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Biomedical subjects

H Pihko

Publications and source records attributed to H Pihko.

At least 73 records · Page 4Linked to original sources
PubMed1992

Reversible mitochondrial myopathy with cytochrome c oxidase deficiency.

Two siblings, a boy and a girl born in a nonconsanguineous marriage, presented with a similar clinical course. Sucking and breathing difficulties appeared within a few weeks of birth. Clinical examination revealed profound muscular hypotonia, hepatomegaly, increased serum creatine kinase activities, and lactic acidosis. Both infants were treated with gavage feeding, the boy also needing ventilatory support. Clinically they improved gradually. Now, the boy aged 4 years and the girl aged 28 months are free of clinical signs. Muscle biopsy specimens taken at 3 months showed, in both, ragged red fibres, abnormal mitochondria, and reduced cytochrome c oxidase (COX) staining. Biochemical analysis showed COX activity to be reduced to about 25% of the normal mean. The second biopsy specimen from the boy at 16 months was normal on morphological examination, but the girl's second specimen at 13 months still showed abnormal features. These cases are examples of the rare benign reversible COX deficiency. Early diagnosis is crucial to provide intensive treatment until spontaneous clinical improvement appears.

Biopsy↗
PubMed1991

Benign muscular dystrophy with autosomal dominant inheritance.

A slowly progressive myopathy was discovered in a family in four successive generations. Eight patients (four female, four male) from three generations were examined and they showed muscle weakness affecting predominantly proximal, but also distal, muscles. Two patients had unequivocal findings in childhood, the others showed myopathy in their twenties or thirties. Working ability was lost in physically demanding jobs in the thirties, but activities of daily living were still preserved. Elbow contractures, tight heel cords and contractures of the interphalangeal joints were frequent. Serum CK activity was usually mildly elevated and electromyographic examinations revealed myopathic changes. Histopathological changes were compatible with moderately advanced muscular dystrophy in two patients, the six others had mild myopathic changes.

Adult↗
PubMed1991

Congenital hypoplastic anemia, diabetes, and severe renal tubular dysfunction associated with a mitochondrial DNA deletion.

Mitochondrial DNA (mtDNA) deletion is associated with a variety of clinical entities. In addition to progressive external ophthalmoplegia and Kearns-Sayre syndrome, mtDNA deletions have been demonstrated in Pearson's syndrome. We report an mtDNA deletion in an infant with a variant of Pearson's syndrome. Not only does she have congenital anemia, severe tubulopathy, and exocrine pancreas insufficiency, but she also has diabetes and cerebral atrophy. However, there are no signs of gut or liver involvement. Bone marrow improved while new tissues were involved, thus showing variability in progression of the disease. Decreased respiratory chain enzyme activities were demonstrated in muscle, and an mtDNA deletion was demonstrated in muscle, kidney, leukocytes, and fibroblasts.

Child, Preschool↗
PubMed1990

High-dose thiotepa with autologous bone marrow rescue in recurrent malignant oligodendroglioma: a case report.

High-dose thiotepa with autologous bone marrow rescue is a new and promising treatment modality in several kinds of solid tumors. We used this regimen in a pediatric patient who had the third recurrence of his malignant oligodendroglioma of brain that developed during '8 in 1' chemotherapy. We achieved complete response after a total dose of 1125 mg/m2 of intravenous thiotepa. Good penetration into the CNS renders thiotepa potentially useful for chemosensitive brain tumors, and one course of high-dose thiotepa can be administered with acceptable toxicity by utilizing autologous bone marrow rescue.

Bone Marrow Transplantation↗
PubMed1990

Single-photon emission computed tomography of brain perfusion: analysis of 60 paediatric cases.

Sixty-nine brain perfusion single-photon emission computed tomography (SPECT) scans were performed on 60 paediatric patients with various neurological diagnoses. SPECT was abnormal more frequently in degenerative brain diseases (82 per cent), than in epilepsy (63 per cent), encephalitis (62 per cent), cerebrovascular disease (43 per cent), or other brain disorders (43 per cent). SPECT was more sensitive than EEG, CT and MRI results. SPECT was of considerable value for diagnosis in many cases. It was a decisive aid in two cases, but misleading in another two, so SPECT must be related to findings obtained by clinical and other laboratory methods.

Adolescent↗
PubMed1990

Magnetic resonance of diseased skeletal muscle: combined T1 measurement and chemical shift imaging.

Magnetic resonance examinations of skeletal muscle with differential T1 relaxation time measurements were performed in 19 patients with muscular dystrophies and congenital myopathies, and in eight control subjects. A field echo chemical shift imaging technique was used. T1 values of muscular tissue were measured from the primary composite images, and differential T1 values were calculated separately from water and fat images. Longitudinal relaxation times of skeletal muscle were significantly increased in both dystrophies and myopathies. The results of differential relaxation time measurements suggest that intramuscular fat reduces the abnormal increase in T1 of diseased muscle tissue. When characterizing diseases of skeletal muscle by T1 relaxation time measurements, the contribution of secondary fatty infiltration must be considered.

Adipose Tissue↗
PubMed1989

Lymphocytic beta-adrenergic receptors in X-linked muscular dystrophy.

