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Introduction: Advanced diagnostic methods give a huge advantage for identification of the abnormalities in myeloid malignancies. Researchers tried to show the potential importance of genetic tests both before the onset of the disease and during the remission. Large testing panels prevents false negative results in myeloid malignancies. But the important question is how can be merged with conventional cytogenetic and molecular cytogenetic techniques together with NGS technologies. Methods: In this paper, we draw an algorithm for evaluation of the malignancies. In order to evaluation of genetic abnormities we performed cytogenetics, molecular cytogenetics and NGS testing panels in hematologic malignancies. In this study, we analyzed 132 patients which are referred to Medical Genetics Laboratory within different type of hematologic malignancies. We highlighted possible algorithm for cytogenetically normal cases.Results: We analyzed cytogenetically normal patients by using NGS 141 gene panel and we detected two or more pathogenic variations in 20 out of 132 patients.Conclusions: Despite of long turnaround time conventional techniques is still golden standard for myeloid malignancies but sometimes cryptic gene fusions or complex abnormalities cannot easily be identified by conventional techniques that conditions advanced technologies are recommended.

Molecular mechanisms governing the development of the mammalian cochlea, the hearing organ, remain largely unknown. Through genome sequencing in 3 subjects from 2 families with nonsyndromic cochlear aplasia, we identified homozygous 221-kb and 338-kb deletions in a noncoding region on chromosome 8 with an approximately 200-kb overlapping section. Genomic location of the overlapping deleted region started from approximately 350 kb downstream of GDF6, which codes for growth and differentiation factor 6. Otic lineage cells differentiated from induced pluripotent stem cells derived from an affected individual showed reduced expression of GDF6 compared with control cells. Knockout of Gdf6 in a mouse model resulted in cochlear aplasia, closely resembling the human phenotype. We conclude that GDF6 plays a necessary role in early cochlear development controlled by cis-regulatory elements located within an approximately 500-kb region of the genome in humans and that its disruption leads to deafness due to cochlear aplasia.

Introduction Aneuploids, copy number variations (CNVs), and single nucleotide variants in specific genes are the main genetic causes of developmental delay (DD) and intellectual disability disorder (IDD). These genetic changes can be detected using chromosome analysis, chromosomal microarray (CMA), and next-generation DNA sequencing techniques. Therefore; In this study, we aimed to investigate the importance of CMA in determining the genomic etiology of unexplained DD and IDD in 123 patients. Method For 123 patients, chromosome analysis, DNA fragment analysis and microarray were performed. Conventional G-band karyotype analysis from peripheral blood was performed as part of the initial screening tests. FMR1 gene CGG repeat number and methylation analysis were carried out to exclude fragile X syndrome. Results CMA analysis was performed in 123 unexplained IDD/DD patients with normal karyotypes and fragile X screening, which were evaluated by conventional cytogenetics. Forty-four CNVs were detected in 39 (39/123=31.7%) patients. Twelve CNV variant of unknown significance (VUS) (9.75%) patients and 7 CNV benign (5.69%) patients were reported. In 6 patients, one or more pathogenic CNVs were determined. Therefore, the diagnostic efficiency of CMA was found to be 31.7% (39/123). Conclusion Today, genetic analysis is still not part of the routine in the evaluation of IDD patients who present to psychiatry clinics. A genetic diagnosis from CMA can eliminate genetic question marks and thus alter the clinical management of patients. Approximately one-third of the positive CMA findings are clinically intervenable. However, the emergence of CNVs as important risk factors for multiple disorders increases the need for individuals with comorbid neurodevelopmental conditions to be the priority where the CMA test is recommended.

