Amaç: Embriyo implantasyonu ve plasental dolaşımın temel sorumlusu olan kapiller damarlardaki patolojilerin abortus etiyolojisindeki mekanizmalar üzerinde etkileri olduğu bilinmektedir. Matriks metalloproteinaz (MMP) ailesinden MMP2 ve MMP9’un ekstrasellüler matriks organizasyonunda ve trofoblast implantasyonunda önemli görevleri vardır. Bu çalışmada, fonksiyonel olduğu bilinen MMP2 -735 C>T, -1306 C>T ve MMP9 -1562 C>T polimorfizmlerinin spontan abortus (SA) materyallerindeki genotip farklılıklarını belirlemek ve bu polimorfizmlerin SA etiyolojisinde rolü olup olmadığına ışık tutabilmek amaçlanmıştır. Gereç ve Yöntem: Polimorfizmlerin genotiplerinin analizinde restriksiyon fragman uzunluk polimorfizmi (RFLP) yöntemi kullanılmıştır. Çalışma grubu 80 spontan abortus örneğinden, kontrol grubu 100 sağlıklı gönüllü bireyin periferik kan örneğinden oluşmaktadır. Bulgular: MMP2 -735 C>T ve MMP9 -1562 C>T polimorfizmleri için SA örnekleri ve kontrol grubu arasında anlamlı fark saptanmadı. MMP2 -1306 C>T polimorfizminin heterozigot genotip sıklığı SA örneklerinde kontrol grubuna kıyasla 2,2 kat daha fazla bulundu (p=0.043). MMP2 genindeki normal -735 C>T ve heterozigot -1306 C>T genotiplerinin birlikte görülme sıklığı SA örneklerinde kontrol grubuna göre 3,7 kat fazla idi (p=0.021). Sonuç: MMP2 -1306 C>T fonksiyonel polimorfizmi ile SA oluşması arasında bir ilişki bulunmuştur. Daha yüksek sayılardaki SA çalışmalarındaki ileri genetik çalışmalar ve ekspresyon analizleri MMP2 ve MMP9 polimorfizmlerinin SA üzerindeki potansiyel rollerini net olarak belirlemede katkıda bulunacaktır.

Obesity is becoming a concerning disease in developing countries. Like other multifactorial diseases, genetics plays a substantial role in the development of this disease. We tried to investigate genetic variations (mutation/polymorphism) of GLP-1R gene in children diagnosed with obesity and to identify their possible connections with obesity and other conditions. Genomic DNA was extracted from 162 overweight/obese patients and 100 controls. Later, full exon sequencing and association studies were carried out. Three polymorphisms and one mutation were detected in the fourth and fifth exons of the GLP-1R gene. Some variations were detected in three cases from which 1/3 had non-alcoholic fatty liver disease (NAFLD) but none showed insulin resistance (IR). There were also statistically meaningful results for ‘Odds Ratio’ among different genotypes and allele frequencies in groups with NAFLD and/or IR. In addition, there was an increase in risk for NAFLD and a decrease in risk for IR. In the homozygous group, also the prospect of IR was double declined. Patients with the A allele of this polymorphism showed a drop in risk for IR as well. GLP-1R polymorphisms could influence obesity and diabetes and thus the functional analysis of the GLP-1R polymorphisms is benevolent.

The growing interdisciplinary research field of psycholinguistics is in constant need of new and up-to-date tools which will allow researchers to answer complex questions, but also expand on languages other than English, which dominates the field. One type of such tools are picture datasets which provide naming norms for everyday objects. However, existing databases tend to be small in terms of the number of items they include, and have also been normed in a limited number of languages, despite the recent boom in multilingualism research. In this paper we present the Multilingual Picture (Multipic) database, containing naming norms and familiarity scores for 500 coloured pictures, in thirty-two languages or language varieties from around the world. The data was validated with standard methods that have been used for existing picture datasets. This is the first dataset to provide naming norms, and translation equivalents, for such a variety of languages; as such, it will be of particular value to psycholinguists and other interested researchers. The dataset has been made freely available.

