Orman genetiği ve biyoteknolojisi

Son yıllarda orman ağaçlarında yürütülen biyoteknoloji ve genomik çalışmalarının sayısı hızlı bir şekilde artmaktadır. Biyoteknolojik uygulamalardan doku kültürü ve klonal çoğaltım, genetik markörler, gen transfer teknolojileri ile genomik teknolojileri yaygın olarak kullanılmaktadır. Biyoteknoloji alanında etkili ve pratik tekniklerin gelişimi ile bazı orman ağaç türlerinin genom dizilerinin tamamlanması, bu hızlı gelişim sürecinde önemli faktörlerdir. Bu teknikler ve çalışmalar, orman ağaçları ıslahı projelerine büyük katkılar sağlamıştır. Bu çalışmalar sonucunda, orman ağaçlarında yeni gen bölgelerinin bulunması, gen transferleri, genetik haritaların oluşturulması, klonal çoğaltım ve odun kalitesinin artırılması gibi gelişmeler gerçekleştirilmiştir. Özellikle orman ağaçlarında büyüme ve odun özellikleri ile ilgili genler daha ilgi çekmektedir. Kavak ağacının (Populus trichocarpa) genom dizilenmesiyle elde edilen yaklaşık 45.000 genden oluşan kaynak, genomik araştırmalara büyük katkı sağlamıştır. Böylece yeni gen keşifleri, QTL analizleri, genetik modifikasyonlar ve EST dizilemeleri kolaylaşmıştır. Ayrıca bu çalışmalar, özel çevresel koşullara dayanıklı ağaç türleri geliştirmeye de yardımcı olmaktadır. Bu derlemede, orman ağaçlarında biyoteknolojik ve genetik temelli teknuolojilerin uygulama alanları ile bu teknolojilerin hedefleri ve sürdürülebilir ormancılık uygulamalarına katkıları değerlendirilmiştir. Anahtar kelimler: Orman genetiği, Orman biyoteknolojisi, Ağaç ıslahı, Doku kültür

Forest genetics and biotechnology

Son yıllarda orman ağaçlarında yürütülen biyoteknoloji ve genomik çalışmalarının sayısı hızlı bir şekilde artmaktadır. Biyoteknolojik uygulamalardan doku kültürü ve klonal çoğaltım, genetik markörler, gen transfer teknolojileri ile genomik teknolojileri yaygın olarak kullanılmaktadır. Biyoteknoloji alanında etkili ve pratik tekniklerin gelişimi ile bazı orman ağaç türlerinin genom dizilerinin tamamlanması, bu hızlı gelişim sürecinde önemli faktörlerdir. Bu teknikler ve çalışmalar, orman ağaçları ıslahı projelerine büyük katkılar sağlamıştır. Bu çalışmalar sonucunda, orman ağaçlarında yeni gen bölgelerinin bulunması, gen transferleri, genetik haritaların oluşturulması, klonal çoğaltım ve odun kalitesinin artırılması gibi gelişmeler gerçekleştirilmiştir. Özellikle orman ağaçlarında büyüme ve odun özellikleri ile ilgili genler daha ilgi çekmektedir. Kavak ağacının (Populus trichocarpa) genom dizilenmesiyle elde edilen yaklaşık 45.000 genden oluşan kaynak, genomik araştırmalara büyük katkı sağlamıştır. Böylece yeni gen keşifleri, QTL analizleri, genetik modifikasyonlar ve EST dizilemeleri kolaylaşmıştır. Ayrıca bu çalışmalar, özel çevresel koşullara dayanıklı ağaç türleri geliştirmeye de yardımcı olmaktadır. Bu derlemede, orman ağaçlarında biyoteknolojik ve genetik temelli teknuolojilerin uygulama alanları ile bu teknolojilerin hedefleri ve sürdürülebilir ormancılık uygulamalarına katkıları değerlendirilmiştir.The number of biotechnology and genomics studies related to forest trees has increased rapidly in recent years. Biotechnological applications of tissue culture and clonal propagation, genetic markers, gene transfer technologies and genomic technologies are widely used. Development of effective and practical techniques in the field of biotechnology and the completion of some forest tree species genome sequences are important factors in this rapid development process. These techniques and studies have made great contributions to projects of breeding of forest trees. As a result of these studies, such as found new gene regions, gene transfers, the creation of genetic maps, clonal propagation and improving the quality of wood in forest trees were carried out. Especially, genes which include growth and wood properties of forest trees are attracting more interest. Source of about 45,000 genes by sequencing of genome of poplar tree (Populus trichocarpa) has provided a major contribution to genomic research. Thus, new gene discovery, QTL analysis, genetic modifications and EST sequencing is easy. Moreover, these studies also help to develop a special tree species resistant to particular environmental conditions. In this review, application areas of biotechnology and genetic-based technologies in forest trees, objectives of these technologies and contributions of sustainable forestry practices were assessed

