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Biomedical subjects

G Holmgren

Publications and source records attributed to G Holmgren.

At least 109 records · Page 6Linked to original sources
PubMed1991

Vitreous involvement in familial amyloidotic neuropathy: a genealogical and genetic study.

Extended genealogical studies stretching back to the 17th century were performed concerning the heredity patterns of vitreous involvement in Swedish patients with familial amyloidotic polyneuropathy (FAP). FAP is an autosomal dominant inherited disorder, characterized by extracellular deposition of amyloid and a clinical syndrome of peripheral and autonomic neuropathy. In addition, some patients show typical vitreous opacities. All patients had their origin in a restricted geographical area. Some main patterns arose from this study: 1) Patients who had vitreous opacities as the first symptom of FAP seem to form a separate group, with a distinct age of onset distribution; 2) The familial occurrence of vitreous opacities raises the possibility that other familial factors modify the expression of the FAP gene; 3) The mean age of onset for vitreous opacities is lower for homozygous than for heterozygous patients.

Adult↗
PubMed1990

Vitreous amyloidosis associated with homozygosity for the transthyretin methionine-30 gene.

Familial amyloidotic polyneuropathy is an autosomal dominant inherited disorder. Biochemical studies have revealed that the amyloid protein in familial amyloidotic polyneuropathy of Japanese, Swedish, and Portuguese origin mainly consists of a variant transthyretin with one amino acid substitution of methionine for valine at position 30, termed TTR met-30. In five Swedish patients with familial amyloidotic polyneuropathy we diagnosed homozygosity for the TTR met-30 gene using restriction fragment length polymorphism analysis. The homozygous individuals did not show more severe systemic symptoms or earlier onset than heterozygotes for the TTR met-30 gene. The only clinical difference was the presence of vitreous opacities in all homozygous patients.

Aged↗
PubMed1990

Alcohol-responsive myoclonic dystonia in a large family: dominant inheritance and phenotypic variation.

Alcohol-responsive myoclonic dystonia is reported in 26 individuals in a six-generation family, thus indicating autosomal dominant inheritance. Twenty affected family members aged between 3 and 56 years were examined on one occasion. Myoclonus in arms, shoulder, and neck distribution was seen in 17, with occasional generalized jerks in 14. Leg dystonia/hemidystonia was seen in two infant cases, writer's cramp in seven, torticollis/retrocollis in two, and finger tremor in three. The onset of myoclonus was regularly reported from 2 to 3 years of age, the onset of leg dystonia/hemidystonia from 6 to 18 months of age, writer's cramp from early school age, and neck dystonia from late teenage. The effect of alcohol had been noted in 10 individuals, and seven of them abused alcohol. Once established, the neurological signs did not progress significantly. Leg dystonia resolved in two juvenile members. Two adult members had recovered from myoclonus: one elderly man and one posthemorrhagic spastic hemiplegic man. Extensive family investigation is necessary to clarify the clinical variation of this autosomal dominant disorder of involuntary movements.

Adolescent↗
PubMed1990

Clinical and electroencephalographic characteristics of epilepsy in rural Ethiopia: a community-based study.

A community-based epidemiological study of neurological disorders was performed in a rural area in Ethiopia. The most prevalent neurological disorder identified was epilepsy, found in 316 persons. The prevalence of epilepsy was 5.2/1000 inhabitants at risk, 5.8 for males, 4.6 for females. The highest age-specific prevalence was found for ages 10-19 years. Generalized tonic-clonic seizures were the most common seizure type and occurred in 81%. On clinical grounds, partial seizures occurred in 20% and in 29% of these secondary generalization followed. During seizures, 8.5% had been injured by burns and 5.7% by trauma. Eighty-four percent had seizures at least monthly. Seizures occurred in 4.8% of siblings. Traditional treatment with local herbs, holy water and amulets was the most common. Only 1.6% had been treated with recognized antiepileptic drugs. Mental retardation was the most common associated disorder, found in 7.9% of the persons with epilepsy. During a period of 2 years, 8 persons died of status epilepticus and 1 from severe burns as a result of falling into a domestic fire during a seizure. EEG was recorded in 73%. Epileptiform activity occurred in 18%.

Adolescent↗
PubMed1990

Community-based study of neurological disorders in rural central Ethiopia.

