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Biomedical subjects

J Partanen

Publications and source records attributed to J Partanen.

At least 289 records · Page 16Linked to original sources
PubMed1988

Cerebrospinal fluid somatostatin correlates with spectral EEG variables and with parietotemporal cognitive dysfunction in Alzheimer patients.

Somatostatin levels of the cerebrospinal fluid (CSF) were correlated with variables of quantitative EEG and with neuropsychological performance in patients with probable Alzheimer's disease. Low somatostatin levels of CSF correlated with decreased beta activity and with decreased mean frequency in the combined alpha and theta EEG range. In the subgroup of mild Alzheimer cases CSF somatostatin correlated positively also with alpha power, and the peak and the mean frequency, and negatively with theta power but not with delta activity. Furthermore, low somatostatin of the CSF correlated with neuropsychological tests assessing temporoparietal dysfunction. To our knowledge, this is the first study to indicate the correlation between spectral analysis results of the EEG and CSF somatostatin suggesting that the relationship between somatostatin and EEG variables is worthy of further studies.

Aged↗
PubMed1988

Effect of ibopamine on the failing heart at rest and during isometric exercise: a noninvasive study.

Eleven patients suffering from heart failure were treated with oral ibopamine, a di-isobutyric ester of N-methyldopamine, 100 mg three times a day for 1 week and 200 mg three times a day for 3 weeks. Therapy was discontinued by one patient because of tachycardia. Left ventricular performance was evaluated with echocardiography and systolic time intervals at rest and after 3 minutes of isometric exercise using a handgrip. Six of 10 patients completing the study were in New York Heart Association (NYHA) functional class III, 2 in class IV, and 2 in class II. All patients, except one who remained stable in class II, improved their subjective condition by one functional class during 4 weeks of therapy (p less than 0.01). There were no changes in heart rate, blood pressure, rate-pressure product, cardiac index, or total peripheral vascular resistance. The left ventricular end-systolic diameter decreased after four weeks from 71.2 +/- 12.7 (SD) to 65.9 +/- 13.0 mm (p less than 0.001); the left ventricular end-diastolic diameter did not change. The ejection fraction increased from 26 +/- 8 to 32 +/- 9% (p less than 0.01). Afterload, that is, left ventricular circumferential systolic wall stress, declined as a result of decreased systolic diameter. Systolic time intervals did not vary. There were no changes due to ibopamine during isometric exercise probably owing to increased beta-adrenergic stimulation induced by the handgrip. Neither urine volume nor body weight changed. Side effects were mild except for tachycardia of one patient.(ABSTRACT TRUNCATED AT 250 WORDS)

Adult↗
PubMed1988

Peripheral neuropathy in late onset spinocerebellar ataxia.

We studied 10 patients with late onset spinocerebellar ataxia including electrophysiological and muscle biopsy examinations. Nerve conduction studies of eight patients revealed axonal neuropathy, and six cases also showed signs of the involvement of the lower motor neuron. In 9 patients quantitative analysis of single motor unit potentials (MUPs) of the tibialis anterior or biceps brachii muscles showed mild to severe neuropathic changes and in all 10 patients the histopathological examination of the tibialis anterior showed mild to severe neuropathic changes. Neither nerve conduction studies, quantitative MUP analysis, nor histological findings of the muscle were related to the severity of duration of the disease.

Biopsy↗
PubMed1988

DNA polymorphism unique for a complotype with deletion of HLA-linked C4B and 21-hydroxylase B genes causing congenital adrenal hyperplasia.

Defects in the enzyme steroid 21-hydroxylase (21-OH) result in congenital adrenal hyperplasia (CAH), a frequent disorder of steroid biosynthesis. The gene encoding the enzyme, 21-OHB, has been mapped adjacent to the complement component C4B gene in the human HLA gene complex. DNA-level analyses of patients with CAH have shown that the 21-OHB gene has often been deleted, but the detection of 21-OHB deletions in heterozygotes is often problematic because it is based on relative band intensities. We here report a DNA polymorphism in the C4A91 gene unique to one particular type of 21-OHB deletion occurring solely with a complement phenotype BfF C4A91 B null, shown earlier to be frequent in CAH patients. This marker makes direct detection of the 21-OHB deletion in heterozygotes possible.

Adrenal Hyperplasia, Congenital↗
PubMed1988

Effect of digoxin on the heart in normal subjects: influence of isometric exercise and autonomic blockade: a noninvasive study.

