Volume CXIV, Number 4, November 7, 1996

Objective: Turner syndrome (TS) is a chromosomal disorder caused by complete or partial X chromosome monosomy that manifests various clinical features depending on the karyotype and on the genetic background of affected girls. This study aimed to systematically investigate the key clinical features of TS in relationship to karyotype in a large pediatric Turkish patient population.Methods: Our retrospective study included 842 karyotype-proven TS patients aged 0-18 years who were evaluated in 35 different centers in Turkey in the years 2013-2014.Results: The most common karyotype was 45,X (50.7%), followed by 45,X/46,XX (10.8%), 46,X,i(Xq) (10.1%) and 45,X/46,X,i(Xq) (9.5%). Mean age at diagnosis was 10.2±4.4 years. The most common presenting complaints were short stature and delayed puberty. Among patients diagnosed before age one year, the ratio of karyotype 45,X was significantly higher than that of other karyotype groups. Cardiac defects (bicuspid aortic valve, coarctation of the aorta and aortic stenosis) were the most common congenital anomalies, occurring in 25% of the TS cases. This was followed by urinary system anomalies (horseshoe kidney, double collector duct system and renal rotation) detected in 16.3%. Hashimoto's thyroiditis was found in 11.1% of patients, gastrointestinal abnormalities in 8.9%, ear nose and throat problems in 22.6%, dermatologic problems in 21.8% and osteoporosis in 15.3%. Learning difficulties and/or psychosocial problems were encountered in 39.1%. Insulin resistance and impaired fasting glucose were detected in 3.4% and 2.2%, respectively. Dyslipidemia prevalence was 11.4%.Conclusion: This comprehensive study systematically evaluated the largest group of karyotype-proven TS girls to date. The karyotype distribution, congenital anomaly and comorbidity profile closely parallel that from other countries and support the need for close medical surveillance of these complex patients throughout their lifespa

Multiple Myeloma Treatment in Real-world Clinical Practice : Results of a Prospective, Multinational, Noninterventional Study

