Characteristics of solitary waves and weak double layers in the magnetospheric plasma.
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Journal Article↗
Biomedical subjects
G Holmgren
Publications and source records attributed to G Holmgren.
Restriction fragment length polymorphism analysis of mutated transthyretin in vitreous amyloidosis.
Amyloid deposits of the vitreous are usually associated with familial amyloidotic polyneuropathy (FAP). Various mutated forms of transthyretin (prealbumin) seem to form the main amyloid fibril component. Five Swedish patients, all with vitreous amyloidosis but no systemic symptoms or family history of amyloidosis, were examined using restriction fragment length polymorphism analysis. Genomic DNA was tested with a transthyretin complementary DNA probe. After cleavage with Nsi1, two restriction fragment length polymorphism markers of 5.1 and 1.5 kilobase were detected in the patients but not in the control subjects. These observations indicate the same methionine for valine substitution at position 30 of the transthyretin molecule in patients with vitreous amyloidosis as seen in Swedish patients with FAP as well as in patients with FAP from Japan and Portugal, and patients of Swedish descent with FAP from the United States.
Aged↗
Homozygosity for the transthyretin-met30-gene in two Swedish sibs with familial amyloidotic polyneuropathy.
Familial amyloidotic polyneuropathy (FAP) is an autosomal dominant inherited disorder. Recent biochemical studies have revealed that amyloid protein in FAP of Japanese, Swedish and Portuguese origin mainly consists of a variant transthyretin (TTR) (formerly called prealbumin) with one amino acid substitution of methionine for valine at position 30. In a 56-year-old man with typical polyneuropathy, gastrointestinal problems and vitreous amyloid, we diagnosed homozygosity for the TTR-met30-gene using RFLP analysis. In a family study, a sister presented the same homozygous RFLP pattern; however, in a careful clinical investigation we were not able to demonstrate any of the typical symptoms of FAP, nor could we demonstrate amyloid deposits in a biopsy skin specimen. This is the first report of homozygosity for the TTR-met30-gene, and it shows that the mutation of the protein involved in amyloid formation may be necessary but is clearly not sufficient for the clinical symptoms.
Adult↗
Diagnosis of familial amyloidotic polyneuropathy in Sweden by RFLP analysis.
Genomic DNA from 17 Swedish patients with familial amyloidotic polyneuropathy (FAP), and 50 healthy controls were tested with a cDNA transthyretin probe. In seven of the patients, FAP was not reported in either of their parents. All 50 controls showed restriction fragments of 6.6 kb and 3.2 kb after cleavage with Nsil, while the 17 FAP patients showed RFLP markers of 5.1 and 1.5 kb. These observations indicate the same methionine for valine substitution at position 30 in Swedish patients with FAP as seen in patients with FAP from Japan, Portugal and FAP-patients of Swedish descent from USA. However, the mean onset of FAP symptoms for the 17 Swedish patients was found to be significantly later than for the patients from Japan, Portugal and USA.
Adult↗
Amelogenesis imperfecta: a genetic study.
The mode of inheritance and the clinical manifestations of amelogenesis imperfecta (AI) were studied in 51 families from the county of Västerbotten, northern Sweden. Autosomal dominant (AD) was the most probable mode of inheritance in 33 families, but X-linked dominant (XD) inheritance was a possible alternative in one family. Autosomal recessive (AR) inheritance was found likely in 6 and X-linked recessive inheritance in 2 families. Ten probands were sporadic cases. In the families with AD inheritance, a sex difference was observed between affected and non-affected cases, with an excess of females in the affected group (p less than 0.05). In addition to the 78 index cases, 107 new cases were diagnosed. The clinical manifestations of AI observed could be divided into 2 forms, the hypoplastic form in 72% and the hypomineralization form in 28% of the individuals. AD inheritance was seen in 89% of the cases with the hypoplastic form, and in 44% of the cases with the hypomineralization form. In most families with AD or AR inheritance, each family displayed a characteristic manifestation of either hypoplastic or hypomineralization defects. In 3 families, both hypoplastic and hypomineralization forms of AI were seen. In families with X-linked inheritance, the clinical manifestation differed between females and males with males more seriously affected.
Adolescent↗
Near-haploidy in childhood leukemia: a high-risk component.
We present a 4-year-old girl with acute lymphocytic leukemia (ALL) and only 25 chromosomes at cytogenetic examination of her bone marrow. Severe hypodiploidy is extremely rare in childhood leukemia and is almost exclusively associated with ALL. To our knowledge only six cases with banded metaphases have been published. The chromosome number in the present case is the lowest ever reported. Our patient as well as other reported cases have disomy for chromosome 21. The prognosis for ALL with hypodiploidy is poor with a reported mean survival of 9 months. All published patients are females.
Bone Marrow↗
Cluster formation in PHA-stimulated mononuclear cells from peripheral blood: effects of colcemid and taxol.
