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Biomedical subjects

G Annerén

Publications and source records attributed to G Annerén.

At least 91 records · Page 5Linked to original sources
PubMed1988

S-100 protein and neuron-specific enolase in amniotic fluid as markers of abdominal wall and neural tube defects in the fetus.

The aim of this study was to determine whether there is increased leakage of neuron-specific enolase (NSE) and S-100 protein into amniotic fluid in pregnancies with neural tube defects, since both these proteins are produced by neural tissue, and to compare the value of these substances for detecting such defects with that of the more conventional techniques of alpha-fetoprotein (AFP) and acetylcholinesterase (AChE) gel electrophoresis. Amniotic samples from 25 mid-pregnancies (15-17 weeks' gestation) with neural tube defects (14 with open spina bifida and 11 with anencephaly) and from seven mid-pregnancies with abdominal wall defects were compared with a control material consisting of 80 amniotic fluid samples from 80 consecutive mid-pregnancy amniocenteses, with normal karyotypes and AFP concentrations. All of the above cases of abnormalities were primarily detected through increased AFP levels in the amniotic fluid. Amniotic fluid samples from 13 pregnancies with fetuses with autosomal chromosomal abnormalities and seven amniotic fluid samples contaminated with blood were also included in the investigation. It is concluded from the results that the conventional AFP assay combined with AChE gel electrophoresis is the best method for screening amniotic fluid for neural tube defects and defects of the abdominal wall. Neither NSE nor S-100 assay alone proved to be superior for the detection of these cases in mid-trimester amniotic fluid. The S-100 assay, however, could give additional information in cases where AChE gel electrophoresis is not decisive; for example, in samples contaminated with blood.

Abdominal Muscles↗
PubMed1988

Phosphofructokinase activity in normal diploid mice during development and in trisomy 16 fetal mice.

Although several of the genes mapped to human chromosome 21 have been assigned to mouse chromosome 16, it has not yet been possible to do this for the gene for the phosphofructokinase liver type subunit (PFKL). The goal of this study was to determine if there is a 1.5-fold increase of the PFK activity in fetal trisomy 16 mice, which, if present, would be indicative of a gene dosage effect. However, rather than an increase, an almost 100% decrease of the mean PFK activity was observed in fetal trisomy 16 liver at both 14 and 17 days of gestation when compared to littermate controls. This is the first biochemical abnormality detected in trisomy 16 fetal liver. In contrast, no significant differences in the mean PFK activity in homogenized whole fetus or brain trisomy 16 and diploid controls were observed. A developmental maturational effect of the PFK activity was observed in fetal liver from normal diploid mice, with a 3-fold increase of the activity from day 14 to day 18 of gestation and a further 2-fold increase to adulthood. The decreased PFK activity in fetal trisomy 16 liver may therefore be the result of delayed maturation of the liver in trisomic fetuses.

Animals↗
PubMed1987

Gamma-glutamyl transferase activity in the amniotic fluid of fetuses with chromosomal aberrations and inborn errors of metabolism.

The activity of gamma-glutamyl transferase (GGT) was measured in amniotic fluid collected between the 16th and 30th weeks of gestation from 81 pregnancies with fetuses affected by chromosomal aberrations, nine with different types of inborn errors of metabolism, two with hemophilia A and one with fragile X syndrome. The GGT activity was compared with that from 1000 normal pregnancies and deliveries resulting in healthy newborns. Contamination of amniotic fluid by blood did not affect the GGT activity. Pathologically decreased activity was found in 25 of 56 amniotic samples from pregnancies with fetal autosomal chromosomal aberrations (44.6%). It was decreased in 15 of 35 pregnancies with fetal trisomy 21 (43%), in 11 of 19 pregnancies with fetal trisomy 18 (58%), in one of three pregnancies with fetal trisomy 13 and in two pregnancies with fetal trisomy 8 and triploidy, respectively. In only three of 16 pregnancies with fetal sex chromosomal aberrations was the GGT activity low. Increased GGT activity was found in three of six pregnancies with unbalanced structurally rearranged karyotypes of the fetuses. Normal GGT activity was observed in all nine amniotic fluid samples from pregnancies with fetuses affected with different forms of inborn errors of metabolism diseases, in the two pregnancies with hemophilia A and in the pregnancy with a male fetus with fragile X syndrome. These and earlier findings indicate that the GGT activity in amniotic fluid is mostly decreased in pregnancies with severe fetal developmental abnormalities, such as autosomal chromosomal aberrations, which could possibly be secondary to an alteration of the microvillar transport system of GGT to the amniotic fluid.(ABSTRACT TRUNCATED AT 250 WORDS)

Amniotic Fluid↗
PubMed1987

Trace elements and transport proteins in serum of children with Down syndrome and of healthy siblings living in the same environment.

