Doğu Karadeniz Bölgesi’nden strumigenys smith, 1860 (hymenoptera, formicidae) cinsi için yeni kayıtlar

Strumigenys is one of the most speciose genera in the world. Although the genus is speciose, still they are recorded occasionally because of their small size, cryptic lifestyle and slow movements of its members which also stand still when disturbed. We report here two species of the genus, S. argiola and S. baudueri, from Eastern Black Sea Region of Turkey, which, until now, were only recorded from İstanbul in the first half of the 20th century. Diagnostic characteristics, details of the localities, photographs of both species, and an identification key for Turkish Strumigenys species are given.Tüm Dünya’da en fazla tür içeren cinslerden biri olan Strumigenys cinsi çok tür ile temsil ediliyor olmasına rağmen, çok küçük vücutlu, yavaş hareketli olmaları, kriptik yaşam tarzları ve rahatsız edildiklerinde hareketsiz kalmaları nedeni ile çok nadiren kayıt edilirler. Bu çalışmada 20. yüzyılın ilk yarısında İstanbul’dan kayıt edilmiş, cinse ait iki tür, S. argiola ve S. baudueri, Türkiye’nin Doğu Karadeniz Bölgesi’nden kayıt edilmiştir. Saptanan iki türe ait diagnostik karakterler, detaylı lokalite bilgileri ve fotoğraflar ile Türkiye’den bilinen Strumigenys türlerine ait tür tayin anahtarı verilmişti

AN EVALUATION ON TS-10465 AND TS EN 12504/1 FOR THE DETERMINATION OF COMPRESSIVE STRENGTH OF HARDENED CONCRETE

İmalatı tamamlanmış betonarme yapılara ait yapı elemanlarının basınç dayanımlarının tayin edilmesi için, tahribatlı bir deney yöntemi olan karot numunesi alınması ve tahribatsız bir deney yöntemi olan yüzey sertliği metodu, yaygın olarak ayrı ayrı veya birlikte kullanılmaktadır. Ülkemizde, sertleşmiş betondan karot alınması ve test edilmesi ile ilgili temel hususlar, TS 10465 ve TS EN 12504/1 standartları ile belirlenmiştir. Halen yürürlükte olan bu standartlarda belirtilen numune alma yöntemi ve hesap esasları ile ilgili önemli tereddütler mevcuttur. Bu çalışmada, ilgili standartlar irdelenerek, bu standardın eksiklikleri ve çelişkileri ortaya konulmuş ve çözüm önerileri sunulmaya çalışılmıştır. Yapı stoğunun çoğunu betonarme yapıların oluşturduğu ve mevcut yapıların yapısal dayanımları ile ilgili ciddi şüphelerin var olduğu ülkemizde, bu standartça önerilen yöntemler ile yapılan analizler çok büyük önem taşımaktadır. Dolayısıyla bu standart ile ilgili oluşan tereddütlerin ortadan kaldırılması, bu konu ile ilgili çalışan mühendislerimizin daha doğru değerlendirme yapabilmesini sağlayacaktır. In order to determine the compressive strength in structures components of finished reinforced concrete systems, the destructive method of obtaining core samples and the non-destructive method of surface hardness method are widely used separately or together. In Turkey, basic principles about obtaining samples in hardened concrete in structures and the tests applied are based on TS 10465 and TS EN 12504-1 standards. However, there seems to be serious conflicts in these standards about the method for obtaining samples and their calculation principles. In this study, considering these standards, existing drawbacks and uncertainties were emphasized and related solution proposals were presented. Accounting the percentage of reinforced concrete structures in our country, these standards become more crucial; thus, it is essential to remove these serious doubts about considered strength analyzing methods for helping our engineers to evaluate in a better way

Genetic Diagnosis of Hereditary Hemorrhagic Telangiectasia: Four Novel Pathogenic Variations in Turkish Patients