Musculoskeletal system diseases in geriatric patients

Normal yaşlanma seyrinde eklem, kas, tendon ligaman ve kemiklerde bir dizi değişiklik oluşmaktadır. Geriatrik toplumda kas iskelet sistemi hastalıkları çok sık görülmekte ve yaşam kalitesini bozmaktadır. Bu hastalıkların sıklığını araştırmak için 2002-2003 yıllarında polikliniğimize müracat eden 9500 hastanın dosyaları retrospektif olarak tarandı. 60 yaş ve üzerindeki hastalarda hangi hastalıkların ne sıklıkla görüldüğü, hastalıkların kadın ve erkeklerdeki dağılımı ve yapılan tedaviler araştırıldı. Tüm hastaların 1451’i (% 15.7) 60 yaş üzerindeydi. Bu hastaların 1049’u kadın (%72,2), 402’si erkekti( %27,7). Hastaların yaş ortalaması 68,3 ± 6,2 idi. Genel olarak en sık rastlanan sorunlar dejeneratif eklem hastalıkları ( %72), osteoporoz (%22), yumuşak doku romatizmaları(%16) idi. Dejeneratif eklem hastalıklarından lomber bölge birinci sırada yer alırken, yumuşak doku romatizmalarında birinci sırada myofasial ağrı sendromu vardı. Çalışma sonunda 60 yaş üzerinde populasyonda genellikle dejeneratif hastalıkların ön planda olduğu sonucuna varıldı.There are some changes occur in joints, muscles, tendons, ligaments and bones while normal aging process. Obesity, elderly and concomittant diseases can alter this changes into disorders. Musculoskeletal system diseases are seen frequently in geriatric population and impair quality of life. In order to investigate the frequency of these diseases, medical files of 9500 patients who admitted our outpatient clinic between years 2002 and 2003 were inquired retrospectively. Types and frequencies of the diseases which seen above 60 years old and distribution of these diseases and treatments administered were investigated. One thousand four hundred fifty-one (15.9%) from all evaluated cases were above 60 years of ages. 1049 (72.2%) of 1451 patients were women and 402 (27.7%) were men. The mean age was 68.3 (6.2 SD) years. The most frequent disorders were degenerative joint diseases (72%), osteoporosis (22%) and soft tissue rheumatic disorders (16%). Lumbar region was the most common site of degenerative disorders and myofascial pain was the most frequently seen soft tissue rheumatism. In conclusion, it was suggested that degenerative diseases were seen foremost in elderly population aged above 60 year

Mitochondrial iron transporter (MIT) gene in potato (Solanum tuberosum): comparative bioinformatics, physiological and expression analyses in response to drought and salinity

Mitochondrial iron transporter (MIT) genes are essential for mitochondrial acquisition/import of iron and vital to proper functioning of mitochondria. Unlike other organisms, research on the MITs in plants is limited. The present study provides comparative bioinformatics assays for the potato MIT gene (StMIT) as well as gene expression analyses. The phylogenetic analyses revealed monocots-dicot divergence in MIT proteins and it was also found clade specific motif diversity. In addition, docking analyses indicated that Asp172 and Gly100 residues to be identified as the closest residues binding to ferrous iron. The percentage of structure overlap of the StMIT 3D protein model with Arabidopsis, maize and rice MIT proteins was found between 80.18% and 85.71%. The transcript analyses exhibited that the expression of StMIT was triggered under drought and salinity stresses. The findings of the present study would provide valuable leads for further studies targeting specifically the MIT gene and generally the plant iron metabolism

Idiopathic parkinson’s disease and fatigue

Introduction: Fatigue is a common non-motor symptom of Idiopathic Parkinson’s Disease (IPD). The aim is to research the relationship between fatigue of IPD patients and the clinical findings, of mood disorders.Material and methods: A total of 39 patients with IPD were included in the study. The relationship between fatigue severity and demographic characteristics and the treatment was evaluated in IPD. The severity of fatigue was evaluated by Fatigue Severity Scale (FSS). Motor impairment was scored by the modified Hoehn and Yahr scale. The patients were assessed for the presence of depression and anxiety with the Hospital Anxiety and Depression Scale (HADS). Results: The mean age of the patients was 70.62 ± 8.35 years. 23 were men and 16 were women. The mean disease duration was 6.18 ± 3.35 years. The patients were assigned into two groups according to the presence of fatigue measured by FSS with less than 5 (Group I) and 5 or more (Group II). There were no statistically significant differences between the two groups with respect to mean age, mean age of onset, and mean disease duration of the patients (p > 0.05). There were no significant differences between the two groups for HADS depression, anxiety values, and terms of antiparkinsonian therapies (p > 0.05). The severity of fatigue was correlated with the HADS anxiety levels (p < 0.05).Discussion: Fatigue is an important non-motor symptom that is underestimated in clinical follow-up. We didn’t find any correlation between fatigue and age, duration of disease onset, or drug use. There was no significant correlation between the fatigue score and depression, and pain. However, the fatigue scores were higher in patients with high anxiety scores and females

Evaluation of Alpha-Thalassemia Mutations in Cases with Hypochromic Microcytic Anemia: The İstanbul Perspective