Funding Information: The authors would like to thank all patients and their families and all the EMMOS investigators for their valuable contributions to the study. The authors would like to acknowledge Robert Olie for his significant contribution to the EMMOS study. Writing support during the development of our report was provided by Laura Mulcahy and Catherine Crookes of FireKite, an Ashfield company, a part of UDG Healthcare plc, which was funded by Millennium Pharmaceuticals, Inc, and Janssen Global Services, LLC. The EMMOS study was supported by research funding from Janssen Pharmaceutical NV and Millennium Pharmaceuticals, Inc. Funding Information: The authors would like to thank all patients and their families and all the EMMOS investigators for their valuable contributions to the study. The authors would like to acknowledge Robert Olie for his significant contribution to the EMMOS study. Writing support during the development of our report was provided by Laura Mulcahy and Catherine Crookes of FireKite, an Ashfield company, a part of UDG Healthcare plc, which was funded by Millennium Pharmaceuticals, Inc, and Janssen Global Services, LLC. The EMMOS study was supported by research funding from Janssen Pharmaceutical NV and Millennium Pharmaceuticals, Inc. Funding Information: M.M. has received personal fees from Janssen, Celgene, Amgen, Bristol-Myers Squibb, Sanofi, Novartis, and Takeda and grants from Janssen and Sanofi during the conduct of the study. E.T. has received grants from Janssen and personal fees from Janssen and Takeda during the conduct of the study, and grants from Amgen, Celgene/Genesis, personal fees from Amgen, Celgene/Genesis, Bristol-Myers Squibb, Novartis, and Glaxo-Smith Kline outside the submitted work. M.V.M. has received personal fees from Janssen, Celgene, Amgen, and Takeda outside the submitted work. M.C. reports honoraria from Janssen, outside the submitted work. M. B. reports grants from Janssen Cilag during the conduct of the study. M.D. has received honoraria for participation on advisory boards for Janssen, Celgene, Takeda, Amgen, and Novartis. H.S. has received honoraria from Janssen-Cilag, Celgene, Amgen, Bristol-Myers Squibb, Novartis, and Takeda outside the submitted work. V.P. reports personal fees from Janssen during the conduct of the study and grants, personal fees, and nonfinancial support from Amgen, grants and personal fees from Sanofi, and personal fees from Takeda outside the submitted work. W.W. has received personal fees and grants from Amgen, Celgene, Novartis, Roche, Takeda, Gilead, and Janssen and nonfinancial support from Roche outside the submitted work. J.S. reports grants and nonfinancial support from Janssen Pharmaceutical during the conduct of the study. V.L. reports funding from Janssen Global Services LLC during the conduct of the study and study support from Janssen-Cilag and Pharmion outside the submitted work. A.P. reports employment and shareholding of Janssen (Johnson & Johnson) during the conduct of the study. C.C. reports employment at Janssen-Cilag during the conduct of the study. C.F. reports employment at Janssen Research and Development during the conduct of the study. F.T.B. reports employment at Janssen-Cilag during the conduct of the study. The remaining authors have stated that they have no conflicts of interest. Publisher Copyright: © 2018 The AuthorsMultiple myeloma (MM) remains an incurable disease, with little information available on its management in real-world clinical practice. The results of the present prospective, noninterventional observational study revealed great diversity in the treatment regimens used to treat MM. Our results also provide data to inform health economic, pharmacoepidemiologic, and outcomes research, providing a framework for the design of protocols to improve the outcomes of patients with MM. Background: The present prospective, multinational, noninterventional study aimed to document and describe real-world treatment regimens and disease progression in multiple myeloma (MM) patients. Patients and Methods: Adult patients initiating any new MM therapy from October 2010 to October 2012 were eligible. A multistage patient/site recruitment model was applied to minimize the selection bias; enrollment was stratified by country, region, and practice type. The patient medical and disease features, treatment history, and remission status were recorded at baseline, and prospective data on treatment, efficacy, and safety were collected electronically every 3 months. Results: A total of 2358 patients were enrolled. Of these patients, 775 and 1583 did and did not undergo stem cell transplantation (SCT) at any time during treatment, respectively. Of the patients in the SCT and non-SCT groups, 49%, 21%, 14%, and 15% and 57%, 20%, 12% and 10% were enrolled at treatment line 1, 2, 3, and ≥ 4, respectively. In the SCT and non-SCT groups, 45% and 54% of the patients had received bortezomib-based therapy without thalidomide/lenalidomide, 12% and 18% had received thalidomide/lenalidomide-based therapy without bortezomib, and 30% and 4% had received bortezomib plus thalidomide/lenalidomide-based therapy as frontline treatment, respectively. The corresponding proportions of SCT and non-SCT patients in lines 2, 3, and ≥ 4 were 45% and 37%, 30% and 37%, and 12% and 3%, 33% and 27%, 35% and 32%, and 8% and 2%, and 27% and 27%, 27% and 23%, and 6% and 4%, respectively. In the SCT and non-SCT patients, the overall response rate was 86% to 97% and 64% to 85% in line 1, 74% to 78% and 59% to 68% in line 2, 55% to 83% and 48% to 60% in line 3, and 49% to 65% and 36% and 45% in line 4, respectively, for regimens that included bortezomib and/or thalidomide/lenalidomide. Conclusion: The results of our prospective study have revealed great diversity in the treatment regimens used to manage MM in real-life practice. This diversity was linked to factors such as novel agent accessibility and evolving treatment recommendations. Our results provide insight into associated clinical benefits.publishersversionPeer reviewe

Impact of opioid-free analgesia on pain severity and patient satisfaction after discharge from surgery: multispecialty, prospective cohort study in 25 countries