Twenty-two children with Down syndrome (DS), 8 boys and 14 girls, in the age range 5 to 15 years were investigated and compared with a control group of 22 healthy children, 9 boys and 13 girls of the same age group, 9 of them being siblings of patients with DS. Concentrations of iron, copper and zinc in serum were determined by atomic absorption spectrophotometry and serum proteins were quantitated by the radial immunodiffusion technique. The subjects with DS had significantly lower mean serum iron (P less than 0.01) and zinc (P less than 0.001) than the healthy controls. Four DS children had serum iron values that fell below the normal range. In more than 60 per cent of the DS patients the zinc concentration fell below the normal range. The children with DS had significantly higher mean serum copper (P less than 0.05) but lower serum iron (P less than 0.05) and zinc (P less than 0.05) levels than their healthy siblings living in the same family at the time of examination. The DS patients as a group had higher levels of caeruloplasmin (P less than 0.01), haptoglobin (P less than 0.001), orosomucoid (P less than 0.001) and alpha 2-macroglobulin (P less than 0.001) than the healthy controls and compared with their siblings. Except for prealbumin and retinol-binding protein (RBP), no age-related variation in the serum concentrations of the studied proteins was found in the DS patients. Albumin, prealbumin, RBP and transferrin levels were similar in the two study groups.(ABSTRACT TRUNCATED AT 250 WORDS)

Adolescent↗
PubMed1987

An XXX male resulting from paternal X-Y interchange and maternal X-X nondisjunction.

A 2-year-old boy was found to have a 47,XXX karyotype. Restriction-fragment-length-polymorphism analysis showed that, of his three X chromosomes, one is of paternal and two are of maternal origin. The results of Y-DNA hybridization were reminiscent of those in XX males in two respects. First, hybridization to Southern transfers revealed the presence in this XXX male of sequences derived from the Y-chromosomal short arm. Second, in situ hybridization showed that this Y DNA was located on the tip of the X-chromosomal short arm. We conclude that this XXX male resulted from the coincidence of X-X nondisjunction during maternal meiosis and aberrant X-Y interchange either during or prior to paternal meiosis.

Child, Preschool↗
PubMed1987

A medical care and support program for families with multiple congenital anomalies-mental retardation syndromes (MCA/MR).

A program for treatment--of high medical, emotional and social standard--for families with children with multiple congenital anomalies-mental retardation syndromes (MCA/MR) is presented. Using limited resources, 17 physician hours per family until the child reached the age of seven years, a total of 120 MCA/MR children (52 infants with Down's syndrome) were treated between 1975 and 1984. The medical care and support program included daily sessions with both the parents during the neonatal period, according to the principles of crisis therapy. Consultations were continued with the same doctor at the children's outpatient care unit. This article describes this support program and its outcome to date.

Abnormalities, Multiple↗
PubMed1986

Mothers of children with Down syndrome have higher herpes simplex virus type 2 (HSV-2) antibody levels.

