摘要:

AbstractAcid α‐glucosidase was studied in mixed leukocytes, lymphocytes, fibroblasts and livers from patients with glycogenosis II. This enzyme was deficient in all specimens from an infantile type patient, whereas there was a higher residual activity of this enzyme in a late onset patient, when 4‐methylumbelliferyl‐α‐glucopyranoside and maltose were used as substrates. The hydrolytic activity toward glycogen in the liver of the late onset patient was as low as in the early onset patient. Km and thermostability were identical for the latter patient and the controls. The neutral enzyme was normal in both patients. Complementation of the enzyme activity was not demonstrated in the fused cells of these two patients, suggesting the allelic gene mutation on the same locus. There was no difference in the ultrastructure of fibroblasts from both

ISSN:1328-8067    

DOI:10.1111/j.1442-200X.1984.tb00592.x

出版商:Blackwell Publishing Ltd    

年代:1984

数据来源: WILEY

摘要:

AbstractTwo siblings with McArdle disease were studied biochemically and histochemically. Case 1 was a 9‐year‐old girl and case 2 was a 14‐year‐old boy. No elevation of serum lactate after exercise was noticed in both cases. PAS staining in case 1 was markedly increased, whereas in case 2 it was moderately increased. Muscle glycogen content in case 1 was 51 mg/gr muscle and in case 2 it was 38.7 mg/gr (control: 11.2 ± 1.28 mg/gr). Muscle phosphorylase activity was completely absent in case 1 and was about 50% of normal value in case 2, by both determinations of histochemical and direct biochemical methods. SDS‐polyacrylamide gel electrophoresis revealed a little amount of muscle phosphorylase protein in both cases and also no abnormal migration of residual activity of muscle phosphorylase was found on polyacrylamide electrophoresis. These data indicate that occurrence of familial variety of muscle phosphorylase in two siblings was due to difference of muscle phosphorylase activity and also different onset of disease and clinical severity among two cases are depending on the degree of residual amount of

ISSN:1328-8067    

DOI:10.1111/j.1442-200X.1984.tb00593.x

出版商:Blackwell Publishing Ltd    

年代:1984

数据来源: WILEY

摘要:

AbstractA female infant, who showed hyperammonemia in the neonatal period, died on 43rd postnatal day. Her female sibling also died on 42nd day after birth with an identical clinical picture and hyperammonemia. Urinary organic acids were negative in both cases. Their blood amino acids showed no specific pattern, and urinary orotic acid excretion was normal. The first two urea cycle enzymes and N‐acetyl L‐glutamate synthetase of the liver tissues of these two infants obtained at autopsy were assayed. They revealed a selective deficiency of carbamyl phosphate synthetas

ISSN:1328-8067    

DOI:10.1111/j.1442-200X.1984.tb00594.x

出版商:Blackwell Publishing Ltd    

年代:1984

数据来源: WILEY

摘要:

AbstractIn human pregnancy, maternal and umbilical blood of the 22nd and 40th weeks of pregnancy and at parturition were submitted to the analysis of total free amino acids (FAA) by the amino acids analyzer. The neonatal blood was also submitted until the 9th day after birth. The content of FAA in the serum from the umbilical vein was higher than that from the maternal blood, and it decreased at the parturition term.However, the content of taurine kept a much higher level than the other amino acids until term, and then it decreased to the normal level on the 9th day after birth. In pregnant rats on the 17th, 18th and 19th days of gestation, the content of FAA in the serum from the umbilical vein and fetal artery was twice as high as that of the maternal serum. In amniotic fluid, FAA content was increased on the 20th day. On the contrary, the content of taurine in fetal blood was at the highest level on the 18th day, after which it decreased until the 20th day. The level of taurine in the carotid artery decreased on the 20th day. In the amniotic fluid, it was almost constant. When the pregnant rat was starved, the level of FAA was increased in both umbilical and fetal blood, but it was almost constant in the amniotic fluid. Taurine content was increased in maternal and fetal blood by starvation, and increased also by irradiation. When the degree of starvation proceeded, taurine content increased correspondingly in the fetal blood.

ISSN:1328-8067    

DOI:10.1111/j.1442-200X.1984.tb00595.x

出版商:Blackwell Publishing Ltd    

年代:1984

数据来源: WILEY

摘要:

Abstract1) Our investigation was made on the distribution of the free amino acids in the five parts of brain. The anomalies of these distributions under the influence of premature birth have recovered with growth, but the anomalies have been found to be detectable in the diencephalon and the midbrain even at the third week of life.2) By using the ratio' of (Glu+GABA+Asp)/(Tau+PE) as the maturity index, it is found that the premature rat is retarded in development in all parts of brain except the cerebrum and is remarkably retarded in the diencephalon.3) The metabolism of sulfur‐containing amino acid in the brain of premature rats was found to be more active than that in control rats at the time of birth. The metabolism of the premature rat had caught up with that of the control rat at the age of thre

