Tip 1 Diyabetes Mellituslu Çocuklarda Tanı Anındaki Klinik ve Laboratuvar Bulgularının Değerlendirilmesi

Objective: The aim of our study is to evaluation of clinical and laboratory findings at the time of diagnosis in children with Type 1 Diabetes Mellitus (T1DM). Methods: In this study, 142 children diagnosed with T1DM who were referred to Pediatric Endocrinology Policlinic and Emergency Policlinic of Dicle University Medical Faculty between 2013 and 2016 were evaluated. Retrospectively, the sociodemographic characteristics, symptoms and laboratory findings of the patients were recorded from the files. All the data obtained were evaluated statistically. Results: Sixty two (43.66%) of the patients were girls. The mean age was 10,10 ± 1,39 years. The blood glucose level at diagnosis was 425,85 ± 12,51 mg/dl and HbA1c was 13,57 ± 3,77. Anti-Glutamate Decarboxylase (anti-GAD) positivity was detected in 47.8% of the cases. 18.3% of the patients had a T1DM story in their family. Patients were diagnosed mostly in January (12.6%) and November (11.9%). 83.8% of cases had both polyuria and polydipsia, 41.5% had consciousness level change and 6.3% had coma. Ketoacidosis was present in 43% of the patients at the time of admission, ketosis in 48.5% and only hyperglycemia in 8.5%. Conclusion: Type 1 DM is mostly observed in adolescence. The most common symptoms of the disease are polyuria and polydipsia. For this reason the community needs to be educated that polyuria and polydipsia may have T1DM findings. Awareness of the community in this issue can reduce the frequency of diabetic ketoacidosis, the most important complication of diabetes

A Real-Life Turkish Experience of Ruxolitinib in Polycythemia Vera

Introduction:Ruxolitinib is a small -molecule inhibitor of the JAK1/2 pathway. This study aimed to reveal the results and side-effect profile of the use of ruxolitinib as a treatment option in polycythemia vera (PV).Methods:A total of 34 patients with PV from 18 different centers were included in the study. The evaluation of the response under treatment with ruxolitinib was determined as a reduction in spleen volume (splenomegaly size: ≥35%) by imaging and control of hematocrit levels (≤45%) compared to baseline.Results:While the number of patients in which a reduction in spleen volume and hematocrit control was achieved was 19 (55.9%) at 3 months of treatment, it was 21 (61.8%) at 6 months. Additionally, while the number of side effects was negatively correlated with the reduction in spleen volume (Spearman’s rho: -0.365, p=0.034), a decrease in the hematocrit level was positively correlated (Spearman’s rho: 0.75, p=0.029). Those without a reduction in spleen volume experienced more constipation (chi-square: 5.988, Fisher’s exact test: p=0.033).Conclusion:This study shed light on the use of ruxolitinib in PV and the importance of splenomegaly on studies planned with larger patient groups

Developing a Method Based on Multiplex Real-Time PCR for Rapid Detection of Some Trichophyton Species are Clinically İmportant

