Czech Families Research Articles

Dental abnormalities observed in the oculo-facio-cardio-dental (OFCD) syndrome present in two Czech families bearing novel de novo BCOR pathogenic variants

BackgroundThe oculo-facio-cardio-dental syndrome (OFCD) is an ultra-rare multiple congenital anomaly. This report describes clinical findings emphasising dental phenotype in five, molecularly confirmed, female cases from two Czech families.Case presentationDental examinations were carried out. An orthopantomogram was taken in three patients, and all patients’ intraoral cavities and teeth were photographed. Exome sequencing was performed in both probands. Results were validated by Sanger DNA sequencing which was also used to follow segregation of the variants in first-degree relatives. Dental abnormalities and congenital cataracts were present in all five cases, whilst other signs were variable and included facial dysmorphism, microphthalmia, and cardiac and skeletal abnormalities. Two individuals had cleft lip and/or cleft palate. Radiculomegaly occurred in three patients with permanent teeth and was diagnosed on orthopantomograms. Two patients had agenesis of permanent teeth. Malocclusion was also present in two patients due to crowding and a Class III malocclusion and mandibular overjet. De novo novel pathogenic variants in the BCOR gene were identified; c.2382del p.(Lys795Argfs*12) and c.3914dup p.(Gln1306Alafs*20) and co-segregated with the disease in each family.ConclusionsThe OFCD syndrome has a unique dental phenotype and dentists should be aware of signs of this ultra-rare genetic disorder. All patients with congenital cataracts and dental abnormalities, including those without a family history, should be referred for genetic testing and indicated to specialised dental care.

Accelerometer-measured sleep behaviour and parent-child sleep guideline adherence and sleep quality in Czech families with children aged 3-8 years: the FAMIly Physical Activity, Sedentary behaviour and Sleep (FAMIPASS) study.

Assessing parent-child relationship in sleep behaviours is important for facilitating changes in the sleep guideline compliance in preschool age children. The aim of this study was to examine accelerometer-measured sleep quantity and quality in families with children aged 3-8 years and investigate the parents' influence on the child's sleep. The data were obtained from the Czech cross-sectional FAMIly Physical Activity, Sedentary behaviour and Sleep (FAMIPASS) study, with a final sample of 374 families. Families were recruited through the enrolment of their children in kindergartens/primary schools between March 2022 and May 2023. The sleep time window and total sleep time were assessed using a wrist-worn ActiGraph accelerometer. Participants wore this device continuously for 24 h/day over a period of 7 consecutive days. Demographic data and potential correlates were obtained via questionnaires completed by parents. Statistical analyses were completed using logistic regression and independent-samples Mann-Whitney U test. In all, 65.5% of children (60% boys, 70.9% girls) and 58.3% of parents (52.4% fathers, 64.3% mothers) achieved the recommended sleep duration. Greater sleep quantity and duration in good-quality sleep were significantly higher in girls/mothers, compared to boys/fathers. Preschoolers were more likely to comply with sleep guidelines if their mother (but not father) met the sleep recommendation and their mothers did not have a higher education level. Adhering to sleep guidelines in children was also associated with children's female gender, absence of screen device in the bedroom, and being more active. Given the high concurrence in mother-child sleep quantity, it is important to promote healthy sleep behaviours in the whole family.

Disease-Causing TIMP3 Variants and Deep Phenotyping of Two Czech Families with Sorsby Fundus Dystrophy Associated with Novel p.(Tyr152Cys) Mutation.

We aim to report the ocular phenotype and molecular genetic findings in two Czech families with Sorsby fundus dystrophy and to review all the reported TIMP3 pathogenic variants. Two probands with Sorsby fundus dystrophy and three first-degree relatives underwent ocular examination and retinal imaging, including optical coherence tomography angiography. The DNA of the first proband was screened using a targeted ocular gene panel, while, in the second proband, direct sequencing of the TIMP3 coding region was performed. Sanger sequencing was also used for segregation analysis within the families. All the previously reported TIMP3 variants were reviewed using the American College of Medical Genetics and the Association for Molecular Pathology interpretation framework. A novel heterozygous variant, c.455A>G p.(Tyr152Cys), in TIMP3 was identified in both families and potentially de novo in one. Optical coherence tomography angiography documented in one patient the development of a choroidal neovascular membrane at 54 years. Including this study, 23 heterozygous variants in TIMP3 have been reported as disease-causing. Application of gene-specific criteria denoted eleven variants as pathogenic, eleven as likely pathogenic, and one as a variant of unknown significance. Our study expands the spectrum of TIMP3 pathogenic variants and highlights the importance of optical coherence tomography angiography for early detection of choroidal neovascular membranes.

