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Sample records for technology james turner

  1. Turner Syndrome

    Science.gov (United States)

    Turner syndrome is a genetic disorder that affects a girl's development. The cause is a missing or incomplete ... t work properly. Other physical features typical of Turner syndrome are Short, "webbed" neck with folds of skin ...

  2. James Wallbank (Redundant Technology Initiative) (RTI) / James Wallbank ; interv. Tilman Baumgärtel

    Index Scriptorium Estoniae

    Wallbank, James

    2006-01-01

    James Wallbank (sünd. 1966) on RTI (Aegunud Tehnoloogia Initsiatiiv), mis hoiab alates 2000. aastast käigus Interneti-kohvikut "Access Space") Sheffieldis, rajaja. J. Wallbank 6. 10. 2000 tehtud intervjuus RTI-st, mis kasutab oma installatsioonides, skulptuurides ja teistes madaltehnoloogilistes teostes vanu arvuteid, installatsioonist näitusel "net_condition" Karlssruhe Kunsti- ja Meediatehnoloogia Keskuses (1999), tööst "Network Low Tech Video Wall" (2000) ja muust

  3. Turner Syndrome

    Science.gov (United States)

    ... Failure to begin sexual changes expected during puberty Sexual development that "stalls" during teenage years Early end to menstrual cycles not due to pregnancy For most women with Turner syndrome, inability to ...

  4. Turner Syndrome

    Science.gov (United States)

    ... crowding, and osteoporosis (brittle bones). Because of their physical conditions, health concerns, and infertility, some girls and women with TS may have low self- esteem, anxiety, or depression. How is Turner syndrome diagnosed? Physical features may ...

  5. Turner Syndrome: Other FAQs

    Science.gov (United States)

    ... Other FAQs Share Facebook Twitter Pinterest Email Print Turner Syndrome: Other FAQs Basic information for topics, such as " ... been diagnosed with Turner syndrome. Now what? Is Turner syndrome inherited? Turner syndrome is usually not inherited, but ...

  6. Turner Syndrome

    Directory of Open Access Journals (Sweden)

    Ramachandran Sudarshan

    2012-08-01

    Full Text Available Turner syndrome is a genetic disorder that affects mostly females. Affected females have characteristic features such as short stature, premature ovarian failure, and several other features. Oral manifestations of this condition are not much discussed in the literature. But reported literature includes teeth, palate, periodontal and salivary changes. So the aim of this review is to illustrate the general manifestations, and especially the oral manifestations of Turner syndrome and evaluate their possible management. [Archives Medical Review Journal 2012; 21(4.000: 246-252

  7. Turner Syndrome (For Teens)

    Science.gov (United States)

    ... Staying Safe Videos for Educators Search English Español Turner Syndrome KidsHealth / For Teens / Turner Syndrome What's in this ... en español El síndrome de Turner What Is Turner Syndrome? Turner syndrome (TS) is a genetic condition found ...

  8. Genetics Home Reference: Turner syndrome

    Science.gov (United States)

    ... Email Facebook Twitter Home Health Conditions Turner syndrome Turner syndrome Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Turner syndrome is a chromosomal condition that affects development in ...

  9. Media, Digital Technology and Learning in Sport: A Critical Response to Hodkinson, Biesta and James

    Science.gov (United States)

    Enright, Eimear; Gard, Michael

    2016-01-01

    Background: In their 2008 paper, Hodkinson, Biesta and James draw on the sociological theories of Pierre Bourdieu to construct what they claim is a "holistic" theoretical framework for understanding learning. While not an attempt to dissolve the long-standing opposition between "cognitive" and "situated" theories, the…

  10. Learning about Turner Syndrome

    Science.gov (United States)

    Skip to main content Learning About Turner Syndrome Enter Search Term(s): Español Research Funding An Overview Bioinformatics Current Grants Education and Training Funding Extramural Research News Features Funding Divisions Funding ...

  11. Greening Turner Valley

    International Nuclear Information System (INIS)

    Byfield, M.

    2010-01-01

    This article discussed remedial activities undertaken in the Turner Valley. Remedial action in the valley must satisfy the financial concerns of engineers and investors as well as the environmental concerns of residents and regulators. Natural gas production in the Turner Valley began in 1914. The production practices were harmful and wasteful. Soil and water pollution was not considered a problem until recently. The impacts of cumulative effects and other pollution hazards are now being considered as part of many oil and gas environmental management programs. Companies know it is cheaper and safer to prevent pollutants from being released, and more efficient to clean them up quickly. Oil and gas companies are also committed to remediating historical problems. Several factors have simplified remediation plans in the Turner Valley. Area real estate values are now among the highest in Alberta. While the valley residents are generally friendly to the petroleum industry, strong communication with all stakeholders in the region is needed. 1 fig.

  12. James Gillies

    CERN Multimedia

    2008-01-01

    "Physicist James gillies is chief of communications at CERN (the European Organisation for Nuclear Research). Based in the Jura foothills, just outside Geneva, Gillies is part of a teamt hat will fire up CERN's Large Hadron Collierd (LHC) - the most complicated piece of scientific equipment ever built." (1/2 page)

  13. Totally James

    Science.gov (United States)

    Owens, Tom

    2006-01-01

    This article presents an interview with James Howe, author of "The Misfits" and "Totally Joe". In this interview, Howe discusses tolerance, diversity and the parallels between his own life and his literature. Howe's four books in addition to "The Misfits" and "Totally Joe" and his list of recommended books with lesbian, gay, bisexual, transgender,…

  14. What Are the Symptoms of Turner Syndrome?

    Science.gov (United States)

    ... Pinterest Email Print What are the symptoms of Turner syndrome? Turner syndrome causes a variety of symptoms in girls and ... some people, symptoms are mild, but for others, Turner syndrome can cause serious health problems. In general, women ...

  15. Combining multicriteria decision analysis, ethics and health technology assessment: applying the EVIDEM decisionmaking framework to growth hormone for Turner syndrome patients

    Directory of Open Access Journals (Sweden)

    Grégoire Jean-Pierre

    2010-04-01

    Full Text Available Abstract Objectives To test and further develop a healthcare policy and clinical decision support framework using growth hormone (GH for Turner syndrome (TS as a complex case study. Methods The EVIDEM framework was further developed to complement the multicriteria decision analysis (MCDA Value Matrix, that includes 15 quantifiable components of decision clustered in four domains (quality of evidence, disease, intervention and economics, with a qualitative tool including six ethical and health system-related components of decision. An extensive review of the literature was performed to develop a health technology assessment report (HTA tailored to each component of decision, and content was validated by experts. A panel of representative stakeholders then estimated the MCDA value of GH for TS in Canada by assigning weights and scores to each MCDA component of decision and then considered the impact of non-quantifiable components of decision. Results Applying the framework revealed significant data gaps and the importance of aligning research questions with data needs to truly inform decision. Panelists estimated the value of GH for TS at 41% of maximum value on the MCDA scale, with good agreement at the individual level (retest value 40%; ICC: 0.687 and large variation across panelists. Main contributors to this panel specific value were "Improvement of efficacy", "Disease severity" and "Quality of evidence". Ethical considerations on utility, efficiency and fairness as well as potential misuse of GH had mixed effects on the perceived value of the treatment. Conclusions This framework is proposed as a pragmatic step beyond the current cost-effectiveness model, combining HTA, MCDA, values and ethics. It supports systematic consideration of all components of decision and available evidence for greater transparency. Further testing and validation is needed to build up MCDA approaches combined with pragmatic HTA in healthcare decisionmaking.

  16. Turner syndrome with primary hyperparathyroidism

    Directory of Open Access Journals (Sweden)

    Jungmee Park

    2013-06-01

    Full Text Available Turner syndrome has multiple comorbidities such as osteoporosis, obesity, diabetes, hypothyroidism, and hypertension. As they are treatable conditions in Turner syndrome, early recognition and proper treatment should be needed. We report on a 23-year-old woman with Turner syndrome who presented with severe osteoporosis and hypercalcemia. Laboratory tests showed elevated levels of serum calcium and parathyroid hormone. Dual-energy X-ray absorptiometry showed severe osteopo-rosis (z score, -3.5. Ultrasound and 99mTc scintigraphy of parathyroid glands showed an adenoma in the right inferior gland. She was diagnosed with primary hyperparathyroidism due to an adenoma of the parathyroid gland. After excision of the adenoma, the patient's serum calcium and parathyroid hormone levels returned to normal. Although only a few cases of Turners syndrome with primary hyperparathyroidism have been reported, hyperparathyroidism should be considered in cases of Turner syndrome with severe osteoporosis and hypercalcemia.

  17. Sir William Turner (1832-1916) - Lancastrian, anatomist and champion of the Victorian era.

    Science.gov (United States)

    Wessels, Quenton; Correia, Janine Carla; Taylor, Adam M

    2016-11-01

    Sir William Turner, a Lancastrian, was renowned as a scientist, anatomist and a great reformer of medical education. His students became anatomists at various international institutions, which consequently shaped the future of anatomy as a subject matter both in the United Kingdom and in South Africa. Although Turner's accomplishments have been documented, little is known about the details that determined his career path and the individuals that shaped his future. Here the authors aim to highlight some aspects of Turner's academic achievements and his personal life as well as how he crossed paths with other great minds of the Victorian era including Richard Owen, Charles Darwin, James Paget and Joseph Lister. © The Author(s) 2015.

  18. Cardiovascular screening in Turner syndrome

    International Nuclear Information System (INIS)

    Dawson, K.L.; Wright, A.M.; Pitlick, P.T.

    1990-01-01

    This paper determines the utility of MR imaging as a cardiovascular screening method in patients with Turner syndrome and to compare its utility with that of echocardiography. Forty females with karytotypically proved Turner syndrome were prospectively evaluated with MR imaging and echocardiography. A 0.38-T resistive magnet was used to obtain ECG-gated axial and off-sagittal oblique images through the thorax with a spin-echo pulse sequence and TR 400--600 msec, TE 15--30 msec. Two-dimensional, M-mode, and Doppler echocardiography were performed and standard echocardiographic views were obtained

  19. Cognitive Profile of Turner Syndrome

    Science.gov (United States)

    Hong, David; Kent, Jamie Scaletta; Kesler, Shelli

    2009-01-01

    Turner syndrome (TS) is a relatively common neurogenetic disorder characterized by complete or partial monosomy-X in a phenotypic female. TS is associated with a cognitive profile that typically includes intact intellectual function and verbal abilities with relative weaknesses in visual-spatial, executive, and social cognitive domains. In this…

  20. Extending the Technological, Discursive, and Rhetorical Horizons of Academic Research Libraries' Information Architectures: An Analysis of North Carolina State University's James B. Hunt Jr. Library

    Science.gov (United States)

    Carr, Patrick L.

    2017-01-01

    This dissertation analyzes how North Carolina State University's (NCSU) James B. Hunt Jr. Library extends the ways in which the information architectures of academic research libraries can function as a technology, as discourse, and as rhetoric. The starting point for the analysis is the libraries of antiquity, which functioned technologically as…

  1. Mosaic Turner syndrome associated with schizophrenia.

    Science.gov (United States)

    Jung, Sook Young; Park, Joo Won; Kim, Dong Hyun; Jun, Yong Hoon; Lee, Jeong Seop; Lee, Ji Eun

    2014-03-01

    Turner syndrome is a sex-chromosome disorder; occurring in 1 in 2,500 female births. There are sporadic few case reports of concomitant Turner syndrome with schizophrenia worldwide. Most Turner females had a 45,X monosomy, whereas the majority of comorbidity between Turner syndrome and schizophrenia had a mosaic karyotype (45,X/46,XX). We present a case of a 21-year-old woman with Turner syndrome, mosaic karyotype (45,X/46,XX), showing mental retardation, hypothyroidism, and schizophrenia. HOPA gene within Xq13 is related to mental retardation, hypothyroidism, and schizophrenia. Our case may be a potential clue which supports the hypothesis for involvement of genes on X chromosome in development of schizophrenia. Further studies including comorbid cases reports are need in order to discern the cause of schizophrenia in patients having Turner syndrome.

  2. Cardiovascular risk in Turner syndrome.

    Science.gov (United States)

    Donato, Beatriz; Ferreira, Maria João

    2018-06-01

    Turner syndrome is a relatively common genetic disorder of female development, characterized by partial or complete absence of an X chromosome, with a variable clinical presentation. Congenital or acquired cardiovascular disease is highly prevalent and a major cause of early death in this syndrome. The most feared complication is aortic dissection, which can occur at a very young age and requires careful assessment of its risk factors. A systematic literature search identified sixty relevant publications. These were reviewed with regard to the increased risk of cardiovascular disease in women with Turner syndrome, especially in pregnancy. The most common congenital cardiovascular defects are presented and illustrated with appropriate iconography. The current recommendations regarding the screening and monitoring of cardiovascular disease in these patients are discussed. Copyright © 2018 Sociedade Portuguesa de Cardiologia. Publicado por Elsevier España, S.L.U. All rights reserved.

  3. Reproductive Issues in Women with Turner Syndrome.

    Science.gov (United States)

    Folsom, Lisal J; Fuqua, John S

    2015-12-01

    Turner syndrome is one of the most common chromosomal abnormalities affecting female infants. The severity of clinical manifestations varies and it affects multiple organ systems. Women with Turner syndrome have a 3-fold increase in mortality, which becomes even more pronounced in pregnancy. Reproductive options include adoption or surrogacy, assisted reproductive techniques, and in rare cases spontaneous pregnancy. Risks for women with Turner syndrome during pregnancy include aortic disorders, hepatic disease, thyroid disease, type 2 diabetes, and cesarean section delivery. Providers must be familiar with the risks and recommendations in caring for women with Turner syndrome of reproductive age. Copyright © 2015 Elsevier Inc. All rights reserved.

  4. The Use of the Molecular Adsorber Coating Technology to Mitigate Vacuum Chamber Contamination During Pathfinder Testing for the James Webb Space Telescope

    Science.gov (United States)

    Abraham, Nithin S.; Hasegawa, Mark M.; Wooldridge, Eve M.; Henderson-Nelson, Kelly A.

    2016-01-01

    As a coating made of highly porous zeolite materials, the Molecular Adsorber Coating (MAC) was developed to capture outgassed molecular contaminants, such as hydrocarbons and silicones. For spaceflight applications, the adsorptive capabilities of the coating can alleviate on-orbit outgassing concerns on or near sensitive surfaces and instruments within the spacecraft. Similarly, this sprayable paint technology has proven to be significantly beneficial for ground based space applications, in particular, for vacuum chamber environments. This paper describes the recent use of the MAC technology during Pathfinder testing of the Optical Ground Support Equipment (OGSE) for the James Webb Space Telescope (JWST) at NASA Johnson Space Center (JSC). The coating was used as a mitigation tool to entrap persistent outgassed contaminants, specifically silicone based diffusion pump oil, from within JSC's cryogenic optical vacuum chamber test facility called Chamber A. This paper summarizes the sample fabrication, installation, laboratory testing, post-test chemical analysis results, and future plans for the MAC technology, which was effectively used to protect the JWST test equipment from vacuum chamber contamination.

  5. Grey-Turner's sign in sclerosing peritonitis

    NARCIS (Netherlands)

    Stouthard, J. M.; Krediet, R. T.; Arisz, L.

    1989-01-01

    A 41-year-old CAPD patient developed Grey-Turner's sign during the course of bacterial peritonitis due to Pseudomonas aeruginosa. At the same time a diagnosis of sclerosing peritonitis was made by CT-scanning of the abdomen. We think that Grey-Turner's flank staining could either have been caused by

  6. Multimodality cardiac imaging in Turner syndrome.

    Science.gov (United States)

    Mortensen, Kristian H; Gopalan, Deepa; Nørgaard, Bjarne L; Andersen, Niels H; Gravholt, Claus H

    2016-06-01

    Congenital and acquired cardiovascular diseases contribute significantly to the threefold elevated risk of premature death in Turner syndrome. A multitude of cardiovascular anomalies and disorders, many of which deleteriously impact morbidity and mortality, is frequently left undetected and untreated because of poor adherence to screening programmes and complex clinical presentations. Imaging is essential for timely and effective primary and secondary disease prophylaxis that may alleviate the severe impact of cardiovascular disease in Turner syndrome. This review illustrates how cardiovascular disease in Turner syndrome manifests in a complex manner that ranges in severity from incidental findings to potentially fatal anomalies. Recommendations regarding the use of imaging for screening and surveillance of cardiovascular disease in Turner syndrome are made, emphasising the key role of non-invasive and invasive cardiovascular imaging to the management of all patients with Turner syndrome.

  7. Parent-of-origin effects in Turner Syndrome patients

    OpenAIRE

    Wang, Jada; Styers, Marshall; Sayres, Melissa Wilson

    2015-01-01

    Turner Syndrome patients have a single X chromosome, without a partner, X or Y. It has been suggested that the inheritance of the maternal X or paternal X may affect the severity of Turner Syndrome, as well as the incidence of mental disorders in Turner Syndrome individuals. Parental imprinting on the X chromosome may lead to different phenotypic variations in Turner Syndrome patients. In this project, we conduct an analysis of the current state of research on Turner Syndrome, and review the ...

  8. Turner Syndrome and Its Variants

    Directory of Open Access Journals (Sweden)

    Semra Gürsoy

    2017-12-01

    Full Text Available Turner syndrome (TS is a genetic disorder which is characterized by the complete or partial absence of the X chromosome. The incidence is 1/2500 female live births. The main clinical findings are short stature, primary amenorrhea and infertility, and phenotypical features include webbed neck, a low posterior hairline, cubitus valgus and shortening of the fourth metacarpal. While 1% of all still births have 45,X monosomy, this rate has been reported to be approximately 10% in spontaneous abortions. The karyotype is determined as 45,X in about half of the patients. Therefore, most of the TS fetuses are considered to end in spontaneous abortion and only mosaic cases survive to term. Isochromosome Xq is the most common structural rearrangement of the X chromosome. Furthermore, ring X chromosome, deletions and Y chromosome abnormalities can be detected in patients with TS.

  9. Autoimmune diseases in women with Turner's syndrome

    DEFF Research Database (Denmark)

    Jørgensen, Kristian T; Rostgaard, Klaus; Bache, Iben

    2010-01-01

    OBJECTIVE: In terms of number of X chromosomes, women with Turner's syndrome cytogenetically resemble men. An increased risk of autoimmune diseases has been observed among women with Turner's syndrome. This study was undertaken to investigate whether the autoimmune disease profile in women...... with Turner's syndrome is characterized by diseases with a female or male predominance. METHODS: Using the Danish Cytogenetic Central Register, the Danish National Patient Register, and the Danish Civil Registration System, we estimated relative risk of 46 different autoimmune diseases in a cohort of 798...... Danish women with Turner's syndrome followed up for 12,461 person-years between 1980 and 2004. Standardized incidence ratios (SIRs) of first hospitalization for autoimmune disease and 95% confidence intervals (95% CIs) were used as measures of relative risk. RESULTS: The overall risk of autoimmune...

  10. Mosaic Turner syndrome and hyperinsulinaemic hypoglycaemia

    DEFF Research Database (Denmark)

    Alkhayyat, H.; Christesen, Henrik Thybo; Steer, J.

    2006-01-01

    BACKGROUND: A common and well recognised feature of Turner's syndrome (partial or total monosomy X) is impaired glucose tolerance or type 2 diabetes mellitus. A small percentage of patients with Turner's syndrome have a complex mosaic karyotype with atypical clinical features and mental retardation....... METHODS/PATIENT: We report the first case of a child with a complex mosaic Turner genotype and hyperinsulinaemic hypoglycaemia responsive to diazoxide therapy. RESULTS: Cytogenetic analysis showed four cell lines: one with 45,X; the others with an additional small ring chromosome, a small marker...... chromosome, and both the ring and marker chromosomes, respectively. FISH studies showed the abnormal chromosomes to originate from an X. The X inactivation locus (XIST) was present in the ring, but not in the marker chromosome. CONCLUSIONS: The recognition of hypoglycaemia in children with atypical Turner...

  11. Coronary artery anomalies in Turner Syndrome.

    Science.gov (United States)

    Viuff, Mette H; Trolle, Christian; Wen, Jan; Jensen, Jesper M; Nørgaard, Bjarne L; Gutmark, Ephraim J; Gutmark-Little, Iris; Mortensen, Kristian H; Gravholt, Claus Højbjerg; Andersen, Niels H

    Congenital heart disease, primarily involving the left-sided structures, is often seen in patients with Turner Syndrome. Moreover, a few case reports have indicated that coronary anomalies may be more prevalent in Turner Syndrome than in the normal population. We therefore set out to systematically investigate coronary arterial anatomy by computed tomographic coronary angiography (coronary CTA) in Turner Syndrome patients. Fifty consecutive women with Turner Syndrome (mean age 47 years [17-71]) underwent coronary CTA. Patients were compared with 25 gender-matched controls. Coronary anomaly was more frequent in patients with Turner Syndrome than in healthy controls [20% vs. 4% (p = 0.043)]. Nine out of ten abnormal cases had an anomalous left coronary artery anatomy (absent left main trunk, n = 7; circumflex artery originating from the right aortic sinus, n = 2). One case had a tubular origin of the right coronary artery above the aortic sinus. There was no correlation between the presence of coronary arterial anomalies and karyotype, bicuspid aortic valve, or other congenital heart defects. Coronary anomalies are highly prevalent in Turner Syndrome. The left coronary artery is predominantly affected, with an absent left main coronary artery being the most common anomaly. No hemodynamically relevant coronary anomalies were found. Copyright © 2016 Society of Cardiovascular Computed Tomography. All rights reserved.

  12. James Watt's Leicester Walk

    OpenAIRE

    Bell, Kathleen

    2016-01-01

    a poem in which James Watt, inventor of the separate condenser, walks through contemporary Leicester (his route is from Bonners Lane and alongside the canal, taking in the Statue of Liberty on its traffic island near Sage Road). It is derived from the exercise of taking a character for a walk,

  13. How James Wood Works

    Science.gov (United States)

    Goldstein, Evan R., Comp.

    2008-01-01

    Reading through news-media clippings about James Wood, one might reasonably conclude that "pre-eminent critic" is his official job title. In fact, Wood is a staff writer for "The New Yorker" and a professor of the practice of literary criticism at Harvard University. But at a time when there is much hand-wringing about the death of the…

  14. Border mythology: Turner and modernity

    Directory of Open Access Journals (Sweden)

    Jorge E. Brenna B.

    2011-07-01

    Full Text Available Modernity has been creating spaces, new boundaries and borders, as metaphysical, mythological and symbolic marks of physical and imaginary territories. Modern space and its borders are metaphors, boundaries that are created, walls that rise to identify with some and categorize others. In this short paper we want to approach the problem of the transformation of the idea of border (geographical, cultural, symbolic, etc., for a reflection on the transformations of that civilized obsession called border. The border has always been a reference in facing the identities, names, symbols, different imaginary: it is more confrontational line between two otherness. From the previous framework, we reflect on Turnerian mythology, as we believe that behind the creation of the imagination of the northern border is the mythical vision of the American frontier as ideological canon that explains and confirms the presence of the white race in a border re–made in the image and likeness of the “American Dream”. Frederick Turner’s reflection on the role of the frontier in American history is not only the study of the importance of progress towards the West but –even more so, is the analysis of meaning that had the American frontier as a historical process that ended in 1893, as Turner said, but rather extended into the twentieth century and continues to constantly shaping the process of territorialization of the border.