1. Eight healthy subjects were studied before digoxin and after successive therapy periods of 1 week 0.125, 0.25 and 0.50 mg of digoxin. The mean serum concentrations (+/- s. d.) were 0.4 +/- 0.2, 0.6 +/- 0.3 and 1.4 +/- 0.5 nmol l-1, respectively. The effects of digitalis were studied by echocardiography and systolic time intervals at rest and after 3 min handgrip exercise. Effects of simultaneous autonomic blockade induced by atropine and propranolol were also examined. 2. Digoxin in increasing doses slowed the heart rate at rest; with the daily dose of 0.50 mg from 63 +/- 10 to 53 +/- 6 beats min-1, and fractional shortening rose from 28 +/- 6 to 33 +/- 3% (P less than 0.05 for both). Preload, afterload and cardiac output did not change. The electromechanic systolic time index (QS2I) decreased (P less than 0.001) and the observed alteration of QS2I was dose-related. 3. The influence of digoxin was similar during isometric exercise, except for unchanged fractional shortening. 4. During autonomic blockade digoxin slowed the intrinsic heart rate from 93 +/- 6 to 86 +/- 6 beats min-1 (0.25 mg) and to 83 +/- 6 beats min-1 (0.50 mg) (P less than 0.01 for both). QS2I was shortened (P less than 0.01). Echocardiographically determined ejection phase indices remained unchanged. 5. When handgrip stress was induced during autonomic blockade, digoxin evoked a clearcut increase in contractile function, resembling the effects of digoxin alone at rest. Thus, fractional shortening increased by 14% and QS2I decreased by 16 ms (P less than 0.01 for both). 6. We conclude that digoxin increases the contractility in normal heart without changes in loading conditions. The rise in inotropy at rest is obvious from both fractional shortening by echo and systolic time intervals. The same takes place during handgrip with autonomic blockade, when the heart lacks sympathetic support. The influence of long-term digoxin on heart rate is partly direct without autonomic mediation. The effect of digoxin is dose-dependent.

Adult↗
PubMed1988

Low degree of DNA polymorphism in the HLA-linked lymphotoxin (tumour necrosis factor beta) gene.

Tumour necrosis factors (TNF) alpha (cachectin) and beta (lymphotoxin) are lymphokines with many biological activities. For example, the molecules regulate the immune system, which is of special interest since the genes for the TNF are located within the human major histocompatibility complex (MHC). The MHC encodes HLA-molecules that play a critical role in the cellular interactions of the immune response. To test whether genetic polymorphism in the TNF genes may be involved in the associations between HLA and autoimmune diseases, we here describe an analysis of DNA polymorphism in the human TNF-beta gene. The results show that the TNF-beta gene has only a low degree of DNA polymorphism, and that this is not associated with HLA antigens showing a strong association with autoimmune-like diseases.

Genetic Linkage↗
PubMed1988

Extended HLA haplotypes in families with insulin-dependent diabetes mellitus in northern Finland.

Haplotypes including HLA, Bf and C4 loci were analyzed in a material comprising 55 families with diabetic children. One hundred and ten haplotypes found in IDDM patients were compared with 101 haplotypes present only in healthy family members. Two complotypes, BfSC4A3B3 and SC4A0B1, were significantly more common (P less than 0.05) in the diabetic haplotypes, and these were in most cases found in haplotypic combinations with HLA-B15,Dw4,DR4 and HLA-B8,Dw3,DR3 genes, respectively. The B8/DR3 haplotype was better conserved, as 72% included the BfSC4A0B1 complotype as compared with only 35% of the B15/DR4 haplotypes with "high risk" C4A3B3 complement alleles (p less than 0.05). DR3 was found in 26% of the diabetic haplotypes and DR4 in 43%. DR4 associated with the Dw4 in 69% of cases and with Dw14 in 26% of the diabetic haplotypes. Our results confirm that the two phenotypes found earlier to be associated with IDDM in Northern Finland, e.g. "B15,BfS,C4A3B3,Dw4,DR4" and "B8,Bfs,C4A0B1,Dw3,DR3" are inherited as haplotypes.

Diabetes Mellitus, Type 1↗
PubMed1988

Complement activation and HLA-B27.

