102 research outputs found

    Migrationshintergrund und psychosoziales Wohlbefinden

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    Im Zuge dieser empirischen Untersuchung unter in Wien lebenden Frauen der „2. Generation“ mit Migrationshintergrund aus der Türkei wurde der Frage nachgegangen, welche Auswirkungen der Migrationshintergrund auf das psychosoziale Wohlbefinden dieser Frauen hat. Anhand der Ergebnisse von Expertinneninterviews sowie theoriegeleiteten Überlegungen zu möglichen Einflussfaktoren in Bezug auf verschiedene Aspekte von psychosozialen Auswirkungen im Kontext des Migrationshintergrundes erfolgte eine Online-Mehrthemenbefragung mit einer Stichprobe von 44 Frauen, welche Aufschluss über Rahmenbedingungen der Lebenssituation, Bedingungen für psychosoziales Wohlbefinden (analysiert in Abhängigkeit von Sozialisationsprozessen im Familienkontext sowie Identitäten- und Zugehörigkeitskonstruktionen) sowie Bewältigungsstrategien in psychosozialen Konfliktlagen geben soll. Die Ergebnisse der Befragung wurden mittels statistischer Verfahren analysiert. Des Weiteren wurden Hypothesen in Bezug auf Zusammenhänge und Einflussfaktoren auf Aspekte und Faktoren des psychosozialen Wohlbefindens im Kontext des Migrationshintergrundes aufgestellt und überprüft. Psychosoziales Wohlbefinden wird hier als positive Befindlichkeit verstanden, welche durch körperliche, psychische und soziale Faktoren beeinflusst wird. Als Zentral in der Auseinandersetzung mit dem Migrationshintergrund wurde die Prozesshaftigkeit von Migration betrachtet, welche Einfluss auf die Lebensgestaltung von Frauen mit Migrationshintergrund, nimmt. Die Beschäftigung mit diesem Themenkomplex erfolgt im Rahmen einer inter- und transdisziplinären Forschungsperspektive unter Einbeziehung von Ansätzen der Migrationsforschung (Transkulturalität), der Medical Anthropology, der Sozialisationsforschung und der Ethnopsychoanalyse. Es zeigte sich, dass diese Frauen – entgegen der in der Literatur weitgehend vertretenen stereotypen Darstellung besonderer psychischer Belastung aufgrund der Herausforderung „zwischen zwei Kulturen“ zu stehen – eine weitgehende psychische Stabilität, geringe Belastungsempfindungen aufgrund des Migrationshintergrundes anführen und ein überwiegend positives Gesundheitsverhalten darlegen.The main research question guiding this empirical study conducted among women of the second generation with migration background from Turkey living in Vienna was: In which ways does migration background affect the psychosocial well-being of these women? Based on the main results and outcomes of expert interviews, as well as theoretical considerations on possible factors regarding various aspects of psychosocial outcomes in the context of migration background, an online multiple-topic survey was conducted among a sample of 44 women. The survey provided information on their living situation, the conditions of their psychosocial well-being (analysed in relation to socialization processes in the family, as well as constructions of identity and belonging) and coping strategies in psychosocial conflict situations. The results of the investigation were evaluated and analysed by means of statistical procedures. Furthermore, hypotheses with regard to relevant associations and factors that might influence aspects and factors in the context of migration background were put forward and examined. Psychosocial well-being is understood here as a positive state of being which encloses physical, psychological and social factors. Central to my analysis of migration background was the processuality of migration, which has an influence on the life of women with migration background. This complex subject is addressed by means of an interdisciplinary and trans-disciplinal research perspective, including theoretical approaches of migration research (transculturalism), medical anthropology, socialisation research and ethno psychoanalysis. This study reveals that these women, contrary to the stereotypical representation widely spread in literature of being burdened in physical terms by the challenge of standing between two cultures, experience extensive mental stability, low levels of strain on account of their migration background and demonstrate a predominantly positive health behaviour

    Effects of the ATP-dependent K (+)-channel effectors pinacidil and glibenclamide on liver tissue in an experimental model of epilepsy: A histopathological study