  15. Fertility preservation in Turner syndrome.

    Science.gov (United States)

    Grynberg, Michaël; Bidet, Maud; Benard, Julie; Poulain, Marine; Sonigo, Charlotte; Cédrin-Durnerin, Isabelle; Polak, Michel

    2016-01-01

    Premature ovarian insufficiency is a relatively rare condition that can appear early in life. In a non-negligible number of cases the ovarian dysfunction results from genetic diseases. Turner syndrome (TS), the most common sex chromosome abnormality in females, is associated with an inevitable premature exhaustion of the follicular stockpile. The possible or probable infertility is a major concern for TS patients and their parents, and physicians are often asked about possible options to preserve fertility. Unfortunately, there are no recommendations on fertility preservation in this group. The severely reduced follicle pool even during prepubertal life represents the major limit for fertility preservation and is the root of numerous questions regarding the competence of gametes or ovarian tissue crybanked. In addition, patients suffering from TS show higher than usual rates of spontaneous abortion, fetal anomaly, and maternal morbidity and mortality, which should be considered at the time of fertility preservation and before reutilization of the cryopreserved gametes. Apart from fulfillment of the desire of becoming genetic parents, TS patients may be potential candidates for egg donation, gestational surrogacy, and adoption. The present review discusses the different options for preserving female fertility in TS and the ethical questions raised by these approaches. Copyright © 2016 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.

  16. [Rapidly progressive puberty in a patient with mosaic Turner syndrome: a case report and literature review].

    Science.gov (United States)

    Liang, Y; Wei, H; Yu, X; Huang, W; Luo, X P

    2017-02-02

    Objective: To explore the clinical characteristics of diagnosis and treatment in patients with Turner syndrome and rapidly progressive puberty. Method: A rare case of rapidly progressive puberty in Turner syndrome with a mosaic karyotype of 45, X/46, X, del(X)(p21)(80%/20%)was diagnosed at Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology in January. 2015. Clinical characteristics and the related literature were reviewed. Original papers on precocious puberty or rapidly progressive puberty in Turner syndrome, published until Apr. 2016 were retrieved at PubMed and CNKI databases by the use of the key words "Turner syndrome" , "precocious puberty" and "rapidly progressive puberty" . Result: The patient was born at term with birth weight of 2 450 g and was diagnosed with SGA at 3 years of age for the first evaluating of growth and development. Then recombined human growth hormone (rhGH )was given at 4 years of age due to short stature (heightTurner syndrome is reported. Although short stature and ovarian dysgenesis are common in TS, precocious puberty may occur in TS, which is liable to cause delayed diagnosis and misdiagnosis. Careful examination is recommended for patients with unusual growth pattern, even though girls have normal height in accord with standard growth curve or spontaneous puberty. Evaluation for TS and subsequent investigation should be prompted.

  17. How Do Health Care Providers Diagnose Turner Syndrome?

    Science.gov (United States)

    ... Email Print How do health care providers diagnose Turner syndrome? Health care providers use a combination of physical ... the X chromosomes is partially or completely missing. Turner syndrome also can be diagnosed during pregnancy by testing ...

  18. Growth hormone deficiency in a Nigerian child with Turner's syndrome

    African Journals Online (AJOL)

    IRORO YARHERE

    Growth hormone treatment early in the course of management of a child with Turner syndrome may help achieve normal final height. Keywords: Turner's syndrome, short stature, growth hormone deficiency, growth hormone ..... cognitive deficit.

  19. Thyroid Autoimmunity in Girls with Turner Syndrome.

    Science.gov (United States)

    Witkowska-Sędek, Ewelina; Borowiec, Ada; Kucharska, Anna; Chacewicz, Karolina; Rumińska, Małgorzata; Demkow, Urszula; Pyrżak, Beata

    2017-01-01

    Turner syndrome is associated with increased incidence of autoimmune diseases, especially those of the thyroid gland. The aim of this study was to assess the prevalence of thyroid autoimmunity among pediatric patients with Turner syndrome. The study was retrospective and included 41 girls with Turner syndrome aged 6-18 years. Free thyroxine (FT4), thyroid stimulating hormone (TSH), anti-thyroid peroxidase (TPO-Ab) antibodies, anti-thyroglobulin (TG-Ab) antibodies, and karyotype were investigated. The correlation between karyotype and incidence of thyroid autoimmunity was also examined. Eleven patients (26.8%) were positive for TPO-Ab and/or TG-Ab. Three girls from that subgroup were euthyroid, 5 had subclinical hypothyroidism, and 3 were diagnosed with overt hypothyroidism. Out of these 11 patients affected by thyroid autoimmunity, 6 girls had mosaic karyotype with X-isochromosome (n = 4) or with deletions (n = 2), and 5 had the 45,X karyotype. The study findings confirmed a high incidence of thyroid autoimmunity in girls with Turner syndrome, but we failed to observe an association between the incidence of thyroid autoimmunity and karyotype. We conclude that it is important to monitor thyroid function in patients with Turner syndrome because they are prone to develop hypothyroidism.

  20. Partial anomalous pulmonary venous return in Turner syndrome

    NARCIS (Netherlands)

    Hoven, A.T. van den; Chelu, R.G.; Duijnhouwer, A.L.; Demulier, L.; Devos, D.; Nieman, K.; Witsenburg, M.; Bosch, A.E. van den; Loeys, B.L.; Hagen, I.M. van; Roos-Hesselink, J.W.

    2017-01-01

    PURPOSE: The aim of this study is to describe the prevalence, anatomy, associations and clinical impact of partial anomalous pulmonary venous return in patients with Turner syndrome. METHODS AND RESULTS: All Turner patients who presented at our Turner clinic, between January 2007 and October 2015

  1. Sex hormone replacement in Turner syndrome

    DEFF Research Database (Denmark)

    Trolle, Christian; Hjerrild, Britta; Cleemann, Line Hartvig

    2012-01-01

    The cardinal features of Turner syndrome (TS) are short stature, congenital abnormalities, infertility due to gonadal dysgenesis, with sex hormone insufficiency ensuing from premature ovarian failure, which is involved in lack of proper development of secondary sex characteristics and the frequent...... osteoporosis seen in Turner syndrome. But sex hormone insufficiency is also involved in the increased cardiovascular risk, state of physical fitness, insulin resistance, body composition, and may play a role in the increased incidence of autoimmunity. Severe morbidity and mortality affects females with Turner...... syndrome. Recent research emphasizes the need for proper sex hormone replacement therapy (HRT) during the entire lifespan of females with TS and new hypotheses concerning estrogen receptors, genetics and the timing of HRT offers valuable new information. In this review, we will discuss the effects...

  2. [Nephrourologic pathology in girls with Turner syndrome].

    Science.gov (United States)

    Di Pinto, Diana; Balestracci, Alejandro; Dujovne, Noelia; de Palma, Isabel; Adragna, Marta; Delgado, Norma

    2010-08-01

    Nephrourologic malformations in Turner syndrome are frequent, its diagnosis and follow-up is important in order to diminish the morbidity of this disease. The aim of this retrospective study was to analyze the nephrourologic pathology in 72 girls with Turner syndrome followed between 1989 and 2008 at Garrahan Hospital. The prevalence of nephrourologic involvement was 33% (24 patients). The most frequent findings were urinary system malformations, isolated (10 pacientes, 42%) or associated with renal malformations (9 patients, 37%); 5 patients (21%) had only renal malformations. Fifty percent of patients developed complications (8 urinary tract infection, 2 proteinuria and 2 arterial hypertension); however, none progressed to chronic renal failure. The prevalence of nephrourologic involvement was 33% and a half of these girls developed complications, our findings show the need of routine nephrological follow-up of girls with Turner syndrome and nephrourologic malformations.

  3. Turner syndrome and meningioma: support for a possible increased risk of neoplasia in Turner syndrome.

    Science.gov (United States)

    Pier, Danielle B; Nunes, Fabio P; Plotkin, Scott R; Stemmer-Rachamimov, Anat O; Kim, James C; Shih, Helen A; Brastianos, Priscilla; Lin, Angela E

    2014-01-01

    Neoplasia is uncommon in Turner syndrome, although there is some evidence that brain tumors are more common in Turner syndrome patients than in the general population. We describe a woman with Turner syndrome (45,X) with a meningioma, in whom a second neoplasia, basal cell carcinomas of the scalp and nose, developed five years later in the absence of therapeutic radiation. Together with 7 cases of Turner syndrome with meningioma from a population-based survey in the United Kingdom, and 3 other isolated cases in the literature, we review this small number of patients for evidence of risk factors related to Turner syndrome, such as associated structural anomalies or prior treatment. We performed histological and fluorescent in situ hybridization (FISH) of 22q (NF2 locus) analyses of the meningeal tumor to search for possible molecular determinants. We are not able to prove causation between these two entities, but suggest that neoplasia may be a rare associated medical problem in Turner syndrome. Additional case reports and extension of population-based studies are needed. Copyright © 2014 Elsevier Masson SAS. All rights reserved.

  4. Increasing School Nurse Awareness of Turner Syndrome

    Science.gov (United States)

    Ardary, Darlene A.

    2007-01-01

    Turner syndrome, a genetic disorder that affects only females, can cause various physical, emotional, and educational disabilities. This disorder may go undiagnosed until school age or later. Short stature and lack of spontaneous puberty are common characteristics and can lead to teasing by peers. Some experience attention deficit and the…

  5. Language and Literacy in Turner Syndrome

    Science.gov (United States)

    Murphy, Melissa M.

    2009-01-01

    Language problems can be associated with specific genetic syndromes, such as Klinefelter syndrome and fragile X syndrome, even in the absence of intellectual and developmental disabilities. Turner syndrome, a relatively common genetic disorder, is caused by the complete or partial absence of 1 of the 2 X chromosomes typically present in women. The…

  6. Lichen sclerosus en het syndroom van Turner

    NARCIS (Netherlands)

    van Ijsselmuiden, Mèlanie N; Bos, Annelies M E; Hoek, Annemieke; van Beek, André P; Kerstens, Michiel N

    2010-01-01

    Lichen sclerosus was diagnosed at a young age (19, 22 and 37 years) in three women with Turner syndrome. The oldest of these patients had probably suffered from this disorder for over 20 years. The relatively young age of these three patients is remarkable. This observation also suggests an

  7. Physical fitness of schoolgirls with Turner syndrome

    NARCIS (Netherlands)

    Milde, K.; Tomaszewski, P.K.; Stupnicki, R.

    2013-01-01

    The aim of the study was to assess physical fitness of girls with Turner syndrome (TS) and to determine the relative contributions of age, body height, and body mass to performance in fitness tests. Girls with TS aged 10-18 years (n = 184), and age- and stature-matched healthy controls (n = 280)

  8. Entrevista a James Curran

    OpenAIRE

    Curran, James; Figueiras, Rita; Ribeiro, Nelson

    2012-01-01

    James Curran é professor catedrático e diretor do Goldsmiths Leverhulme Media Research Centre. A sua investigação centra-se sobretudo na relação entre os media e a democracia, quer através do ângulo da história dos media, quer da economia política dos media, áreas sobre as quais publicou mais de duas dezenas de livros, como Media and Democracy, Power without Responsability (co-autoria de Jean Seaton) e Media and Society. Na sua obra mais recente, Misunderstanding the Internet (co-autoria de N...

  9. Nailfold video capillaroscopy in Turner syndrome: a descriptive study

    OpenAIRE

    Coelho,Simone C. S.; Ramos,Andressa D.; Pinheiro,Virgínia S.; Solberg,Paulo F. C.; Faria,Janaina P. de; Naliato,Erika C. O.; Fernandes,Therezinha J.; Guimarães,Marília M.

    2007-01-01

    BACKGROUND: An increased prevalence of impaired glucose homeostasis is reported in Turner syndrome. Endothelial changes are described in patients with insulin resistance, which may be present in patients with Turner syndrome. Video capillaroscopy is a noninvasive examination that allows assessment of vascular patency. OBJECTIVE: To describe the nailfold morphology of capillaries in Turner syndrome using video capillaroscopy. METHODS: Subjects were studied in a temperature-controlled room, 20 ...

  10. An interview with James Briscoe.

    Science.gov (United States)

    Brown, Katherine

    2018-03-27

    James Briscoe is a group leader at The Francis Crick Institute in London. His lab's research focusses on the developing vertebrate spinal cord, with a particular interest in how sonic hedgehog gradients, and the downstream signal transduction and transcriptional networks, regulate the development of this tissue. In September 2018, James will become the new Editor-in-Chief of Development. We met with James to discuss his career and research interests, the importance of interdisciplinary thinking in developmental biology, and his views on the current state and future opportunities in scientific publishing. © 2018. Published by The Company of Biologists Ltd.

  11. Turner's prize[London transport policy

    Energy Technology Data Exchange (ETDEWEB)

    Sherrington, M.

    2000-10-26

    The article describes Ken Livingstone's plans for solving London's traffic problems: Derek Turner will be 'in charge of the capital's streets' but Livingstone will chair the board meetings. The radical new scheme will apply to both the Greater London Authority, its transport branch Transport for London (TfL) and 33 London Boroughs. Within TfL there is a core division called 'street management services' which has five area teams for day-to-day street management including road maintenance and street lighting. Other departments are communications, support services, traffic technology services, service development and performance, a London bus department and a department concentrating on congestion charging. There are plans to support pedestrians and cyclists but 'bus travel is really what it is all about'.

  12. James Blunt matuselaulude edetabeli tipus

    Index Scriptorium Estoniae

    2006-01-01

    Bereavement Registeri andmetel Suurbritannias matustel tellitavate laulude edetabelis: James Blunt "Goodbye My Lover", Robbie Williams "Angels", Jennifer Warnes ja Bill Medley "I've Had the Time Of My Life", Elton John "Candle in the Wind", Righteous Brothers "Unchained Melody"

  13. The Turner Syndrome: Cognitive Deficits, Affective Discrimination, and Behavior Problems.

    Science.gov (United States)

    McCauley, Elizabeth; And Others

    1987-01-01

    The study attemped to link cognitive and social problems seen in girls with Turner syndrome by assessing the girls' ability to process affective cues. Seventeen 9- to 17-year-old girls diagnosed with Turner syndrome were compared to a matched control group on a task which required interpretation of affective intention from facial expression.…

  14. Turner Syndrome in Girls Presenting with Coarctation of the Aorta.

    Science.gov (United States)

    Eckhauser, Aaron; South, Sarah T; Meyers, Lindsay; Bleyl, Steven B; Botto, Lorenzo D

    2015-11-01

    To evaluate the frequency of Turner syndrome in a population-based, statewide cohort of girls with coarctation of the aorta. The Utah Birth Defects Network was used to ascertain a cohort of girls between 1997 and 2011 with coarctation of the aorta. Livebirths with isolated coarctation of the aorta or transverse arch hypoplasia were included and patients with complex congenital heart disease not usually seen in Turner syndrome were excluded. Of 244 girls with coarctation of the aorta, 77 patients were excluded, leaving a cohort of 167 girls; 86 patients (51%) had chromosomal studies and 21 (12.6%) were diagnosed with Turner syndrome. All patients were diagnosed within the first 4 months of life and 5 (24%) were diagnosed prenatally. Fifteen patients (71%) had Turner syndrome-related findings in addition to coarctation of the aorta. Girls with mosaicism were less likely to have Turner syndrome-associated findings (3/6 mosaic girls compared with 12/17 girls with non-mosaic 45,X). Twelve girls (57%) diagnosed with Turner syndrome also had a bicommissural aortic valve. At least 12.6% of girls born with coarctation of the aorta have karyotype-confirmed Turner syndrome. Such a high frequency, combined with the clinical benefits of an early diagnosis, supports genetic screening for Turner syndrome in girls presenting with coarctation of the aorta. Copyright © 2015 Elsevier Inc. All rights reserved.

  15. MULTIMODAL IMAGING OF ANGIOID STREAKS ASSOCIATED WITH TURNER SYNDROME.

    Science.gov (United States)

    Chiu, Bing Q; Tsui, Edmund; Hussnain, Syed Amal; Barbazetto, Irene A; Smith, R Theodore

    2018-02-13

    To report multimodal imaging in a novel case of angioid streaks in a patient with Turner syndrome with 10-year follow-up. Case report of a patient with Turner syndrome and angioid streaks followed at Bellevue Hospital Eye Clinic from 2007 to 2017. Fundus photography, fluorescein angiography, and optical coherence tomography angiography were obtained. Angioid streaks with choroidal neovascularization were noted in this patient with Turner syndrome without other systemic conditions previously correlated with angioid streaks. We report a case of angioid streaks with choroidal neovascularization in a patient with Turner syndrome. We demonstrate that angioid streaks, previously associated with pseudoxanthoma elasticum, Ehlers-Danlos syndrome, Paget disease of bone, and hemoglobinopathies, may also be associated with Turner syndrome, and may continue to develop choroidal neovascularization, suggesting the need for careful ophthalmic examination in these patients.

  16. Mechanisms of Lethal Cerebrovascular Accidents in Turner Syndrome.

    Science.gov (United States)

    Byard, Roger W

    2016-05-01

    A case of intracerebral hemorrhage in Turner syndrome is reported with an analysis of possible causes of cerebrovascular accidents in this condition. A 42-year-old woman with known Turner syndrome died soon after hospital admission having been found unconscious at her home address. At autopsy, she showed typical features of Turner syndrome with short stature, webbing of the neck, underdeveloped breasts, and an increased carrying angle of the arm. Death was due to a large left-sided intracerebral hemorrhage extending from the left basal ganglia into the white matter of the frontal lobe and lateral ventricle. Cases of unexpected death in Turner syndrome may arise from occult cerebrovascular accidents which may be hemorrhagic or nonhemorrhagic. Associated features include hypertension, vascular malformations, accelerated atherogenesis, cystic medial necrosis, and moyamoya syndrome. The possibility of Turner syndrome should be considered in cases where there has been a lethal cerebrovascular event in a younger woman. © 2016 American Academy of Forensic Sciences.

  17. Turner syndrome: From birth to adulthood.

    Science.gov (United States)

    Ríos Orbañanos, Isabel; Vela Desojo, Amaia; Martinez-Indart, Lorea; Grau Bolado, Gema; Rodriguez Estevez, Amaya; Rica Echevarria, Itxaso

    2015-12-01

    Turner syndrome is characterized by a great variability of clinical manifestations caused by a total or partial loss of X-chromosome. A retrospective, descriptive study of the diagnosis, course, and current status of patients with Turner syndrome followed up at our section over the past 40 years, based on review of medical records supplemented with a telephone survey. Forty-five female patients with a current mean age of 22.95years (range 2-38) and a mean age at diagnosis of 4.71 were included. Sixty-three percent of them showed a mosaic karyotype. Short stature was the most common reason for consultation (54%), with increased prenatal diagnosis in most recent cases. Seventy-two percent have been treated with growth hormone, together with oxandrolone in 26%. Final stature was short in 69% of patients. Gonadal failure was found in 66%; most of whom received replacement therapy. Three patients achieved pregnancy by oocyte donation. The 31 adult patients are mainly monitored by the endocrinology (37.5%) and/or gynecology (34.4%) departments. As regards psychosocial aspects, 22% required support during school, and 80% completed middle to high level education. Two patients died, one due to dissecting aortic aneurysm and the other one, who had multiple pathological conditions, from respiratory failure. Short stature is the main cause of diagnosis in patients with Turner syndrome; most cases show genetic mosaicism. The most common clinical manifestations include short stature and gonadal failure. Eighty percent of patients complete middle or high education. In adulthood, follow-up is irregular, sometimes scarce, and clearly improvable. Copyright © 2015 SEEN. Published by Elsevier España, S.L.U. All rights reserved.

  18. Turner syndrome: neuroimaging findings: structural and functional.

    LENUS (Irish Health Repository)

    Mullaney, Ronan

    2009-01-01

    Neuroimaging studies of Turner syndrome can advance our understanding of the X chromosome in brain development, and the modulatory influence of endocrine factors. There is increasing evidence from neuroimaging studies that TX individuals have significant differences in the anatomy, function, and metabolism of a number of brain regions; including the parietal lobe; cerebellum, amygdala, hippocampus; and basal ganglia; and perhaps differences in "connectivity" between frontal and parieto-occipital regions. Finally, there is preliminary evidence that genomic imprinting, sex hormones and growth hormone have significant modulatory effects on brain maturation in TS.

  19. Fertility and Pregnancy in Turner Syndrome.

    Science.gov (United States)

    Bouet, Pierre-Emmanuel; Godbout, Ariane; El Hachem, Hady; Lefebvre, Maude; Bérubé, Lyne; Dionne, Marie-Danielle; Kamga-Ngande, Carole; Lapensée, Louise

    2016-08-01

    Turner syndrome (TS) occurs in one in 2500 live female births and is one of the most common chromosomal abnormalities in women. Pregnancies in women with TS, conceived with either autologous or donated oocytes, are considered high risk because of the associated miscarriages and life-threatening cardiovascular complications (aortic dissection, severe hypertension). Therefore, it is imperative to conduct a full preconception evaluation and counselling that includes cardiac assessment with Holter blood pressure monitoring, echocardiography, and thoracic MRI. Abnormal findings, such an aortic dilatation, mandate close monitoring throughout the pregnancy and the immediate postpartum period and could possibly contraindicate pregnancy. When in vitro fertilization using donated oocytes is performed in these women, only a single embryo should be transferred. Women with a Turner mosaic karyotype appear to have a lower risk of obstetrical and cardiovascular complications but should nevertheless undergo the full preconception evaluation. In this article, we offer guidelines on the management of women with TS in the preconception period, during pregnancy, and postpartum. Copyright © 2016 The Society of Obstetricians and Gynaecologists of Canada/La Société des obstétriciens et gynécologues du Canada. Published by Elsevier Inc. All rights reserved.

  20. [Human growth hormone and Turner syndrome].

    Science.gov (United States)

    Sánchez Marco, Silvia Beatriz; de Arriba Muñoz, Antonio; Ferrer Lozano, Marta; Labarta Aizpún, José Ignacio; Garagorri Otero, Jesús María

    2017-02-01

    The evaluation of clinical and analytical parameters as predictors of the final growth response in Turner syndrome patients treated with growth hormone. A retrospective study was performed on 25 girls with Turner syndrome (17 treated with growth hormone), followed-up until adult height. Auxological, analytical, genetic and pharmacological parameters were collected. A descriptive and analytical study was conducted to evaluate short (12 months) and long term response to treatment with growth hormone. A favourable treatment response was shown during the first year of treatment in terms of height velocity gain in 66.6% of cases (height-gain velocity >3cm/year). A favourable long-term treatment response was also observed in terms of adult height, which increased by 42.82±21.23cm (1.25±0.76 SDS), with an adult height gain of 9.59±5.39cm (1.68±1.51 SDS). Predictors of good response to growth hormone treatment are: A) initial growth hormone dose, B) time on growth hormone treatment until starting oestrogen therapy, C) increased IGF1 and IGFBP-3 levels in the first year of treatment, and D) height gain velocity in the first year of treatment. Copyright © 2015 Asociación Española de Pediatría. Publicado por Elsevier España, S.L.U. All rights reserved.