The efficiency of complement activation was studied in sera from HLA-B27 positive and negative subjects (27 with previous yersinia arthritis and 35 controls). Activation of complement with zymosan induced higher mean levels of the anaphylatoxin C3a in HLA-B27 positive sera (mean (SD) 7.40 (1.66) mg/l) than in HLA-B27 negative sera (6.41 (1.79) mg/l). Similarly, higher levels of C3d,g, another C3 breakdown fragment, were obtained in HLA-B27 positive sera after Escherichia coli 0111:B4 lipopolysaccharide treatment (17.6 (3.7)% v 15.0 (3.8)%). The differences occurred irrespective of previous arthritis, complement C4 or Bf phenotype, or variation in background complement levels. The findings suggest that an increased responsiveness to complement activators may contribute to the pathogenesis of HLA-B27 associated inflammatory diseases.

Adult↗
PubMed1988

C4 null phenotypes among lupus erythematosus patients are predominantly the result of deletions covering C4 and closely linked 21-hydroxylase A genes.

Two genes, C4A and C4B, encoding the fourth component of the complement system are linked to the HLA complex. C4 defects or C4 'null' genes can predispose to an autoimmune disease, lupus erythematosus (LE). We have used Southern blotting techniques to analyse genomic DNA from 23 patients with LE and from healthy controls, to evaluate the molecular basis of the C4 null phenotypes. In addition to the high frequencies of C4 null phenotypes and HLA-B8. DR3 antigens, confirming earlier results, we observed that among the patients both the C4A and C4B null phenotypes mostly resulted from gene deletions. Among the controls only the C4A null phenotypes were predominantly the result of gene deletions. In all cases these C4 gene deletions also extended to a closely linked pseudogene, 21-hydroxylase A (21-OHA). Altogether, 52% of the patients and 26% of the controls carried a C4/21-OHA deletion.

Chromosome Deletion↗
PubMed1988

Acute renal failure following nontraumatic rhabdomyolysis.

The etiology and clinical course of acute nontraumatic rhabdomyolysis and ensuing renal failure was surveyed in a series of 40 consecutive patients. In 28 cases the muscle damage occurred after excessive consumption of ethyl alcohol and/or other intoxications. Prolonged lying immobilized was the reason or contributing factor for rhabdomyolysis in 22 cases. The other evident etiologies were convulsions, vigorous physical exercise, arterial occlusion and hypothermia. Typical local signs of rhabdomyolysis--pain, swelling and weakness of the affected muscles--were absent in one fourth of the patients. In these cases the diagnosis was based on transient elevation of serum creatine kinase enzyme activity. Dialyses were required to manage acute renal failure in 24 subjects. All 36 survivors recovered normal renal function. Neurological defects in the extremities still persisted in 16 patients at three months' follow-up.

Acute Kidney Injury↗
PubMed1988

Effect of intravenous digoxin on the heart at rest and during isometric exercise: a noninvasive study in normal and autonomically blocked volunteers.

Nine healthy volunteers were studied with echocardiography and systolic time intervals before and after administration of 1 mg digoxin intravenously at supine rest and during 3-min isometric handgrip exercise. Eight of them were also studied following autonomic blockade, atropine (0.04 mg/kg), and propranolol (0.2 mg/kg) administered intravenously, otherwise the study program was the same. At rest, intravenous digoxin decreased the heart rate from 61 +/- 3 to 50 +/- 2 beats/min (p less than 0.001). Blood pressure, preload [defined as left ventricular end-diastolic diameter (LVEDD)] or afterload [estimated as left ventricular midsystolic circumferential wall stress (WS)], did not change. Fractional shortening increased from 29 +/- 2 to 33 +/- 2% (p less than 0.05), and the electromechanic systole time index (QS2i) decreased from 522 +/- 7 to 500 +/- 5 ms (p less than 0.01). The results indicate improved contractility due to digoxin. During handgrip, the heart rate decreased from 73 +/- 5 to 65 +/- 5 beats/min (p less than 0.01) as a result of digoxin. The LVEDD, WS or ejection phase indices, and systolic time intervals, did not change, suggesting that digoxin does not affect inotropy during isometric exercise. There was no changes in heart rate, preload or afterload, as a result of intravenous digoxin during autonomic blockade. Fractional shortening rose from 25 +/- 1 to 29 +/- 2 (p less than 0.05) and QS2i fell from 561 +/- 3 to 533 +/- 4 ms (p less than 0.001). The results indicate increased inotropy.(ABSTRACT TRUNCATED AT 250 WORDS)

Adult↗
PubMed1988

Effect of isometric exercise and autonomic blockade on the haemodynamics: a noninvasive study in healthy volunteers.