Cornea plana in a family from Pakistan: Case series and literature review on the principles of management.

Cornea plana (CP) is a rare ocular condition existing in two distinct clinical and hereditary forms: a milder, autosomal dominant type I and a more severe, autosomal recessive type II. The condition is more commonly found in Finnish, Saudi, and Czech families. We report three brothers from a consanguineous marriage that presented with complaints of decreased vision of varying degrees. All three of them have blue, thick, and hazy corneas with shallow anterior chamber depths. The additional features of CP type II were seen in the older two brothers including arcus lipoids, ill-demarcated limbus, and an accommodative squint. They were managed by the correction of refractive errors through spectacles and detailed counseling with follow-up visits to look for progressive complications. The management is mainly centered around optically or surgically correcting the developmental anomalies. This is complimented with proper genetic counseling and regular follow-up visits to look for and manage complications. There are, however, novel therapies that can be considered in these patients including corneal transplants or corneal stromal stem cellular therapies.

PRIMARY OPEN-ANGLE GLAUCOMA DUE TO MUTATIONS IN THE MYOC GENE.

Mutations in the myocilin gene (MYOC) cause trabecular dysfunction and thus are involved in the pathogenesis of primary open-angle glaucoma (POAG). The aim of this study was to characterize and describe the clinical findings in two Czech families with POAG due to pathogenic variants in the MYOC gene. Members of the two families affected by POAG underwent complete ophthalmological examination. In the proband from the first family, a direct sequencing of the three most frequent mutations in the MYOC gene was performed, and in the proband from the second family, an exome sequencing was performed. Other family members underwent targeted tests using direct sequencing. In total, 10 individuals diagnosed with POAG aged 20-70 years (mean 32.2 years, SD ±10,9 years) were examined. Eight of them showed advanced glaucomatous neuropathy with severe changes in the retinal nerve fiber layer. Clinical signs of POAG were present in six individuals in the third decade of life already; another four developed POAG during the fourth decade of life. Eight out of 10 patients had to undergo filtration surgery. Surgery was performed within 1 to 7 years of diagnosis, but mostly was performed within 2 years of glaucoma diagnosis. In the first family, MYOC variant c.1099G>A p.(Gly367Arg) was shown in the affected family members; in the second family MYOC variant c.1440C>A p.(Asn480Lys), both in heterozygous state. The changes were assessed as pathogenic. Our study is the first to describe mutations in the MYOC gene causing POAG in Czech patients. Genetic testing may be recommended for this diagnosis, especially in individuals with early presentation and a positive family history. Carriers of pathogenic variants of the MYOC gene have a lifetime risk of developing POAG of more than 50% and the course of their disease is often more aggressive, requiring surgical intervention to permanently control the intraocular pressure.

Preschool-aged children's agency in shared book reading: the relation to the literacy environment in Czech families

ABSTRACT This study explores children's agency in shared book reading sessions with parents and its relation to family literacy characteristics, parents' literacy practices with children and children's print knowledge. Research participants were 142 Czech children, ages 3–6, and their parents. Parents rated their children's agency and the attributes of the home literacy environment in a questionnaire. The data shows that children in the sample exerted agency in shared book reading situations, some of them extensively. Out of the four components of agency, children's manifestations of volition in shared book reading appeared to be the most extensive, followed by asking questions, imitating reading and monitoring parents when they were reading to them. Overall, the results indicate that literacy-aimed activities, which the parents carry out with their children, relate to children's agency more than literacy qualities of the home, like the number of children's books, children's exposure to literacy, or parental education.