  1. Growth Curves for Girls with Turner Syndrome

    Directory of Open Access Journals (Sweden)

    Fabio Bertapelli

    2014-01-01

    Full Text Available The objective of this study was to review the growth curves for Turner syndrome, evaluate the methodological and statistical quality, and suggest potential growth curves for clinical practice guidelines. The search was carried out in the databases Medline and Embase. Of 1006 references identified, 15 were included. Studies constructed curves for weight, height, weight/height, body mass index, head circumference, height velocity, leg length, and sitting height. The sample ranged between 47 and 1,565 (total = 6,273 girls aged 0 to 24 y, born between 1950 and 2006. The number of measures ranged from 580 to 9,011 (total = 28,915. Most studies showed strengths such as sample size, exclusion of the use of growth hormone and androgen, and analysis of confounding variables. However, the growth curves were restricted to height, lack of information about selection bias, limited distributional properties, and smoothing aspects. In conclusion, we observe the need to construct an international growth reference for girls with Turner syndrome, in order to provide support for clinical practice guidelines.

  2. Vestibular dysfunction in Turner syndrome: a case report.

    Science.gov (United States)

    Baxter, Michael; Agrawal, Yuri

    2014-02-01

    Turner syndrome is a well-known cause of sensorineural hearing loss, and the lack of estrogen has been implicated in cochlear dysfunction. It has never been associated with vestibular dysfunction. We report a case of a patient with Turner syndrome who was found to have bilateral vestibular dysfunction based on video-oculography (VOG) testing. A single patient with a history of Turner syndrome who was found to have significant bilateral vestibular dysfunction. After noticing a deficit in the vestibulo-ocular reflexes on qualitative horizontal head impulse examination, the patient underwent VOG testing. VOG testing quantatively measures angular vestibulo-ocular reflex (AVOR) gain in the horizontal semicircular canal plane. AVOR gain represents the eye movement response to a head movement; in normal individuals the eye movement is fully compensatory and gain values are close to unity. VOG results showed AVOR gains of 0.29 and 0.36 on the right and left sides, respectively. We have presented a case of a woman with Turner syndrome with asymptomatic vestibular dysfunction demonstrated with VOG testing. Although there is a documented relationship between Turner syndrome and sensorineural hearing loss, there are no previous studies or case reports linking Turner syndrome and vestibular dysfunction. Additional research and added vigilance in monitoring Turner syndrome patients may be warranted.

  3. [Turner syndrome and genetic polymorphism: a systematic review].

    Science.gov (United States)

    Trovó de Marqui, Alessandra Bernadete

    2015-01-01

    To present the main results of the literature on genetic polymorphisms in Turner Syndrome and their association with the clinical signs and the etiology of this chromosomal disorder. The review was conducted in the PubMed database without any time limit, using the terms Turner syndrome and genetic polymorphism. A total of 116 articles were found, and based on the established inclusion and exclusion criteria 17 were selected for the review. The polymorphisms investigated in patients with Turner Syndrome were associated with growth deficit, causing short stature, low bone mineral density, autoimmunity and cardiac abnormalities, which are frequently found in patients with Turner Syndrome. The role of single nucleotide polymorphisms (SNPs) in the etiology of Turner syndrome, i.e., in chromosomal nondisjunction, was also confirmed. Genetic polymorphisms appear to be associated with Turner Syndrome. However, in view of the small number of published studies and their contradictory findings, further studies in different populations are needed in order to clarify the role of genetic variants in the clinical signs and etiology of the Turner Syndrome. Copyright © 2015 Sociedade de Pediatria de São Paulo. Publicado por Elsevier Editora Ltda. All rights reserved.

  4. James Stevens / James Stevens ; interv. Tilman Baumgärtel

    Index Scriptorium Estoniae

    Stevens, James

    2006-01-01

    Inglise disainerist James Stevensist (sünd. 1962) ja tema tegevusest. J. Stevens 2000. a. Amsterdamis tehtud intervjuus koos Jon Bainsi ja Kim Bulliga 1995. a. Londonis avatud Interneti-agentuurist Obsolete, 1996-2000 tegutsenud Interneti-kohvikust Backspace, mittekommertsiaalse juhtmeteta nerworki Consume.net rajamisest Londonis

  5. James Moir as Organic Chemist

    African Journals Online (AJOL)

    NICO

    James Moir (1874–1929) played an important role in the field of chemistry in South ... into the colour of organic compounds and the relationship be- tween colour ...... theory put forward by E.R.Watson,34 the depth of colour, or the displacement .... cover-glass, such as used in microscopy, to photograph absorp- tion bands ...

  6. James B. Macdonald: A Bibliography.

    Science.gov (United States)

    Brubaker, Dale L., Comp.; Brookbank, Gayle, Comp.

    1986-01-01

    Presents a bibliography of James B. Macdonald's writings and printed speeches arranged chronologically according to the educator's themes of inquiry. Macdonald's videotaped autobiography identifies four explorative stages: (1) Scientism, (2) person-centered humanism, (3) sociopolitical humanism, and (4) transcendentalism, signaling a need for…

  7. Increased prevalence of autoimmunity in Turner syndrome

    DEFF Research Database (Denmark)

    Mortensen, K H; Cleemann, L; Hjerrild, B E

    2009-01-01

    and karyotype. In conclusion, TS girls and women face a high prevalence of autoimmunity and associated disease with a preponderance towards hypothyroidism and CD. Thus, health care providers dealing with this patient group should be observant and test liberally for these conditions even before clinical symptoms......Individuals with Turner syndrome (TS) are prone to develop autoimmune conditions such as coeliac disease (CD), thyroiditis and type 1 diabetes (T1DM). The objective of the present study was to examine TS of various karyotypes for autoantibodies and corresponding diseases. This was investigated...... hypothyroid. Overall, 18% (19) presented with CD autoantibodies, of whom 26% (five) had CD. Anti-TPO and CD autoantibodies co-existed in 9% (10). Immunoglobulin A deficiency was found in 3% (three) of patients, who all had CD autoantibodies without disease. Among four patients with anti-GAD-65 none had T1DM...

  8. Chiari I malformation associated with turner syndrome

    Directory of Open Access Journals (Sweden)

    Kamble Jayaprakash Harsha

    2017-01-01

    Full Text Available Turner syndrome (TS is a rare genetic disease due to the absence of one X chromosome. Patients with TS have more subtle neurological/neuropsychiatric problems, while headache is an uncommon clinical presentation which needs attention. We report a 12-year-old child presenting with typical cough headache. Her magnetic resonance imaging revealed Chiari I malformation associated with TS. To the best of our knowledge, Chiari I malformation associated with TS is not described in literature. We report the first case of TS associated with Chiari I malformation. Interestingly, Chiari I malformation is also associated with Noonan's syndrome, which is a close morphological mimicker of TS, raising the possibility of sharing similar pathogenesis in both conditions.

  9. Terence S. Turner (1935-2015

    Directory of Open Access Journals (Sweden)

    Villarías-Robles, Juan J. R.

    2016-06-01

    Full Text Available U. S. anthropologist Terence S. Turner died in November, 2015, after a long and intense life devoted to studying the indigenous peoples of Brazil and Amazonia, especially the Kayapó. He was as keen to reconstruct their culture prior to contact with the Portuguese and later Brazilian frontier, as he was to monitor the transformation process that such contact stimulated. In the early 2000s, he was actively involved in the controversy triggered by Patrick Tierney’s Darkness in El Dorado: How Scientists and Journalists Devastated the Amazon, which dealt with the negative impact on the Yanomami of certain forms of scientific research conducted in the West.El antropólogo estadounidense Terence S. Turner falleció en noviembre de 2015, dejando tras de sí una larga e intensa vida dedicada a la investigación sobre los pueblos originarios del Brasil y la Amazonía, en particular sobre los Cayapó. Le interesó tanto la reconstrucción de su cultura anterior al contacto con la frontera portuguesa y luego brasileña como el proceso de transformación que este contacto estimuló. En los primeros años de la década de 2000 participó activamente en la controversia desencadenada por la publicación del libro Darkness in El Dorado: How Scientists and Journalists Devastated the Amazon, de Patrick Tierney, acerca del impacto negativo sobre los Yanomami de ciertas formas de investigación científica practicadas en Occidente.

  10. Turner Syndrome: Care of the Patient: Birth to Late Adolescence.

    Science.gov (United States)

    Paolucci, Denise Gruccio; Bamba, Vaneeta

    2017-06-01

    Turner syndrome (TS) is a genetic condition occurring in females resulting from the loss of part or all of one of the X chromosomes. The two hallmark features of Turner syndrome include short stature and primary ovarian insufficiency. In addition, Turner syndrome can involve multiple healthcare issues including cardiac and renal anomalies, autoimmune disorders, hearing loss, ophthalmologic issues, bone anomalies, dermatologic issues and psychosocial and educational concerns. The presenting signs of Turner syndrome can vary markedly, leading to delayed or even missed diagnosis. Early identification of TS allows for appropriate screening and surveillance evaluations and more timely treatment intervention. This article will provide an overview of the healthcare issues common to patients with TS, treatments available and the screening and surveillance testing that is recommended. Copyright© of YS Medical Media ltd.

  11. Cardiovascular evaluation in Turner syndrome: utility of MR imaging

    International Nuclear Information System (INIS)

    Dawson-Falk, K.; Bakker, B.; Rosenfeld, R.G.

    1992-01-01

    Forty patients with karyotypically proven Turner syndrome were prospectively studied using magnetic resonance imaging (MRI) and echocardiography in order to determine the frequency of cardiovascular anomalies and to assess the utility of both imaging modalities as methods for cardiovascular evaluation in Turner syndrome. Cardiovascular anomalies were found in 45% of patients. A high absolute prevalence of bicuspid aortic valve (17.5%) and aortic coarctation (12.5%) were observed relative to comparable series. Of clinically significant abnormalities, three of five aortic coarctations and four of five ascending aortic dilatations were solely MRI detected and not evident at echocardiographic examination. MRI is thus seen as a valuable adjunct to echocardiography in the cardiovascular evaluation of Turner syndrome patients. The usefulness of MRI primarily relates to its ability to provide excellent visualisation of the entire thoracic aorta where a large proportion of clinically significant anomalies occur in Turner syndrome. 23 refs., 2 tabs., 5 figs

  12. Cardiovascular evaluation in Turner syndrome: utility of MR imaging

    Energy Technology Data Exchange (ETDEWEB)

    Dawson-Falk, K; Bakker, B; Rosenfeld, R G [Stanford Univ., CA (United States). School of Medicine

    1992-08-01

    Forty patients with karyotypically proven Turner syndrome were prospectively studied using magnetic resonance imaging (MRI) and echocardiography in order to determine the frequency of cardiovascular anomalies and to assess the utility of both imaging modalities as methods for cardiovascular evaluation in Turner syndrome. Cardiovascular anomalies were found in 45% of patients. A high absolute prevalence of bicuspid aortic valve (17.5%) and aortic coarctation (12.5%) were observed relative to comparable series. Of clinically significant abnormalities, three of five aortic coarctations and four of five ascending aortic dilatations were solely MRI detected and not evident at echocardiographic examination. MRI is thus seen as a valuable adjunct to echocardiography in the cardiovascular evaluation of Turner syndrome patients. The usefulness of MRI primarily relates to its ability to provide excellent visualisation of the entire thoracic aorta where a large proportion of clinically significant anomalies occur in Turner syndrome. 23 refs., 2 tabs., 5 figs.

  13. Partial anomalous pulmonary venous return in Turner syndrome.

    Science.gov (United States)

    van den Hoven, Allard T; Chelu, Raluca G; Duijnhouwer, Anthonie L; Demulier, Laurent; Devos, Daniel; Nieman, Koen; Witsenburg, Maarten; van den Bosch, Annemien E; Loeys, Bart L; van Hagen, Iris M; Roos-Hesselink, Jolien W

    2017-10-01

    The aim of this study is to describe the prevalence, anatomy, associations and clinical impact of partial anomalous pulmonary venous return in patients with Turner syndrome. All Turner patients who presented at our Turner clinic, between January 2007 and October 2015 were included in this study and underwent ECG, echocardiography and advanced imaging such as cardiac magnetic resonance or computed tomography as part of their regular clinical workup. All imaging was re-evaluated and detailed anatomy was described. Partial anomalous pulmonary venous return was diagnosed in 24 (25%) out of 96 Turner patients included and 14 (58%) of these 24 partial anomalous pulmonary venous return had not been reported previously. Right atrial or ventricular dilatation was present in 11 (46%) of 24 partial anomalous pulmonary venous return patients. When studied with advanced imaging modalities and looked for with specific attention, PAPVR is found in 1 out of 4 Turner patients. Half of these patients had right atrial and/or ventricular dilatation. Evaluation of pulmonary venous return should be included in the standard protocol in all Turner patients. Copyright © 2017. Published by Elsevier B.V.

  14. James Peacock, Understanding Paul Auster

    Directory of Open Access Journals (Sweden)

    Chrysavgi Papayianni

    2011-10-01

    Full Text Available Paul Auster’s impressive gamut of work continues to incite fascination and controversy. Indeed, his compelling storytelling style taken together with his mixing of crime fiction and absurdism has made his readers and critics vacillate between praise and condemnation. James Peacock’s Understanding Paul Auster, sheds new light to otherwise obscure aspects of Auster’s novels, films, and other works undermining in this way the negative criticism of the past and thus creating a new appreciation fo...

  15. Conference James F.Buckli

    CERN Multimedia

    Buckli,J

    1988-01-01

    L'association du personnel a le plaisir d'accueillir Mons. James F.Buckli, astronaute, né en 1947. Il a participé à la mission Space Lab D1 qui pour la première fois mettait 8 personnes sur orbite.L'ass.du pers. remercie aussi Gordon White(s) de la mission américaine d'avoir permis d'organiser cette conférence

  16. A Conversation with James Hannan

    OpenAIRE

    Gilliland, Dennis; Ramamoorthi, R. V.

    2010-01-01

    Jim Hannan is a professor who has lived an interesting life and one whose fundamental research in repeated games was not fully appreciated until late in his career. During his service as a meteorologist in the Army in World War II, Jim played poker and made weather forecasts. It is curious that his later research included strategies for repeated play that apply to selecting the best forecaster. ¶ James Hannan was born in Holyoke, Massachusetts on September 14, 1922. He attended St. Jero...

  17. Obituary: James Houck (1940 - 2015)

    Science.gov (United States)

    Weedman, Daniel; Barry, Donald; Soifer, Thomas

    James R. Houck, the leading figure in developing infrared spectroscopy for astrophysics, died in Ithaca, NY, on September 18, 2015, at age 74 from complications of Alzheimer's Disease. He was born on October 5, 1940, in Mobile, Alabama, but lived much of his early life in Pittsburgh, Pennsylvania, where he received his undergraduate degree from Carnegie Institute of Technology. Jim spent his scientific career at Cornell University. He came to Cornell as a physics graduate student in 1962 and remained until his retirement as the Kenneth A. Wallace Professor of Astronomy in 2012. His only year away from Ithaca was as a Guggenheim Fellow at Caltech, and he declined job offers from other universities because of his opinion that Ithaca provided the best environment for raising his family. His passion for learning, doing, and teaching science by building instruments and understanding physics led to great benefits for his students and astronomy colleagues. After receiving his PhD in condensed matter physics, he changed fields to work in astronomy at Cornell. He first collaborated with colleague Martin Harwit to develop a rocket program at Cornell for infrared observations and made numerous treks to the White Sands Missile Range flying payloads on Aerobee sounding rockets. Jim emphasized building spectrographs and making pioneering observations with ground based, airborne, and rocket-borne infrared instrumentation. Jim flew on every airplane NASA provided for astronomy. Those were pioneering times. One of his survival stories was of the Learjet in which both engines flamed out over the Pacific when the pilot did a celebratory barrel role after successful completion of their observations. His observations with rockets and airplanes were primarily of a variety of Galactic objects, including planetary nebulae, HII regions, and stars. But the most notable was an observation on the Convair 990 that produced a prescient discovery paper in 1973 led by Jim which discovered bound

  18. Concurrent insulinoma with mosaic Turner syndrome: A case report.

    Science.gov (United States)

    Wang, Shaoyun; Yang, Lijuan; Li, Jie; Mu, Yiming

    2015-03-01

    Turner syndrome is a chromosomal abnormality in which the majority of patients have a 45XO karyotype, while a small number have a 45XO/47XXX karyotype. Congenital adrenal hyperplasia has been previously reported in patients with Turner syndrome. Although insulinomas are the most common type of functioning pancreatic neuroendocrine tumor and have been reported in patients with multiple endocrine neoplasias, the tumors have not been reported in patients with mosaic Turner syndrome. The present study reports the first case of an insulinoma in a patient with 45XO/47XXX mosaic Turner syndrome. The patient suffered from recurrent hypoglycemia, which was relieved following ingestion of glucose or food. A 5-h glucose tolerance test was performed and the levels of glucose, C-Peptide and insulin were detected. In addition, computed tomography (CT) and ultrasound scanning were performed to evaluate the possibility of an insulinoma. Pathological examination and karyotyping were performed on a surgical specimen and a whole blood sample, respectively. The patient was found to suffer from premature ovarian failure, and a physical examination was consistent with a diagnosis of Turner syndrome. An ultrasound scan demonstrated streak ovaries and the patient was found to have a 45XO/47XXX karyotype. Furthermore, a lesion was detected in the pancreas following CT scanning, which was identified as an insulinoma following surgical removal and histological examination. In conclusion, the present study reports the first case of an insulinoma in a patient with mosaic Turner syndrome. Since mosaic Turner syndrome and insulinoma are rare diseases, an association may exist that has not been previously identified.

  19. Intervjuu James Corneriga = Interview with James Corner / James Corner ; interv. Andres Sevtshuk

    Index Scriptorium Estoniae

    Corner, James

    2006-01-01

    Büroo Field Operations maastikuarhitekt ning Pennsylvania Ülikooli maastikuarhitektuuri osakonna juhataja James Corner oma büroost, maastikust kui "instrumendist", postindustriaalsete aladega seotud projektidest (New Yorgi High Line'i muutmine pargiks ja promenaadiks), tööst suuremahuliste maastikega (Fresh Kills'i soo, endise prügila muutmine pargialaks), maastikuarhitektuurist ja linnakujundusest (maastiku urbanism), õpetamise tähtsusest oma töös ja maastikuarhitektuuri ideede arendamisel. Bibl. lk. 24

  20. Turner syndrome: counseling prior to oocyte donation

    Directory of Open Access Journals (Sweden)

    Ester Silveira Ramos

    2007-03-01

    Full Text Available Ovarian failure is a typical feature of Turner syndrome (TS. Patients are followed clinically with hormone replacement therapy (HRT and inclusion in the oocyte donation program, if necessary. For patients with spontaneous puberty, genetic counseling regarding preimplantation genetic diagnosis and prenatal diagnosis is indicated. Patients with dysgenetic gonads and a Y chromosome are at increased risk of developing gonadoblastoma. Even though this is not an invasive tumor, its frequent association with other malignant forms justifies prophylactic gonadectomy. It is important to perform gonadectomy before HRT and pregnancy with oocyte donation. Among patients with TS stigmata and female genitalia, many have the Y chromosome in one of the cell lines. For this reason, all patients should undergo cytogenetic analysis. Nevertheless, in cases of structural chromosomal alterations or hidden mosaicism, the conventional cytogenetic techniques may be ineffective and molecular investigation is indicated. The author proposes a practical approach for investigating women with TS stigmata in whom identification of the X or Y chromosome is important for clinical management and follow-up.

  1. [Turner syndrome: Study of 42 cases].

    Science.gov (United States)

    Bahíllo-Curieses, M Pilar; Prieto-Matos, Pablo; Quiroga González, Rocío; Regueras Santos, Laura; Blanco Barrio, Amaya; Rupérez Peña, Sara

    2016-10-21

    Turner syndrome (TS) is characterized by short stature, gonadal dysgenesis, and total or partial loss of X chromosome. A historical cohorts study of patients with TS≤18 years old followed up in public hospitals in Castilla y Leon was undertaken. Forty-two female patients were included (prenatal diagnosis 11.9%, neonatal diagnosis 14.3%) with current median age 11.9±4.2 years. Short stature was the reason for consultation in 87.1%. Total monosomy of X chromosome was present in 40.5%. The most frequently associated comorbidity was opthalmological (50%), with heart defects in 23.8%. Ninety-three percent were treated with growth hormone (GH), mean age at the beginning of treatment was 7.43±3.4 years and mean height standard deviation was -2.84±1.08. Final height was reached in 10 patients only (mean final height 151.47±6.09cm). Chronological age of puberty induction was 13.2±0.94 years (bone age 12.47±1.17 years). Short stature was an important clinical sign for the diagnosis of TS, accompanied in some cases by other findings, with good response to GH treatment. Copyright © 2016 Elsevier España, S.L.U. All rights reserved.

  2. Short Bi-Iliac Distance in Prenatal Ullrich-Turner Syndrome

    DEFF Research Database (Denmark)

    Hartling, Ulla B.; Hansen, Birgit Fischer; Keeling, Jean W.

    2002-01-01

    prenatal; Ullrich-Turner syndrome; pelvis; iliac bone; vertebral column; X chromosome; anthropometry; radiography......prenatal; Ullrich-Turner syndrome; pelvis; iliac bone; vertebral column; X chromosome; anthropometry; radiography...

  3. Obstetric and neonatal outcome after oocyte donation in 106 women with Turner syndrome

    DEFF Research Database (Denmark)

    Hagman, Anna; Loft, Anne; Wennerholm, Ulla-Britt

    2013-01-01

    What are the obstetric and neonatal outcomes of deliveries after oocyte donation (OD) in women with Turner syndrome (TS)?......What are the obstetric and neonatal outcomes of deliveries after oocyte donation (OD) in women with Turner syndrome (TS)?...

  4. Craniofacial morphology in Turner syndrome patients treated with growth hormone

    Directory of Open Access Journals (Sweden)

    Jovana Julsoki

    2015-05-01

    Full Text Available ABSTRACT Introduction: In addition to well-established physical characteristics, Turner syndrome patients have distinct craniofacial morphology. Since short stature is the most typical characteristic, Turner syndrome patients are commonly treated with growth hormone in order to increase final height. At the same time, growth hormone treatment was found to influence craniofacial growth and morphology in various groups of treated patients. Whereas craniofacial characteristics of Turner syndrome patients are well documented, comparatively little is known of craniofacial morphology of those who are treated with growth hormone. Aim: The aim of this study was to investigate craniofacial morphology in Turner syndrome patients treated with growth hormone in comparison to healthy females. Materials and methods: The cephalometric evaluation was conducted on twenty lateral cephalograms of Turner syndrome patients (13.53 ± 4.04 years treated with growth hormone for at least one year (4.94 ± 1.92 years in average. As a control group, forty lateral cephalograms of healthy female controls, who matched Turner syndrome patients by chronological (11.80 ± 2.37 years and skeletal age, were used. Eleven angular, seven linear measurements and six dimensional ratios were measured to describe craniofacial morphology. Results: The results obtained for angular measurements, in cephalometric analyses for Turner syndrome patients treated with growth hormone, revealed bimaxillary retrognathism. The linear measurements indicated longer mandibular ramus, anterior cranial base and both anterior and posterior facial heights. However, posterior cranial base and maxilla were in proportion to the anterior cranial base, when comparing dimensional ratios. Anterior cranial base, maxilla and mandibular ramus were larger in proportion to mandibular body; as well as posterior facial height was when compared to anterior facial height. Turner syndrome patients treated with growth

  5. A meta-analysis of math performance in Turner syndrome.

    Science.gov (United States)

    Baker, Joseph M; Reiss, Allan L

    2016-02-01

    Studies investigating the relationship between Turner syndrome and math learning disability have used a wide variation of tasks designed to test various aspects of mathematical competencies. Although these studies have revealed much about the math deficits common to Turner syndrome, their diversity makes comparisons between individual studies difficult. As a result, the consistency of outcomes among these diverse measures remains unknown. The overarching aim of this review is to provide a systematic meta-analysis of the differences in math and number performance between females with Turner syndrome and age-matched neurotypical peers. We provide a meta-analysis of behavioral performance in Turner syndrome relative to age-matched neurotypical populations on assessments of math and number aptitude. In total, 112 comparisons collected across 17 studies were included. Although 54% of all statistical comparisons in our analyses failed to reject the null hypothesis, our results indicate that meaningful group differences exist on all comparisons except those that do not require explicit calculation. Taken together, these results help elucidate our current understanding of math and number weaknesses in Turner syndrome, while highlighting specific topics that require further investigation. © 2015 Mac Keith Press.

