Browsing by Subject "Child"
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Item Open Access Analysis of MYH Tyr165Cys and Gly382Asp variants in childhood leukemias(Springer, 2003) Akyerli, C. B.; Özbek, U.; Aydin-Sayitoǧlu, M.; Sirma, S.; Özçelik, T.[No abstract available]Item Restricted Çocuk ruh sağlığı ve psikiyatrisini Türkiye’ye tanıtan doktor: Atalay Yörükoğlu(Bilkent University, 2020) Yörükoğlu, Emel Yasemin; Çimşit, Deniz; Bayar, Utku; Acar, Alara; Kınay, Emre CanÇocuk ve Ergen Psikiyatrisi, çocukluk ve ergenlik dönemindeki bireylerin akıl sağlığıyla ilgilenir. Bu Anabilim Dalının Türkiye’de kuruculuğunu üstlenen Profesör Doktor Atalay Yörükoğlu’nun hayatı, makalemizin ana konusudur. Konumuz akademik kariyerinin yanında Atalay Yörükoğlu’nun kim olduğunu ve bu ilki nasıl gerçekleştirdiğini de kapsamaktadır. Bu açıdan tıpkı kendisinin çocuk ruh sağlığını inceleyerek insanın temeline inmeyi amaçladığı gibi biz de onun hayat hikayesinin ve Türk toplumuna sağladığı katkıların temellerine inmeyi amaçladık. Makalemizde sırasıyla Çocuk Psikiyatrisinin dünyadaki ve Türkiye’deki tarihinden başlayarak Atalay Yörükoğlu’nun kişisel hayatı, eğitim süreci, kariyeri hayatı, ortaya koyduğu eserler ve Türkiye’ye sağladığı katkılar incelenmiştir.Item Open Access Cognitive individualism and the child as scientist program(2011) Wringe, B.In this paper, I examine the charge that Gopnik and Meltzoff's 'Child as Scientist' program, outlined and defended in their 1997 book Words, Thoughts and Theories is vitiated by a form of 'cognitive individualism' about science. Although this charge has often been leveled at Gopnik and Meltzoff's work, it has rarely been developed in any detail.I suggest that we should distinguish between two forms of cognitive individualism which I refer to as 'ontic' and 'epistemic' cognitive individualism (OCI and ECI respectively). I then argue - contra Ronald Giere - that Gopnik and Meltzoff's commitment to OCI is relatively unproblematic, since it is an easily detachable part of their view. By contrast, and despite their explicit discussion of the issue, their commitment to ECI is much more problematic.Item Open Access Design of a modular playground equipment system for physically (motor) disabled children(Bilkent University, 1993) Sağdıç, Yaprak SavutThe elements of a medium for gathering the able and disable bodied children are examined within the scope of this study. Starting from the importance of play for children, the characteristics and the properties of the middle childhood are chosen as the domain. The play spaces and the playgrounds including the equipment are examined. The types of disabilities with special emphasize on the physically disabled ones are investigated. The motor type of disabled ones are specified as the potential user group. Besides, the assistive devices and rehabilitative apparatus used by the physically (motor) disabled children are pointed out. Finally, a modular playground equipment system is designed for the physically disabled children, which can serve both as a rehabilitation apparatus and a center for gathering all children in a playground to enjoy themselves.Item Open Access Diagnosis of gastric carcinoma by classification on feature projections(Elsevier, 2004) Güvenir, H. A.; Emeksiz, N.; İkizler, N.; Örmeci, N.A new classification algorithm, called benefit maximizing classifier on feature projections (BCFP), is developed and applied to the problem of diagnosis of gastric carcinoma. The domain contains records of patients with known diagnosis through gastroscopy results. Given a training set of such records, the BCFP classifier learns how to differentiate a new case in the domain. BCFP represents a concept in the form of feature projections on each feature dimension separately. Classification in the BCFP algorithm is based on a voting among the individual predictions made on each feature. In the gastric carcinoma domain, a lesion can be an indicator of one of nine different