INTRODUCTION: Alpha thalassemia syndromes are caused by mutations on one or more of the four α-globin genes. Mutations could be either more commonly deletional or non-deletional. As some deletions (3.7 and 4.2) cause α+-thalassemia, some cause (-20.5, MED, THAI, FIL) α0 -thalassemia. The aim of this study was to determine alpha thalassemia mutations in patients with unsolved hypochromic microcytic anemia and to evaluate types of mutations. METHODS: Two hundred six patients with hypochromic microcytic anemia were evaluated for alpha thalassemia. A venous blood sample of 2 mL was drawn from each patient for DNA isolation. The samples were investigated for α-thalassemia mutations by using the Vienna Lab α-Globlin StripAssay TM commercial kit. RESULTS: Fourteen different mutations were determined in 95 (46.1%) patients. The most common mutation was the 3.7 single gene deletion and was found in 37 patients (n=37/95, 39%). Others common mutations were the 20.5 kb double gene deletion (n=20 patients, 21%), MED double gene deletion (n=17 patients, 17.9%), α2 IVS1 (n=10 patients, 10.5%), α2 cd142 Hb Koya Dora (n=6 patients, 6.3%), α2 polyA1 (Saudi type) (n=6 patients, 6.3%), 4.2 single gene deletion (n=4 patients, 4.2%), α1 cd14 (n=2 patients, 2.1%), and -FIL mutation (n=2 patients 2.1%), respectively. Hb Adana, Hb Icaria, α2 init cd and α2 polyA2 (Turkish type) were found in 1% of the patients (n=1). Seven patients (7.4%) had α-thalassemia triplication. In our study, three mutations (Hb Icaria, α1 cd14, α2 init.cd) were determined firstly in Turkey. Seven mutations (-SEA, -THAI, Hb Constant Spring, α2 cd19, α2 cd59, α2 cd125, Hb Paksé) were not determined in this study. DISCUSSION AND CONCLUSION: Alpha thalassemia should be considered in the differential diagnosis of hypochromic microcytic anemia especially in cases without iron deficiency and β-thalassemia carrier state. Genetic testing should be performed for the suspicious cases. We also recommend that a national database with all mutations in Turkey should be created to screen the alpha thalassemia cost-effectively

Lorlatinib in ALK- or ROS1-positive non-small cell lung cancer patients: Experience from an early access program in Turkey

Background: Lorlatinib, a third generation ALK and ROS1 inhibitor, is indicated for the treatment of patients with ALK+ metastatic NSCLC whose disease has progressed on crizotinib and at least one second-generation ALK inhibitor. The aim of this study is to evaluate the efficacy and safety of lorlatinib in an Expanded Access Program (EAP) in Turkey. Method: The EAP was open-label, multicenter, and single-arm. Patients were eligible to receive lorlatinib (100 mg po/day) if they had advanced stage ALK-or ROS1-positive NSCLC and had progressed on crizotinib and/or second generation ALK inhibitors such as ceritinib or alectinib. The primary endpoint was PFS with lorlatinib. Secondary endpoints were objective response rate, overall survival, and safety

Glass: Global lorlatinib for ALK(+) and ROS1(+) retrospective study: Real world data of 123 NSCLC patients

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Glass: Global lorlatinib for ALK(+) and ROS1(+) retrospective study: Real world data of 123 NSCLC patients

Lorlatinib is a third-generation tyrosine-kinases inhibitor (TKI) targeting ALK/ROS1 fusions. The FDA has approved lorlatinib for TKI-pretreated ALK(+) NSCLC, while its approval for ROS1( + ) is still pending. Here we present the largest real-world data of NSCLC patients harboring ALK/ROS1 rearrangements treated with lorlatinib.Methods: 123 patients were enrolled retrospectively (data cut-off 1/1/2019). Lorlatinib was administered through an early access program for patients with no other available therapy. Outcome and response were defined by each investigator upon RECIST 1.1 criteria.Results: 106 ALK(+) and 17 ROS1(+) patients recruited from 8 different countries. The ALK( + ) cohort included 50 % males, 73 % never-smokers and 68 % with brain metastases. Extracranial (EC) and intracranial (IC) response rates (RR) were 60 % and 62 %, with disease control rates (DCR) of 91 % and 88 % respectively. Mean duration of therapy (DoT) was 23.9 +/- 1.6 months and median overall survival (mOS) was 89.1 +/- 19.6 months. ROS1 cohort enrolled 53 % males, 65 % never-smokers and 65 % had brain metastases. EC and IC RR were 62 % and 67 % with DCR of 92 % and 78 % respectively. Median DoT was 18.1 +/- 2.5 months and mOS of 90.3 +/- 24.4 months. OS and DoT in both cohorts were not significantly correlated with line of therapy nor other parameters.The most common adverse events of any grade were peripheral edema (48 %), hyperlipidemia (47 %), weight gain (25 %) and fatigue (30 %). CNS adverse events such as cognitive effect of grade 1-2 were reported in 18 % of patients.Conclusion: Lorlatinib shows outstanding EC/IC efficacy in ALK/ROS1(+) NSCLC. The observed mOS of 89 +/- 19 months in ALK(+) NSCLC supports previous reports, while mOS from of 90 +/- 24 months is unprecedented for ROS1( + ) NSCLC.Pfize