  6. The analysis of the phenomenon of pilgrimage in the context of V.Turner theory

    OpenAIRE

    Liutikas, Darius

    2004-01-01

    The article presents the theory of Turners towards pilgrimage. The phenomenon of pilgrimage Turners analyzed using such elements from the previous works of V. Turner like communitas, liminality, the location of pilgrimage sites. The communitas in V. Turner theory is a relational quality of full unmediated communication, even communion between definite and determinate identities, which arises spontaneously in all kinds of groups, situations and circumstances. The achievement of communitas is t...

  7. James Joyce, music and memory

    OpenAIRE

    Brown, Katie

    2007-01-01

    This thesis, James Joyce, Music and Memory, explores the connection between music and Irish cultural memory in Joyce’s works from Chamber Music to the “pure music” of Finnegans Wake. Overall, it shows that Joyce’s ongoing desire to emulate musical forms must be seen in light of Joyce’s wish to come to terms with Irish cultural history, as these are the driving forces that bring about his changes in style. TARA (Trinity’s Access to Research Archive) has a robust takedown policy. Please cont...

  8. Aortopathies in Turner syndrome -- new strategies for evaluation and treatment.

    Science.gov (United States)

    Kriksciuniene, Ruta; Ostrauskas, Rytas; Zilaitiene, Birute

    2015-01-01

    Turner syndrome is a rare genetic disorder which impairs women's growth, reproductive function, cardiovascular development and other functions. This syndrome has been proposed as an independent risk marker for cardiovascular disease. Despite this, life-threatening cardiovascular outcomes affecting young women are dismissed because of incomplete follow up. During assessment due to their smaller stature, it should be noted that, although the ascending aorta diameter is normal in absolute terms, after indexation for body size, patients with Turner syndrome may have a dilated aorta.Based on recent guidelines and the latest studies, there is new evidence on the use of magnetic resonance imaging in diagnosing aortic lesions. New management possibilities of aortopathies have also been discussed. This approach should optimise medical care for women with Turner syndrome, but many areas of uncertainty still remain in the diagnosis and management of this syndrome, and new prospective studies are needed.

  9. Turner syndrome: transition from pediatrics to adulthood.

    Science.gov (United States)

    Rubin, Karen R

    2008-09-01

    To highlight the importance of an improved, seamless, and effective transition from pediatric to adult care, especially for medically complex conditions such as Turner syndrome (TS). The morbidities in adult patients with TS are reviewed, including features of the metabolic syndrome, congenital and acquired cardiovascular conditions, osteopenia and osteoporosis, autoimmune thyroid disease, and obesity, and psychobehavioral issues are addressed, in terms of promoting the development of independent self-care and autonomy in adolescent patients. An essential component of high-quality health care, transition for adolescents with TS needs to be reengineered as a staged process initiated during early-stage adolescence (about age 12 years), when exogenous estrogen therapy is begun in coordination with the final phase of growth hormone therapy. At this time, the focus of care shifts from the parent to the adolescent and from maximizing final adult height to inducing puberty with gradually increasing doses of estrogen. During this transition, the development of healthful and independent healthcare behaviors should be promoted to prepare patients with TS for the adult responsibility of self-care. During the final phase of transition, an adult care plan should be formulated in collaboration with the adolescent with TS and her providers of adult care to improve the likelihood that she will continue to be carefully monitored in a way that optimizes her adult health and longevity. The transitional period from pediatrics to adulthood is the ideal time for patients with TS to be made aware of their health history and health needs and of the evolving impact of TS into adulthood.

  10. Turner syndrome: searching for better outcomes

    Directory of Open Access Journals (Sweden)

    Adauto Versiani Ramos

    2008-01-01

    Full Text Available OBJECTIVES: To assess the results of growth hormone on the growth of girls with Turner Syndrome and identify relevant parameters to improve outcomes. METHODS: Growth velocity and final height were studied in a historical cohort of 41 girls, regularly followed up for hormone distribution at three referral centers. The influence of oxandrolone and of estrogens on the final height was analyzed. The girls (initial chronological age=8.9±3.4years; initial bone age=7.0±3.1years used 0.19 mg/kg/week of growth hormone for 4.0 ± 2.0 years. RESULTS: In the first year, growth velocity increased by 71.5% in 41 girls and 103.4% in those who reached final height (11 girls. The whole group had a gain in the height SDS of 0.8 ± 0.7 (p<0.01 and for those who reached a final height of 1.0 ± 0.8 (p<0.01. Final height (143.6 ±6.3 cm was 3.9 ± 5.3 cm higher than the predicted height, and the height gain occurred before estrogen therapy. Oxandrolone had no significant influence on height gain. The significant variables contributing to the final height were the duration of growth hormone used and its use prior to starting estrogens, the initial height SDS, and the growth velocity during the first year of treatment. CONCLUSIONS: We concluded that the use of growth hormone significantly increased the final height, which remained lower than the target. Results point to a need for starting growth hormone use as early as possible and to maximize treatment before estrogen replacement. It has been observed that even moderate doses of growth hormone may significantly increase early growth velocity.

  11. Internet, technology help Estonia's transformation / James Thorner

    Index Scriptorium Estoniae

    Thorner, James

    2008-01-01

    President Toomas Hendrik Ilvese esinemisest Lõuna-Florida Tampa ülikoolis. Riigipea rääkis Eesti edust ja e-riigi arengust. Artiklis on antud ka lühiülevaade president T. H. Ilvese elukäigust. Vabariigi President töövisiidil Ameerika Ühendriikides 17.-23.04.2008

  12. Recurrent Vocal Fold Paralysis and Parsonage-Turner Syndrome

    Directory of Open Access Journals (Sweden)

    Marcus Vinicius Pinto

    2013-01-01

    Full Text Available Background. Parsonage-Turner syndrome, or neuralgic amyotrophy (NA, is an acute brachial plexus neuritis that typically presents with unilateral shoulder pain and amyotrophy but also can affect other peripheral nerves, including the recurrent laryngeal nerve. Idiopathic vocal fold paralysis (VFP represents approximately 12% of the VFP cases and recurrence is extremely rare. Methods and Results. We report a man with isolated recurrent unilateral right VFP and a diagnosis of NA years before. Conclusions. We emphasize that shoulder pain and amyotrophy should be inquired in any patient suffering from inexplicable dysphonia, and Parsonage-Turner syndrome should be considered in the differential diagnosis of idiopathic VFP.

  13. Care of girls and women with Turner syndrome: a guideline of the Turner Syndrome Study Group.

    Science.gov (United States)

    Bondy, Carolyn A

    2007-01-01

    The objective of this work is to provide updated guidelines for the evaluation and treatment of girls and women with Turner syndrome (TS). The Turner Syndrome Consensus Study Group is a multidisciplinary panel of experts with relevant clinical and research experience with TS that met in Bethesda, Maryland, April 2006. The meeting was supported by the National Institute of Child Health and unrestricted educational grants from pharmaceutical companies. The study group used peer-reviewed published information to form its principal recommendations. Expert opinion was used where good evidence was lacking. The study group met for 3 d to discuss key issues. Breakout groups focused on genetic, cardiological, auxological, psychological, gynecological, and general medical concerns and drafted recommendations for presentation to the whole group. Draft reports were available for additional comment on the meeting web site. Synthesis of the section reports and final revisions were reviewed by e-mail and approved by whole-group consensus. We suggest that parents receiving a prenatal diagnosis of TS be advised of the broad phenotypic spectrum and the good quality of life observed in TS in recent years. We recommend that magnetic resonance angiography be used in addition to echocardiography to evaluate the cardiovascular system and suggest that patients with defined cardiovascular defects be cautioned in regard to pregnancy and certain types of exercise. We recommend that puberty should not be delayed to promote statural growth. We suggest a comprehensive educational evaluation in early childhood to identify potential attention-deficit or nonverbal learning disorders. We suggest that caregivers address the prospect of premature ovarian failure in an open and sensitive manner and emphasize the critical importance of estrogen treatment for feminization and for bone health during the adult years. All individuals with TS require continued monitoring of hearing and thyroid function

  14. Doctors, disease and James Joyce.

    Science.gov (United States)

    Kaplan, Robert M

    2008-08-01

    The Irish author James Joyce is regarded as the greatest modernist writer of his time. His works, notably The Dead, A Portrait of the Artist as a Young Man, Ulysses and Finnegans Wake--are intensely autobiographic including meticulous descriptions of illness and states of health--no surprise in view of Joyce's medical history and hypochondria. The Dead revolves around the tragic love of a doomed tubercular youth. Ulysses has a graphic description of Mary Joyce-s death, a funeral and a birth; Stephen Dedalus, the character based on Joyce, attends a drinking session with medical students at the lying-in hospital just as Joyce had done as a student; references to syphilis, alcoholism and other illnesses abound.

  15. Areeda-Turner in Two-Sided Markets

    NARCIS (Netherlands)

    Behringer, S.; Filistrucchi, L.

    2014-01-01

    Areeda and Turner (1975) were the first to argue that a price below marginal costs should be considered a sign of predation. Recognizing that marginal cost data were typically unavailable, the authors concluded that a price below average variable cost should be presumed unlawful. This socalled

  16. Nocturnal hypertension and impaired sympathovagal tone in Turner syndrome

    DEFF Research Database (Denmark)

    Gravholt, Claus Højbjerg; Hansen, Klavs Würgler; Erlandsen, Mogens

    2006-01-01

    OBJECTIVE: Increased blood pressure (BP), night: day BP ratio, and heart rate is seen in Turner syndrome (TS), and an increased risk of ischaemic heart disease and type 2 diabetes, as well as aortic dilatation and dissection. We hypothesized that altered heart rate variability is present in TS...

  17. Arousal Modulation in Females with Fragile X or Turner Syndrome

    Science.gov (United States)

    Roberts, Jane; Mazzocco, Michele M. M.; Murphy, Melissa M.; Hoehn-Saric, Rudolf

    2008-01-01

    The present study was carried out to examine physiological arousal modulation (heart activity and skin conductance), across baseline and cognitive tasks, in females with fragile X or Turner syndrome and a comparison group of females with neither syndrome. Relative to the comparison group, for whom a greater increase in skin conductance was…

  18. The Psychoeducational Characteristics of Children with Turner Syndrome.

    Science.gov (United States)

    Rovet, Joanne F.

    1993-01-01

    This study compared psychoeducational characteristics of 67 children (ages 6-16) with Turner syndrome and 27 nonaffected controls. Subjects exhibited selective impairments in visuospatial and memory areas; significant underachievement in arithmetic; poor social competence; and increased behavior problems, particularly in the area of hyperactivity.…

  19. [Turner syndrome in adulthood: the need for multidisciplinary care

    NARCIS (Netherlands)

    Freriks, K.; Beerendonk, C.C.M.; Timmermans, J.; Braat, D.D.M.; Hermus, A.R.M.M.; Timmers, H.J.L.M.

    2007-01-01

    Turner syndrome is the result of the complete or partial absence of one X-chromosome. As well as short stature and gonadal dysgenesis, a wide range of abnormalities which may not present themselves until adulthood, are seen in nearly every organ system. Adult women with this syndrome have a reduced

  20. Oxandrolone in growth hormone-treated girls with Turner syndrome

    NARCIS (Netherlands)

    Menke, Leonie Alexandra

    2010-01-01

    Turner syndrome (TS) is a disorder in females that is caused by the complete or partial absence of the second sex chromosome. The main characteristics are gonadal dysgenesis and short stature, with adult patients being on average 20 cm shorter than healthy women. Growth hormone (GH) therapy

  1. Growth hormone treatment modalities in girls with Turner syndrome

    NARCIS (Netherlands)

    A. van Teunenbroek (Arne)

    1996-01-01

    textabstractThe November 1938 issue of Endocrinology published a paper by the American physician Henry Turner which described seven females exhibiting certain physical features including sh0l1 stature, sexual infantilism, webbing of the neck, low posterior hairline, and increased carrying angle of

  2. Clinical care of adult Turner syndrome--new aspects

    DEFF Research Database (Denmark)

    Trolle, Christian; Mortensen, Kristian Havmand; Hjerrild, Britta E

    2012-01-01

    Turner syndrome (TS) is characterized by numerous medical challenges during adolescence and adulthood. Puberty has to be induced in most cases, and female sex hormone replacement therapy (HRT) should continue during adult years. These issues are normally dealt with by the paediatrician, but once...

  3. Cognitive Ability and Everyday Functioning in Women with Turner Syndrome.

    Science.gov (United States)

    Downey, Jennifer; And Others

    1991-01-01

    Comparison of 23 Turner syndrome (TUS) women with 23 women with constitutional short stature (CSS) found significant group differences for Performance and Full Scale IQ, largely due to TUS women's deficits in spatial and mathematical ability. TUS individuals had significantly lower educational and occupational attainment than CSS controls but did…

  4. Partial abnormal pulmonary venous return in Turner syndrome

    NARCIS (Netherlands)

    van Wassenaer, A. G.; Lubbers, L. J.; Losekoot, G.

    1988-01-01

    Three cases of partial anomalous pulmonary venous return, in one case combined with coarctation of the aorta and in another with discrete subaortic stenosis, are described in patients with Turner syndrome. In two of them the right and left superior pulmonary veins drained into the right superior

  5. Turner Syndrome: Neuroimaging Findings--Structural and Functional

    Science.gov (United States)

    Mullaney, Ronan; Murphy, Declan

    2009-01-01

    Neuroimaging studies of Turner syndrome can advance our understanding of the X chromosome in brain development, and the modulatory influence of endocrine factors. There is increasing evidence from neuroimaging studies that TX individuals have significant differences in the anatomy, function, and metabolism of a number of brain regions; including…

  6. A case report of acute myelogenous leukemia with Turner Syndrome.

    Science.gov (United States)

    Siddiqui, Nadir; Ali Baig, Mirza Faris; Khan, Bilal Ahmed

    2017-09-01

    Turner Syndrome was diagnosed in a 45 years old female, known case of Acute Myeloid Leukaemia (AML) with maturation, on Bone Marrow biopsy. She presented with blurred vision, vertigo, exertional dyspnoea and insomnia. She did not show the typical features of Turner syndrome, but her cytogenetis confirmed the diagnosis. Bone marrow biopsy showed diffuse infiltration of blast cells with cellularity around 80-85% and haematopoietic suppression. Karyotype analysis showed: 45 X, -X, t (8; 21) (q22; q22) [According to The International System for Human Cytogenetic Nomenclature (ISCN)]. Turner syndrome is caused by partial or complete absence of second X chromosome in a female. It is known to have Cardiovascular and Reproductive complications but it is rare to find haematologic malignancies. There are few similar reported cases of AML associated with Turner syndrome, therefore this is a unique case presented to Jinnah Postgraduate Medical Center, Karachi, Pakistan and further research should be done to identify more similar cases to explore the prognostic significance of this association.

  7. Osteoprotegerin in Turner syndrome - relationship to aortic diameter

    DEFF Research Database (Denmark)

    Trolle, Christian; Mortensen, Kristian Havmand; Bjerre, Mette

    2015-01-01

    BACKGROUND: Cardiovascular disease is a cardinal trait of Turner syndrome (TS), causing half of the 3-fold excess mortality. Since osteoprotegerin (OPG) is as a potential biomarker of cardiovascular disease, this cross-sectional and prospective study aimed at elucidating OPG levels in TS and its...

  8. Communication Problems in Turner Syndrome: A Sample Survey.

    Science.gov (United States)

    Van Borsel, John; Dhooge, Inge; Verhoye, Kristof; Derde, Kristel; Curfs, Leopold

    1999-01-01

    A survey of 128 females (ages 2-58) with Turner syndrome found almost one quarter were receiving or had received treatment for stuttering, articulation problems, and/or delayed language development, with the latter two disorders being checked most frequently. Only 4 or the 68 individuals receiving growth hormone treatment reported voice changes.…

  9. The value of abdominal angiography in Turner's syndrome

    International Nuclear Information System (INIS)

    Barreto, A.; Castaneda-Zuniga, W.R.; Velasquez, G.; Zollikofer, C.; Amplatz, K.

    1981-01-01

    In patients with Turner's syndrome, there is a relatively high incidence of gastrointestinal bleeding due to telangiectasias of the intestine. Despite the importance of preoperative diagnosis of the lesion in planning surgical treatment. The related angiographic findings have never been reported. We have studied one patient in whom the diagnosis was established by preoperative angiography. (orig.)

  10. Growth hormone positive effects on craniofacial complex in Turner syndrome.

    Science.gov (United States)

    Juloski, Jovana; Dumančić, Jelena; Šćepan, Ivana; Lauc, Tomislav; Milašin, Jelena; Kaić, Zvonimir; Dumić, Miroslav; Babić, Marko

    2016-11-01

    Turner syndrome occurs in phenotypic females with complete or partial absence of X chromosome. The leading symptom is short stature, while numerous but mild stigmata manifest in the craniofacial region. These patients are commonly treated with growth hormone to improve their final height. The aim of this study was to assess the influence of long-term growth hormone therapy on craniofacial morphology in Turner syndrome patients. In this cross-sectional study cephalometric analysis was performed on 13 lateral cephalograms of patients with 45,X karyotype and the average age of 17.3 years, who have received growth hormone for at least two years. The control group consisted of 13 Turner syndrome patients naive to growth hormone treatment, matched to study group by age and karyotype. Sixteen linear and angular measurements were obtained from standard lateral cephalograms. Standard deviation scores were calculated in order to evaluate influence of growth hormone therapy on craniofacial components. In Turner syndrome patients treated with growth hormone most of linear measurements were significantly larger compared to untreated patients. Growth hormone therapy mainly influenced posterior face height, mandibular ramus height, total mandibular length, anterior face height and maxillary length. While the increase in linear measurements was evident, angular measurements and facial height ratio did not show statistically significant difference. Acromegalic features were not found. Long-term growth hormone therapy has positive influence on craniofacial development in Turner syndrome patients, with the greatest impact on posterior facial height and mandibular ramus. However, it could not compensate X chromosome deficiency and normalize craniofacial features. Copyright © 2016 Elsevier Ltd. All rights reserved.

  11. Nailfold video capillaroscopy in Turner syndrome: a descriptive study Videocapilaroscopia na síndrome de Turner: estudo descritivo

    Directory of Open Access Journals (Sweden)

    Simone C. S. Coelho

    2007-12-01

    Full Text Available BACKGROUND: An increased prevalence of impaired glucose homeostasis is reported in Turner syndrome. Endothelial changes are described in patients with insulin resistance, which may be present in patients with Turner syndrome. Video capillaroscopy is a noninvasive examination that allows assessment of vascular patency. OBJECTIVE: To describe the nailfold morphology of capillaries in Turner syndrome using video capillaroscopy. METHODS: Subjects were studied in a temperature-controlled room, 20 days after no nailfold manipulations. The capillaries were visualized by microscope connected to a television and computer and were studied and classified according to these patterns: loop distribution, papilla, avascular fields, edema, form, capillary limbs, flow and hemorrhagic extravasation. RESULTS: Fifty patients aged between 6-37 years with Turner syndrome were studied. Eighteen (36% patients had normal capillaroscopy with hairpin pattern in loop distribution and no avascular fields. The papilla was ratified in 13 (26% and enlarged in four (8%. Edema occurred in 22 (44% cases. There were three (6% macrocapillaries and three (6% were branched. Tortuosity was present in five (10% patients. Hemorrhagic extravasation occurred in one (2% case. Flow was fast in seven (14%, granulous in five (10% and slow in six (12%. CONCLUSION: There was a high prevalence of nailfold capillaroscopy changes in Turner syndrome and the most prevalent alterations found were edema and ratified papilla.CONTEXTO: Estudos evidenciam distúrbios no metabolismo da glicose na síndrome de Turner. As alterações no endotélio estão descritas em pacientes com resistência insulínica, que pode ocorrer em pacientes com síndrome de Turner, e o estudo dos capilares pela videocapilaroscopia é um exame não-invasivo que permite avaliação da permeabilidade vascular. OBJETIVO: Descrever a morfologia dos capilares na síndrome de Turner usando a videocapilaroscopia. MÉTODO: As pacientes

  12. Mixed gonadal dysgenesis with Turner`s phenotype and mosaic karyotype

    Energy Technology Data Exchange (ETDEWEB)

    Tarim, O.; Lieber, E. [Maimonides Medical Center, Brooklyn, NY (United States)]|[Interfaith Medical Center, Brooklyn, NY (United States)

    1994-09-01

    A 14 8/12-year-old white female patient was evaluated for short stature and amenorrhea. The past and family history were unremarkable. The physical examination revealed a short girl (131.4 cm; height age: 9) with a weight of 39.5kg (weight age: 11-6/12). The blood pressure was in the normal range in all four extremities and the peripheral pulses were positive. She had stigmata of Turner`s syndrome including short neck and slight webbing, cubitus valgus, and shield chest. There was no heart murmur. The only pubertal sign was pubic hair of Tanner stage II. The chromosome study showed a mosaic pattern. A total of 67 cultured lymphocytes from peripheral blood were analyzed which revealed 13 cells with 45,XO; 14 with 46,XY,r(Y); 39 with 46,XY. The patient had a normal vagina and hypoplastic uterus by sonogram. The diagnosis of mixed gonadal dysgenesis was confirmed by exploratory laparotomy and bilateral gonadectomy. The histologic examination of the gonads showed a testicle on the left and a streak ovary on right. The karyotype of the testicular tissue revealed 45,XO in 32 out of 40 and 46,XY in the remaining 8 cells. Pre-operative hormonal evaluation showed elevated gonadotropin levels of FSH 73.5 and LH 12.5 mIU/ml, low estradiol level of 5 pg/ml, normal testosterone level of 18 and DHEA-S of 181 mcg/dl, and normal thyroid function test with T4 of 6 mcg/dl and TSH of 4.2 mIU/ml. Her bone age was 12 years. The patient was also found to have subnormal growth hormone (GH) secretion by overnight GH study (1.55 ng/ml), clonidine stimulation test (7.3ng/ml), and insulin stimulation test (9.2 ng/ml). She responded well to human synthetic GH treatment with a growth velocity of 11.5 cm in two years. Replacement of sex hormones will be initiated after the completion of growth.