Bu çalışma çerçevesinde, insanların deri, saç ve tırnakları gibi vücut bölgelerinde dermatolojik anlamda patojen olan Trichophyton genusuna mensup olan 6 dermatofitin geleneksel kültürasyon yöntemlerine nazaran moleküler kapsamda çok daha hızlı ve doğru tanılaması amaçlanmıştır. Trichophyton genusuna ait olan; Trichophyton interdigitale, Trichophyton mentagrophytes, Trichophyton rubrum, Trichophyton tonsurans, Trichophyton verrucosum ve Trichophyton violaceum türlerinin daha önce hiçbir bilimsel çalışmada olmayan, spesifik primer ve prob oligonükleotid genetik sekanslarının in silico formatta tasarlanması amaçlanmıştır. Dermatofit küflerinin her biri için ayrı ayrı; Aktin, ATP6, Beta-Tubulin, IGS-1, ITS-1, ITS-2, ITS-3, ITS-4, Kalmodulin, NTS, RPB-1, RPB-2 ve TEF-1α gibi barkod genleri ile varsa özgün başka bir gen bölgesine yönelik çalışmalar yapılması planlanmıştır. Trichophyton interdigitale için NTS, Trichophyton mentagrophytes, V Trichophyton tonsurans, Trichophyton verrucosum ve Trichophyton violaceum türleri için ITS-1 ve Trichophyton rubrum için ITS-2 gen bölgelerini hedefleyen, maksimum seviyede özgünlüğe sahip ve hedef türlere spesifik olan primer ve prob dizileri, çeşitli veri tabanları kullanılarak in silico kapsamda tasarlanmış ve Multiplex Real-Time PCR reaksiyonları ile de tasarım sonuçlarının tam bir başarı ile çalıştığı tespit edilmiştir. Multiplex Real-Time PCR reaksiyonları ile hedef türlerin her biri için tespit limitleri ve analitik duyarlılıkları belirlenmiş, bilgileri bulunan referans bakteriyel ve fungal suşlar ile hedef türlerin her birinin çapraz reaksiyonlar vermediği tespit edilmiş ve filogenetik analizler hedef türlerin tamamı için gerçekleştirilmiştir. Geleneksel kültür ve biyokimyasal tanılama yöntemlerine nazaran çok daha doğru ve hızlı tanılama imkanı veren moleküler genetik yöntemler kapsamına giren bu çalışma ile dermatofitoz enfeksiyonu geçiren hastalardan alınan klinik materyallerde ilgili hedef dermatofitlerin bulunması durumunda, bu tez kapsamında türe özgü tasarlanan primer ve prob setleri kullanılarak klinisyenlere çok hızlı bir tanı koyma ve çok daha erken bir zaman diliminde tedaviye başlama imkanı sunulabileceği öngörülmektedir.This study aims to diagnose the 6 dermatophytes belonging to the Trichophyton genus, which is dermatologically pathogen, in human body parts such as skin, hair and nails, much faster and more accurately compared to traditional culture methods in a molecular scope. It is aimed to design ever first specific primary and probe oligonucleotide genetic sequences of Trichophyton interdigitale, Trichophyton mentagrophytes, Trichophyton rubrum, Trichophyton tonsurans, Trichophyton verrucosum and Trichophyton violaceum species belonging to the Trichophyton genus, in silico format. It is planned to carry out separate studies for each dermatophyte mold on barcode genes as Actin, ATP6, Beta-Tubulin, IGS-1, ITS-1, ITS-2, ITS-3, ITS-4, Calmodulin, NTS, RPB-1, RPB-2 and TEF-1α together with, if any, another unique gene region. Primer and probe sequences which are specific to target species with maximum specificity level and target NTS gene regions for Trichophyton interdigitale, VII ITS-1 gene regions for Trichophyton mentagrophytes, Trichophyton tonsurans, Trichophyton verrucosum and Trichophyton violaceum species and ITS-2 gene regions for Trichophyton rubrum are designed in silico by using various databases and with Multiplex Real-Time PCR reactions, it was determined that the design results work with full success. With Multiplex Real-Time PCR reactions, detection limits and analytical sensitivities were determined for each of the target species, it was determined that each of the reference bacterial and fungal strains and target species did not show cross reactions, and phylogenetic analyses were performed for all of the target species. Being one of the genetic methods providing much faster and more accurate diagnosis compared to traditional culture and biochemical diagnostic methods, this study will enable the clinicians to diagnose the patients with dermatophytosis infection much faster and start treatment at a much earlier time by using our species-specific designed primer and probe sets, if any target dermatophytes are available in the clinical materials taken from the concerned patients

Clinical and molecular evaluation of MEFV gene variants in the Turkish population: a study by the National Genetics Consortium

Familial Mediterranean fever (FMF) is a monogenic autoinflammatory disorder with recurrent fever, abdominal pain, serositis, articular manifestations, erysipelas-like erythema, and renal complications as its main features. Caused by the mutations in the MEditerranean FeVer (MEFV) gene, it mainly affects people of Mediterranean descent with a higher incidence in the Turkish, Jewish, Arabic, and Armenian populations. As our understanding of FMF improves, it becomes clearer that we are facing with a more complex picture of FMF with respect to its pathogenesis, penetrance, variant type (gain-of-function vs. loss-of-function), and inheritance. In this study, MEFV gene analysis results and clinical findings of 27,504 patients from 35 universities and institutions in Turkey and Northern Cyprus are combined in an effort to provide a better insight into the genotype-phenotype correlation and how a specific variant contributes to certain clinical findings in FMF patients. Our results may help better understand this complex disease and how the genotype may sometimes contribute to phenotype. Unlike many studies in the literature, our study investigated a broader symptomatic spectrum and the relationship between the genotype and phenotype data. In this sense, we aimed to guide all clinicians and academicians who work in this field to better establish a comprehensive data set for the patients. One of the biggest messages of our study is that lack of uniformity in some clinical and demographic data of participants may become an obstacle in approaching FMF patients and understanding this complex disease