ISSN:1328-8067    

DOI:10.1111/j.1442-200X.1984.tb00596.x

出版商:Blackwell Publishing Ltd    

年代:1984

数据来源: WILEY

摘要:

AbstractThis paper describes a therapeutical trial by oral administration of secretory IgA to an agammaglobulinemic patient with chronic polivirus infection.The patient developed paralytic polimoyelitis 18 months after the second poliovaccination, and continued to shed non‐vaccine‐like type 2 poliovirus for almost 2 yars after the onset of illness, although his clinical illness was not progressive. The patient lacked coproantibody response against poliviruses type 1, 2 and 3. From the standpoint of public health, the purified S‐IgA prepared from human colostrum which contained neutralizing antibody against type 2 poliovirs was given orally to the patient by the daily does of 150 mg for 7 days. The amount of fecal virus was reduced after the treatment and the fecal shedding of the virus ceased 2 months later, namely, almost 2 years after the onset of paralysis and 3 years and 5 months after the second vaccination.This case suggests that the oral administration of secretory IgA might be effective and advisable as a part of replacement therapy in various types of immune defficiencies associated with reduced secretion of IgA, especially for the management of persistent infection of enterovi

ISSN:1328-8067    

DOI:10.1111/j.1442-200X.1984.tb00597.x

出版商:Blackwell Publishing Ltd    

年代:1984

数据来源: WILEY

摘要:

AbstractAtaxia telangiectasia is agenetically determined immunodeficiency with predisposition to malignancy. Herein we report a case of ataxia telangiectasis in a child who had showed high antibody titers to viral capsid antigen (VCA), presence of antibodies to Epstein‐Barr virus (EBV) induced early antigen (EA), low titers of antibodies to EBV associated nuclear antigen (EBNA), and a high incidence of EBNA‐positive cells in the peripheral blood without symptoms of infectious mononucleosis before succumbing to malignant lymphoma five years later. We hypothesize the association betwen some cytogenetic defects and persistent EBV infection on the development of the malignant lymphoma in this pati

ISSN:1328-8067    

DOI:10.1111/j.1442-200X.1984.tb00598.x

出版商:Blackwell Publishing Ltd    

年代:1984

数据来源: WILEY

摘要:

AbstractA simple and sensitive ELISA of mumps IgM and IgG antibodies was described. This assay served as a useful means of rapid diagnosis of mumps virus infection. Coolection of parired serum specimens before day 2 and during the second week of the disease was recommended. A great increase in mumps ELISA IgG in combination with the presence of significant elevation of mumps ELISA IgM level was one of the best proffs of quite recent mumps virus infection. Infulences of false negative reaations and false positive reactions on mumps ELISA IgM were not great. We concluded that the measurement of ELISA IgM antibody along with that of IgG antibody was useful for rapid serological diagnosis of recent mumps infection.

ISSN:1328-8067    

DOI:10.1111/j.1442-200X.1984.tb00599.x

出版商:Blackwell Publishing Ltd    

年代:1984

数据来源: WILEY

摘要:

AbstractThe pharyngeal flora was evaluated semiquantitatively by differentiating the grown colonies on blood agar plates, in 7 patients undergoing intravenous ampicillin treatment.Intravenous ampicillin in larger daily doses of 200 to 300 mg/kg caused marked changes that eradicated α‐streptococci in most cases, and gram‐negative bacilli appeared in 13 out of 14 cultures with high prevalences. Changes observed by smaller daily doses were less extensive, which indicated a does reponse reltionship.Staphylococcus aureuswas isolated with high prevalences in 3 of the total of 12 cultures in the course of ampicillin.Since these changes denote suppression of the normal flora and overgrowth af ampicillin‐resistant organisms in the respiratiory tract, which potentiate the development of supernifection, expected advantages must be weighed against these undesired effects, particularly when ampicillin is prescribed for long periods and larger doses. Culture of the pharyngeal swab would be a useful guide for the check of the bacterial over

ISSN:1328-8067    

DOI:10.1111/j.1442-200X.1984.tb00600.x

出版商:Blackwell Publishing Ltd    

年代:1984

数据来源: WILEY

摘要:

AbstractCardiovascular malformations were produced in 46.7% of Wistar rats by injecting a sub‐ teratogenic dose of rabbit anti‐rat‐kidney serum and 0.90ml per 100g of rabbit anti‐rat‐heart serum. Ventricular septal defects and aortic arch anomalies were the most common cardiovascular malformations observed. Antikidney serum was found to be very teratogenic, but the 0.10ml per 100g dosage was considered to be sub‐teratogenic. The results suggest that antiheart serum alone is not teratogenic, but when combined with a sub‐teratogenic dose of antikidney serum the combination proved to be teratogenic and resulted in an increase in cardiovascular malformations when compared to the effect of antikidne

ISSN:1328-8067    

DOI:10.1111/j.1442-200X.1984.tb00601.x

出版商:Blackwell Publishing Ltd    

年代:1984

数据来源: WILEY