Wyniki wyszukiwania - Biblioteka Nauki

1

DNA – a molecule that transformed science. A short history of research

100%

Gabryelska M. M. , Szymański M. , Barciszewski J.

Nauka

|

2009

|

nr 2

PL

Deoxyribonucleic acid (DNA) was identified 140 years ago by a Swiss physician Friedrich Miescher. His discovery was fundamental for the development of biochemistry, genetics and molecular biology. Contemporary biology, biotechnology and medicine largely depends on our ability to analyze, synthesize and manipulate DNA. We present highlights of the history of DNA research from the very beginning to the sequencing of human genome.

2

Self-regulating genes. Exact steady state solution by using Poisson representation

100%

Sugár I. , Simon I.

Open Physics

|

2014

|

tom 12

|

nr 9

615-627

EN

Systems biology studies the structure and behavior of complex gene regulatory networks. One of its aims is to develop a quantitative understanding of the modular components that constitute such networks. The self-regulating gene is a type of auto regulatory genetic modules which appears in over 40% of known transcription factors in E. coli. In this work, using the technique of Poisson Representation, we are able to provide exact steady state solutions for this feedback model. By using the methods of synthetic biology (P.E.M. Purnick and Weiss, R., Nature Reviews, Molecular Cell Biology, 2009, 10: 410–422) one can build the system itself from modules like this.

3

LEARNING IN LAMS: LESSON FROM A STUDENT TEACHER EXPLORING GENE ETHICS

100%

Dennis C.

Teaching English with Technology

|

2012

|

tom 12

|

nr 2

74-87

EN

Due to its complex and microscopic nature, genetics is a difficult subject for many learners to conceptually grasp. Graphics, animation and video material can be extremely helpful to their understanding. A wealth of educational online content about genetics has been created over the past decade in the wake of the human genome being sequenced. However, these digital resources are distributed across disparate sites and it requires a high level of content and pedagogical knowledge to orchestrate the progression and choice of material available to the learner, as well as technical expertise to bundle the resources in a meaningful and accessible format. A contextualised learning sequence, called ‘Gene Medicine’, has been designed in LAMS by the author, a student teacher who has a doctorate in human genetics, and who has undertaken a career change to teach science to secondary students. This paper reflects an ongoing professional learning experience as the author integrates her high-content expertise and developing pedagogical knowledge within the LAMS digital environment.

4

Genetyczna identyfikacja człowieka – zarys historii kryminalistycznych badań DNA

100%

Tucholska-Lenart A.

