摘要:

SummarySix cases with Aldrich syndrome are presented, one of them splenectomized at the age of 3, died at the age of 6 years of adrenal haemorrhage. Another patient died at the age of 6 years of pneumonia with empyema and meningitis. The other 4 patients (1/2–6 years) are alive in a fairly good condition. Bleeding tendency dominates the symptoms in 2 cases, in the other 2, susceptibility to infections and/or eczema are the main symptoms. The bleeding tendency does not seem to be correlated to the number of platelets.Immunological studies in 5 of the patients have revealed a normal or high content of IgG in 4 of 5 cases and an increase of IgA in all. In 3 of 4 investigated patients elevated concentrations were demonstrated of a new immunoglobulin class, IgND. The immune response is changed; antibody production by vaccinations against viral diseases was poor, tuberculin reactions after BCG vaccination were negative, the pharyngeal lymphoid tissue was absent, and in 4 of the 5 investigated cases low titers of isoagglutinins were demonstrate

ISSN:0803-5253    

DOI:10.1111/j.1651-2227.1968.tb04658.x

出版商:Blackwell Publishing Ltd    

年代:1968

数据来源: WILEY

摘要:

SummaryThe oxygen consumption of 27 normal babies was measured at an environmental temperature of about 35°C, approaching this temperature either from 30°C or 40°C. There was a decrease in oxygen consumption at an ambient temperature of 40°C compared with 35°C, provided the baby remained asleep and motionless.The oxygen consumption at an environmental temperature of 35°C when this had been reached by coming from 40°C was 15% higher than when it had been reached by warming from 30°C. This difference could not be explained by differences in skin‐air temperature gradients nor by a Q

ISSN:0803-5253    

DOI:10.1111/j.1651-2227.1968.tb04659.x

出版商:Blackwell Publishing Ltd    

年代:1968

数据来源: WILEY

摘要:

SummaryThe difficulties to obtain an exact diagnosis in cases of glycogen storage disease are mentioned. New diagnostic methods, utilizing blood cells, have not allowed settling a definite diagnosis in all cases. Analyses on liver tissue, consequently, are still needed in many cases. However, the methods up to now used for obtaining a piece of liver tissue (surgery or large‐diameter needle‐biopsy) involve dangers to the patient. Because of this, a less risky biopsy procedure, such as can be performed with a fine‐needle, was thought preferable.To be able to utilize very small amounts of liver tissue, as obtainable with a fine‐needle, for the diagnosis of glycogen storage disease, methods were worked out, allowing the analysis of glucose‐6‐phosphatase, phosphorylase, amylo‐1,6‐glucosidase, α‐glucosidase, glycogen and protein on 0.5‐2 mg fragments of liver tissue. The metnods involved incubation of very small volumes, assay of phosphorus by a newly described, highly sensitive method and of glucose by the hexokinase‐glucose‐6‐phosphate dehydrogenase method with fluorimetric measurement of the NADPH. Protein and glycogen could be assayed in a more conventional way. The stability of the enzyme activities and the precision of the methods is discussed.Results on liver biopsy specimens from seven controls and on biopsy and autopsy specimens from liver in eight cases of four different types of glycogen storage disease are given and compared to the results on these specimens with

ISSN:0803-5253    

DOI:10.1111/j.1651-2227.1968.tb04660.x

出版商:Blackwell Publishing Ltd    

年代:1968

数据来源: WILEY

摘要:

SummaryTwo brothers with Fatal granulomatous disease of childhood (FGD) are presented. Both patients exhibited pronounced food allergy. Otherwise, the course of the disease was typical of FGD. From infancy recurrent infections, notably suppurative lymphadenitis, and a fatal outcome before puberty.Microscopic examination of affected organs revealed granulomas with tuberculoid structure; the macrophages contained a characteristic yellow‐brown lipid pigment.A defective function of the neutrophil granulocytes has been demonstrated in FGD. The phagocytic capacity is intact but phagocytized bacteria are not killed since phagocytosis does not induce liberation of catabolic enzymes from the neutrophil granules. In one of our patients, defective degranulation and vacuolization of the cytoplasm of neutrophils was demonstratedin vitrofollowing phagocytosis of staphylococci. However, exposure to sodium fluoride or kleb‐siella toxin did induce degranulation and vacuolization of the defective granulocy

ISSN:0803-5253    

DOI:10.1111/j.1651-2227.1968.tb04661.x

出版商:Blackwell Publishing Ltd    

年代:1968

数据来源: WILEY

摘要:

SummaryTryptophan load tests were performed on 51 children, including 27 with epilepsy. In controls and in patients not receiving phenytoin the xanthurenic acid excretion in urine increased with age. No difference was found between the mean values for controls, non‐epileptic patients with neurological diseases and epileptic children not receiving hydantoin derivatives. In epileptic children treated with phenytoin the excretion of xanthurenic acid was higher than in the other 3 groups. The xanthurenic acid excretion increased in healthy children given phenytoin 10 mg/kg/day for at least 5 days. The mean difference between the results of the tryptophan load test before and during phenytoin administration in 8 epileptic children and 5 healthy controls was significant. In all but one of these children xanthurenic aciduria increased during administration of phenytoin. In none of the few patients who showed a clinical response on pyridoxine (100–150 mg/ day) was the tryptophan load test abnormal before treatment with pyridox

