Biomedical subjects
Publications and source records attributed to J Zaremba.
A case of progressive multisystem damage to the central nervous system was observed in a patient aged 36 years. On the ground of family history, disease course, clinical findings and results of laboratory investigations type I of olivo-ponto-cerebellar atrophy according to McKusick's classification was suspected.
The properties and metabolic functions of peroxisomes are discussed. Classification and clinical symptoms of various diseases resulting from deficiencies of those organellae are presented. Most of the diseases involve the nervous system. The detection and determination of long-chain fatty acids (containing over 26 carbon atoms) is the principal diagnostic method in peroxisomal diseases.
A case of L-mannosidosis, a recessively inherited thesaurosis, is reported. Since birth the patient had evidence of immunodeficiency. The neurological manifestations developed during adolescence with slurred and slow speech with scanning, muscle flaccidity, sings of Trömner and Jacobson, intentional tremor, equilibrium disturbances. After many laboratory investigations the tests for inherited metabolic disorders made the correct diagnosis possible.
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Because of a need to correlate pulmonary microvascular changes with physiologic data during lung injury, in vitro and in vivo pulmonary capillary microangiography was performed on normal dogs and those subjected to oleic acid injury and glass bead microembolization. During these studies, no significant differences were found between microangiograms obtained after in vitro and in vivo perfusion techniques. This work therefore suggests that in vitro microangiography yields reliable morphologic information more conveniently than more expensive and difficult in vivo techniques. In vitro pulmonary capillary microangiography can provide reliable structural information which can be correlated with physiologic data.
DNA was isolated and analysed in 96 patients with Duchenne or Becker muscular dystrophy (DMD, BMD); 9 of them were affected with BMD. Delections were found in 60 Patients (62.5%) using six cDNA probes. In some cases the PCR technique was also applied. In patients with BMD all deletions but one were in frame and involved exons 45-54. On the contrary, most deletions in DMD were out of frame and varied in their location. In five families prenatal diagnosis was carried out.
During the last 12 years 4258 amniocenteses were performed between the 12th and 20th week of gestation (including 323 early amniocenteses carried out before 15th week). In every case, cytogenetical examination was performed and concentration of AFP was determined. In cases with elevated AFP level electrophoresis of AchE izoenzymes was performed. The results of the tests enabled us to calculate laboratory standard values of AFP in the amniotic fluid for 12th to 20th weeks of gestation. In 22 of 44 pregnancies with Down's syndrome the value of AFP concentration was below the 25th percentile of the laboratory normal value. In 5 of 10 pregnancies with Edward's syndrome AFP level exceeded significantly the 75th percentile of the laboratory norm. In two cases it was due to coexisting spina bifida and in one case due to omphalocele. In 28 amniotic fluid samples AFP concentration exceeded normal level and electrophoresis of AchE revealed additional band. In 26 cases increased values of AFP were due to open neural tube defect in the fetus: 13 cases of anencephaly and 13 cases of spina bifida; in the remaining two other cases omphalocele was found.
RFLP polymorphism and the sequence of repeated CA were analysed by means of polymerase chain reaction in 62 families in which cases of DMD/BMD had occurred. The established carriers were suggested to undergo prenatal examinations for avoiding giving birth to a child with Duchenne or Becker type of muscular dystrophy.
Studies on the mutation 563T and silent mutation 1311T of the glucose-6-phosphate dehydrogenase (G6PD) gene in Poland were performed in 26 families affected with G6PD deficiency classified-according to WHO-as group 2 G6PD deficiency. Both mutations were found in 19 families, including 17 of Polish origin. Mutation 563T alone was found in 1 Greek female. The frequency of the silent mutation 1311T in Polish unaffected controls was 0.10. It is postulated that at least parts of the Polish (or Middle-Eastern European) and Mediterranean populations are of a common origin.