Kwartalnik Historii Nauki i Techniki

|

2016

|

tom 61

|

nr 3

7–42

EN

This overview presents the history of implementation of DNA testing into Polish forensic practice, possibilities of contemporary methods of identification of biological trace evidence, dead bodies and human remains as well as prospects related to the development of identification of offenders. In 2015, 25 years passed since the implementation of molecular biology techniques into Polish forensic practice. These novel methods and technologies have added an unprecedented dimension to human identification, wherein a unique DNA profile can be nowadays determined from samples containing as little as 2ng /2x10-9g/ DNA. In 1985, Alec Jeffreys, a geneticist from the University of Leicester reported that the human genome contains simple oligonucleotide repeats with identical sequence, yet different patterns in terms of the number of repeats and frequencies among individuals. Since an infinite number of such patterns is possible, a unique characteristics can be conferred on every single individual in a population. This discovery, along with the development of novel molecular biology tools, have opened the way for the introduction of DNA testing into forensic medicine (settling the cases of disputed paternity and kinship) and forensic proceedings (individual identification of offenders based on analysis of biological traces). The so-called DNA fingerprinting method enabled individual identification, which constituted a major breakthrough in quality of biological trace analysis. In Poland, the above method was introduced by Prof. R. Słomski from the Institute of Human Genetics of the Polish Academy of Sciences. On 15 May 1989, Prof. Słomski presented the Court with a forensic expertise containing unquestionable conclusions, based on the results of analysis conducted in accordance with the novel method. In the same year, the team led by Prof. Słomski was granted the State Award of the 1st Class for implementing molecular biology methods into Polish forensic practice. The years 1992-94 saw the introduction into forensic analyses of a molecular biology technique referred to as the Polymerase Chain Reaction, developed by K. Mullis, which constitutes a quantitative breakthrough in that it allows to analyze biological trace evidence containing as little as 2ng /2x10-9g/ DNA. In Poland, the DNA amplification reaction was pioneered by Prof. R. Słomski in August 1989, whereas in December 1992 the DNA from biological trace evidence was for the first time amplified by Dr. A. Tucholska-Lenart in the laboratory of the Internal Security Agency. The introduction of highly polymorphic repetitive sequences (STRs) and the development of advanced molecular technologies and techniques at the end of the nineties led to automation of DNA analyses and adoption of European standards, which facilitated international cooperation and comparability of laboratory results. Such endeavors are increasingly coordinated by Interpol, as well as by the ENFSI DNA Working Group. Presently, STR analysis is routinely used both in forensics (identification of biological traces and offenders) and in forensic medicine (settling the cases of disputed paternity and identification of dead bodies and human remains). Nowadays, the eyes of scientists and practitioners are on laser microdissection technology, which allows to recover single cells from biological trace evidence and can be subsequently used in molecular analyses aimed at determining an offender’s DNA profile. The implementation of this technique in Poland was concluded in the year 2011 by the team led by Dr. R. Wierzchoslawski at the Forensic Laboratory of the Internal Security Agency, as part of research and development of the project „AriaDNA 2010” No. 0R00002712, funded by the National Centre for Research and Development.

5

Molecular genetics of exfoliation syndrome

100%

Kasım B. , Mocan M. C. , İrkeç M.

OphthaTherapy

|

2015

|

tom 2

|

nr 1

13-20

EN

Exfoliation syndrome is an age-related disorder of the extracellular matrix, characterized by progressive accumulation of abnormal fibrillar material in several ocular and extraocular tissues. Although the exact etiopathogenesis is still unknown, several genetic and environmental factors appear to be involved in disease pathogenesis. Recently, single nucleotide polymorphisms in lysyl oxidase-like 1 have been found to be strongly associated with exfoliation syndrome. Dysregulation of lysyl oxidase-like 1 specifity and activity, an enzyme with a role in tropoelastin cross-linking and elastin homeostasis is thought to be involved in the development of exfoliation syndrome. This review aims to examine the recent genetic findings in the disease process.

PL

Zespół pseudoeksfoliacji to związane z wiekiem zaburzenie macierzy zewnątrzkomórkowej, charakteryzujące się postępującym odkładaniem się nieprawidłowego materiału fibrylarnego w różnych tkankach oka i poza nimi. Dokładna etiopatogeneza choroby pozostaje nieznana, jednak wydaje się, że istnieje kilka czynników genetycznych i środowiskowych w nią zaangażowanych. Niedawno wykazano, że polimorfizmy pojedynczego nukleotydu w obrębie oksydazy lizynowej 1 są silnie powiązane z zespołem pseudoeksfoliacji. Dysregulacja swoistości i aktywności oksydazy lizynowej 1, czyli enzymu odgrywającego rolę w sieciowaniu tropoelastyny i homeostazie elastyny, jest uważana za jeden z czynników rozwoju zespołu pseudoeksfoliacji. Celem niniejszej pracy jest przeanalizowanie najnowszych doniesień dotyczących genetyki wspomnianego procesu chorobowego.

6

THE THEORETICAL UNDERPINNINGS OF A LEARNING DESIGN PROJECT

100%

Cameron L.