Remote home-based education as a new phenomenon in the time of the covid-19 pandemic – the experience of Czech families

Abstract In March 2020 a state of emergency was declared in the Czech Republic in response to the COVID-19 pandemic, which that resulted in the closures of schools. The provision of education continued through mandatory remote home-based education. The aim of this study is to use in-depth interviews to show how Czech families with children at the primary levels of education have coped with this situation. Based on a qualitative analysis, it is possible to state that the families who participated in the research were coping well with the situation and had come up with effective arrangements both for providing education and for fulfilling other responsibilities. The research also revealed that many families consider this to be very demanding time. At the same time, we identified that the way how families tackled the situation of home-based education depended on several factors. The key role was played by the school factor, namely the quality of remote education offered by school and the communication between the school and the parents. The analysis showed that although the quality of communication and remote education offered by school improved between spring 2020 and autumn 2020, schools still have much room to improve the education provided.

MOTHERS AND FATHERS FACE TO FACE MEDIA EXPOSURE OF THEIR CHILDREN IN THE TIME OF LOCKDOWN IN THE CZECH REPUBLIC

Coronavirus has had a very significant impact on many areas of human life. The pandemic affected not only adults but also children. Children, who have been gradually moving into cyberspace in the last few years, are now much more supported in the use of the media, for example in the field of education (in the Czech Republic, virtually all schooling has moved to the Internet and television) and in leisure areas (some radio stations also responded to the lockdown). The paper focuses on mapping the attitudes and experiences of parents of children under 15 years of age to the use of media by their children during the lockdown in the Czech Republic and the differences in the attitudes of fathers and mothers. It presents the results of a study carried out in the form of a questionnaire during the first wave of the COVID-19 pandemic, when parents were unprepared for government action and shows, that women bore a greater part of the responsibility for parental support in the area of media use during the period of online learning in Czech families.

Long-QT founder variant T309I-Kv7.1 with dominant negative pattern may predispose delayed afterdepolarizations under \u03b2-adrenergic stimulation

The variant c.926C > T (p.T309I) in KCNQ1 gene was identified in 10 putatively unrelated Czech families with long QT syndrome (LQTS). Mutation carriers (24 heterozygous individuals) were more symptomatic compared to their non-affected relatives (17 individuals). The carriers showed a mild LQTS phenotype including a longer QTc interval at rest (466 ± 24 ms vs. 418 ± 20 ms) and after exercise (508 ± 32 ms vs. 417 ± 24 ms), 4 syncopes and 2 aborted cardiac arrests. The same haplotype associated with the c.926C > T variant was identified in all probands. Using the whole cell patch clamp technique and confocal microscopy, a complete loss of channel function was revealed in the homozygous setting, caused by an impaired channel trafficking. Dominant negativity with preserved reactivity to β-adrenergic stimulation was apparent in the heterozygous setting. In simulations on a human ventricular cell model, the dysfunction resulted in delayed afterdepolarizations (DADs) and premature action potentials under β-adrenergic stimulation that could be prevented by a slight inhibition of calcium current. We conclude that the KCNQ1 variant c.926C > T is the first identified LQTS-related founder mutation in Central Europe. The dominant negative channel dysfunction may lead to DADs under β-adrenergic stimulation. Inhibition of calcium current could be possible therapeutic strategy in LQTS1 patients refractory to β-blocker therapy.

