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Biomedical subjects

U Bengtsson

Publications and source records attributed to U Bengtsson.

At least 73 records · Page 4Linked to original sources

Deletion mapping of DNA markers to a region of chromosome 5 that cosegregates with schizophrenia.

Two independent lines of evidence support the localization of a schizophrenia susceptibility locus to the proximal long arm of chromosome 5. A partial trisomy of chromosome 5 (5q11.2-q13.3) cosegregates with the disorder in a Canadian family of Chinese descent, and DNA markers from proximal 5q cosegregate with schizophrenia (plus related disorders) in families of British and Icelandic descent. We constructed a human:hamster hybrid cell line (HHW 1064) whose only human complement is a chromosome 5 that is missing the trisomic region associated with schizophrenia. In combination with a "matched" cell hybrid (HHW 105) containing an intact chromosome 5, we physically mapped DNA markers relative to the trisomy. "Schizophrenia-linked" DNA markers p105-153Ra (D5S39) and p105-599Ha (D5S76) map within the trisomy and proximal to the 5q11.2 breakpoint, respectively. The hybrid cell lines HHW 105 and HHW 1064 together provide a means to identify and generate syntenic DNA markers to further investigate the location of a schizophrenia locus.

Animals↗

Raised number of jejunal IgG2-producing cells in untreated adult coeliac disease compared with food allergy.

The subclass distribution of IgG-producing immunocytes was studied by two colour immunohistochemistry with monoclonal antibodies in jejunal biopsy specimens from 10 adults with untreated coeliac disease, 11 coeliac disease patients on a gluten free diet, and seven patients with established food allergy. Paired immunofluorescence staining was performed with subclass specific murine monoclonal antibodies in combination with polyclonal rabbit antibody reagent to total IgG; the proportion of cells belonging to each subclass could thereby be determined. The ratio of IgG2 immunocytes was significantly higher (p less than 0.05) in untreated coeliac disease patients (median, 35.2%; range, 26.7-65.2%) than in those on a gluten free diet (median, 7.3%; range, 0-31.9%) or those having food allergy (median, 12.5%; range, 0-36.5%). The disparity in the local IgG2 response between patients with untreated coeliac disease and those with food allergy might be due to differences in the nature of the antigenic stimuli, dissimilar genetic 'make-up' of the subjects, or both.

Adolescent↗

Prenatal diagnosis and carrier detection of a cryptic translocation by using DNA markers from the short arm of chromosome 5.

DNA markers from the short arm of chromosome 5 were used to examine a large family in which a microscopically undetectable translocation was segregating. In addition to confirming that three retarded children were hemizygous for loci distal to 5p14, these analyses identified five individuals as being carriers of the balanced translocation. The use of molecular probes provided informed genetic counseling to the family for the first time. With the DNA markers from 5p, prenatal diagnosis was performed on two fetal chorionic villus samples, both of which were found to have unbalanced karyotypes. The identification of translocation carriers was complicated by recombination between the small translocated segment of 5p and the corresponding region on the normal homologue, which changed the haplotype of the translocated 5p segment.

Animals↗

Isolation of DNA markers in the direction of the Huntington disease gene from the G8 locus.

To facilitate identification of additional DNA markers near and on opposite sides of the Huntington disease (HD) gene, we developed a panel of somatic-cell hybrids that allows accurate subregional mapping of DNA fragments in the distal portion of 4p. By means of the hybrid-cell mapping panel and a library of DNA fragments enriched for sequences from the terminal one-third of the short arm of chromosome 4, 105 DNA fragments were mapped to six different physical regions within 4p15-4pter. Four polymorphic DNA fragments of particular interest were identified, at least three of which are distal to the HD-linked D4S10 (G8) locus, a region of 4p previously devoid of DNA markers. Since the HD gene has also recently been shown to be distal to G8, these newly identified DNA markers are in the direction of the HD gene from G8, and one or more of them may be on the opposite side of HD from G8.

Animals↗

Immunoglobulin subclass deficiency.