Bu çalışmada; Artan dozlarda, farklı bor kaynakları kullanılarak, yapraktan uygulanan borun uygulanan bölgeden taşınımı belirlenmeye çalışılmıştır. Stanley çeşidi erikte, gelişimini yeni tamamlamış yapraklara artan dozda borik asit (H3BO3) ve Etidot-67 (Na2B8O13.4H2O) uygulanmış ve aynı sürgünde oluşan genç yapraklardaki, dallardaki ve bir sene önceki sürgünlerde bulunan yaprak ve dallardaki bor içerikleri belirlenmiştir. Çalışmada borik asit ve Etidot-67'nin 0, 500, 1000 mg B kg-1 içeren dozları kullanılmıştır. Araştırmada gelişimleri homojen, Prunus domestica cv. Stanley tipi erik ağaçlarından oluşan bahçeden 18 ağaç belirlenmiştir. Her bir ağaçtan beş yeni sürgün seçilerek sürgün üzerinde o sene gelişimini yeni tamamlamış yapraklara uygulama yapılmıştır. Bor uygulamaları 7 gün arayla 3 defa tekrarlanmıştır. Son uygulamadan 15 gün sonra deneme sonlandırılırmıştır. Deneme sonunda her ağaçtan uygulama yapılan sürgünlerden uygulama bölgesi bir önceki sene süren ve uygulama bölgesinden sonra gelişim gösteren sürgünlerden dal ve yaprak örnekleri alınmıştır. Yapılan uygulamalar; seçilen dallar üzerinde uygulama yapılan bölgenin bor içeriğine etki ettiği gibi uygulama yapılmayan genç yaprak ve dallarında bor içeriklerini arttırmıştır. Ancak uygulama yerinden önceki yaşlı yaprak ve dalların bor içeriklerinde istatistiksel olarak önemli görülen bir değişim gözlenmemiştir. In this study; In increasing doses, using different boron sources, the transport of boron from the foliar application was tried to be determined. Stanley variety in plum, increasing dose of boric acid and Etidot-67 applied to newly completed leaves and determined boron content of young leaves formed in the same shoot, branches and leaves and branches found in the shoots of the previous year. In the study, 0, 500, 1000 mg B kg-1 doses of boric acid and Etidot-67 were used. In this research, homogeneous growth 18 trees were selected from the Stanley type plum orchard. Five new shoots were selected from each tree and application made on leaves on the shoots that were newly completed. Boron applications were repeated 3 times with an interval of 7 days. The trial was terminated 15 days after the last application. At the end of the experiment, the branches and leaves were taken from the shoots, which were applied from each tree, from the shoots, the application area of which lasted last year and developed after the application area. Applications made; As it affects the boron content of the application area on the selected branches, it also increased the boron contents in the young leaves and branches that are not treated. However, no statistically significant change was observed in the boron contents of aged leaves and branches which comes before the application spot.

Patient: Female, 64 Final Diagnosis: Bilateral femoral neuropathy Symptoms: Inability to walk Medication: — Clinical Procedure: None Specialty: Critical Care Medicine Objective: Adverse events of drug therapy Background: Femoral neuropathy as a result of retroperitoneal hemorrhage most commonly occurs following pelvic and lower extremity trauma, but has been described to develop as a less frequent complication of anticoagulation. Case Report: We present the case of a 64-year-old white woman who was being treated for pulmonary embolism and deep venous thrombosis with enoxaparin. In the course of her treatment, she was noted to be hypotensive, with a sudden drop in hematocrit. She had been previously ambulatory, but noted an inability to move her bilateral lower extremities. A diagnosis of bilateral femoral neuropathy as a result of psoas hematomas caused by enoxaparin was made. Anticoagulation was discontinued and she was treated conservatively, with an excellent outcome. At the time of discharge to a rehabilitation center, she had regained most of the motor strength in her lower extremities. Conclusions: We believe this is the first reported case of bilateral femoral nerve neuropathy following use of enoxaparin. A full neurological examination should always be performed when there is sudden loss of function. The constellation of bilateral groin pain, loss of lower extremity mobility, and decreased hematocrit raised the suspicion of massive blood loss into the cavity/compartment. Thus, a high index of suspicion should be maintained by clinicians when presented with such symptoms and signs, as there can be significant morbidity and mortality when prompt diagnosis is not made.