Do Not Forget Me: Czech Settlers in Baldwin County, 1900-1940

Do Not Forget Me:Czech Settlers in Baldwin County, 1900-1940 Melda Boyd (bio) on february 5, 1922, an ad appeared in the czech-language farm journal Hospodář, published in Omaha, Nebraska (see Image 1). It was an invitation to immigrants from Czechoslovakia, living in the United States, to come to Baldwin County, Alabama, to begin a new life of prosperity. The ad read: Farms and lots in the beautiful Czech settlement of Silver Hill, Ala., Baldwin County, the best climate, healthy, clean water, good rainfall, certainty of two harvests per year, an exceptionally good area for farming, growing vegetables, fruit trees, dairy and poultry farming, good and inexpensive lots from 25 to 35 dollars per acre, good opportunity for poor people with little capital. No diseases, no mosquitos, no blacks. Very good markets for everything. Also seeking a Czech shopkeeper. The settlement has 74 families, a school and a communal building. Don't delay while you have the opportunity. Details available from A. Weselý, Silver Hill, Ala.1 The "communal building" shown in the ad is known today as the "Little Bohemian Hall," a historic structure now located in the heart [End Page 129] Click for larger view View full resolution Image 1. Ad in the Czech farm journal, Hospodář: "Communal building in the growing Czechoslovak settlement in Silver Hill." of Silverhill, Alabama.2 The photo most likely was taken in the early 1920s, when the building was located on Bohemian Hall Road and called the "Bohemian Hall"; the people standing outside the building are celebrating a wedding. This article will answer a number of questions related to the remarkable story of the Czech community reflected in this advertisement: Who built the Bohemian Hall? [End Page 130] Why did Czechs come to Alabama?3 How did they get there? What did they do when they arrived in Baldwin County? Using primary and secondary sources, oral histories, and personal papers, I hope to preserve the memory of Baldwin County's Czech colony. The title of this article comes from a piece of embroidery that hung over my aunt Lucille Mildorf Denham's bed. The piece is pale turquoise silk, stitched with small blue forget-me-nots and the legend, "Do not forget me." My grandmother, Helen Vandas Mildorf, the daughter of Czech immigrants and a farm wife who lived on the outskirts of Robertsdale, Alabama, embroidered the piece, but she could not finish it before her death in 1939 at the age of forty-eight. It is my hope that this article will help carry out my grandmother's wish that she and her family, and the other Czech families who settled in Baldwin County in the first third of the twentieth century, not be forgotten. Conventional wisdom among people who study Czech immigration suggests that there were no Czech settlements in Alabama. This belief likely originated with the assessment of Jan Habenicht, a Czech American who, by his own account, traveled the United States for more than twenty-five years, writing "hundreds and thousands of letters to old settlers and distinguished persons" and collecting "as much material as I could so that I might be able to save the memory of my compatriots of both good and ill will, because the Czech nationality in the United States after us will inevitably be deluged into the melting pot society."4 Habenicht's book, History of Czechs in America, provides a state-by-state assessment of the dispersion of Czech [End Page 131] communities throughout the United States and is a key text for those seeking to understand Czech immigration to America.5 Habenicht writes, of Alabama: "Czech Slavs made no colonies there, only a very small number of them have settled here and there."6 When Habenicht's book was first published in 1904, in Czech, his assessment was accurate; there were few Czechs in Alabama at that time. How few there were can be inferred by the fact that he notes that there were twenty-three Czech families in nearby New Orleans, Louisiana, a small number that, nevertheless, proved enough to attract specific notice.7 It appears that no community in Alabama had even that many Czechs by 1904...

Hereditary hyperferritinemia-cataract syndrome in three Czech families: molecular genetic testing and clinical implications

Hereditary hyperferritinemia-cataract syndrome (HHCS) is an autosomal dominant disorder manifesting with high serum ferritin levels and the formation of early-onset cataracts, with numerous small opacities, predominantly in the lens cortex. HHCS is caused by mutations in the iron-responsive element of the FTL gene. The aim of this study was to establish a molecular diagnosis in three Czech probands with suspected HHCS. A complex ocular and systemic evaluation, including ferritin and iron measurements, was performed. The 5' untranslated region of FTL was directly sequenced in all available family members, followed by paternity testing in one family. Three different FLT pathogenic variants (c.-161C>T, c.-167C>T, and c.-168G>C) present in the heterozygous state were detected in each of the 3 probands. Two segregated with the disease phenotype within the families, but c.-167C>T occurred de novo (confirmed by paternity testing). Prior to establishing molecular diagnosis, two probands were misdiagnosed with hemochromatosis. One individual, aged 43years, underwent phlebotomy; another, aged 8.5years, was treated with the iron chelator deferasirox, leading to life-threatening acute hyperammonemia, without severe liver injury. Lack of family history does not exclude HHCS, because the pathogenic variant can arise de novo. Noncoding regions are often omitted from diagnostic gene panels, thus evading detection. Careful clinical evaluations and targeted genetic screening are important for avoiding potentially harmful treatments.

