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Biomedical subjects

H Somer

Publications and source records attributed to H Somer.

123 records · Page 7Linked to original sources

Specificity of serum creatine kinase isoenzymes in diagnosis of acute myocardial infarction.

A study of the diagnostic value of serum creatine kinase (CK) isoenzymes showed that MB isoenzyme, which characterizes heart tissue, was a specific and sensitive indicator of acute myocardial infarction. In cases where the clinical picture was complicated by ventricular tachycardia, severe congestive failure, shock, or resuscitation procedures heart, liver, and muscle enzymes were increased. There was also an increase in lactate dehydrogenase isoenzyme values in these cases; indeed, the only enzyme test that correlated well with electrocardiographic and necropsy findings was the MB isoenzyme.

Aged↗

Ocular findings in muscle-eye-brain (MEB) disease: a follow-up study.

We present ocular findings of 20 patients with the recessively inherited muscle-eye-brain (MEB) disease, characterised by severe visual failure, mental retardation, a pachygyria-polymicrogyria type neuronal migration disorder and congenital muscular dystrophy. The ocular findings consisted of myopia ranging from -6 to -27 D, retinal degeneration and optic atrophy. Five infants had congenital glaucoma, and juvenile cataracts developed in 9 children. The visual evoked potentials were abnormally high (> 50 microV) and delayed in 70% of patients. The electroretinogram was abolished in 12 patients. The changes were progressive during the follow-up time, which was up to 20 years.

Adolescent↗

Hypodense white matter lesions in computed tomography of neurosarcoidosis.

Cerebral CT was performed on 32 patients with neurosarcoidosis and found to be abnormal in 13 (41%). One of the most common abnormalities (five patients) was represented by low density white matter lesions, which have not, to the best of our knowledge, been previously reported in association with neurosarcoidosis. Other types of abnormalities were ventricular enlargement (five patients) and mass lesions (four patients). Nineteen of the 32 patients had normal CT findings; thus normal CT does not exclude neurosarcoidosis. Nine magnetic resonance examinations carried out in seven patients failed to reveal more lesions than CT.

Adult↗

Linkage analyses in tibial muscular dystrophy.

Tibial muscular dystrophy (TMD) is a recently described muscular disease first discovered in a highly consanguineous family in Finland. The pedigree also included patients whose symptoms resembled another phenotype, classical limb-girdle muscular dystrophy. Extensive linkage analysis was carried out in this complex pedigree using 157 highly polymorphic DNA markers. Because of the presence of two phenotypes, several inheritance models were used in linkage analysis studies to allow for the possibility of intrafamilial heterogeneity. The results summarize information from over 10,000 genotypings and exclude several known loci for muscular dystrophies. The findings suggest that TMD may be caused by a mutation in a previously unknown locus for muscular dystrophy.

Female↗