Background: In light of rising healthcare costs and evidence of inefficient use of medical resources, there is growing interest in reducing healthcare waste by clinicians. Unwarranted lab tests may lead to further tests, prolonged hospital stays, unnecessary referrals and procedures, patient discomfort, and iatrogenic anemia, resulting in significant economic and clinical effects. Blood tests are essential in guiding medical decisions, but they are also associated with significant financial and clinical costs. We designed a quality improvement study that attempted to decrease inappropriate ordering of laboratory tests while maintaining quality of care in a large residency program. Methods: An algorithm outlining indications for complete blood count (CBC), coagulation profile (PT/INR) and basic metabolic profile (BMP) was created by the study team. Data from 1,312 patients over a 3-month period in the pre-intervention phase and 1,255 patients during the selected intervention phase were analyzed. The primary endpoint was mortality rate and secondary endpoints were length of stay and laboratory costs. Results: There were significant decreases in the number of PT/INR orders (20.6%), followed by BMP orders (12.4%), and CBC orders (9.3%). The mortality rate was 5.3% for the pre-intervention phase and 5.8% for the selected intervention phase, with a difference of 0.5% (P = 0.44). Conclusion: Our approach leads to a decrease in costs, preventing unnecessary downstream testing, and improving patient experience. It also brought a mental discipline while ordering blood tests amongst residents. J Clin Med Res. 2017;9(12):965-969 doi: https://doi.org/10.14740/jocmr3210w

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 telangiectasia.

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 Curacao 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 HHT certain type of mutations correlates with disease phenotypes and with next generation sequencing method, new pathogenic variations can be revealed which might help managing HHT patients.

Bu araştırmanın amacı, ergenlerin kişilerarası problem çözme becerileri,empatik eğilimleri ve sahip oldukları değerler arasındaki yordayıcı ilişkiyiortaya koymak ve bu ilişkiden hareketle oluşturulan yapısal eşitlik modeli testetmektir. Araştırmanın çalışma grubunu, 2016-2017 eğitim-öğretim yılındaİstanbul il merkezinde çeşitli liselerde öğrenim görmekte olan 323 kız ve 251erkek olmak üzere toplam 574 öğrenci oluşturmuştur. Araştırmanın çalışma grubutesadüfi örnekleme yöntemi ile seçilmiştir. Araştırmada öğrencilerin problem çözme becerilerini ölçmek amacıyla“Kişilerarası Problem Çözme Envanteri”, empatik eğilimlerini belirlemek için“KA-S_ Çocuk ve Ergenler için Empatik Eğilim Ölçeği”, insani değerlerinibelirlemek amacıyla da “İnsani Değerler Ölçeği” ve “Kişisel Bilgi Formu”kullanılmıştır. Ölçüm araçlarının uygulanması sonucu elde edilen verilerinanalizi için “Yapısal Eşitlik Modeli” ne göre AMOS 16 Programı kullanılmıştır.Araştırmada elde edilen istatistiksel bulguların anlamlılığı .001 düzeyindesınanmıştır. Ergenlerin kişileraraesı problem çözme becerisi ile sahip olduklarıdeğerler arasında pozitif yönlü doğrusal bir ilişki olduğunu göstermektedir.Diğer bir ifadeyle ergenlerin sahip olduğu değerler artarsa kişilerarasıilişkilerde de artış olacaktır., The aim of the study is to present the predictorinterrelation problem solving skills of the teenagers and the emphatetictendency amongst the values they have and to test the model by means of thisrelation. The study group of the research consists of 574 students 323 of whomare girls and 251 of whom are boys attending different high-schools in centralİstanbul throughout 2016-2017 academic year. The study group of the researchhas been chosen by random sampling method. In the study, in order to measviethe students ability of problem solving “Interrations Problem Solving Invantery”, to identify theiremphatetic tendency “KA-S_ Emphatetic Tendency Scale For The Kids And Adults”,to identify their humanitarian values “The Humanitarian Values Scale” and“Personal Data Form” has been used. Toanalyze the data as a result of the application of the measurement toolsaccording to the “Structural Equality Model Amos 16 Programme has been used.The logic of the data abtained as a result of the statistical findings has beenstudied at the level of .001. According to the result of the study, therelationship between the interrelation problem solving skills and theemphatetic tendency of the teenagers has been found statistically meaningful.In terms of this, it can be said that the more the emphatetic tendency of theteenagers increases the more the interrelation problem solving skills increase.It has been found that there is a linear and positive relationship between theemphatetic tendency and values of the teenagers. In order words, if the valuesthe teenagers have increase, there will be an increase in the interrelation,aswell.