Mandatory Home Education During the COVID-19 Lockdown in the Czech Republic: A Rapid Survey of 1st-9th Graders' Parents

Schools have been closed in many countries due to the on-going COVID-19 pandemic, but education continues online. Little is known about how parents cope with educating their children in this unprecedented situation. Here, we present the results of a rapid survey examining the experience of Czech parents of children in Grades 1-9 (Age ~ 6-15; N = 9,810) with respect to home education home during the COVID-19 lockdown. This survey was distributed widely, but only online and parents participated voluntarily. Mainly families with an internet connection and interested in their children’s education (i.e., the majority of families with school-aged children in the Czech Republic) took part in the survey. The results show that these families tend to cope well with the current educational situation and view the overall schoolwork transferred to homes as useful. Most children spend 2-4 hours a day studying, while parents help them at least half the time. Parents mostly explain task instructions, check the work their children have done, and teach new topics. To a lesser extent, they help their children solve tasks. Teachers appear to assign tasks more often than they provide feedback and/or interact with children. Some parents face difficulties, but those are generally not severe. These include, most notably, a lack of time, issues with technologies, and inadequate teaching skills and content knowledge. Altogether, this work maps the current educational situation in a large segment of Czech families and highlights possible pitfalls to be avoided: in the Czech Republic and beyond.

Functional Analyses of HNF1A-MODY Variants Refine the Interpretation of Identified Sequence Variants.

While rare variants of the hepatocyte nuclear factor-1 alpha (HNF1A) gene can cause maturity-onset diabetes of the young (HNF1A-MODY), other variants can be risk factors for the development of type 2 diabetes. As has been suggested by the American College of Medical Genetics (ACMG) guidelines for variant interpretation, functional studies provide strong evidence to classify a variant as pathogenic. We hypothesized that a functional evaluation can improve the interpretation of the HNF1A variants in our Czech MODY Registry. We studied 17 HNF1A variants that were identified in 48 individuals (33 female/15 male) from 20 Czech families with diabetes, using bioinformatics in silico tools and functional protein analyses (transactivation, protein expression, DNA binding, and nuclear localization). Of the 17 variants, 12 variants (p.Lys120Glu, p.Gln130Glu, p.Arg131Pro, p.Leu139Pro, p.Met154Ile, p.Gln170Ter, p.Glu187SerfsTer40, p.Phe215SerfsTer18, p.Gly253Arg, p.Leu383ArgfsTer3, p.Gly437Val, and p.Thr563HisfsTer85) exhibited significantly reduced transcriptional activity or DNA binding (< 40%) and were classified as (likely) pathogenic, 2/17 variants were (likely) benign and 3/17 remained of uncertain significance. Functional analyses allowed for the reclassification of 10/17 variants (59%). Diabetes treatment was improved in 20/29 (69%) carriers of (likely) pathogenic HNF1A variants. Functional evaluation of the HNF1A variants is necessary to better predict the pathogenic effects and to improve the diagnostic interpretation and treatment, particularly in cases where the cosegregation or family history data are not available or where the phenotype is more diverse and overlaps with other types of diabetes.

Phenotype Variability in Czech Patients Carrying PAX6 Disease-Causing Variants

The aim of this study was to report PAX6 disease-causing variants in six Czech families, to describe the associated phenotypes, and to perform functional assessment of the splice site variants. Detailed ophthalmic examination was performed. The PAX6 coding region was directly sequenced in three probands. Two probands were analysed by exome sequencing and one by genome sequencing. The effect of two variants on pre-mRNA splicing was evaluated using an exon trapping assay. Six different heterozygous PAX6 variants were identified, with c.111_120del and c.1183+1G&gt;T being novel. Both c.1183+1G&gt;T and c.1032+1G&gt;A were proved to cause aberrant splicing with exon skipping and subsequent frameshift. The phenotypic features were variable between and within families. One individual, aged 31 years, presented with mild unilateral ptosis accompanied by aniridia in the right eye, partial aniridia in the left eye, and bilateral congenital cataracts, without marked foveal hypoplasia. Bilateral microcornea, partial aniridia, congenital cataracts, and a large posterior segment coloboma were found in another proband, aged 32 years. One child, aged 8 years, had bilateral high myopia, optic nerve colobomas, anterior polar cataracts, but no iris defects. Another individual, aged 46 years, had bilateral congenital ptosis, iris hypoplasia, keratopathy with marked fibrovascular pannus, anterior polar cataract, and foveal hypoplasia combined with impaired glucose tolerance. However, his daughter, aged 11 years, showed classical features of aniridia. Our study extends the genetic spectrum of PAX6 disease-causing variants and confirms that the associated phenotypic features may be very broad and different to the ‘classical’ aniridia.

