Does the hyper IgM phenotype affect prognosis in ataxia telangiectasia?

Objective: To evaluate the characteristics of the patients who were followed-up with the diagnosis of ataxia telangiectasia (AT) and to assess the relationship between the hyper IgM (HIGM) phenotype and their prognosis. Materials and Methods: From 2007 to 2019, the study included 68 patients aged 3-35 years who were followed-up with the diagnosis of AT. We retrospectively evaluated the clinical and immunological characteristics and follow-up results. Results: There were 36 girls and 32 boys with a median follow-up of 10 years (1-12 years). The most common complaints upon admission were unsteady walk in 87%, infection in 6%, presence of a family history in 6%, and intracranial mass in 1%. The marriage was consanguineous in 85% of the parents. Ataxia was seen in 100% of the patients, telangiectasia in 97%, and immune deficiency in 88%. Bronchiectasis was observed in 23.5% of the patients, chronic diarrhea in 19%, lymphoproliferation in 15%, malignancy in 10%, autoimmunity in 10%, liver failure in 6%, and granulomatous skin lesions in 6%. Thirteen patients (19%) died during follow-up. The HIGM phenotype was identified in 31% of the patients. Recurrent upper and lower respiratory tract infections (p=0.004 and p<0.0001, respectively), liver failure (p=0.005), and autoimmune diseases (p=0.023) were significantly higher in the HIGM (+) group than the HIGM (-) group. Life expectancy was shorter in the HIGM (+) group with 14 ± 0.73 years (CI 95% 12.55-15.44) compared to the HIGM (-) group with 18 ± 1.64 years (CI 95% 14.77-21.22) (p=0.054). Conclusion: During the early childhood period and before the characteristic findings of AT develop, the patients might present at a hospital with infections, autoimmunity, lymphoproliferation, or malignancy. Physical examination, high alpha-fetoprotein (AFP) levels and immunological testing provide important data for the correct diagnosis. The HIGM phenotype aggravates the clinical course of the disease resulting in fatalities at an earlier age and at a higher rate

Physiological, Biochemical, and Transcriptional Responses to Single and Combined Abiotic Stress in Stress-Tolerant and Stress-Sensitive Potato Genotypes

Potato production is often constrained by abiotic stresses such as drought and high temperatures which are often present in combination. In the present work, we aimed to identify key mechanisms and processes underlying single and combined abiotic stress tolerance by comparative analysis of tolerant and susceptible cultivars. Physiological data indicated that the cultivars Desiree and Unica were stress tolerant while Agria and Russett Burbank were stress susceptible. Abiotic stress caused a greater reduction of photosynthetic carbon assimilation in the susceptible cultivars which was associated with a lower leaf transpiration rate. Oxidative stress, as estimated by the accumulation of malondialdehyde was not induced by stress treatments in any of the genotypes with the exception of drought stress in Russett Burbank. Stress treatment resulted in increases in ascorbate peroxidase activity in all cultivars except Agria which increased catalase activity in response to stress. Transcript profiling highlighted a decrease in the abundance of transcripts encoding proteins associated with PSII light harvesting complex in stress tolerant cultivars. Furthermore, stress tolerant cultivars accumulated fewer transcripts encoding a type-1 metacaspase implicated in programmed cell death. Stress tolerant cultivars exhibited stronger expression of genes associated with plant growth and development, hormone metabolism and primary and secondary metabolism than stress susceptible cultivars. Metabolite profiling revealed accumulation of proline in all genotypes following drought stress that was partially suppressed in combined heat and drought. On the contrary, the sugar alcohols inositol and mannitol were strongly accumulated under heat and combined heat and drought stress while galactinol was most strongly accumulated under drought. Combined heat and drought also resulted in the accumulation of Valine, isoleucine, and lysine in all genotypes. These data indicate that single and multiple abiotic stress tolerance in potato is associated with a maintenance of CO2 assimilation and protection of PSII by a reduction of light harvesting capacity. The data further suggests that stress tolerant cultivars suppress cell death and maintain growth and development via fine tuning of hormone signaling, and primary and secondary metabolism. This study highlights potential targets for the development of stress tolerant potato cultivars

Magnetic resonance imaging based kidney volume assessment for risk stratification in pediatric autosomal dominant polycystic kidney disease

