Çocuk Sağlığı Enstitüsü: Recent submissions
Now showing items 21-31 of 31
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Novel Alu Retrotransposon Insertion Leading To Alstrom Syndrome
(Springer, 2012)Alstrom syndrome is a clinically complex disorder characterized by childhood retinal degeneration leading to blindness, sensorineural hearing loss, obesity, type 2 diabetes mellitus, cardiomyopathy, systemic fibrosis, and ... -
Molecular Characterization Of Turkish Patients With Pyrimidine 5 ' Nucleotidase-I Deficiency
(Amer Soc Hematology, 2003)Pyrimidine 5' nucleotidase-I (P5N-I) deficiency is a rare autosomal recessive disorder associated with hemolytic anemia, marked basophilic stippling, and accumulation of high concentrations of pyrimidine nucleotides within ... -
Effects of Respiration on Left Ventricular Diastolic Function in Healthy Children
(The European Society of Cardiology, 1996)Pulsed Doppler echocardiographic indices of mitral valve filling were measured in 20 healthy children, between 3 and 125 years old, in order to evaluate the effects of spontaneous respiration on left ventricular diastolic ... -
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 ... -
Yaygın Değişken İmmün Yetmezlik Hastalarının Klinik, İmmünolojik ve Genetik Özelliklerinin B Hücre Alt Grup Özellikleri ve KREC Sayıları ile Korelasyonunun Araştırılması
(Sağlık Bilimleri Enstitüsü, 2019)Yaz, I. Investigation of the Correlation Between Clinic, Immunologic and Genetic Features with B Cell Subgroup Characteristics and KREC Levels of Common Variable Immunodeficiency Patients. Hacettepe University, Institute ... -
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. ... -
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 ... -
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 ... -
Ağır Kombine İmmün Yetmezlikli Hastalarda, Hastalığa Neden Olan Genetik Defektlerin Yeni Nesil Dizileme Yöntemiyle Araştırılması
(Çocuk Sağlığı Enstitüsü, 2015)Severe combined immunodeficiency is the most severe form of primary immunodeficiencies. Patients with SCID present with high susceptibility to fatal bacterial, viral and fungal infections in their first year of life. Early ... -
Muhtemel Otoimmün Lenfoproliferatif Sendrom (Alps) Tanısıyla Izlenen Hastaların Bilinen Moleküler Defektler Yönünden Araştırılması
(Çocuk Sağlığı Enstitüsü, 2014)Apoptosis plays a crucial role in immune homeostasis. The interaction between Fas and FasL, essential molecules in an apoptosis pathway, play an important role in the termination of the immune response, regulation of ... -
Pubertal Jinekomasti Olgularında Tamoxifen Tedavisinin Pubertal Kemik Gelişimi Üzerindeki Etkisi
(Çocuk Sağlığı Enstitüsü, 2014)During puberty in both sexes endogeneous estrogen has a biphasic effect on epiphyses where at low levels it leads to an increase in height and bone mass whereas with higher levels this leads to closure of the epiphyses. ...