levels of gastric carcinoma, from early to late stages. The benefit of correct classification of early levels is much more than that of late cases. Also, the costs of wrong classifications are not symmetric. In the training phase, the BCFP algorithm learns classification rules that maximize the benefit of classification. In the querying phase, using these rules, the BCFP algorithm tries to make a prediction maximizing the benefit. A genetic algorithm is applied to select the relevant features. The performance of the BCFP algorithm is evaluated in terms of accuracy and running time. The rules induced are verified by experts of the domain. © 2004 Elsevier B.V. All rights reserved.Item Open Access Evaluation of chimerism with DNA polymorphisms in bone marrow transplantation(International Children's Center (I C C), 1997) Özbek, U.; Vural, B.; Kalayoǧlu, S.; Soysal, T.; Bilgen, H.; Yavuz, S.; Anak, S.; Sargın, D.; Gedikoǧlu G.; Ferhanoǧlu, Burhan; Akoǧlu, T.; Tangün, Y.; Özçelik, TayfunEvaluation of chimeric status following allogenlc BMT is an Important tool for monitoring the replacement of host cells with donor cells and for determining the risk of relapse. Polymorphic DNA sequences can be used as powerful markers in identification of donor/recipient genotype differences, even between close relatives. Polymerase chain reaction (PCR) amplification of three variable number of tandem repeat (VNTR) loci and five single-locus polymorphisms (SLP) was used to identify chimerism in 40 recipient-donor pairs. Mixed chimerism was present in 11 patients, and complete chimerism in 29. This PCR method is a rapid and sensitive assay to detect engraftment and evaluate relapse potential, and thus is very useful in the clinical management of BMT patients.Item Open Access Human MLH1 deficiency predisposes to hematological malignancy and neurofibromatosis type 1(American Association for Cancer Research, 1999) Ricciardone, M. D.; Özçelik, T.; Cevher, B.; Özdaǧ, H.; Tuncer, M.; Gürgey, A.; Uzunalimoǧlu, O.; Çetinkaya, H.; Tanyeli, A.; Erken, E.; Öztürk, M.Heterozygous germ-line mutations in the DNA mismatch repair genes lead to hereditary nonpolyposis colorectal cancer. The disease susceptibility of individuals who constitutionally lack both wild-type alleles is unknown. We have identified three offspring in a hereditary nonpolyposis colorectal cancer family who developed hematological malignancy at a very early age, and at least two of them displayed signs of neurofibromatosis type 1 (NF1). DNA sequence analysis and allele-specific amplification in two siblings revealed a homozygous MLH1 mutation (C676T → Arg226Stop). Thus, a homozygous germ- line MLH1 mutation and consequent mismatch repair deficiency results in a mutator phenotype characterized by leukemia and/or lymphoma associated with neurofibromatosis type 1.Item Open Access Increased frequency of extremely skewed X chromosome inactivation in juvenile idiopathic arthritis(John Wiley & Sons, Inc., 2009) Uz, E.; Mustafa, C.; Topaloglu, R.; Bilginer, Y.; Dursun, A.; Kasapcopur, O.; Ozen, S.; Bakkaloglu, A.; Ozcelik, T.Objective. Juvenile idiopathic arthritis (JIA) is a childhood rheumatic disease of unknown etiology. Two subgroups of JIA, i.e., oligoarticular and polyarticular, are thought to have an autoimmune component, and show a higher female:male ratio. Skewed X chromosome inactivation (XCI) has previously been shown to be associated with scleroderma and autoimmune thyroiditis, 2 autoimmune disorders occurring predominantly in females. This study was undertaken to extend the analysis to the pediatric age group and to determine the XCI profiles of patients with JIA.Item Open Access Insights into autism spectrum disorder genomic architecture and biology from 71 risk loci(Cell Press, 2015) Sanders, S. J.; He, X.; Willsey, A. J.; Ercan-Sencicek, A. G.; Samocha, K. E.; Cicek, A. E.; Murtha, M. T.; Bal, V. H.; Bishop, S. L.; Dong, S.; Goldberg, A. P.; Jinlu, C.; Keaney, J. F.; Keaney