[Supracondylar fracture of the humerus in childhood]. / Suprakondylická zlomenina humeru u detí.

INTRODUCTION: Supracondylar fracture of the humerus can be considered the most serious fracture in childhood. Problems with its diagnostics and treatment as well as its complications and sequels have not been fully solved yet. That is evidenced by a large amount of articles with frequently inconsistent conclusions. The aim is to evaluate contemporary diagnostic and therapeutic approach based on our own clinical experience. METHODS: A total of 2847 children with skeletal injury were treated by the authors during the year 2016. Two hundred and seventy-five of them suffered from supracondylar fracture of the humerus (9.66%). All the fractures were classified using the authors own scheme. Fragment displacement was evaluated according to a three-degree scale. RESULTS: Ninety-three of 275 supracondylar fractures were treated non-operatively (33.8%) and 182 by surgery (66.2%). Closed reduction and percutaneous pinning by K-wires under X-ray (C-arm) control was the method of choice. Crossed K-wires were used in 90% and in 9.9% two K-wires were inserted laterally only. In 70.9%, pins were buried and in 29.1 % unburied pins were used. Neurological lesions were noted in 13.5%. A total of 82.9% of children were healed without any sequels. CONCLUSION: Supracondylar fracture of the humerus in children should be managed in pediatric trauma centers, especially in more complicated cases. Fracture classification needs to be more detailed than those commonly used so far. Closed reduction and percutaneous pinning is the method of choice. Acute neurological and/or vascular complications can be managed in an overwhelming majority of cases, after fragment fixation, non-surgically.Key words: supracondylar fracture humerus, miniinvasive osteosynthesis neural lesion compartment syndrome.

Epidemiology of Multiple Myeloma in the Czech Republic.

BACKGROUND: Multiple myeloma (MM) is a cancer of plasma cells with an incidence of 4.8 cases per 100,000 population in the Czech Republic in 2014; the burden of MM in the Czech Republic is moderate when compared to other European countries. This work brings the latest information on MM epidemiology in the Czech population. MATERIAL AND METHODS: The Czech National Cancer Registry is the basic source of data for the population-based evaluation of MM epidemiology. This database also makes it possible to assess patient survival and to predict probable short-term as well as long-term trends in the treatment burden of the entire population. RESULTS: According to the latest Czech National Cancer Registry data, there were 504 new cases of MM and 376 deaths from MM in 2014. Since 2004, there has been a 26.9% increase in MM incidence and an 8.3% increase in MM mortality. In 2014, there were 1,982 persons living with MM or a history of MM, corresponding to a 74.4% increase when compared to MM prevalence in 2004. The 5-year survival of patients treated in the period 2010-2014 was nearly 40%. CONCLUSION: The available data make it possible to analyse long-term trends in MM epidemiology and to predict the future treatment burden as well as treatment results.Key words: multiple myeloma - epidemiology - Czech National Cancer Registry - Registry of Monoclonal Gammopathies - Czech Republic.

[Retrospective analysis of monochorionic twin pregnancies born in the Institute for the Care of Mother and Child between 2012-2015]. / Analýza prípadu monochoriálních dvojcat porozených v Ústavu pro péci o matku a díte ve ctyrletém období (2012-2015).

OBJECTIVE: The purpose of this study was to describe monochorionic twin pregnancies and their complications, born between 24th and 37th week of gestation in the Institute for the Care of Mother and Child in years 2012-2015. DESIGN: Retrospective cohort. SETTING: The Institute for the Care of Mother and Child, Praha. METHODS: From 2012 to 2015 we observed 177 monochorionic twin pregnancies from which two or one viable fetuses were born, or both fetuses died in utero. RESULTS: From a total of 177 women, 12 (6.8%) gave birth before 26th week of gestation, between 26+0 - 27+6 four women (2.3%) gave birth, 37 women (20.9%) between 28+0 - 31+6, 84 women (47.8%) between 32+0 - 35+6 and after 36th week of gestation 40 women (22.6%) gave birth. Mean week of delivery was 33.8. Indications for termination of pregnancies were premature rupture of membranes (PPROM) in 11.9%, onset of spontaneus uterine contractions in 12.4% and in 53.3% other iatrogenic indication. 23.3% of pregnancies in our cohort were uncomplicated and terminated after 36th week of gestation. We performed caesarean section in 94.3%, in 5.7% patients gave birth vaginally. In vitro fertilization had 19.9% women, 80.1% conceived spontaneously. The age range of pregnant women in our cohort was 20-43, with median 32.3. Mean weight of bigger fetus was 2047.6 g (min. 520 g, max. 3530 g), mean weight of smaller fetus was 1799.5 g (min. 350 g, max. 2790 g). In 30 cases (16. 9%) we performed intrauterine intervetion. In 21/30 cases (11.9%) for TTTS diagnose, in 5/30 cases (2.8%) for congenital abnormalities or TRAP sequence and in 4/30 cases (2.2%) for sIUGR type III. The most frequent complication in our cohort was sIUGR (36 patients - 20.3%), TTTS (21 patients - 11.9%) and on the third place congenital abnormality or TRAP sequence (five patients - 2.8%) Nineteen patients gave birth to one viable fetus, in two cases both fetuses died in utero. In one case, in twin pair, one new-born died shortly after the birth - it had several congenital abnormalities and due to anhydramnion it was impossible to perform amnioinfusion and umbilical cord occlusion. After the birth it was given palliative care. CONCLUSION: The study brought data about specific risks in monochorionic twin pregnancies and suggests careful observation of women in fixed intervals and necessity of immediate referral to perinatal centre in case of any suspicious or pathological finding.

