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Różnorodność genotypowa i fenotypowa w zespole pierścieniowego chromosomu 21

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Lidia Perenc L.
Medical Review
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2015
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issue 4
394–405
PL
Wprowadzenie. Zespół pierścieniowego chromosomu 21 należy do grupy chorób zależnych przede wszystkim od konstytucji genetycznej. Cel. Celem tej pracy jest usystematyzowanie i synteza wiadomości dotyczących różnorodności genotypowej i fenotypowej występującej w tym zespole. Materiał i metoda. Dokonano systematycznego przeglądu najnowszego piśmiennictwa odnoszącego się do etiopatogenezy oraz obrazu klinicznego zespołu pierścieniowego chromosomu 21. Wniosek. Zespół pierścieniowego chromosomu 21 charakteryzuje się zarówno różnorodnością genotypową, jak i fenotypową. U podłoża zespołu leży złożony i przypadkowy proces rearanżacji genomu. Posiada on równocześnie cechy zespołu malformacyjnego i dysplastycznego.
EN
Introduction. The ring chromosome 21 belongs to a group of diseases dependent on the genetic constitution of an individual. Aim. The aim of this paper is systematization and synthesis of the knowledge related to genotypic and phenotypic variability occurring in this syndrome. Material and method. The author has carried out a systematic review of current literature related to etiopathogenesis and clinical picture of the ring chromosome 21 syndrome. Conclusion. The ring chromosome 21 syndrome is characterized by genotypic and phenotypic variability. It possesses traits of both the malformed and dysplastic syndrome.
2
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Changes in body proportions of children and adolescents from Rzeszów during a 35-year period from 1978/79–2013/14

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Lidia Perenc L., Anna Radochońska A., Joanna Błajda J.
European Journal of Clinical and Experimental Medicine
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2018
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issue 4
26-282
EN
Introduction. Environmental conditions have been changing over the years and the body’s capacity to adapt affects human development, its growth and typogenesis. Aim. To confirm the secular trend in the population of children and adolescents aged 4 to 18 from Rzeszów in the last 35 years in terms of growing and differentiation body proportions. Materials and methods. In 2013/2014, a total of 1,563 children from Rzeszów were examined. The length of the trunk, the upper limb, the lower limb, the width of the shoulders and the width of the hips were measured and the following indices were calculated: trunk length, upper limb length, lower limb length, inter-limb, hip-shoulder and shoulder width. The data was subjected to statistical analysis and compared to the data collected in 1978/79, 1993/1994 and 2003/2004. Results. During the 35-year period, the following symptoms were observed: elongation of upper and lower limbs in both sexes, increase in shoulder width in boys from 15-18 years of age, and in girls generally in the entire examined age, tendency to decrease in hip width in both sexes in most age classes. Conclusions. The secular trend in the population of children and adolescents aged 4 to 18 from Rzeszów in the last 35 years regarding growth process and differentiating body proportions was confirmed.
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Somatic growth in children and adolescents from Rzeszów, aged 4–18, and its variability over the thirty-five year period from 1978/79 to 2013/14

