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Biomedical subjects

J Partanen

Publications and source records attributed to J Partanen.

At least 307 records · Page 17Linked to original sources

Patients with rheumatoid arthritis and gold-induced pneumonitis express two high-risk major histocompatibility complex patterns.

Gold salt therapy-induced pneumonitis is a rare complication in patients with rheumatoid arthritis (RA). We studied HLA-A, B, C, D/DR, and complement factor B (Bf) and C4 alleles in 17 patients with RA and gold-induced pneumonitis and found that these patients had strikingly homogeneous major histocompatibility complex (MHC) markers. Eight of them (47 percent) had the alleles HLA-A3 B35 Dwl BfF C4A3,2 (BO), which were shown by family studies of some patients to be inherited as an extended MHC-haplotype with an apparent gene duplication in the C4A locus. The other high-risk phenotype, HLA-B40 with a C4 null allele, was found in eight patients (47 percent). All but three of the 17 patients had at least one of the two high-risk markers, the frequency of these combinations being clearly higher than in the two control groups: patients with RA but with no gold-induced side effects and healthy individuals. Our study shows that use of several MHC markers together results in a strong association between the markers and the disease.

Adult↗

Intravenous digoxin blunts the rise of inotropy induced by isometric exercise: a noninvasive study in healthy volunteers.

Nine healthy volunteers were studied with echocardiography and systolic time intervals at rest and after 3 minutes' isometric exercise by hand grip. The recordings were repeated after intravenous administration of 1 mg digoxin before and after autonomic blockade induced with atropine and propranolol. During hand grip the heart rate rose from 61 +/- 3 (mean +/- SEM) to 73 +/- 5 bpm (p less than 0.05). Afterload, i.e. left ventricular systolic wall stress, increased by 21% from 260 +/- 19 x 10(3) dyn/cm2 (p less than 0.05). Preload, i.e. left ventricular end-diastolic diameter (LVEDD), fractional shortening and the ratio of the pre-ejection period to the left ventricular ejection time (PEP/LVET) did not change, indicating increased contractility. After digoxin heart rate rose during handgrip from 50 +/- 2 to 65 +/- 5 bpm, and wall stress increased by 19% from 274 +/- 21 x 10(3) dyn/cm2 (p less than 0.01 for both). Even though LVEDD rose from 44.8 +/- 1.4 to 46.6 +/- 1.3 mm (p less than 0.05), fractional shortening decreased from 33 +/- 2 to 30 +/- 2% (p less than 0.05) and PEP/LVET increased from 0.292 +/- 0.014 to 0.327 +/- 0.014 (p less than 0.01). This suggests that autonomic reflexes due to digoxin obscured the increase in inotropy during static exercise. Autonomic blockade raised heart rate under digoxin from 50 +/- 2 to 90 +/- 4 bpm and mean blood pressure from 87 +/- 2 to 99 +/- 3 mmHg (p less than 0.001 for both) without changes in loading conditions.(ABSTRACT TRUNCATED AT 250 WORDS)

Adult↗

HLA antigens and complotypes in insulin-dependent diabetes mellitus.

One hundred and thirty-six Finnish patients with insulin-dependent (type I) diabetes mellitus were investigated for the HLA-A, B, D and DR antigens as well as the Bf and C4 allotypes. The statistically significant increase in the frequencies of HLA-A9, B8, B15, Dw3, Dw4, DR3, DR4, C4A0 and C4B3 was observed when compared with the healthy controls. About 79% of the patients had HLA-DR4, and 53% had HLA-DR3 antigens. A rare C4 allele C4B3 was found in 21% of the patients, whereas only in 2% among the controls (relative risk 16.35). The etiological fraction (EF) values indicated that HLA D/DR alleles were the best markers for IDDM, the observed EF for HLA-DR4 in diabetes was as high as 0.70. Examination of HLA, Bf and C4 phenotypes suggested that at least two supratypes "B15 BfS C4A3B3 D(R)4" and "B8 BfS C4A0B1 D(R)3" were markers for the susceptibility to type I diabetes, one third of our patients had either of these supratypes. The protective role of DR2 and Dw2 antigens was also confirmed: no HLA-Dw2 positive patients and only one with HLA-DR2 was found.

Alleles↗

Human MHC class III genes, Bf and C4. Polymorphism, complotypes and association with MHC class I genes in the Finnish population.

Electrophoretically detected genetic polymorphism of human MHC class III genes, factor B (Bf) and complement C4A and C4B, was studied in the Finnish population. Bf alleles were determined in a panel of sera from 70 unrelated individuals. The common Bf alleles, Bf*S and Bf*F, had frequencies of 73% and 26%, respectively. Only in 1 individual was another allele, Bf*F1, detected. The frequencies of the C4A and C4B alleles were based on studies of 254 unrelated individuals. In this panel, five different alleles were detected at the C4A locus and four at the C4B locus. At both loci an allele without a gene product, i.e. a 'null' allele, was observed with high frequency, 11% for C4A 'null' and 17% for C4B 'null'. The association of complotypes to HLA haplotypes was analyzed in 70 chromosomes. The most common combination, defined by class I and class III alleles, was HLA-B7-S31 (13%), followed by HLA-B35-F20 (8.4%) and HLA-B8-S03 (7.1%). Some HLA-B specificities, for example B15, B27 and B40, were associated with a variety of complotypes. The importance of complotyping in HLA genetics is discussed.