Patterns of deletions and the distribution of breakpoints in the dystrophin gene in Czech patients with Duchenne and Becker muscular dystrophy (statistical comparison with results from several other countries).

Deletion pattern analysis of the dystrophin gene was performed in 115 unrelated Czech patients with Duchenne and Becker muscular dystrophy. In 50 patients (43.5% of the analysed patients) exon deletions were detected by routinely performed multiplex PCR for 18 selected exons and for the area of musclespecific promoter of the dystrophin gene. All startpoints and endpoints of deletions (100 breakpoints) were detected using PCRs for another 29 exon areas of the dystrophin gene (altogether primers for 47 different exons were used). Most of the breakpoints were found in introns 44 (16% of breakpoints), 47 (14%) and 50 (8%). The comparison of distributions of breakpoints in the area of the main hot spot of the dystrophin gene (introns 43-52) was made (chi 2 test in a contingency table) in six different populations from the Czech Republic, Bulgaria, Hungary, Italy, Turkey and India. In compared populations, statistically significant differences were found by the pooled test. No significant difference between the Czech population and other studied populations was found by pair comparisons. On the other hand, pair comparisons revealed significant differences between populations from Bulgaria and Hungary, Bulgaria and Turkey, Hungary and Italy. The results of the presented study support the theory suggested by other authors that specific differences in intron sequences of the dystrophin gene can exist between different populations, possibly as a result of a genetic drift.

[Biochemical screening in the second trimester of pregnancy from a genetic aspect]. / Biochemický screening tehotných zen v II. trimestru z genetického hlediska.

OBJECTIVE: Evaluation of the efficiency of detection of inborn chromosomal aberrations by biochemical screening of pregnant women. DESIGN: Summary of 9-years study by karyotyping of amniocytes of pregnant women, when pathological levels of AFP, hCG, uE3 were detected. Ethical problems of genetic counselling of pregnant women. SETTING: Department of Medical Genetics FTN, Chair of Medical Genetics IPVZ, Prague 4. METHODS: Biochemical screening of pregnant women in II. trimester of pregnancy by Triple Test and computer programme Prenatal Software 1.2.K, cytogenetical examination of amniocytes from amniotic fluid after amniocentesis in II. trimester. RESULTS: Among 6,471 pregnant women tested by Triple Test 20% had abnormal levels of test. In 1.5% of them an abnormal fetal karyotype was detected. Only 1/3 of them were Down Syndromes, we found also other types of aberrations. During ethically suitable counselling only 2/3 of pregnant women decided to terminate the pregnancy. CONCLUSION: Biochemical screening of pregnant women in II. trimester is very important help for detection of inborn chromosomal aberrations. The women must be informed by suitable ethical approach.

Genetic aetiology of reproductive failures.

The percentage of couples who have problems with reproduction is growing in industrialised nations. Clear genetic aetiology of reproductive failures can be discovered in at least one-sixth of them. All these couples should undergo a comprehensive genetic examination including karyotyping of both partners. Results were obtained over a period of 12 years (1985-97) when studying couples with reproductive failures by taking their detailed family histories and by cytogenetic analysis of their karyotypes. The study subjects were 410 couples (i.e. 820 persons) with different types of reproductive failure from Prague and its surroundings. In 3.16%, one member had an aberration of autosomes and, in 4.38%, one member had an aberration of sex chromosomes. Of these 7.3% had, besides infertility and/or repeated spontaneous abortions, the birth of a child with a polygenic congenital malformation. A detailed genetic investigation of couples with reproductive failures should not be neglected when trying to find the best treatment.

[Ethical and psychological problems of infertile couples in genetic counseling]. / Etické a psychologické problémy infertilních páru v genetickém poradenství.

Study of attitudes and psychological opinions of infertile couples by anonymous questionnaires (answered separately by men and women), including 8 questions an supplement by 2 pages of explaining text. The questionnaires were sent to 140 couples (280 persons), 37 couples answered (74 persons). The majority of these couples prefer assisted reproduction to adoption and they accept all varieties of these techniques. When donors are used, these couples wish to keep complete anonymity. They are prepared to pay for these procedures, even though they would prefer the opposite. The opinions of men and women did not differ greatly. However, the majority of men prefer choice of the baby's sex. This is not allowed in our and other European countries by law (with exception of families with X-linked genetic diseases).