AXIOLOGIZATION AS A TOOL OF PREVENTION SOCIAL PATHOLOGICAL PHENOMENA IN CZECH SOCIETY

Liberalism brought not only positives but also negatives to Czech society. The emphasis on individual values eliminated social cohesion and gave more space to many socially pathological phenomena. These include radicalization, extremism, xenophobia and ageism. And it is ageism that manifests itself at all levels of Czech society. It can be found in stereotypes and myths, it is presented in contempt or aversion, it appears in services of all kinds. It can be found in language nicknames, it is a motif of jokes and ridicule. This article presents ageism in the Czech media and points out possible sources and forms of ageism in Czech families. According to experts, these socio-pathological phenomena can be eliminated through axiologization and their modifications, which are considered in this paper prosocial or prosenior education.

Nutritionally adequate food baskets optimised for cultural acceptability as basis for dietary guidelines for low-income Czech families

BackgroundCzech nutrition recommendations prioritize health aspects without considering affordability. Low socio-economic groups have the highest risk of nutrition-related noncommunicable diseases and cost has been identified as an obstacle to achieve a healthy diet, making the implementation of affordability into dietary guidelines necessary. The aim of this study was to develop a food basket (FB) for a low income Czech family of four that is nutritionally adequate, health-promoting and culturally acceptable at an affordable price.MethodsLinear programming optimisation was used to ascertain that the FB covered the recommended nutrient intakes from the Czech Nutrition Society and from the World Health Organization (WHO). Cost of the FB was calculated on the basis of more than 3900 prices of 330 foods. Within a given cost constraint, all FBs were optimized for the highest possible similarity to the reported food group intake according to the most recent Czech National Food Consumption survey, which was used as a proxy for cultural acceptability.ResultsThe optimised FB affordable at a daily food budget for a Czech family on minimum wage (CZK 177, ~ € 6.8) contained 76 foods and had an average relative deviation of 10% per food category from reported intake. The main deviations were: 72% less sweets and confectionery; 66% less salt; 52% less meat; 50% less milk products; 8% less potatoes; and 484% more milk; 69% more oils and fats; 20% more cereals; and 6% more vegetables.ConclusionsThe optimised FB can help to guide the development of food-based dietary guidelines for low income households in Czech Republic.

Intergenerational Transmission of Work Values in Czech Republic, Spain, and Turkey: Parent-Child Similarity and the Moderating Role of Parenting Behaviors

Although public debates emphasize a weakening of work values and ethics over the last few decades, little attention has been paid to the transmission of work values between parents and children. It is still unclear what kind of parental behavior is critical and if culture influences the intergenerational transmission of work values. Based on socialization and value transmission theories, we explore the question by comparing three countries with different cultural characteristics: Czech Republic, Spain, and Turkey. We used data from the CUPESSE project collected from young adults aged 18 to 35 and their parents. Turkish young adults and parents reported higher levels of moral- and gender-based work values than their Spanish and Czech counterparts. Parent-child similarity in work values was the highest among the Turkish families and the lowest among the Czech families. Overall, we find that stronger moral and redistributive work values and weaker gender role–based work values are associated with high levels of parental warmth and autonomy granting and low levels of perceived psychological control. Results suggested that family climate, rather than specific paternal and maternal parenting behaviors, have more substantial effect on the value transmission. We discuss implications that consider the role of cultural orientation and gender roles.