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Lidia Perenc L., Anna Radochońska A., Joanna Błajda J.
Medical Review
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2016
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issue 3
244-265
EN
Introduction. Changes occurring over the years in environmental conditions and in organism’s adaptability contribute to changes in the human morphological and functional phenotype. Purpose of the study. Assessment of progress in body weight, body height, chest circumference, as well as Quetelet II (BMI), Rohrer, and Marty indexes in children and adolescents from Rzeszów, aged 4-18, and changes in the period of the recent 35 years. Material and methods. The total of 1,563 children from Rzeszów were examined in 2013/2014. Measurements were carried out to identify body weight, body height, chest circumference; based on that Quetelet II, Rohrer, and Marty indexes were calculated. Results. The findings, presented in tables and figures, have been interpreted. Conclusions. Somatic growth in the examined population is consistent with generally recognized regularities. The secular trend continues in the period of 35 years. It is impossible to make an explicit claim regarding stabilization of growth during the last 10 years.
PL
Wprowadzenie. Zmieniające się na przełomie lat warunki środowiskowe oraz zdolność organizmu do adaptabilności wpływają na zmianę fenotypu morfologicznego oraz funkcjonalnego człowieka. Cel badań. Ocena rozwoju masy ciała, wysokości ciała, obwodu klatki piersiowej, wskaźników: Queteleta II (BMI), Rohrera, Marty’ego dzieci i młodzieży z Rzeszowa w wieku od 4 do 18 lat oraz jego zmiany w ciągu ostatnich 35 lat. Materiał i metody. W latach 2013/2014 przebadano łącznie 1563 dzieci z Rzeszowa. Zmierzono masę ciała, wysokość ciała, obwód klatki piersiowej, obliczono wskaźniki: Queteleta II, Rohrera, Marty’ego. Dane poddano analizie statystycznej. Porównano do danych zgromadzonych w poprzednich latach: 1978/79, 1993/1994, 2003/2004. Wyniki. Przedstawiono w tabelach i na rycinach oraz zinterpretowano. Wnioski. Rozwój somatyczny w badanej populacji przebiega zgodnie z uznanymi powszechnie prawidłowościami. Trend sekularny utrzymuje się na przestrzeni ostatnich 35 lat. Nie można jednoznacznie wypowiedzieć się co do występowania stabilizacji rozwoju w ciągu ostatnich 10 lat.
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Role of selected self-monitoring techniques in treatment of overweight and obesity in adolescents

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Lidia Perenc L., Anna Radochońska A., Małgorzata Zaborniak-Sobczak M.
Medical Review
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2015
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issue 4
387–393
PL
Wstęp. Samokontrola uważana jest obecnie za podstawową metodę stosowaną w profilaktyce oraz terapii otyłości i nadwagi u młodzieży i dorosłych pacjentów. Jej istota polega na bieżącym rejestrowaniu informacji dotyczących rodzaju i ilości spożywanego pokarmu, jego wartości kalorycznej oraz codziennej aktywności fizycznej. Podstawowa rola samokontroli polega na podnoszeniu świadomości pacjenta w odniesieniu do jego zachowań, myśli i emocji wpływających na kontrolę wagi ciała oraz całkowity sukces leczenia. Cel pracy. Celem pracy jest przedstawienie korzyści związanych z zastosowania różnych metod samokontroli w procesie terapii nadwagi i otyłości u młodzieży. Materiał i metoda. Autorzy dokonali systematycznego przeglądu literatury dotyczącej zastosowania samokontroli w przebiegu terapii nadwagi i otyłości ze szczególnym uwzględnieniem młodzieży. Większość prac objętych przeglądem została opublikowana w XXI wieku. Wyniki. Analiza wybranych badań wykazuje, że samokontrola jest uważana za kluczowy element behawioralnej terapii nadwagi i otyłości u młodzieży. Pozytywne wyniki leczenia zależą od takich czynników, jak systematyczność w rejestrowaniu informacji, stosowanie urządzeń technicznych oraz motywacja prezentowana przez pacjenta. Wniosek. Analizowane prace badawcze, pomimo różnorodności zastosowanych metod, dostarczają empirycznych dowodów na obecność istotnego związku pomiędzy samokontrolą a korzystnymi wynikami terapii nadwagi i otyłości u młodzieży. Istnieje potrzeba prowadzenia badań nad rolą czynników psychologicznych w determinowaniu wyników leczenia tego rodzaju zaburzeń.
EN
Introduction. Self-monitoring is regarded as a key technique of weight management applied in treatment of obesity and overweight both in adults and adolescents. It includes recording behaviours such as types and amount of food consumed, their caloric value, and daily physical activity. Selfmonitoring is used to heighten awareness of behaviours, thoughts and emotions that influence weight control and overall treatment success. Aim. This work is aimed at demonstrating the advantages of self-monitoring techniques regarded as facilitating factor in the treatment of overweight and obesity in adolescents. Material and method. The authors have applied a systematic review of the literature on self-monitoring in behavioural weight control studies. This review included mostly papers published in XXI century and that reported on the association between weight loss and self-monitoring behaviours. Results. The analysis of respective studies indicates that self-monitoring is an important element behavioural treatment of overweight and obesity in adolescents. Positive outcomes of the treatment depend on such factors as adherence to self-monitoring, use of technical devices and motivation presented by the patients. Conclusion. The reviewed literature, despite of a wide range of methods used in particular studies, provides empirical evidences supporting significant association between selfmonitoring and successful outcomes related to weight management in overweight and obese adolescents. Future investigations also should be aimed at the effects of psychological factors on treatment success and the design of cost-effective interventions that serve to maximize the success.
5
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Endurance training of the respiratory muscles –literature research