Aims: Hereditary hemorrhagic telangiectasia is an autosomal dominant disorder characterized by telangiectasia, epistaxis, and vascular malformations. Pathogenic mutations were found in ENG, AVCRL1, SMAD4, and GDF genes. In this study, we present our database of patients with hereditary hemorrhagic telangiectasia regarding the phenotype-genotype relations and discuss two novel ENG gene pathogenic variations in two unrelated families. Methods: Next Generation Sequencing analysis was performed on the peripheral blood of nine patients with hereditary hemorrhagic telangiectasia in four unrelated families. All patients were diagnosed with hereditary hemorrhagic telangiectasia according to the Curaçao criteria. Data on treatment and screenings of visceral involvement were recorded from files. Results: We have found a pathogenic variation in either the ENG or ACVRL1 gene in each family. Two novel pathogenic variations in the ENG gene, including NM_000118.3 (ENG): c.416delC (p.P139fs*24) and NM_000118.3(ENG): c.1139dupT (p.Leu380PhefsTer16), were found in the same family. The NM_000020.2(ACVRL1): c.1298C>T (p.Pro433Leu) pathogenic variation in the ACVRL1 gene in our first family and a novel heterozygous likely pathogenic NM_000020.2(ACVRL1): c.95T>C (p.Val32Ala) variation was found in our second family. Seven of the nine patients were treated with thalidomide for controlling bleeding episodes. All patients responded to thalidomide. In one patient, the response to thalidomide was lost and switched to bevacizumab. Conclusion: In hereditary hemorrhagic telangiectasia, certain types of mutations correlate with disease phenotypes and with next generation sequencing methods. New pathogenic variations can be revealed, which might help manage patients with hereditary hemorrhagic telangiectasi

CD11b Expression in Acute Myeloid Leukemia is Associated With Hemostatic Complications and Response to Treatment

Aim:In our study, we aimed to investigate the effects of CD11b expression on myeloblasts on clinical course and prognosis in patients with AML.Materials and Methods:Data of 123 patients diagnosed with AML between 2014-2017 in Trakya University Faculty of Medicine, Department of Hematology, a tertiary referral hospital in the Trakya Region, were evaluated in a retrospective manner. The diagnosis of AML was based on WHO 2016 criteria of Myeloid Neoplasms.Results:Of the 123 patients in our study, 60 were female, and 63 were male. The mean age was 57.93 years. CD11b positivity was observed in 40 patients. Platelet counts were significantly lower in patients with CD11b positivity (p = 0.004). Likewise, D-dimer levels at presentation were higher in the CD11b positive patient group (p = 0.000). Regarding outcomes, patients with CD11b positivity were found to have lower rates of remission with first-line remission induction therapy (p = 0.003). There was no significant relationship between CD11b positivity and overall survival with Kaplan Meier survival analysis (8.5 months in CD 11b positive group, 12.1 months in negative group, p: 0.436).Conclusion:Our study demonstrated that patients with CD11b expression had lower remission rates with remission induction chemotherapy

Could ratio of hemoglobin to red cell distribution width and ratio of absolute lymphocyte count to absolute monocyte count be a prognostic tool in newly diagnosed multiple myeloma patients?

IntroductionHemoglobin/red cell distribution width (RDW) ratio (HRR) and lymphocyte-to-monocyte ratio (LMR) are two novel bio-markers associated with overall survival (OS) and prognosis in several types of cancers. The aim of this study is to investigate the value of HRR and LMR in newly diagnosed multiple myeloma (MM) patients. MethodsA total of 180 patients were included in this study. Patients diagnosed with MM between May 2013 and May 2019 at a single center were evaluated. HRR was calculated by dividing hemoglobin to RDW, both measured from the same sample. LMR was calculated by dividing absolute lymphocyte count (ALC) to absolute monocyte count (AMC). ResultsThe cutoff value for HRR was taken as 0.61, and the cutoff value for LMR was taken as 3.28. Patients were divided into low HRR, high HRR, low LMR, and high LMR groups. OS of the patients with low HRR was found lower compared with high HRR (36.7 months for low HRR and 53.2 months for high HRR, < 0.001). Also, OS was found lower in the low LMR group (39.4 months for low LMR and 51.7 months for high LMR, = 0.016). On multivariate analysis, low HRR and low LMR were predictive factors of OS (hazard ratio (HR) 2.08, 95% confidence intervals (CI) 1.31–3.03, and = 0.002 for low HRR; HR 1.47, 95% CI 0.92–2.29, and = 0.010 for low LMR). ConclusionCombining both HRR and LMR could be a prognostic biomarker and it reflects the status of the immune system in newly diagnosed MM patients

Effects of preoperative endoscopic pneumatic balloon dilatation on postoperative achalasia symptoms after Heller esophageal myotomy plus Dor fundoplication.

