RESUMO
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.
Assuntos
Cerebrosídeo Sulfatase/análise , Cerebrosídeo Sulfatase/deficiência , Encefalopatia Hepática/etiologia , Leucócitos/química , Leucócitos/enzimologia , Cirrose Hepática Alcoólica/complicações , Cirrose Hepática Alcoólica/enzimologia , Adulto , Idoso , Estudos de Casos e Controles , Doença Crônica , Encefalopatia Hepática/classificação , Hospitalização/estatística & dados numéricos , Humanos , Cirrose Hepática Alcoólica/sangue , Cirrose Hepática Alcoólica/diagnóstico , Masculino , Pessoa de Meia-Idade , Fatores de Risco , Índice de Gravidade de DoençaRESUMO
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.
Assuntos
Alcoolismo/enzimologia , Cerebrosídeo Sulfatase/sangue , Ensaios Enzimáticos Clínicos , Transtornos Mentais/induzido quimicamente , Adulto , Idoso , Alanina Transaminase/sangue , Transtornos do Sistema Nervoso Induzidos por Álcool/diagnóstico , Transtornos do Sistema Nervoso Induzidos por Álcool/enzimologia , Alcoolismo/complicações , Alcoolismo/psicologia , Transtornos de Ansiedade/induzido quimicamente , Transtornos de Ansiedade/complicações , Transtornos de Ansiedade/enzimologia , Aspartato Aminotransferases/sangue , Transtorno Bipolar/complicações , Transtorno Bipolar/enzimologia , Feminino , Alucinações/induzido quimicamente , Alucinações/enzimologia , Humanos , Masculino , Transtornos Mentais/complicações , Transtornos Mentais/enzimologia , Pessoa de Meia-Idade , Transtornos Paranoides/induzido quimicamente , Transtornos Paranoides/complicações , Transtornos Paranoides/enzimologia , PrognósticoRESUMO
Metachromatic leukodystrophy (MLD) is a degenerative disease caused by the deficiency of aryl sulfatase (ASA). It can course with psychiatric symptoms. We determined the prevalence of ASA deficiency in a group of 23 patients with presumable schizophrenia. The median serum ASA was 53.2 nmol/mL/h (range 3.3-152.5). Six patients (26%) showed low ASA activity (< 27.5 nmol/mL/h which is the lowest value observed in 29 normal controls); five of them had clinical history of delusions of grandeur, auditive hallucinations, multiple hospitalizations, low response to neuroleptics, and abnormal evoked potentials. It is probable that the schizophrenic symptoms in these patients may be due to the enzyme deficiency. We conclude that the assay is useful in clinical practice as it may help to identify cases of MLD in patients with suspected schizophrenia.
Assuntos
Cerebrosídeo Sulfatase/deficiência , Leucodistrofia Metacromática/psicologia , Esquizofrenia/enzimologia , Adulto , Idoso , Cerebrosídeo Sulfatase/sangue , Cerebrosídeo Sulfatase/genética , Criança , Diagnóstico Diferencial , Feminino , Humanos , Leucodistrofia Metacromática/diagnóstico , Leucodistrofia Metacromática/enzimologia , Leucodistrofia Metacromática/epidemiologia , Masculino , Pessoa de Meia-Idade , Prevalência , Esquizofrenia/diagnóstico , Esquizofrenia/etiologiaRESUMO
Duchenne Muscular Dystrophy (DMD) is usually diagnosed several years after the onset of symptoms. The relatives of the patients with DMD frequently consult family physicians when they notice the first symptom. The purpose of this study was to determine the cause that influence the delayed diagnosis of DMD. Twenty-two patients with confirmed diagnosis of DMD were interviewed at two Neurology Centers (Mexican Social Security Institute) in Monterrey, Nuevo León, México. Two forms of onset of DMD: Retarded development and locomotion problems were found, confirming other studies. The mean age of onset of symptoms for 22 patients was 2.4 years. The mean age for DMD diagnosis was 4.9 years. Retarded development occurred in 12 (54.4%) of all cases and the age of diagnosis was between 1 and 6 years of age. In 10 cases of the group with locomotion problems (45.4%) the diagnosis was made between 3 and 11 years of age. The serum Creatine Kinase was increased in all patients and in the early stages these levels were much higher than late stages. Family physicians have opportunities to make early diagnosis of DMD if they are aware of the two forms of onset of the disease: Retarded development and locomotion problems and of the changes in serum CK levels. The findings of this study confirm the importance of family physicians in that respect and also in making recommendations for routine determination of serum Creatine Kinase (CK) as early as possible in a child with symptoms suggestive of DMD.