  13. James Stirling Regionalismo y modernidad

    Directory of Open Access Journals (Sweden)

    Javier de Esteban Garbayo

    2015-05-01

    Full Text Available ResumenEn los años treinta, la arquitectura moderna se había introducido en los más remotos lugares del mundo enfrentándose con la infinita idiosincrasia de lo local, y al mismo tiempo, el arquitecto, sintiendo las limitaciones de su estilo e intentando ampliar su vocabulario, se embarcó en un proceso de difusión, asimilación y personalización.La idea de una renovada época después de la posguerra británica, sería compartida por una joven generación de arquitectos con el fin de encontrar una nueva forma de modernidad.Si en sus proyectos domésticos de mediados de los cincuenta, James Stirling partió de una aproximación al regionalismo y a la 'tradición funcional' con el fin de renovar el lenguaje moderno, no abandonaría la idea 'programática' inicial de entender la arquitectura desde una consistencia formal y una lógica que combinaba 'una síntesis común del pasado reciente y una certera actitud hacia el futuro'. AbstractThirties, modern architecture had percolated into remote corners of the world, encountering the infinite idiosyncrasies of locality, and, at the same time, Architects, feelings the limitations of their style and becoming intent upon extending their vocabulary, embarked upon a process of diffusion, assimilation and personalitation.The idea of a renewed period after British postwar, was shared for a new young architects generationto find a new way of modernity.While in his mid fifties housing projects, James Stirling approached to 'regionalism' and 'the functional tradition' to renew the modern language, he wouldn't reject the programmatic idea to understand architecture from a logic and formal consistency that combine 'a common synthesis of the recent past and a certain attitude toward the future'.

  14. Math Achievement, Numerical Processing, and Executive Functions in Girls with Turner Syndrome: Do Girls with Turner Syndrome Have Math Learning Disability?

    Science.gov (United States)

    Mazzocco, Michele M. M.; Hanich, Laurie B.

    2010-01-01

    Turner syndrome is a common genetic disorder associated with select deficits in executive functions, working memory and mathematics. In Study 1, we examined growth trajectories of skills in these areas, from grades 1 to 6, among girls with or without Turner syndrome. Rates of growth and performance levels at 6th grade, on an untimed math…

  15. Nationalism in James Joyce's Ulysses

    Directory of Open Access Journals (Sweden)

    Bahee Hadaegh

    2016-03-01

    Full Text Available In the present article, the role of nationalism and postcolonialism in James Joyce's Ulysses is explored. The novel is used to reveal the political and postcolonial layers of Joyce's work and represent how colonization works through politics. This helps the readers to realize more about political Joyce and to apprehend his political views as a fresh reading of his oeuvre. The significance of this article is to depict how an author from a colonized society is influenced by the colonizing forces and cultural invasions and to scrutinize the very psychology of a colonized nation. This task is done through Attridge and Howes's methodology as the theoretical framework containing key roles in analyzing the main discussion. Through analyzing Ulysses, this article clearly shows that Joyce was a part of nationalistic movements such as the Irish Revival; however he had major conflicts with some individuals and movements that claimed to be nationalists. Therefore, Joyce is concluded to be a 'semicolonial' writer who has his own specific mode of nationalism.

  16. A chat with James Watson

    CERN Multimedia

    2011-01-01

    On 6 September, Nobel laureate James Watson paid a visit to CERN. In this interview, he shares his views with CERN's Paola Catapano.      var flash_video_player=get_video_player_path(); insert_player_for_external('Video/Public/Movies/2011/CERN-MOVIE-2011-144/CERN-MOVIE-2011-144-0753-kbps-640x360-25-fps-audio-64-kbps-44-kHz-stereo', 'mms://mediastream.cern.ch/MediaArchive/Video/Public/Movies/2011/CERN-MOVIE-2011-144/CERN-MOVIE-2011-144-0480-kbps-512x288-25-fps-audio-128-kbps-48-kHz-stereo.wmv', 'false', 480, 360, 'https://mediastream.cern.ch/MediaArchive/Video/Public/Movies/2011/CERN-MOVIE-2011-144/CERN-MOVIE-2011-144-posterframe-640x360-at-10-percent.jpg', '1384418', true, 'Video/Public/Movies/2011/CERN-MOVIE-2011-144/CERN-MOVIE-2011-144-0600-kbps-maxH-360-25-fps-audio-128-kbps-48-kHz-stereo.mp4');

  17. Small carpal bone surface area, a characteristic of Turner's syndrome

    International Nuclear Information System (INIS)

    Cleveland, R.H.; Done, S.; Correia, J.A.; Crawford, J.D.; Kushner, D.C.; Herman, T.E.

    1985-01-01

    An abnormality which has received little attention but may be easily recognized on radiographs of the hand of patients with Turner's syndrome is described. Eleven of thirty-one patients (35.5%) with Turner's syndrome were shown on radiographs of the hand to have a visually detectable smallness of the bone surface area of the carpus when compared to the area of the second through fifth metacarpals. Values for the ''C/M'' ratio (the area of the carpals divided by the area of the second through fifth metacarpals) were calculated for films of 31 individuals with gonadal dysgenesis and compared with those from bone age-matched films of seventy-six individuals with normal development of the hand and wrist. A consistent difference with minimal overlap was documented. (orig./WL)

  18. Primary retroperitoneal teratoma and crossed fused renal ectopia with turner's syndrome -a case report-

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Yun Jung; Hong, Ki Ung [St. Francisco General Hospital, New York (United States)

    1988-02-15

    In 1938, Turner described a clinical entity in phenotype females characterized by sexual infantilism, congenital webbed neck and cubitus valgus. After then, the occurrence of renal anomalies in patients with Turner's syndrome has been recognized. Associated crossed fused renal ectopia is very rare. Primary retroperitoneal teratoma is also rare and usually during childhood. The authors report a case of primary retroperitoneal teratoma and crossed fused renal ectopia with Turner's syndrome (mosaic type). The clinical, pathological and radiographical findings are reviewed.

  19. Primary retroperitoneal teratoma and crossed fused renal ectopia with turner's syndrome -a case report-

    International Nuclear Information System (INIS)

    Kim, Yun Jung; Hong, Ki Ung

    1988-01-01

    In 1938, Turner described a clinical entity in phenotype females characterized by sexual infantilism, congenital webbed neck and cubitus valgus. After then, the occurrence of renal anomalies in patients with Turner's syndrome has been recognized. Associated crossed fused renal ectopia is very rare. Primary retroperitoneal teratoma is also rare and usually during childhood. The authors report a case of primary retroperitoneal teratoma and crossed fused renal ectopia with Turner's syndrome (mosaic type). The clinical, pathological and radiographical findings are reviewed

  20. Identification of Y-Chromosome Sequences in Turner Syndrome.

    Science.gov (United States)

    Silva-Grecco, Roseane Lopes da; Trovó-Marqui, Alessandra Bernadete; Sousa, Tiago Alves de; Croce, Lilian Da; Balarin, Marly Aparecida Spadotto

    2016-05-01

    To investigate the presence of Y-chromosome sequences and determine their frequency in patients with Turner syndrome. The study included 23 patients with Turner syndrome from Brazil, who gave written informed consent for participating in the study. Cytogenetic analyses were performed in peripheral blood lymphocytes, with 100 metaphases per patient. Genomic DNA was also extracted from peripheral blood lymphocytes, and gene sequences DYZ1, DYZ3, ZFY and SRY were amplified by Polymerase Chain Reaction. The cytogenetic analysis showed a 45,X karyotype in 9 patients (39.2 %) and a mosaic pattern in 14 (60.8 %). In 8.7 % (2 out of 23) of the patients, Y-chromosome sequences were found. This prevalence is very similar to those reported previously. The initial karyotype analysis of these patients did not reveal Y-chromosome material, but they were found positive for Y-specific sequences in the lymphocyte DNA analysis. The PCR technique showed that 2 (8.7 %) of the patients with Turner syndrome had Y-chromosome sequences, both presenting marker chromosomes on cytogenetic analysis.

  1. Laparoscopic Removal of Streak Gonads in Turner Syndrome.

    Science.gov (United States)

    Mandelberger, Adrienne; Mathews, Shyama; Andikyan, Vaagn; Chuang, Linus

    To demonstrate the skills necessary for complete resection of bilateral streak gonads in Turner syndrome. Video case presentation with narration highlighting the key techniques used. The video was deemed exempt from formal review by our institutional review board. Turner syndrome is a form of gonadal dysgenesis that affects 1 in 2500 live births. Patients often have streak gonads and may present with primary amenorrhea or premature ovarian failure. Patients with a mosaic karyotype that includes a Y chromosome are at increased risk for gonadoblastoma and subsequent transformation into malignancy. Gonadectomy is recommended for these patients, typically at adolescence. Streak gonads can be difficult to identify, and tissue margins are often in close proximity to critical retroperitoneal structures. Resection can be technically challenging and requires a thorough understanding of retroperitoneal anatomy and precise dissection techniques to ensure complete removal. Laparoscopic approach to bilateral salpingo-oophorectomy of streak gonads. Retroperitoneal dissection and ureterolysis are performed, with the aid of the Ethicon Harmonic Ace, to ensure complete gonadectomy. Careful and complete resection of gonadal tissue in the hands of a skilled laparoscopic surgeon is key for effective cancer risk reduction surgery in Turner syndrome mosaics. Copyright © 2016 AAGL. Published by Elsevier Inc. All rights reserved.

  2. Pseudohypoparathyroidism with Hashimoto's thyroiditis and Turner syndrome: a case report.

    Science.gov (United States)

    Zeng, Wen-Heng; Xu, Jiao-Jun; Jia, Min-Yue; Ren, Yue-Zhong

    2014-10-01

    To report the case of an individual with PHP, Turner syndrome and Hashimoto's thyroiditis. A 16-year-old girl was referred to our hospital with chief complaint of short stature. She presented with round chubby facies, short neck, obesity and short stature. Radiography indicated short metatarsals and metacarpals, which mainly affected the second, third and fourth digits. Biochemistry revealed hyperphosphatemia, increased serum concentrations of parathyroid hormone and thyroid stimulating hormone, elevated levels of follicular-stimulating hormone and prolactin, and increased thyroid peroxidase antibody and thyroglobulin antibody. Radiographic examination revealed delayed bone age and pelvic ultrasonography demonstrated an immature uterus. Karyotype analysis showed 46,X,i(Xq10), while molecular analysis revealed a same sense mutation in exon 5 of GNAS (ATC → ATT, Ile).The specific diagnosis was made of Turner syndrome in the presence of Hashimoto's thyroiditis and PHP. She was treated with calcium supplementation, calcitriol and thyroxine. This is the first case report to describe a combination of Turner syndrome with these other clinical entities, and their co-existence should be considered and further investigated.

  3. Nonclassic congenital adrenal hyperplasia misdiagnosed as Turner syndrome

    Directory of Open Access Journals (Sweden)

    Vineet V Mishra

    2015-01-01

    Full Text Available We present a patient with nonclassic congenital adrenal hyperplasia (NCAH misdiagnosed as mosaic Turner syndrome. She presented with complaints of primary infertility. Short stature, the presence of facial hair and hoarse voice was also noted. She had primary amenorrhea and was advised for karyotype at 16 years of age, which was reported as 45, X[20]/46, XX[80], stating her as a case of mosaic Turner syndrome. Clitoroplasty was done at 21 years of age for clitoromegaly, which was noticed during puberty. The diagnosis of mosaic Turner could not explain the virilization. Therefore, we repeated the karyotype, which revealed 46, XX in more than 100 metaphases and was sufficient to exclude mosaicism. Furthermore, the endocrinological evaluation revealed high testosterone level with a normal 17 alpha-hydroxyprogesterone (17-OHP. The presence of pubertal onset virilization with a karyotype of 46, XX and raised testosterone level with normal 17-OHP level, raised the suspicion of NCAH for which adrenocorticotropic hormone stimulation test was done which confirmed the diagnosis of NCAH.

  4. Features of Turner syndrome among a group of Cameroonian patients.

    Science.gov (United States)

    Wonkam, Ambroise; Veigne, Sandra W; Abass, Ali; Ngo Um, Suzanne; Noubiap, Jean Jacques N; Mbanya, Jean-Claude; Sobngwi, Eugene

    2015-06-01

    To describe the features of Turner syndrome among a group of Cameroonian patients. A descriptive cross-sectional study was conducted among patients with amenorrhea and/or short stature who attended the genetic unit of Yaoundé Gynecology, Obstetrics and Pediatric Hospital (Yaoundé, Cameroon) for a specialist consultation between July 1, 2007, and December 31, 2008. Sociodemographic, clinical, and cytogenetic data were collected. Turner syndrome was confirmed among 11 of the 14 participants (seven had monosomy of the X chromosome; four had mosaicism involving a structural abnormality of the second X chromosome). The mean age at diagnosis was 18.4±2.8years. The reasons for consultation were delayed puberty (n=10) and short stature (n=1). Nine patients had a short neck, nine had a forearm carrying-angle deformity, eight had a low hairline, and two had a webbed neck. Abdominal ultrasonography identified a horseshoe kidney in two patients and a rudimentary uterus in nine patients. None of the patients displayed cardiac abnormalities. Hypergonadotropic hypogonadism was reported among five patients. Eight patients did not receive hormonal treatment owing to advanced bone age or economic reasons. Late diagnosis and variable phenotypic expression were key features of Cameroonian patients with Turner syndrome. Copyright © 2015 International Federation of Gynecology and Obstetrics. Published by Elsevier Ireland Ltd. All rights reserved.

  5. Síndrome de Turner y tiroiditis autoinmune Turner´s syndrome and autoimmune thyroiditis

    Directory of Open Access Journals (Sweden)

    Tamara Fernández Teruel

    2003-12-01

    Full Text Available Paciente de 13 años de edad, del sexo femenino, quien presenta los siguientes antecedentes patológicos familiares: madre que padece de hipertensión arterial, padre con úlcera péptica; sin lazos de consanguinidad entre los progenitores. Antecedentes prenatales: gestación a término de 38 semanas que corresponde al segundo embarazo, signo de menos y escaso incremento de la altura uterina. Motivo de consulta: baja talla. Al examen físico de la paciente se encuentra piel seca y áspera, panículo adiposo aumentado, cubitus valgus, teletelia, implantación baja del cabello y en tridente, así como acortamiento del cuarto metacarpiano. Glándula tiroides: aumentada de volumen ± 25 gramos, superficie lisa, no dolorosa, no se precisan nódulos. Maniobra de Chvostek negativa, no vello sexual, genitales externos de aspecto femenino y estadio I de desarrollo de mamas (Tanner I. Estudios complementarios realizados: TSH 32,6 mU/L, anticuerpos antimicrosomales positivo, anticuerpos antiislotes pancreáticos positivo, cromatina oral 12 %, FSH 68,8 UI/L (elevado, LH 12,5 UI/L (elevado, estrógenos 18 pmol/L. (disminuido, prolactina 72 mU/L (disminuido. En resumen, se trata de una paciente con diagnóstico de síndrome de Turner y enfermedad autoinmune del tiroides, que cursa con hipotiroidismo clínico.A 13-years-old female patient, who presents with the following family pathological history: mother with blood hypertension, father with peptic ulcer; no blood relationship between parents. Prenatal history: term pregnancy of 38 weeks of a second pregnancy, minus sign and little increase of uterine height. Reason for appointment: low height. On physical exam, the patient´s skin was dry and rough, augmented adipose pannicle, cubitus valgus, telethelia, low implantation of hair in trident position as well as shortening of fourth metacarpal. Thyroidal gland: increased volume of ± 25 grams, smooth surface, no pain, no nodules were detected. Negative Chvostek

  6. St. James marine terminal facility description

    Energy Technology Data Exchange (ETDEWEB)

    1993-10-01

    The US Department of Energy (DOE) currently owns and operates a marine terminal on the west bank of the Mississippi River at St. James, Louisiana. The St. James facility was constructed by the Department to provide marine services associated with the fill and drawdown of the Strategic Petroleum Reserve (SPR) crude oil storage facilities located at Bayou Choctaw and Weeks Island, Louisiana. Although strategic to the mission of the SPR in the event of a national emergency, the St. James terminal is situated such that it has a high potential to also serve the commercial industry`s needs for crude oil terminalling and storage. The St. James terminal is located approximately 45 miles west of New Orleans and 30 miles southeast of Baton Rouge, and approximately 160 miles upstream from the mouth of the Mississippi River. Construction of the St. James terminal was initiated in 1978 and was completed in 1980. Since then, the terminal has received and transferred over 125 million barrels of crude oil to the SPR sites for storage. For crude oil distribution, the St. James terminal was connected to the neighboring LOCAP terminal by a 0.1 mile 36-inch pipeline in 1981 and to the Capline terminal by a 0.5 mile 30-inch pipeline in 1988. The terminal also has a 30-inch pipeline connection to the Koch oil terminal which was used for initial fill purposes; however, this pipeline has been disconnected and is currently inactive. A complete description of the St. James terminal facilities, operational capabilities, operational certifications, and future Government requirements are presented in Sections 2, 3, 4, and 5 respectively.

  7. Poor and Rich in James: A Relevance Theory Approach to James's Use of the Old Testament

    Science.gov (United States)

    Morales, Nelson R.

    2015-01-01

    The epistle of James was for years a forgotten book in academic circles. In recent decades, however, a renewed focus on early Judaism has generated interest in looking at James with new eyes. Poverty and wealth in the epistle continues to be a point of interest. Other topics, however, are still to be explored. One of these topics is the rhetorical…

  8. Space perception and William James's metaphysical presuppositions.

    Science.gov (United States)

    Farrell, Martin J

    2011-05-01

    William James's overtly philosophical work may be more continuous with his psychological work than is sometimes thought. His Essays in Radical Empiricism can be understood as an explicit statement of the absolute presupposition that formed the basis of Jamesian psychology: that direct experience is primary and has to be taken at face value. An examination of James's theory of space perception suggests that, even in his early work, he presupposed the primacy of direct experience, and that later changes in his account of space perception can be understood as making his view more consistent with this presupposition. In his earlier view of space perception, James argued that sensations were directly experienced as spatial, though he accepted that spatial relations between sensations may be constructed by higher order thought. In his later view, however, James argued that spatial relations were just as directly experienced as sensations. The work of T. H. Green may have prompted James to recognize the full consequence of his ideas and to realize that taking experience at face value required that spatial relations be thought of as intrinsic to experience rather than the result of intellectual construction.

  9. William James, Gustav Fechner, and Early Psychophysics

    Directory of Open Access Journals (Sweden)

    Stephanie L. Hawkins

    2011-10-01

    Full Text Available American psychologist and philosopher William James devoted the entirety of his career to exploring the nature of volition, as expressed by such phenomena as will, attention, and belief. As part of that endeavor, James's unorthodox scientific pursuits, from his experiments with nitrous oxide and hallucinogenic drugs to his investigation of spiritualist mediums, represent his attempt to address the "hard problems" of consciousness for which his training in brain physiology and experimental psychology could not entirely account. As a student, James's reading in chemistry and physics had sparked his interest in the concepts of energy and force, terms that he later deployed in his writing about consciousness and in his arguments against philosophical monism and scientific materialism, as he developed his radically empiricist ideas privileging discontinuity and plurality. Despite James's long campaign against scientific materialism, he was, however, convinced of the existence of a naturalistic explanation for the more "wayward and fitful" aspects of mind, including transcendent experiences associated with hysteria, genius, and religious ecstasy. In this paper, I examine aspects of James's thought that are still important for contemporary debates in psychology and neuroscience: his "transmission theory" of consciousness, his ideas on the "knowing of things together," and, finally, the related concept of "the compounding of consciousness," which postulates the theoretical possibility for individual entities within a conscious system of thought to "know" the thoughts of others within the system. Taken together, these ideas suggest that James, in spite of, or perhaps because of, his forays into metaphysics, was working toward a naturalistic understanding of consciousness, what I will term a "distributive model," based on his understanding of consciousness as an "awareness" that interacts dynamically within, and in relation to, its environment.

  10. Prevalence of pilomatricoma in Turner syndrome: findings from a multicenter study.

    Science.gov (United States)

    Handler, Marc Z; Derrick, Kristina M; Lutz, Richard E; Morrell, Dean S; Davenport, Marsha L; Armstrong, April W

    2013-05-01

    The absence of data on the prevalence of pilomatricoma among patients with Turner syndrome served as the catalyst for this multicenter investigation. To ascertain the prevalence of pilomatricoma among patients with Turner syndrome and to determine any association between the development of pilomatricomas and the use of exogenous hormones in patients with Turner syndrome. A retrospective medical record review from January 1, 2000, through January 1, 2010, was performed of all patients with Turner syndrome. Data on pilomatricomas and the use of hormone therapy were collected. University of California-Davis Medical Center, University of Nebraska Medical Center, and The University of North Carolina at Chapel Hill. Patients with a diagnosis of Turner syndrome. Prevalence of concomitant pilomatricoma and diagnosis of Turner syndrome. Secondary outcome measures included the use of the exogenous hormones estrogen or recombinant human growth hormone (rhGH). In total, 311 patients with Turner syndrome were identified from these 3 institutions. Among them, 8 patients (2.6%) were diagnosed as having pilomatricomas. Before the development of pilomatricomas, 5 patients had been treated with rhGH but not estrogen, 1 patient had received estrogen but not rhGH, and 2 patients did not receive either therapy. Although the prevalence of pilomatricoma among the general population is unknown, this study demonstrates a high prevalence (2.6%) of pilomatricomas among patients with Turner syndrome. No apparent relationship was noted among our patients or in the literature between the use of rhGH and the development of pilomatricomas.

  11. Delayed ß-cell response and glucose intolerance in young women with Turner syndrome

    DEFF Research Database (Denmark)

    Hjerrild, Britta Eilersen; Holst, Jens Juul; Juhl, Claus

    2011-01-01

    BACKGROUND: To investigate glucose homeostasis in detail in Turner syndrome (TS), where impaired glucose tolerance (IGT) and type 2 diabetes are frequent. METHODS: Cross sectional study of women with Turner syndrome (TS)(n = 13) and age and body mass index matched controls (C) (n = 13), evaluated...

  12. Improved Spatial Ability Correlated with Left Hemisphere Dysfunction in Turner's Syndrome. Implications for Mechanism.

    Science.gov (United States)

    Rovet, Joanne F.

    This study contrasts the performance of a 17-year-old female subject with Turner's syndrome before and after developing left temporal lobe seizures, as a means of identifying the mechanism responsible for the Turner's syndrome spatial impairment. The results revealed a deficit in spatial processing before onset of the seizure disorder. Results…

  13. Amniotic fluid RNA gene expression profiling provides insights into the phenotype of Turner syndrome.

    Science.gov (United States)

    Massingham, Lauren J; Johnson, Kirby L; Scholl, Thomas M; Slonim, Donna K; Wick, Heather C; Bianchi, Diana W

    2014-09-01

    Turner syndrome is a sex chromosome aneuploidy with characteristic malformations. Amniotic fluid, a complex biological material, could contribute to the understanding of Turner syndrome pathogenesis. In this pilot study, global gene expression analysis of cell-free RNA in amniotic fluid supernatant was utilized to identify specific genes/organ systems that may play a role in Turner syndrome pathophysiology. Cell-free RNA from amniotic fluid of five mid-trimester Turner syndrome fetuses and five euploid female fetuses matched for gestational age was extracted, amplified, and hybridized onto Affymetrix(®) U133 Plus 2.0 arrays. Significantly differentially regulated genes were identified using paired t tests. Biological interpretation was performed using Ingenuity Pathway Analysis and BioGPS gene expression atlas. There were 470 statistically significantly differentially expressed genes identified. They were widely distributed across the genome. XIST was significantly down-regulated (p Turner syndrome transcriptome from other aneuploidies we previously studied. Manual curation of the differentially expressed gene list identified genes of possible pathologic significance, including NFATC3, IGFBP5, and LDLR. Transcriptomic differences in the amniotic fluid of Turner syndrome fetuses are due to genome-wide dysregulation. The hematologic/immune system differences may play a role in early-onset autoimmune dysfunction. Other genes identified with possible pathologic significance are associated with cardiac and skeletal systems, which are known to be affected in females with Turner syndrome. The discovery-driven approach described here may be useful in elucidating novel mechanisms of disease in Turner syndrome.

