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Biomedical subjects

H Somer

Publications and source records attributed to H Somer.

At least 73 records · Page 4Linked to original sources
PubMed1990

Amyloid in familial amyloidosis, Finnish type, is antigenically and structurally related to gelsolin.

Immunohistochemical studies of six patients with familial amyloidosis, Finnish type, showed that their amyloid deposits did not react with polyclonal antibodies against the amyloid proteins of other, established forms of systemic or cerebral amyloidosis. However, strong immunoreactivity was observed with rabbit antiserum raised against a low molecular weight purified amyloid subunit isolated from one of the patients. This immunoreactivity was abolished by absorption with the low molecular weight amyloid fraction. The amino terminal sequence of the amyloid protein subunit was homologous to gelsolin, an actin-modulating protein, and the amyloid deposits in tissues reacted with a monoclonal antibody against gelsolin. These studies show that the amyloid protein in familial amyloidosis, Finnish type, is not related to previously identified forms of amyloid, including prealbumin (transthyretin) variants, but represents a novel amyloidogenic protein related to gelsolin, a plasma and cytoplasmic protein.

Actins↗
PubMed1989

Neurological outcome after out-of-hospital cardiac arrest. Prediction by cerebrospinal fluid enzyme analysis.

The prognostic value of cerebrospinal fluid (CSF) and serum neuron-specific enolase and brain-type creatine kinase isozyme (CK-BB) measurements was studied in 75 consecutive victims of out-of-hospital cardiac arrest. All patients with a CSF neuron-specific enolase level of more than 24 ng/mL 24 hours after cardiac arrest remained unconscious and died. The CSF CK-BB level was as reliable as an index of brain injury. Cerebrospinal fluid neuron-specific enolase, CSF CK-BB and serum neuron-specific enolase levels correlated with the neurological outcome at 3 months. Thus, the analysis of these enzymes in CSF seems to be useful in the early prognostic assessment of cardiac arrest victims.

Adult↗
PubMed1989

Myasthenia gravis associated with multiple sclerosis. Epidemiological survey and immunological findings.

Patient registers on myasthenia gravis (94 patients) and multiple sclerosis (991 patients) from a population of 1.5 million were reviewed to find patients with both diseases. Seven potential candidates were found, but both diagnoses were confirmed in 2 women only. The first patient had also iritis, the second patient had, besides MG and MS, bronchial asthma and polyarthritis. Both neurological diseases had a relatively mild clinical course. Thymectomy relieved MG symptoms in both patients. Cerebrospinal fluid studies during the follow-up indicated immunoactivation within the central nervous system. Changes in cellular immunity were also noted. The HLA types were different. The combination of these two diseases appears to be more common than expected.

Adolescent↗
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

Muscle-eye-brain disease (MEB)

Clinical features of a rare congenital myopathy, muscle-eye-brain (MEB) disease, are described in 19 patients. The pedigree data suggest an autosomal recessive inheritance. The patients presented with congenital hypotonia and muscle weakness. Serum CK was elevated, EMG was myopathic and muscle biopsy showed slight or moderate changes compatible with muscular dystrophy. Ophthalmological findings included severe visual failure and uncontrolled eye movements associated with severe myopia. The flash VEPs were exceptionally high, whereas non-corneal ERG was unrecordable. The EEG showed progressive abnormalities after the age of 6 months. Psychomotor development was slow during the first years of life, and mental retardation was severe. Most patients began to deteriorate around age 5 years. This change included spasticity and joint contractures. CT scans showed ventricular dilatations and abnormally low white matter density in several patients. Spasticity, high VEPs and ocular manifestations differentiate MEB from the Fukuyama type congenital muscular dystrophy.

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

Microangiopathy with encephalopathy, hearing loss and retinal arteriolar occlusions: two new cases.

Two young women developed encephalopathy, hearing loss and retinal arteriolar occlusions. Their behaviour became immature and cognitive functions were severely impaired. One of the patients underwent brain biopsy, which showed several microinfarcts in both white and grey matter and microangiopathic changes, with thickened arteriolar segments staining intensely for laminin and fibronectin. These findings support the concept of a new type of microangiopathy involving the brain, inner ear and retina.

Adult↗
PubMed1988

Congenital fiber type disproportion in an adult: a morphometric and microchemical study.

A 20-year-old man with marfanoid habitus had a history of congenital hypotonia and muscle weakness. Muscle biopsy showed extreme fiber type disproportion. There was total absence of Type 2B fibers. The severely hypertrophic Type 2A fibers showed twice the normal concentration of creatine phosphate at rest. These advanced morphometric, histochemical and biochemical changes may be interpreted as compensatory phenomena, which may explain the patient's pronounced functional improvement with advancing age.

Adenosine Triphosphatases↗
PubMed1988

Closed cervicocranial trauma, "false aneurysm" of the internal carotid artery and brain infarction.

A 17-year-old man developed acute hemiparesis 6 months after a motor cycle accident. In the accident he had a closed trauma on the contralateral side of the head and the neck, with multiple bone fractures. Aortocervical angiography, performed after the infarction, revealed a 2.5 cm long aneurysmatic dilatation in the internal carotid artery, the presumably source of embolic infarction. This and the 24 other cases gathered from the literature support the notion that closed neck trauma may create "false aneurysm" which again may cause neurological deficits.

Accidents, Traffic↗
PubMed1988

Osteoporosis-pseudoglioma syndrome: clinical, morphological, and biochemical studies.

We report a sibship of a sister and brother with osteoporosis-pseudoglioma syndrome. Several other family members became blind or showed signs of bone involvement. There was considerable consanguinity in the pedigree. The proband was small in size and had prominent skeletal deformities and clinical muscle weakness. These features were not present in her brother, suggesting clinical variability. Mental function was normal in both. Bone histology showed osteopenia. Several biochemical events of procollagen biosynthesis were analysed in fibroblast cultures, but no significant abnormalities compared to control fibroblast cultures were detected.

Blindness↗
PubMed1986

Cerebrospinal fluid lysozyme and beta 2-microglobulin in neurosarcoidosis.

The levels of lysozyme (LZM) and beta 2-microglobulin (beta 2m) were measured in the cerebrospinal fluid (CSF) and serum of 32 patients with sarcoidosis, 20 of whom had neurosarcoidosis. LZM was analyzed by a new radioimmunoassay (RIA) modification. CSF LZM was elevated in 15 of 20 patients with neurosarcoidosis but in only 4 of 12 patients with extraneural sarcoidosis. CSF beta 2m values were elevated in 13 of 19 and in one of 11 patients, respectively. In neurosarcoidosis, both CSF LZM and beta 2m correlated to CSF leucocytes but not significantly to CSF albumin thus suggesting that LZM and beta 2m were secreted from cells within the central nervous system (CNS). In patients with sarcoidosis, elevations of CSF LZM and beta 2m revealed disease activity in the CNS. Both analyses were also useful in the follow-up of neurosarcoidosis.

Adult↗