IgG subclass deficiency was first noted in 1968. Subnormal levels of one or two, occasionally three IgG subclasses may be relatively common. It has not been determined, however, at what level below the normal range the IgG subclass deficiency is of clinical relevance. It remains important to clarify this point because certain subclass deficiencies may be without relevance of their own. Because patients with decreases of various IgG subclasses often present with a number of diseases, the low immunoglobulin levels may signify the presence of other abnormalities of more biologic significance. IgG subclass deficiency has been noted in about 25% of patients with well-defined food allergy and in patients with asthma, diabetes mellitus, Henoch-Schönlein's purpura, Bechterew's disease, intractable epilepsy of childhood, Friedreich's ataxia and autoimmune cytopenias. Most commonly they have increased frequency of infections especially in the respiratory tract, including sinusitis, otitis media and bronchopneumonia, but also osteomyelitis, meningitis, septicemia and various skin infections. Low levels of various subclasses have been noted in connection with other immunodeficiencies such as ataxia-telangiectasia. In common variable immunodeficiency there is an obvious imbalance in the IgG subclasses. Furthermore IgG subclass deficiency can be seen in relatives of patients with common variable immunodeficiency and in IgA deficiency. They also occur in relatives of patients with systemic lupus erythematosus, diabetes mellitus type 1 and C2 deficiency. In a few cases of subclass deficiency gene deletions have been shown. Subnormal levels of IgG subclasses make a remarkable change in sex distribution around puberty from 3/1 in boys and girls to the reverse sex ratio among adults.(ABSTRACT TRUNCATED AT 250 WORDS)

Adult↗

Occurrence of breathing problems induced by cold climate in asthmatics--a questionnaire survey.

To obtain information on the extent and severity of asthmatic symptoms during daily life in winter, a simple questionnaire was sent to 57 asthmatic patients and a control group of 180 age-matched men and women in Göteborg. The average winter temperature there is about freezing point. About two-thirds of the asthmatic patients reported cold to be a factor causing breathing difficulties. In 37%, these symptoms made the patients avoid going out during the winter. Cold, damp air was reported by the asthmatic patients to cause more symptoms than cold, dry air. The control group reported very few respiratory symptoms.

Adult↗

Exercise stimulation in insulin-dependent diabetics, normal increase in albuminuria with abnormal blood pressure response.

Increased urinary albumin excretion rate (AER), microalbuminuria, has been regarded as a sign of incipient nephropathy. The influence of exercise on AER was investigated in 10 male type I diabetics and in 12 age-matched male controls. The duration of diabetes was 7-31 years (median 14 years). The exercise tests were performed both as a combined submaximal workload-waterload test and as a maximal workload test. Urinary albumin was measured with an ELISA technique. During exercise in both tests, no difference was seen in the AER between diabetics and their controls. However, the increase in systolic blood pressure was significantly more marked in the diabetics. There was no correlation between the blood pressure response during exercise and the AER, neither in the diabetics, nor in their controls. It is concluded, that, increased blood pressure response during exercise does not necessarily result in increased AER in type I diabetics.

Adult↗

Treatment of chronic urticaria with PUVA or UVA plus placebo: a double-blind study.

Chronic urticaria is a disease for which the available range of treatment modalities is limited. Ultraviolet radiation has recently been shown to affect histamine release from mast cells. We therefore studied the effects of PUVA and UVA on chronic urticaria. Nineteen patients took part in the study, which was designed as a randomized double-blind study. Eleven patients received PUVA, and 8 received UVA plus a placebo. In the PUVA group, 7 patients showed improvement, 3 noticed no change, and 1 became worse. In the group that received UVA plus placebo, 5 patients experienced an improvement, whereas the other 3 showed no change. The differences between the groups were not statistically significant. However, the probability of achieving this degree of improvement in both groups just by chance is less than 1%. Consequently, the improvement noted could have been due to either UVA alone or a placebo effect. It is concluded that PUVA is not better than UVA in the treatment of chronic urticaria.