Description and prediction of retention in normal-phase high-performance liquid chromatography with binary and ternary mobile phase.

The suitabilities of several earlier reported models for description and prediction of retention in normal-phase systems with mobile phases comprised of two organic solvents-a polar and a non-polar one-were tested on the chromatographic behaviour of phenylurea herbicides and alkyl-, aryl- and nitrophenols as sample solutes with a silica-gel column and 2-propanol, n-heptane and dioxane as mobile phase components. With few exceptions, the data obtained from the best-fit three-parameter retention equation differ from the experimental capacity factors at less than 0.1, or 2%, and for most compounds the fit is better than 1%. Of the two two-parameter equations derived from theoretical models, one failed to describe the retention behaviour. The fit of the other two-parameter equation to the retention data of phenols is slightly inferior than with the three-parameter equation. The differences between the fitted data and the experimental capacity factors of substituted phenylureas were < or = 0.2, or 5%. Three-parameter equations were suggested to describe the retention behaviour in three-component mobile phases either at a constant sum or at a constant ratio of the two stronger solvents in ternary mobile phases. To fit the three-component data at any combination of concentrations of the three solvents with the error comparable to that in binary mobile phases, a nine-parameter equation is necessary. Suitability of these equations to describe the experimental behaviour of substituted phenylureas and phenols was verified in ternary mobile phases with various concentrations of 2-propanol, dioxane and n-heptane. Finally, a method was suggested for the prediction of retention in ternary mobile phases with varying concentration ratios of the two polar solvents from the parameters of best-fit equations in binary mobile phases and a single experimental capacity factor in a ternary mobile phase. For most capacity factors, the error of prediction was lower than 0.2, or 5%. Dried solvents were used to improve the reproducibility of the results and the temperature was controlled to +/-0.1 degree C in all experiments. With these precautions, differences between the original retention volumes and the data from repeated experiments measured after ten months of use of the column in the system tested were less than 0.2 ml for 85% of the values compared.

[An overview of the development of pharmacy education in Slovakia]. / Prehl'ad vývoja farmaceutického vzdelania a stúdia na Slovensku.

Before 1777, the pharmacist in Slovakia gained their professional qualification by practising in a pharmacy. From the establishment of the University of Trnava to 1777, they attended lectures and took examinations at its Faculty of Medicine, then from 1784 onwards in Budapest. After the establishment of Czechoslovakia, the candidates of pharmacy studied in Prague, and after the closing of Czech universities (1939) in Bratislava. Between 1940 and 1948 there existed a three-year course, and later a four-year course at the Faculty of Medicine, the contents of which were close to the level of the development of sciences and the requirements of pharmaceutical practice. A logical completion of the development of the course of studies was the establishment of independent Faculties of Pharmacy in Bratislava and Brno and the prolongation of the course to five years. Commencing with the academic year 1977/78, the course of studies was divided into three specializations, General Pharmacy, Clinical Pharmacy and Technological Pharmacy. Since the academic year 1990/91 the course is uniform again, with possible differentiations in the profile of the graduate during the course according to the interests and options of the student.

Influence of different occupations with possible mutagenic effects on reproduction and level of induced chromosomal aberrations in peripheral blood.

In a group of 200 dysfertile couples (400 persons), the possible role of different occupations in failures of reproduction was assessed. These couples were examined from different points of view, classical genetic examination (pedigree, kayrotype, etc.) included. The suspected genotoxic effects in the personal history were checked also by testing the level of induced chromosomal aberrations. A significantly increased level of induced chromosomal aberrations was detected in 37 persons, i.e., 9.3% of the whole group under study. The average level of induced aberration in these subjects was 6.8%, as opposed to the control group (fertile and dysfertile persons without any unusual exposure to mutagens) with a mean of 1.58% aberrant cells in peripheral blood. Most of the occupations with demonstrated genotoxic effects involve daily contact with chemicals of different types. In some persons also intensive therapy in the recent past had genotoxic effects.

Clinical and molecular problems of polycystic kidney disease.

Using nephrological, genealogical and molecular genetic methods, the authors examined 85 members of 19 families with autosomal dominant polycystic kidney disease. With the aid of probe 3'HVR, alpha-globin and restriction endonuclease Pvu II, the families were found 95% informative. The rate of diagnostic reliability was also 95%. The authors verified the homogeneity of the disease in the Czech population and the applicability of the probe and endonuclease for molecular gene diagnostics in the population.

[Clinical and molecular problems in polycystic kidneys]. / Klinická a molekulární problematika polycystických ledvin.

The authors examined, using nephrological, genealogical and molecular genetic methods, 85 subjects from 19 families with autosomal dominant heredity of polycystic kidney disease. Using the probe 3HVR alpha-globin and restriction endonuclease Pvu II, the authors assessed 95% informative families in the given group and the reliability of the diagnosis was also 95%. The authors tested the homogeneity of the disease in the Czech population and the applicability of the mentioned probe and endonuclease for molecular genetic testing of our population.