Between 1986 and 1988 a door-to-door survey was conducted on a stable rural population of 60,820 in central Ethiopia. Trained lay health workers made a complete census and identified cases with symptoms and signs of neurological disorders, using specially designed questionnaires which, in a previous pilot study, were found to have a sensitivity of 91% and specificity of 85%. Neurological disorders in the rural population were epilepsy, postpoliomyelitis paralysis, mental retardation, peripheral neuropathy (mainly due to leprosy), and deaf-mutism with prevalence rates (cases/100,000 population) of 520, 240, 170, 150 and 130, respectively. The prevalence rates of the other less common neurological disorders were 62 for hemiparesis (15 of which were for cerebrovascular accidents), 20 for cerebral palsy, 16 for optic atrophy, 12 for perceptive deafness, 10 for tropical spastic paraparesis, 7 for Parkinson's disease and 5 for motor neuron disease, ataxia and chorea/athetosis. Among related non-neurological conditions, blindness, locomotor disability and deafness were predominant. The significance and role of such a neuroepidemiological study in laying the strategies for the prevention of neurological disorders and rehabilitation of patients are discussed in the context of a developing country.

Adolescent↗
PubMed1990

Association of C3 and C4A complement types with familial amyloidotic polyneuropathy.

A mutant variant of the serum protein transthyretin (TTR-met30) appears to be a necessary but not sufficient condition for the development of familial amyloidotic polyneuropathy (FAP). We have studied a number of serum protein markers (alpha 1-antitrypsin, properdin factor B, C3, C4A, C4B, haptoglobin, transferrin and group-specific component) in FAP patients and healthy controls in an attempt to identify additional pathogenic factors which may influence the risk for developing FAP in male and female patients as well as the age of onset of the disease. Statistically significant associations were found in the complement systems C3 and C4A. The C3F variant was significantly increased in all FAP patients with a relative risk (RR) of 2.0, more pronounced in female patients (RR = 2.6) and patients with an early onset of the disease (RR = 4.5). In the FAP patients only the variants A3 and A4 were found in the C4A system. C4A3 was found in all patients, which was significantly higher than in the controls. The remaining serum protein systems showed no statistically significant associations with FAP. The results suggest that genetic variants of complement factors C3 and C4A may interact with the mutant TTR-met30 by modifying the expression and onset of FAP.

Age Factors↗
PubMed1990

Incidence, prevalence and etiology of hearing impairment in children in the county of Västerbotten, Sweden.

During the period 1964-83, 63,463 children were born in the county of Västerbotten, Sweden. Of these children, 160 had a hearing impairment greater than or equal to 30 dB HL mean hearing loss for the frequencies 0.5, 1.0 and 2.0 kHz in the better-hearing ear. The mean annual incidence of hearing impairment was 2.5 per 1,000 and the prevalence was 2.6 per 1,000. Hereditary factors were present in 46% and no etiology could be established in 34% of the cases. The incidence of hearing impairment was greater than has been presented in studies from other areas in Europe.

Adolescent↗
PubMed1990

Community-based study of neurological disorders in Ethiopia: development of a screening instrument.

This paper describes the development of a screening instrument for a community-based neuroepidemiological survey in a rural community in Ethiopia. A pilot study in 1984 to pre-test the questionnaires developed revealed that epilepsy, poliomyelitis, mental retardation and speech disturbances were the most common neurological disorders among the 3,000 rural inhabitants surveyed. The study suggested that a base-population of about 50,000 was required for a future major epidemiological survey to identify rare neurological disorders.

Adolescent↗
PubMed1989

Isolation of a DNA probe of potential use for diagnosis of the fragile-X syndrome.

A new cloned DNA probe (U6.2), which recognizes polymorphisms near the locus for the fragile-X syndrome, was isolated. No recombinations were observed between the probe and the disease locus, although recombinations were observed with several other probes known to be located close to the fragile site. The locus defined by the probe, DXS304, cosegregated with the fragile-X phenotype in 29 informative meioses (zeta = 4.97, tau = 0.00). The degree of polymorphism at this locus and its proximity to the fragile-X locus makes it useful for carrier diagnosis and as a new starting point for attempts to clone the gene responsible for the disease.

DNA Probes↗
PubMed1989

Sjögren-Larsson syndrome: inherited defect in the fatty alcohol cycle.

We investigated fatty alcohol metabolism in eight patients with Sjögren-Larsson syndrome, and in nine obligate heterozygotes. Fatty alcohol: nicotinamide-adenine dinucleotide oxidoreductase (FAO) activity was deficient in cultured skin fibroblasts (mean 18% of normal, n = 8) and peripheral blood leukocytes (mean 22% of normal, n = 3) from patients with Sjögren-Larsson syndrome. The palmitoyl coenzyme A-inhibitable component of FAO activity was decreased to 10% and 15% of normal in fibroblasts and leukocytes, respectively, of patients with Sjögren-Larsson syndrome. Most affected patients accumulated long-chain fatty alcohol in plasma, with a greater relative accumulation of octadecanol (mean threefold greater than normal) than hexadecanol (mean twofold greater than normal). Erythrocyte lipid alkyl ether linkages derived from hexadecanol were slightly increased in three of four patients. Fibroblasts and leukocytes from heterozygotes with Sjögren-Larsson syndrome showed mean FAO activities that were intermediate between those seen in homozygotes and in normal control subjects. The heterozygotes had normal fatty alcohol concentrations in plasma. These studies demonstrate FAO deficiency in patients with Sjögren-Larsson syndrome, and suggest that accumulation of fatty alcohol or its metabolic products may be important in the pathogenesis of this disorder.

