From epidemiology to function

Arterial hypertension is the most prevalent risk factor for cardiovascular disorders. Most cases of hypertension are due to unknown etiology, with only 5-15 per cent being secondary effects. Primary aldosteronism (PA) is the single most prevalent form of secondary hypertension, and is defined by autonomous aldosterone secretion independent of the plasma renin activity. Routine usage of aldosterone to renin ratio (ARR) for screening PA has revealed greater prevalence of the disorder, especially in resistant or advanced forms of arterial hypertension. The two most common causes of PA are aldosterone producing adenomas (APA) and bilateral adrenal hyperplasia (BAH). Rare Mendelian forms of familial hyperaldosteronism are also described. Until recently, genetic background of only glucocorticoid-remediable familial PA was elucidated in detail. Utilization of the exome sequencing techniques since 2011 identified somatic mutations in the cation transporter genes KCNJ5, ATP1A1, ATP2B3 and CACNA1D as the causative factors for circa 50 % of APAs. The underlying genetic causes of BAH cases remain to be determined. Genome-wide association studies (GWAS) have been the predominant methodology in genetic epidemiological research in the past ten years, under the hypothesis of “common disease – common variant”. Its prevalent application identified many risk loci, containing targets for functional investigation. In this study ARR was used as a phenotypic parameter in a GWAS in the German KORA-F4 cohort of 1876 individuals, leading to genome-wide significance of a locus in chromosome 5q32. The four genes in this locus (SLC26A2, TIGD6, HMGXB3 and CSF1R) were evaluated by their known characteristics and functions, and functional studies investigating their relevance to aldosterone biosynthesis and function were carried out for SLC26A2 and CSF1R. SLC26A2, a ubiquitously expressed solute carrier with mainly sulfate, oxalate and chloride affinities, was found to be co-regulated with aldosterone production in vivo and in vitro. RNA interference in a model adrenocortical cell line resulted in significantly higher rate of aldosterone production and aldosterone synthase expression, as well as increased overall steroidogenic capacity. Subsequent studies identified calcium signaling dependent pathways as the mediator of this effect. A germline SLC26A2 knock-in mouse model also showed confirmatory endocrine and adrenal phenotype in a sex-specific manner, with elevated plasma aldosterone concentration and ARR in females. The evidence derived from these findings suggests a possible role of SLC26A2 function in the pathophysiology of PA, which requires further epidemiological and functional experiments to confirm and elucidate.Die arterielle Hypertonie gilt als wichtigster Risikofaktor für kardiovaskuläre Erkrankungen. Während in den meisten Fällen eine essentielle Hypertonie angenommen werden kann, liegt in 5-15 % der Patienten dem Bluthochdruck eine andere Erkrankung zugrunde. Mit dem Einsatz des Aldosteron-Renin-Quotienten (ARQ) konnte der primäre Hyperaldosteronismus als die häufigste Form des sekundären Bluthochdrucks eingeordnet werden. Die beiden häufigsten Ursachen des primären Hyperaldosteronismus sind das Aldosteron-produzierende Adenom (APA) und die beidseitige Nebennierenrindenhyperplasie (BAH). Monogenetische, familiäre Formen sind hingegen insgesamt sehr selten. Mit dem Einsatz moderner Sequenziertechniken konnten seit 2011 somatische Mutationen in Ionenkanälen und Transportern (KCNJ5, ATP1A1, ATP2B3 und CACNA1D) in etwa 50 % der APAs identifiziert werden. Die genetische Ursachen der BAH sind dagegen in der überwiegenden Mehrzahl der Fälle unbekannt. Unter der “common disease – common variant” Hypothese sind Genomweite Assoziationsstudien (GWAS) in den letzten zehn Jahren zur vorherrschenden Methode der genetischen epidemiologischen Forschung geworden. Ihr weit verbreiteter Einsatz hat zur Identifizierung vieler genetischer Risiko-Loci geführt, die dann funktionellen Untersuchungen zugeführt werden konnten. In der vorliegenden Arbeit wurde der ARQ als phänotypische Parameter in einer GWAS der deutschen KORA-F4 Kohorte von 1.876 Personen verwendet. Hierdurch fand sich eine genomweite Signifikanz eines Locus auf Chromosom 5q32. Die vier in diesem Locus enthaltenen Gene (SLC26A2, TIGD6, HMGXB3 und CSF1R) wurden anhand bekannter Eigenschaften und Funktionen eingeordnet und weitergehende funktionelle Studien für SLC26A2 und CSF1R durchgeführt. Für SLC26A2 – einem Transporter mit bekannten Affinitäten zu Sulfat, Oxalat und Chlorid - konnte in vivo und in vitro eine gemeinsame Regulation der adrenalen Expression mit Aldosteron gefunden werden. Ein knock-down von SCL26A2 in einem in vitro Modell durch siRNA führte zu einer relevanten Erhöhung der Aldosteron-Sekretion und transkriptionellen Veränderungen des Steroidbiosynthese-Apparats. Weitergehenden Untersuchungen identifizierten vor allem Kalzium-abhängige Signalkaskaden als für diesen Effekt ursächliche Mechanismen. In einem Slc26a2 knock-in Mausmodell konnten geschlechtsabhängig ein entsprechender endokriner Phänotyp mit einem erhöhten ARQ nachgewiesen werden. Zusammengenommen ergeben sich aus diesen Untersuchungen gute Hinweise für einen Einfluss von SLC26A2 in der Regulation der Aldosteronsekretion und in der Pathophysiologie des primären Hyperaldosteronismus. Weitere funktionelle, epidemiologische und genetische Untersuchungen werden notwendig sein, diese Ergebnisse weiter zu vertiefen und in ihrer potentiellen klinischen Wertigkeit einzuordnen