Conclusion: HM+DF is an effective procedure in relieving achalasia symptoms as a first-line therapy as well as in individuals unresponsive to repeated endoscopic PBDs

Molecular Test Results of Syndromic Craniosynostosis Patients:genotype-phenotype correlations

Synostosis is the premature fusion of cranial sutures in the brain vaultproducing continued growth at the position of the open cranium suturein parallel to brain growth resulting in morphological deformation calledCraniosynostosis. It is observed in 1/2100-1/2500 live births, occurring inboth syndromic and non-syndromic forms and addressed in approximately180 different syndromes. Recent studies have shown that notably in 20% ofcases are caused by single gene mutations or chromosome abnormalities.FGFR2, FGFR3, TWIST1 and EFNB1 are listed to be the most common causativegenes in craniosynostosis, though rarely involved many others likeFGFR1, MSX2 are already known and growing number of novel genes are intenselybeing identiied. Mutations in FGFR2, FGFR3, TWIST1 are involved insyndromic and lesser extent in non syndromic forms while EFNB1 are solelyrecognized to be associated with Craniofrontonasal Syndrome (CFNS).Thirty craniosynostosis patients, except CFNS, where chromosomal abnormalitieswere previously excluded, are recruited to our research study withtheir families. Our worklow will be targeted mutation screening for commongenes, FGFR2 and FGFR3, mutation negative patients will be subjectto deletion/duplication analysis by craniofrontonasal MLPA kit, which willfollow by MSX2 sequencing and targeted mutation screening for FGFR1.Our investigation is ongoing presently. We anticipate that our results willfoster the acknowledged molecular diagnostic low charts in craniosynostosisand further delineate genotype-phenotype relationship. Undeined caseswill be esteemed subjects for novel gene identiication by next generationsequencing

MOLECULAR ANALYSIS OF FGFR1-3, TWIST1, MSX2, POR, FREM1 AND RAB23 GENES IN SYNDROMIC AND NON-SYNDROMIC CRANIOSYNOSTOSIS CASES

Objective: Craniosynostosis (CS) associated genes (FGFR1-3, TWIST1, MSX2, POR, FREM1 and RAB23) were investigated in order to determine the mutation rates and establish an effective flow chart for molecular genetic diagnosis for syndromic (SCS) and non-syndromic craniosynostosis (NSCS)

Molecular Diagnostic Algorithm of Syndromic Craniosynostosis

Craniosynostosis(CS) is a birth defect, with a prevalence of 1/2100-1/2500,caused by the premature fusion of one or more cranial sutures leading tospeciic cranial base and vault abnormalities. It is a highly heterogeneousgroup of disorders occurring both in syndromic and non-syndromic forms,associated with approximately 180 different syndromes. The identiicationof the responsible gene largely depends on the fact if it is syndromicor non-syndromic. Although 85% of the cases are reported to be non-syndromicwith unknown etiology, syndromic forms arise from chromosomalanormalies or single gene defects of Mendelian inheritance, both togethercomprising the etiopathogenesis only in 40% of the cases and single genedefects contributing to three/fourth. Noteworthy genes in this group areFGFR1, FGFR2, FGFR3, TWIST1, EFNB1, MSX2, RAB23 and FREM1. EFNB1can be excluded from this group due to its association with CraniofrontonasalSyndrome. Thirty syndromic CS patients with normal karyotype wereincluded in the study cohort. Stepwise screening algorithm was applied, initialstep being the sequencing of FGFR2, FGFR3 and FGFR1, followed by fullgene sequencing of FGFR2 and FGFR3. Samples with unidentiied etiologywere further screened for deletion/duplication by craniofrontonasal MLPAkit (P080). The last step consisted of sequencing of FGFR1, MSX2, TWIST1,RAB23 and FREM1 genes, when the cases showed distinct related clinicalphenotype.We highly suggest that our ongoing research will lead to better insight forthe clinical diagnosis, molecular diagnostic low charts in CS and will contributeto the genotype-phenotype correlation