Sixteen healthy young volunteers were studied with echocardiography and systolic time intervals at rest and after three minutes' isometric exercise before and during autonomic blockade with atropine and propranolol. Isometric exercise increased cardiac output by raising the heart rate from 64 +/- 3 to 72 +/- 4 bpm (SEM) (p less than 0.01). Mean blood pressure increased from 86 +/- 2 to 104 +/- 3 mmHg (p less than 0.001) without any changes in the calculated total peripheral vascular resistance. Afterload (left ventricular systolic wall stress) rose but preload (left ventricular end-diastolic diameter, LVEDD) did not change. There was no variation in fractional shortening, maximal velocity of circumfertial fibre shortening (VCFmax) or pre-ejection period (PEP) despite increased afterload. This indicates stimulated intropy during isometric exercise. Autonomic blockade enhanced cardiac output by increasing heart rate from 64 +/- 3 to 97 +/- 2 bpm (p less than 0.001). Mean blood pressure rose from 86 +/- 2 to 93 +/- 2 mmHg (p less than 0.01) while vascular resistance fell. Afterload did not change but LVEDD shortened form 45.5 +/- 0.9 to 43.5 +/- 0.9 mm (p less than 0.001). Preload-independent VCFmax did not increase despite raised heart rate. PEP rose from 99 +/- 4 to 107 +/- 3 ms (p less than 0.01) and fractional shortening fell from 29 +/- 1 to 25 +/- 1% (p less than 0.001); these changes were greater than expected from the reduced preload. Consequently autonomic blockade seems to impair myocardial contractility despite vagal dominance at rest. Heart rate and cardiac output were not influenced by isometric exercise during autonomic blockade.(ABSTRACT TRUNCATED AT 250 WORDS)

Adult↗
PubMed1987

Involvement of somatosensory and visual pathways in late onset ataxia.

Nerve conduction studies, median nerve somatosensory (SEPs) and pattern-reversal visual evoked potentials (VEPs) were recorded in 10 patients with late onset ataxia. Nine patients had dysfunction of somatosensory pathways, eight of them axonal polyneuropathy in nerve conduction measurements, and four had also impaired impulse conduction along the visual pathways. Abnormalities in records of evoked potentials occurred as prolonged latencies rather than reduced amplitudes. The observed dysfunction of peripheral and central pathways was not related to the duration or the severity of the clinical involvement by the disease. It is emphasized, however, that there seemed to be a relationship between the prolonged SEP latencies and the impaired peripheral nerve conduction values and between the diminished VEP amplitudes and the most delayed VEP latencies.

Adult↗
PubMed1987

Association between restriction fragment length variants of the complement C4 genes and MHC haplotypes.

DNA polymorphism of the human major histocompatibility complex (MHC)-linked complement C4 genes was studied using restriction enzymes XbaI and TaqI, and Southern hybridization. The results show that some, but not all, C4 phenotypes can be divided into subtypes. Analysis of MHC haplotypes indicates that in each extended MHC haplotype, i.e. in the haplotypes having a particular combination of HLA and complotype phenotypes in significant linkage disequilibrium, the C4 genes always produce just one 'conserved' restriction enzyme fragment pattern, while in the other haplotypes the C4 genes are more heterogeneous. Furthermore, the findings provide preliminary evidence for a C4B gene duplication, and suggest that the C4 genes may often be 'corrected' alike.

Chromosome Mapping↗
PubMed1987

DNA polymorphism of human HLA-linked complement C4 allotypes, including C4 null alleles, in the Finnish population.

Human HLA-linked complement C4 gene products, C4A and C4B, show extensive genetic polymorphism. In both loci, an allele without a gene product, C4 null, is also observed. We have performed a restriction enzyme analysis of genomic DNA samples from individuals having all common (frequency over 1%) C4 protein allotypes observed in the Finnish population. Only one allotype-specific RFLP marker was observed. With some enzymes a DNA polymorphism was observed, which was not detectable by C4 protein typing. Analysis of 10 different C4B null haplotypes and 4 C4A null haplotypes suggested that only one haplotype, HLA-B8 C4A0 B1, carried a C4A gene deletion. This was observed in all 4 unrelated individuals homozygous for this haplotype.

Alleles↗