A sample for biodiversity in Turkey: Common bean (Phaseolus vulgaris L.) landraces from Artvin

Artvin province located in north-east region of Turkey is small province but has rich plant diversity due to its different geographical and ecological formation. Significant part of this province has been flooded by the dams which have been built. The common bean is a very important crop for Artvin’s farmers. This study was carried out with the aim of determining and preserving the characteristics of domestic bean varieties grown in Artvin. Common bean seeds were collected from 279 locations in 74 villages in seven districts of the province. These seeds were allocated to 400 sample groups according to their shapes and colors. Eleven monocolored and 21 dicolored or polycolored seed groups were determined. Majority of the seed were subcompressus type seeds. The samples in the 1st group were ranked first in terms of size index. Considering the 100 seed weight, 64.68% of the population was found between 25 to 40 g; 30.69% of the population was higher than 40 g. By the advantage of having big variation of all characters, landraces of bean varieties grown in Artvin Province have a rich genetic source that can be used in breeding programs.Key words: Common bean, landraces, seed shape, seed color, Turkey

Assessment of the Ethical Orientations of Turkish Teachers

Students’ development in terms of values, moral education and character is crucial for the culture of any society. Considering that these are gained through family and school, school principals and teachers can be the key players.  Even if teachers do not deliberately act as models or ethic agents, or their main purpose is not merely ethical education, they still affect the students directly and indirectly. Therefore, exploration of their ethical decisions and what orientations guide them in making those ethical decisions is highly important. In this regard, teachers’ ethical orientation is worth measuring. In this study, Ethical Position Questionnaire [1], which has so far been commonly used to explore ethical orientations of a variety of professionals and cultural groups was translated into Turkish; and validity and reliability study was applied on teachers. Research group consisted of 251 primary school teachers working in state schools located in Kocaeli province, Turkey. To identify the construct validity of Ethical Position Questionnaire (EPQ), factor analysis was conducted. The analysis revealed that EPQ is two factor-structured and these factors explain 45% of the variance. Cronbach’s Alpha internal consistency reliability assessed for the total items of Turkish version of EPQ was .81 and for the first subscale –idealism-, for the second scale –relativism- was found .84 and .86 respectively. In conclusion, The Turkish version of Ethical Position Questionnaire was identified as a valid and reliable research tool to assess ethical positions of primary school teachers