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    Aim: It is known that most of the antiepileptic drugs have negative effects on the liver. Pinacidil is a nonselective opener of KATP channels, including the plasma membrane and mitochondria.  Glibenclamide is an ATP -dependent K channel blocker ensuring the intake of calcium. Our aim in this experimental study was to examine the effects of pinacidil and glibenclamide on the liver tissue of rats with focal epilepsy. Method: Sixty male Sprague Dawley rats (2-4 months old, 200-250 gr) were used in the study. The rats were divided into 4 groups, 15 in each group. The groups were divided into control group, penicillin group, penicillin + pinacidil group and penicillin + glibenclamide group. The craniums of the rats in the control group were opened and normal saline was given; Penicillin (2 µl 500 IU) was intracortically administered to other groups and an experimental epilepsy model was created. At the end of the study, liver tissue of rats was taken and evaluated in terms of vacuolar degeneration, lymphocyte infiltration, vascular congestion, sinusoidal dilatation, necrosis, and Kupffer cell proliferation, radial alignment of hepatic cords, central vein and portal vein dilatation in hepatocytes. Results: Venous congestion, cytoplasmic vacuolization, Kupffer cell proliferation, portal vein dilatation and necrosis were distinct in the group to which pinacidil was administered, and distortion was present in the radial sequence (p<0.001).  In addition, inflammation, venous congestion and hepatocyte necrosis were found to be lower in the glibenclamide given group compared to the control group (p<0.001). Conclusion: It can be suggested that pinacidil treatment caused negative results in liver histopathological parameters, whereas glibenclamide was more protective by reducing inflammation, venous congestion and hepatocyte necrosis

    Genetic Diagnosis of Hereditary Hemorrhagic Telangiectasia: Four Novel Pathogenic Variations in Turkish Patients

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    Aims: Hereditary hemorrhagic telangiectasia is an autosomal dominant disorder characterized by telangiectasia, epistaxis, and vascular malformations. Pathogenic mutations were found in ENG, AVCRL1, SMAD4, and GDF genes. In this study, we present our database of patients with hereditary hemorrhagic telangiectasia regarding the phenotype-genotype relations and discuss two novel ENG gene pathogenic variations in two unrelated families. Methods: Next Generation Sequencing analysis was performed on the peripheral blood of nine patients with hereditary hemorrhagic telangiectasia in four unrelated families. All patients were diagnosed with hereditary hemorrhagic telangiectasia according to the Curaçao criteria. Data on treatment and screenings of visceral involvement were recorded from files. Results: We have found a pathogenic variation in either the ENG or ACVRL1 gene in each family. Two novel pathogenic variations in the ENG gene, including NM_000118.3 (ENG): c.416delC (p.P139fs*24) and NM_000118.3(ENG): c.1139dupT (p.Leu380PhefsTer16), were found in the same family. The NM_000020.2(ACVRL1): c.1298C>T (p.Pro433Leu) pathogenic variation in the ACVRL1 gene in our first family and a novel heterozygous likely pathogenic NM_000020.2(ACVRL1): c.95T>C (p.Val32Ala) variation was found in our second family. Seven of the nine patients were treated with thalidomide for controlling bleeding episodes. All patients responded to thalidomide. In one patient, the response to thalidomide was lost and switched to bevacizumab. Conclusion: In hereditary hemorrhagic telangiectasia, certain types of mutations correlate with disease phenotypes and with next generation sequencing methods. New pathogenic variations can be revealed, which might help manage patients with hereditary hemorrhagic telangiectasi

    Effective Use of Next Generation Sequencing For Genetic Diagnosis of a Patient With a Mosaic Tsc2 Variant

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    DergiPark: 439216tmsjAims: Tuberous sclerosis complex is a genetic disorder characterized by mutations in Tuberous Sclerosis Complex 1 (* 605284) or Tuberous Sclerosis Complex 2 (* 191092) genes. PALB2 (* 610355) gene has long been known to be associated with increased breast and pancreatic cancer risk. Its association with risk of stomach and lung cancers has also been established recently. In this case report, it is aimed to present a case of a 24-year-old female patient, who has been diagnosed with both novel mosaic Tuberous Sclerosis Complex 2 pathogenic variation and pathogenic PALB2 variation at the same time. Case Report: A 24-year-old female patient was admitted to Trakya University Genetic Diseases Center with suspected tuberous sclerosis complex. Her primary complaints were a continuous headache and fatigue. She had no history of convulsion and seizure. There were bilateral facial angiofibromas around her nose. When genomic DNA was isolated, both novel mosaic Tuberous Sclerosis Complex 2 pathogenic variation and pathogenic PALB2 variation were observed. Conclusion: This case report shows that in cancer predisposing syndromes, Next-generation sequencing is a powerful technique to portrait a detailed genetic profile of patient, investigating for any mosaicism or other risk allele

    Yeni bir TSH reseptör aktive edici mutasyon ile ilişkili ailevi hipertiroidi: Beş vaka takdimi