ISSN:0803-5253    

DOI:10.1111/j.1651-2227.1968.tb04662.x

出版商:Blackwell Publishing Ltd    

年代:1968

数据来源: WILEY

摘要:

SummaryLiver slices from human foetuses of a gestational age between 16 and 20 weeks produce urea when incubated with optimal amounts of substrate.The activities of the enzymes which synthesize urea (carbamyl phosphate synthetase, ornithine transcarbamylase, arginine synthetase system, argininosuccinase and arginase) have been measured in human liver during development. No rapid postparturition increase in activity was discernible in any of the enzymes studied, although in general the adult levels were somewhat higher than those found at birth. Arginine synthetase has the lowest relative activity of all the five enzymes involved in urea synthesis. The apparent Km for citrulline is similar in magnitude for both foetal and adult liver arginine synthetase.

ISSN:0803-5253    

DOI:10.1111/j.1651-2227.1968.tb04663.x

出版商:Blackwell Publishing Ltd    

年代:1968

数据来源: WILEY

摘要:

SummarySixty‐six determinations of circulating red cell volume (RCV) were performed in 24 normal fullterm and 16 normal premature infants aged 4 hours to 138 days. The correlation between venous haematocrit (vHct) and RCV/kg was analysed. Within the range of vHct studied, 23–67%, the relationship was linear according to the equation: RCV/kg= ‐12.3 + 1.02 vHct. No significant difference in slope or position of the regression lines was found between the full‐term and premature infants. A comparison with adult individuals, taken from the literature, showed an almost identical relationship. The equation is proposed as a formula for prediction of RCV in full‐term and premature infants during the first five months of life. The standard error of estimate for prediction from this formula is approxim

ISSN:0803-5253    

DOI:10.1111/j.1651-2227.1968.tb04664.x

出版商:Blackwell Publishing Ltd    

年代:1968

数据来源: WILEY

摘要:

SummaryRed cell volume measurements were performed with a51Cr‐dilution method in 27 newborn infants with a gestational age of 222–295 days. The results were in agreement with and supplemented earlier findings. A positive correlation was found between red cell volume and gestational age. After 230 days (±10 days) of intrauterine life, the red cell volume varied between 45 and 100 ml. After a gestational period of 280 days (±10 days) the red cell volume was 120–190 ml. The main source of the large variation probably arises from errors in determining the gestational age, and variations in amount of placental tran

ISSN:0803-5253    

DOI:10.1111/j.1651-2227.1968.tb04665.x

出版商:Blackwell Publishing Ltd    

年代:1968

数据来源: WILEY

摘要:

SummaryThe carboxyhaemoglobin (COHb) concentration in blood, which is assumed to reflect the degree of haemoglobin catabolism, was determined in 62 newborn infants selected because of significant jaundice associated with ABO incompatibility, and in 46 infants with ABO incompatibility, selected without regard to the degree of bilirubinaemia. Furthermore, the COHb level was determined in 46 icteric infants without haemolytic disease, and in 61 infants of ABO homospecific pregnancies, selected without regard to their bilirubin level.In infants with ABO incompatibility increased COHb concentrations were found not only in infants with unequivocal signs of haemolytic disease but also in infants with a clinical picture indistinguishable from physiological jaundice. During the first days the relation between COHb and bilirubin in infants with ABO incompatibility was the same, whether the infants were selected because of significant jaundice or irrespective of the degree of bilirubinaemia. This indicates a common pathogenesis of the bilirubinaemia in the two groups.The COHb and bilirubin levels in infants of ABO heterospecific pregnancies and in infants of ABO homospecific pregnancies, selected without regard to the degree of bilirubinaemia, were compared. It is concluded that the COHb level probably is a more sensitive indicator of haemolysis than the bilirubin concentration.Increased COHb concentrations were also found in icteric infants without blood group incompatibility, but the relation between COHb and bilirubin indicates that in ABO incompatibility increased haemolysis is of greater importance in the pathogenesis of the jaundice.

ISSN:0803-5253    

DOI:10.1111/j.1651-2227.1968.tb04666.x

出版商:Blackwell Publishing Ltd    

年代:1968

数据来源: WILEY

摘要:

SummaryA mild form of congenital fibrinogen deficiency is reported in a 9‐year‐old girl under our observation from birth. She had from early life a history of hemorrhagic syndrome with the principal features of congenital fibrinogen deficiency, but with normal clotting time and partial fibrinogen deficiency. The patient's parents, related by blood, both of Greek origin, are also affected by the same disorder in a latent form.The mildness of the hemorrhagic diathesis, especially after infancy and the better prognosis as compared to the classical afibrinogenemia is emphasized.The genetic problems of these familial cases of fibrinogen deficiency and their relation by genetic point of view with the cases of classical afibrinogenemia are discus

ISSN:0803-5253    

DOI:10.1111/j.1651-2227.1968.tb04667.x

出版商:Blackwell Publishing Ltd    

年代:1968

数据来源: WILEY