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Lidia Perenc L., Bożenna Karczmarek-Borowska B., Monika Tymczak M.
Medical Review
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2016
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issue 2
193-208
EN
Introduction. In 1976, Leith and Bradley proved that strength and endurance of the respiratory muscles in young healthy volunteers could be successfully trained using respiratory muscle endurance training. In 1992 Urs Boutellier and Christina Spengler’s cooperation resulted in the construction and distribution of SpiroTiger training device. Aim of the study. To analyze available data on monitoring and documenting changes after the respiratory muscles endurance training. Presentation of changes after specific training in the athletes, healthy and chronically ill individuals. Material and methods. Literature Research and the PubMed database analysis using the following keywords: respiratory muscles endurance training, normocapnic hyperventilation, SpiroTiger. Conclusions. Monitoring and documentation of changes in the lung and respiratory muscle function and endurance under the influence of the training can be conducted in a manner consistent with evidence-based medicine. Improved respiratory muscle endurance and ability to perform the effort was observed in the athletes, healthy adults and chronically ill patients under the influence of the training.
PL
Wprowadzenie. W 1976 roku Leith i Bradley udowodnili, że można kształtować siłę i wytrzymałość mięśni oddechowych u młodych, zdrowych ochotników za pomocą treningu wytrzymałości mięśni oddechowych. Współpraca Ursa Boutelliera i Christiny Spengler prowadzona w 1992 roku zaowocowała konstrukcją urządzenia treningowego SpiroTiger i jego rozpowszechnieniem. Cel pracy. Przeanalizowanie dostępnych danych na temat monitorowania i dokumentowania zmian po treningu wytrzymałościowym mięśni oddechowych. Przedstawienie zmian pod wpływem specyficznego treningu u sportowców i osób zdrowych oraz przewlekle chorych. Materiał i metoda. Przegląd i analiza piśmiennictwa z wykorzystaniem bazy danych PubMed i słów kluczowych: trening wytrzymałościowy mięśni oddechowych, normokapniczna hiperwentylacja, SpiroTiger. Wnioski. Monitorowanie i dokumentowanie zmian czynności płuc i mięśni oddechowych oraz wytrzymałości pod wpływem treningu można prowadzić w sposób zgodny z medycyną popartą faktami. Pod wpływem treningu u sportowców i osób dorosłych, zdrowych oraz u przewlekle chorych następuje poprawa wytrzymałości mięśni oddechowych i zdolności do wykonywania wysiłku.
6
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Changeableness of selected characteristics of the head in the Rzeszów children and adolescents aged 4 to 18 in during a 35-year period

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Lidia Perenc L., Anna Radochońska A., Joanna Błajda J.
European Journal of Clinical and Experimental Medicine
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2017
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issue 3
217-232
EN
Introduction. Over the past decades, anthropometric studies have focused more on secular changes in body height and weight, and less on changes in head features. Meanwhile, changing socio-economic conditions, especially the nutritional status of the human population, support the need to document some of the metric head features in children and adolescents. Aim. The aim of this study was to determine whether there has been changes over time in the morphological development of the head with respect to socio-economic conditions at the turn of the last century on sample population of children and adolescents from Rzeszów. Material and methods. In the years 1978/79, 1993/94, 2003/04 and 2013/14, a total of 9041 Rzeszów children aged 4 to 18 were examined. Anthropometric measurements were based on a technique developed by Martin and Saller. The following features were taken into account: head length and width, morphological face height, maximum face width, nose height and width, and head circumference. The relevant head, face and nose indices were calculated from the measured data. New indices for head circumference have also been proposed. Results. Such changes as head elongation, shortening of morphological face and nose height, and widening of the nose from hyperleptorrhinus to leptorrhinus were found in both sexes. Conclusions. 1. During the past 35 years there have been noticeable changes in the morphological characteristics of the head, face and nose. 2. Further follow-up to the development of head features is recommended.
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Forms of physical activity of the elderly

