Ročník 21 Číslo 1
Age at development of localised hypoplasia of primary canines (LHPC) in children in the necropolis of Great Moravia in Znojmo-Hradiště (9th–10th c. AD, Czech Republic)
Martina Jančová, Eva Drozdová, Bohuslav F. Klíma
The aim of the study was to estimate the pre-, peri-, or postnatal origin of localized hypoplasia of primary canine (LHPC) and determine the most common age of death of individuals with LHPC. We also evaluated the total defect formation time and determine the average value in the months ahead. The examined file was 31 non-adults in the necropolis of Great Moravia in Znojmo-Hradiště (9th and the first half of the 10th century), who had retained primary canines with LHPC. 80.0% of individuals showed postnatal hypoplastic defect, 13.3% prenatal and 6.7% (n=1) displayed both postnatal and perinatal LHPC, too. The incidence of localised hypoplasia was the same in the upper and lower teeth. In maxillary canines, the incidence of postnatal hypoplasia was very high (90.9%), in the mandibular canines also significantly prevailed but was slightly lower (81.8%). On average, therefore, the incidence of LHPC of postnatal origin was 86.4% for the examined canines. More than half of the examined individuals with LHPC died at the age of 2–5 years. Average time of formation of hypoplastic defects in the primary canines comes in our group at 4.9 months, which is comparable with literature data of 5.2 months.
Cardiomyopathies: clinical diagnostics and molecular-genetic approach
Iveta Boroňová, Jarmila Bernasovská, Ján Kmec, et al.
Cardiomyopathies with known genetic cause include hypertrophic (HCM), dilated (DCM), restrictive (RCM), arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) and left ventricular noncompaction (LVNC). Recent advances in understanding of genetic basis of cardiomyopathies present new challenges for cardiologists and clinical practice. The objective of the present study was identification of familial form of cardiomyopathies in the survey of eight patients (six males, two females) from East Slovakia with clinical diagnosis of cardiomyopathy and report of valid reccommmendations for genetic evaluation of cardiomyopathies for practical application in clinical practice. We identified one case of familial form of cardiomyopathy. In patient with familial cardiomyopathy, heterozygous variant in exon 33 of myosin-binding protein-3 (MYBPC3) gene – potencially pathogenic variant, six variants of uncertain significance in TTN and LMNA genes and three novel variants of BRAF, MYH7 and TAZ genes were detected. Interdisciplinary approach to diagnosis and treatment of cardiomyopathies anticipates implementation of HFSA Guideline Approach to Medical Evidence for Genetic Evaluation of Cardiomyopathy recommendations.
Hodnotenie zdravotného stavu a imunogenetickej predispozície u pacientov s ankylozujúcou spondylitídou zo Slovenska
Branislav Kolena, Lucia Vojteková, Vladimír Bošák
Health condition and immunogenic predisposition in patient with ankylosing spondylitis from Slovakia. The current study is focused on the perceptions of accompanying factors of Ankylosing Spondylitis (AS), immunogenic predisposition and point out possible causes of subjective perception of pain of patients, diagnosed at the National Institute of Rheumatic Diseases in Piešťany (n=79).We observed higher incidence of AS in males (75.9%) vs. females (24.1%). Surprisingly, associations were not found between Body mass index vs. physical fatigue, and BMI vs. morning stiffness of patients. We observed an association between the perception of physical fatigue and gender (W=0.328; p=0.025), to the detriment of males. Non-articular symptoms of AS were present in 42.4% of men and 57.9% of women. On the other hand, length of the disease was not associated with them. The difference in HLA-B27 antigen frequencies in patients and control group was statistically significant, value of the relative risk OR=124,3.
Rozhoduje doba počatia o schopnosti empatizácie? Vzťah medzi 2D : 4D, mesiacom narodenia a EQ u študentov zo Slovenska
Tomáš Senko, Lucia Olexová, Lucia Kršková
Does moment of conception decide on the capability of emphatizing? The relationship between 2D:4D ratio, month of birth and EQ in students from Slovakia. Digit ratio (2D:4D) and empathy are sexually dimorphic and their determination in utero is influenced by testosterone. The solstitial-melatonin-testosterone hypothesis posits that melatonin inhibits the production of foetal testosterone. The lowest level of melatonin is when the photoperiod is long. In this study, we examined the influence of the time of conception on 2D:4D and empathic abilities of probands (138 males and 87 females, aged 24.47±0.12). A questionnaire was used for stating the month of birth and calculating the month of conception. The photoperiod was determined based on a web site Time and Date AS. The 2nd and 4th finger was measured using a Vernier caliper and the empathizing quotient (EQ) was determined using a special empathy test. We did not find any correlation between period of conception or 1st trimester of gravidity and 2D:4D. However, we have confirmed negative correlation between the photoperiod per month of conception (R=-0.17; p<0.05) and in 1st trimester (R=-0.23; p<0.01) and EQ in males, but not in females. Our results suggest that photoperiod during the time of conception influences the postnatal behavioural strategies including empathy.