From epidemiology to function

Arterial hypertension is the most prevalent risk factor for cardiovascular disorders. Most cases of hypertension are due to unknown etiology, with only 5-15 per cent being secondary effects. Primary aldosteronism (PA) is the single most prevalent form of secondary hypertension, and is defined by autonomous aldosterone secretion independent of the plasma renin activity. Routine usage of aldosterone to renin ratio (ARR) for screening PA has revealed greater prevalence of the disorder, especially in resistant or advanced forms of arterial hypertension. The two most common causes of PA are aldosterone producing adenomas (APA) and bilateral adrenal hyperplasia (BAH). Rare Mendelian forms of familial hyperaldosteronism are also described. Until recently, genetic background of only glucocorticoid-remediable familial PA was elucidated in detail. Utilization of the exome sequencing techniques since 2011 identified somatic mutations in the cation transporter genes KCNJ5, ATP1A1, ATP2B3 and CACNA1D as the causative factors for circa 50 % of APAs. The underlying genetic causes of BAH cases remain to be determined. Genome-wide association studies (GWAS) have been the predominant methodology in genetic epidemiological research in the past ten years, under the hypothesis of “common disease – common variant”. Its prevalent application identified many risk loci, containing targets for functional investigation. In this study ARR was used as a phenotypic parameter in a GWAS in the German KORA-F4 cohort of 1876 individuals, leading to genome-wide significance of a locus in chromosome 5q32. The four genes in this locus (SLC26A2, TIGD6, HMGXB3 and CSF1R) were evaluated by their known characteristics and functions, and functional studies investigating their relevance to aldosterone biosynthesis and function were carried out for SLC26A2 and CSF1R. SLC26A2, a ubiquitously expressed solute carrier with mainly sulfate, oxalate and chloride affinities, was found to be co-regulated with aldosterone production in vivo and in vitro. RNA interference in a model adrenocortical cell line resulted in significantly higher rate of aldosterone production and aldosterone synthase expression, as well as increased overall steroidogenic capacity. Subsequent studies identified calcium signaling dependent pathways as the mediator of this effect. A germline SLC26A2 knock-in mouse model also showed confirmatory endocrine and adrenal phenotype in a sex-specific manner, with elevated plasma aldosterone concentration and ARR in females. The evidence derived from these findings suggests a possible role of SLC26A2 function in the pathophysiology of PA, which requires further epidemiological and functional experiments to confirm and elucidate.Die arterielle Hypertonie gilt als wichtigster Risikofaktor für kardiovaskuläre Erkrankungen. Während in den meisten Fällen eine essentielle Hypertonie angenommen werden kann, liegt in 5-15 % der Patienten dem Bluthochdruck eine andere Erkrankung zugrunde. Mit dem Einsatz des Aldosteron-Renin-Quotienten (ARQ) konnte der primäre Hyperaldosteronismus als die häufigste Form des sekundären Bluthochdrucks eingeordnet werden. Die beiden häufigsten Ursachen des primären Hyperaldosteronismus sind das Aldosteron-produzierende Adenom (APA) und die beidseitige Nebennierenrindenhyperplasie (BAH). Monogenetische, familiäre Formen sind hingegen insgesamt sehr selten. Mit dem Einsatz moderner Sequenziertechniken konnten seit 2011 somatische Mutationen in Ionenkanälen und Transportern (KCNJ5, ATP1A1, ATP2B3 und CACNA1D) in etwa 50 % der APAs identifiziert werden. Die genetische Ursachen der BAH sind dagegen in der überwiegenden Mehrzahl der Fälle unbekannt. Unter der “common disease – common variant” Hypothese sind Genomweite Assoziationsstudien (GWAS) in den letzten zehn Jahren zur vorherrschenden Methode der genetischen epidemiologischen Forschung geworden. Ihr weit verbreiteter Einsatz hat zur Identifizierung vieler genetischer Risiko-Loci geführt, die dann funktionellen Untersuchungen zugeführt werden konnten. In der vorliegenden Arbeit wurde der ARQ als phänotypische Parameter in einer GWAS der deutschen KORA-F4 Kohorte von 1.876 Personen verwendet. Hierdurch fand sich eine genomweite Signifikanz eines Locus auf Chromosom 5q32. Die vier in diesem Locus enthaltenen Gene (SLC26A2, TIGD6, HMGXB3 und CSF1R) wurden anhand bekannter Eigenschaften und Funktionen eingeordnet und weitergehende funktionelle Studien für SLC26A2 und CSF1R durchgeführt. Für SLC26A2 – einem Transporter mit bekannten Affinitäten zu Sulfat, Oxalat und Chlorid - konnte in vivo und in vitro eine gemeinsame Regulation der adrenalen Expression mit Aldosteron gefunden werden. Ein knock-down von SCL26A2 in einem in vitro Modell durch siRNA führte zu einer relevanten Erhöhung der Aldosteron-Sekretion und transkriptionellen Veränderungen des Steroidbiosynthese-Apparats. Weitergehenden Untersuchungen identifizierten vor allem Kalzium-abhängige Signalkaskaden als für diesen Effekt ursächliche Mechanismen. In einem Slc26a2 knock-in Mausmodell konnten geschlechtsabhängig ein entsprechender endokriner Phänotyp mit einem erhöhten ARQ nachgewiesen werden. Zusammengenommen ergeben sich aus diesen Untersuchungen gute Hinweise für einen Einfluss von SLC26A2 in der Regulation der Aldosteronsekretion und in der Pathophysiologie des primären Hyperaldosteronismus. Weitere funktionelle, epidemiologische und genetische Untersuchungen werden notwendig sein, diese Ergebnisse weiter zu vertiefen und in ihrer potentiellen klinischen Wertigkeit einzuordnen