Lymphocytic beta-adrenoceptor levels, receptor binding affinity, lymphocytic basal and isoproterenol-stimulated cyclic AMP (cAMP) production and plasma catecholamine levels were studied in 49 patients with neuromuscular diseases and in 10 healthy subjects. Patients with X-linked muscular dystrophy (Duchenne, 13 patients; Becker, 4 patients) showed a significant reduction in lymphocytic beta-adrenoceptor densities (35.9 +/- 2.2 fmol/mg protein vs. 49.6 +/- 3.6 fmol/mg, controls; P less than 0.02), whereas the receptor levels for the patients with spinal muscular atrophy (15), polymyositis (10) and for Duchenne carriers (7) did not differ significantly from the corresponding levels for the control subjects. The reduction in the beta-adrenoceptor density was not correlated with the physical disability of the patients. Lymphocytic beta-adrenoceptor affinity (KD) and basal and isoproterenol-stimulated cAMP levels were all comparable to control subjects' values. Catecholamine levels showed mild inconsistent elevations in various patient groups. The results suggest that reduction in cellular beta-adrenoceptors is characteristic of X-linked muscular dystrophies. Its relationship to the basic gene defect is unknown.

Adolescent↗
PubMed1989

Gene deletions in X-linked muscular dystrophy.

Of the approximately 170 families with X-linked muscular dystrophy of the Duchenne (DMD) and Becker (BMD) type in Finland, we have studied 90 unrelated patients for intragenic deletions by using the cDNA probes described by Koenig et al. Forty-five patients (50%) had molecular deletions of one or several of the 65 exon-containing HindIII fragments. In six deletion cases junction fragments of altered size were seen. Thirty-eight (84%) of the 45 deletions were detected using only two (1-2a and 8) of the six cDNA subclones. Using a wheelchair age of 12 years to distinguish between DMD and BMD, we found that the proportions of patients with deletions were similar. Deletions were equally common in familial and sporadic disease. BMD was more commonly caused by deletions in the 5' end of the gene than was DMD. In at least three instances deletions of similar type resulted in diseases of similar severity. Of 14 patients with mental retardation seven had deletions; six of these comprised exons contained in probe 8. We conclude that cDNA hybridization studies provide a powerful diagnostic tool in DMD and BMD and that they promise to produce better insights into molecular-clinical correlations.

Chromosome Deletion↗
PubMed1988

Clinical features in a de novo interstitial deletion 15q13 to q15.

A boy with several dysmorphic features and suffering from mental and motor retardation was found to have a de novo interstitial deletion of chromosome 15, involving bands q13 to q15. His clinical picture is described and compared with the clinical features reported in other deletions of this chromosome, located or extending distally from the region associated with Prader-Willi syndrome.

Child↗
PubMed1987

The inheritance of fragile sites: apparent absence of fra(2)(q13) in the parents of three unrelated probands.

We describe the inherited folate sensitive fragile site, fra(2)(q13), in three unrelated mentally retarded children, two of them with different forms of epilepsy. Fra(2)(q13) was detected in one healthy sib of one of the probands. Except for one cell in one of the fathers, fra(2)(q13) could not be detected in any of the six parents, who were repeatedly studied using methods known to induce fragile sites of this type. These findings suggest that fra(2)(q13) is not associated with the clinical features of our patients and can be transmitted by persons not expressing it. The expression of fra(2)(q13) may be age dependent.

Child↗
PubMed1981

Partial 11q trisomy syndrome.

The syndrome caused by partial trisomy for 11q is reviewed on the basis of a patient of our own and 20 cases (including a stillbirth) from the literature. The main symptoms are presented in Tables 1 and 2. The syndrome can be suspected when, in addition to mental retardation, the following characteristics are present: short nose, long philtrum, micrognathia, retracted lower lip, and micropenis in males. In 15 families, the mother was a balanced translocation carrier and in four the father. The translocation had arisen de novo in two patients. The chromosome number was 46 in 13 affected individuals (including the stillbirth) and 47 in eight. In seven of the latter patients the other translocation chromosome was 22, and in one, chromosome 9. The breakpoints on 11q ranged from 11q121 to 11q232 (Fig. 5). There is no apparent correlation between the length of the trisomic segment and the number or severity of the symptoms (Table 2). This could be explained by assuming that most, if not all, symptoms are caused by trisomy for the Q-dark region distal to 11q232, whereas trisomy for the rest of the 11q up to q121 has few phenotypic effects. These observations support the idea that Q-dark segments, and especially certain hot spots, have a high gene density in contrast with Q-brighter regions.

Abnormalities, Multiple↗
PubMed1977

Effect of specific immunotherapy with preimmunization against alpha-fetoprotein on a mouse transplantable hepatoma.

Antibodies to autologous alpha-fetoprotein (AFP) were produced in mice by immunization with rat AFP. C57L/J mice with or without such antibodies were inoculated sc or ip with controlled numbers of cells of the syngeneic, AFP-producing, BW 7756 hepatoma. There was a linear relationship between circulating AFP and tumor mass, with elevated AFP being detectable earlier than the tumor. The AFP levels of the immunized mice were generally lower than those of control mice, and tumors could be detected before elevated concentrations of AFP appeared in the circulation. An extensive series of transplantations with varying protocols for immunization did not protect against tumor and did not affect the rate of tumor growth.

Animals↗