Teaching English with Technology

|

2012

|

tom 12

|

nr 2

51-61

EN

In the “Implementing Effective Learning Designs” project a framework and design guidelines were created to provide a comprehensive scaffold to assist academics in the development of inspiring learning design examples and supportive activities. Learning design templates were developed that can be used by academic staff to tailor exemplary examples to meet particular requirements, whilst providing them with the underlying pedagogical principals involved in the learning design. The implementation of learning designs was also explored and barriers identified to their widespread adoption and ways of overcoming these. This paper outlines the theoretical underpinnings that supported the project.

7

Genetic Variation as a Possible Explanation for the Heterogeneity of Pain in Tendinopathy: What can we learn from other pain syndromes?

88%

Mkumbuzi N. S. , Posthumus M. , September A. V. , Collins M.

Central European Journal of Sport Sciences and Medicine

|

2021

|

tom 36

57-72

EN

The mechanisms of pain in tendinopathy are unclear. Current theories implicate tendon structural changes, neovascularisation, inflammation or changes in central pain processing. As with other types of musculoskeletal pain, tendon pain has high interindividual variability and, as with other types of pain, this could be attributed to genetic variation. Notably, the association between certain genetic polymorphisms and susceptibility to tendinopathy is well established in the literature. Therefore, the investigation of the mechanisms of tendon pain should also extend to include genetic variation as a possible explanation for the clinical features of tendon pain. This review summarises the current knowledge on genetic contributors to chronic pain and highlights findings that are relevant to chronic tendon pain. In particular, based on the current hypotheses on the possible sources of tendon pain, it focuses on findings that relate to genes that encode structural connective tissue components, inflammatory markers, ion channels and catecholamines and how they may relate to chronic tendon pain. In the absence of a definitive mechanism of tendon pain, an a priori genetic approach that is guided by these current hypotheses may help elucidate the mechanisms of tendon pain which may allow a more rational approach to research and treatment.

8

Sirt3 regulates the level of mitochondrial DNA repair activity through deacetylation of NEIL1, NEIL2, OGG1, MUTYH, APE1 and LIG3 in colorectal cancer

88%

Kabziński J. , Walczak A. , Mik M. , Majsterek I.

Polish Journal of Surgery

|

2020

|

tom 92(1)

1-4

EN

Colorectal cancer (CRC) is one of the most common malignant tumors. One of the factors increasing the risk of its occurrence may be the reduced efficiency of repairing DNA damage, both nuclear and mitochondrial. The main mechanism for repairing oxidative damage is the BER system (in mitochondria mtBER), whose key proteins NEIL1, NEIL2, OGG1, MUTYH, APE1 and LIG3 obtain full efficiency only at the appropriate level of acetylation. Sirtuin 3 is a key protein for mitochondrial homeostasis, regulating a number of metabolic processes related mainly to the control of the level of reactive oxygen species. Because Sirt3 possesses acetylase activity, it can modulate the level of activity of mtBER proteins by their deacetylation. The conducted study showed that the tested proteins NEIL1, NEIL2, OGG1, MUTYH, APE1 and LIG3 are the substrate for the enzymatic deacetylation activity of Sirt3, which may lead to modulation of the risk of CRC, and in cancer cells may be a potential therapeutic target enhancing the action of cytostatic drugs.

9

Czy Europa zaakceptuje uprawy roślin genetycznie zmodyfikowanych? – argumenty i kontrargumenty

88%

Macewicz J.

Studia Ecologiae et Bioethicae

|

2013

|

tom 11

|

nr 3

87-106

EN

This paper is a review of recent publications dealing with the consequences of the release of genetically modified (GM) crops into the environment. The summary of arguments and for and against is an attempt to summarize the debate in the media. This highly publicized issue, although only one aspect of the conflict between the biotech lobby, environmentalists and consumers. The controversy arises from the fact that neither the benefits nor the risks of GM crops are clearly defined. The study contains a summary of claims that there is a serious potential risk to the environment of positive cultivation of GM crops, with uncertain effects, and that basic manipulation of heredity could have tragic consequences. European scepticism about GM crops increases from year to year. This paper coincides with the Polish government’s introduction of a ban on the cultivation of genetically modified maize and potatoes on Polish territory. In conclusion, while a move away from GM crops is likely, the author argues that ultimately there is no turning back.