IntroductionIn the pediatric context, most children with autosomal dominant polycystic kidney disease (ADPKD) maintain a normal glomerular filtration rate (GFR) despite underlying structural kidney damage, highlighting the critical need for early intervention and predictive markers. Due to the inverse relationship between kidney volume and kidney function, risk assessments have been presented on the basis of kidney volume. The aim of this study was to use magnetic resonance imaging (MRI)-based kidney volume assessment for risk stratification in pediatric ADPKD and to investigate clinical and genetic differences among risk groups.MethodsThis multicenter, cross-sectional, and case-control study included 75 genetically confirmed pediatric ADPKD patients (5–18 years) and 27 controls. Kidney function was assessed by eGFR calculated from serum creatinine and cystatin C using the CKiD-U25 equation. Blood pressure was assessed by both office and 24-hour ambulatory measurements. Kidney volume was calculated from MRI using the stereological method. Total kidney volume was adjusted for the height (htTKV). Patients were stratified from A to E classes according to the Leuven Imaging Classification (LIC) using MRI-derived htTKV.ResultsMedian (Q1-Q3) age of the patients was 6.0 (2.0–10.0) years, 56% were male. There were no differences in sex, age, height-SDS, or GFR between the patient and control groups. Of the patients, 89% had PKD1 and 11% had PKD2 mutations. Non-missense mutations were 73% in PKD1 and 75% in PKD2. Twenty patients (27%) had hypertension based on ABPM. Median htTKV of the patients was significantly higher than controls (141 vs. 117 ml/m, p = 0.0003). LIC stratification revealed Classes A (38.7%), B (28%), C (24%), and D + E (9.3%). All children in class D + E and 94% in class C had PKD1 variants. Class D + E patients had significantly higher blood pressure values and hypertension compared to other classes (p &gt; 0.05 for all).DiscussionThis study distinguishes itself by using MRI-based measurements of kidney volume to stratify pediatric ADPKD patients into specific risk groups. It is important to note that PKD1 mutation and elevated blood pressure were higher in the high-risk groups stratified by age and kidney volume. Our results need to be confirmed in further studies

2002-2015 yılları arasında Türkiye’nin enerji politikası ve bu politikanın türk imalat sanayisindeki yeri ve geleceği

Dünyanın mevcut enerji kaynakları ile elde edilen enerjinin verimli bir şekilde kullanılması ekonomi açısından önemli katkılar sağlamaktadır. Enerjinin verimli bir şekilde kullanılması imalat sanayinde daha az enerjinin kullanımını sağlamakla beraber, ülke ekonomisi için bir zorunluluktur. Türkiye’nin sürdürülebilir bir kalkınma potansiyeline sahip olabilmesi için sürekli ve kaliteli bir enerji arzına sahip olması gerekmektedir. Türkiye’nin mevcut enerji potansiyeli ve bu enerji potansiyelinin değerlendirilmesi için uygulanan Beşer Yıllık Kalkınma Planları, kullanılan enerjinin %70 nin ithalat yoluyla karşılanması göz önüne alındığında doğalgaz ve petrol boru hatları projeleriyle Asya’daki ve Orta Doğudaki enerjinin Avrupa’ya taşınmasında köprü konumunda olmasının yanı sıra sahip olduğu jeolojik özellikler nedeniyle yenilenebilir enerji kaynakların değerlendirilmesinde özellikle elektrik enerjisinin elde edilmesinde ve bu enerjinin imalat sanayisin de kullanılması için uygulanan politikalar. Türkiye’nin sanayileşme rekabeti içerisinde olan ülkeler içerisinde yer alabilmesi için, çevreye zarar vermeden en az maliyetle enerji kaynaklarına sahip olabilmesi ve bu enerji kaynaklarını etkin şekilde kullana bilmesi için uygulaması gereken politikalar bu tezin ana konusudur. Çalışmada ayrıca enerji piyasasında enerji arz ve talebinin oluşması ve bu piyasanın oluşmasında etkili olan faktörler, enerji piyasasının oluşması ve bu piyasanın oluşmasında devletin yanında özel sektörün etkilerine de değinilmiştir.--------------------Using efficiently the world’s generated energy sources makes significants contribution to the economy. The efficient use of energy is a necessity for the country’s economy, as it provides less energy use in manufacturing industry. Turkish development energy potential has to have a sustainable quality energy supply. Existing energy potential of Turkey and applied Five Years Development Plans for the assessment of the energy potential imports in the 70%of the energy used considering in Asia with natural gas and oil pipeline projects and carriage the Middle East's energy to Europe, as well as being a bridge in the evaluation of renewable energy sources due to their geological features, especially in the acquisition of electricity and the use of this energy in the manufacturing industry policies. Countries that are taking place in Turkey's industrialization competition, to be at the least cost energy resources without damaging the environment and the occurrence of these energy efficient policies is the main subject of this thesis. The study also deals with the formation of energy supply and demand in the energy market and the factors that are influential in the formation of this market, the formation of the energy market and the effects of the private sector as well as the state in the formation of this market