Background: Alzheimer’s disease is a multifactorial, neurodegenerative disease which is considered the most common cause of dementia. It is divided into two subtypes based on the age of onset: Early-Onset Alzheimer’s Disease (EOAD) and Late-Onset Alzheimer’s Disease (LOAD). Objective: In this study, we aimed to analyse the polymorphisms of APOE2/E3/E4, ACE I/D, PICALM rs3851179, which are thought to increase the risk of disease, and CYP2D6 rs1080985, that affects the therapy response. Methods: 102 early onset and 99 late onset Alzheimer's patients diagnosed according to DSM-IV and NINCDS-ADRDA diagnostic criteria were included in the study. MMSE test was applied at the time of diagnosis and the control examination was performed after 6 months. We analysed the polymorphisms of APOE2/E3/E4 by fragment analysis and ACE I/D, PICALM rs3851179, CYP2D6 rs1080985 by Real Time- PCR. The response of the therapy and effects on prognosis were compared between groups by Mini-Mental State Exam test scores. Results: The score differences of the women were significantly lower than men’s score differences. The score differences of the EOAD group were significantly lower than the LOAD group in women. Family history situation was higher in men compared to women. The score differences were higher at CC genotype for PICALM rs3851179 in the EOAD group; the score differences were higher at E3/E4 genotype than E2/E2 genotype in LOAD. Also, the score differences were significantly higher at PICALM rs3851179 in the acetylcholinesterase inhibitor+antidepressant therapy group. Conclusions: The relationship between the treatment groups and related gene regions was investigated extensively for the first time in the literature. As a result, it will be a guide in the clinic in light of the findings of the prognosis and pharmacogenetic interactions of the disease obtained from the study.

Daha açık, şeffaf, tekrarlanabilir ve yeniden üretilebilir çalışmalar yürütmeye dikkat çeken açık bilimle ilgili tartışmalar, son yıllarda alanyazında küresel olarak görünürlük kazanmaktadır. Bu tartışmalar, dilbilim alanında da kendine yer bulmuş, fakat ülkemizde bu alanda açık bilime dair kayda değer bir alanyazın henüz oluşmamıştır. Bu doğrultuda, bu makale tekrarlama krizi, bilimsel sahtekarlık ve yayın yanlılığı gibi açık bilime zemin hazırlayan gelişmelerin güncel bir özetini sunarak, şeffaflık, tekrarlanabilirlik ve yeniden üretilebilirlik gibi ilkelerin dil araştırmalarında nasıl vücut bulabileceğini irdelemiştir. Dahası, makalede gizli esneklik ve sakıncalı araştırma uygulamaları sorunlarına dil araştırmaları özelinde odaklanılmış ve bu sorunların ciddiyetine karşı bir farkındalık oluşturmak amaçlanmıştır. Ayrıca, bu sorunlara karşı önerilmiş dört temel çözüm (ön kayıt, yeniden üretilebilir iş akışı, ön baskı ve veri/materyal paylaşımı) artı ve eksileriyle tartışılarak dil araştırmacılarının dikkatine sunulmuştur. Araştırmacıların bu çözüm önerilerini kendi alan ve koşullarını düşünerek değerlendirmeleri ve olabildiğince uygulamaları, dil araştırmalarında şeffaflık, tekrarlanabilirlik ve yeniden üretilebilirliği artırmaya katkı sağlayacaktır.

Cognate facilitation and false cognate inhibition effects have been tested in various language pairs with different experimental tasks and participant profiles so far. However, studies focusing on the recognition or production of (false) cognates are nearly absent for Turkish-English despite the prevalence of these words. Thus, using a backward lexical translation task (from L2 to L1), this study aimed to investigate whether cognate facilitation and false cognate inhibition effects could be observed in Turkish-English by testing 50 adult Turkish L2 speakers of English. The materials were made up of cognates, false cognates, and controls. The effect of L2 proficiency was also manipulated by dividing the participants into two proficiency groups (high vs. low) based on OPT scores. Also, the role of morphology was introduced by using mismatch items (polymorphemic in L2 but monomorphemic in L1). The findings showed a robust cognate facilitation and false cognate inhibition but no significant effect of L2 proficiency. The role of morphology was not conclusive and came with its limitations. These results provided supporting evidence for the language non-selective view and pointed towards the presence of these effects irrespective of language, task or participant profile. Also, a compelling need for measuring proficiency using multiple measures emerged.

