Our experiences on retrograde intrarenal surgery

Objective: To evaluate outcomes of the cases who had undergone retrograde intrarenal surgery (RIRS) in our clinics. Methods: Outcomes of 100 cases who had undergone RIRS because of renal stones between February 2012, and May 2013 were retrospectively evaluated. Results: Study population consisted of 35 female and 65 male patients with a mean age of 36.81(1-76) years. RIRS was performed with the indication of rest double J (D-J) stent (n=1), and renal stone (n=99). Mean stone size was 15.26 (5-27) mm. Preoperatively, 61 cases (61%) had preexisting D-J stents, while 39 (39%) cases were stentless. Access sheaths were used in 86 (86%) cases, while in 14 (14%) cases the procedure was applied without using an access sheath. Mean operative, and fluoroscopy times were 52.72 (10-120) minus, and 57.32 (10-180) seconds, respectively. Postoperatively D-J stents were implanted in 88 (88%) cases, and 12 (12%) cases were stent-free. Mean hospital time was 1.3 (1-7) days. After one month postoperatively, stone-free rate was achieved in 87 (87%) patients. Clinically insignificant residual stone fragments (CIRF) 6 (6%), and residual stones 7 (7%) were also detected. The latter group consisted of cases with horseshoe kidney (n=1), pelvic kidney (n=1), and kyphoscoliosis (n=1). Also in two case procedure was terminated prematurely, because of blurring of the vision secondary to bleeding. Apart from these patients, any preoperative complication did not develop. During follow-up period, urinary tract infection developed in 3 patients with resultant renal parenchymal damage in one patient. In one patient, D-J stent migrated into ureter. Conclusion: Retrograde intrarenal surgery is an effective and safe technique in the management of renal stones

Predictors of Enhancing Human Physical Attractiveness: Data from 93 Countries

People across the world and throughout history have gone to great lengths to enhance their physical appearance. Evolutionary psychologists and ethologists have largely attempted to explain this phenomenon via mating preferences and strategies. Here, we test one of the most popular evolutionary hypotheses for beauty-enhancing behaviors, drawn from mating market and parasite stress perspectives, in a large cross-cultural sample. We also test hypotheses drawn from other influential and non-mutually exclusive theoretical frameworks, from biosocial role theory to a cultural media perspective. Survey data from 93,158 human participants across 93 countries provide evidence that behaviors such as applying makeup or using other cosmetics, hair grooming, clothing style, caring for body hygiene, and exercising or following a specific diet for the specific purpose of improving ones physical attractiveness, are universal. Indeed, 99% of participants reported spending \u3e10 min a day performing beauty-enhancing behaviors. The results largely support evolutionary hypotheses: more time was spent enhancing beauty by women (almost 4 h a day, on average) than by men (3.6 h a day), by the youngest participants (and contrary to predictions, also the oldest), by those with a relatively more severe history of infectious diseases, and by participants currently dating compared to those in established relationships. The strongest predictor of attractiveness-enhancing behaviors was social media usage. Other predictors, in order of effect size, included adhering to traditional gender roles, residing in countries with less gender equality, considering oneself as highly attractive or, conversely, highly unattractive, TV watching time, higher socioeconomic status, right-wing political beliefs, a lower level of education, and personal individualistic attitudes. This study provides novel insight into universal beauty-enhancing behaviors by unifying evolutionary theory with several other complementary perspectives

Prevalence of X-aneuploidies, X-structural abnormalities and 46, XY sex reversal in Turkish women with primary amenorrhea or premature ovarian insufficiency

Our objective was to identify the distribution of cytogenetic abnormalities of 175 Turkish women with primary amenorrhea (PA) or premature ovarian insufficiency (POI). A retrospective study was performed using medical records of 94 patients with PA and 81 patients with POI at the Genetics Department, Zeynep Kamil Women's and Children's Research and Training Hospital, Istanbul, Turkey. G-banded metaphase kaiyotype analysis were prepared and analyzed. Chromosomal abnormalities were present in 44 of 175 cases (25%). 15 were full blown or mosaic numerical X chromosome abnormalities (8.5%), 10 were full blown or mosaic X-chromosome structural anomalies (5.7%), one was X-autosome translocation (0.5%), 3 were autosomal anomalies (1.7%), 12 were XY kaiyotype (6.8%), one was 45,X/46,XY mosaic and 2 were full blown or mosaic structural anomalies of Y chromosome (1.7%). The prevalence of chromosomal abnormalities was 25% in this large series of Turkish women with primary amenorrhea or premature ovarian insufficiency, most cases involving X-aneuploidy or X-structural abnormalities or 46,XY karyotype. High prevalence of chromosomal abnormalities is associated with POI starting at an early age (average age: 26 years). (C) 2014 Elsevier Ireland Ltd. All rights reserved