Adolescent↗
PubMed1989

The effect of CPH 82 on the growth of human lymphocytes in vitro. Definition of cytobiological action.

A drug composed of two semisynthetic podophylline derivatives, CPH 82, has recently been launched for the treatment of severe rheumatoid arthritis. The present in vitro study of PHA-stimulated human T-lymphocytes showed that CPH 82 arrested cell division in a metaphase-like configuration. The cell cycle effects of CPH 82 were indistinguishable from the cell cycle effects of the classical microtubule depolymerizers, Colcemid (a colchicine derivative) and podophyllotoxin. A CPH 82 concentration of 1 microgram/ml, which is close to therapeutic serum concentrations, had an almost maximal effect on cell division. It is suggested that at least part of the anti-inflammatory effect of CPH 82 is due to a colchicine-like activity on, for example, proliferating lymphocytes.

Glycosides↗
PubMed1989

Trichorhinophalangeal syndrome type I and systemic lupus erythematosus with complement C4A homozygous null alleles in the same family.

A three generation family from northern Sweden with both trichorhinophalangeal syndrome type I (TRP I) and systemic lupus erythematosus (SLE)-like syndrome with complement C4 homozygous null alleles is described. Five family members in three generations were affected by the TRP I syndrome, indicating autosomal dominant inheritance. Two members had clinical and laboratory signs of SLE and two other members SLE-like syndrome. All living family members in the first and second generation had homozygous C4A null alleles. In three of the adults the two syndromes occurred simultaneously, probably in this family by coincidence.

Abnormalities, Multiple↗
PubMed1989

On the prenatal diagnosis of congenital adrenal hyperplasia (CAH) by measurement of amniotic fluid 17-alpha-hydroxyprogesterone, aldosterone and cortisol.

Forty amniotic fluid samples of both sexes were collected in the 16th gestational week and analysed for 17 alpha-hydroxyprogesterone (17-OHP), cortisol, and aldosterone. Hormone concentrations were also analyzed in amniotic fluid of a male fetus postnatally diagnosed as having the salt-losing form of congenital adrenal hyperplasia (CAH). The mother also had CAH of the non-salt-losing type. Hormone concentrations were also determined prenatally in two pregnancies at risk. Amniotic fluid from the pregnancy with the CAH fetus had an approx. six-fold elevated 17 alpha-hydroxyprogester one level, whereas cortisol and aldosterone levels were within the normal range when compared with controls. Hormone concentrations in the two pregnancies at risk were within normal limits and subsequently a healthy boy and a healthy girl were born. Institution of cortisone in the mother during early pregnancy was made in one of the pregnancies. The treatment was withdrawn when normal amniotic hormonal levels were obtained. No sex difference in concentrations of 17-OHP or cortisol was found in the controls, whereas there was a marked sex difference in aldosterone levels (p less than 0.005) with male fetuses having higher concentrations. Diagnosis of CAH in the 16th gestational week can be made by analysing amniotic fluid concentrations of 17 OHP. As cortisol and aldosterone levels were within normal range of the CAH-fetus, they are probably of little use for the prenatal diagnosis of CAH-fetuses/or to differentiate the simple virilizing and the salt-losing forms of CAH. Restriction fragment length polymorphism (RFLP)- analyses of the 21-hydroxylase gene in the fetus gave little further information.

Adrenal Hyperplasia, Congenital↗
PubMed1989

Linkage analysis of families with fragile-X mental retardation, using a novel RFLP marker (DXS 304).

A new polymorphic DNA marker U6.2, defining the locus DXS304, was recently isolated and mapped to the Xq27 region of the X chromosome. In the previous communication we describe a linkage study encompassing 16 fragile-X families and using U6.2 and five previously described polymorphic markers at Xq26-q28. One recombination event was observed between DXS304 and the fragile-X locus in 36 informative meioses. Combined with information from other reports, our results suggest the following order of the examined loci on Xq: cen-F9-DXS105-DXS98-FRAXA-DXS304-(DXS52-F8 -DXS15). The locus DXS304 is closely linked to FRAXA, giving a peak lod score of 5.86 at a corresponding recombination fraction of .00. On the basis of the present results, it is apparent that U6.2 is a useful probe for carrier and prenatal diagnosis in fragile-X families.

Chromosome Mapping↗