Background and Aims:PCDH19 gene, which encodes protocadherin 19, is associated with epilepsy and intellectual disability, mainly in affected females. The clinical manifestations are heterogeneous and the main features include early onset seizure, generalized or focal seizures sensitive to fever, and brief seizures occurring in clusters. The disorders exhibit a unique and unusual X-linked pattern of expression. We aimed to investigate PCDH19 mutations/deletions in patients with epilepsy and describe the clinical/molecular features. Methods: PCDH19 gene was analyzed in 35 Turkish female patients from 34 families with early-onset epilepsy via direct sequencing and multiplex ligation-dependent probe amplification analysis. Additionally, array comparative genomic hybridization analysis was performed in patients with whole gene deletion. Results: We identified 2 different heterozygous mutations in 2 unrelated probands (5. 7%) which were located in exon 1. Additionally, whole gene deletions were detected in dizygotic twin girls (5. 7%), who had distinct clinical features and the deletion was inherited from the unaffected father. The second twin suffered more severe clinical manifestations including autistic features, behavioral problems, mild-moderate mental retardation and seizures, which were under control with multidrug regimen when compared with the first twin. Conclusion: PCDH19 is a major causative gene in patients with epilepsy and further data is required to gain a better understanding of phenotype-genotype correlation. In addition to gene sequencing, deletion/duplication analysis will improve the molecular diagnosis in patients with clinical findings.

Background: Autosomal recessive congenital ichthyosis (ARCI) is a genetically heterogeneous keratinization disorder, which is clinically classified into five main forms: Lamellar ichthyosis, congenital ichthyosiform erythroderma, harlequin ichthyosis, self-healing collodion baby, and bathing suit ichthyosis. Mutations in TGM1, ABCA12, ALOX12B, ALOXE3, NIPAL4, CYP4F22, PNPLA1, LIPN, and CERS3 genes have been described in patients with ARCI. However, in 20% of the ARCI patients, the genetic defect remains unknown. Materials and Methods: In this study, we investigated the mutations in the CYP4F22 gene in ARCI patients who do not have mutations in two common ARCI genes, NIPAL4 and TGM1. Twenty-two patients diagnosed with ARCI and having no mutations in TGM1 and NIPAL4 genes were included in the study. Their CYP4F22 genes were sequenced using the Sanger sequencing method. Results: In 5 of 22 (22.7%) ARCI patients, four different mutations, of which two were previously reported, were found. The two novel mutations were c.976C> T and c.1189C> T. The c.727C> T and c.1303C>T mutations were previously reported. Conclusions: This study expands the CYP4F22 mutation spectrum and to provide more accurate genetic counseling for patients at risk.

Background and aim:The number of reports on the role of tubulin gene mutations (TUBA1A, TUBB2B, and TUBB3) in etiology of malformations of cortical development has peaked in recent years. We aimed to determine tubulin gene defects on a patient population with simple and complex malformations of cortical development, and investigate the relationship between tubulin gene mutations and disease phenotype.Materials and methods:We evaluated 47 patients with simple or complex malformations of cortical development, as determined by radiological examination, for demographic features, clinical findings and mutations on TUBA1A, TUBB2B, and TUBB3 genes.Results:According to the magnetic resonance imaging findings, 19 patients (40.5%) had simple malformations of cortical development and 28 (59.5%) patients had complex malformations of cortical development. Focal cortical dysplasia was the most common simple malformation, lissencephaly was the most common coexisting cortical malformation, and corpus callosum anomalies were the most common coexisting extracortical neurodevelopmental abnormalities. None of the patients had genetic alterations on TUBA1A, TUBB2B, and TUBB3 genes causing protein dysfunction. On the other hand, the frequencies of some polymorphisms were higher when compared to the literature.Conclusion:It is crucial to identify the etiology in patients with malformations of cortical development in order to provide appropriate genetic counseling and prenatal diagnosis. We consider that multicenter studies with higher patient numbers and also including other malformations of cortical development-related genes are required to determine underlying etiological factors of malformations of cortical development patients.