10

Inclusion body myositis – pathomechanism and lessons from genetics

75%

Murnyák B. , Bodoki L. , Vincze M. , Griger Z. , Csonka T. , Szepesi R. , Kurucz A. , Dankó K. , Hortobágyi T.

Open Medicine

|

2014

|

tom 10

|

nr 1

EN

Inclusion body myositis is a rare, late-onset myopathy. Both inflammatory and myodegenerative features play an important role in their pathogenesis. Overlapping clinicopathological entities are the familial inclusion body myopathies with or without dementia. These myopathies share several clinical and pathological features with the sporadic inflammatory disease. Therefore, better understanding of the genetic basis and pathomechanism of these rare familial cases may advance our knowledge and enable more effective treatment options in sporadic IBM, which is currently considered a relentlessly progressive incurable disease.

11

Wpływ uwarunkowań genetycznych i czynników środowiskowych na zachorowalność na cukrzycę typu 2

75%

Cecot N. , Boruczkowska B.

Innowacje w Pielęgniarstwie i Naukach o Zdrowiu

|

2020

|

tom 5

|

nr 3

55-68

EN

Admission. Diabetes mellitus is a chronic metabolic disease resulting from disturbed secretion or action of insulin, a hormone produced by the pancreas. It is genetically and multigene conditioned and by environmental factors, mainly obesity, bad eating habits and lack of physical activity. Aim. The aim of this study was to assess the influence of genetic conditions and environmental factors on the incidence of type 2 diabetes. Material and methods. In this work, the survey technique and classic qualitative analysis of documents were used. Research tools are used for the technical collection of data, such as: interview questionnaire, observation sheet, dictaphone, pen, etc. Patients from the CDL Barska Diabetes Clinic in Włocławek participated in the study. The condition was the patient's written consent. Patients received the questionnaire and it was conducted with their consent Results. One of the factors causing complications is alcohol consumption. Most respondents stated that they do not consume alcohol (45%), but a very large proportion of the respondents admitted that they drink alcohol occasionally (44%). Patients indicated that alcohol may induce hypoglycaemia (51%). Most of the respondents answered that alcohol is bad for the treatment of type 2 diabetes (88%). When indicating the type of physical activity, the respondents most often reported walking (48,4%) and cycling (25,8%). Patients admitted that they do physical activity once a week (34%) or not at all (27%). Conclusions. Genetic and environmental factors in the incidence of type 2 diabetes are playing the very important role.

PL

Wstęp. Cukrzyca jest przewlekłą chorobą metaboliczną wynikająca z zaburzonego wydzielania lub działania insuliny – hormonu produkowanego przez trzustkę. Jest ona uwarunkowana genetycznie-wielogenowo oraz poprzez czynniki środowiskowe, głównie otyłość, złe nawyki żywieniowe oraz brak aktywności fizycznej. Cel. Celem niniejszej pracy była ocena wpływu uwarunkowań genetycznych i czynników środowiskowych na zachorowalność na cukrzycę typu 2. Materiał i metody. W niniejszej pracy wykorzystano technikę ankietowania oraz klasyczną jakościową analizę dokumentów. Narzędzia badawcze służą technicznemu gromadzeniu danych i są nimi np.: kwestionariusz ankiety. W badaniu wzięli udział pacjenci Poradni Diabetologicznej CDL Barska we Włocławku. Warunkiem była pisemna zgoda pacjenta. Ankietę otrzymali pacjenci i przeprowadzono ją za ich zgodą. Wyniki. Jednym z czynników powodujących powikłania jest spożywanie alkoholu. Najwięcej badanych stwierdziło, że nie spożywa alkoholu (45%), ale bardzo duża część badanych przyznała, iż spożywa alkohol okazjonalnie (44%). Pacjenci wskazali, że alkohol może wywołać niedocukrzenie (51%). Najwięcej osób odpowiedziało, że alkohol źle wpływa na leczenie cukrzycy typu 2 (88%). Wskazując na rodzaj aktywności fizycznej badani najczęściej podawali spacery (48,4%) oraz jazdę na rowerze (25,8%). Pacjenci przyznali, iż aktywność fizyczną uprawiają raz w tygodniu (34%) lub nie uprawiają wcale (27%). Wnioski. Czynniki genetyczne i środowiskowe w zachorowalności cukrzycy typu 2 odgrywają bardzo ważną rolę.