  14. Two male patients with ring Y : definition of an interval in Yq contributing to Turner syndrome

    NARCIS (Netherlands)

    Tzancheva, M; Kaneva, R; Kumanov, P; Williams, G; Tyler-Smith, C

    Turner syndrome is thought to result from the haploinsufficiency of genes on the sex chromosomes, but these genes have not been identified yet. We describe two males with deleted ring Y chromosomes, one (TS) with full Turner syndrome and one (DM) without. TS has short stature, skeletal anomalies,

  15. Mathematical Learning Disability in Girls with Turner Syndrome: A Challenge to Defining MLD and Its Subtypes

    Science.gov (United States)

    Mazzocco, Michele M. M.

    2009-01-01

    Turner syndrome is a common disorder with a prevalence of 1:2,500 live female births. Although not associated with mental retardation, there is an increased risk of learning difficulties in this population. In particular, mathematical learning difficulties among girls with Turner syndrome are prevalent, significant, and persistent. As such, the…

  16. In conversation with: Professor Richard James

    Directory of Open Access Journals (Sweden)

    John Clarke

    2014-03-01

    Full Text Available In 2011, Richard James wrote in the Foreword to Nelson, Clarke, Kift, and Creagh’s (2012 monograph on Australasian literature on the First Year Experience that:The trend towards universal participation will usher in dramatic changes in the character of the first year in higher education. … (p. iiiIn an interview at the University of Melbourne, Australia in July 2013 between Richard James and John Clarke, Co-editor of the International Journal of the First Year in Higher Education, these and related issues were explored.  The interview picks up where the Foreword left off:  focussing on universal participation.

  17. FSH, LH, inhibin B and estradiol levels in Turner syndrome depend on age and karyotype: longitudinal study of 70 Turner girls with or without spontaneous puberty

    DEFF Research Database (Denmark)

    Hagen, Casper P; Main, Katharina M; Kjaergaard, Susanne

    2010-01-01

    Ovarian function in Turner syndrome (TS) patients depends on the specific karyotype. This retrospective clinical study evaluates the pituitary-gonadal axis during infancy, childhood and adolescence in TS patients according to karyotype and ovarian function....

  18. Concurrent Van der Woude syndrome and Turner syndrome: A case report.

    Science.gov (United States)

    Los, Evan; Baines, Hayley; Guttmann-Bauman, Ines

    2017-01-01

    Most cases of Van der Woude syndrome are caused by a mutation to interferon regulatory factor 6 on chromosome 1. Turner syndrome is caused by complete or partial absence of the second sex chromosome in girls. We describe a unique case of the two syndromes occurring concurrently though apparently independently in a girl with Van der Woude syndrome diagnosed at birth and Turner syndrome at 14 years 9 months. Short stature was initially misattributed to Van der Woude syndrome and pituitary insufficiency associated with clefts before correctly diagnosing Turner syndrome. We discuss the prevalence of delayed diagnosis of Turner syndrome, the rarity of reports of concurrent autosomal chromosome mutation and sex chromosome deletion, as well as the need to consider the diagnosis of Turner syndrome in all girls with short stature regardless of prior medical history.

  19. A Rare Case of Acute Coronary Syndrome in a Patient With Turner Syndrome.

    Science.gov (United States)

    Kemaloglu, Tugba; Ozer, Nihat; Fikri Yapici, Mehmet

    2016-05-01

    In Turner syndrome, cardiovascular complications are the most important causes of early mortality. Congenital cardiovascular abnormalities are found in approximately one third of Turner syndrome patients. Developments in diagnosis and treatment have decreased the rate of mortality related to these abnormalities. In recent years, many papers have mentioned that coronary artery disease developing at early ages in patients with Turner syndrome causes sudden deaths. The patient, a 27-year-old female was admitted to the emergency room with chest pain at rest. She was diagnosed with Turner Syndrome in her teenage years due to amenorrhea. Patients with ECG changes and cardiac enzyme elevations were treated with acute coronary syndrome. The young woman with Turner Syndrome have several risk factors for early Coronary Artery Disease development. In such cases, dramatic results like sudden death or heart attack at an early age may occur in cases of insufficient follow-up and treatment.

  20. FSH, LH, inhibin B and estradiol levels in Turner syndrome depend on age and karyotype: longitudinal study of 70 Turner girls with or without spontaneous puberty

    DEFF Research Database (Denmark)

    Hagen, Casper P; Main, Katharina M; Kjaergaard, Susanne

    2010-01-01

    Ovarian function in Turner syndrome (TS) patients depends on the specific karyotype. This retrospective clinical study evaluates the pituitary-gonadal axis during infancy, childhood and adolescence in TS patients according to karyotype and ovarian function.......Ovarian function in Turner syndrome (TS) patients depends on the specific karyotype. This retrospective clinical study evaluates the pituitary-gonadal axis during infancy, childhood and adolescence in TS patients according to karyotype and ovarian function....

  1. Ovarion mucinous cystadenoma in a female a with Turner syndrome

    International Nuclear Information System (INIS)

    Sait, Khalid H.; Alkhattabi, Maysoon A.; Alqahtani, Abulmohen O.; Alkushi, Mohammad H.

    2004-01-01

    The development of an epithelial tumor, especially mucin ous type, in a female with a streak gonad is rare and not fully understood. We report a case of a 19-year-old; a single female known to have Turner syndrome presented with an increased abdominal girth and was found to have a huge pelvic and abdominal mass. Ultrasound and magnetic resonance imaging revealed a huge cystic ovarian mass with no ascites. Laparotomy and right oophorectomy were performed for the ovarian mass. Histology revealed a large mucin ous cyst adenoma. Further study of these tumors may help to edtacal the underlying cause and pathogenesis. (author)

  2. Improving the Efficient of Ernie Turner Center. Final Progress Report

    Energy Technology Data Exchange (ETDEWEB)

    Fredeen, Amy

    2011-03-21

    The objective of this project was to complete the specifications and drawings for a variable speed kitchen exhaust system and the boiler heating system which when implemented will improve the heating efficiency of the building. The design work was focused in two key areas: kitchen ventilation and heating for the Ernie Turner Center building (ETC). RSA completed design work and issued a set of 100% drawings. RSA also worked with a cost estimator to put together a detailed cost estimate for the project. The design components are summarized.

  3. Romanticism and Impressionism. A path between Turner and Monet

    Directory of Open Access Journals (Sweden)

    Giampiero Moretti

    2016-07-01

    Full Text Available The purpose of this paper is to further examine the aesthetical and theoretical relationship between the Romantic movement and French Impressionism, including its further development into pointillism and/or post-impressionism. The examination focuses on the German Romantic movement (from a theoretical viewpoint as well as on the English Romantic movement (from a pictorial perspective: mainly, the Turner-Ruskin relationship. This hermeneutical journey takes place both through the analysis of specific works by main figures belonging to these art movements and through the examination of some of the theoretical concepts associated with their aesthetical doctrines, which have been referenced to either explicitly or implicitly.

  4. James Madison University Survey of Faculty Activities.

    Science.gov (United States)

    James Madison Univ., Harrisonburg, VA.

    The activities of the faculty at James Madison University during the fall term of the academic year 1978-79 are described. Full-time instructional faculty, part-time faculty involved in resident instruction, administrators and classified employees who taught at least one course, and graduate teaching assistants were surveyed. Information was…

  5. "Restructuring" Stirs Outcry at James Madison.

    Science.gov (United States)

    Magner, Denise K.

    1995-01-01

    An administration plan to discontinue the physics major at James Madison University (Virginia) has raised concerns about the president's leadership and management style, and the role of faculty in institutional decision making. Faculty were notified of the plan only after student leaders were told. (MSE)

  6. James Madison and "The Federalist Papers."

    Science.gov (United States)

    Patrick, John J.; And Others

    A collection of resources for high school history and government teachers and their students, this volume treats core ideas on constitutional government in the United States. James Madison's ideas as found in "The Federalist Papers" are examined in conjunction with their counterpoints in essays of the Anti-Federalists. This volume…

  7. James Madison and the Constitutional Convention.

    Science.gov (United States)

    Scanlon, Thomas M.

    1987-01-01

    Part 1 of this three-part article traces James Madison's life and focuses primarily on those events that prepared him for leadership in the U.S. Constitutional Convention of 1787. It describes his early love of learning, education, and public service efforts. Part 2 chronicles Madison's devotion to study and preparation prior to the Constitutional…

  8. James Bernard Russell: Scholar, collaborator, mentor

    Science.gov (United States)

    At the time of his untimely death in 2009, ARS scientist Dr. James B. Russell had established himself as the premier rumen microbiologist of his generation. Dr. Russell’s many contributions to the field, including much of the early work on the Cornell Net Carbohydrate System model, were the product ...

  9. Hearing loss among patients with Turner's syndrome: literature review

    Directory of Open Access Journals (Sweden)

    Cresio Alves

    2014-06-01

    Full Text Available INTRODUCTION: Turner's syndrome (TS is caused by a partial or total deletion of an X chromosome, occurring in 1:2,000 to 1:5,000 live born females. Hearing loss is one of its major clinical manifestations. However, there are few studies investigating this problem. OBJECTIVES: To review the current knowledge regarding the epidemiology, etiology, clinical manifestations and diagnosis of hearing impairment in patients with TS. METHODS: A bibliographic search was performed in the Medline and Lilacs databanks (1980-2012 to identify the main papers associating Turner's syndrome, hearing impairment and its clinical outcomes. CONCLUSIONS: Recurrent otitis media, dysfunction of the Eustachian tube, conductive hearing loss during infancy and sensorineural hearing loss in adolescence are the audiologic disorders more common in ST. The karyotype appears to be important in the hearing loss, with studies demonstrating an increased prevalence in patients with monosomy 45,X or isochromosome 46,i(Xq. Morphologic studies of the cochlea are necessary to help out in the clarifying the etiology of the sensorineural hearing loss.

  10. Growth hormone treatment in Turner's syndrome: A real world experience

    Directory of Open Access Journals (Sweden)

    Vijay Sheker Reddy Danda

    2017-01-01

    Full Text Available Objective: Short stature is a universal clinical feature of Turner's syndrome (TS. Growth failure begins in fetal life, and adults with TS are on an average 20 cm shorter than the normal female population. Since there is a paucity of data from India regarding the effect of growth hormone (GH on TS patients, we retrospectively analyzed the data of TS patients who are on GH treatment. Methods: This hospital-based observational retrospective study was conducted in a tertiary care hospital of Hyderabad. The data such as height, weight, and bone age of 16 patients who are diagnosed with TS on GH therapy for at least 6 months were included in the study. All the patients were treated with human recombinant GH at the dose of 0.3 mg/kg/week administered as daily subcutaneous injections. Results: The mean age at diagnosis was 12.7 years. The mean height at the start of GH therapy was 1.26 m, and mean height standard deviation score (HSDS was-0.61 when compared to Turner's specific reference data. With a mean duration of GH therapy of 25 months, the mean height at the end of therapy was 1.37 m and the mean height as per HSDS was + 0.37 resulting in a mean height gain of + 0.99 HSDS. Conclusion: Our observation shows that girls with TS benefit from early diagnosis and initiation of treatment with GH.

  11. Tribute to the legend Mr. Veterinary Public Health, Professor James ...

    African Journals Online (AJOL)

    The author was also destined during his Sabbatical Leave to have an interactive interview session with Prof James Steele after attending the 20th Annual James Steele lecture/ 99th birthday Dinner of Professor James Steele 4th and 6th April 2012 at the Texas School of Public Health, Houston, Texas, USA. The interview ...

  12. Generalized epilepsy in a patient with mosaic Turner syndrome: a case report.

    Science.gov (United States)

    Jhang, Kai-Ming; Chang, Tung-Ming; Chen, Ming; Liu, Chin-San

    2014-04-02

    Reports on cases of epilepsy in Turner syndrome are rare and most of them have cortical developmental malformations. We report the case of a Taiwanese patient with mosaic Turner syndrome with generalized tonic-clonic epilepsy and asymmetrical lateral ventricles but no apparent cortical anomaly. A 49-year-old Taiwanese woman without family history presented with infrequent generalized tonic-clonic epilepsy since she was 11 years old. On examination, her short stature, webbed neck, swelling of hands and feet, retrognathic face, and mild intellectual disability were noted. She had spontaneous menarche and regular menses. Brain magnetic resonance imaging showed asymmetrical lateral ventricles and diffuse subcortical white matter T2-weighted hyperintensities. Chromosome studies disclosed low aneuploid (10%) 45,X/46,XX/47,XXX mosaic Turner syndrome. There is increasing evidence that epilepsy can be an uncommon presentation of Turner syndrome. Mosaic Turner syndrome with 47, XXX probably increases the risk of epilepsy but more research is needed to reach a conclusion. This case also strengthens our knowledge that Turner syndrome can be one of the pathologic bases of asymmetrical lateral ventricles. When a patient has idiopathic/cryptogenic epilepsy or asymmetrical lateral ventricles on brain images, the presence of a mild Turner phenotype warrants further chromosome studies.

  13. James Webb Space Telescope Optical Telescope Element Mirror Development History and Results

    Science.gov (United States)

    Feinber, Lee D.; Clampin, Mark; Keski-Kuha, Ritva; Atkinson, Charlie; Texter, Scott; Bergeland, Mark; Gallagher, Benjamin B.

    2012-01-01

    In a little under a decade, the James Webb Space Telescope (JWST) program has designed, manufactured, assembled and tested 21 flight beryllium mirrors for the James Webb Space Telescope Optical Telescope Element. This paper will summarize the mirror development history starting with the selection of beryllium as the mirror material and ending with the final test results. It will provide an overview of the technological roadmap and schedules and the key challenges that were overcome. It will also provide a summary or the key tests that were performed and the results of these tests.

  14. Long QT interval in Turner syndrome--a high prevalence of LQTS gene mutations.

    Science.gov (United States)

    Trolle, Christian; Mortensen, Kristian H; Pedersen, Lisbeth N; Berglund, Agnethe; Jensen, Henrik K; Andersen, Niels H; Gravholt, Claus H

    2013-01-01

    QT-interval prolongation of unknown aetiology is common in Turner syndrome. This study set out to explore the presence of known long QT mutations in Turner syndrome and to examine the corrected QT-interval (QTc) over time and relate the findings to the Turner syndrome phenotype. Adult women with Turner syndrome (n = 88) were examined thrice and 68 age-matched healthy controls were examined once. QTc was measured by one blinded reader (intra-reader variability: 0.7%), and adjusted for influence of heart rate by Bazett's (bQTc) and Hodges's formula (hQTc). The prevalence of mutations in genes related to Long QT syndrome was determined in women with Turner syndrome and a QTc >432.0 milliseconds (ms). Echocardiographic assessment of aortic valve morphology, 24-hour blood pressures and blood samples were done. The mean hQTc in women with Turner syndrome (414.0 ± 25.5 ms) compared to controls (390.4 ± 17.8 ms) was prolonged (pTurner syndrome karyotypes (418.2 ± 24.8 vs. 407.6 ± 25.5 ms; p = 0.055). In women with Turner syndrome and a bQTc >432 ms, 7 had mutations in major Long QT syndrome genes (SCN5A and KCNH2) and one in a minor Long QT syndrome gene (KCNE2). There is a high prevalence of mutations in the major LQTS genes in women with TS and prolonged QTc. It remains to be settled, whether these findings are related to the unexplained excess mortality in Turner women. NCT00624949. https://register.clinicaltrials.gov/prs/app/action/SelectProtocol/sid/S0001FLI/selectaction/View/ts/3/uid/U000099E.

  15. From Iser to Turner and beyond: reception theory meets cognitive criticism

    Directory of Open Access Journals (Sweden)

    Craig Hamilton

    2012-01-01

    Full Text Available In this essay, we review the work of Wolfgang Iser, the major proponent of reception theory, and Mark Turner, the major proponent of cognitive criticism. The two theoretical lines advocated by Iser and Turner focus on the cognitive processes involved with reading literary texts. Unfortunately, bibliographic blind spots in both lines lead to the assumption that there is little overlap between reception theory and cognitive criticism. We put this assumption to rest by comparing and contrasting works by Iser and Turner in detail, starting with Iser’s work in the mid-1970s and ending with Turner’s work in the late 1990s.

  16. James Weldon Johnson and the Speech Lab Recordings

    Directory of Open Access Journals (Sweden)

    Chris Mustazza

    2016-03-01

    Full Text Available On December 24, 1935, James Weldon Johnson read thirteen of his poems at Columbia University, in a recording session engineered by Columbia Professor of Speech George W. Hibbitt and Barnard colleague Professor W. Cabell Greet, pioneers in the field that became sociolinguistics. Interested in American dialects, Greet and Hibbitt used early sound recording technologies to preserve dialect samples. In the same lab where they recorded T.S. Eliot, Gertrude Stein, and others, James Weldon Johnson read a selection of poems that included several from his seminal collection God’s Trombones and some dialect poems. Mustazza has digitized these and made them publicly available in the PennSound archive. In this essay, Mustazza contextualizes the collection, considering the recordings as sonic inscriptions alongside their textual manifestations. He argues that the collection must be heard within the frames of its production conditions—especially its recording in a speech lab—and that the sound recordings are essential elements in an hermeneutic analysis of the poems. He reasons that the poems’ original topics are reframed and refocused when historicized and contextualized within the frame of The Speech Lab Recordings.

  17. [Delocalizing the mind. Peirce, James, Wittgenstein, Descombes].

    Science.gov (United States)

    Chauviré, Christiane

    2010-01-01

    The cognitive sciences have breathed fresh air into the old problem of localizing mental functions, which was often laughed off. Regarding the most philosophical form of the question on the localization of the mind, authors such as Peirce, James, Wittgenstein, and most recently Descombes have imagined delocalizing the mind in order to spread the conviction that the idea itself of a location of the mental is meaningless and to criticize the localisationism of today's cognitive scientists.

  18. William James and the Heidelberg fiasco.

    Science.gov (United States)

    Gundlach, Horst

    2018-02-01

    Urged on by his father to become a physician instead of a painter, William James pursued 3 evasion stratagems. First, to avoid becoming a practitioner, he declared that he wanted to specialize in physiology. Based upon this premise, he left for Germany in the spring of 1867. The second step was giving up general physiology and announcing that he would specialize in the nervous system and psychology. Based upon this premise, he declared that he would go to Heidelberg and study with Helmholtz and Wundt. However, he then deferred going there. When, at last, he was urged by an influential friend of his father's to accompany him to Heidelberg, he employed his default stratagem: He simply fled. He returned home after 3 terms in Europe without enrolling at a single university. There is no evidence that he had learned anything there about psychology or experimental psychology, except, possibly, by reading books. James's "Heidelberg fiasco" was the apogee of his evasion of his father's directive. A dense fog of misinformation surrounds his stay in Heidelberg to this day. By analyzing circumstances and context, this article examines the fiasco and places it in the pattern of his behavior during his stay in Europe. Nevertheless, experiencing this fiasco potentially shaped James's ambivalent attitude toward experimental psychology on a long-term basis. (PsycINFO Database Record (c) 2018 APA, all rights reserved).

  19. Current best practice in the management of Turner syndrome

    Science.gov (United States)

    Shankar, Roopa Kanakatti; Backeljauw, Philippe F.

    2017-01-01

    Turner syndrome (TS) is characterized by partial or complete loss of the second X-chromosome in phenotypic females resulting in a constellation of clinical findings that may include lymphedema, cardiac anomalies, short stature, primary ovarian failure and neurocognitive difficulties. Optimizing health care delivery is important to enable these individuals achieve their full potential. We review the current best practice management recommendations for individuals with TS focusing on the latest consensus opinion in regard to genetic diagnosis, treatment of short stature, estrogen supplementation, addressing psychosocial issues, as well screening for other comorbidities. A multidisciplinary approach and a well-planned transition to adult follow-up care will improve health care delivery significantly for this population. PMID:29344338

  20. Case of Combination of Hyperprolactinemic Hypogonadism and Mosaic Turner Syndrome

    Directory of Open Access Journals (Sweden)

    V.S. Vernyhorodskyi

    2016-04-01

    Full Text Available After detail examination of 24-year-old female patient (cariotype — 46XX/45XO, sex chromatin — 11 %, serum prolactin level — more than 200 mIU/ml (normal level — less than 26,72, ovarian ultrasound, geneticist consultation, magnetic resonance imaging of the hypophysis, the сlinical diagnosis was established: pituitary microadenoma. Hyperprolactinemic hypogonadism. Mosaic Turner syndrome. Genital infantilism. Infertility of endocrine origin. First menstruation occurred in 3 months, and pregnancy — in 4 month after initiation of the treatment with alactin 0.5 mg twice a week, after that bromocriptine 2.5 mg once a day was administered. On the 39–40th week of pregnancy, the patient gave birth to a girl (via cesarean section, whose weight was 3.4 kg and height — 48 cm.

  1. Obituary: James N. Kile, 1958-2007

    Science.gov (United States)

    Cliver, Edward W.; Lang, Kenneth R.; Willson, Robert F.

    2009-01-01

    James N. Kile, of Needham Heights, Massachusetts, died on 17 August 2007, following a brave two-year battle with cancer. One of three children of David R. Kile and Betty Jane Kile, Jim was born in Niagara Falls, New York, on 20 April 1958 and lived in the nearby village of Lewiston before his family settled in Alden, an hour east of Niagara Falls, when Jim was nine. Jim's father worked for American Telephone and Telegraph for 37 years, and his mother was a homemaker. Jim earned his Bachelor's degree in Physics from Rensselaer Polytechnic Institute in 1980, a Master's degree from Northwestern University in 1982, and a Doctorate from Tufts University in 1996 under the direction of Robert Willson. His thesis involved comparison of radio data from the Very Large Array and the Russian RATAN 600 telescope with Yohkoh soft X-ray data, with an emphasis on understanding the relationship between solar noise storms and coronal magnetic fields. While working on his thesis, Jim collaborated with one of us (EWC) at the Air Force Research Laboratory on an investigation of the 154-day periodicity in solar flares. The resulting publication (ApJ 370, 442, 1991) is his most cited work. Jim co-authored four other papers in refereed journals. Jim's professional affiliations included the American Astronomical Society, the American Institute of Aeronautics and Astronautics, the American Geophysical Union, and the Astronomical Society of the Pacific. Jim worked as a contractor in the defense industry from 1982 until the time of his death, settling in the Boston area in the early 1980s. He worked for Calspan Corporation from 1982-1989, the Ultra Corporation from 1989-1994, and the Riverside Research Institute from 1994-2007. He was a highly-respected expert in radar systems, including radar data and systems analysis, systems engineering, and planning support for radar acquisition programs and technology development. The work entailed frequent extended travel to Norway for system testing

  2. Alexithymia, emotion perception, and social assertiveness in adult women with Noonan and Turner syndromes

    NARCIS (Netherlands)

    Roelofs, R.L.; Wingbermühle, P.A.M.; Freriks, K.; Verhaak, C.M.; Kessels, R.P.C.; Egger, J.I.M.

    2015-01-01

    Noonan syndrome (NS) and Turner syndrome (TS) are associated with cognitive problems and difficulties in affective information processing. While both phenotypes include short stature, facial dysmorphisms, and a webbed neck, genetic etiology and neuropsychological phenotype differ significantly. The

  3. Alexithymia, Emotion Perception, and Social Assertiveness in Adult Women with Noonan and Turner Syndromes

    NARCIS (Netherlands)

    Roelofs, R.L.; Wingbermühle, P.A.M.; Freriks, K.; Verhaak, C.M.; Kessels, R.P.C.; Egger, J.I.M.