Mononuclear cells from peripheral blood were incubated with phytohemagglutinin (PHA) for 24-72 hours. The cells formed dense cell clusters with firm cell-to-cell attachment and signs of cell communication, proliferation and differentiation. At the end of a 72-hour period of incubation, the test preparations were treated for 90 minutes with the classical microtubule antagonist Colcemid and the new microtubule antagonist taxol. Taxol produced approximately twice as many mitoses as Colcemid. Chromosomes in taxol-blocked mitoses appeared to be more contracted than chromosomes in Colcemid-blocked mitoses. It is suggested that one beneficial side effect of Colcemid preparation of chromosomes is stretching due to microtubule disassembly.
Alkaloids↗
Autosomal dominant torsion dystonia in a Swedish family.
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Adolescent↗
Structurally abnormal transthyretin causing familial amyloidotic polyneuropathy in Sweden.
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Amino Acid Sequence↗
Male fetus with epignathus originating from the ethmoidal sinus.
Epignathus or teratoma arising from the hard palate nasal cavity is an extremely rare abnormality. This tumour usually causes death in neonatal life because of its location and because surgical removal is often impossible. We are presenting a case of epignathus originating from the ethmoidal sinus delivered at gestational week 29 by caesarean section due to increasing hydramniosis. The child died within a few minutes. Prenatal diagnosis is important for genetic counselling, obstetric management and, in some cases, neonatal surgery.
Adult↗
Congenital ichthyosis with alopecia, eclabion, ectropion and mental retardation--a new genetic syndrome.
A syndrome with severe generalized congenital ichthyosis, alopecia, eclabion, ectropion and mental retardation without neurological symptoms or macular changes in the eyes was seen in two sibs and in two aunts and uncles in an inbred North-Swedish family. The clinical picture of the patients in the present family strongly deviated from that seen in the Sjögren-Larsson syndrome found in the same area. This could be a new syndrome with autosomal recessive inheritance.
Adult↗
Linkage of G8 (D4S10) in two Swedish families with Huntington's disease.
Two Swedish families with Huntington's disease (HD) have been investigated for linkage with G8 (D4S10). In one family from northern Sweden (Family 1) 48 family members were examined, and in another family from the southwestern part of Sweden (Family 2) 14 family members were examined. The lod scores were 1.531 for Family 1 and 2.057 for Family 2, and the combined lod score was 3.59. The HD gene was segregating with the haplotype C in Family 1 and with haplotype A in Family 2. The predictive value of the test was obvious. Before the testing with the G8 probe, 84.2% of the family members in Family 1 had a theoretical risk of 25% or 50% of having the HD gene. After the testing with the G8 probe, only 23.7% of the family members remained at the same risk, and it could also be certified that 63.2% had no or little risk of having the HD gene. Only one asymptomatic person was predicted to have HD.
Female↗
DNA studies of X-linked mental retardation associated with a fragile site at Xq27.3.
The fragile-X mental retardation syndrome (FRAX-MR) is one of the most prevalent X-linked diseases. In affected males and in a proportion of carrier females a fragile site at Xq27.3 [fra (X)] is detected when the lymphocytes are cultured under conditions of thymidine deprivation. The fra (X) analysis can be used in the diagnosis of only 56% of carrier females (13, 14) and prenatal diagnosis by this method is not always feasible, thus making genetic counselling of affected families difficult, and sometimes impossible. We have analysed FRAX-MR families using RFLP and four DNA probes from Xq27-Xq28. Estimation of the recombination fraction indicates that the proximal probe F9 is not significantly linked to the FRAX-MR locus while the three distal probes F8, DXS52 and DXS15 show linkage. These probes could be used in the diagnosis of FRAX-MR in those families that do not show evidence for recombination. Used in conjunction with the fra (X) analysis, the segregation studies with these probes should improve the genetic counselling of the FRAX-MR syndrome and should be useful for the genetic and molecular analysis of this unique disease.
Chromosome Fragile Sites↗
Chromosomal aberrations in mildly mentally retarded children in a northern Swedish county.
Few studies of the frequency of chromosomal aberrations in an unselected material of mildly mentally retarded children have been published. The present paper summarizes the chromosomal abnormalities in children with mild mental retardation (MMR) in Västerbotten in the northernmost part of Sweden. Chromosome analyses were carried out by routine methods. In addition, children whose MMR had no clear diagnosis or cause were investigated as regarding X-chromosomes with a fragile site and selected cases with banding techniques. Every mentally retarded child born between 1959 and 1970 in the county of Västerbotten was traced. Out of a total number of 40,871 individuals, 171, i.e. 4.2 per 1,000, were found to be mildly mentally retarded. Chromosomal aberrations were seen in 11.9% of the children with MMR, compared with 39.1% of the 161 children with severe mental retardation (SMR) in the same population. The proportion of cases with mental retardation of unknown etiology is high, especially amongst those with MMR. The use of high resolution banding and other modern cytogenetic methods should reduce this figure.