Sangerova sekvenačná analýza vybraných exónov génov NEBL, MYBPC3 a SCN5A v spojitosti s hypertrofickou kardiomyopatiou u pacientov zo Slovenska
Soňa Mačeková, Iveta Tóthová, Lucia Gajdošová, et al.
Sanger sequence analysis of selected exons of the NEBL, MYBPC3 and SCN5A genes in association with hypertrophic cardiomyopathy in patients from Slovakia. Hypertrophic cardiomyopathy is a disorder of left ventricular myocardial structure and function. It is characterized by abnormal left ventricular hypertrophy, dyspnea, chest pain, and arrhythmia. It can lead to heart failure and sudden cardiac death. In the last 10 years, we have seen the greatest progress in clinical, biochemical and genetic studies of hypertrophic cardiomyopathy. The aim of our study was to identify mutations responsible for the development of hypertrophic cardiomyopathy using the Sanger sequencing analysis in 15 probands. We sequenced three genes – NEBL (exon 3), MYBPC3 (exon 12), SCN5A (exon 27). A heterozygous mutation in the NEBL gene was found in a 60-year-old patient with HCM, and two heterozygous mutations were found in the MYBPC3 gene in two asymptomatic probands whose mother suffers from this disease. However, we did not find a causal mutation in this gene. For the future, we would recommend a further analysis of the whole exome sequencing of the affected patients and their family members, which could reveal a causal mutations, and greatly accelerate diagnostics of the disease in family members.
Paleopatologická analýza dětských kosterních pozůstatků z únětického pohřebiště v Mikulovicích (Česká republika)
Kateřina Vymazalová, Lenka Vargová, Ladislava Horáčková, et al.
Palaeopathological analysis of children´s bone remains from Mikulovice (2200-1750 BC, Czech Republic). The presented paper focuses on palaeopathological analysis of skeletal remains of 37 juveniles from the archaeological research of the Únětice burial site in Mikulovice (district of Pardubice). The osteological collection dates back to the period of the Únětice Culture (Early Bronze Age, ca 2200–1750 cal BC). From the pathological changes, in 24.3% of the skeletons (N=37) were observed traces of the inflammatory process, most of which were caused by tuberculosis. In two cases, it was Pott’s disease of the spine; others were a manifestation of tuberculous meningitis. In addition, four skeletons with multiple periostitic foci of an unclear etiology were found. It was probably a metabolic disorder or a mycosis. From congenital abnormalities, congenital ankylosis of the forearm bones were recorded and calcaneonavicular coalition as well. Cribra orbitalia in 35.1% of cases and dental hypoplasia in 24.3% of cases were considered signs of long-term stress of different etiology. To the isolated traumatic findings belonged the infarction of the clavicle. Only one benign osteoma was recorded on the skeletons from tumor diseases.
Asociácia I/D polymorfizmu v géne ACE a biologických zmien u žien zo Slovenska trpiacich hypertenziou
Darina Falbová, Veronika Candráková Čerňanová, Daniela Siváková, et al.
Association of the ACE gene I/D polymorphism and biological changes in women from Slovakia suffering from hypertension. The aim of this study was to investigate the variability of the ACE gene I/D polymorphism in relation to selected anthropometric and biochemical parameters and body composition parameters in the sample of 39- to 65-years-old Slovak women suffering from hypertension. The studied sample consists of 243 women; 86 premenopausal (mean age 46±3.97) and 157 postmenopausal women (mean age 56±4.17). ACE I/D polymorphism was detected by PCR-RFLP method. The ACE I/D genotype showed statistically significant association with a low-density lipoprotein (LDL) cholesterol in the whole group of women. In premenopausal women, significant impact of ACE I/D polymorphism was detected for body composition components – body cell mass (BCM), total body water (TBW), intracellular water (ICW), fat free mass (FFM), muscle mass (MM) and biochemical parameters – LDL cholesterol and total cholesterol. The mean values of the above mentioned variables were significantly lower in women carrying the I/I genotype. No significant differences in postmenopausal women were recorded in any observed models.