12

SNARE proteins and schizophrenia: linking synaptic and neurodevelopmental hypotheses

75%

Johnson R. D. , Oliver P. L. , Davies K. E.

Acta Biochimica Polonica

|

2008

|

tom 55

|

nr 4

619-628

EN

Much of the focus of neurobiological research into schizophrenia is based on the concept that disrupted synaptic connectivity underlies the pathology of the disorder. Disruption of synaptic connectivity is proposed to be a consequence of both disrupted synaptic transmission in adulthood and abnormalities in the processes controlling synaptic connectivity during development of the central nervous system. This synaptic hypothesis fits with neurodevelopmental models of schizophrenia and our understanding of the mechanisms of antipsychotic medication. This conceptual model has fostered efforts to define the exact synaptic pathology further. Synaptic proteins are obvious candidates for such studies, and the integral role of the SNARE complex, and SNARE-associated proteins, in synaptic transmission will ensure that it is the focus of much of this research. Significant new insights into the role of this complex are arising from new mouse models of human disease. Here the evidence from both animal and human clinical studies showing that the SNARE complex has a key role to play in the aetiology and pathogenesis of schizophrenia is discussed.

13

Consequences of the loss of the Grainyhead-like 1 gene for renal gene expression, regulation of blood pressure and heart rate in a mouse model

75%

Pawlak M. , Walkowska A. , Mlącki M. , Pistolic J. , Wrzesiński T. , Benes V. , Jane S. , Wesoły J. , Kompanowska-Jezierska E. , Wilanowski T.

Acta Biochimica Polonica

|

2015

|

tom 62

|

nr 2

287-296

EN

Aim: The Grainyhead-like 1 (GRHL1) transcription factor is tissue-specific and is very highly expressed in the kidney. In humans the GRHL1 gene is located at the chromosomal position 2p25. A locus conferring increased susceptibility to essential hypertension has been mapped to 2p25 in two independent studies, but the causative gene has never been identified. Furthermore, a statistically significant association has been found between a polymorphism in the GRHL1 gene and heart rate regulation. The aim of our study was to investigate the physiological consequences of Grhl1 loss in a mouse model and ascertain whether Grhl1 may be involved in the regulation of blood pressure and heart rate. Experimental approach: In our research we employed the Grhl1 "knock-out" mouse strain. We analyzed renal gene expression, blood pressure and heart rate in the Grhl1-null mice in comparison with their "wild-type" littermate controls. Most important results: The expression of many genes is altered in the Grhl1-/- kidneys. Some of these genes have previously been linked to blood pressure regulation. Despite this, the Grhl1-null mice have normal blood pressure and interestingly, increased heart rate. Conclusions: Our work did not discover any new evidence to suggest any involvement of Grhl1 in blood pressure regulation. However, we determined that the loss of Grhl1 influences the regulation of heart rate in a mouse model.

14

Molekularne poskramianie lęków, czyli o płci konstruowanej genetycznie

75%

Derra A.

|

2013

|

nr 1(15)

