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Biomedical subjects

J E Olsson

Publications and source records attributed to J E Olsson.

At least 37 records · Page 2Linked to original sources
PubMed1992

Dopa-responsive dystonia with depigmentation of the substantia nigra and formation of Lewy bodies.

The patient, who died at 23 years of age, was first diagnosed when she was 12 year old as having a dopa-responsive dystonia with decreased concentrations of monoamine metabolites in the cerebrospinal fluid. Also the concentrations of other neurotransmitters including somatostatin, substance P and metenkefalin were lowered indicating a more widespread damage of the cerebral neurotransmitter systems. At autopsy the brain was essentially intact except for pronounced gliosis and extreme loss of melanotic nerve cells in the substantia nigra. Several remaining nerve cells showed the presence of Lewy bodies.

Adult↗
PubMed1992

Transgenic mice with a rhodopsin mutation (Pro23His): a mouse model of autosomal dominant retinitis pigmentosa.

We inserted into the germline of mice either a mutant or wild-type allele from a patient with retinitis pigmentosa and a missense mutation (P23H) in the rhodopsin gene. All three lines of transgenic mice with the mutant allele developed photoreceptor degeneration; the one with the least severe retinal photoreceptor degeneration had the lowest transgene expression, which was one-sixth the level of endogenous murine rod opsin. Of two lines of mice with the wild-type allele, one expressed approximately equal amounts of transgenic and murine opsin and maintained normal retinal function and structure. The other expressed approximately 5 times more transgenic than murine opsin and developed a retinal degeneration similar to that found in mice carrying a mutant allele, presumably due to the overexpression of this protein. Our findings help to establish the pathogenicity of mutant human P23H rod opsin and suggest that overexpression of wild-type human rod opsin leads to a remarkably similar photoreceptor degeneration.

Animals↗
PubMed1992

Cerebral ischemia associated with anticardiolipin antibodies.

Eight patients, 3 with systemic lupus erythematosus (SLE) or "SLE-like" disease, 1 with sarcoidosis, and 4 with no connective tissue disease had transient ischemic attacks (TIA) or cerebral infarctions associated with high levels of anticardiolipin antibodies (ACA). Cerebral ischemic events included amaurosis fugax, recurrent hemispheric TIA, cerebral infarction, and multi-infarction dementia. Treatment with acetylsalicylic acid was ineffective in 3 patients. Warfarin, alone or in combination with dipyridamole or steroids, may reduce the risk of further cerebrovascular events.

Adult↗
PubMed1991

Neurotologic findings in basilar migraine.

Treatment of a patient with otologic symptoms and associated migraine-like headache presents the otolaryngologist with formidable problems. Although clinical practice and scientific publications recognize their frequent association, relationships have yet to be well defined. This study seeks to add order to disarray by delineating symptoms and signs of a clearly identified group of migraine patients. Fifty patients with well-defined basilar migraine underwent a thorough neurotologic examination, as well as comprehensive auditory and vestibular testing. Patients were selected from 5880 patients seen over a 2-year period and were prospectively entered into the study after detailed questionnaires and testing were completed for each patient. The most common symptoms found were dysequilibrium, phonophobia, and head pressure. The most common signs were positional nystagmus, low-frequency hearing loss, abnormal loudness discomfort level, and an abnormality on caloric examination. Advanced vestibular testing showed abnormal amplitude scaling, abnormal toes-down pertubation, and an abnormal sway (condition 6) on dynamic posturography. There was frequently an asymmetry on computerized rotation. The author concludes that the majority of patients have subtle findings on testing, but a few have severe peripheral injury due to the basilar migraine. Findings are consistent with the theory that basilar migraine is a central nervous system maladaptation syndrome which creates otoneurologic symptoms and, in a small percentage of cases, may injure the peripheral end-organ.

Adolescent↗
PubMed1991

No evidence of linkage between the locus for autosomal dominant retinitis pigmentosa and D3S47 (C17) in three Australian families.

A linkage analysis has been performed on three Australian families segregating for autosomal dominant retinitis pigmentosa (ADRP). No evidence of linkage has been found in any of the pedigrees studied between the locus D3S47 and the gene for ADRP. The D3S47 locus was found to show very close linkage with the ADRP gene in a large Irish pedigree. Our study together with a similar report on a British family indicates that there is genetic heterogeneity in this disease.

Adolescent↗
PubMed1991

Determination of S-100 and glial fibrillary acidic protein concentrations in cerebrospinal fluid after brain infarction.