Advanced diagnostic methods give an advantage for the identification of the abnormalities in myeloid malignancies. Various researchers have shown the potential importance of genetic tests both before the onset of the disease and during the remission. Large testing panels prevents false negative results in myeloid malignancies. But the important question is how the results of conventional cytogenetic and molecular cytogenetic techniques can be merged together with NGS technologies. In this paper, we drew an algorithm for evaluation of the myeloid malignancies. In order to evaluate genetic abnormalities, we performed cytogenetics, molecular cytogenetics and NGS testing in hematologic malignancies. In this study, we analyzed 100 patients who admitted to Medical Genetics Laboratory within different type of myeloid malignancies. We highlighted the possible diagnostic algorithm for cytogenetically normal cases. We applied NGS 141 gene panel for cytogenetically normal patients and we detected two or more pathogenic variations in 61 out of 100 patients (61%). The pathogenic variation detection rate of NGS varies in disease groups: AML were 85% and MDS were 23%. Here, we identified 24 novel variation out of total pathogenic variations in myeloid malignancies. A total 18 novel variation were identified in AML and 6 novel variation were identified in MDS. Despite of long turnaround time, conventional techniques are still golden standard for myeloid malignancies but sometimes cryptic gene fusions or complex abnormalities cannot be identified easily by conventional techniques. In these conditions, advanced technologies like NGS are highly recommended.

Background. Obstructive sleep apnea (OSA) is a chronic respiratory disorder associated with repeated nocturnal partial or complete collapse that is often underdiagnosed and associated with multiple comorbidities. The association between specific features on an electrocardiogram and OSA has not been well studied. This retrospective study attempts to bridge this gap in knowledge.Methods. A total of 265 patients’ medical records were reviewed retrospectively. Specific features of their electrocardiograms and their association with the severity of OSA were studied from April 2014 to May 2016. 215 patients were included in the final analysis. Tests of group difference between OSA patients and controls were done using student’s t-tests for continuous variables and using chi-square tests for categorical outcomes. Multivariate tests of differences between OSA and control patients were done using logistic regression to control for possible confounding factors.Results. A total of 215 patients with diagnosed OSA and 41 controls in whom OSA was ruled out using polysomnography were compared. Males were more likely to present with OSA than females (93 % versus 76 %; p < 0.001). OSA patients were also significantly older: 52.18 ± 14.04 versus 44.55 ± 14.64; p = 0.002. Deep S waves in V5-6 (p=0.014) and RS pattern with Deep S waves in leads I and AVF (p=0.017) were both significantly associated with OSA based on univariate comparisons. These findings lost significance in the multivariate analysis.Conclusion. The idea of using an electrocardiogram in aiding in the assessment of OSA is attractive and feasible, as it is a safe, noninvasive, and cost-effective method. Our results can be used for early risk stratification in patients with OSA.