The antibody response to herpes simplex virus (HSV) was studied in 53 mothers of children with Down syndrome (Ds) and compared with that in 154 controls, using sera sampled during pregnancy or at delivery. Conventional analysis of HSV complement fixing antibodies showed the same frequency of positivity for the two groups (70%). When the levels of IgG antibodies to an HSV-1 and an HSV-2 antigen preparation were determined by an enzyme-linked immunosorbent assay (ELISA) technique, it was found that the Ds and control mothers had similar levels of IgG antibodies to HSV-1, whereas the level of IgG antibodies to HSV-2 was significantly (P less than 0.001) higher in Ds mothers. The ratio of HSV-2 to HSV-1 ELISA IgG was calculated for each mother and the distribution of these ratios also differed significantly between the control and Ds mothers. The differences found were not due to differences in age distribution in the control and Ds groups. For comparison a third procedure, measurement of thymidine kinase blocking antibody (TK ab), was used. With this procedure the mothers were divided into groups estimated to be positive for HSV-1, HSV-2, or both. Statistical analyses showed a good correlation between the type found in TK ab analyses and the ratio found in the ELISA HSV test. The results clearly demonstrated an overrepresentation of HSV-2 antibody positivity among Ds mothers, though not of sufficient magnitude to imply that HSV-2 can be the major cause of Ds. It is discussed whether HSV-2 might be related to the recently increased birthrate of children with Ds among young mothers in Sweden or to localized geographical clustering of Ds births, or whether the increased HSV-2 antibody positivity merely indicates that factors following the same epidemiological pattern are involved in the aetiology of Ds.

Adolescent↗
PubMed1986

Increased glutathione peroxidase activity in erythrocytes in patients with Alzheimer's disease/senile dementia of Alzheimer's type.

Glutathione peroxidase (GSH-Px) activity in erythrocytes was studied in 9 patients with Alzheimer's disease/senile dementia of Alzheimer's type (AD/SDAT) of ages 34-64 years and compared with that in 16 healthy controls of ages 21-66 years. The median GSH-Px activity in erythrocytes from AD/SDAT patients was 408, mu kat/1 (range 338-500 mu kat/1) and that from healthy controls 348, mu kat/1 (range 258-439 mu kat). This difference was significant (p less than 0.005) Wilcoxon rank test. Since there are great clinical and pathological similarities between AD/SDAT and the dementia of Down's syndrome (DS) patients and since both these groups of patients have increased activity of the selenium-dependent enzyme GSH-Px, it is suggested that there could be a similar metabolic background of the dementia. Many findings in the oxidative metabolism of DS suggest increased oxidative damage with an elevation of the turnover of superoxides to peroxides within cells and with a secondary biochemical modification such as increase in tissual GSH-Px activity. A similar mechanism with elevated peroxidation within cells might be responsible for the present finding of increased GSH-Px activity in erythrocytes and for the development of dementia in AD/SDAT.

Adult↗
PubMed1986

A boy with complete triploidy and unusually long survival.

A boy with complete triploidy and extensive external and internal congenital malformations who survived for almost seven months is presented. He was born after 31 weeks of gestation, was utterly small for gestational age and the delivery was induced because of intrauterine asphyxia. The infant had typical features of the complete triploidy syndrome. He did not develop mentally or motorically even to a normal neonatal level. Banding analysis of chromosomes and HLA-antigen typing of the patient and his parents suggested that the abnormal cell division had occurred during the oogenesis. The boy suffered a fatal Pneumocystis carinii infection, suggesting defective cellular immunity. In the vast majority of previously reported cases of complete triploidy the infant has died either before birth or within the first postnatal hours and except for four patients, all reported patients have died before the age of 2 months. Our patient illustrates the fact that with modern neonatal intensive care, infants with severe malformation syndromes can survive for longer periods than previously, but in the case of patients with the complete triploidy syndrome without developing mentally at all. The ethical problem of artificially prolonged survival in severely handicapped children is discussed.

Abnormalities, Multiple↗
PubMed1986

Growth and somatomedin responses to growth hormone in Down's syndrome.

Five growth retarded children with Down's syndrome, three girls and two boys aged between 3 1/2 and 6 1/2 years with trisomy 21, were treated with human growth hormone for six months. Before treatment the growth hormone response to sleep and insulin-arginine load, as well as serum concentrations of insulin, thyroid hormones, and cortisol was found to be in the normal range. During the treatment with human growth hormone the growth velocity increased in all the children with Down's syndrome from 2.3-2.8 cm to 3.3-5.8 cm per six months. The serum concentrations of immunoreactive insulin like growth factor 1 (IGF-1) were low before treatment and increased during the treatment with human growth hormone. The serum concentrations of immunoreactive insulin like growth factor 2 (IGF-2), which were within the normal range, however, increased during treatment with human growth hormone. Children with Down's syndrome respond to treatment with human growth hormone, with an increase in both growth velocity and serum somatomedin concentrations.

