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Biomedical subjects

S Srsen

Publications and source records attributed to S Srsen.

At least 19 recordsLinked to original sources
PubMed1991

Stable isotope dilution analysis of N-acetylaspartic acid in CSF, blood, urine and amniotic fluid: accurate postnatal diagnosis and the potential for prenatal diagnosis of Canavan disease.

A sensitive and selective analytical technique is described for the determination of N-acetylaspartic acid in body fluids using stable isotope dilution in combination with positive chemical ionization mass spectrometry with selected ion monitoring. Control mean and ranges have been established: in urine 19.5 and 6.6-35.4 mumol/mmol creat.; in plasma 0.44 and 0.17-0.81 mumol/L; in cerebrospinal fluid 1.51 and 0.25-2.83 mumol/L; and in amniotic fluid 1.27 and 0.30-2.55 mumol/L. In a patient with Canavan disease, N-acetylaspartic acid concentration was elevated 80-fold in urine and 20-fold in plasma compared to the control means. A subsequent pregnancy of the mother was monitored and the N-acetylaspartic acid concentration in the amniotic fluid was within the control range and a healthy child was born.

Amidohydrolases↗
PubMed1991

[Disorders of the cardiovascular system in congenital lentiginosis].

The authors investigated during the last 10 years four patients with lentiginosis and affection of the heart. In none of them the symptoms were complete enough to include it under the leopard syndrome. In two patients the authors found changes in the outflow portion of the right ventricle which was in their opinion caused by hypertrophy of the interventricular septum and musculature of the right ventricle. The authors consider the term lentiginocardiomyopathic syndrome suitable for this rare clinical and genetic entity. The authors check patients with lentiginocardiomyopathic syndrome regularly after 6-month intervals. In two children they recorded progression of the heart disease.

Adolescent↗
PubMed1989

[Chromosome aberrations in a group of mentally retarded persons].

Mental retardation (MR) is a frequent manifestation in patients referred to departments of medical genetics (OLG). At the OLG in Martin their number in the years 1981-1985 was 324, i.e. 21.22% of the total number of examined subjects. MR was found as one of the pathological symptoms (symptomatic MR) in 86.73% and as the only pathological manifestation (isolated MR) in 13.27%. Genetic factors were revealed in 59%, exogenous ones in 19%, and in 22% the aetiology was not unequivocally resolved. As to genetic factors, the most frequent cause were chromosomal aberrations (in 104 patients-53%), a monogenic character was found in 68 subjects (35%) and a multifactorial one in 24 (12%). As to chromosomal aberrations, in 102 cases autosomes were affected (91 times numerical and 11 times structural affection), in four subjects a numerical anomaly of genosomes was involved and once a combined aberration of an autosomal and gonosomal character. The authors give the character and number of different types of aberrations and the incidence of so-called chromosomal markers (12 cases) and they evaluate their causal relationship with MR. Further advances in the aetiological evaluation of genetic factors will be made possible by the introduction of strip methods with a high resolution technique (use of prophasic chromosomes), combined with hybridization in situ, cytogenetic methods for the detection of individuals with the fragile X-chromosome syndrome, and in particular the application of the technology of recombinant DNA for the diagnosis of clinical and genetic units at the gene level.

Chromosome Aberrations↗
PubMed1989

[Let us cure our planet!].

Ideas of the moral code of nuclear age selected from IPPNW sessions at the 8th World Congress (Montreal 1988) and the 4th Regional Rhineland Symposium (1988). The proclamation of these sessions was adopted also by the newly established Czechoslovak Medical Society for the prevention of nuclear war.

Nuclear Warfare↗
PubMed1979

Diagnosis of alkaptonuria in children.

Thirty-nine patiens with alkaptonuria diagnosed in childhood were studied with repeated detailed clinical and biochemical examinations. Darkening of the urine, although varying from time to time, was present in all. Pigmentary changes in axillary regions began to appear at 8--10 years with concomitant staining of underwear. Ear cartilage staining occurred in only 1, and none had scleral involvement or anthropathy. Dark brown to black staining of ear cerumen is present even in earliest childhood. This distinctive symptom in a child with no other ochronotic manifestations and even normal urine colour should alert one to possible alkaptonnuria. Other findings are described in detail.

Adolescent↗
PubMed1979

Alkaptonuria.

Alkaptonuria is found relatively frequently in Slovakia, Eastern Czechoslovakia (1 in 25,000 inhabitants). Reported herein are the clinical, radiographic, and biochemical aspects and genetics of 126 patients with alkaptonuria. Forty-seven were diagnosed in childhood; the sequential appearance of each manifestation is documented by decade. A simple screening method for this disorder is described. Pedigree analyses confirm recessive inheritance. Possible genetic and sociologic factors responsible for this high frequency of alkaptonuria are discussed.

Adolescent↗