Respiratuvar distres sendromlu prematüre bebeklerde sitokin, kompleman düzeylerinin ve akut faz reaktanlarının rds şiddeti, ventilatör ilişkili pnömoni ve mekanik ventilasyon yöntemi ile ilişkisi

TEZ6729Tez (Uzmanlık) -- Çukurova Üniversitesi, Adana, 2008.Kaynakça (s.107-114) var.viii, 115 s. ; 29 cm.Objective: To evaluate the correlations between levels of cytokines (IL-4, IL-8, IL-10, IL-13), complements (C3, C4) and acute phase reactants (CRP, procalcitonin) in tracheal aspirate samples with severity of RDS, type of ventilation and risk for development of ventilator associated pneumonia. Material-methods: Thirty eight infants at less than 32 weeks of gestation and birth weight lower 1500 gr with RDS were enrolled in the study. Tracheal aspirate samples were collected on 1, 3. and 7. days of life during mechanical ventilation. Twenty five patients received HFOV whereas 13 patients underwent CV. Ventilator associated pneumonia occured in 11 patients. Mechanical ventilation methods were compared in 27 patients without VİP. Results: IL-4 levels were statistically lower in VİP group compared to non-VİP group on the 7th day of life (p0,05).Bu çalışma Ç.Ü. Bilimsel Araştırma Projeleri Birimi Tarafından Desteklenmiştir. Proje No: TF2006LTP3

Role of Proteinuria, Hypertension, Inflammation and Predictive Value of Cystatin C in Development of Reflux Nephropathy in Children with Vesicoureteral Reflux.

TEZ9518Tez (Yandal Uzmanlık) -- Çukurova Üniversitesi, Adana, 2011.Kaynakça (s. 64-72) var.viii, 85 s. : tablo ; 29 cm.Amaç: Bu çalışmada vezikoüreteral reflülü çocuklarda reflü nefropatisi gelişiminde proteinüri, inflamasyon ve hipertansiyonun rolü, sistatin C’nin prediktif etkisinin belirlenmesi amaçlandı. Gereç ve Yöntem: Bu çalışma Eylül 2009 ile Mayıs 2011 tarihleri arasında Çukurova Üniversitesi Tıp Fakültesi Çocuk Nefroloji Bilim Dalında vezikoüreteral reflü tanısıyla takip edilen 93 hasta ile prospektif olarak yapıldı. Hastaların demografik verileri kaydedildi. Kan ve zamanlı idrar örnekleri alındı. Hemogram, kan ve idrar biyokimyası, eritrosit sedimentasyon hızı, C-reaktif protein, prokalsitonin, interlökin-18 ve sistatin C çalışıldı. Kreatinin klirensi, Schwartz, Hoek ve Larsson formülleri ile glomerüler filtrasyon hızları hesaplandı. Yaşam içi kan basıncı izlemi yapıldı ve LMS metoduna göre z skorları hesaplandı. Mikroalbuminüri varlığına göre hastalar iki gruba ayrıldı. İstatistiksel analizleri yapıldı. Bulgular: Mikroalbuminürik grupta skar ve antihipertansif ilaç alım oranı, BUN, kreatinin, sistatin C değerleri yüksek, dört formülle de hesaplanan glomerüler filtrasyon hızları düşük; 24 saatlik sistolik ve diyastolik, gece sistolik, 24 saatlik, gündüz ve gece ortalama kan basıncı ölçümleri yüksek bulundu. Diğer parametrelerde ise istatiksel açıdan anlamlı fark bulunmadı. Sonuç: Proteinüri varlığında skar derecesinin ve hipertansiyonun arttığı, bu artışın özellikle ortalama kan basıncında belirgin olduğu, glomerüler filtrasyon hızının azaldığı gözlendi. Sistatin C böbrek fonksiyonu ve prognoz tayininde hassas bir gösterge olabilir. Sistatin C’ye dayalı glomerüler filtrasyon hızı ölçümleri, Schwartz ve kreatinin klirensine iyi birer alternatif olabilir. Eritrosit sedimentasyon hızı, C-reaktif protein, prokalsitonin ve interlökin-18 reflü nefropatisinde etkili bulunmadı. Riskli grupların proteinüri, sistatin C ve yaşam içi kan basıncı izlemi ile takibi daha uygundur.Aim: To investigate the role of proteinuria, hypertension, inflammation and predictive value of cystatin C in development of reflux nephropathy in children with vesicoureteral reflux. Material-Methods: This prospective study was designed in 93 patients following with a diagnosis of vesicoureteral reflux in Pediatric Nephrology Department of Cukurova University Hospital between the years of 2009 and 2011. Demographic data of the patients were recorded. Blood and timely urine samples were taken. Complete blood count, blood and urine chemistry, erithrocyte sedimentation rate, C-reactive protein, procalcitonin, Interleukin-18 and cystatin C were all analysed. Glomerular filtration rates were calculated according to Schwartz, Hoek and Larsson formulas and also creatinine clearence. Ambulatory blood pressure monitorization was applied to whole patients and z scores were calculated with LMS method. The patients were divided into two groups according to presence of microalbuminuria. Statistical analyses was done. Results: Incidence of scarring and antihypertensive medication and level of serum BUN, creatinine were higher whereas glomerular filtration rates calculated with both of four formulas were lower in microalbuminuric patients. Cystatin C based formulas might be an alternative of Scwartz and creatinine clearence. 24 hour systolic and diastolic; night systolic and 24 hour, day and night mean arteriel pressures were higher in these patients. Other parameters were not statistically significant. Conclusion: Existence of proteinuria increases the severity of scarring, hypertension particularily mean arterial pressure and also decreases glomerular filtration rates. Cystatin C might be a useful marker for predicting renal function and prognosis. Cystatin-C based GFR formulas might be an alternative for Schwartz and creatinine clearence. Erithrocyte sedimentation rate, C-reactive protein, procalcitonin, Interleukin-18 might not have a good predictive value in reflux nephropathy. Follow-up of high risk patients with proteinuria, cystatin C and ambulatory blood pressure monitorization seem to be reasonable.Bu çalışma Ç.Ü. Bilimsel Araştırma Projeleri Birimi tarafından desteklenmiştir. Proje No: TF2009BAP22