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    Familial non-autoimmune hyperthyroidism, a rare disorder that results from activating germline mutations in the TSH receptor gene, is inherited in an autosomal dominant fashion and has a variable age at onset. Here, we present a family, five members of which were determined to have non-autoimmune hyperthyroidism. Levels of free T3 and free T4 were high and TSH suppressed in two siblings aged 12 and 16, who were admitted due to failure to gain weight and swollen necks. Thyroid autoantibodies were negative and thyroid ultrasonography demonstrated no nodules. A similar situation was detected in their father and two other siblings, none of whom had remarkable complaints. A novel heterozygous missense mutation (c.1906T>A) in the 10th exon of the TSH receptor gene was found in the affected cases. Treatment with methimazole and propranolol was initiated in all cases. During follow-up, one case underwent total thyroidectomy, and radioactive iodine treatment was administered to another. Gain-of-function germline mutations in the TSH receptor should be considered in cases of hyperthyroidism not associated with autoimmune thyroid disease, and family screening, including asymptomatic individuals, should be done

    Main Genome Editing Tools: An Overview of the Literature, Future Applications and Ethical Questions

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    DergiPark: 962870tmsjThe popularity of genome editing technologies in the scientific community has been on the rise for several years. These technologies are slowly becoming a ray of hope for many patients with genetic diseases, thanks to their immense potential for clinical application. New genome editing tools are being rap- idly developed and introduced, while pre-existing ones are being perfected. In the process beginning with the completion of the Human Genome Project to the first clinical trials focusing on cancer immunotherapy and treating blindness, studies on genome editing have increased exponentially. The clustered regularly interspaced short palindromic repeats system is a Nobel Prize-winning genome editing tool celebrated by many researchers and is often praised due to its ease of use, low cost, and efficiency compared to other acknowledged genome editing tools. This review aims to discuss the historical development, working mechanisms, present and future clinical applications of zinc-finger nucleases, transcription activator-like effector nucleases, clustered regularly inter- spaced short palindromic repeats, and prime editors, while presenting the ethical aspects of using these genome editing tools. Keywords: Zinc-finger nucleases, transcription activator-like effector nucleases, clustered regularly interspaced short palindromic repeats, gene editin

    Germline Pathogenic Variants Identified by Targeted Next-Generation Sequencing of Susceptibility Genes in Pheochromocytoma and Paraganglioma

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    The aim of this study was to evaluate germline variant frequencies of pheochromocytoma and paraganglioma targeted susceptibility genes with next-generation sequencing method. Germline DNA from 75 cases were evaluated with targeted next-generation sequencing on an Illumina NextSeq550 instrument. KIF1B, RET, SDHB, SDHD, TMEM127, and VHL genes were included in the study, and Sanger sequencing was used for verifying the variants. The pathogenic/likely pathogenic variants were in the VHL, RET, SDHB, and SDHD genes, and the diagnosis rate was 24% in this study. Three different novel pathogenic variants were determined in five cases. This is the first study from Turkey, evaluating germline susceptibility genes of pheochromocytoma and paraganglioma with a detection rate of 24% and three novel variants. All patients with pheochromocytoma and paraganglioma need clinical genetic testing with expanded targeted gene panels for higher diagnosis rates

    Skin manifestations following anti-COVID-19 vaccination: A multicentricstudy from Turkey

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    Purpose: After the emergence of the pandemic caused by the COVID-19 virus, vaccination with various vaccines has started to be implemented across the world. To identify dermatological reactions developing after the COVID-19 vaccines administered in Turkey and determine their clinical features and risk factors that may play a role in their development. Materials and Methods: The study included patients aged ≥18 years, who presented to 13 different dermatology clinics in Turkey between July 2021 and September 2021 after developing dermatological reactions following the administration of the COVID-19 vaccine. After providing written consent, the patients were asked to complete a standard survey including questions related to age, gender, occupation, comorbidities, the regular medication used, the onset of cutaneous reactions after vaccination, and localization of reactions. Dermatological reactions were categorized according to whether they developed after the first or second dose of the vaccine or whether they occurred after the inactivated or messenger RNA (mRNA) vaccine. The relationship between dermatological reactions and some variables such as gender and comorbidities was also evaluated. Results: A total of 269 patients [116 women (43.1%), 153 men (56.9%)] were included in the study. It was observed that the dermatological diseases and reactions that most frequently developed after vaccination were urticaria (25.7%), herpes zoster (24.9%), maculopapular eruption (12.3%), and pityriasis rosea (4.5%). The rate of dermatological reactions was 60.6% after the administration of the mRNA vaccine and 39.4% after that of the inactivated vaccine. There was a statistically significantly higher number of reactions among the patients that received the mRNA vaccine (p = 0.001). Conclusion: The most common reactions in our sample were urticaria, herpes zoster, and maculopapular eruption. Physicians should know the dermatological side effects of COVID-19 vaccines and their clinical features

