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Biomedical subjects

G Holmgren

Publications and source records attributed to G Holmgren.

At least 163 records · Page 9Linked to original sources
PubMed1982

Suspected faulty essential fatty acid metabolism in Sjögren-Larsson syndrome.

The aim of the present study was to examine the fatty acid patterns of plasma phospholipids, cholesteryl esters, triglycerides and free fatty acids in patients with Sjögren-Larsson syndrome in order to detect whether absorption or metabolism is essential fatty acids may be abnormal. The fatty acid patterns were analyzed by gas liquid chromatography. The proportions of 23 fatty acids were calculated. The parameters used for assessment of the essential fatty acid metabolic status were calculated and compared with those from a group of institutionalized mentally retarded patients and from a group of healthy controls. There was no significant difference in either the fatty acid components or parameters used to evaluate the essential fatty acid metabolic study when the mentally retarded and control groups were compared. The relative concentration of linoleic acid (18:2 omega 6) in plasma phospholipids in patients with Sjögren-Larsson syndrome did not differ significantly from that of the healthy or mentally retarded controls, indicating that the Sjögren Larsson syndrome does not involve a dietary essential fatty acid deficiency or a defect in absorption of linoleate. In the phospholipids of Sjörgren-Larsson syndrome patients, the metabolites derived from linoleic acid were found to be significantly lower than in health controls, suggesting the metabolic defect. The total products of delta 6 desaturation were reduced to 3% of that in controls, whereas the products of delta 5 and delta 9 desaturation were not noticeably affected in the patients with Sjögren-Larsson syndrome. All individuals with Sjörgren-Larsson syndrome exhibited decreased products of delta 6 desaturation which also affected subsequent metabolites in the metabolite sequence.

Adolescent↗
PubMed1981

Peri- and paracentric inversions in chromosome 12: prenatal diagnosis and family study.

Three different types of chromosome 12 inversion were seen in 15 individuals out of 44 individuals examined in one 8 generation family. Type 1: a pericentric inversion inv(12) (p112; q131) was found in 7 individuals and twice at prenatal diagnosis. Type 2: a paracentric inversion inv(12) (p123; p131) was seen in two individuals. Two individuals carried both inversion chromosomes, namely type 1 and type 2. The two inversion chromosomes were transmitted from each of the parents. Type 3: a double pericentric and paracentric inversion (type 3) inv(12) (p123; p131) (p112; q131) was observed in the daughter of one of the carriers of type 1 and 2 inversions and again at prenatal diagnosis in her son. The double inversion most likely arose through crossing-over in between the two inversion loops. A balanced translocation t(7; 13) and the inversion type 1 was observed in one individual, who transmitted the translocation only to an offspring. The frequency of inversions in amniotic fluid cells observed in our laboratory was 1.9 per cent. The clinical implications of these findings are discussed.

Adult↗
PubMed1981

A prospective analysis of antibodies reacting with pancreatic islet cells in insulin-dependent diabetic children.

Islet cell cytoplasmic and cell surface antibodies along with other autogenic tissue antibodies were determined prospectively from the day of diagnosis of insulin-dependent diabetes in a group of children and adolescents. Prior to the initiation of insulin therapy 30 out of 33 were antibody-positive, 67% having islet cytoplasmic antibodies and 67% islet cell surface antibodies. Among 74 age- and sex-matched non-diabetic individuals 1% had islet cell cytoplasmic antibodies and 3% had islet cell surface antibodies. A prospective analysis in 17 patients showed a diminishing prevalence of islet cell antibodies with increasing duration of diabetes. Islet cell cytoplasmic or cell surface antibodies were found independently of each other or in combination and with various patterns of persistence. The results indicate a strong association of islet cell antibodies with the onset of insulin-dependent diabetes in childhood and adolescence.

Adolescent↗
PubMed1981

Mild mental retardation in children in a northern Swedish county.