Türkiye’de bağımsız denetim ve BDS 701 kilit denetim konularının bağımsız denetçi raporunda bildirilmesinin raporlardaki etkisi üzerine bir analiz

Yapılan detaylı araştırmalar neticesinde denetimin kökeninin çok eskilere dayandığı görülmektedir. Mezopotamya’da hüküm süren kralların, kraliyet tahıl ambarını sayması ve burada çalışmakta olanları kontrol etmesi için bir kişi görevlendirdikleri görülmektedir. Bu kişinin yapmış olduğu faaliyet denetimin ilk adımı niteliğindedir. Kökeni bu kadar eskiye giden denetim, günümüze kadar gelişme göstermiştir. Özellikle 2000’li yılların başında yaşanan skandallar ve ekonomik krizler yeni düzenlemeler yapılmasına yol açmıştır. Türkiye’de bağımsız denetim ise dünyada yaşanan gelişmelere paralel ilerlemiş ve bugünkü halini almıştır. Bağımsız denetimle ilgili önemli düzenlemelerden biri de bağımsız denetim standartlarının oluşturulmasıdır. Bu anlamda IFAC (Uluslararası Muhasebeciler Federasyonu) bünyesinde faaliyet gösteren IAASB (Uluslararası Denetim ve Güvence Standartları Kurulu) tarafından düzenlenen bağımsız denetim standartları dilimize çevrilerek KGK (Kamu Gözetimi Muhasebe ve Denetim Standartları Kurumu) tarafından yayımlanmıştır. -------------------- As a result of the detailed surveys, it is seen that the origin of the audit is very old. The kings, who ruled in Mesopotamia, were assigned a person to count the royal grain warehouse and to chheck the ones working there. The activity of this person is the first step of the audit. The audit, whose origin has been so old, has improved to the present day. Especially the scandals and economic crises experienced in the beginning of 2000s led to new regulations. The independent auditing in Turkey to receive the parallel developments in the world has progressed and present state. One of the important regulations regarding independent auditing is the establishment of independent auditing standards. In this sense, the independent auditing standards issued by the IAASB (International Auditing and Assurance Standards Board) under IFAC (International Federation of Accountants) have been translated into Turkish and published by the Public Oversight Accounting and Auditing Standards Authority

Studying and teaching international law: An analysis of international law education and literature in early Republican Turkey (1923-1945)

