Başlık için Çocuk Sağlığı Enstitüsü listeleme
Toplam kayıt 33, listelenen: 1-20
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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 ... -
Anne ve Çocukta Kronik Hastalıkların Varlığı ile Ebeveyn Tutumları Arasındaki ilişki
(Çocuk Sağlığı Enstitüsü, 2024)This study aims to investigate parenting styles in families dealing with mother-child chronic diseases. Mothers of children aged 2-6 years were recruited from three pediatric clinics and classified according to the health ... -
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 ... -
Dynamics of the Rhomboid-Like Protein Rhbdd2 Expression in Mouse Retina And Involvement of Its Human Ortholog in Retinitis Pigmentosa
(Amer Soc Biochemistry Molecular Biology Inc, 2013)The novel rhomboid-like protein RHBDD2 is distantly related to rhomboid proteins, a group of highly specialized membrane-bound proteases that catalyze regulated intramembrane proteolysis. In retina, RHBDD2 is expressed ... -
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 ... -
Ergen Sağlığı Ünitesine Başvuran Adolesan Obezlerde Kitle İletişim Araç Bağımlılıkları ve Uyku Düzeninin Psikiyatrik Semptomlarla İlişkisinin Değerlendirilmesi
(Sağlık Bilimleri Enstitüsü, 2021-05-21)Y. Durmaz. The Evaluation of the Relationship Between Mass Media Tool Dependencies and Sleep Patterns and Psychiatric Symptoms in Obese Adolescents Applying to the Division of Adolescent Medicine. Hacettepe University. ... -
Ergenlik Döneminde Problemli Video Oyun Oynama Davranışının Kemik Mineral Dansitesi Üzerine Etkisi
(Sağlık Bilimleri Enstitüsü, 2022)Problematic video gaming behavior (PGB) refers to individuals who are at risk but do not fully meet the diagnostic criteria of Internet gaming disorder (IGD) and whose functional impairement has not yet been evident. Bone ... -
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 ... -
Erken Başlangıçlı İnflamatuvar Bağırsak Hastalığı ve İnflamatuvar Bağırsak Hastalığı Benzeri Kronik İshali Olan Çocukların Sorumlu Genler Açısından Araştırılması
(Çocuk Sağlığı Enstitüsü, 2022)Inflammatory bowel disease (IBD) is a chronic inflammatory disease of the gastrointestinal tract. Very early onset IBD and early onset IBD are terms used to describe IBD that first presents before the age of six and before ... -
Farklı Etiyopatogeneze Sahip Hastalığı Olan Çocukların Ebeveynlerinde Aşı Kabulü Ve İlişkili Faktörler
(Sağlık Bilimleri Enstitüsü, 2024)Vaccination is the most successful, safest and most cost-effective approach to protecting children's health and preventing infectious diseases. In recent years, 'Vaccine Hesitancy’ (VH) and 'Vaccine Refusal’ (VR) have been ... -
Fenilalanin Metabolizması Bozukluğu Olan Hastaların Tedavi Rejimlerine göre Serum Bisfenol A, Bisfenol F, Ftalat ve Bazı Ağır Metaller Arasındaki İlişkinin İncelenmesi
(Çocuk Sağlığı Enstitüsü, 2024-10-16)Phenylketonuria (PKU) is the most common amino acid metabolism disorder. Patients with blood phenylalanine (Phe) levels of 6 mg/dl require treatment, and the most definitive treatment is the Phe-restricted diet. Environmental ... -
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 ... -
İMMÜN DİSREGÜLASYON BULGULARI OLAN HASTALARDA İLİŞKİLİ YOLAKLARIN RT-PCR ile DEĞERLENDİRİLMESİ
(Çocuk Sağlığı Enstitüsü, 2024-11-18)Uncontrolled activation of immune pathways, so called immune dysregulation may result in autoimmunity, lymphoproliferation, and malignancy. Apoptosis, nuclear factor-κB (NFκB), and phosphoinositide 3-kinase (PI3K) pathways ... -
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 ... -
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 ... -
Myocilin Mt1 Promoter Polymorphism In Turkish Patients With Primary Open Angle Glaucoma
(Molecular Vision, 2005)Purpose: To evaluate the association of the myocilin gene promoter variant -1000C>G (MYOC.mt1) with primary open angle glaucoma (POAG) and its possible role on the phenotype and the severity of glaucoma in Turkish patients. ... -
Mıs-C Hastalarının Hla Doku Tiplendirmesi ve Genetik Yatkınlıklarının Araştırılması
(Çocuk Sağlığı Enstitüsü, 2023)Büyükcam,A.,Investigation of HLA Tissue Typing and Genetic Predisposition of MIS-C Patients, Hacettepe University Institute of Health Sciences Graduate School Education Master Thesis, Ankara, 2023. Multisystem Inflammatory ...