Background: Balancing opioid stewardship and the need for adequate analgesia following discharge after surgery is challenging. This study aimed to compare the outcomes for patients discharged with opioid versus opioid-free analgesia after common surgical procedures.Methods: This international, multicentre, prospective cohort study collected data from patients undergoing common acute and elective general surgical, urological, gynaecological, and orthopaedic procedures. The primary outcomes were patient-reported time in severe pain measured on a numerical analogue scale from 0 to 100% and patient-reported satisfaction with pain relief during the first week following discharge. Data were collected by in-hospital chart review and patient telephone interview 1 week after discharge.Results: The study recruited 4273 patients from 144 centres in 25 countries; 1311 patients (30.7%) were prescribed opioid analgesia at discharge. Patients reported being in severe pain for 10 (i.q.r. 1-30)% of the first week after discharge and rated satisfaction with analgesia as 90 (i.q.r. 80-100) of 100. After adjustment for confounders, opioid analgesia on discharge was independently associated with increased pain severity (risk ratio 1.52, 95% c.i. 1.31 to 1.76; P < 0.001) and re-presentation to healthcare providers owing to side-effects of medication (OR 2.38, 95% c.i. 1.36 to 4.17; P = 0.004), but not with satisfaction with analgesia (beta coefficient 0.92, 95% c.i. -1.52 to 3.36; P = 0.468) compared with opioid-free analgesia. Although opioid prescribing varied greatly between high-income and low- and middle-income countries, patient-reported outcomes did not.Conclusion: Opioid analgesia prescription on surgical discharge is associated with a higher risk of re-presentation owing to side-effects of medication and increased patient-reported pain, but not with changes in patient-reported satisfaction. Opioid-free discharge analgesia should be adopted routinely

The Crimean Tatars : The Situation of the Indigenous People of Crimea from the Occupation of Crimea in 2014 to the Occupation of Ukraine in 2022

As Russia continues to occupy Crimea since 2014, we would like to examine the situation of Crimean Tatars, the indigenous people of Crimea. The Crimean Tatars are a Turkic-Muslim people who emerged in Crimea in the Middle Ages as a result of an amalgam of autochthonous and settler ethnic communities of the peninsula that took place within the framework of the Crimean Khanate. The Khanate was a descendent of the Chingizid Golden Horde Empire and in time developed a strong alliance and cooperation with the Ottoman Empire. The Khanate came to an end with the Russian annexation of Crimea in 1783, and Russia colonized the peninsula in the 19th century, leading to the exodus of indigenous Crimean Tatars towards the Ottoman territories in the Balkans and Anatolia. The remaining Tatars who developed nationalism in the beginning of the 20th century obtained their autonomous republic in the Soviet Union, but Russian de-Tatarization of the peninsula culminated in the deportation of all the indigenous population under Stalin’s orders on 18 May 1944. The Crimean Tatars managed to return to their homeland by the early 1990s, and obtained de facto recognition from independent Ukraine, where Crimea belonged in the post-Soviet period. The fate of Crimean Tatars deteriorated grossly with the Russian occupation and so-called “annexation” of Crimea in 2014, and Crimean Tatars had to suffer again under a new phase of colonialism. While a minority of Crimean Tatars were exiled to mainland Ukraine and joined the Ukrainian struggle to take back Crimea in a newly achieved political cooperation with Ukraine, the Crimean Tatar diaspora rejuvenated to support this effort. With the occupation of Ukraine in 2022, the Crimean Tatars in Crimea and occupied regions of Kherson and Zaporizhzhia were further persecuted. We would like trace the diverse trajectories of Crimean Tatars throughout these events and evaluate the condition of national identity and national movement of Crimean Tatars today.Non UBCUnreviewedFacult

Comparative Cases in Long-Distance Nationalism:Explaining the Émigré, Exile, Diaspora and Transnational Movements of the Crimean Tatars