Adult↗

Symptoms in patients with lowered levels of IgG subclasses, with or without IgA deficiency, and effects of immunoglobulin prophylaxis.

Several patients with subnormal levels of IgG subclasses have repeated infections. Further controlled studies are required to better define the relation between the level of the various subclasses and the possible clinical consequences. It may be important to determine whether or not IgG subclass deficiency can lead to infections which cause lung damage as was suggested in a few patients with IgA deficiency combined with low IgG subclass levels. An open study of the effect of immunoglobulin prophylaxis in 38 patients with subnormal levels of one or two of the IgG subclasses 1, 2 or 3 during altogether 1,524 months of observation suggested that many of them improved. This must be further substantiated in carefully controlled studies. Immunoglobulin prophylaxis could be given in IgG subclass deficient patients with IgA deficiency and anti-IgA antibodies, provided a preparation poor in IgA was used and the patients' anti-IgA titres did not increase during the prophylaxis.

Dysgammaglobulinemia↗

Emotions and asthma I.

Asthma, emotions and hyperreactivity are discussed. There is some evidence that emotions can affect airways calibre. A hypothesis connecting stress, hyperventilation and asthma is discussed. An investigation of asthma patients' demand for medical care in relation to emotional factors is presented.

Adaptation, Psychological↗

Improved outcome in rapidly progressive glomerulonephritis by plasma exchange treatment.

During the last 3.5 years we have had facilities to perform effective plasma exchange treatment (PE). During this period of time 12 patients of idiopathic and 19 patients of collagenous rapidly progressive glomerulonephritis (RPGN) appeared, Goodpasture's syndrome excluded. In an attempt to evaluate the separate effect of immunosuppression (IS) and PE, PE was if possible withheld for two weeks. In 3 patients IS alone had a satisfactory effect and therefore no PE was performed. In 2 severely ill patients IS and PE were instituted simultaneously. In 6 patients PE was started 5-12 days and in 17 patients at least 14 days after the start of IS. In 3 patients PE was started first because of suspected septicemia. 23 of the 31 patients improved; 6 from IS alone, 3 from IS and probably also from PE, 1 from PE and probably from IS, 5 both from IS and PE and 1 from PE alone. In 7 patients the individual effect of IS and PE could not be evaluated. At follow up 1-37 (median 13) months 13 patients had a S-creatinine below 200, 2 patients 200-300 and 1 patient 510 mumol/l. 3 patients went into RDT immediately and 7 after 4-22 months. 5 elderly patients died, only 1 from uremia, the others from cardiovascular diseases. The outcome was unpredictable from clinical and laboratory data. Addition of PE in the treatment of RPGN seems to have improved the outcome considerably.

Adult↗

Immunosuppression and the additive effect of plasma exchange in treatment of rapidly progressive glomerulonephritis.

Attempts were made to evaluate the separate effect on kidney function of immunosuppressive treatment (IS) and plasma exchange (PE) in 27 patients with rapidly progressive glomerulonephritis (RPGN). Twenty-four of the patients were treated with PE. Initial IS was supplemented with PE within 6-12 days in 5 patients, and after at least 14 days in 13. Because of suspected septicemia, 2 patients were first treated with PE, and IS was not initiated until the possibility of septicemia had been excluded. In 4 severely ill patients wih rapid clinical deterioration, both treatments were started simultaneously. Twenty patients improved during one or both treatments, 4 with IS alone, 2 with IS and doubtfully with PE, 3 with IS and probably also with PE, 5 both with IS and PE and one with PE alone. In 5 patients the individual effects of IS and PE could not be evaluated. In another 2 patients the combined treatment seemed to influence the course favourably. In the remaining 7 patients the effect of the treatment was doubtful or nil. Two further patients with Goodpasture's syndrome were treated. They were admitted late, and both kinds of treatment were instituted simultaneously. One of them died in respiratory insufficiency, the other remained oliguric while the pulmonary changes faded. Thus, PE added a positive effect to IS in several patients with RPGN. The treatment had few and mostly mild side-effects.

Adult↗