Novel missense mutation related To KBG syndrome

Introduction: KBG syndrome (KBGS) (OMIM:#148050) is a rare autosomal dominant disease characterized by short stature, intellectual disability, characteristic facies, skeletal anomalies and macrodontia which mostly effect permanent upper central incisors. Mutations of ANKRD11 gene on 16q24.3 causes KBGS. This gene encodes Ankyrin Repeat Domain-Containing Protein 11 that regulates transcriptional activation. Case: Eight-year-old male patient was referred to our clinic because of having seizures and dysmorphism. He was the fourth child of healthy parents who had a first cousin marriage. His prenatal, natal and postnatal history were unremarkable. He had no developmental delay. At the age of 4, he had his first seizure. His height, weight and OFC(occipitofrontal circumference) were 125 cm (-1.31 SD), 28 kg (-0,19 SD) and 50 cm (-2,11 SD) respectively. He had micro-brachycephaly, thick eyebrows, long eyelashes, long and smooth philtrum, thin upper lip, prominent ears, macrodontia (10 mm), bilateral clinodactyly of fifth fingers. Other systemic examinations were normal. His karyotype was 46,XY and array-CGH was normal. ANKRD11 gene sequencing revealed a heterozygous novel c.4425G>T (p.Arg1475Ser) missense mutation. Segregation analysis showed that it was de novo. Conclusion: Herein we report a novel missense mutation in ANKRD11 gene. Our case will contribute to this syndrome’s genotype-phenotype correlations

Evaluation of Niğde Sineksizyayla Metagabbro as concrete aggregate

Bu makale Niğde ili sınırları içerisinde geniş bir yaydım gösteren Sineksizyayla Metagabrosu üzerinde yapılmış bir çalışmayı kapsamaktadır. Bu metagabronun agrega olarak kullanılabilirliğini araştırmak amacıyla bir seri analiz ve test yapılmıştır. İnce kesitler üzerinde mineralojiktpetrografik analiz yapılmış ve kimyasal analiz ile bileşimleri belirlenmiştir. Kuru birim hacim ağırlık, özgül ağırlık, görünür porozite, su emme gibi fiziksel özellikler ve tek eksenli sıkışma dayanımı, agrega darbe dayanımı (AIV), Los Angeles aşınma kaybı, sodyum sülfat çözeltisindeki don kaybı gibi mekanik özellikler tespit edilmiştir. Analiz ve test sonuçlarının değerlendirilmesiyle Sineksizyayla Metagabrosunun alkali reaktivitesi düşük çimentolarla kullanılması durumunda beton agregası olarak kullanılmasında bir sakınca olmayacağı anlaşılmıştır.This paper describes a study carried out on Sineksizyayla Metagabbro spreading In Niğde Area. Numerous analyses and tests were performed on Sineksizyayla Metagabbro to investigate the possibility of using it as aggregate. Mineralogical-petrographical analysis were conducted on thin sections and chemical compositions was obtained, by chemical analysis. Physical properties such as dry unit weight, specific gravity, effective porosity, water absorption and mechanical properties such as uniaxial compressive strength, aggregate impact value (AIV), Los Angeles abrasion value, sodium sulphate soundness were determined. According to the results of the analyses and the tests were evaluated, it was concluded that Sineksizyayla Metagabbro can be used as concrete aggregate by cement that has low alcali reactitivy

