A5046246477- Sulfur Compounds in Biology
- Metabolism and Genetic Disorders
- Thyroid Disorders and Treatments
- Folate and B Vitamins Research
- Glutathione Transferases and Polymorphisms
- Amino Acid Enzymes and Metabolism
- Neonatal Health and Biochemistry
- Redox biology and oxidative stress
- Neonatal Respiratory Health Research
- Sexual Differentiation and Disorders
- Biochemical and Molecular Research
- Enzyme Structure and Function
- Mitochondrial Function and Pathology
- Hemoglobin structure and function
- Child and Adolescent Psychosocial and Emotional Development
- Diet and metabolism studies
- Metal-Catalyzed Oxygenation Mechanisms
- Blood groups and transfusion
- Growth Hormone and Insulin-like Growth Factors
- Biochemical effects in animals
- Child Abuse and Trauma
- Substance Abuse Treatment and Outcomes
- Birth, Development, and Health
- Neuroscience of respiration and sleep
- Hyperglycemia and glycemic control in critically ill and hospitalized patients
Karolinska Institutet
2003-2015
Karolinska University Hospital
1984-2011
Uppsala University
1963-2009
Saint Göran Hospital
1976-2007
University Hospital Heidelberg
1994-2001
Heidelberg University
1994-2001
Uppsala University Hospital
1986-1999
Pediatrics and Genetics
1998
Queen Mary Hospital
1997
University of Hong Kong
1997
Previous studies have shown that girls with congenital adrenal hyperplasia (CAH), a syndrome resulting in overproduction of androgens from early fetal life, are behaviorally masculinized. We studied play toys structured situation and correlated the results disease severity, assessed by CYP21 genotyping, age at diagnosis. Girls CAH played more masculine than controls when playing alone. In addition, we could demonstrate dose-response relationship between severity (i.e. degree androgen...
Enzyme studies on placenta, cultured skin fibroblasts, and erythrocytes from two sisters with the inborn error 5-oxoprolinuria (pyroglutamic aciduria) indicate that metabolic lesion in this disease is at glutathione synthetase (EC 6.3.2.3) step of gamma-glutamyl cycle. Excessive urinary excretion 5-oxoproline by these patients appears to be associated increased synthesis gamma-glutamyl-cysteine formation dipeptide. Thus, produced amounts exceed normal capacity 5-oxoprolinase convert it...
The ribonucleoside diphosphate reductase system from Escherichia coli B, which catalyzes the reductive formation of deoxycytidine and deoxyuridine CDP UDP, also catalyzed corresponding reductions adenosine guanosine diphosphate. Evidence was obtained that identical highly purified proteins (Enzymes B1 B2, thioredoxin reductase) participated in all four reactions. Under optimal conditions maximal velocity with each substrate about same magnitude. specificity enzyme strongly influenced by...
Abstract In Escherichia coli B the enzymatic reductions of cytidine diphosphate and uridine require four different protein fractions (thioredoxin, thioredoxin reductase, Enzyme B1, B2), reduced triphosphopyridine nucleotide, magnesium ions. Both reactions are stimulated by nucleoside triphosphates, in particular adenosine triphosphate deoxythymidine triphosphate. dTTP (apparent Km value CDP reduction, 1.5 x 10-6 m) is effective at much lower concentrations than ATP 0.7 10-4 m), but same...
Objectives. The aim of this study was to evaluate the benefits neonatal screening for congenital adrenal hyperplasia (CAH). Methods. All children with CAH born in Sweden from January 1989 December 1994 were subjected a systematic follow-up. Clinical symptoms recorded and laboratory data collected. clinical diagnosis versus by investigated. results compared those retrospective all patients diagnosed during 1969–1986 (before introduction screening). Results. prevalence 1:9800 screening....
Filter paper blood samples taken routinely from 100 239 newborn infants were radioimmunoassayed five years later for plasma thyrotrophin concentrations. In 32 cases (0.03%) these found to be raised. Thirty one of children traced and subjected follow up examination by a paediatrician psychologist. Of the 31 children, 15 have been receiving treatment congenital hypothyroidism since median 5 months age (diagnosed group). 16 others, seven raised serum concentrations classified as hypothyroid...
Abstract The reduced form of thioredoxin, a low molecular weight hydrogen transport protein, was isolated from calf liver. purification involved heat treatment and chromatography on DEAE-cellulose, Sephadex G-50, CM-cellulose, it resulted in an apparently pure protein after 4,000-fold with final yield 30%. thioredoxin preparation obtained homogeneous as judged by polyacrylamide gel electrophoresis the presence valine only NH2-terminal amino acid. Chromatography indicated approximately 12,000...