Amaç: Bu çalışma, toplumda yaşayan yaşlılarda ağrı prevalansı ve yaşlıların ağrı öz yönetim uygulamalarını değerlendirmek amacıyla yapılmıştır. Yöntem: Kesitsel nitelikte olan çalışmanın örneklemini, Ocak-Mart 2016 tarihleri arasında Aile Sağlığı Merkez'ine gelen, demansı olmayan 65 yaş ve üzeri 258 yaşlı birey oluşturmaktadır. Veriler; sosyo-demografik özellikler formu, Geriatrik Ağrı Ölçeği (GAÖ) ve Ağrı Öz Yönetim Uygulamaları Envanteri aracılığıyla yüz yüze görüşme yöntemiyle toplanmıştır. Bulgular: GAÖ'ye göre toplumda yaşayan yaşlılar orta düzeyde ağrı (44.7±25.6) yaşamaktadır. Yaşlıların %21.7'sinin ağrısı şiddetli, %50.4'ünün orta düzeydedir. Verilerin toplandığı gün yaşlıların ağrı algılaması hafif ağrı (2.5±2.6) düzeyinde belirlenmiştir. Yaşlılar en sık bacak %55, kalça/bel %50 ve diz ağrısı %46.9 tanımlamıştır. Evli, eşiyle yaşayan, Beden Kitle İndeksi (BKI) normal sınırlarda ve fiziksel olarak aktif olan yaşlılarda ağrı daha düşük düzeyde hissedilmektedir. Kadınlar, kronik hastalığı olanlar orta düzeyde ağrı yaşarken, inaktif olan yaşlılar şiddetli ağrı tanımlamaktadır. Romatoid artrit, osteoporoz, osteoartrit, hipertansiyon, kardiyak olaylar, diskal herni, diyabet ve hiperkolesterolemisi olan yaşlılar bu hastalıkları olmayanlara göre daha fazla ağrı algılamaktadır. Şiddetli ağrıyı, kanser 13.5, nörolojik hastalıklar 7.7, romatoid artrit 6.6 kat arttırmaktadır. İlaç dışı yöntemlerle ağrıyı hafifletmeye çalışan yaşlıların ağrısı hafif ağrı düzeyindedir (20.6±21.5). Ağrı kesici ilaçlarla birlikte ilaç dışı yöntemleri kullanan yaşlılar orta şiddette ağrı yaşamaktadır (51.0±22.8). Düzenli şekilde ağrı kesici kullanan yaşlıların ağrı düzeyi daha yüksektir. Yaşlıların en sık kullandıkları ilaç dışı öz yönetim uygulamaları ağrının geçmesi için dinlenme-aktivite kısıtlaması (%43.4), ağrıyan bölge üzerine herhangi bir şey sürme (%38.8), ağrıyan bölgeye masaj yapma (%33.7) ve sıcak uygulamadır (%32.6). Ağrı düzeyi yükseldikçe ağrıyan bölgeye sıcak uygulama yapılmasının yararı daha fazla hissedilmiştir. Sonuç: Toplumda yaşayan her beş yaşlıdan biri şiddetli ağrı yaşamaktadır. Şiddetli ağrıda belirleyici olan hastalıklarda yaşlılar ağrı yönetimi konusunda desteklenmelidir.

Background Severely anemic patients for whom blood transfusion is not an option provide highly valuable information on risks of anemia and alternative management strategies. Study Design and Methods This is a retrospective study of consecutive patients at least 18 years old who could not be transfused, had surgery at a patient blood management center between 2003 and 2012, and had at least one hemoglobin (Hb) measurement of not more than 8 g/dL during the postoperative period. The primary outcome measure was mortality, occurring anytime in the period after the surgery until discharge or 30th day after the surgery, whichever was sooner. Postoperative morbidities included the occurrence of any of sepsis, pneumonia, myocardial infarction, deep wound infection, congestive heart failure, and arrhythmia. Results A total of 293 patients (including 288 who self-identified as “Jehovah's Witness”) were eligible and enrolled. The mean ± SD age of the patients was 61.5 ± 16.9 years and 74.1% were female. Overall mortality rate was 8.2% (95% confidence interval [CI], 5%-11.3%). Unadjusted odds ratio (OR) of death per each 1 g/dL decrease in the nadir postoperative Hb was 2.04 (95% CI, 1.52-2.74); OR of death after adjustment for other significant factors (urgency, American Society of Anesthesiology score, and age) was 1.82 (95% CI, 1.27-2.59). Conclusion Our study confirms the previously reported low risk of mortality in upper nadir Hb ranges of 7 to 8 g/dL and much higher risk in lower ranges, albeit the number of patients reaching extremely low Hb levels were lower than previous report, possibly suggestive of improved management strategy of these patients.

Elmaogullari S, Yildiz AE, Demir S, Gurkan H, Ucakturk SA. A novel LEMD3 pathogenic variant in a son and mother with osteopoikilosis. Turk J Pediatr 2019; 61: 594-598. Osteopoikilosis (OPK) is a rare, benign condition characterized by osteosclerotic foci that occur in the epiphyses and metaphyses of long bones, wrists, feet, ankles, pelvis, and scapulae. We report a 16-year-old boy and his mother incidentally found to have sclerotic lesions on X-ray. Both of them were asymptomatic and the bone scan of the boy ruled out osteoblastic metastases. We have shown that the boy and his mother have a previously unknown pathogenic variant of the LEMD3 gene, supporting the diagnosis of osteopoikilosis.