Child↗
PubMed1985

Trace element profiles in individual blood cells from patients with Down's syndrome.

The concentrations of trace elements in three different types of blood cells--erythrocytes, thrombocytes and neutrophils--were determined by nuclear microprobe analysis in 11 children with Down's syndrome (DS) and compared with those in 13 controls. The median concentration of copper in all three types of blood cells and that of calcium in erythrocytes were significantly higher in DS children than in controls. In contrast, the median levels of zinc in erythrocytes, of manganese and iron in erythrocytes and neutrophils, and of magnesium in erythrocytes and thrombocytes were significantly lower in DS than in control children. In 10 of the 11 DS children, detectable erythrocyte levels of titanium were found, which is remarkable, since this was not observed in any of the cells from the control children.

Adolescent↗
PubMed1985

Selenium in plasma and erythrocytes in patients with Down's syndrome and healthy controls. Variation in relation to age, sex and glutathione peroxidase activity in erythrocytes.

The mean plasma selenium concentration (P-Se) in 65 patients with Down's syndrome (DS) did not differ from that in 90 healthy controls. The concentration of selenium in the erythrocytes (E-Se) was higher in DS patients than in controls (p less than 0.001). P-Se and E-Se increased progressively with age through childhood in both DS children and controls. The former children, however, started out with higher levels of E-Se and reached adult concentrations earlier (at 7-17 years) than controls (greater than or equal to 18 years). Adult DS patients and controls did not differ in their mean P-Se or E-Se concentration. There was a significant correlation between P-Se and E-Se both in DS patients and in controls. In DS patients each of these two variables was significantly correlated to glutathione peroxidase (GSH-Px) activity in erythrocytes. A sex difference in the DS children, but not in the controls, was observed with regard to P-Se and E-Se levels, these being higher in DS girls during childhood (0-17 years). This was in accordance with an earlier finding of higher GSH-Px activity in DS girls than in DS boys.

Adolescent↗
PubMed1984

Marker chromosomes in parents to children with Down's syndrome.

The incidence of an extra marker chromosome in the normal population is low, about 0.26 per 1,000, and that of trisomy 21 is about 1.25 per 1,000. The incidence of both these chromosomal abnormalities in the same family should be very low, if this occurs by chance. Thirteen cases of Down's syndrome in 10 families in which one of the parents had an extra marker chromosome have been reported earlier. In three of these families there were two siblings with Down's syndrome. The present report describes two families in which an extra marker chromosome was found in one of the parents and in which three of the offspring had a trisomy 21 karyotype. From the findings at Q- and AgNOR banding of the chromosomes it seemed probable that in one case this extra marker chromosome was an isochromosome for the short arm of an acrocentric chromosome. It seems very likely that marker chromosomes in healthy mothers are of pathogenetic importance for non-disjunction, resulting in a trisomy 21 offspring. A finding of an extra marker chromosome in one of the parents should therefore be taken into consideration in genetic counselling.

Adult↗
PubMed1984

Oro-facio-digital syndromes I and II: radiological methods for diagnosis and the clinical variations.

In view of the different modes of inheritance and the different prognoses of the two oro-facio-digital syndromes, type 1 (OFD-I) and type 2 (OFD-II), it is important to establish a correct diagnosis in these patients. In this report two new patients with the OFD-I syndrome are presented. One of them (Case 1) had multiple congenital malformations and never made any mental contact. She died at the age of four months and autopsy of the brain revealed abnormalities typical of the syndrome, which are discussed. The other patient (Case 2) has so far had normal mental development. Although these two patients were affected to a very different degree, they both presented the clinical and radiological characteristics of the OFD-I syndrome. These two patients and previously reported cases of the OFD-I and OFD-II syndromes were compared with a patient with the OFD-II syndrome (Case 3), a patient reported earlier who is undergoing follow-up. The radiological features of the skeleton in the two syndromes are presented. The irregular mineralization of the hands and feet characteristic of OFD-I, but not of OFD-II, seems to offer a good opportunity to distinguish between these two syndromes. It is suggested that this finding is pathognomonic for the OFD-I syndrome.

Abnormalities, Multiple↗