Chromosome Aberrations↗
Aspects of prenatal prevention.
There has been strong progress in the field of prenatal prevention during the last decade. New technical advances have made it possible to diagnose new disorders prenatally and in the near future intrauterine treatment will become feasible for some of them.
Female↗
Analysis of fragile X-mental retardation families using flanking polymorphic DNA probes.
Fragile-X mental retardation (FRAX-MR) is one of the more common X-linked disorders affecting 1 in 1,500 newborn males. This disease is characterized by the expression of fragile site in the region q27.3 of the X-chromosome of affected boys when their lymphocytes are cultured in folate deficient medium. In most patients there is macroorchidism postpubertally. The clinical diagnosis of carrier females based on the expression of fragile site in Xq27.3 is usually difficult and sometimes impossible. About half of the carrier females escape diagnosis by this method. Furthermore, prenatal diagnosis is not always feasible. Using Restriction Fragment Length Polymorphism (RFLP) and cloned DNA segments from the region Xq27-Xqter as probes, we have investigated Swedish families with FRAX-MR in three generations. Interesting observations, previously unreported to our knowledge, have been made in some patients and carrier mothers, using one of the probes which is localized to the distal end of Xq. The significance of these findings and the linkage of the disease locus to the different probes used in this study is presented.
DNA↗
Studies of HLA, factor B (Bf), complement C2 and C4 haplotypes in type 1 diabetic and control families from northern Sweden.
The HLA-A,-B,-C,-DR antigens and the complement factors C2, C4 and Bf were determined in 30 insulin-dependent diabetes mellitus (IDDM) patients and 30 healthy controls from northern Sweden. Family studies allowed the deduction of extended haplotypes in the HLA and complement systems. Phenotype studies revealed significant associations between IDDM and HLA-DR4 (p less than 0.001), HLA-DR3 (p less than 0.05), HLA-DR3/4 (p less than 0.025), C4-B3 (p less than 0.001) and Bf-S (p less than 0.025). Haplotype studies showed that the extended haplotype [HLA-B15, C2-1, C4-A3B3, Bf-S, HLA-DR4] had a particularly strong association to IDDM. This haplotype was found in 10 out of 30 IDDM probands but in none of 30 control children and accounts for practically all the C4-B3 allotypes among the 30 IDDM probands. The C4-B3 gene therefore seems to be a valuable marker for IDDM. No haplotype containing HLA-DR3 was increased in frequency among the IDDM probands. The extended haplotype [HLA-B7, C2-1, C4-A3B1, Bf-S, HLA-DR2] present among the controls was absent in the IDDM probands. The frequency of the extended haplotype [HLA-B15, C2-1, C4-A3B3, Bf-S, HLA-DR4] was increased also among the parents to the IDDM probands compared to those of the control parents, whereas the frequency of [HLA-B7, C2-1, C4-A3B1, Bf-S, HLA-DR2] was decreased. The extended haplotype [HLA-B8, C2-1, C4-B1, Bf-S, HLA-DR3] was more common among the males (p less than 0.05) compared to the females in the total material. The family analysis showed that 3 out of 5 affected sibs shared both haplotypes with their IDDM proband. This was the case for only 3 out of 35 unaffected sibs.
Adolescent↗
The epidemiology of diabetes in Swedish children 0-14 years--a six-year prospective study.
Since 1 July 1977, all newly diagnosed diabetic children in Sweden aged 0-14 years have been reported to a central register. During the first 6 years, 2300 newly diagnosed diabetic children out of a population of 1.6 million children were registered. The degree of certainty was close to 100%. The mean of the yearly incidence rate for the whole 6 year period was 23.6 per 100000. The prevalence of insulin dependent diabetes mellitus on 1 July 1980 was 1.48 per 1000 and 1.52 on 1 July 1983. Comparing the first and second 3-year periods, an increase was found (22.7-25.1 per 100000). This increase was consistent when analyzing incidence rates by age, sex, and geographical distribution. Cumulative incidence rates revealed a risk of developing diabetes by the age of 15 years of 3.6 per thousand for boys and 3.2 per thousand for girls. The higher incidence for boys was consistent throughout the study period. Seasonal variations in the incidence rate were also consistent, showing yearly incidence peaks in the autumn and winter months. Incidence peaks were noted for both sexes in the pubertal ages. Age- and sex-standardized morbidity ratios varied significantly within the country. 12.8% of the probands had a first degree relative with Type 1 diabetes, and it was twice as common that this relative was a father as a mother. The high and rapidly increasing incidence of Type 1 diabetes in a genetically stable population such as Sweden calls for case-control studies directed towards the identification of environmental pathogens.
Adolescent↗