ДИНАМІКА СПОЖИВАННЯ ПРОДУКТІВ ХАРЧУВАННЯ У ДОМОГОСПОДАРСТВАХ УКРАЇНИ ТА ЧЕХІЇ

У статті розглянуто динаміку споживання продуктів харчування у домогосподарствах України та Чехії за період 2013-2017 рр. Зроблено висновок про зростання сукупних ресурсів домогосподарств України за період 2010-2017 рр. на 82,64% і відповідно зростання витрат за той же період на 86,88 %. Перевищення динаміки зростання середньомісячних витрат над середньомісячними доходами на одне домогосподарство України склало 4,24%. Питома вага споживчих витрат домогосподарств України у 2017 р. склала 93,0% від загальних витрат. Валовий грошовий дохід на людину в рік в Чехії за період 2013-2017 рр. зріс на 19,67%, сукупні витрати на споживання за той період зросли на 8,35%. Перевищення динаміки зростання доходів на одну людину в рік над зростанням витрат у домогосподарствах Чехії склало 11,32 %. Витрати на споживання у чеських родинах склали у 2017 р. 63,36 %. Домогосподарства України на статтю витрат «продукти харчування та безалкогольні напої» витратили у 2017 р. 51,2% сімейного бюджету. Чеські родини витрачають на продукти харчування на 31,3% менше, ніж українські родини. За результатами проведеного дослідження зроблено наступні висновки. Рівень споживання продуктів харчування у домогосподарствах Чехії за період 2013-2017 рр. зріс, зокрема: м’яса на 7,35%, фруктів – 6,77%, овочів – 6,39%, молока та молочних продуктів – 5,29%, цукру – 4,49%, хлібопродуктів – 1,01%. Рівень споживання продуктів харчування у домогосподарствах України за 2013-2017рр. знизився, зокрема: риби на 27,78%, олії – 11, 76%, фруктів – 9,76%, овочів – 6,38%, картоплі – 5,63%, цукру – 6,67%, хліба – 6,67%, м’яса – 3,92%. У порівняльній характеристиці споживання продуктів харчування домогосподарства Чехії спожили у 2017 р. більше ніж домогосподарства України: фруктів на 84,68%, м’яса - 36,56 %, яєць - 5,83 %, мучних виробів - 12,59 % та менше: олії на 72,22 %, риби – 65,38%, овочів – 16,48 %, картоплі – 14,80 %. Зроблено висновок, що рівень життя домогосподарств Чехії вищий ніж рівень життя домогосподарств України.

Weekday–weekend variations in mother-/father–child physical activity and screen time relationship: A cross-sectional study in a random sample of Czech families with 5- to 12-year-old children

This study assessed the associations between these factors in a random sample of Czech families with preschool and school-aged children. A nationally representative sample comprised 185 families with preschool children and 649 families with school-aged children (dyads; both parents and child n = 365, mother and child n = 730, and father and child n = 469). The participants wore Yamax Digiwalker SW-200 pedometers at least four weekdays and both weekend days and completed family logbooks (anthropometric parameters, daily step counts (SC), and screen time (ST)). When a parent (fathers at weekends and mothers both on weekdays and at weekends) achieved 10,000 SC per day, their children were also significantly (OR = 2.93–6.06, 95% CI = 2.02–9.26) more likely to meet the daily SC recommendation. On the contrary, the involvement of fathers in organized leisure-time PA reduced their children's odds of meeting the SC recommendation on weekdays (OR = 0.53, 95% CI = 0.31–0.89) and at weekends (OR = 0.41, 95% CI = 0.24–0.72). The excessive ST of parents at weekends reduced the odds of their children meeting the SC recommendation (mother–child dyads: OR = 0.44, 95% CI = 0.26–0.72; father–child dyads: OR = 0.63, 95% CI = 0.37–1.06). High levels of parents’ PA contribute to the achievement of the recommended daily PA in children on weekdays and at weekends. Excessive weekend ST of parents reduces their odds of their children achieving the recommended daily PA; however, the influence of parents’ PA on their children’s achieving the recommended daily PA is stronger than the inhibitory effect of ST.

073_16776-B2 Unexpectedly High Incidence of T309I Mutation in KCNQ1 Gene Among Czech Families With Long QT Syndrome

Mutations in up to 15 genes have been associated with long QT syndrome (LQTS), most encoding for subunits of cardiac ionic channels. In majority of cases, each family has its “own” mutation. Individuals with suspected LQTS are regularly investigated in University Hospital Brno, all of them