85–99

EN

The author considers the way contemporary genetics employs the notion of the gene. She studies its history and contemporary senses, being especially interested in how genetics defines sex. She presents the history of seeking for genetically defined masculinity pointing out how it has established oversimplified model of the phenomenon of biological sex. She underlines the role of feminist critiques in developing less narrow-minded views of sex in biology. The author shows that biology and especially genetics has promised to resolve doubts concerning human nature and the nature of sexes. Making this kind of promises can be interpreted as a special way of dealing with human fears which have appeared together with development of contemporary science and modern technologies and its impact on the world. It concerns especially fears of the interventions in natural environment and applications of the results of the research in genetics to medicine, both of which change the society and its values. When genetics has promised to find causal correlations between given genes and organisms’ properties, it was supposed to explain the source of diseases or even human personalities or specific social relations. Unequivocal explanations were needed to calm us down, to reduce fears, to allow us to state that this is how we are „by nature” made. As it turned out genetics was not able to fulfilled these promises for as the author is going to show, its objects of studies are more complex and complicated than the genetics have assumed.

15

Zastosowania cyfrowego przetwarzania sygnałów w biologii molekularnej

63%

Izydorczyk J.

|

2002

|

tom nr 2

92-100

PL

Przedstawiono budowę cząstki DNA oraz własności fizykochemiczne chromosomów bakteryjnych i eukariotycznych. Omówiono metodykę sekwencjonowania DNA. Nakreślono mechanizm ekspresji genów oraz zastosowanie komputerów do poszukiwania genów w poznanych sekwencjach DNA. W szczególności omówiono wykorzystanie dyskretnej transformaty Fouriera w celu wizualizacji własności statystycznych badanych sekwencji DNA, poszukiwania obszarów kodujących białka oraz określenia dla każdego takiego obszaru numeru ramki odczytu.

EN

In the article DNA strain structure is showed with physical and chemical properties of bacteria and eucariota chromosomes. Problem of DNA se- quencing is discussed. Genome expression mechanism is showed with applications of computers to genome investigation. An application of Discrete Fourier Transform to 1) DNA sequence visualization; 2) protein coding DNA regions identification 3) frame number identification is presented.

16

Medykalizacja a genetyzacja: ciągłość czy zmiana?

63%

Domaradzki J.

Przegląd Socjologiczny

|

2017

|

tom LXVI

|

nr 1

9-31

PL

Choć koncepcja medykalizacji należy do kanonów socjologii medycyny, to wraz z rozwojem wiedzy i technologii genetycznych została ona wzbogacona o koncepcję genetyzacji. Wielu badaczy akcentuje bowiem, że w dwudziestym pierwszym wieku genetyka przestała być tylko nauką, a stała się szczególną ideą, sposobem postrzegania świata i ideologią. Pojęcia genetyczne służą wszak wyjaśnianiu zdrowia i choroby, definiowaniu normy, patologii i tożsamości, zaś myślenie w kategoriach genetycznego redukcjonizmu, determinizmu, fatalizmu i esencjalizmu zastępuje inne formy interpretacji zjawisk biologicznych, społecznych i kulturowych. Celem tekstu jest rekonstrukcja koncepcji genetyzacji sformułowanej w latach dziewięćdziesiątych minionego wieku przez kanadyjską badaczkę Abby Lippman. Wychodząc od tezy o medykalizacji, ukazuję jej intelektualne korzenie i główne kierunki badań. Dokonuję także jej krytycznej ewaluacji i podejmuję próbę odpowiedzi na pytanie, czy koncepcja genetyzacji wprowadza istotne novum, czy też powinna być rozumiana jako element szerszego procesu medykalizacji.

EN

Although the concept of medicalization belongs to the classical concepts of medical sociology, the progress of genetic knowledge and the development of new biotechnologies extend its range to include the concept of geneticization. Many authors suggest that in the 21st century genetics has ceased to be a mere science and has become a unique idea, a new way of interpreting the world, where basic genetic notions serve to explain health and disease, define norms, deviances, and identity, while ways of thinking in terms of genetic reductionism, and determinism, fatalism and essentialism replace other forms of interpretations of biological, social and cultural phenomena. Thus, this paper aims to reconstruct the concept of geneticization coined by Abby Lippman in the early 1990s. Beginning with the concept of medicalization it shows its intellectual background and the main fields of research. It also critically evaluates the concept of geneticization and tries to answer whether it brings a new insight into research or whether it should be regarded as part of larger medicalization processes.

