Biomedical subjects
Publications and source records attributed to A Tóth.
The occurrence of endometriosis in streak gonad syndrome is extremely rare and to our knowledge, our patient is only the 4th case reported so far. Since hormonal replacement is important for patients with ovarian failure, the surgical approach is suggested as the treatment of choice for endometriosis in streak gonad syndrome.
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The isolation and structural elucidation of some products of hydrolytic studies with two drugs, Chinoin-102 and Chinoin-127, are described. CH-127 is 1,6(ax)-dimethyl-4-oxo-1,6,7,8,9,9a-hexahydro-4H-pyrido-[1,2-a]-pyrimidine-3-carboxamide. CH-102 is 8,9-dimethoxy-3-imino-5,6-dihydro-3H-thiazolo-[4,3-a]-isoquinoline-1-carbonitrile. Degradation of the active compounds was studied by hydrolysing them in acidic, neutral and alkaline media. The isolated degradation products were identified by MS and IR techniques. The products identified were: for CH-127, 1,6-dimethyl-4-oxo-1,6,7,8-tetrahydro-4H-pyrido-[1,2-a]-pyrimidin-3-carboxamide; for CH-102, acid amide and acid derivatives. For the selective determination of the drugs and their degradation products, UV spectrophotometric and densitometric methods were applied.
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97 symptom-free asthmatics, 56 patients with chronic bronchitis and 32 healthy persons were challenged by inhalation of ultrasonically nebulised hypertonic KCl solution. 24 patients out of the group of asthmatics were challenged also by the inhalation of distilled water to compare its bronchial effect and diagnostic value in bronchial asthma with those of hypertonic (10%) KCl solution. KCl solution caused positive bronchial reaction in each patient with asthma after less than 100 inhalations. The increase of airway resistance (Raw) showed a dose dependence in contrary to bronchitics and healthy persons who failed to show any positive bronchial reaction in any of the cases. Distilled water induced a much lower increase in Raw than 10% KCl solution in the same doses inhaled in each patient with asthma, i.e. more inhalations (longer time) were needed to reach a positive bronchial reaction. The bronchial sensitivity against KCl solution and distilled water did not show clear-out parallelism. The results suggest that the positivity of challenge test performed by the inhalation of hypertonic KCl solution - similarly to that of distilled water (published by others) - seems to be specific for asthma. Challenge test performed with 10% solution has advantages relative to that performed by distilled water, primarily because of the non negligible proportion of false negativity of the latter in the group of asthmatics.
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This paper presents a female patient with a clinical picture of gonadal dysgenesis and the chromosome constitution with a monocentric isochromosome of one X and a marker chromosome 21 with deleted short arm. The proband's father and other members of the family suffered from Huntington's chorea and each of them possessed the deleted chromosome 21. Our case supports the idea that minor chromosome aberrations may increase the inclination for the development of unbalanced recombinant offsprings.
Cytogenetic studies were carried out on 118 couples with recurrent spontaneous abortions. Four major chromosomal abnormalities were found including two 13/14 Robertsonian translocations, one t(7;12) and one t(1;10) reciprocal translocation. The incidence of chromosomal abnormalities in this study was 3.39%, which is lower than the mean value of the published data. The clinical significance of balanced translocations in recurrent reproductive loss is discussed.
A case of 44,X streak gonad syndrome combined with familial balanced 13/14 translocation is described. To our knowledge this is the second report on the combination of X monosomy and autosomal translocation. There was no convincing evidence of an interchromosomal effect in the present case.
Cytogenetic investigation of a healthy couple with 4 spontaneous abortions revealed a pericentric inversion of the Y chromosome. The same abnormality was found in three other members of the family. All of them have normal children without fetal wastage. This finding suggests that the pericentric inversion of the Y chromosome affects neither the phenotype nor reproductive performance.
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