Ribonucleotide reductase was purified 150‐fold from crude extracts of 48 hour regnerating rat liver using centrifugation at 100 000 × g , pH 5 precipitation, ammonium sulfate fractionation, and C γ ‐alumina adsorption. The enzyme activity assayed by the conversion [ 3 H]cytidine nucleotides to deoxycytidine nucleotides. For optimal required addition ATP, Mg ions, Fe a dithiol reducing agent. could be demonstrated in regenerating livers but not normal or sham operated rats. After...
Gender-typed behaviors and interests were investigated in 26 girls, aged 2-10 years, affected with congenital adrenal hyperplasia (CAH) unaffected girls matched for age. Girls CAH more interested masculine toys less feminine likely to report having male playmates wish careers. Parents of rated their daughters' as boylike than did parents girls. A relation was found between disease severity behavior indicating that severely No parental influence could be demonstrated on play behavior, nor the...
To evaluate genotyping as a diagnostic complement to neonatal screening for congenital adrenal hyperplasia, 91 children who had been diagnosed with this condition between 1986 and 1997 were analyzed mutations in the steroid 21-hydroxylase gene. Screening levels of 17-hydroxyprogesterone compared patients representing different genotypes. Genotyping was performed using allele-specific PCR, divided into four groups according severity their mutations, results these well 141 values false...
The potential psychological risks of falsely positive test results in neonatal screenings have not been studied previously. 20000 newborns were screened for congenital hypothyroidism. Of the 144 tests, 137 false. families 102 babies with false positives explored reference to their (1) initial parental psychic reactions (emotional and abilities coping) (2) residual 6 12 months later. 78 initially exhibited strong emotional reactions. Providing information about a screening is therefore an...
A total number of 112 children with congenital hypothyroidism were diagnosed in all Children's Hospitals and Pediatric Wards Sweden during the 7-year period 1969-1975. Since it may be assumed that cases hypothyroidism, which seen one these hospitals, incidence can calculated to 1:6900 live births. In spite an efficient National Health Care Program for infants diagnosis was delayed until after age three months 52% cases. This fact supports view mass screening newborns has introduced Sweden....
SummaryUsing the unwinding technique in weak alkali, induction and repair of DNA single-strand breaks was determined after aerobic anaerobic X-irradiation human fibroblasts, obtained from a patient suffering 5-oxoprolinuria, clinically healthy control. The metabolic disorder associated with 5-oxoprolinuria is deficiency glutathione synthetase activity resulting greatly reduced content cells. A small dose-modifying effect oxygen (o.e.r = 1·1) found for these cells comparison to an o.e.r. 2·5...
Neonatal screening for congenital adrenal hyperplasia (CAH) among preterm infants is complicated by the fact that healthy have higher levels of 17-hydroxyprogesterone (17-OHP) than term infants, resulting in a false-positive rate. Even when gestational age-related cutoff after ether extraction were used, cases primarily comprised infants. The aim study was to optimize procedure neonatal CAH infants.The 17-OHP 6200 correlated age. We also calculated number recalls different putative direct...
SummaryThe frequency of X-ray-induced DNA breaks was determined in human cell lines which are deficient glutathione synthetase and have a greatly reduced content. Hydroxyapatite chromatography used for the estimation cultures, were derived either from lymphoblasts transformed by infection with EB virus or fibroblasts. The dose-effect relationship induction when radiation exposure made argon, similar to that found air. In control cultures normal content, enhanced irradiation under aerobic,...
A number of different biophysical and biochemical markers have been proposed as predictors preeclampsia. Factors involved in the angiogenic balance are suggested candidate markers. The purpose this prospective, longitudinal cohort study was to determine whether a ratio between Angiopoietin-1 (Ang-1) Angiopoietin-2 (Ang-2) can be used predict preeclampsia low-risk population.A healthy pregnant women (n = 469) were enrolled at gestational weeks 8-12. Plasma samples collected 10, 25, 28, 33,...
Summary A one‐year‐old girl with chronic metabolic acidosis was found to have normal renal acidi‐fication. In the urine, however, she excreted a daily amount of 50 mmoles L‐pyroglutamate (5‐oxo‐˜‐proline). This excretion did not increase increasing protein intake. Studies turnover under steady state conditions revealed that 75% pyroglutamate synthesized metabolized by patient. The level degrading enzyme (5‐0times0‐prolinase) in patient's leucocytes decreased, and appeared affinity for its...
A pyrimidine auxotroph of Escherichia coli , possessing decreased deaminase activities for cytidine and deoxycytidine, was grown with uniformly 14 C‐labeled or uridine as sole source. The incorporation radioactivity into the individual mononucleotides DNA RNA determined. nucleotides were degraded, distribution isotope between their pentose base moieties analyzed. [ C]‐Cytidine incorporated without loss its content. Furthermore, CMP deoxyCMP had identical specific pentose: ratios. Therefore...