III, J. F.; Mandell, J. D.; Moreno-De-Luca, D.; Poultney, C. S.; Robinson, E. B.; Smith L.; Solli-Nowlan, T.; Su, M. Y.; Teran, N. A.; Walker, M. F.; Werling, D. M.; Beaudet, A. L.; Cantor, R. M.; Fombonne, E.; Geschwind, D. H.; Grice, D. E.; Lord, C.; Lowe, J. K.; Mane, S. M.; Martin, D.M.; Morrow, E. M.; Talkowski, M. E.; Sutcliffe, J. S.; Walsh, C. A.; Yu, T. W.; Ledbetter, D. H.; Martin, C. L.; Cook, E. H.; Buxbaum, J. D.; Daly, M. J.; Devlin, B.; Roeder, K.; State, M. W.Analysis of de novo CNVs (dnCNVs) from the full Simons Simplex Collection (SSC) (N = 2,591 families) replicates prior findings of strong association with autism spectrum disorders (ASDs) and confirms six risk loci (1q21.1, 3q29, 7q11.23, 16p11.2, 15q11.2-13, and 22q11.2). The addition of published CNV data from the Autism Genome Project (AGP) and exome sequencing data from the SSC and the Autism Sequencing Consortium (ASC) shows that genes within small de novo deletions, but not within large dnCNVs, significantly overlap the high-effect risk genes identified by sequencing. Alternatively, large dnCNVs are found likely to contain multiple modest-effect risk genes. Overall, we find strong evidence that de novo mutations are associated with ASD apart from the risk for intellectual disability. Extending the transmission and de novo association test (TADA) to include small de novo deletions reveals 71 ASD risk loci, including 6 CNV regions (noted above) and 65 risk genes (FDR ≤ 0.1). Through analysis of de novo mutations in autism spectrum disorder (ASD), Sanders et al. find that small deletions, but not large deletions/duplications, contain one critical gene. Combining CNV and sequencing data, they identify 6 loci and 65 genes associated with ASD.Item Open Access Mutations in RAD21 disrupt regulation of apob in patients with chronic intestinal pseudo-obstruction(W.B. Saunders, 2015) Bonora, E.; Bianco, F.; Cordeddu, L.; Bamshad, M.; Francescatto, L.; Dowless, D.; Stanghellini, V.; Cogliandro, R. F.; Lindberg, G.; Mungan, Z.; Cefle, K.; Ozcelik, T.; Palanduz, S.; Ozturk, S.; Gedikbasi, A.; Gori, A.; Pippucci, T.; Graziano, C.; Volta, U.; Caio, G.; Barbara, G.; D'Amato, M.; Seri, M.; Katsanis, N.; Romeo, G.; De Giorgio, R.Background Aims Chronic intestinal pseudo-obstruction (CIPO) is characterized by severe intestinal dysmotility that mimics a mechanical subocclusion with no evidence of gut obstruction. We searched for genetic variants associated with CIPO to increase our understanding of its pathogenesis and to identify potential biomarkers. Methods We performed whole-exome sequencing of genomic DNA from patients with familial CIPO syndrome. Blood and lymphoblastoid cells were collected from patients and controls (individuals without CIPO); levels of messenger RNA (mRNA) and proteins were analyzed by quantitative reverse-transcription polymerase chain reaction, immunoblot, and mobility shift assays. Complementary DNAs were transfected into HEK293 cells. Expression of rad21 was suppressed in zebrafish embryos using a splice-blocking morpholino (rad21a). Gut tissues were collected and analyzed. Results We identified a homozygous mutation (p.622, encodes Ala>Thr) in RAD21 in patients from a consanguineous family with CIPO. Expression of RUNX1, a target of RAD21, was reduced in cells from patients with CIPO compared with controls. In zebrafish, suppression of rad21a reduced expression of runx1; this phenotype was corrected by injection of human RAD21 mRNA, but not with the mRNA from the mutated p.622 allele. rad21a Morpholino zebrafish had delayed intestinal transit and greatly reduced numbers of enteric neurons, similar to patients with CIPO. This defect was greater in zebrafish with suppressed expression of ret and rad21, indicating their interaction in the regulation of gut neurogenesis. The promoter region of APOB bound RAD21 but not RAD21 p.622 Ala>Thr; expression of wild-type RAD21 in HEK293 cells repressed expression of APOB, compared with control vector. The