Peritoneal fibrosis (PF) is a pathological change that occurs mostly long-term peritoneal dialysis (PD) patients, as a result of triggering the inflammatory response. Plasminogen activator inhibitor-1 (PAI-1) is an important molecule featured in the development of fibrosis. It has been shown in literature that PAI-1 gene alterations are associated with fibrosis in many tissues and organs. However, PAI-1 gene alterations in long-term PD patients have not yet been investigated. In this study, PAI-1 4G/5G polymorphism was examined by reverse hybridization, and all coding exons of the PAI-1 gene were examined by sequence analysis to provide treatment modification in patients with predisposition before fibrosis develops. The patients were divided into two groups according to ultrafiltration failure test and duration of PD treatment: those with suspected PF or a high probability of developing PF (36%) and those with a low probability of developing PF (64%). There was no significant difference between the two groups in findings such as peritoneal equilibration test (PET), Kt/V, the content of the PD solution used, peritonitis, and PAI-1 4G/5G polymorphism (P > .05). A total of eight gene alterations (rs2227660, rs2227668, rs2854233, rs41281004, rs61553169, rs368413856, rs2227684) were detected by sequence analysis, one of which was exonic (rs6092). When the genotype distributions of these variants were examined, no significant difference was found between the two groups. PAI-1 gene changes were not detected in patients with the probability of developing PF. There is a need for further studies involving other molecules responsible for predisposing to PF with larger patient populations in patients undergoing long-term PD treatment.

The aim of this study is to determine the opinions of English teachers regarding the use of technology supported tools, such as; computer and internet, in foreign language education by taking into account the variables of age, gender, seniority and educational background. For this purpose, teachers were asked whether they make use of computer-aided teaching materials, if so, in which area of foreign language education they use, the differences between traditional education and computer assisted language learning, the difficulties encountered and the skills they should have. In this study, a case study pattern, which is one of the qualitative research methods was used. Participants of the study consist of 11 English teachers selected by the convenience sampling model. In the study, the data were collected through a semi-structured interview form consisting of six questions. data were analyzed using descriptive analysis method. First, similar opinions were gathered around under six themes and the codes of these themes were tabulated. results of the study show that 55% of teachers use educational technology to attract students' attention to the topic and to increase efficiency, 45% of them use the computer and smart board especially to improve students’ speaking and listening skills, 91% of them stated that technology–aided education makes students more willing to learn because it provides permanent learning. It was seen that 55% of the participants have internet access problem and the 64% of the participants stated that they should have basic technology usage skills.

In this study we analyzed 81 patients who referred to our outpatient clinic diagnosed as early onset Alzheimer's disease (EOAD) between January 2014-January 2017 and had been performed Sanger sequencing analysis for exons 16 and 17 of APP, and all coding exons of PSEN1 and PSEN2 genes. All sequenced patients were demented, and of the 81 patients, 49 were female and 32 were male. The average age at admission and mean age of onset were 54.8 (Patients were referred to our outpatient clinic at the time of diagnosis). Before testing, written informed consent was obtained from the patients and/or family members, and ethics committee approval was received for this study from the Ethics Committee of Dokuz Eylul University Medicine Faculty. We found seven PSEN1and four PSEN2 mutations, and we did not find any APP mutations.

Studies investigating the morphological processing of affixed forms have to date focused predominantly on inflectional rather than derivational forms and have mostly tested L1 speakers. The present study investigated how high and low proficiency Turkish learners of L2 English generalize regular/irregular verbal inflection and deadjectival un-/in- derivatives to novel stems in an acceptability judgment task. The results showed that the participants generalized both the inflectional and derivational affixes to novel stems when these stems were similar to the existing stems appearing together with these affixes. However, the participants showed no preference when novel stems were dissimilar both in the case of verbal inflection and deadjectival derivatives. The proficiency level of the participants did not affect the overall response patterns. The results are discussed in terms of different models proposed for the morphological processing of complex word forms.

Background/aim: CHARGE syndrome is a rare autosomal dominant disease with multiple congenital anomalies and cognitive impairment, which is caused by mutations in the CHD7 gene. This study aimed to disclose the mild end of the phenotypic spectrum of CHARGE syndrome, which has a highly variable expressivity. Materials and methods: Twenty-one patients who had at least one of the major symptoms of CHARGE syndrome (coloboma, choanal atresia, characteristic ear anomalies, semicircular canal hypoplasia, and cranial nerve anomalies) were included in the study. All patients were tested for karyotype analysis and CHD7 gene mutation/deletion. Results: In the study population, 6 different mutations were detected in 5 patients, and 2 different polymorphisms were detected in the CHD7 gene in 3 patients. MLPA analysis of all coding exons of the CHD7 gene revealed no pathogenic deletion/duplication. Conclusion: CHARGE syndrome should be considered as a differential diagnosis to detect the mild end of the spectrum, even if the patient does not fit the criteria.