Sprievodca forenznej antropológie zo stredovekej Číny
Soňa Masnicová, Radoslav Beňuš, Mária Kondeková
A Guide to Forensic Anthropology from Medieval China. The article deals with the level of knowledge about the human skeleton and the possibilities of its investigation in cases of finding skeletal remains in medieval China. We drew from the English translation of the work „Hsi yuan chi lu“ written by the respected Chinese author Sung Tz’u (1186 – 1249). His work is considered to be the oldest systematic work in the field of forensic medicine but also in other forensic sciences, and its author, Sung Tzu, is considered to be a founder of forensic science. In the paper, we focused mainly on the parts in which the author describes methods for distinguishing between male and female remains, detection of injuries and bone fractures, determination of the cause of death, estimation of the time expired since death and their application in cases of juridical practice. The aim was to point out the importance of the work in terms of the history of forensic anthropology.
Morfologické markanty a ich deformácia pri odtlačkoch ušnice probandov zo Slovenska
Mária Kondeková, Radoslav Beňuš, Soňa Masnicová, et al.
Morphological markers and their deformation in ear prints of probands from Slovakia. The analysis was conducted on 360 ear prints and 120 ear photos from 30 adult men and 30 adult women aged between 17 and 50 years, whilst the average age of the individual was 24.55 years. Twenty morphological markers were observed on the ear with individual pecularities. The individual features and their corresponding categories were evaluated visually. The aim of this study was the analysis of the ear morphological markers and its deformations on the ear prints in the current population. The effect of the pressure has not been significant in the Darwin’s tubercle, tubercle of the root of the superior helix (TRHS), tubercle of the superior helix (TSH), tragus, antitragus and concha. The pressure did not affect the convolution of the helix and the formation of anthelix (except the formation of its arms). The statistical analysis of the bilateral differences in the ear morphological features did not prove any significant differences. The analysis of the intersexual differences showed statistically significant ones in the visible part of the helix, in the location of the Darwin’s tubercle and in the shape of the incisura helicis anterior. Darwin’s tubercle, located directly on the helix of the left ear, was found only in the male population (23.33%). V-shaped incisura helicis anterior was more frequent in the male population on both ears (56.67% left ear, 56.67% right ear) than in the female population (23.33% left ear, 23.33% right ear).
Ročník 21 Číslo 2
Diachrónne trendy vybraných kraniálnych indexov u predhistorických a historických populácií z územia Slovenska
Štefánia Pavlíková, Silvia Bodoriková
Diachronic trends of selected cranial indexes in the prehistoric and historical populations from the territory of Slovakia. The brachycephalic trend represents a relative shortening of the skull and is one example of a secular trend. The aim of this study was to identify if there is a brachycephalic trend among prehistorical and historical populations in the region of Slovakia. Three basic cranial indexes (I1 – length-width index of the skull, I2 – length-height of the skull, I3 – width-height index of the skull) were compared among adult individuals from 48 graveyards (dated into nine periods) and recent population. The skull diameters in both sexes have changed from the Bronze Age to the modern times. However, the trend of brachycephalization is not as unambiguous as we expected. The most significant differences were found in cranial index (I1). Significant brachycephalization occurred in the period of modern times. The results indicate an increasing trend in the number of dolichocephalic individuals in the recent population.
Hodnotenie variability tvaru zadnej hrany a uhla sánky dospelých jedincov z historických populácií z územia Slovenska metódami geometrickej morfometrie. Pilotná štúdia
Dagmara Gajanová, Michaela Dörnhöferová, Silvia Bodoriková, et al.
Assessment of the variability of the posterior edge and the angle of mandible in adult individuals from historical populations from Slovakia using geometric morphometry. Pilot study. In our study we focused on the variability assessment of the shape of the posterior edge of ramus manbibulae and the angle of the mandible. Analysed mandibles were scanned using 3D digitizer MicroScribe G2X. The shape of the bones was evaluated in 76 adults with determined sex (33 males and 43 females). Analyses of the curves were realized by the methods of geometrical morphometry in the R Statistical Software. The main points of analysis were Principal Component Analysis (PCA) and Generalized Procrustes Analysis (GPA). The software carried out visualization of curves and statistical evaluation of the mandible shape in regard of the tree main components. For the statistical treatment of the data, Student`s t-test has been selected. In this study, we have not been able to confirm the existence of intersexual and asymmetry differences.
Gravidita v interakcii s chronickým stresom u žien z Nitrianskeho kraja (Slovensko)
Ida Petrovičová, Henrieta Hlisníková, Miroslava Šidlovská, et al.
The interaction between chronic stress and pregnancy in women from Nitra District (Slovakia). Stress represents one of the most important underappreciated causes of reproductive disorders in women. The stress reaction leads to adaptive responses via mobilization of hormonal systems. In pregnancy, maternal stress is known to disturb foetal glucocorticoid environment. Intrauterine neural development is regulated by the mother’s endocrine system, to be more specific the relationship between thyroid hormones and cortisol. The study sample consists of 56 pregnant women in the age range 19–40 years. Based on preliminary results, we surprisingly found significantly higher cortisol and FT4 concentrations in pregnant women with lower stress compared to women with higher stress test scores. Our results confirm the hypothesis that the hypothalamus-pituitary-thyroid gland axis (HPT) plays a role in stress reaction in addition to the major HPA axis.