    2015-01-01

    Noonan syndrome (NS) and Turner syndrome (TS) are associated with cognitive problems and difficulties in affective information processing. While both phenotypes include short stature, facial dysmorphisms, and a webbed neck, genetic etiology and neuropsychological phenotype differ significantly. The

  4. Imaging of cardiovascular risk in patients with Turner's syndrome

    International Nuclear Information System (INIS)

    Marin, A.; Weir-McCall, J.R.; Webb, D.J.; Beek, E.J.R. van; Mirsadraee, S.

    2015-01-01

    Turner's syndrome is a disorder defined by an absent or structurally abnormal second X chromosome and affects around 1 in 2000 newborn females. The standardised mortality ratio in Turner's syndrome is around three-times higher than in the general female population, mainly as a result of cardiovascular disorders. Most striking is the early age at which Turner's syndrome patients develop the life-threatening complications of cardiovascular disorders compared to the general population. The cardiovascular risk stratification in Turner's syndrome is challenging and imaging is not systematically used. The aim of this article is to review cardiovascular risks in this group of patients and discuss a systematic imaging approach for early identification of cardiovascular disorders in these patients

  5. Epicardial oesophageal duplication with hiatal hernia in a case of Turner's syndrome

    International Nuclear Information System (INIS)

    Tamburrini, O.; Cigliano, S.; Esposito, G.; Cucchiara, S.

    1983-01-01

    The authors of this paper report the first case of epicardial oesophageal duplication causing hiatal hernia in a patient afflicted with Turner's syndrome, and they discuss its possible etiology. (orig.)

  6. Co-incidence of Turner syndrome and Duchenne muscular dystrophy - an important problem for the clinician.

    Science.gov (United States)

    Kaczorowska, Ewa; Zimowski, Janusz; Cichoń-Kotek, Monika; Mrozińska, Agnieszka; Purzycka, Joanna; Wierzba, Jolanta; Limon, Janusz; Lipska-Ziętkiewicz, Beata S

    Turner syndrome is a relatively common chromosomal disorder which affects about one in 2000 live born females. Duchenne muscular dystrophy is an X-linked recessive disorder affecting 1:3600 live born males. Considering the above, the coexistence of these two diseases may occur only anecdotally. Here, we report a 4 ½ year-old female with classical 45,X Turner syndrome who also had Duchenne muscular dystrophy caused by a point mutation in the dystrophin gene (c.9055delG). The patient showed the typical phenotype of Turner syndrome including distinctive dysmorphic features (short neck, low posterior hairline, wide position of nipples), aortic coarctation and feet lymphedema. Besides, she presented with an unusually early beginning of muscular dystrophy symptoms with infantile-onset motor developmental delay, intellectual disability and early calf muscular hypertrophy. The coexistence of an X-linked recessive disorder should be considered in women affected by Turner syndrome presenting with additional atypical clinical features.

  7. Congenital absence of the portal vein in a child with Turner syndrome

    International Nuclear Information System (INIS)

    Noe, Jacob A.; Burton, Edward M.; Pittman, Heather C.

    2006-01-01

    Congenital absence of the portal vein (CAPV) is a rare malformation associated with hepatic encephalopathy and liver function abnormalities. We report a case of a 2-year-old with Turner syndrome, CAPV, and congenital heart malformations. (orig.)

  8. Evidence of a normal mean telomere fragment length in patients with Ullrich-Turner syndrome

    DEFF Research Database (Denmark)

    Kveiborg, Marie; Gravholt, Claus Højbjerg; Kassem, M

    2001-01-01

    Clinical and epidemiological studies suggest that premature ageing and increased morbidity and mortality is present in Ullrich-Turner syndrome. We studied telomere restriction fragment length (TRFL) in 30 women with Ullrich-Turner syndrome and 30 age-matched control women. All Turner women had...... the 45,X karyotype verified by karyotyping. We found no difference in the mean TRFL in the young age group (TS: 7011+/-521 vs C: 7285+/-917 bp, P = 0.3), or in the older age group (TS: 7357+/-573 vs C: 7221+/-621 bp, P = 0.6). In conclusion, our data suggest that Ullrich-Turner syndrome is not associated...... with excessive telomere loss, at least when studied in peripheral blood leucocytes, and thus quite different from other premature ageing syndromes....

  9. Congenital absence of the portal vein in a child with Turner syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Noe, Jacob A.; Burton, Edward M. [Department of Radiology, University of Tennessee College of Medicine-Chattanooga Branch, Chattanooga, TN (United States); Pittman, Heather C. [Department of Pediatrics, University of Tennessee College of Medicine-Chattanooga Branch, Chattanooga, TN (United States)

    2006-06-15

    Congenital absence of the portal vein (CAPV) is a rare malformation associated with hepatic encephalopathy and liver function abnormalities. We report a case of a 2-year-old with Turner syndrome, CAPV, and congenital heart malformations. (orig.)

  10. FHWA research and technology evaluation program summary report spring 2016

    Science.gov (United States)

    2016-08-01

    This report summarizes the 16 evaluations being conducted by the Volpe National Transportation Systems Center on behalf of FHWAs Research and Technology Program. The FHWA R&T Program furthers the Turner-Fairbank Highway Research Centers goal of...

  11. Short bi-iliac distance in prenatal Ullrich-Turner syndrome

    DEFF Research Database (Denmark)

    Hartling, Ulla B; Hansen, Birgit Fischer; Keeling, Jean W

    2002-01-01

    The purpose of the present study is to evaluate the bi-iliac distance and the caudo-cranial position of the iliac bones in Ullrich-Turner syndrome (UTS) fetuses compared to recently published standards for normal fetuses. Whole-body radiographs in antero-posterior projections of 24 UTS fetuses...... in normal fetuses. The bi-iliac distance and the iliac bone position have not previously been described in Ullrich-Turner syndrome fetuses....

  12. Quantitative liver functions in Turner syndrome with and without hormone replacement therapy

    DEFF Research Database (Denmark)

    Gravholt, Claus Højbjerg; Poulsen, H.E.; Ott, Peter

    2007-01-01

    Studies have documented elevated levels of liver enzymes in many females with Turner syndrome (TS). Histology has shown a range of changes. Treatment with female hormone replacement therapy (HRT) reduces liver enzymes.......Studies have documented elevated levels of liver enzymes in many females with Turner syndrome (TS). Histology has shown a range of changes. Treatment with female hormone replacement therapy (HRT) reduces liver enzymes....

  13. Health-related quality of life among children with Turner syndrome: controlled cross-sectional study.

    Science.gov (United States)

    Amedro, Pascal; Tahhan, Nabil; Bertet, Helena; Jeandel, Claire; Guillaumont, Sophie; Mura, Thibault; Picot, Marie-Christine

    2017-08-28

    The aim of the study was to assess health-related quality of life (HR-QoL) in children with Turner syndrome in comparison with controls. We prospectively recruited 16 female girls with Turner syndrome (mean age 15.2±2.6 years) and 78 female controls (mean age 12.7±2.8 years) in randomly selected schools. We used the PedsQL, a generic HR-QoL questionnaire (self and parents' versions). Global HR-QoL scores in Turner syndrome were lower than controls for self-reports (respectively, 74.3±3.0 vs. 82.8±1.3, p=0.01) and parents' reports (62.7±3.8 vs. 80.1±1.7, pTurner syndrome, self-reported HR-QoL was impaired in school functioning (70.6±4.0 vs. 80.71±1.7, p=0.02), social functioning (78.2±4.0 vs. 90.4±1.8, pTurner syndrome, as in previously reported adult studies. In addition to medical treatment and routine clinical follow-up, female girls and teenagers with Turner syndrome should also be supported psychologically by social, educational and psychotherapeutic interventions that aim to address their self-esteem and emotional difficulties.

  14. Psychosocial Characteristics of Women with a Delayed Diagnosis of Turner Syndrome.

    Science.gov (United States)

    Reimann, Gabrielle E; Bernad Perman, Martha M; Ho, Pei-Shu; Parks, Rebecca A; Comis, Leora E

    2018-05-09

    To characterize the psychosocial profiles of adult women diagnosed with Turner syndrome before (early diagnosis) and at or after (late diagnosis) 13 years of age. Women with Turner syndrome ages 22 and older at evaluation (n = 110) participated in a cross-sectional study at the National Institutes of Health. Researchers performed nonparametric and logistic regression analyses to assess early and late diagnosis cohorts on measures of depression, substance use, and perceptions of competence and identity. Of study participants, 47% received a Turner syndrome diagnosis at or after age 13 years. Median age at diagnosis was 12.0 years (range, 0-43). Covariate-adjusted models revealed that women with late diagnoses had an increased likelihood of developing mild to severe depressive symptoms (OR,  7.36) and a decreased likelihood of being perceived as competent (OR, 0.26). Women with a late diagnosis also exhibited more frequent substance use compared with women with early diagnoses. These data suggest that Turner syndrome diagnoses received at or after age 13 years may contribute to adverse outcomes related to depression, substance use, and perceptions of competence. Delayed Turner syndrome diagnoses may place women and girls at risk for negative psychosocial development extending into adulthood. These findings indicate it is important for pediatricians to evaluate psychosocial domains in girls with Turner syndrome regularly, particularly among those diagnosed at age 13 years or older. ClinicalTrials.gov: NCT00006334. Published by Elsevier Inc.

  15. James Bernoulli与《推测术》%James Bernoulli and Stochastics

    Institute of Scientific and Technical Information of China (English)

    于忠义

    2003-01-01

    Two hundred and eighty-nine years ago, "Arts of conjecturing", the posthumous work of the great mathematician James Bernoulli, was finally produced in the eager wait of mathematicians, Ian Hacking, a famous historian of statistics, commented that the publication of the book signaled the beginning of the mathematical theory of probability and terminated man's long process in the forming of the probability concept By introducing James Bernoulli and his "Arts of conjecturing", this paper aims at providing the reader with the 18th century story of Bemoulli's work, and at making the reader know that even today Bemoulli's idea is very helpful and instructive in the research of modern statistics.

  16. Endotelium in Turner syndrome with capillaroscopy Endotélio na síndrome de Turner com capilaroscopia

    Directory of Open Access Journals (Sweden)

    Simone Cristina da Silva Coelho

    2011-06-01

    Full Text Available OBJECTIVE: The aim of this study was to assess the endothelium function in patients with Turner syndrome using videocapillaroscopy and to compare the results with healthy control. METHODS: Subjects and controls were studied in a temperature-controlled room, 20 days after no nailfold manipulations. The capillaries were visualized by a microscope connected to a television and a computer. The test of post-occlusive reactive hyperemia was performed using a sphygmomanometer attached to the fourth left finger, 20mmHg above maximum arterial pressure during 1 minute, and the following patterns were studied: area of transverse segment, maximal post-ischemia area and time to reach maximal post-ischemia area. RESULTS: The value of measure of transverse segment projected area , the maximal postischemia area of hand nailfold capillary loops using computerized videophotometry and the time to reach maximal post ischemia area were studied in 40 patients with Turner syndrome and 26 healthy women controls of comparable age (20±7.5 versus 18±8.1 years old; p=0.57. There were differences between transverse segment area (706.8±139.1 versus 548.8±117.2; p=0.001. Maximal post-ischemia area (891.3±226.1 versus 643.5±134.3; p=0.001 and the time to reach it (10.8±4.3 versus 5.5±2.5; p=0.001 were different between patients and controls. CONCLUSIONS: Changes of capillary response to ischemia could be observed in patients with Turner syndrome using videocapillaroscopy when they were compared to a healthy control group.OBJETIVOS: O objetivo deste estudo foi avaliar a função endotelial de pacientes com síndrome de Turner, utilizando a videocapilaroscopia e comparar os resultados com grupo controle saudável. MÉTODOS: Pacientes e controles foram estudados em sala com temperatura controlada, após 20 dias, sem a manipulação das cutículas. Os capilares foram visualizados por microscópio conectado a televisão e computador. O teste de hiperemia reativa p

  17. Turner's syndrome and pregnancy: has the 45,X/47,XXX mosaicism a different prognosis? Own clinical experience and literature review.

    Science.gov (United States)

    Bouchlariotou, Sofia; Tsikouras, Panagiotis; Dimitraki, Marina; Athanasiadis, Apostolos; Papoulidis, Ioannis; Maroulis, George; Liberis, Anastasios; Liberis, Vasileios

    2011-05-01

    Turner's syndrome is characterized by an ovarian failure which occurs in most cases before puberty and leads to infertility. In less than 10% of women with Turner syndrome, puberty may occur and spontaneous pregnancies is possible but with a high risk of fetal loss, chromosomal and congenital abnormalities. We present the case of a 33-year-old woman with a mosaic Turner's syndrome karyotype 45,X/47,XXX who conceived spontaneously and had two successful pregnancies. Short stature was the only manifestation of Turner's syndrome. In the present report, we reviewed the available literature on the fertility of women with Turner's syndrome and the phenotypic effects of mosaicism for a 47,XXX cell line in Turner's syndrome.

  18. Hypertensive Cerebral Hemorrhage in a Patient with Turner Syndrome Caused by Deletion in the Short Arm of the X Chromosome.

    Science.gov (United States)

    Hori, Yusuke S; Ohkura, Takahiro; Ebisudani, Yuki; Umakoshi, Michiari; Ishi, Masato; Oda, Kazunori; Aoi, Mizuho; Inoue, Takushi; Furujo, Mahoko; Tanaka, Hiroyuki; Fukuhara, Toru

    2018-01-01

    Turner syndrome is a chromosomal disorder usually caused by complete deletion of an X chromosome, with deletion in the short arm of the X chromosome being a rare cause of the condition. Patients with Turner syndrome commonly develop hypertension, and associated vascular complications such as aortic dissection or cerebral hemorrhage have been reported. Cerebral hemorrhage in Turner syndrome is a rare complication, and only a few reports have been published. In these reports, all patients have XO karyotypes or a mosaic type as the cause of Turner syndrome, while no other Turner syndrome types have been documented. In this report, we present for the first time a patient with Turner syndrome caused by deletion in the short arm of the X chromosome who experienced hypertensive hemorrhage as a late complication. © 2017 S. Karger AG, Basel.

  19. Arterial hypertension in Turner syndrome: a review of the literature and a practical approach for diagnosis and treatment.

    Science.gov (United States)

    De Groote, Katya; Demulier, Laurent; De Backer, Julie; De Wolf, Daniel; De Schepper, Jean; Tʼsjoen, Guy; De Backer, Tine

    2015-07-01

    Turner syndrome is a rare chromosomal disorder with complete or partial absence of one X chromosome that only occurs in women. Clinical presentation is variable, but congenital and acquired cardiovascular diseases are frequently associated diseases that add significantly to the increased morbidity and mortality in Turner syndrome patients. Arterial hypertension is reported in 13-58% of adult Turner syndrome patients and confers an increased risk for stroke and aortic dissection. Hypertension can be present from childhood on and is reported in one-quarter of the paediatric Turner syndrome patients. This article reviews the prevalence and cause of arterial hypertension in Turner syndrome and describes the relationship between blood pressure, aortic dilation and increased cardiovascular risk. We compare current treatment strategies and also propose an integrated practical approach for the diagnosis and treatment of hypertension in Turner syndrome applicable in daily practice.

  20. A case of Swyer-James syndrome

    International Nuclear Information System (INIS)

    Suzuki, Toshimitsu; Ohtani, Naoshi; Kimura, Sohichi; Izuchi, Rokuro; Iio, Masaaki; Fujinami, Kenji.

    1982-01-01

    Infantile infections are thought to constitute one of the main bases of the etiology of Swyer-James syndrome. This case seems to support the above theory allowing for the anamnesis of the pleuritis at 2 years of age, bronchographical findings - bilateral but markedly left-sided bud-like bronchiectatic changes - and left pulmonary angiographical findings - simultaneous appearance of pulmonary arteries and veins with scarce capillary image. Concerning the ventilation of this syndrome, 133 Xe inhalation test showed a ''Pendelluft'' phenomenon, shift of 133 Xe from the healthy to the affected lung on forced expiration. (author)

  1. Kuula. Kellele ei meeldiks James Blunt? / Mart Juur

    Index Scriptorium Estoniae

    Juur, Mart, 1964-

    2007-01-01

    Heliplaatidest: James Blunt "Back To Bedlam", Enrique Iglesias "Insomniac", Prince "Planet Earth", Garbage "Absolut Garbage", Justice "Cross", Interpol "Our Love To Admire", Rufus Wainwright "Release The Stars"

  2. Left-sided congenital heart lesions in mosaic Turner syndrome.

    Science.gov (United States)

    Bouayed Abdelmoula, Nouha; Abdelmoula, Balkiss; Smaoui, Walid; Trabelsi, Imen; Louati, Rim; Aloulou, Samir; Aloulou, Wafa; Abid, Fatma; Kammoun, Senda; Trigui, Khaled; Bedoui, Olfa; Denguir, Hichem; Mallek, Souad; Ben Aziza, Mustapha; Dammak, Jamila; Kaabi, Oldez; Abdellaoui, Nawel; Turki, Fatma; Kaabi, Asma; Kamoun, Wafa; Jabeur, Jihen; Ltaif, Wided; Chaker, Kays; Fourati, Haytham; M'rabet, Samir; Ben Ameur, Hedi; Gouia, Naourez; Mhiri, Mohamed Nabil; Rebai, Tarek

    2018-04-01

    In the era of the diseasomes and interactome networks, linking genetics with phenotypic traits in Turner syndrome should be studied thoroughly. As a part of this stratagem, mosaicism of both X and Y chromosome which is a common finding in TS and an evaluation of congenital heart diseases in the different situations of mosaic TS types, can be helpful in the identification of disturbed sex chromosomes, genes and signaling pathway actors. Here we report the case of a mosaic TS associated to four left-sided CHD, including BAV, COA, aortic aneurysms and dissections at an early age. The mosaicism included two cell lines, well-defined at the cytogenetic and molecular levels: a cell line which is monosomic for Xp and Xq genes (45,X) and another which is trisomic for pseudoautosomal genes that are present on the X and Y chromosomes and escape X inactivation: 45,X[8]/46,X,idic(Y)(pter→q11.2::q11.2→pter)[42]. This case generates two hypotheses about the contribution of genes linked to the sex chromosomes and the signaling pathways involving these genes, in left-sided heart diseases. The first hypothesis suggests the interaction between X chromosome and autosomal genes or loci of aortic development, possibly dose-dependent, and which could be in the framework of TGF-β-SMAD signaling pathways. The second implies that left-sided congenital heart lesions involve sex chromosomes loci. The reduced dosage of X chromosome gene(s), escaping X inactivation during development, contributes to this type of CHD. Regarding our case, these X chromosome genes may have homologues at the Y chromosome, but the process of inactivation of the centromeres of the isodicentric Y spreads to the concerned Y chromosome genes. Therefore, this case emerges as an invitation to consider the mosaics of Turner syndrome and to study their phenotypes in correlation with their genotypes to discover the underlying developmental and genetic mechanisms, especially the ones related to sex chromosomes.

  3. Henry James – Modern Theoretician of Narration

    Directory of Open Access Journals (Sweden)

    Alexandra - Denisa IGNA

    2013-01-01

    Full Text Available Henry James, properly named world writer, was one of the first modern novelists, with an exigent writing conscience. The American writer subverted the prejudgement of the omniscient author in favour of the narration which is centred on the characters’ point of view, thus modernising the novel before V. Woolf, Huxley, Thomas Mann, or in our case Camil Petrescu and G. Călinescu. Some bio-bibliographical information familiarises the reader with the life and work of this writer. The larger part of the article is dedicated to a case study of the novel with the metaphorical title: The Figure in the Carpet, where Henry James tries to illustrate in an artistic manner his conception regarding the profundity and ineffability of the literary creation. The conclusion which the author reaches, alternating the familiar plan of the relationship between a married couple with the esthetical plan, is that the relationship between writer and his work represents an act of fully intimacy, just like a ceremony that takes place in the wedding night

  4. Risk of Gonadoblastoma Development in Patients with Turner Syndrome with Cryptic Y Chromosome Material.

    Science.gov (United States)

    Kwon, Ahreum; Hyun, Sei Eun; Jung, Mo Kyung; Chae, Hyun Wook; Lee, Woo Jung; Kim, Tae Hyuk; Kim, Duk Hee; Kim, Ho-Seong

    2017-06-01

    Current guidelines recommend that testing for Y chromosome material should be performed only in patients with Turner syndrome harboring a marker chromosome and exhibiting virilization in order to detect individuals who are at high risk of gonadoblastoma. However, cryptic Y chromosome material is suggested to be a risk factor for gonadoblastoma in patients with Turner syndrome. Here, we aimed to estimate the frequency of cryptic Y chromosome material in patients with Turner syndrome and determine whether Y chromosome material increased the risk for development of gonadoblastoma. A total of 124 patients who were diagnosed with Turner syndrome by conventional cytogenetic techniques underwent additional molecular analysis to detect cryptic Y chromosome material. In addition, patients with Turner syndrome harboring Y chromosome cell lines had their ovaries removed prophylactically. Finally, we assessed the occurrence of gonadoblastoma in patients with Turner syndrome. Molecular analysis demonstrated that 10 patients had Y chromosome material among 118 patients without overt Y chromosome (8.5%). Six patients with overt Y chromosome and four patients with cryptic Y chromosome material underwent oophorectomy. Histopathological analysis revealed that the occurrence of gonadoblastoma in the total group was 2.4%, and gonadoblastoma occurred in one of six patients with an overt Y chromosome (16.7%) and 2 of 10 patients with cryptic Y chromosome material (20.0%). The risk of developing gonadoblastoma in patients with cryptic Y chromosome material was similar to that in patients with overt Y chromosome. Therefore, molecular screening for Y chromosome material should be recommended for all patients with Turner syndrome to detect individuals at a high risk of gonadoblastoma and to facilitate proper management of the disease.

  5. New insights on diabetes in Turner syndrome: results from an observational study in adulthood.

    Science.gov (United States)

    Ibarra-Gasparini, Daniela; Altieri, Paola; Scarano, Emanuela; Perri, Annamaria; Morselli-Labate, Antonio M; Pagotto, Uberto; Mazzanti, Laura; Pasquali, Renato; Gambineri, Alessandra

    2018-03-01

    To explore the characteristics of diabetes mellitus in adults with Turner syndrome. Observational study consisting of a prospective phase after the access of adults with Turner syndrome to the Endocrinology Unit (median period of follow-up 15.6, interquartile range: 12.0-24.5 months) and a retrospective collection of data from the diagnosis of Turner syndrome until the time of access to the Endocrinology Unit. A total of 113 Italian Turner syndrome patients were included in the study. During the prospective phase of the study, each patient underwent physical examination, fasting blood sampling, and an oral glucose tolerance test on a yearly basis. Oral glucose tolerance test was used to perform the diagnosis of diabetes mellitus. Before access to the Endocrinology Unit, diabetes mellitus was diagnosed in two Turner syndrome patients. Another five cases of diabetes mellitus were diagnosed at the first access to the Endocrinology Unit, whereas seven new cases of diabetes mellitus were diagnosed during the prospective phase of the study. At the diagnosis of diabetes mellitus, only one patient had fasting glucose above 126 mg/dL, and only two had an HbA1c value >6.5% (48 mmol/mol). When compared to normo-glucose tolerant patients, the diabetic patients had a significantly lower insulin-to-glucose ratio at 30 and 60 min of the oral glucose tolerance test. In the regression analyses, only age was associated with the development of diabetes mellitus. This study confirms that diabetes mellitus is frequent in Turner syndrome and suggests that it is specific to the syndrome. In addition, this study demonstrates that oral glucose tolerance test is a more sensitive test than HbA1c for the diagnosis of diabetes mellitus in Turner syndrome.