Giriş: İnsülin ve kolon, akciğer ve endometrium kanserleri gibi bazı kanser türleri arasında pozitif bir korelasyon olduğu bilinmektedir. Prostat kanseri de bunlardan birisidir. Bu çalışmadaki amacımız insülin geni 3" UTR bölgesinde lokalize olan INS+1127 PstI polimosfizminin prostat kanseri etiyolojinde rolünü araştırmaktır. Materyal ve Metot: Çalışmaya 71 prostat kanseri tanısı almış hasta ve 119 normal kontrol bireyi dahil edilmiştir. INS+1127 PstI polimorfizm araştırması için PCR ve RFLP tekniği kullanılmıştır. Bulgular: Çalışmanın sonucunda INS geni PstI polimorfizmi genotipleri prostat kanserli hastalarda (n:71) %67,6 CC, %28,2 CT, %4,2 TT; kontrol grubunda (n: 119) %78,2 CC, %21 CT, %0,8 TT olarak belirlenmiştir. Sonuç: Hasta ve kontroller arasındaki genotip dağılımında istatistiksel olarak anlamlı bir farklılık bulunamamıştır (P=0,078).

Prostate cancer is the most common cause of cancer deaths in men and is a major health problem worldwide. Methylene tetrahydrofolate reductase (MTHFR) plays an important role for folate metabolism and is also an important source for DNA methylation and DNA synthesis (nucleotide synthesis). The objective of this study was to investigate the relationship between the A1298C and C677T polymorphisms of the MTHFR gene and prostate cancer in the Turkish population. In our study, 93 prostate cancer patients between the ages of 50-89 and a control group of 166 benign prostate hyperplasia patients were evaluated. C677T and A1298C polymorphism ratios were compared among these two groups, and an analysis was made to see if there is a statistically meaningful difference. In this study, it has been observed that C677T polymorphism of the MTHFR gene produces no statistically significant difference for T allele frequency and the genotype frequency in prostate cancer patients and male controls with benign prostate hyperplasia not having prostate cancer, whereas it has been observed that A1298C polymorphism produces a statistically significant difference for C allele frequency in prostate cancer patients and controls and that it also produces a statistically marginal significance for genotype frequencies.

Ekici, Arif B/0000-0001-6099-7066 WOS: 000231197400012 PubMed: 16053933 The majority of women living in rural areas in Turkey use biomass fuels for domestic energy and are exposed to high levels of indoor air pollution every day. The objective of this study was to compare the presence of chronic airway diseases (CAD) in two groups of nonsmoking women older than 40 years with (exposed group, n = 397) and without a history of exposure to biomass cooking (liquid petroleum gas (LPG); control group, n = 199), in 2002 in Kirikkale, Turkey. Detailed respiratory symptoms were collected with a standard questionnaire adapted from that of the British Medical Research Council. Exposure was calculated as the average hours spent daily for cooking multiplied by the number of years. CAD were defined as either chronic airway obstruction (CAO; (forced expiratory volume in 1 s/forced vital capacity) < 0.70), chronic bronchitis, or chronic bronchitis with CAO. The prevalence of CAD in the exposed group was found to be higher than that in the LPG group (28.5% vs. 13.6%, crude odds ratios (ORs) 2.5 (1.5-4.0), P = 0.0001). The fraction of CAD attributed to exposure to biomass smoke after adjusting for possible confounding factors was 23.1% (95% confidence interval (CI) 13.4-33.2). Acute symptoms during exposure to biomass smoke were important predictors for the presence of CAD. Biomass smoke pollution is an important contributing factor in the development of CAD in nonsmoking women living in a rural area. The presence of acute symptoms during cooking in women in rural areas should signal to general practitioners the possibility of CAD. (c) 2005 Elsevier Inc. All rights reserved.

