consumption was 243 +/- 13 g over an average of 16 years. These patients had no clinical or laboratory signs of malnutrition or electrolyte imbalance. Forty-two percent of the patients, as compared with none of the controls, had strength of less than 20 kg as measured in the deltoid muscle. Muscle-biopsy specimens from 23 patients (46 percent) had histologic evidence of myopathy. In the cardiac studies, when the alcoholic patients were compared with 20 healthy controls, the patients had a significantly lower mean ejection fraction (59 vs. 67 percent), a lower mean shortening fraction (33 vs. 38 percent), a greater mean end-diastolic diameter (51 vs. 49 mm), and a greater mean left ventricular mass (123 vs. 106 g per square meter of body-surface area). One third of the alcoholics had an ejection fraction of 55 percent or less, as compared with none of the controls. Endomyocardial biopsy specimens from six patients with ejection fractions below 50 percent showed histologic changes of cardiomyopathy. The estimated total lifetime dose of ethanol correlated inversely with muscular strength (r = -0.65; P less than 0.001). In an analysis that also included six patients with symptomatic alcoholic cardiomyopathy, the estimated total lifetime dose of ethanol correlated inversely with the ejection fraction (r = -0.58; P less than 0.001) and directly with the left ventricular mass (r = 0.59; P less than 0.001). We conclude that myopathy of skeletal muscle and cardiomyopathy are common among persons with chronic alcoholism and that alcohol is toxic to striated muscle in a dose-dependent manner.

Adult↗

Effects of ethanol and acetaldehyde on the enzymes of glycogen metabolism.

This report concerns a study of the effect of ethanol and acetaldehyde on the regulatory enzymes of glycogen metabolism. It demonstrates an inhibition of glycogen phosphorylase kinase at pH 6.8 at a very low concentration of ethanol. There was no effect of acetaldehyde on this enzyme. Neither ethanol not acetaldehyde has been shown to have any effect on glycogen synthase, glycogen phosphorylase, protein phosphatase or independent and cAMP-dependent protein kinases. This inhibition could explain the high concentration of glycogen in the muscle tissue of chronic alcoholics that is found when ethanol is present in skeletal muscle.

Acetaldehyde↗