AN ANALYSIS ON TEACHER AND STUDENT SUICIDES

Egitimin nihai amaci bireyin kendisiyle ve çevresiyle uyumlu mutlu bireylerin yetistirilmesini saglamaktir. Yapilan çalismalar egitim ve intihar arasinda bir iliskinin var oldugunu göstermektedir. Bu çalismanin amaci ögretmen ve ögrenci intihar olaylarina iliskin tutumlari incelemektir. Buna bagli olarak bir sosyal medya sitesinde intihar eden bir ögrenci ve bir ögretmen haberi seçilmis ve bu haberlere iliskin yapilan yorumlar nitel arastirma yöntemlerinden doküman incelemesi teknigi kullanilarak elde edilen bulgularin içerik analizi yapilmistir. Içerik analizi sirasiyla problem durumunun belirlenmesi, örneklem grubunun seçilmesi, analiz birimlerinin belirlenmesi, kullanilacak kategorilerin belirlenmesi, kodlamalarin yapilmasi, geçerlilik ve güvenilirliginin test edilmesi asamalarindan olusmaktadir. Arastirma sonucunda ögrenci intiharinin içerik analizinde egitim sistemi, aile kurumu ve çocuk ana temalarina bagli olarak ölçme yöntemi, örgün egitimin içerigi, rehberlik hizmeti, ebeveyn egitimi, ebeveyn tutumu, aile içi iletisim ve ögrencilerin giriskenligi alt temalari olusturdugu bulgulanmistir. Ögretmen intiharinin ana temalarini ise bireyin karakteri ve egitim sistemi; alt temalari ise giriskenligi, hayatin amacini, ölçme ve degerlendirme sistemini, egitim planlamasini, istisare ve rehberlik hizmetini kapsamaktadir. Ögreten ve ögrenenin intiharina iliskin yapilan bu çalisma egitim ile intihar arasindaki iliskinin varligini dogrulamakla beraber egitim sistemiyle ile ilgili büyük ölçekte çözümlerin olmasi gerektigi konusunda öneriler sunmaktadir. The purpose of the education is to ensure that the individual is able to grow happy individuals who are harmonious with himself and his environment. Studies show that there is a relationship between education and suicide. The aim of this study is to examine attitudes towards teacher and student suicide. Accordingly, of news a student and a teacher who committed suicide on a social media site were selected and and interpretations of these news were analyzed the content of the obtained findings by using the document review technique from the qualitative research methods. Content analysis is composed of stages of problem situation determination, selection of sample group, determination of analysis units, determination of categories to be used, coding, testing of validity and reliability. As a result of the research, in the content analysis of the student suicide were determined three main themes, (the education system, the family institution and the child) and depending on this main thema is formed sub-themess of methods of measurement, contents of structured education, guidance service, parent education, parental attitude, communication within the family and the students' entrepreneurship. The main themes of teacher suicide are the individual's personality and education system; sub-themes include sourcing, the purpose of life, measurement and evaluation system, training planning, consultation and guidance services. This study on the suicide of the teacher and the learner confirms the existence of the relationship between education and suicide and presents suggestions about the solution of the education system in large scale

Kompleks genotipe sahip bir retinitis pigmentoza olgusu

Amaç: Retinitis Pigmentoza (RP) retinal fotoreseptör anormallikleri nedeniyle ilerleyici görme kaybı ile karakterize kalıtımsal bir hastalıktır. Genetik olarak oldukça heterojen olup otozomal resesif(OR), otozomal dominant(OD), X’e bağlı resesif, nadiren digenik olarak kalıtılabilmektedir. Bu çalışmada birinde bialelik, diğerinde monoalelik olmak üzere iki farklı gende klinik durumla ilişkili mutasyon saptadığımız nonsendromik bir RP olgusu sunulmaktadır. Olgu: RP ön tanısıyla tarafımıza yönlendirilen 25 yaşında erkek olgu, ilk kez 5 yaşında başlayan ve giderek artan görme kaybı tariflemekteydi. Ebeveynleri arasında akraba evliliği tanımlamayan hastanın ailesinde benzer öykü yoktu. Oftalmolojik bakısı tipik RP bulguları gösteren olgunun sistemik değerlendirmesinde başka bir bulgu saptanmadı. Nonsendromik RP tanısıyla RP ile ilişkilendirilmiş 73 gen yeni nesil dizileme yöntemiyle tarandı. Yapılan analizde olguda OR RP ile ilişkilendirilmiş PROM1 geninde homozigot c.2023C>T(p.Arg675*) ve OD RP ile ilişkilendirilmiş PRPF8 geninde heterozigot c.4980C>G (p.Tyr1660*) mutasyonları saptandı. Veritabanlarında ve popülasyon çalışmalarında saptanmamış nadir bir varyasyon olan PRPF8 c.4980C>G varyasyonu ACMG kriterlerine göre patojenik olarak değerlendirildi. Segregasyon analizi ve aile taraması planlandı. Sonuç: RP hastalarının genetik heterojenite ve farklı kalıtım özellikleri nedeniyle altta yatan moleküler defekt açısından geniş paneller ile değerlendirilmesi nadiren de olsa hastamızda olduğu gibi iki farklı moleküler defektin gözden kaçmaması için önemli olup daha etkin bir genetik danışma verilmesine olanak sağlamaktadır