gut-specific isoform of APOB (APOB48) is overexpressed in sera from patients with CIPO who carry the RAD21 mutation. APOB48 also is overexpressed in sporadic CIPO in sera and gut biopsy specimens. Conclusions Some patients with CIPO carry mutations in RAD21 that disrupt the ability of its product to regulate genes such as RUNX1 and APOB. Reduced expression of rad21 in zebrafish, and dysregulation of these target genes, disrupts intestinal transit and the development of enteric neurons.Item Open Access Novel VLDLR microdeletion identified in two Turkish siblings with pachygyria and pontocerebellar atrophy(Springer, 2010) Kolb, L. E.; Arlier, Z.; Yalcinkaya, C.; Ozturk, A. K.; Moliterno, J. A.; Erturk, O.; Bayrakli, F.; Korkmaz, B.; DiLuna, M. L.; Yasuno, K.; Bilguvar, K.; Ozcelik, T.; Tuysuz, B.; State, M. W.; Gunel, M.Congenital ataxia with cerebellar hypoplasia is a heterogeneous group of disorders that presents with motor disability, hypotonia, incoordination, and impaired motor development. Among these, disequilibrium syndrome describes a constellation of findings including non-progressive cerebellar ataxia, mental retardation, and cerebellar hypoplasia following an autosomal recessive pattern of inheritance and can be caused by mutations in the Very Low Density Lipoprotein Receptor (VLDLR). Interestingly, while the majority of patients with VLDL-associated cerebellar hypoplasia in the literature use bipedal gait, the previously reported patients of Turkish decent have demonstrated similar neurological sequelae, but rely on quadrupedal gait. We present a consanguinous Turkish family with two siblings with cerebellar atrophy, predominantly frontal pachygyria and ataxic bipedal gait, who were found to have a novel homozygous deletion in the VLDLR gene identified by using high-density single nucleotide polymorphism microarrays for homozygosity mapping and identification of CNVs within these regions. Discovery of disease causing homozygous deletions in the present Turkish family capable of maintaining bipedal movement exemplifies the phenotypic heterogeneity of VLDLR-associated cerebellar hypoplasia and ataxia.Item Open Access Parents’ and children’s perception of restaurant inclusivity(Bilkent University, 2021-07) Altıntepe, BüşraRestaurants are public spaces which everyone has the equal right to access. It matters how inclusive the restaurants are for parents and children. However, the issue of restaurant inclusiveness from the family and child perspective has not been a frequent focus on previous studies. This study aims to understand how parents and children perceive restaurants’ inclusivity and to examine whether there are any differences in perceptions of them or not. Furthermore, it aims to see parents’ and children’s priorities in a restaurant with a comparative approach. Moreover, it addresses if there are any notable functions of the restaurant besides eating for parents and children. A mixed methodological approach was used for the study. An online questionnaire was conducted with 40 parents, one-to-one interviews were carried out with 60 children, and interviews were supported with a drawing method, including the drawings of 30 of the children who participated in the study. The findings of the study show that there are differences between the perceptions and priorities of the parents and children in a restaurant environment. Additionally, restaurants have other notable functions besides eating for parents’ and children. Especially children perceive the restaurant as a public space that allows them to play and socialize. Furthermore, children’s drawing analysis method was applied in a restaurant inclusivity context for the first time and confirmed that the use of mixed methodology is beneficial for children’s studies. This study helps to improve the knowledge about parent and child inclusivity in restaurant environments and also, it contributes to designers and restaurateurs regarding family inclusivity by offering