    Patient use of complementary and alternative medicine for psoriasis vulgaris and factors believed to trigger the disease: A multicenter cross-sectional study with 1621 patients

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    Introduction: Due to the chronic recurrent nature of psoriasis vulgaris (PV) and lack of definitive treatment for the disease, patients often resort to alternative treatments. Physicians seem to have low awareness of this issue. Objectives: To elicit the perceptions of 1,621 PV patients on complementary and alternative medicine (CAM) and examine factors reported to worsen PV. Methods: The patients sociodemographic characteristics, Psoriasis Area Severity Index (PASI), Dermatology Life Quality Index (DLQI), disease duration, and severity were recorded, and the patients CAM use was questioned in detail. The patients were also asked about factors that worsened PV and their experiences with a gluten-free diet. Results: Of the patients, 56.51% had used CAM. The mean age, illness duration, PASI scores and DLQI of those using CAM were significantly higher. CAM use was significantly higher in those with facial, genital involvement, and arthralgia/arthritis. The patients mostly referred to CAM when PV became severe (46.4%). Of the CAM users, 45.52% used herbal topicals. The physicians of 67.03% did not inquire whether they used CAM. Of the participants, 37.73% considered that stress worsened their disease. Gluten-free diet did not affect PV symptoms in 52.22%. Conclusions: Patients CAM use is often overlooked by dermatologists. Our results showed that more than half the patients used CAM and did not share this information with their physicians. Therefore, the awareness of physicians should be increased and patients should be asked about the use of CAM and directed to the appropriate medical treatment options by physicians

    Determination of boron transport in plum

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    Bu çalışmada; Artan dozlarda, farklı bor kaynakları kullanılarak, yapraktan uygulanan borun uygulanan bölgeden taşınımı belirlenmeye çalışılmıştır. Stanley çeşidi erikte, gelişimini yeni tamamlamış yapraklara artan dozda borik asit (H3BO3) ve Etidot-67 (Na2B8O13.4H2O) uygulanmış ve aynı sürgünde oluşan genç yapraklardaki, dallardaki ve bir sene önceki sürgünlerde bulunan yaprak ve dallardaki bor içerikleri belirlenmiştir. Çalışmada borik asit ve Etidot-67'nin 0, 500, 1000 mg B kg-1 içeren dozları kullanılmıştır. Araştırmada gelişimleri homojen, Prunus domestica cv. Stanley tipi erik ağaçlarından oluşan bahçeden 18 ağaç belirlenmiştir. Her bir ağaçtan beş yeni sürgün seçilerek sürgün üzerinde o sene gelişimini yeni tamamlamış yapraklara uygulama yapılmıştır. Bor uygulamaları 7 gün arayla 3 defa tekrarlanmıştır. Son uygulamadan 15 gün sonra deneme sonlandırılırmıştır. Deneme sonunda her ağaçtan uygulama yapılan sürgünlerden uygulama bölgesi bir önceki sene süren ve uygulama bölgesinden sonra gelişim gösteren sürgünlerden dal ve yaprak örnekleri alınmıştır. Yapılan uygulamalar; seçilen dallar üzerinde uygulama yapılan bölgenin bor içeriğine etki ettiği gibi uygulama yapılmayan genç yaprak ve dallarında bor içeriklerini arttırmıştır. Ancak uygulama yerinden önceki yaşlı yaprak ve dalların bor içeriklerinde istatistiksel olarak önemli görülen bir değişim gözlenmemiştir.In this study; In increasing doses, using different boron sources, the transport of boron from the foliar application was tried to be determined. Stanley variety in plum, increasing dose of boric acid and Etidot-67 applied to newly completed leaves and determined boron content of young leaves formed in the same shoot, branches and leaves and branches found in the shoots of the previous year. In the study, 0, 500, 1000 mg B kg-1 doses of boric acid and Etidot-67 were used. In this research, homogeneous growth 18 trees were selected from the Stanley type plum orchard. Five new shoots were selected from each tree and application made on leaves on the shoots that were newly completed. Boron applications were repeated 3 times with an interval of 7 days. The trial was terminated 15 days after the last application. At the end of the experiment, the branches and leaves were taken from the shoots, which were applied from each tree, from the shoots, the application area of which lasted last year and developed after the application area. Applications made; As it affects the boron content of the application area on the selected branches, it also increased the boron contents in the young leaves and branches that are not treated. However, no statistically significant change was observed in the boron contents of aged leaves and branches which comes before the application spot
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