PubMed Health⌕ Search

Biomedical subjects

T Sveger

Publications and source records attributed to T Sveger.

71 records · Page 4Linked to original sources
PubMed1981

Prenatal diagnosis of alpha 1-antitrypsin deficiency by analysis of fetal blood obtained at fetoscopy.

Two women had each borne a child who had alpha 1-antitrypsin (alpha 1AT) deficiency Pi ZZ and who developed liver cirrhosis. In subsequent pregnancies, the women requested prenatal diagnosis. Samples of blood from the two fetuses were obtained at fetoscopy. In a control group of five Pi MM fetuses aborted by hysterotomy, the mean alpha 1AT level was 0.73 g/liter. Of the two fetuses at risk, one had an alpha 1AT concentration calculated as 0.60 g/liter, i.e., within the Pi MZ range. The electrofocusing pattern indicated a heterozygous Pi MZ phenotype which was confirmed at birth. The other fetus at risk had a markedly decreased concentration of alpha 1AT, 0.06 g/liter. Electrofocusing showed a homozygous Pi ZZ phenotype. Analysis of blood from the abortus confirmed these findings and thus the diagnosis of alpha 1AT deficiency. Speculation Most of the alpha 1-antitrypsin in amniotic fluid is derived from the mother. It therefore appears that the only possible way of making a prenatal diagnosis of alpha 1-antitrypsin deficiency is by examination of blood from the fetus. One fetus examined in the present study had an abnormal Z-pattern. This abnormality may indicate a disturbance of fetal liver function already in utero.

Female↗
PubMed1980

The cerebrospinal fluid and plasma concentrations of gamma-trace and beta2-microglobulin at various ages and in neurological disorders.

The concentrations of gamma-trace and beta2-microglobulin in cerebrospinal fluid (CSF) and plasma were determined in 64 individuals of various ages without signs of organic disorder in the central nervous system (CNS). A strong connection was found between the CSF level of gamma-trace and the age of the individual, with the CSF level of newborns being 3--4 times that of adults. A similar, but less marked, connection was found for the CSF level of beta2-microglobulin and the age of the individual. The plasma levels of the two proteins also varied with the age of the individual, but the variations were not as great as those of the CSF levels. The results strongly emphasize the necessity of using age-matched reference values when CSF and plasma levels of the proteins are to be evaluated in different groups of patients. Thirteen children and 98 adults with various neurological disorders were also examined. Significantly increased CSF levels of gamma-trace and beta2-microglobulin as well as increased plasma concentration of gamma-trace and CSF/plasma gradient of beta2-microglobulin were found in infectious disorders. Increased gamma-trace concentration in plasma and beta2-microglobulin concentration in CSF were seen in cerebrovascular disorders. The mechanisms which regulate the turnover of proteins in CSF are discussed.

Adolescent↗
PubMed1979

Alpha 1-antitrypsin screening of 18-year-old men.

In 11 128 apparently healthy 18-year-old men screened for alpha 1-antitrypsin deficiency (AATD) 44 had an alpha 1-antitrypsin (AAT) level of 50% or less of the transferrin reference. In 42 of the 44 the Pi types were: five Pi Z, 10 Pi SZ, three Pi MZ, one presumptive Pi M-, one Pi FM, and 22 Pi M. Probably all Pi Z and most of the Pi SZ subjects were identified. The transferrin reference, however, is probably less reliable for the study of this age group, and alpha 1-antichymotrypsin may provide a more valid reference for the AAT screening procedure. In the clinical investigation the additive risk factor of smoking was discovered in eight of 15 individuals with AATD Pi Z or Pi SZ. We believe screening for Pi Z and probably also Pi SZ AATD should be done before young people start smoking or train for jobs in polluted environments.

Adolescent↗
PubMed1978

Does overnutrition or obesity during the first year affect weight at age four?

226 of 243 infants who took part in a prospective study of nutrition and weight during the first year of life were reviewed at age 4 years. 23 of 243 infants (9%) were obese on one or more controls the first year, and 4 of 226 (2%) at age 4 years. Only 3 of 23 infants remained obese. The weight and length of the children obese at 0-1 year of age were significantly increased at age 4 years. Overnutrition occurred during the first year in 26 infants and the number of obese infants in this group was significantly increased at age 7-12 months and of overweight children during the first two years of life. At age 4, however, none of them were either obese or overweight.

Body Height↗
PubMed1978

alpha 1-antitrypsin deficiency in early childhood.

Among 200,000 infants screened for alpha 1-antitrypsin (alpha 1-AT) deficiency, 125 Pi Z, 48 Pi Z, 1Pi S-, and 2 Pi Z- children were followed up prospectively. Eleven percent of the Pi Z infants had neonatal cholestasis, and at 2 years of age three of them had cirrhosis. About 50% of the asymptomatic Pi Z and Pi Z- subjects occasionally had serum alanine aminotransferase (ALAT) levels above normal, and in 15% of them the levels were probably permanently increased during the first two years of life. Two previously healthy Pi Z children had transient symptoms of liver disease at age 2 years in connection with severe infections. The Pi SZ children had no significant clinical liver disease and only two had abnormal serum ALAT levels. Among Pi Z children up to 2 years of age the following diseases were also encountered: eight had recurrent bronchitis with wheezing, two had persistant cough (both had cirrhosis), one had severe pneumonia, one was mentally retarded, three had urinary tract infections, six had pronounced eczema, one had allergic shock, and three had congenital malformations. Among the Pi SZ children one had recurrent bronchitis, one had eczema, and one had juvenile rheumatoid arthritis. Three children, two Pi Z and one Pi SZ, have died. The Pi Z- and Pi S- subjects were healthy. In conclusion a variety of significant symptoms were observed in about 30% of the Pi Z children compared with 6% of the Pi SZ children during the first two years of life.