Complement C4↗

Molecular genetics of human major histocompatibility complex: clinical applications.

Techniques in molecular biology have proved to be very useful in the study of the biology and genetics of the MHC. In particular we have been able to study the Class II gene region in more detail. It is very important because most of the clinical interest of MHC has been focused on the Class II: Certain Class II alleles are strongly associated with autoimmune diseases, and Class II molecules play a crucial role in the interactions between the cells in immune response. DNA polymorphism studies (RFLP) have shown us that polymorphism of MHC genes seems to be considerable. Other close associations between diseases and Class II markers than using serological HLA typings have been found. Molecular cloning of the Class III genes has allowed us to analyse the molecular basis of the complement protein deficiencies, which are often associated with autoimmune diseases. Furthermore, cloning of the genes coding for steroid 21-hydroxylase has revealed the reason for the linkage between CAH and HLA, and has given a possibility for prenatal diagnosis of this disease at the DNA level.

Adrenal Hyperplasia, Congenital↗

Effectiveness of acupuncture and physiotherapy on myogenic headache: a comparative study.

Twenty-two tension-neck and headache patients were divided into acupuncture and physiotherapy groups. The quantity of muscle tension (motor unit potential spikes per time unit) was estimated three times before the beginning of the therapy, four times during a therapy period of four weeks, and two times during the follow-up period of 28 weeks. Pain level was also estimated using a visual analogue scale. In both of the groups a significant reduction of muscle tension was observed during the therapy period. After a follow-up period of 28 weeks, there was still a significant reduction of EMG activity in both groups. Also, the subjective level of headache decreased in these groups during the therapy period, and it was also significantly lowered after 28 weeks of follow-up. It is concluded that either acupuncture therapy or physiotherapy relieves pain in tension-neck and headache patients.

Action Potentials↗

EMG dynamics in polymyositis. A quantitative single motor unit potential study.

A multidimensional quantitative EMG analysis method with averaged motor unit potentials (MUPs) was applied to a study of different stages of polymyositis. The duration parameters had a general tendency to increase in polymyositis. The only exception was the total MUP duration, which decreased in the onset stage of acute polymyositis. The amplitude tended to decrease in acute polymyositis but increase in chronic, progressive polymyositis. The number of fast components both in the whole MUP complex and in the main MUP tended to increase in all stages of polymyositis. The mean fast component duration in the main MUP tended to decrease in polymyositis. Satellites (small signals time-locked to the main component but part of it) were numerous in active stages of polymyositis. There were significant quantitative differences in most of the parameters in different stages of polymyositis.

Adolescent↗

Clinical stages of progressive myoclonus epilepsy in adult patients.

Nineteen hospitalized adult patients with progressive myoclonus epilepsy were studied. According to their clinical status they were divided into three groups of severity. The ages and duration of the disease did not differ significantly between the groups. The groups showed significant differences in ability of daily living, amount of spontaneous myoclonus, IQ and psychomotor reaction time. In EEG the groups differed in respect to the dominant occipital rhythm and amount of myoclonic spikes but not in respect to universal paroxysms. Myoclonic spikes and paroxysms in EEG were only loosely related. The results yield a conclusion that the deterioration caused by the disease is individual and the progression may even cease. In this respect progressive myoclonus epilepsy differs clearly from many hereditary neurometabolic and storage diseases.

Activities of Daily Living↗

Monoclonal gammopathy with neurological signs and symptoms. A clinical, neurophysiological and muscle biopsy study.

Clinical, neurophysiological and muscle biopsy findings in ten patients with monoclonal gammopathy are reported. Three patients had polyneuropathy, one had hemiparkinsonism, one migraine and radicular symptoms and one paresthesiae and radicular symptoms. Amyloidosis was not found in muscle biopsy specimens. All but one patient with neurological findings also had positive immunofluorescence staining for tissue-bound immunoglobulins in muscle biopsy specimens. The tissue-bound immunoglobulins usually belonged to the same class as the M-component. None of the biopsies of patients without neurological findings were positive.

Aged↗

Electroneuromyographical and morphological findings in progressive myoclonus epilepsy (PME).

The purpose of this study was to assess the function of peripheral nerves and muscles and to describe morphological changes in muscle biopsies of patients with progressive myoclonus epilepsy. Electroneuromyographic studies were performed on 24 adult patients whose mental and motor skills were either little, moderately or severely impaired by the disease. In 5 patients a specimen of tibial anterior muscle was morphologically and histochemically investigated. The electrophysiological functions of the peripheral nerves and muscles showed gradual increasing abnormalities parallel to the severity of clinical deterioration. The muscle biopsies of 2 patients showed signs compatible with peripheral neuropathy. These findings suggested that progressive myoclonus epilepsy may be related to a systemic membrane disorder.

Adolescent↗

Electrophysiological signs of peripheral nerve dysfunction in progressive myoclonus epilepsy.

Electrophysiological findings were analysed in a group of 24 patients with progressive myoclonus epilepsy (PME) without Lafora bodies. Denervation activity in needle EMG and diminution of motor and sensory responses pointed out a mild axonal degeneration. We observed a significant slowing of motor and sensory conduction velocities in all the limb nerves examined, but distal motor latencies were not significantly increased. H-reflex latency of the posterior tibial nerve was prolonged. These results yielded the suggestion that there is a systemic peripheral nerve membrane dysfunction in PME.

Adolescent↗

[Not Available].

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Alcoholism↗