Nonketotic hyperglycinemia (NKH) is an autosomal recessive inborn error of metabolism caused by a defect in the glycine cleavage complex.1 Progressive lethargy, hypotonia, feeding difficulties, hiccups, and recurrent apnea are usually observed during the first few days of life. Subsequent severe neurologic dysfunction may occur, including intractable seizures, motor and cognitive impairments.2 NKH is characterized biochemically by increased cerebrospinal fluid (CSF) and plasma glycine levels and an increased CSF-to-plasma glycine ratio.

Tanatoforik displazi, genelde perinatal donemde olumle sonuclanan ve kisa ekstremiteler ile kendini gosteren yenidoganin cucelik sendromlarindan biridir. Makrosefali, belirgin alin, dar toraks, vertebralarda duzlesme, ekstremitelerde kisalik, femurda egrilme ile karakterizedir. Fibroblast buyume faktoru reseptoru 3 ( FGFR3) genindeki mutasyonlardan kaynaklanir ve otozomal dominant kalitim modeli gosterir. Bu makalede, prenatal donemde anormal USG bulgulari olan, amniyosentez materyalinden yapilan FGFR3 gen analizi ile p.R248C mutasyonu saptanan bir olgu anlatilmistir.

Aniridia is a congenital, panocular abnormality which is characterized by partial or complete absence of iris and various degrees of iris hypoplasia. Mutations in the PAX6 gene are found in similar to 90% of cases with aniridia. The human PAX6 gene is located at chromosome 11p13 and encodes a transcriptional regulator that has crucial roles in the development of the eyes, central nervous system and pancreatic islets. The present study performed a clinical and genomic analysis of two families containing multiple cases of aniridia. All exons of the PAX6 gene of the probands were sequenced using the Sanger sequencing technique. A heterozygous non-stop mutation in exon 14 was identified in the first family, which has been previously reported for a different ophthalmological pathology. This mutation causes on-going translation of the mRNA into the 3-untranslated region. In the second family, a novel frameshift heterozygous deletion in exon 8 was identified.

Gastrointestinal sistem hastalıkları, çocukların fiziksel ve ruhsal gelişimlerini belirgin bir şekilde etkiler. Çocuklarda basit bir emilim bozukluğundan, malabsorpsiyona kadar gidebilen sorunlara neden olabilir. Büyüme ve gelişmeyi doğrudan etkilediğinden, erken tanı ve tedavi ile düzeltilebilme olasılığı açısından önemlidir. Birçok gastrointestinal sistem hastalığı enterositlerde, enterik sinir sistemi hücrelerinde, düz kas hücrelerinde (miyositler) ve/veya interstisyel Cajal hücrelerinde hasara yol açmaktadır. Gastrointestinal sistem hastalıkları, çoğunlukla multifaktöriyel ve poligenik kalıtım modeli gösterirler. İstisna olarak kistik fibroz gibi tek gen hastalıkları örnek verilebilir. Son yıllarda giderek önem kazanan yeni nesil sekanslama (next generation sequencing) ve ekzom sekanslama gibi genetik analiz yöntemleri ile poligenik hastalıklarda etkilenen birçok gen ve fonksiyonları bilinmeye başlanmıştır. Kalıtımsal hastalıkların çoğu, özellikle çocukluk çağında, hastanede yatmayı gerektiren kronik problemler yaratabilmektedir. Genetik testler, hastalığın önceden tahmin edilmesine böylece de klinik değerlendirmelerin erken dönemde yapılabilmesine ve kesinliği net olmayan klinik tanıların aydınlatılabilmesine olanak sağlayacaktır. Günümüzde, genetik etiyolojiler üzerinden yola çıkılarak tedavi seçenekleri denenmektedir. İleriki yıllarda, bu hastalıkların da genetik etiyolojileri netleştirildiğinde, hastalara özgü farklı tedavi seçenekleri sunma imkânı doğabilecektir. Bu çalışma ile çocukluk çağının sık görülen gastrointestinal sistem hastalıkları ve genetiği hakkında güncel bilgiler verilerek, etiyolojilerinin oldukça heterojen ve çok faktörlü olduğu bu hastalık gruplarında, pratik olarak incelenebilecek olan bazı genlere dikkat çekilmek istenmiş, tetkikler için yararlı olabilecek gen panellerinin planlanabilmesinde faydalı bir zemin oluşturacak bilgilere yer verilmiş ve genetik danışmanlık için yararlanılabilecek bilgiler sunulmuştur.