Assuntos
Distrofias Musculares/diagnóstico , Tecido Adiposo/patologia , Adolescente , Fatores Etários , Biópsia , Criança , Pré-Escolar , Ensaios Enzimáticos Clínicos , Humanos , Lactente , Recém-Nascido , Masculino , Músculos/patologia , Distrofias Musculares/patologia , Fatores de TempoRESUMO
The Becker's Muscular Dystrophy (BMD) is a disease with similar aspect and distribution to the Duchenne Muscular Dystrophy (DMD), although it is usually less severe. The main purpose of this investigation was to outline the most important clinical characteristics that can help in the differential diagnosis between these two diseases. Thirty eight patients were studied; 16 with BMD and 22 with DMD. Clinically both are very similar, and the best criteria for the differentiation of this two diseases is the inability to walk. The age of symptomatology onset was 10.5 +/- 7.2 years in BMD and 2.3 +/- 13 years in DMD showing an overlapping of 18.42% of DMD and DMB at the age of 4, this overlapping difficult the precise diagnosis between both diseases. The creatine kinase (CK) study was not relevant.
Assuntos
Distrofias Musculares/diagnóstico , Adolescente , Adulto , Fatores Etários , Criança , Pré-Escolar , Ensaios Enzimáticos Clínicos , Creatina Quinase/sangue , Diagnóstico Diferencial , Humanos , Lactente , Pessoa de Meia-Idade , Distrofias Musculares/mortalidade , PrognósticoAssuntos
Humanos , Lactente , Pré-Escolar , Criança , Adolescente , Feminino , Distrofias Musculares/diagnóstico , Creatina Quinase/análiseRESUMO
36 females aged through 1 to 16 years were studied. They were sisters or close kin, on the maternal side, of patients with Duchenne's Muscular Dystrophy (DMD). 23 healthy controls were also studied so as to evaluate the usefulness of determining serum creatine phosphokinase (CPK) as means for detecting young carriers of DMD. 18 of 36 girls (50%) who were the daughters of the affected families, showed CPK seric values more than twice the standard deviation of the mean of the witness group (21 +/- 7.9 U/L). The Bayesian analysis performed on the problem group showed a good correspondence. These findings imply a high range of detection in possible carriers under 16 years of age. We believe that the absence of symptomatology in some of these girls does not eliminate the possibility of being a carrier.
Assuntos
Ensaios Enzimáticos Clínicos , Creatina Quinase/sangue , Triagem de Portadores Genéticos , Distrofias Musculares/diagnóstico , Adolescente , Criança , Pré-Escolar , Fadiga/etiologia , Feminino , Humanos , Lactente , Perna (Membro) , Distrofias Musculares/genética , Distrofias Musculares/prevenção & controle , Dor/etiologiaRESUMO
The activity of serum creatine phosphokinase (CPK) was determined in 80 female members of 23 families with affected members of Duchenne type muscular dystrophy (DMD) and compared with the values of a control group of 100 unaffected women. The control group values exhibited a normal distribution of frequency with a mean of 21 U/L and standard deviation from the mean of 7.9 U/L. Sixty nine percent (11/16) of obligatory carriers showed CPK values higher than the mean of the control group plus two standard deviations of the mean. Thirty one percent (5/16) had false negative values. These percentages are similar to those reported in other studies. Elevated CPK activity was found in 45% (18/40) of type A possible carriers (relatives of obligatory carriers) and the group of possible carriers type B (mothers and relatives of isolated cases) 42% (10/24) exhibited high CPK values. Bayesian analysis was also used in all possible-carriers (A and B). We also report an estimation of the fertility of the DMD gene carriers and of their attitude towards family planning. It is concluded that the determination of serum CPK activity, despite its shortcomings, associated with Bayesian analysis when necessary, could be the method of choice for quick and inexpensive evaluation of the carrier status, mainly in families with members affected by DMD.
Assuntos
Creatina Quinase/sangue , Triagem de Portadores Genéticos , Marcadores Genéticos , Distrofias Musculares/prevenção & controle , Reações Falso-Negativas , Feminino , Fertilidade , Ligação Genética , Humanos , México , Distrofias Musculares/genética , Cromossomo XRESUMO
We report a case of a woman of Mexican origin with oculopharyngeal muscular dystrophy (OMD). This is the first OMD reported in Mexico. She was healthy until the age of 30, when she noticed slowly progressive ptosis and dysphagia. She developed dermatitis and polyneuritis which we attribute to a deficiency of nutrients due to her dysphagia. In contrast to most previous reported cases this patient had also a distal myopathy. It is recommended in this type of patients a strict dietary control in order to avoid complications. It is also recommended to perform biopsies of several muscles to complete the diagnosis and prognosis.