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Biomedical subjects

J Cervenka

Publications and source records attributed to J Cervenka.

At least 19 recordsLinked to original sources

Interstitial deletion of 10q: clinical features and literature review.

We report on a patient with interstitial deletion of 10q and compare her to 8 previously described patients, 2 of whom have chromosomal breakpoints similar to our patient. Minor anomalies including broad forehead, hypertelorism, strabismus, prominent philtrum, and "dysplastic" pinnae are present in our patient. Psychomotor retardation and hypotonia are universal findings in 10q interstitial deletion. Growth retardation, not present in our patient, is seen in some. These clinical findings are sufficiently distinct to suggest early chromosome studies.

Chromosome Aberrations

[How to kill your own lecture].

The author draws attention (in a satirical way) to some of the most frequent mistakes in verbal presentations of results of research. Special attention is devoted to the environment where the lecture is given, to figures, tables and the use of the microphone.

Communication

[Retrospective epidemiologic analysis of the occurrence of measles in Slovakia].

The authors give a detailed account of the reported measles morbidity in Slovakia during the past 50 years (almost half a million notified cases). Before vaccination on a mass scale was introduced, some 1% of the notified cases died. The most frequent cause of death was pneumonia, followed by encephalitis. Since 1977 there was not a single death from measles. Before vaccination was introduced preschool children were affected most badly by the morbidity. After introduction of vaccination on a mass scale a systematic shift of the morbidity to older age groups was observed. The morbidity trend from measles tends at present towards zero and is usually interrupted by imported cases from endemic areas or minor epidemics which developed from these imported cases. Systematic vaccination with an effective vaccine leads to elimination of measles as a disease with a mass incidence. Vaccination on a mass scale logically has an impact on the incidence of complications, acute as well as late ones.

Adolescent

[Epidemiologic analysis of the report "Non-specific intestinal diseases" (Slovakia 1975-1989)].

The authors submit an analysis of the notified morbidity, the number of deaths and work incapacity on account of "non-specified intestinal diseases" ("009") in Slovakia in 1975-1989. They focus attention on the age distribution and seasonal incidence of these diseases. During the investigation period 27,075 cases were reported and the morbidity has a rising trend. The most severely affected age group are infants where the death rate is highest. The authors found a marked disproportion between the number of notified diseases and the work incapacity on account of "009", which accounts for 2/3 of all work incapacities on account of intestinal infections.

Adolescent

Acrocentric prophasing in bromodeoxyuridine-incorporated chromosomes.

Chromosomes that appear to be incompletely condensed [pulverized, prematurely condensed chromosomes (PCCs), prophasing] are known to occur in metaphase spreads of cells from normal individuals and more frequently in cells from individuals with malignant disease or in cells exposed in vitro or in vivo to various agents such as viruses, chemicals, and radiation. In this study involving bromodeoxyuridine (BrdU)-treated lymphocytes, a selective prophasing of acrocentrics appeared to be occurring. The acrocentrics involved were generally in interconnected groups.

Bromodeoxyuridine

Effect of sodium fluoride on growth of human diploid cells in culture.

Cytotoxicity of sodium fluoride (NaF) on human diploid cells in exponential growth was investigated using a) Flow 1000 cells, passage No. 13, obtained from skin and muscle tissues of male black foetus, b) IMR-90 cells, passage No. 22, derived from lung tissue of female Caucasian foetus and c) primary fibroblast-like cell cultures from 5 Japanese whole foetuses. Diploid cells did not survive at 20 p.p.m. of ionic fluoride (F-) concentration. However, the cells were capable of proliferation with no significant impairment of growth up to 0.2 p.p.m. F-, a level which is much higher than the plasma concentration in human subjects from areas with highly fluoridated water. The growth of the cells was markedly affected by F- concentrations greater than 2 p.p.m.

Aneuploidy

[Epidemiologic aspects of the spread of HIV in Czechoslovakia].

The author evaluates the present favourable epidemiological situation as regards AIDS in Czechoslovakia. He submits some suggestions for discussion and practice AIDS--control for epidemiologists as well as doctors of other medical disciplines: routine examination of anti-HIV in the population, "denominator" data (numbers and estimates, resp.) of different population groups at increased risk, notification of homosexuals, prevention of HIV infection by means of condoms, psychological problems of affected, public opinion.

AIDS Serodiagnosis

Hybridization frequencies of different mammalian cell types by electrofusion.

The efficiency of electrofusion of four types of cells: CHO, HeLa, mouse melanoma cells and human skin fibroblasts has been studied. The frequencies of fusion products were determined 1) directly in a closed flow-through fusion chamber after dielectrophoresis and pulsation; 2) after short-term postfusion cultivation period of 5 to 10 minutes; and 3) in various intervals up to 30 hours after fusion induction. No substantial differences were found in the rates of formation of heterokaryons and synkaryons between the individual cell types, and this confirmed the uniformity of the effects of electric fields on diverse cell membranes. After 5 hours of culture the yield of fusion products reached 15 to 35% in various cell combinations and the frequencies of synkaryons reached up to 7% in almost all the combinations studied 24 to 30 hours after fusion.

