Browsing by Department "Çocuk Sağlığı Enstitüsü"
Now showing items 1-15 of 15
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7Th Drug Hypersensitivity Meeting: Part One
(BioMed Central, 2016)Background: Stevens Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN) are serious, life threatening severe immune-mediated cutaneous reactions with mortality ranging from 10 to 30 %. The commonest causes are ... -
Androjen Reseptörü CAG Tekrar Polimorfizmi ve Pubertal Jinekomasti Arasındaki İlişkinin Değerlendirilmesi
(Çocuk Sağlığı Enstitüsü, 2019-06-17)Androgen signaling is essential in mammary gland homeostasis.CAG repeat length polymorphism of the androgen receptor (AR) gene was shown to be a predisposing factor in the development of breast cancer. In the light of ... -
Anoreksiya Nervoza Tanısı Alan Ergenlerde Mesane ve İşeme Disfonksiyonunun Değerlendirilmesi
(Sağlık Bilimleri Enstitüsü, 2018-12-31)Studies have shown that protein-energy malnutrition in adolescents with anorexia nervosa (AN) is an under-recognized cause of muscle dysfunction. However, the detrusor instability in adolescents with AN has never, to our ... -
Aspects of Pre-Eclamptic Toxemia of Pregnancy, Consanguinity, and Twinning in Ankara
(British Med Journal Publ Group, 1976)It appears that women classed as having pre-eclamptic toxaemia are less frequently consanguineous with their husbands than all other mothers and in particular those mothers classed as having pregnancies complicated by ... -
Discovery of Biomarkers In Rare Diseases: Innovative Approaches By Predictive and Personalized Medicine
(Springer, 2016)There are more than 8000 rare diseases (RDs) that affect >5 % of the world’s population. Many of the RDs have no effective treatment and lack of knowledge creates delayed diagnosis making management difficult. The emerging ... -
Erişkinlerde İnflamatuvar Barsak Hastalığı Ve Çölyak Hastalığı Tanıları İle İzlenen Hastalarda LRBA (Lps-Responsive Beige-Like Anchor) Eksikliği İle İlişkili Primer İmmün Yetmezlik Varlığının Araştırılması
(Çocuk Sağlığı Enstitüsü, 2020-12)In the present study, it was aimed to investigate the presence of the primary immunodeficiency disorder associated with LRBA deficiency in adult patients followed-up with diagnosis of inflammatory bowel disease (IBD) and ... -
Hedef Gen Yeni Nesil Dizileme Yöntemi ile Subakut Sklerozan Panensefalit (SSPE) Hastalığı İlişkili Gen Mutasyonlarının Tespiti
(Çocuk Sağlığı Enstitüsü, 2019)Subacute sclerosing panencephalitis (SSPE) is a chronic progressive neurodegenerative disease of the central nervous system effecting children and young adults. First symptoms are mental deterioration, myoclonia and ... -
Identification Of Mutations And Evaluation Of Cardiomyopathy In Turkish Patients With Primary Carnitine Deficiency
(Springer-Verlag Berlin, 2012)Primary systemic carnitine deficiency (SCD) is an autosomal recessive disorder caused by defective cellular carnitine transport. Patients usually present with predominant metabolic or cardiac manifestations. SCD is caused ... -
Interleukin-1 Induced Nuclear Factor-B Binds to a Disintegrin-Like and Metalloproteinase with Thrombospondin Type 1 Motif 9 Promoter in Human Chondrosarcoma Cells
(Spandidos Publ Ltd, 2015)Nuclear factor-B (NF-B) is involved in the regulation of inflammation-associated genes. NF-B forms dimers which bind with sequences referred to as NF-B sites (9-11 bp). A disintegrin-like and metalloproteinase with ... -
Prognostic Significance of Notch1 and Fbxw7 Mutations in Pediatric T-All
(Hindawi Ltd, 2010)The NOTCH signaling pathway plays important role in the development of multicellular organisms, as it regulates cell proliferation, survival, and differentiation. In adults, it is essential for the T- or B-lymphocyte lineage ... -
Sistemik İsotretinoin Tedavisi Alan Akne Vulgarisli Hastalarda Tedavi Öncesi ve Sonrası Periferik Lenfosit Subsetlerinin Değerlendirilmesi
(Çocuk Sağlığı Enstitüsü, 2019)Systemic isotretinoin is a retinoic acid derivative that has been successfully used for severe nodulocystic acne. There is not enough data regarding effects of retinoic acid derivatives on lymphocytes in peripheral ... -
Sık Görülen Değişken İmmün Yetmezlik Tanısı Olan Hastalarda Hla Sınıf I ve Hla Sınıf Iı Allellerinin Sıklığının Araştırılması
(Çocuk Sağlığı Enstitüsü, 2018)Common variable immunodeficiency (CVID) is a heterogeneous primary immunodeficiency disease characterized by poor response to vaccination and recurrent infections with B cell differentiation and antibody production defects. ... -
Tip I Diyabetli Çocuklarda Bisfenol-A Maruziyeti ve İdrar Bisfenol-A Düzeyleri
(Çocuk Sağlığı Enstitüsü, 2017)In this study, we aimed to evaluate the possible association between BPA exposure and T1DM by comparing the urine BPA levels of children followed up with type I diabetes mellitus with the control group. As a result of the ... -
Yaygın Değişken İmmün Yetmezlik Tanılı Hastalarda LRBA Defektinin Araştırılması
(Sağlık Bilimleri Enstitüsü, 2017-07-24)ABSTRACT Çağdaş Ayvaz, DN. Investigation of LRBA defect in patients with common variable immunodeficiency, Institute of Health Sciences, Program of Immunology, PhD. Thesis, Ankara, 2017. Primary immunodeficiencies are ... -
Yaygın Deri Siğilleri Olan Hastalarda HLA Sınıf I ve Sınıf II Allellerinin Araştırılması
(Sağlık Bilimleri Enstitüsü, 2019-09-24)Skin warts which are developped due to human papilloma virus (HPV) infections are benign epithelial proliferations with different clinical presentations. The role of genetic susceptibility and immunological mechanisms to ...