17

Atypowa postać mukowiscydozy u 14-letniego chłopca

63%

Stelmach I. , Bal-Gierańczyk K. , Szarkowska M.

Pediatria i Medycyna Rodzinna

|

2016

|

tom 12

|

nr 2

209-213

EN

The diagnosis of cystic fibrosis is based on the occurrence of clinical symptoms and evidence of two mutations in cystic fibrosis transmembrane conductance regulator. However, in cases of atypical cystic fibrosis, not all symptoms may be manifested and not all diagnostic tests may be positive. The World Health Organization has recognised the need for a category that covers patients with atypical (often single organ disease), who may or may not supply evidence for cystic fibrosis transmembrane conductance regulator dysfunction (sweat test) or two cystic fibrosis transmembrane conductance regulator mutations. The aim of this case report is to highlight the difficulties in cystic fibrosis diagnosis in some groups of patients who do not fit in the “gold standard” of the diagnostic scheme. Individuals with atypical cystic fibrosis might only have dysfunction in one organ system and of a much milder degree than those with typical cystic fibrosis. This may be the main reason for a diagnosis and treatment delay.

PL

Rozpoznanie mukowiscydozy opiera się na występowaniu objawów klinicznych oraz obecności dwóch mutacji genu odpowiedzialnego za syntezę błonowego kanału chlorkowego. Jednakże w przypadkach atypowej postaci mukowiscydozy nie wszystkie objawy mogą się ujawniać, a wyniki badań diagnostycznych nie zawsze muszą potwierdzać chorobę. Światowa Organizacja Zdrowia wskazała na potrzebę stworzenia nowej kategorii wśród pacjentów z atypową postacią choroby (często dotyczącą jednego organu), u których przebieg mukowiscydozy nie musi być manifestowany dysfunkcją błonowego kanału chlorkowego (test potowy) oraz obecnością dwóch mutacji genu odpowiedzialnego za jego syntezę. Niniejsza praca ma na celu zwrócenie uwagi na trudności w rozpoznaniu mukowiscydozy u pacjentów, którzy nie spełniają kryteriów diagnostycznych tej choroby – tzw. złotych standardów. Dzieci z atypową postacią mukowiscydozy mogą wykazywać dysfunkcję tylko jednego narządu danego układu, i to w stopniu znacznie łagodniejszym niż u pacjentów z typową postacią mukowiscydozy, co może stanowić główną przyczynę niepowodzeń diagnostycznych i terapeutycznych.

18

Regulation of the genes involved in neurotransmission in Attention Deficit/Hyperactivity Disorder

63%

Cuch B. , Polaczek A. , Idziak M. , Kotuła L. , Maciejewski R. , Madej-Czerwonka B. , Kocki J.

Current Issues in Pharmacy and Medical Sciences

|

2015

|

tom 28

|

nr 2

115-119

EN

Attention Deficit Hyperactivity Disorder is the full name of the disease commonly deemed ADHD. This disease is most frequently diagnosed in childhood, and it affects up to 12 % of all children world-wide. The current clinical criteria (the base for diagnosis) can be found in DSM -V. The core symptoms are divided in three groups: hyperactivity, impulsivity and impaired attention. The aetiology of the disorder is combined, including a wide range of factors, and the genetic, environmental, toxic, perinatal background is taken into account. Because, currently, more and more studies are seeking to explore the heritability of the disorder, the aim of this study is to review the information provided by different research centres which discuss the genetic background of the disease. Herein, we present the results of different studies gathered from the online database. Our findings indicate that the participation of genetic factors within this disorder is supported by family, twin and adoption studies. Indeed, in current literature, researchers estimate that there is a higher risk of developing ADHD among children from families with an ADHD history. Of particular note is that there are some studies indicating particular genes that determine the susceptibility to ADHD. Such studies make mention that most of these genes encode components of the dompaminergic and serotoninergic neurotransmission systems. Researchers in the field, thus, are attempting to link the presence of certain alleles in affected children with their response to treatment. Yet, while ADHD is now considered as being a disorder of genetic background, we cannot indicate a single gene or its mutation that would be crucial in the aetiology and diagnosis. Still, a number of candidate genes have been reported so far.