A series of children with mild mental retardation (171 children, IQ 50-69) born in 1959-1970 in a northern Swedish county and registered by the Board for Provisions and Services to the Mentally Retarded were analysed retrospectively. The mean annual incidence of mild mental retardation in registered children alive at the age of one year decreased during the period 1959-1970 and for the whole period was 4.2 per 1000, compared with 3.9 per 1000 for severe mental retardation in the same period of time and area. Ten children once classified as mildly mentally retarded made considerable intellectual progress and after some time no longer needed special help from the authorities. There was a pronounced male excess in the total series (1.8:1) and in all the main aetiological groups. Only small differences were found in mean birth weights, gestational age and maternal age in the main aetiological groups. In the series as a whole, however, there was an increased frequency of children small for gestational age. Prenatal causes were considered relevant in 43 per cent, perinatal in 7 per cent, and postnatal in 5 per cent. In 2 per cent there was a psychosis. In 43 per cent the aetiology could not be traced. Genetic causes were found in 31 per cent; in 8 per cent there was a chromosomal aetiology, in a further 8 per cent a mutant gene disorder and in 15 per cent the aetiology were considered multifactorial, i.e. at least one first-degree relative also had mental retardation and in both cases the cause of the retardation was unknown. Thirty per cent of the children had associated CNS handicaps, epilepsy (16 per cent) being the most frequent.

Adolescent↗
PubMed1981

Familial X-linked mental retardation and fragile X chromosomes in two Swedish families.

X-linked mental retardation (MR) associated with a fragile X chromosome was found in two Swedish families. The fragile X chromosome was demonstrated in 5/5 boys with mental retardation. Clinical data on four of these boys are presented. In one of the families, the mental retardation was associated with macro-orchidism, large hands and large, folded ears. In the other family, macro-orchidism was not seen, possible because the boys were younger. Fragile site X chromosomes were also seen in three obligate carriers. A summary of earlier published cases of X-linked MR associated with the fragile X chromosome is given.

Abnormalities, Multiple↗
PubMed1981

Sjögren-Larsson syndrome in Sweden. A clinical, genetic and epidemiological study.

Sjögren-Larsson syndrome (SLS), originally described in Sweden, has been studied in a countrywide survey. A total of 58 SLS patients in 41 families were traced, 35 of them still alive. Thirty patients, 23 alive and seven deceased, have not been reported earlier. The mean incidences per 100,000 in the years 1901-1977 were 0.6 in the whole of Sweden, 10.2 in the county of Västerbotten and 2.7 per 100,000 in the county of Norrbotten. In the above-mentioned areas, the prevalence figures of SLS on 31st December 1978 were estimated to be 0.4, 8.3 and 2.6 per 100,000 persons, the frequencies of SLS gene carriers 0.5, 2.0 and 1.0%, and the gene frequencies 0.002, 0.010 and 0.005, respectively. Of the 58 identified Swedish SLS patients, 45 were born in a restricted area in the northeast of Sweden.

Adolescent↗
PubMed1981

Urinary amino acids and organic acids in the Sjögren-Larsson syndrome.

A metabolic study of urine samples obtained from 35 patients with the Sjögren-Larsson syndrome (SLS) has been performed by means of a series of chemical tests, as well as by analysis of the amino acid pattern by high-voltage paper electrophoresis. Organic acids were analysed by gas-chromatography-mass spectrometry and qualitative analyses for mono- and disaccharides were performed by thin-layer chromatography on cellulose. No error in the amino acid, organic acid or carbohydrate metabolism was found in the SLS-patients in the present study.

Adolescent↗
PubMed1981

Blood glutathione in various phases of insulin-dependent diabetes mellitus in children.

Reduced glutathione (GSH) in whole blood was studied in 15 insulin-dependent juvenile diabetic patients at onset of diabetes (group A). In 5 of these patients the blood GSH concentration was followed during the first month after onset. The blood GSH content was also analyzed in 16 children with insulin-dependent diabetes mellitus (IDDM) with a duration of diabetes of more than 2 years (group B), and in a control group of 76 healthy children (group C). The GSH levels in groups A, B and C were 48.3 +/- 5.7, 47.1 +/- 4.6 and 47.6 +/- 4.3 mg/100 ml erythrocytes, respectively. Thus, there were no significant differences between the patients and the control group. In group A, there were no significant differences in blood GSH values at onset and 1 month later.

