Subject(s)
Male , Animals , Female , Ascorbic Acid/metabolism , Aquaculture/methods , Stress, Physiological , Smegmamorpha/metabolism , Transportation , Mexico , Fisheries/methodsABSTRACT
Arylsulfatase (ASA) enzyme deficiency is associated with metachromatic leukodystrophy (MLD), which is a hereditary myelin metabolic disease. It has been proposed that in alcoholic subjects with abnormal ASA, the accumulation of sulfatides may lead to demyelinization and generalized cerebral atrophy. ASA may be diminished in subjects with alcoholic cirrhosis having encephalopathic manifestations. This idea has not been previously proposed. Leukocyte arylsulfatase A (ASA) activity was measured in 30 healthy male volunteers and 28 patients with alcohol-related cirrhosis. The patients were divided into two groups: patients with alcohol-related cirrhosis with hepatic encephalopathy history and patients with alcoholic cirrhosis without history of hepatic encephalopathy. Alcoholic cirrhotic patients with history of encephalopathy showed 58.21% (40.95 nmol/mg protein/h) less enzymatic activity than a control group (98.00 nmol/mg protein/h), whereas the group without history of encephalopathy showed an ASA value which was 38.2% (60.55 nmol/mg protein/h) less than the control group. The results suggest that the low ASA activity is a factor associated to the appearance of encephalopathy in patients with alcohol-related cirrhosis.
Subject(s)
Cerebroside-Sulfatase/analysis , Cerebroside-Sulfatase/deficiency , Hepatic Encephalopathy/etiology , Leukocytes/chemistry , Leukocytes/enzymology , Liver Cirrhosis, Alcoholic/complications , Liver Cirrhosis, Alcoholic/enzymology , Adult , Aged , Case-Control Studies , Chronic Disease , Hepatic Encephalopathy/classification , Hospitalization/statistics & numerical data , Humans , Liver Cirrhosis, Alcoholic/blood , Liver Cirrhosis, Alcoholic/diagnosis , Male , Middle Aged , Risk Factors , Severity of Illness IndexABSTRACT
BACKGROUND: The goal of this study was to find the association between low arylsulfatase A (ASA) activity and psychiatric disorders in chronic alcoholic patients. METHODS: The study was carried out in 30 chronic alcoholic patients (27 male, 3 female); age range was 25-65 years. There were 20 normal controls (18 males, 2 females), and age range was 24-67 years. ASA and routine aspartate aminotransferase (AST) and alanine aminotransferase (ALT) activity laboratory tests were measured in blood serum from all patients and control subjects. RESULTS: Alcoholic patients with psychiatric disorders have ASA average values of 68.25 nmol/mL/4 h. This is less than averages found in the alcoholics without psychiatric disorders group (82.48 nmol/mL/4 h) and the control group (90.8 nmol/mL/4 h). There were no statistically significant differences among the three groups studied. Alcoholic subjects with elevated activity of AST and ALT (n = 10) have ASA activity average values of 134.82 nmol/mL/4 h), which is 48.8% higher than the control group (90.6 nmol/mL/4 h). These means show statistically significant differences (p <0.05). CONCLUSIONS: Results indicate an association between low serum ASA activity and alcoholism. The appearance of psychiatric manifestations could be related to the low activity of this enzyme in chronic alcoholic patients. Alcoholic patients with elevated enzyme activity of AST and ALT in sera also have elevated sera arylsulfatase A (ASA) activity. We consider that these findings may be useful for evaluating the psychiatric state as a prognosis in chronic alcoholic patients, and should be a routine laboratory test in alcoholic patients.
Subject(s)
Alcoholism/enzymology , Cerebroside-Sulfatase/blood , Clinical Enzyme Tests , Mental Disorders/chemically induced , Adult , Aged , Alanine Transaminase/blood , Alcohol-Induced Disorders, Nervous System/diagnosis , Alcohol-Induced Disorders, Nervous System/enzymology , Alcoholism/complications , Alcoholism/psychology , Anxiety Disorders/chemically induced , Anxiety Disorders/complications , Anxiety Disorders/enzymology , Aspartate Aminotransferases/blood , Bipolar Disorder/complications , Bipolar Disorder/enzymology , Female , Hallucinations/chemically induced , Hallucinations/enzymology , Humans , Male , Mental Disorders/complications , Mental Disorders/enzymology , Middle Aged , Paranoid Disorders/chemically induced , Paranoid Disorders/complications , Paranoid Disorders/enzymology , PrognosisSubject(s)
Metacarpus/abnormalities , Toes/abnormalities , Adult , Chromosome Aberrations/genetics , Chromosome Disorders , Female , Genes, Dominant , Humans , Infant, Newborn , SyndromeABSTRACT
Se describe una familia que presento en un progenitor braquidactilia tipo "E" y en una hija polidactilia postaxial tipo "A".Esta observacion confirma una disostosis autosomica dominante heterogenea caracterizada por braquidactilia polisindactilia, descrita por Holt, cuyo nombre se propone para designar el sindrome
Subject(s)
Infant, Newborn , Humans , Abnormalities, Multiple , ExtremitiesABSTRACT
Two unrelated males of 16 and 8 years of age with acrodysostosis were studied. They showed short stature, broad and hypoplastic nose and severe acromelic shortness. X-ray studies revealed bilateral brachymetacarpaly, brachymetatarsalia and brachyphalangia with hyperplasia of the first ray in hands and feet. Psychometric studies revealed an IQ of 85, the highest observed in the 22 cases so far reported. The variable expressivity of the syndrome is discussed on this basis. The hypothesis of an autosomal dominant "de novo" mutation as the cause of the entity is supported by the finding of increased paternal age.