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Piotr Czarnecki P., Justyna Podgórska-Bednarz J., Lidia Perenc L.
European Journal of Clinical and Experimental Medicine
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2020
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issue 3
221-228
EN
Introduction. Physical activity is known to be an important factor influencing health throughout human life. This issue has become crucial for public health due to the aging of the population in both developed and developing countries. Aim. is to present a literature review on the forms of physical activity undertaken by the elderly, as well as on issues related to physical activity and the population aging. Material and methods. The study was prepared on the basis of a review of Polish and foreign literature. The following databases and data sources were used: EBSCO, ScienceDirect and Google Scholar. An additional source of data were the websites of the Central Statistical Office. Strictly defined key phrases were used during the collection of literature. The work has been divided into thematic subsections on the aging of the society, the impact of physical activity on health and the main topic, i.e. forms of physical activity selected by the elderly. Analysis of the literature. The number of elderly people in Polish society has increased by almost 3.7 million over three decades. Therefore, an important topic is prophylaxis aimed at increasing the number of days in good health, largely covering the broadly understood activation of the elderly. The available data indicate that only 12% of elderly people undertake physical activity once a week. The most common form of spending free time actively is walking (as many as 73% of people in this population declare this form of physical activity in one of the presented studies). Conclusion. Organized forms of physical activity are undertaken much less frequently by the analyzed age group mainly due to financial limitations and limited availability of sports infrastructure
8
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Diversification of results of orientating questionnaire of motoric and psycho-social development in regard to the level of educational maturity (school readiness) in prematurely born children

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Lidia Perenc L., Barbara Cyran-Grzebyk B., Katarzyna Zajkiewicz K., Katarzyna Walicka-Cupryś K.
European Journal of Clinical and Experimental Medicine
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2018
|
issue 4
289-299
EN
Introduction. Currently, one of the most common problems in neonatology is the occurrence of distant consequences of prematurity. In infants, toddlers, and children with special problems, there can be disorders in psychomotor development and in growing, and later also intellectual and cognitive disorders. Pre-school and early-school age is particularly significant in the lives of prematurely born children. In this period, usually beside the stage of somatic growth, there is intensive physical and mental development and intellectual disorders may appear. Aim. Assessment of preterm training in motor skills and psychosocial development Materials and methods. The research group consisted of 61 prematurely born children aged 5-8. Perinatal interviews were collected and basic anthropometric measurements were performed. Results. There is no statistical significance between questionnaire results in particular areas of development, summary, age, gender, subsequent pregnancies, number of fetuses, delivery term and the type of delivery. Conclusions. The Apgar disinfectant scale differentiates the results of the indicative questionnaire on motor development research. The results of the study confirm the prognostic importance of the Apgar scale in terms of development.
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The factors discriminating the results of screening test aimed at detection of scoliosis and detection of flexibility disorders in group of preterm children at the beginning of school age

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Paweł Piwoński P., Lidia Perenc L., Katarzyna Walicka-Cupryś K., Katarzyna Zajkiewicz K., Maciej Rachwał M., Justyna Drzał-Grabiec J., Łukasz Przygoda Ł., Barbara Cyran-Grzebyk B., Zuzana Hudáková Z., Piotr Czarnecki P.
European Journal of Clinical and Experimental Medicine
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2019
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issue 3
221–228
EN
Introduction. The threshold of compulsory schooling for prematurely born children is of particular importance. It’s a period of intense physical development which may increase the risk of scoliosis. Aim. The aim of this research is to determine whether age, gender, BMI value and selected elements of perinatal interview discriminate the results of screening test aimed at detection of scoliosis and flexibility disorders in group of preterm children at the beginning of school age. Material and methods. The study population consisted of 61 preterm children aged 5-8 years. The study included perinatal interview, BMI assessment, screening tests to detect scoliosis and flexibility. Results. Statistically significant dependence was obtained between age and normal and abnormal results of the screening test aimed at detection of scoliosis and between the result of the screening test for detecting flexibility disorders and: age, number of foetuses, assessment on the Apgar scale. Conclusion. The results of screening test aimed at occurrence of scoliosis in group of preterm children are significantly correlated with the age and screening test aimed at occurrence of the flexibility disorders are discriminated by age, origin from monoor multi-foetus pregnancy and assessment on the Apgar scale
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