This dissertation is an attempt to explore the unexpected mobilization of the Crimean Tatar diaspora in the recent decades. Why and how did the Crimean Tatar communities, all of which resided outside their homeland, develop a political identity and engage in nationalist mobilization in the 1990s? How did the communities, living apart from each other, in some cases for more than a century, mobilize simultaneously? What explains the variation in forms of mobilization among these communities? Does the transnational mobilization of the Crimean Tatars amount to an emergence of a transnational nation? I explore these questions by comparing the cases of the Crimean Tatar diaspora communities, located in the former USSR, Romania, Turkey, and the United States across space and time. This dissertation attempts to develop a dynamic theory of diaspora by demonstrating how recent unexpected mobilization was a consequence of the interaction of movement framing processes with discursive and political opportunity structures. I emphasize the unique set of political and discursive opportunities that emerged in the transnational political space due to new technologies of communication and ease of transportation that precipitated simultaneous mobilization of communities as well as the attempt for constructing a transnational nation. The thesis also introduces a typology long-distance nationalism which includes newly developed concepts of émigré, exile, diaspora and transnational nationalism to explain the variation in identities and mobilization of these communities. The theoretical framework developed in this study will be useful for studying and comparing other cases of diasporas.Ph

Determination of aluminum induced programmed cell death characterized by DNA fragmentation in Gramineae species

Aluminum (Al) toxicity is one of the major abiotic stress factors that decreases crop yield in acidic soils. Al inhibits the root growth and development due to cellular toxicity including nucleus, chromosome and DNA alterations. Although some Al-induced programmed cell death (PCD) features were identified, there are limited comparative and time-dependent studies. The aim of this study is to compare the Al-induced time-dependent DNA fragmentation, the most widely evaluated criterion for PCD in six agronomic plant (maize, wheat, triticale, rye, barley and oat) roots concerning their Al tolerance. Roots were exposed to 100 mu M AlCl3 solution (pH 4.5) for different times (1/2, 1, 2, 3, 4, 5, 6, 7, 8 h). All genomic DNA was isolated from control and AlCl3 treated roots. Isolated DNA samples were analyzed by electrophoretically and DNA fragmentation was observed in triticale, rye, barley and oat roots, but not in maize and wheat. The obtained DNA fragmentation shows that wheat and maize are more tolerant than triticale, rye, barley and oat in which the PCD is active as early as 1/2 h after Al induction. The results obtained can provide a better understanding into the Al induced PCD and Al tolerance in plants

Distribution and chemical speciation of heavy metals in the surficial sediments of the Bakircay and Gediz Rivers, Eastern Aegean

The pollution of aquatic ecosystem by heavy metals has assumed serious proportions due to their toxicity and accumulative behaviour. The toxicity and fate of the water borne metal is dependent on its chemical form and therefore quantification of the different forms of metal is more meaningful than the estimation of its total metal concentrations. A five-step sequential extraction procedure was applied for the determination of the distribution of seven elements (Pb, Cr, Cu, Mn, Zn, Ni, Fe) in sediment samples collected from BakA +/- r double dagger ay and Gediz Rivers. According to this study, the results of metals are mostly retained in the residual, oxidizable and reducible fractions. Based on the chemical distribution of metals, we found that Cr, Zn, Cu and Ni are the most non-mobile metals. Pb is the metal that showed the highest percentages in the residual and reducible fractions. Mn is present in the higher percentages in the reducible and carbonate fractions. However, Fe is present in the greatest percentages in the residual fraction, which implies that these metals are strongly linked to the sediments. The risk assessment code as applied to the present study shows that about 12.3-26.9 and 15.7-33.5% of manganese at most of the sites exist in carbonate fraction in the BakA +/- r double dagger ay and Gediz Rivers, respectively. Therefore, Mn comes under the medium risk category in the BakA +/- r double dagger ay and high-risk category in the Gediz River. Speciation pattern of Cu, Zn, Pb, Cr, Ni, Fe shows low to medium risk to aquatic environment health in both rivers