Adolescent↗
PubMed1981

Histidinaemia in Sweden. Report on a neonatal screening programme.

Histidinaemia screening was included in the epidemiological survey of the Swedish neonatal screening programme, 1971-72. Dried blood samples on filter paper collected neonatally from 171,000 infants were analysed the Guthrie method. A blood histidine level above 0.96 mmol/1 (15 mg per 100 ml) was regarded as a positive test and was found in 639 infants - i.e., 1/270. No further diagnostic measures were taken until 1977 when stored dried blood samples from 273 infants with a positive screening test were analysed for urocanic acid. Four children had undetectable blood urocanic acid. They were studied and histidinaemia was confirmed in two children, and excluded in two. Both histidinaemia children had normal psychomotor development at 7 years of age, in spite of the fact that no dietary treatment was given. The incidence of histidinaemia in Sweden was estimated as 1/37,00, on the basis of neonatal screening. In addition, histidinaemia was diagnosed in four individuals who were not detected in the neonatal screening programme; of these, only one had an IQ less than 85. At present, general neonatal screening histidinaemia in Sweden does not seem justified.

Adolescent↗
PubMed1980

Positive effect of a late introduced modified diet in an 8-year-old pku child.

A modified low phenylalanine diet was instituted in an 8-year-old PKU boy earlier untreated and mentally retarded. The boy was treated during a ten year observation period. A marked progress in mental capacity and in IQ scoring was seen. The difficulties in objective evaluation of the benefit of late introduced treatment with a diet low in phenylalanine is discussed.

Child↗
PubMed1980

Severe mental retardation in five siblings due to maternal phenyketonuria.

In an epidemiological investigtion of mental retardation in the county of Västerbotten in Sweden the mother of five severely mentally retarded children was found to have untreated phenylketonuria (PKU). None of the children had PKU. The maternal PKU may have been a cause of the mental retardation, retarded intrauterine growth and different types of malformations. There is now an increasing number of girls with PKU in whom dietary treatment has been carried out and already withdrawn. These girls require thorought information on the high risk of serious fetal damage before they become pregnant. Dietary treatment should be introduced before any conception.

Adolescent↗
PubMed1980

Intermittent neurological symptoms in a girl with a maple syrup urine disease (MSUD) variant.

Severe neurological symptoms, including intermittent ataxia, hallucinations and convulsions, associated with metabolic acidosis and branched-chain amino-acidemia occurred in a six-year-old girl with a variant form of maple syrup urine disease. The symptoms only appeared during periods of infection. Between these periods the girl was healthy and the biochemical findings were normal. In later episodes of infection the condition was successfully treated with a low protein diet and sodium bicarbonate. Analyses of 1-14C-leucine decarboxylase in fibroblasts revealed 10 per cent of normal activity in the girl and 50-70 per cent in the parents. The importance of early diagnosis of MSUD variants is discussed. This is the first published Swedish case of MSUD variant.

Acidosis↗
PubMed1980

Hyperaminoaciduria in mild phosphate diabetes in adults.

Quantitative urinary amino acid excretion has been studied in 23 adult patients with mild phosphate diabetes (MPD), in 22 adult control patients with various renal disorders and in 15 children, 7--19 years old, with atopic disorders (normal controls). Statistically significant increases in urinary excretion of glutamine (p < 0.01), glycine (p < 0.01) and cystine (p < 0.05) were found in the MPD patients compared to the normal controls. The urinary excretion of glutamine was significantly increased while the increases in cystine and glycine excretions were non-significant when MPD patients were compared to the control patients. In addition to clinical signs and analyses of plasma and urinary phosphate, a quantitative evaluation of urinary amino acids might be a tool in the diagnosis of MPD. The significance of the increased urinary amino acid excretion in MPD is discussed.

Adult↗