Objectives: Perioperative treatment with angiotensin-converting enzyme (ACE) inhibitors in cardiac surgery with cardiopulmonary bypass is still controversial. Using ACE inhibitors during cardiac surgery might be associated with an increased risk of critical hypotensive episodes. On the other hand, ACE inhibitors could have beneficial effects with respect to the development of the systemic inflammatory response syndrome. Design: The effect of acute administration of quinaprilat on hemodynamic variables and plasma cytokines was assessed under double-blind, randomized, and placebo-controlled conditions. Setting: Department of anesthesiology and cardiovascular surgery clinic in a university hospital. Participants: Forty patients without preexisting cardiac failure, undergoing coronary artery bypass grafting. Interventions: Patients received 0.08 mg/kg of intravenous quinaprilat or intravenous isotonic saline solution after induction of anesthesia. Measurements and results: Blood samples were taken after induction of anesthesia (T0), before cardiopulmonary bypass (T1), at the end of surgery (T2), and 4 hours after the end of surgery (T3). There was no difference between the 2 groups regarding mean arterial pressure and inotropic or vasopressor support. Systemic vascular resistance index was significantly lower in the quinaprilat group at T2 (p = 0.016) and T3 (p = 0.017). No difference in proinflammatory cytokine levels was observed between the 2 groups. Conclusions: The present investigation shows that acute administration of an intravenous ACE inhibitor, quinaprilat, has no influence on proinflammatory cytokines during cardiac surgery with cardiopulmonary bypass. The patients treated with quinaprilat showed an improved systemic vascular resistance index with no increased risk of deleterious hemodynamic episodes.

Severely anemic patients for whom blood transfusion is not an option provide highly valuable information on risks of anemia and alternative management strategies.This is a retrospective study of consecutive patients at least 18 years old who could not be transfused, had surgery at a patient blood management center between 2003 and 2012, and had at least one hemoglobin (Hb) measurement of not more than 8 g/dL during the postoperative period. The primary outcome measure was mortality, occurring anytime in the period after the surgery until discharge or 30th day after the surgery, whichever was sooner. Postoperative morbidities included the occurrence of any of sepsis, pneumonia, myocardial infarction, deep wound infection, congestive heart failure, and arrhythmia.A total of 293 patients (including 288 who self-identified as "Jehovah's Witness") were eligible and enrolled. The mean ± SD age of the patients was 61.5 ± 16.9 years and 74.1% were female. Overall mortality rate was 8.2% (95% confidence interval [CI], 5%-11.3%). Unadjusted odds ratio (OR) of death per each 1 g/dL decrease in the nadir postoperative Hb was 2.04 (95% CI, 1.52-2.74); OR of death after adjustment for other significant factors (urgency, American Society of Anesthesiology score, and age) was 1.82 (95% CI, 1.27-2.59).Our study confirms the previously reported low risk of mortality in upper nadir Hb ranges of 7 to 8 g/dL and much higher risk in lower ranges, albeit the number of patients reaching extremely low Hb levels were lower than previous report, possibly suggestive of improved management strategy of these patients.

Purpose: There is positive correlation between insulin and various cancers such as colon, lung and endometrium. Protate cancer is the one of them. The aim of this study, to determine the incidance of INS+1127 PstI polymorphism, located in the 3' UTR of insulin gene, between prostate cancer cases and controls and to clarify if this polymorphism have any role in the etiology of prostate cancer., Methods: We investigated 71 prostate cancer cases and 119 normal controls unrelated to patients. INS+1127 PstI polymorphism was investigated with PCR and RFLP method., Results: At the end of study; INS+1127 PstI polymorphism genotypes out to be 67.6 % CC, 28.2 % CT, 4.2 % TT among prostatic cancer individuals and 78.2% CC, 21% CT, 0.8% TT among control group individuals., Conclusion: As a result, there was no significant difference between patients and control group, in the genotype distribution.

Introduction: Branchio-oto-renal (BOR) syndrome is an autosomal dominant genetic disorder characterized by second branchial arch anomalies, hearing impairment, and renal malformations. Pathogenic mutations have been discovered in several genes such as EYA1, SIX5, and SIXI. However, nearly half of those affected reveal no pathogenic variant by traditional genetic testing. Methods and materials: Whole Exome sequencing and/or Sanger sequencing performed in 10 unrelated families from Turkey, Iran, Ecuador, and USA with BOR syndrome in this study. Results: We identified causative DNA variants in six families including novel c.525delT, c.979T > C, and c.1768deIG and a previously reported c.1779A > T variants in EYA1. Two large heterozygous deletions involving EYA1 were detected in additional two families. Whole exome sequencing did not reveal a causative variant in the remaining four families. Conclusions: A variety of DNA changes including large deletions underlie BOR syndrome in different populations, which can be detected with comprehensive genetic testing. (C) 2017 Elsevier B.V. All rights reserved.