BACKGROUND AND PURPOSE: We initiated the present study to evaluate the clinical value of consecutive concentration determinations of S-100 and glial fibrillary acidic proteins in cerebrospinal fluid from patients with brain infarction. METHODS: We took sequential samples of cerebrospinal fluid from 28 patients within 48 hours, at 7 days, and at 18-21 days after the ictus. We measured astroglial protein concentrations using an enzyme-linked immunosorbent assay and also determined size of the infarction (computed tomography), clinical state of the patient (simplified activities of daily living test), blood-brain barrier dysfunction (cerebrospinal fluid/serum albumin ratio), and a myelin marker (myelin basic protein). RESULTS: We found a transient increase of both proteins in the cerebrospinal fluid during the first week after the ischemic stroke (p less than 0.05). This increment was significantly correlated with the size of the infarction and the clinical state of the patients. CONCLUSIONS: Transient release of astroglial proteins into the cerebrospinal fluid possibly reflects initial focal ischemic damage and, in the later phase, ongoing destruction of astroglial cells in the penumbra zone. We suggest that determinations of cerebrospinal fluid astroglial protein concentrations can be used to estimate ischemic brain damage, which should be of particular value in clinical trials of pharmacological agents, such as calcium antagonists, on stroke patients.

Adult↗
PubMed1991

Prognostic parameters in spontaneous intracerebral hematomas with special reference to anticoagulant treatment.

We examined a series of 200 consecutive patients with spontaneous intracerebral hematoma clinically and by computed tomography, excluding patients with trauma, aneurysm, or tumor. Hematoma volume varied from 1 to 230 (average 35) ml, and overall mortality was 30% (60 patients). Of the 200 patients, 14% (28) were receiving anticoagulants; among these 28 patients hematoma volume averaged 72 ml and mortality 57% (16 patients). The 140 survivors were followed for 2-24 months. Our findings indicate that anticoagulation therapy after previous cerebral infarction or embolism of cardiogenic origin did not predispose to intracerebral hemorrhage. Prognosis was poor when the initial level of consciousness was low and the hematoma volume exceeded 50 ml in combination with dilatation of the contralateral ventricle. An intracerebral hematoma of greater than 80 ml volume was always fatal, regardless of therapy. With volumes of 40-80 ml, early surgical evacuation of the lobar hematoma may improve outcome.

Adult↗
PubMed1990

Mutations within the rhodopsin gene in patients with autosomal dominant retinitis pigmentosa.

BACKGROUND: Night blindness is an early symptom of retinitis pigmentosa. The rod photoreceptors are responsible for night vision and use rhodopsin as the photosensitive pigment. METHODS AND RESULTS: We found three mutations in the human rhodopsin gene; each occurred exclusively in the affected members of some families with autosomal dominant retinitis pigmentosa. Two mutations were C-to-T transitions involving separate nucleotides of codon 347; the third was a C-to-G transversion in codon 58. Each mutation corresponded to a change in one amino acid residue in the rhodopsin molecule. None of these mutations were found in 106 unrelated normal subjects who served as controls. When the incidence of these three mutations was added to that of a previously reported mutation involving codon 23, 27 of 150 unrelated patients with autosomal dominant retinitis pigmentosa (18 percent) were found to carry one of these four defects in the rhodopsin gene. All 27 patients had abnormal rod function on monitoring of their electroretinograms. It appears that patients with the mutation involving codon 23 probably descend from a single ancestor. CONCLUSIONS: In some patients with autosomal dominant retinitis pigmentosa, the disease is caused by one of a variety of mutations of the rhodopsin gene.

Base Sequence↗
PubMed1990

Gene of type II autosomal dominant retinitis pigmentosa maps on the long arm of chromosome 3.

Linkage analysis has been performed on a large Australian family segregating for the autosomal dominant form of retinitis pigmentosa (ADRP). The majority of patients had no subjective symptoms of night blindness until their second decade and good visual acuity until late in life. The disease in this family has been classified as Type II ADRP according to the subdivisions provided by both Massof and Finkelstein and Fishman and colleagues. Linkage (Omax:0.08 at Zmax:4.78) is here demonstrated between the disease locus and D3S47 (a marker locus on the long arm of chromosome 3), which showed in an earlier study very close linkage without recombination to the disease locus in an Irish pedigree with a clinically more severe and early onset (Type I) ADRP.

Chromosome Aberrations↗
PubMed1990

Exclusion of the autosomal dominant retinitis pigmentosa gene from a substantial region of chromosome 1: study of a large Australian family.

In an attempt to map the gene(s) responsible for autosomal dominant retinitis pigmentosa (ADRP), the technique of reverse genetics was used on a large multigenerational Australian pedigree. The family demonstrated a form of the disease which appears to be less severe than that observed in the Irish pedigree. It was typed for 10 restriction fragment length polymorphism (RFLP) markers on chromosome 1. The data from the linkage study was analysed using the programs LIPED 3; six markers gave informative results. The ADRP gene was excluded from this family from 102 cM using previously prepared chromosome 1 maps. This accounts for 36% of chromosome 1 which is estimated to be the longest human chromosome.

Adolescent↗
PubMed1990

Neuroborreliosis simulating a progressive stroke.

A 55-year-old man with an onset and course of neurological symptoms of a progressive stroke was found to have a CNS infection caused by the borrelia spirochete. Almost complete recovery was seen after intravenous infusion of bencylpenicillin. Elevated borrelia IgG antibody titers could be seen for long time after recovery. The possibility of an infection due to neuroborreliosis must be considered. If CT scan doesn't show any focal ischemic or hemorrhagic area further investigation with lumbar puncture is necessary in stroke patients.

Anti-Bacterial Agents↗