recommendations and reasonable adjustments to increase inclusivity.Item Open Access Remembering İhsan Doğramacı(International Children's Center (ICC), 2011) Özsoylu, S.; Erdoğan, P. L.Item Open Access The resource curse and child mortality, 1961–2011(Elsevier Ltd, 2017) Wigley, S.There is now an extensive literature on the adverse effect of petroleum wealth on the political, economic and social well-being of a country. In this study we examine whether the so-called resource curse extends to the health of children, as measured by under-five mortality. We argue that the type of revenue available to governments in petroleum-rich countries reduces their incentive to improve child health. Whereas the type of revenue available to governments in petroleum-poor countries encourages policies designed to improve child health. In order to test that line of argument we employ a panel of 167 countries (all countries with populations above 250,000) for the years 1961–2011. We find robust evidence that petroleum-poor countries outperform petroleum-rich countries when it comes to reducing under-five mortality. This suggests that governments in oil abundant countries often fail to effectively use the resource windfall at their disposal to improve child health.Item Open Access Somatic mosaicism for a MECP2 mutation associated with classic Rett syndrome in a boy(Nature Publishing, 2002) Topçu, M.; Akyerli, C.; Sayi, A.; Törüner, G. A.; Koçoǧlu, S. R.; Cimbiş, M.; Özçelik, T.Rett syndrome is a severe neurodevelopmental disorder that arises from mutations in the X-linked MECP2 gene. It is almost exclusively seen in girls due to the predominant occurrence of the mutations on the paternal X-chromosome, and also the early postnatal lethal effect of the disease causing mutations in hemizygous boys. We identified a boy with features of classic Rett syndrome who is mosaic for the truncating MECP2 mutation R270X. Chromosome analysis showed normal karyotype. These results indicate that a MECP2 mutation associated with Rett syndrome in females could lead to a similar phenotype in males as a result of somatic mosaicism.Item Open Access Structural brain alterations of Down’s syndrome in early childhood evaluation by DTI and volumetric analyses(Springer Verlag, 2017) Gunbey, H. P.; Bilgici, M. C.; Aslan, K.; Has, A. C.; Ogur, M. G.; Alhan, A.; Incesu, L.Objectives: To provide an initial assessment of white matter (WM) integrity with diffusion tensor imaging (DTI) and the accompanying volumetric changes in WM and grey matter (GM) through volumetric analyses of young children with Down’s syndrome (DS). Methods: Ten children with DS and eight healthy control subjects were included in the study. Tract-based spatial statistics (TBSS) were used in the DTI study for whole-brain voxelwise analysis of fractional anisotropy (FA) and mean diffusivity (MD) of WM. Volumetric analyses were performed with an automated segmentation method to obtain regional measurements of cortical volumes. Results: Children with DS showed significantly reduced FA in association tracts of the fronto-temporo-occipital regions as well as the corpus callosum (CC) and anterior limb of the internal capsule (p < 0.05). Volumetric reductions included total cortical GM, cerebellar GM and WM volume, basal ganglia, thalamus, brainstem and CC in DS compared with controls (p < 0.05). Conclusion: These preliminary results suggest that DTI and volumetric analyses may reflect the earliest complementary changes of the neurodevelopmental delay in children with DS and can serve as surrogate biomarkers of the specific elements of WM and GM integrity for cognitive development. Key Points: • DS is the most common genetic cause of intellectual disability. • WM and GM structural alterations represent the neurological features of DS. • DTI may identify the earliest aging process changes. • DTI-volumetric analyses can serve as surrogate biomarkers of neurodevelopment in DS. © 2016, European Society of Radiology.