Alanine Transaminase↗
PubMed1976

Liver disease in alpha1-antitrypsin deficiency detected by screening of 200,000 infants.

We prosepctively studied 200,000 newborns to determine the frequency and clinical characteristics of alpha1-antitrypsin deficiency. One hundred and twenty Pi Z, 48 Pi SZ, two PI Z-and one Pi S-infants were identified and followed to the age of six months. Fourteen of 120 Pi Z infants had prolonged obstructive jaundice, nine with severe clinical and laboratory evidence of liver disease. Five had only laboratory evidence of liver disease. Eight other Pi Z infants had minimal abnormalities in serum bilirubin and hepatic enzyme activity and variable hepatosplenomegaly. All 22 Pi Z infants with hepatic abnormalities, two thirds of whom were made, appeared healthy at six months of age. Ninety-eight Pi Z infants did not have clinical liver disease, but liver-function tests gave abnormal results in 44 of 84 at three months, and in 36 of 60 at six months of age. The number of small-for-gestational-age infants was greater (P less than 0.001) among those with clinical liver disease. None of the 48 Pi SZ infants had clinical liver disease, but 10 of 42 at three months and one of 22 at six months of age had abnormal liver function. The Pi Z and Pi SZ phenotypes are associated with covert or readily apparent hepatic dysfunction in the first three months of life.

Alleles↗
PubMed1976

Isolated temporary pharyngeal paralysis in childhood.

Three children developed dysphagia and rhinolalia indicating isolated paralysis of the ninth and tenth cranial nerves. They recovered completely after three to four weeks. The clinical features suggested an infectious aetiology.

Brain Injuries↗
PubMed1975

Nutrition, overnutrition, and obesity in the first year of line in Malmö, Sweden.

The feeding pattern, calorie intake, weight and height were studied at various ages during the first 12 months in 243 infants born in Sweden. The feeding pattern and calorie intake was close to that recommended. 0-6% in each age group were found to be obese (20-40% above the standard weight) and 15-23% overweight (10-20% above the standard weight). The mean calorie intake during the months before and when obesity and overweight were diagnosed exceeded the normal by 10% or less. When re-examined at age 2 plus or minus 1/2 years, 50% of those children obese up to 1 year remained so, and only 2 earlier overweight had become obese. 25% of the obese children had one obese parent, compared with 10% of the normal children and overweight ones. The low incidence of overnutrition and the low freqency of obese and overweight infants in this study compared with previous studies support the idea that high calorie intake is of importance in the development of obesity during infancy. Accordingly, overnutrition seems to be one factor, in the multifactorial aetiology of obesity, and reduction of overnutrition can reduce, but not abolish, infantile obesity. Whether the reduction of this will subsequently prevent adult obesity remains to be proved.

Body Height↗
PubMed1975

Variations of protease inhibitors in foetuses, newborn infants and in some neonatal disorders.

Low levels of protease inhibitors have been found on the 1st day of life in IRDS infants. 19 IRDS infants were studied together with foetuses and control term and preterm infants. Alpha1-antitrypsin, antichymotrypsin and alpha2-macroglobulin were measured with the electroimmuno assay. IRDS infants had significantly reduced concentration of alpha-antitrypsin and antichymotrypsin on the 1st day, the level increasing to normal on the 2nd day. In foetuses alpha1-antitrypsin was normal, antichymotrypsin 2% and alpha2-macroglobulin 1/3 of the normal adult level. The protease inhibitors are increased in infants born after premature rupture of foetal membranes. The part, if any, played by protease inhibitors is not entirely understood. The inhibitors may, theoretically, be of some importance in the dissolution of the hyaline membranes, protect against pulmonary vasoconstriction, protect pulmonary tissue against leucocyte and macrophage proteolytic enzymes and inhibit the release of or counteract vasoactive substances that might take part in the development of shock in IRDS babies.

Age Factors↗
PubMed1975

Mass screening of newborn Swedish infants for alpha antitrypsin deficiency.

During the first year of mass screening for alpha1 antitrypsin deficiency, 108,000 newborn Swedish infants were examined. The screening method and criteria used for selecting infants with alpha1 antitrypsin deficiency were reliable. The Pi Z phenotype occurred at a rate of one per 1,433 infants, and the PiZ allele frequency was .026. The Pi- allele was found in one Pi Z and one Pi S infant. The Pi- allele frequency probably was below .001.

Alleles↗
PubMedDate not supplied

Maternal distress and congenital malformations: do mothers of malformed fetuses have more problems?

As compared with 580 randomly chosen pregnant women without malformed offspring. 161 women with malformed offspring at the index pregnancy had a more frequent history of previous multiple offspring deaths and somewhat increased maternal age but were not different on social class, marital or cohabitation status or parity. As compared with demographically similar reproducing women (n = 54) interviewed, malformation cases (n = 98) reported having had significantly more strong stress before identification of the malformation, as well as a clear tendency toward less appropriate timing of the pregnancy. Women with malformed offspring represent a psychosocially vulnerable group and should receive special clinical and personal support.

Adult↗