19

Agenezja trzecich zębów trzonowych

63%

Machorowska-Pieniążek A. , Rojek U. , Krukowska-Drozd O. , Liśniewska-Machorowska B.

Annales Academiae Medicae Silesiensis

|

2010

|

tom 64

|

nr 1-2

22-28

EN

INTRODUCTION Teeth agenesis is the most common teeth developmental anomaly. It mostly aff ects third molars (5-58%). The intensity of this agenesis can be various (from one to four teeth). Hypodontia of third molars can co-exist with other teeth number disturbances. The aim of this study was to fi nd relation between agenesis of third molars and agenesis of other teeth. MATERIAL AND METHODS Medical documentation of 980 patients was analysed. The studied group were patients with absence of one or more third molars as confi rmed radiografi cally. The second condition was to obtain stadium G of germs formation (by Demirijan) by the second lower molars. Patients possessing all four third molars create a control group. Prevalence and type of agenesis in the studied and control group were examined. RESULTS 363 patients were qualifi ed to thestudy, 296 in the control group and 67 in the studied one. The agenesis of 133 third molars were found (62 in the upper jaw and 71 in the lower one). The prevalence of other teeth agenesis in the studied group was 20.9% and concerns mainly the lower second premolars (19.4%), upper (17.9%) and upper lateral incisors (10.5%). The prevalence of other teeth agenesis in the control group was 8.8%. CONCLUSIONS The most frequent form of agenesis was the absence of singular lower third molar. In the studied group prevalence of congenital lack of other teeth was higher than in the control group.

PL

WSTĘP Niedoliczbowość zębów należy do najczęściej występujących wad rozwojowych uzębienia i najczęściej dotyczy trzecich zębów trzonowych (5-58%). Agenezja tych zębów ma różne nasilenie i może współistnieć z innymi nieprawidłowościami liczby zębów. Celem podjętych badań było ustalenie zależności między agenezją trzecich zębów trzonowych a agenezją innych zębów. MATERIAŁ I METODY Przeanalizowano dokumentację medyczną 980 osób. Grupę badawczą stanowili pacjenci, u których stwierdzono agenezję trzecich zębów trzonowych przy jednoczesnym osiągnięciu przez drugi dolny stały ząb trzonowy stadium rozwoju „G” wg Demirijana. Pacjenci, u których obecne były zawiązki wszystkich trzecich zębów trzonowych, stanowili grupę kontrolną. Zbadano częstość i rodzaj niedoliczbowości zębów w grupie badawczej i kontrolnej. WYNIKI Do badań zakwalifi kowano 363 pacjentów: 296 do grupy kontrolnej, a 67 do grupy badawczej. Ujawniono agenezję 133 trzecich zębów trzonowych, w tym 62 górnych i 71 dolnych. U 20,9% pacjentów z agenezją trzecich zębów trzonowych występowały braki zawiązków innych zębów, wśród których dominowały braki zawiązków drugich zębów przedtrzonowych dolnych (19,4%) i górnych (17,9%) oraz górnych siekaczy bocznych (10,5%). W grupie kontrolnej niedoliczbowość zębów wyniosła 8,8%. WNIOSKI Agenezja najczęściej dotyczyła pojedynczego dolnego trzeciego zęba trzonowego. W grupie badawczej częstość agenezji pozostałych zębów była wyższa niż w grupie kontrolnej.

20

Strategia badania mechanizmu dezaktywacji metali przez rośliny. Cz. II: Genomika i specjacja bionieorganiczna "za pan brat"

63%

Pawlak K. , Ruzik R. , Lipiec E. , Ciurzyńska M. , Gawrońska H.

|

2007

|

tom nr 1

20-23