Bu tezde ilk olarak uluslararası hukuk eğitiminin Türkiye'de erken cumhuriyet döneminde kimler tarafından, ne şekilde, hangi kurumlarda verildiği, Osmanlı İmparatorluğu döneminde verilen uluslararası hukuk eğitimi ile benzerlikleri/ farklılıkları ve imparatorluktan cumhuriyete geçişte uluslararası hukuk eğitiminde devamlılık/değişimlerin neler olduğu sorularına yanıt aranacaktır. Bu çerçevede bu tez Türkiye'de uluslararası hukuk eğitiminin Osmanlı İmparatorluğu'ndan tevarüs eden kurumsal ve kuramsal bazı devamlılıklar gösterdiğini, ancak cumhuriyete geçişle beraber gerek yeni kurumların tesisi veya eski kurumların reformu, gerekse hukuk eğitiminin cumhuriyet ideallerine göre yeniden tasarlanması ile önemli farklılıkların da ortaya çıktığını iddia etmektedir. Bu tezde ikinci olarak Türk uluslararası hukuk akademyasının erken cumhuriyet döneminde hangi konuları tartıştığı, bu konuların Avrupa'daki tartışmaları takip edip etmediği ve uluslararası hukuk literatürünün gelişiminde Türkiye'nin dış politika sorunlarının nasıl bir rol oynadığı sorularına yanıt aranacaktır. Bu dönemde az sayıda özgün uluslararası hukuk tartışması yapılmış olmakla birlikte büyük ölçüde Avrupa'daki literatür takip edilmiş; ancak literatürde ağırlığı Türk dış politikasının birçoğu Lozan Antlaşması ile doğrudan ya da dolaylı olarak alakalı meselelerinin hukuki analizi oluşturmuştur.This thesis first aims to examine international law education in Turkey in the early republican period, by focusing on the academia and educational institutions in order to seek for similarities/differences between international law education in the Ottoman Empire and early republican Turkey as well as continuities and changes in this regard. Within this framework, this thesis claims that international law education in early Republican Turkey had institutional and theoretical continuities inherited from the Ottoman Empire. However, still, transformation from imperial to republican mentality via reforming old institutions, establishing new ones and redesigning international law education in line of republican ideals show that there are significant differences as well. This thesis secondly analyzes international law literature in early republican Turkey by focusing on the themes related on international law, and by questioning whether the Turkish academia had followed international law debates in Europe. Moreover, it also looks for the impact of Turkish foreign policy issues on international law literature. Accordingly, the thesis claims that the Turkish internatinonal law academia generally followed European debates of international law in the interwar period despite some attempts for creating an original debate in the literature. Also, it argues that the Turkish international law literature in this period was dominated by legal analysis of Turkish foreign policy issues, directly or indirectly related to the Treaty of Lausanne

Türkiye’de bağımsız denetim ve BDS 701 kilit denetim konularının bağımsız denetçi raporunda bildirilmesinin raporlardaki etkisi üzerine bir analiz

Yapılan detaylı araştırmalar neticesinde denetimin kökeninin çok eskilere dayandığı görülmektedir. Mezopotamya’da hüküm süren kralların, kraliyet tahıl ambarını sayması ve burada çalışmakta olanları kontrol etmesi için bir kişi görevlendirdikleri görülmektedir. Bu kişinin yapmış olduğu faaliyet denetimin ilk adımı niteliğindedir. Kökeni bu kadar eskiye giden denetim, günümüze kadar gelişme göstermiştir. Özellikle 2000’li yılların başında yaşanan skandallar ve ekonomik krizler yeni düzenlemeler yapılmasına yol açmıştır. Türkiye’de bağımsız denetim ise dünyada yaşanan gelişmelere paralel ilerlemiş ve bugünkü halini almıştır. Bağımsız denetimle ilgili önemli düzenlemelerden biri de bağımsız denetim standartlarının oluşturulmasıdır. Bu anlamda IFAC (Uluslararası Muhasebeciler Federasyonu) bünyesinde faaliyet gösteren IAASB (Uluslararası Denetim ve Güvence Standartları Kurulu) tarafından düzenlenen bağımsız denetim standartları dilimize çevrilerek KGK (Kamu Gözetimi Muhasebe ve Denetim Standartları Kurumu) tarafından yayımlanmıştır. --------------------As a result of the detailed surveys, it is seen that the origin of the audit is very old. The kings, who ruled in Mesopotamia, were assigned a person to count the royal grain warehouse and to chheck the ones working there. The activity of this person is the first step of the audit. The audit, whose origin has been so old, has improved to the present day. Especially the scandals and economic crises experienced in the beginning of 2000s led to new regulations.The independent auditing in Turkey to receive the parallel developments in the world has progressed and present state. One of the important regulations regarding independent auditing is the establishment of independent auditing standards. In this sense, the independent auditing standards issued by the IAASB (International Auditing and Assurance Standards Board) under IFAC (International Federation of Accountants) have been translated into Turkish and published by the Public Oversight Accounting and Auditing Standards Authority