Browsing Tıp Fakültesi / Faculty of Medicine by Title
Now showing items 3315-3334 of 5168
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Novel inflammatory targets for immunotherapies in pediatric patients with trichotillomania
(2020)Immune dysregulation may be important in the etiology of obsessive-compulsive and related disordersandbody-focusedrepetitivebehaviors, such as Trichotillomania (TTM). The role of inflammation and inflammatory markers in ... -
A Novel Model of Mouse-to-Rat Kidney Xenotransplantation
(2017)Transplantation animal models require 2 animals for each experiment, 1 as a donor and 1 as a recipient. At the present time, developing microsurgical instruments and refining surgical techniques should allow us to reduce ... -
A novel mutation c.2010delG of CLCN5 gene associated with Dent disease-1 in an 11-year-old male with nephrolithiasis and nephrocalcinosis
(2018)Dent's disease-1 (CLCN5 gene) is a rare X-linked recessive tubulopathy characterized by low molecular weight proteinuria, hypercalciuria, nephrolcalcinosis or nephrolithiasis, proximal tubular dysfunction and renal failure ... -
A novel mutation in TRMT5 associated with idiopathic non-cirrhotic portal hypertension and hepatopulmonary syndrome: Case report of two siblings
(2022)Non-cirrhotic portal hypertension (NCPH) is a rare clinical entity in children. Familial clusters of idiopathic non-cirrhotic portal hypertension (INCPH) were previously reported in cases with deoxyguanosine kinase (DGOUK) ... -
A novel mutation in two cousins with guanidinoacetate methyltransferase (GAMT) deficiency presented with autism
(2019)Guanidinoacetate methyltransferase (GAMT) deficiency is a rare autosomal recessive disorder of creatine biosynthesis. Here, we report 9 and 10-year-old cousins with GAMT deficiency caused by a novel mutation who both ... -
A novel mutation of ABHD5 gene in a Chanarin Dorfman patient with unusual dermatological findings
(2019)Background: Chanarin Dorfman Syndrome (CDS) is a rare autosomal recessive disorder characterized by the multisytemic accumulation of neutral lipids inside the cytoplasmic lipid droplets. This condition is caused by mutations ... -
A novel mutation of Dent's disease in an 11-year-old male with nephrolithiasis and nephrocalcinosis
(2018)Dent's disease is a rare X-linked recessive tubulopathy characterized by low molecular weight (LMW) proteinuria, hypercalciuria, nephrolcalcinosis or nephrolithiasis, proximal tubular dysfunction and renal failure in ... -
Novel Mutations in Obesity-related Genes in Turkish Children with Non-syndromic Early Onset Severe Obesity: A Multicentre Study
(2019)Objective: Non syndromic monogenic obesity is a rare cause of early onset severe obesity in the childhood period. This form may not be distinguishable from other forms of severe obesity without genetic analysis, particularly ... -
Novel non-synonymous polymorphisms in the COX-1 gene in Turkish pediatric patients with cardiovascular anomalies
(2014)Variation in the gene encoding cyclooxygenase-1 (COX-1) is involved in the process of aspirin resistance. This study investigated the genetic variations in the COX-1 gene. The 4 coding regions of the human COX-1 gene in ... -
A novel prediction method for lymph node involvement in endometrial cancer: machine learning
(2019)Objective The necessity of lymphadenectomy and the prediction of lymph node involvement (LNI) in endometrial cancer (EC) have been hotly-debated questions in recent years. Machine learning is a broad field that can produce ... -
Novel pyrrolopyrimidine derivatives induce p53-independent apoptosis via the mitochondrial pathway in colon cancer cells
(2020)A series of novel pyrrolopyrimidine urea derivatives were synthesized and evaluated for their anticancer activity against colon cancer cell lines. Compounds showed the remarkable cytotoxic activity on HCT-116 wt cell line. ... -
A Novel Simplified Combination of Monoclonal Antibodies for Flow Cytometric Analysis of Bronchoalveolar Lavage Samples
(2019)Background: The profile of leukocytes in bronchoalveolar lavage (BAL) fluid provides important information for diagnosing various lung diseases. A differential cell count of BAL is conventionally performed by evaluating ... -
A Novel Technique for Detection and Suturing of Biliary Fistula in a Giant Hydatid Cyst: Video-assisted Biliary Fistula Suturing in Hydatid Cyst
(2016)Hydatid disease remains an important health problem in endemic areas; and by the way of travel and immigration, it can also be encountered in non-endemic areas. The most common cases with complications following hydatid ... -
A Novel Technique for Prediction of Preterm Birth: Fetal Nasal Flow Doppler
(2021)Objectives: Absence of fetal breathing movements (FBM) has been found to be a good predictor of preterm delivery in symptomatic patients. However, analysis of FBM patterns and Doppler measurement of them for preterm birth ... -
A Novel Therapeutic Approach for Renal Transplant Recipient with Septic Shock and Acute Kidney Injury: A Case Report
(2021)Extracorporeal blood purification (EBP) therapies, using oXiris (R) haemofilter, are popular and used globally in intensive care units for management of patients with septic acute kidney injury (AKI). Herein, we present a ... -
Novel variant of dual left anterior descending artery arising from single right coronary artery anomaly presenting with angina inversa
(2015)A 55-year-old female without a history of coronary artery disease, hypertensive for the past 17 years, was admitted with resting chest pain. Electrocardiography revealed a negative T-wave in anterior chest leads. Coronary ... -
De Novo Malignant Neoplasms in Renal Transplant Patients
(2016)Objectives: The aim of this study was to evaluate the incidence of posttransplant malignancy in kidney transplant patients and investigate the clinical and histopathologic features of these patients. Materials and ... -
De Novo Thrombotic Microangiopathy in Renal Transplant Patients
(2018)Objectives: Thrombotic microangiopathy is a form of renal capillary injury possibly associated with calcineurin inhibitor toxicity, acute humoral rejection, infections, and recurrent diseases. Here, we examined its incidence ...