Upstream structural management measures for an urban area flooding in Turkey

In recent years, flooding has become an increasing concern across many parts of the world of both the general public and their governments. The climate change inducing more intense rainfall events occurring in short period of time lead flooding in rural and urban areas. In this study the flood modelling in an urbanized area, namely Samsun-Terme in Blacksea region of Turkey is performed. MIKE21 with flexible grid is used in 2-dimensional shallow water flow modelling. 1 x 1000(-1) scaled maps with the buildings for the urbanized area and 1 x 5000(-1) scaled maps for the rural parts are used to obtain DTM needed in the flood modelling. The bathymetry of the river is obtained from additional surveys. The main river passing through the urbanized area has a capacity of 500 m(3) s(-1) according to the design discharge obtained by simple ungauged discharge estimation depending on catchment area only. The upstream structural base precautions against flooding are modelled. The effect of four main upstream catchments on the flooding in the downstream urban area are modelled as different scenarios. It is observed that if the flow from the upstream catchments can be retarded through a detention pond constructed in one of the upstream catchments, estimated Q(100) flood can be conveyed by the river without overtopping from the river channel. The operation of the upstream detention ponds and the scenarios to convey Q(500) without causing flooding are also presented. Structural management measures to address changes in flood characteristics in water management planning are discussed

My diary: the practice of life as a work of art

The thesis analyzes the circumstances by which the everyday is transformed into an object of art through the author's practice and art project ''Make My Day'' and cases studies of works from Tracey Emin, Sophie Calle and Rirklit Tiravanija, in order to identify the process of aestheticization of life, then how to exhibit a work of art that is produced by this process. Starting from cases studies from Tracey Emin's ''My Bed'' and Sophie Calle ''Double Game'' along with the work of the author, the thesis will analyze the process the aestheticization of everyday life on how the real life of the artists effects and empowers their works, proceed on to analyze how the act of living is offered as a medium to produce a work of art and why interactivity and the persona of the artist are fundamental for the aestheticization of the act of living. Identifying the process to aestheticize the everyday, the thesis will move on to research how an interactive work of art that derives from this process should be exhibited by analyzing the exhibited works from Sophie Calle's ''Take Care of Yourself'', Tracey Emin's ''Exorcism of the last painting I ever made'', Rirklit Tiravanija's ''Untitled (Free)'' and Batu Bozoglu's ''Make My Day'' to found out and propose in what conditions can an exhibition meet a satisfying result where the elements of interactivity, and social exchange that conveys the artist’s persona to the work can be reached, concluding by stating that open interactivity that permanently reflects the participant’s effects on the work and the presence of the artist in the exhibition space as the necessary needs of the situation