Assessment of body constitution in children from Bratislava (Slovakia) at early school age
Valéria Regecová, Eva Neščáková, Mária Fuchsová, et al.
The aim of the study was to verify the reliability of the body mass index (BMI) criteria in identifying normal weight and obesity with respect to gender. Anthropometric parameters (AP) – body height, weight, waist circumference, biceps, triceps, subscapular and suprailiac skinfolds were measured by standard techniques in 1,582 healthy children aged 6 –10 years living in Bratislava. Adiposity was evaluated by BMI using International Obesity Task Force (IOTF) definitions, waist height ratio (WHtR) and fat mass index (FMI). Combination of all three criteria adjusted for gender and age was used for the specification of body constitution. The mutual compliance of these criteria for identifying obesity was evaluated by chí-square. In non-obese boys (79%) and girls (81%), increased FMI>97th percentile (P) in 8.5% and 9.9% respectively was found. In all obese (6.2% boys and 4.2% girls), FMI and WHtR congruent to obesity. In only 2.2% of overweight boys and 1.2% of girls, normal fat content was confirmed. BMI classified according to IOTF remain a basic tool for the identification of obesity. However, the level of body fatness determined by WHtR and skinfold thicknesses may substantially contribute to recognizing a health risk associated with obesity in children.
Riziko vzniku obezity a podvýživy u detí s mentálnym postihnutím
Mária Fuchsová, Dominika Kohútová, Silvia Bodoriková, et al.
Risk of obesity and underweight in Slovak children with mental disabilities. In the study, the incidence of obesity, metabolic risk and underweight in 29 children with mental disabilities aged 7–16 years were evaluated. Children from a socially disadvantaged environment were not included into a research sample. The conclusions of this study reveal the potential pathological values pertaining the circumference of the abdomen in girls and circumference of the hip in boys. The other dimensions of children with mental disabilities were within accessible physiological variability. There was a greater metabolic risk as well as a higher incidence of obesity in girls with mental disabilities. The occurrence of low to very low body weight was recorded only in the group of boys with mental disabilities.
Metrické charakteristiky hrudníka u detí mladšieho školského veku z Bratislavského kraja a ich využitie v klinickej praxi
Lucia Mihalovičová, Eva Neščáková, Mária Fuchsová, et al.
Metric parameters of the chest in young school aged children from Bratislava region and its use in clinical practice. The aim of this study was to evaluate chest condition and intersexual differences in children from Bratislava region. The monitored group consisted of 334 measured children (160 boys and 174 girls) between six and 10 years. We performed anthropometric measurements, which included chest circumferences, transversal and anteroposterior chest diameter. Then we calculated thoracic index and chest area. The obtained results showed that boys in age of six to nine years achieve higher mean values in all investigated dimensions. Exception was in group of ten years old, where girls showed higher means in measured parameters. Regarding the thoracic index, majority of the children have flat or arched thorax, in some cases we found high values of thoracic index, which indicated that children have circular chest.
Změny v tělesné hmotnosti a BMI mezi I. a II. trimestrem u těhotných žen z Moravy
Renata Hrubá, Miroslav Kopecký
Changes in body weight and BMI in the pregnant women between 1st and 2nd trimester from Morava (Czech Republic). The aim of this research was to detect the effect of pregnancy on somatic parameters of women in the 1st and 2nd trimester. The sample comprised 40 women aged between 18 and 40.99 (the average 31.74 years) pregnant for the 1st time. The measurement was carried out in gynaecological offices in Kroměříž, Olomouc, Přerov and in the Centre for Woman and the Baby Radmila in Zlín during 2016 and 2018. Participation was voluntarily and the women gave consent to take part in the longitudinal survey. Body height, body weight and BMI parameters were measured according to standardized anthropometric methods. The comparison of somatic parameters of women between the 1st and 2nd trimester shows that body height remained the same and there was a significant increase in body weight and BMI. The biggest increase was detected in the category of obese women who gained 8.67 kg on average in the 1st or 2nd trimester. This increase almost reaches the maximum limit weight increase 5–9 kg recommended by WHO over the entire pregnancy. The results show that there is a risk of excessive weight gain in overweight and obese mothers, which can later cause complications for the mother and the foetus during pregnancy, the birth and even the postpartum period. At the same time, the results of measurements confirm the need for a regular anthropometric monitoring of somatic parameters at the start of pregnancy and during pregnancy.