Animals

[Bronchial reactivity in patients with nasal polyps].

Nasal polyposis is in 25-70% complicated by the development of bronchial asthma, its attribute being bronchial hyperreactivity (BH). The authors examined 101 patients (23 with polyps and asthma, 53 with polyps and 35 controls) using the standard bronchoconstriction test as described by Cockroft and Vondra). By inhalation of increasing concentrations of histamine solutions the provoking concentration, PC20, was assessed. In the group with polyps and asthma 56% patients suffered from spontaneous bronchial obstruction and 44% from high and medium BH (PC20 less than 1.0 mg/ml). In patients with nasal polyposis alone in 21% spontaneous obstruction was found or a high BH, similarly as in the group suffering from asthma (PC20 less than 0.5 mg/ml). A medium BH was recorded in 23% and a mild BH in 26% (PC20 less than 1-2 mg/ml). 30% of patients with polyps are normoreactive (PC20 greater than 2 mg/ml). In the control group all patients were normoreactive. Patients with polyps and a high or medium BH are a risk group (44% of patients) threatened by the development of asthma. They call for longitudinal follow up of the BH and frequent check-up examinations by an ENT specialist and allergologist. Many years' verification of this hypothesis and evaluation of other risk factors is necessary for a more detailed analysis of the risk group of patients with polyps.

Bronchial Provocation Tests

Human genotoxicity: pesticide applicators and phosphine.

Fumigant applicators who, 6 weeks to 3 months earlier, were exposed to phosphine, a common grain fumigant, or to phosphine and other pesticides had significantly increased stable chromosome rearrangements, primarily translocations in G-banded lymphocytes. Less stable aberrations including chromatid deletions and gaps were significantly increased only during the application season, but not at this later time point. During fumigant application, measured exposure to phosphine exceeds accepted national standards. Because phosphine is also used as a dopant in the microchip industry and is generated in waste treatment, the possibility of more widespread exposure and long-term health sequelae must be considered.

Chromosome Aberrations

A severe autosomal recessive acromesomelic dysplasia, the Hunter-Thompson type, and comparison with the Grebe type.

Two siblings with a short-limb dwarfing condition which we call acromesomelic dysplasia, Hunter-Thompson type are reported. Abnormalities are limited to the limbs and limb joints in this severe form of dwarfism. The middle and distal segments of the limbs are most affected. The lower limbs are more affected than the upper. We are aware of one previously published case of this entity reported by A. G. W. Hunter and M. W. Thompson in 1976. Dislocations of the elbows and ankles were present in all three patients and dislocations of the hips and knees in two. One of the siblings who did not have hip and knee dislocations clinically resembled Grebe chondrodysplasia, another severe acromesomelic dwarfing condition. However, radiological analysis suggests that while acromesomelic dysplasia, Hunter-Thompson type and Grebe chondrodysplasia are related, they are not identical. Grebe chondrodysplasia has been established as an autosomal recessive trait. It appears probable that the entity we describe has the same mode of genetic transmission.

Adolescent

Fosenopril, an angiotensin-converting enzyme inhibitor, and propranolol: comparative effects at rest and exercise on blood pressure, hormonal variables, and plasma potassium in essential hypertension.

Fosenopril sodium, a prodrug, is converted to its active diacid during and after intestinal absorption. Its excretion is equally divided between hepatic and renal routes. This placebo-controlled, randomized, double-blind, parallel group study evaluated the efficacy and safety of fosenopril compared to propranolol, at rest and during exercise, on blood pressure, plasma potassium, plasma renin activity, and plasma aldosterone. Exercise testing utilized bicycle ergometry, and individual subjects underwent an identical exercise protocol on placebo and on active treatment. The fosenopril group comprised nine subjects who were matched to nine subjects on propranolol. Blood pressure fell significantly and equally at rest (fosenopril--157/103 to 141/95 mmHg, p less than 0.005; propranolol--159/100 to 149/90 mmHg p less than 0.005) and during exercise in both groups. Plasma potassium fell significantly at rest (4.25 to 3.98 mmol/l, p less than 0.05) and during exercise (5.18 to 4.87 mmol/l, p less than 0.05) on fosenopril, but rose in subjects on propranolol during exercise (4.99 to 5.44 mmol/l, p less than 0.01). Plasma renin activity rose on fosenopril and fell on propranolol. Plasma aldosterone was uninfluenced by either drug. Fosenopril was well tolerated and its antihypertensive profile is similar to that of beta blockers and other ACE inhibitors.

Aldosterone

Prepubertal diagnosis of Klinefelter syndrome in a patient with taurodontic teeth.

A 9-year, 10-month-old male presented for dental treatment planning for multiple missing permanent teeth. Panoramic radiographs revealed taurodontic permanent first molars and primary second molars. The patient was of slim build with a long lower body and moderately long fingers. Because of the presence of taurodontic teeth, chromosomal analysis was done and revealed 47,XXY - Klinefelter syndrome. Patients with meso- or hypertaurodontic teeth who do not have a syndrome known to be associated with taurodontic teeth should be considered for chromosome analysis because of the high association of taurodontic teeth with X-chromosome aneuploidy syndromes.

Anodontia