Expressed Willingness of STEM Teachers to Teach Engineering

Teaching engineering at the middle and high school levels has been a topic of discussion among scholars regarding the challenges it creates. One of the most critical challenges at the school level is identifying qualified teaching staff to lead engineering courses. The present study explored teachers’ willingness to lead an engineering course and the reasons behind their willingness or unwillingness to do so. The study involved 434 participants, who were enrolled in a STEM professional development program and were diverse regarding their teaching subjects, the grade levels they taught, and the locations of their schools in Turkey. In this mixed-methods study, researchers collected data at the beginning of an online professional development program. Quantitative data were analyzed descriptively, while qualitative data were analyzed with a data-driven codebook. Almost two-thirds of the participants were keen to teach an engineering course, yet differences were observed according to the subjects they taught and their professional backgrounds. Most of the mathematics teachers, the group with the highest percentage of willingness, seemed to have a holistic approach towards engineering, with half emphasizing collaboration between teachers and engineers. The study provided further insights into how initial teacher training and continuous professional development programs can be structured based on teacher expectations and needs

Mitochondrial DNA deletions in patients with esophagitis, Barrett’s esophagus, esophageal adenocarcinoma and squamous cell carcinoma

Background: Esophageal cancer is the eighth most common cancer globally. Esophageal adenocarcinoma (EA) and esophageal squamous-cell carcinoma (ESCC) are the two major types of esophageal cancer with poor prognosis. The mechanisms of the progression of normal esophagus to Barrett’s esophagus (BE) and EA are not fully understood. Mitochondria play a central role in generating energy, apoptosis and cell proliferation. Mutations of mitochondrial DNA (mtDNA) have been identified in many diseases including cancers. Mutations of mtDNA were investigated as a part of carcinogenesis.Objective: Our objective is to study whether the 5 kb and 7.4 kb mtDNA deletions are important in the progression of normal esophagus to BE and EA.Method: In this study, the frequency of the 5 kb and 7.4 kb deletions in mtDNA were studied in specimens ranging from nor- mal esophageal tissue to BE and EA and also from ESCC. Seventy six paraffin-embedded tissue samples were studied. Four couple primers were used.Results: Seventy-six tissue samples were analyzed total. The negative control and the positive control PCR product were detect- ed in all analyzed samples. The fusion PCR products, which represent the presence of the deletions, were not detected in any of the samples.Conclusion: We can say that, these deletions are not associated with progression of normal esophagus to BE and EA and they do not have an important role in detecting esophagitis, BE, EA, and ESSC.Keywords: Barrett's esophagus, esophageal cancer, mitochondrial DNA, 4977 bp, 7400 bp

An elderly diabetic case of ochronosis with depression and chronic pain

Alkaptonuria (ochronosis) is a rare autosomal recessive disorder featuring a genetic error in the amino acid metabolism. A defect in the tyrosine metabolism results in the accumulation and deposition of homogentisic acid in connective tissue, causing a blue-black discolouration. Degenerative arthropathy of the spine, knee, and hip are common signs of ochronosis in older age. An association between ochronosis and depression has not previously been discussed in the literature. This case report describes a 69 year-old woman with diabetes mellitus, ochronosis, depression and chronic pain. (Pol J Endocrinol 2010; 61 (6): 710-713)Alkaptoniuria (ochronoza) jest rzadką, dziedziczoną w sposób autosomalny recesywny chorobą metaboliczną, która polega na genetycznym defekcie przemiany aminokwasu, tyrozyny. Defekt ten powoduje gromadzenie się i odkładanie kwasu homogentyzynowego w tkance łącznej powodujące jej niebiesko-czarne zabarwienie. Częstymi objawami ochronozy w starszym wieku są zmiany zwyrodnieniowe stawów kręgosłupa, kolan i bioder. W bibliografii nie znaleziono opracowań dotyczących związku między ochronozą i depresją. Niniejszy opis przedstawia przypadek 69-letniej kobiety cierpiącej z powodu ochronozy, depresji i przewlekłego bólu. (Endokrynol Pol 2010; 61 (6): 710-713