  6. Long QT interval in Turner syndrome--a high prevalence of LQTS gene mutations.

    Directory of Open Access Journals (Sweden)

    Christian Trolle

    Full Text Available QT-interval prolongation of unknown aetiology is common in Turner syndrome. This study set out to explore the presence of known long QT mutations in Turner syndrome and to examine the corrected QT-interval (QTc over time and relate the findings to the Turner syndrome phenotype.Adult women with Turner syndrome (n = 88 were examined thrice and 68 age-matched healthy controls were examined once. QTc was measured by one blinded reader (intra-reader variability: 0.7%, and adjusted for influence of heart rate by Bazett's (bQTc and Hodges's formula (hQTc. The prevalence of mutations in genes related to Long QT syndrome was determined in women with Turner syndrome and a QTc >432.0 milliseconds (ms. Echocardiographic assessment of aortic valve morphology, 24-hour blood pressures and blood samples were done.The mean hQTc in women with Turner syndrome (414.0 ± 25.5 ms compared to controls (390.4 ± 17.8 ms was prolonged (p432 ms, 7 had mutations in major Long QT syndrome genes (SCN5A and KCNH2 and one in a minor Long QT syndrome gene (KCNE2.There is a high prevalence of mutations in the major LQTS genes in women with TS and prolonged QTc. It remains to be settled, whether these findings are related to the unexplained excess mortality in Turner women.NCT00624949. https://register.clinicaltrials.gov/prs/app/action/SelectProtocol/sid/S0001FLI/selectaction/View/ts/3/uid/U000099E.

  7. Clinical disease characteristics according to karyotype in Turner syndrome

    Directory of Open Access Journals (Sweden)

    Chae Young Yeo

    2010-02-01

    Full Text Available Purpose : Turner syndrome (TS is a disorder in which various anomalies can be accompanied, especially cardiovascular, renal, thyroid and auditory problems. The aim of this study is to identify the incidence of these disorders in patients with TS according to karyotype. Methods : We reviewed medical records of 90 patients with TS diagnosed by chromosomal analysis in 4 hospitals from Jan 1998 to Dec 2007. We evaluated these cases by prepared protocol of 4 medical problems. Results : The distribution of karyotype was 45,X (47.8%, mosaic pattern (34.4% and structural aberration group (17.8 %. Renal anomalies, cardiovascular anomalies, thyroid disorders and auditory problems are accompanied in 4.4%, 10.0 %, 11.1% and 5.6%, respectively. 45,X group had renal anomalies (7.0%, cardiovascular anomalies (18.6%, thyroid disorders (9.3% and auditory problems (11.6%. Mosaic group had renal anomalies (3.2%, thyroid disorders (12.9%, no cardiovascular anomalies and auditory problems. Structural aberration group had cardiovascular anomalies (6.3%, thyroid disorders (12.5% and no other 2 problems. Patients with 45,X group had a significant higher incidence of cardiovascular anomalies (P=0.025. Conclusion : Our results indicate that there are differences clinically according to karyotype of TS, especially in incidence of cardiovascular anomalies.

  8. Turner syndrome--issues to consider for transition to adulthood.

    Science.gov (United States)

    Lucaccioni, Laura; Wong, Sze Choong; Smyth, Arlene; Lyall, Helen; Dominiczak, Anna; Ahmed, S Faisal; Mason, Avril

    2015-03-01

    Turner syndrome (TS) is associated with a spectrum of health problems across the age span, which requires particular attention during the transition period in these adolescents. The majority of girls with TS require oestrogen replacement from puberty onwards, which is important for adequate feminization, uterine development and maintenance of bone health. There is a lifetime increased risk from autoimmune conditions like hypothyroidism, coeliac disease, hearing loss and aortic dilatation with the potential to lead to aortic dissection. A systematic and holistic approach to provision of health care in TS is needed. Several unanswered questions remain, including the choice of hormone replacement therapy in the young person with TS and in adulthood; the optimal mode of cardiovascular assessment; the best management and assessment prior to and during pregnancy. The optimal model of care and transition to adult services in TS requires attention. Further research is needed in relation to cardiovascular risk assessment, pregnancy management and hormone replacement therapy in TS. © The Author 2014. Published by Oxford University Press. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.

  9. A Case of Turner Syndrome with Multiple Embolic Infarcts

    Directory of Open Access Journals (Sweden)

    Cindy W. Yoon

    2016-09-01

    Full Text Available Only a few cases of Turner syndrome (TS with ischemic stroke have been reported. Various arteriopathies of the cerebral arteries, including fibromuscular dysplasia, congenital hypoplasia, moyamoya syndrome, and premature atherosclerosis have been assumed to be the cause of ischemic stroke in TS. There has been no case report of a TS patient presenting with an embolic stroke pattern without any cerebral arteriopathy. A 28-year-old woman with TS was referred to our hospital because of abnormal brain magnetic resonance imaging (MRI findings. She underwent brain MRI at the referring hospital because she experienced sudden-onset diffuse headache. Diffusion-weighted imaging revealed multiple acute embolic infarcts in different vascular territories. Intracranial and extracranial arterial disease was not detected on cerebral magnetic resonance angiography and carotid sonography. Embolic source workups, including transthoracic and transesophageal echocardiography, Holter monitoring, and transcranial Doppler shunt study, were all negative. Hypercoagulability and vasculitis panels were also negative. Our patient was diagnosed with cryptogenic embolic stroke. This is the first report of a TS patient with an embolic stroke pattern. Our case shows that ischemic stroke in TS could be due to embolism as well as the various cerebral arteriopathies documented in previous reports.

  10. Evaluation of cardiovascular anomalies in patients with asymptomatic turner syndrome using multidetector computed tomography.

    Science.gov (United States)

    Lee, Sun Hee; Jung, Ji Mi; Song, Min Seob; Choi, Seok jin; Chung, Woo Yeong

    2013-08-01

    Turner syndrome is well known to be associated with significant cardiovascular abnormalities. This paper studied the incidence of cardiovascular abnormalities in asymptomatic adolescent patients with Turner syndrome using multidetector computed tomography (MDCT) instead of echocardiography. Twenty subjects diagnosed with Turner syndrome who had no cardiac symptoms were included. Blood pressure and electrocardiography (ECG) was checked. Cardiovascular abnormalities were checked by MDCT. According to the ECG results, 11 had a prolonged QTc interval, 5 had a posterior fascicular block, 3 had a ventricular conduction disorder. MDCT revealed vascular abnormalities in 13 patients (65%). Three patients had an aberrant right subclavian artery, 2 had dilatation of left subclavian artery, and others had an aortic root dilatation, aortic diverticulum, and abnormal left vertebral artery. As for venous abnormalities, 3 patients had partial anomalous pulmonary venous return and 2 had a persistent left superior vena cava. This study found cardiovascular abnormalities in 65% of asymptomatic Turner syndrome patients using MDCT. Even though, there are no cardiac symptoms in Turner syndrome patients, a complete evaluation of the heart with echocardiography or MDCT at transition period to adults must be performed.

  11. Endometrial adenocarcinoma arising in a Turner's syndrome patient with spontaneous menstruation: a case report.

    Science.gov (United States)

    Sasamoto, Naoko; Ueda, Yutaka; Amemiya, Kyoka; Enomoto, Takayuki; Morii, Eiichi; Adachi, Kazushige

    2014-01-01

    Women with Turner's syndrome exhibit anovulation, and the majority do not spontaneously menstruate. We present an unusual case of endometrial adenocarcinoma developing in a Turner's syndrome patient who was exhibiting spontaneous menstruation while not receiving regular hormone therapy. The patient's karyotype from blood lymphocytes was a mosaic of 45,XO/ 46,XX. Menarche and sexual development were normal. Her menstrual cycle had been regular for one year, but then became noticeably irregular. At age 26 she was referred to our hospital after bleeding for almost 1 year. An endometrial adenocarcinoma was detected during performance of diagnostic endometrial curettage. A total abdominal hysterectomy with bilateral salpingo-oophorectomy and pelvic lymphadenectomy was conducted. The final histological diagnosis was endometrial adenocarcinoma, Grade 1, pT1a N0 M0. Fluorescence in situ hybridization analysis of the right and left ovaries revealed a mosaic karyotype of 45,XO/ CONCLUSION: Previous reports regarding Turner's syndrome detected spontaneous menstruation in only 16% of patients; however, spontaneous menstruation was observed in 8 of 10 (80%) Turner's syndrome cases that developed endometrial carcinoma without receiving regular hormone therapy (p < 0.0001). Hormone therapy may be indicated for an irregular menstrual cycle in Turner's syndrome patients.

  12. Empathy, autistic traits, and motor resonance in adults with Turner syndrome.

    Science.gov (United States)

    Lepage, Jean-François; Lortie, Mélissa; Deal, Cheri L; Théoret, Hugo

    2014-01-01

    Turner syndrome is a genetic condition resulting from the partial or complete absence of an X-chromosome in phenotypic females. Individuals with Turner syndrome often display social difficulties that are reminiscent of those associated with autistic spectrum disorders (ASD), conditions associated with empathy and mirror-neuron system (MNS) deficits. The goal of the present study was (1) to investigate the extent to which adults with Turner syndrome display autistic and empathic traits, and (2) to probe the integrity of the MNS in this neurogenetic disorder. Sixteen individuals with Turner syndrome and 16 age-, sex-, and IQ-matched controls took part in a neuropsychological assessment where the Weschler Abbreviated Scale of Intelligence, the Autism Spectrum Quotient and the Empathy Quotient were administered. Functioning of the MNS was assessed by measuring motor cortex activity with transcranial magnetic stimulation during an action-observation task. Results show that individuals with Turner syndrome do not differ significantly from controls regarding autistic or empathic traits, and present normal functioning of the MNS during action observation. Correlational analysis showed a significant positive relationship between scores on the Empathy Quotient and motor facilitation during action observation, bringing further support to the hypothesis that MNS activity is related to sociocognitive competence.

  13. James Cronin, CP Violation, and the Pierre Auger Observatory

    Science.gov (United States)

    dropdown arrow Site Map A-Z Index Menu Synopsis James Cronin, CP Violation and the Pierre Auger Observatory matter over antimatter."1 "The experiment uncovered the CP [charge-parity] violation, or a with Additional Information Additional information about James Cronin and the charge-parity (CP

  14. James Madison High School. A Curriculum for American Students.

    Science.gov (United States)

    Bennett, William J.

    This document presents the Secretary of Education's personal concept of a sound secondary school core curriculum. It is called "James Madison High School" in honor of President James Madison and his strong views that the people, in order to govern properly, must arm themselves with knowledge. The theoretical curriculum consists of four…

  15. James Hillman: Toward a poetic psychology.

    Science.gov (United States)

    Avens, R

    1980-09-01

    InThe Dream and the Underworld James Hillman continues to deepen and to refine Jung's recovery of the spontaneous image-making of the soul. Hillman's contribution lies in his "imaginai reduction"-relating of images to their archetypal background in Greek mythology. Myth is seen as the maker of the psyche, and, in turn, the soul-making ispoesis-a return to the imaginal and poetic basis of consciousness. Dreams, understood poetically, are neither messages to be deciphered and used for the benefit of the rational ego (Freud) nor compensatory to the ego (Jung); they are complete in themselves and must be allowed to speak for themselves. Hillman also sees dreams as initiations into the underworld of death-the other side of life where our imaginal substance is unobstructed by the literal and dualistic standpoints of the dayworld.

  16. Atypical Functional Brain Activation during a Multiple Object Tracking Task in Girls with Turner Syndrome: Neurocorrelates of Reduced Spatiotemporal Resolution

    Science.gov (United States)

    Beaton, Elliott A.; Stoddard, Joel; Lai, Song; Lackey, John; Shi, Jianrong; Ross, Judith L.; Simon, Tony J.

    2010-01-01

    Turner syndrome is associated with spatial and numerical cognitive impairments. We hypothesized that these nonverbal cognitive impairments result from limits in spatial and temporal processing, particularly as it affects attention. To examine spatiotemporal attention in girls with Turner syndrome versus typically developing controls, we used a…

  17. Math Learning Disability and Math LD Subtypes: Evidence from Studies of Turner Syndrome, Fragile X Syndrome, and Neurofibromatosis Type 1.

    Science.gov (United States)

    Mazzocco, Michele M. M.

    2001-01-01

    This study examined whether indicators of math learning disability were observed in 35 5- and 6-year-olds with either neurofibromatosis, Turner Syndrome, or fragile X syndrome and compared to controls. Findings indicate that girls with fragile X or Turner syndrome but not neurofibromatosis are significantly more likely to have specific math…

  18. Inhibin A and B in adolescents and young adults with Turner's syndrome and no sign of spontaneous puberty

    DEFF Research Database (Denmark)

    Gravholt, C.H.; Næraa, R.W.; Andersson, A.M.

    2002-01-01

    The aim of this study was to assess levels of inhibin A and B, FSH and LH in Turner's syndrome (TS) without signs of spontaneous ovarian activity.......The aim of this study was to assess levels of inhibin A and B, FSH and LH in Turner's syndrome (TS) without signs of spontaneous ovarian activity....

  19. Successful pregnancy with preimplantation genetic diagnosis in a woman with mosaic Turner syndrome.

    Science.gov (United States)

    Onalan, Gogsen; Yilmaz, Zerrin; Durak, Tulay; Sahin, Feride Iffet; Zeyneloglu, Hulusi Bulent

    2011-04-01

    To determine the efficacy of the preimplantation cytogenetic analysis of the embryos obtained from patient with mosaic Turner syndrome before an IVF program. Prospective cytogenetic analysis. University-based tertiary medical center. A 29 year-old female, a partner in a couple with male factor infertility, was diagnosed with mosaic Turner syndrome with a 45,X [17]/46,XX [13] karyotype. Preimplantation genetic diagnosis was performed on four blastomeres obtained from four different embryos by fluorescence in situ hybridization probes specific to chromosomes X, Y, 13, 18, 21 in an intracytoplasmic sperm injection cycle. Blastomeres with normal signals. Two blastomeres detected as normal were transferred and pregnancy was achieved. Preimplantation Genetic Diagnose should be considered in the infertility treatment of the patient with mosaic Turner Syndrome. Copyright © 2011 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.

  20. Mosaic male fetus of Turner syndrome with partial chromosome Y: A case report.

    Science.gov (United States)

    Xue, Dan; Cao, Dong-Hua; Mu, Kai; Lv, Yuan; Yang, Jun

    2018-06-01

    Turner syndrome, characterized by the presence of a monosomy X cell line, is a common chromosomal disorder. Patients with Turner syndrome are usually phenotypically female, and male cases are rarely reported. Here, we report a fetus with a mosaic karyotype: mos 45,X/46,X,del(Y)(q11.21). The fetus was initially misdiagnosed as female with Turner syndrome by both noninvasive prenatal testing and cytogenetic analysis of amniotic fluid and was subsequently found to have male anatomy by antenatal ultrasonography at 24 weeks gestational age. Through single nucleotide polymorphism-array and fluorescence in situ hybridization testing, we found that there was a truncated Y chromosome with sex-determining region Y (SRY) present in some cells of the fetus, which caused the male features in the fetus. © 2018 Japan Society of Obstetrics and Gynecology.

  1. Aortic dilatation in Turner syndrome: the role of MRI in early recognition

    International Nuclear Information System (INIS)

    Chalard, Francois; Ferey, Solene; Kalifa, Gabriel; Teinturier, Cecile

    2005-01-01

    Aortic dilatation and dissection are rare but important complications of Turner syndrome that increase the risk of sudden death in young patients. To assess the value of aortic MRI in patients with Turner syndrome; in particular to demonstrate early aortic dilatation. A total of 21 patients with Turner syndrome underwent MRI of the thoracic aorta with measurement of vessel diameter at four levels. Measurements were normal for age in 15 cases, two patients presented with values at the upper limit of normal and four had obvious dilatation of the ascending aorta. All were symptom free. MRI allows the non-invasive demonstration of early aortic dilatation, which may lead to earlier surgery in asymptomatic individuals. (orig.)

  2. Coexistence of Mayer-Rokitansky-Küster-Hauser Syndrome and Turner Syndrome: A Case Report.

    Science.gov (United States)

    Białka, Agnieszka; Gawlik, Aneta; Drosdzol-Cop, Agnieszka; Wilk, Krzysztof; Małecka-Tendera, Ewa; Skrzypulec-Plinta, Violetta

    2016-04-01

    Turner syndrome is a common chromosomal disorder, with an incidence of 1 in 2000 live-born female infants. Mayer-Rokitansky-Küster-Hauser syndrome (MRKH) affects 1 in 4500 female births and, rarely, it might be associated with gonadal dysgenesis. A 17-year-old girl was referred to our clinic with short stature and primary amenorrhea. The patient was diagnosed with Turner syndrome and underwent estrogen therapy. At the age of 24 years, just after the patient's sexual initiation, the first complete gynecological examination was performed. A blind-ending vagina was revealed and the patient was diagnosed with MRKH. Early diagnosis of coexistence of MRKH and Turner syndrome, although very difficult, might prevent patients from developing serious complications. Copyright © 2016 North American Society for Pediatric and Adolescent Gynecology. Published by Elsevier Inc. All rights reserved.

  3. An intriguing association of Turner syndrome with severe nephrotic syndrome: searching for a diagnosis.

    Science.gov (United States)

    Minzala, G; Ismail, G

    2016-10-01

    Systemic lupus erythematosus (SLE) is a chronic disease caused by an aberrant autoimmune response, with a large spectrum of clinical manifestations. It strikingly affects women. Recent papers reveal that the men with Klinefelter syndrome (47, XXY) have a higher incidence of lupus than the men in the general population, similar with that of genotypic females. On the other hand, there is a great lack of information regarding the association of SLE with Turner syndrome, but it seems to be a lower risk for females with Turner to develop SLE. We present a rare association of a Turner syndrome with SLE, with negative immunology for SLE and with diagnosis made on renal biopsy. These data suggest that the presence of two X chromosomes may predispose to SLE, the ligand (CD40 ligand) for one of the genes that contributes to the pathogenesis of SLE being located on the X chromosome. © The Author(s) 2016.

  4. Analysis of clinic and osteal change in Turner syndrome (report of 15 cases)

    International Nuclear Information System (INIS)

    Ye Zhiqiu; Guo Qinglu; Feng Changzheng; Wei Beiyang; Xiao Wei; Liu Yongxi; Zhang Yan

    2006-01-01

    Objective: To research the clinical and osteal radiology imaging features in Turner's syndrome. Methods: Analyzed the clinical and osteal radiology imaging features of 15 Turner's syndrome. Results: 15 patients were Karyotyped into 3 groups I, 45, X, n=8; II, 46, XX, n=5; III, 46, XX/45, X, n = 2. Radiology imaging features: osteo-porosis, n=14; metacarpal sign, n=8; phahanx, n=9; cubitus valgus, n=10; vertebra steodystrophia, n=5; brachy-dactylya, n=9; basilar impression malformation, n=11. Conclusion: The terminal heights of Turner' s patients were marked lower than normal growth, hormone was deficiency, learning ability declined and the sex gland was hypoplastic. The typical imaging feature do main reference value to diagnosis. (authors)

  5. Aortic dilatation in Turner syndrome: the role of MRI in early recognition

    Energy Technology Data Exchange (ETDEWEB)

    Chalard, Francois; Ferey, Solene; Kalifa, Gabriel [Saint Vincent de Paul Hospital, Department of Paediatric Radiology, Paris Cedex 14 (France); Teinturier, Cecile [Saint Vincent de Paul Hospital, Department of Paediatric Endocrinology, Paris (France)

    2005-03-01

    Aortic dilatation and dissection are rare but important complications of Turner syndrome that increase the risk of sudden death in young patients. To assess the value of aortic MRI in patients with Turner syndrome; in particular to demonstrate early aortic dilatation. A total of 21 patients with Turner syndrome underwent MRI of the thoracic aorta with measurement of vessel diameter at four levels. Measurements were normal for age in 15 cases, two patients presented with values at the upper limit of normal and four had obvious dilatation of the ascending aorta. All were symptom free. MRI allows the non-invasive demonstration of early aortic dilatation, which may lead to earlier surgery in asymptomatic individuals. (orig.)

  6. Aortic dilatation in Turner syndrome: the role of MRI in early recognition.

    Science.gov (United States)

    Chalard, François; Ferey, Solène; Teinturier, Cécile; Kalifa, Gabriel

    2005-03-01

    Aortic dilatation and dissection are rare but important complications of Turner syndrome that increase the risk of sudden death in young patients. To assess the value of aortic MRI in patients with Turner syndrome; in particular to demonstrate early aortic dilatation. A total of 21 patients with Turner syndrome underwent MRI of the thoracic aorta with measurement of vessel diameter at four levels. Measurements were normal for age in 15 cases, two patients presented with values at the upper limit of normal and four had obvious dilatation of the ascending aorta. All were symptom free. MRI allows the non-invasive demonstration of early aortic dilatation, which may lead to earlier surgery in asymptomatic individuals.

  7. Editors' overview for the Alan Turner Memorial volume

    Science.gov (United States)

    O'Regan, Hannah J.; Elton, Sarah; Schreve, Danielle

    2014-07-01

    The papers presented here, in this special volume dedicated to the memory of Alan Turner (1947-2012), provide a glimpse of the multi-faceted ways in which the mammalian fossil record can be investigated. The authors of contributions in this Special Issue are by no means an exhaustive list of his international collaborators and colleagues, and indeed, many are not represented here, but the contents cover many of the topics and issues that were of central archaeological and wider Quaternary mammalian interest to Alan. Although the papers are not intended to provide a comprehensive overview of all techniques that can be applied, the set nevertheless reveals a snapshot of the state-of-the-art and of some of the methods that have the potential to bring much more of the past to life. Alan always sought to move beyond the 'stamp-collecting' approach of simply listing which taxa were present at a site, attempting to elucidate what the presence of those animals might mean in terms of palaeoecology. In particular, the span of Alan's career has seen major advances in our understanding of Quaternary mammalian biostratigraphy and palaeobiogeography, the widespread application of novel techniques such as ancient DNA, the development of high-precision geochronology and the discovery of new hominin species. The papers presented here reflect those developments and highlight interdisciplinary approaches, from examination of sediments to careful measurements of the fossils themselves, from modelling the presence of taxa at particular points in the Quaternary to examination of the similarities and differences in fauna within and between sites.

  8. Resting energy expenditure in girls with Turner syndrome.

    Science.gov (United States)

    Binder, Gerhard; Frank, Laura; Ziegler, Julian; Blumenstock, Gunnar; Schweizer, Roland

    2017-03-01

    Knowledge concerning energy metabolism in Turner syndrome (TS) is lacking. We compared the resting energy expenditure per fat-free mass (REE/FFM) in TS with other girls with short stature treated with growth hormone (GH) and age-related controls. We measured prospectively REE by spirometry under fasting conditions in the morning in 85 short prepubertal girls at the start of GH treatment. Diagnoses were TS (n=20), GH deficiency (GHD) (n=38) and small for gestational age (SGA) short stature (n=27). Additionally, 20 age-related controls were studied. Mean ages were 8.3 (TS), 7.1 (GHD), 6.9 (SGA) and 8.5 years (controls). Mean heights were -2.90 (TS), -3.32 (GHD), -3.69 (SGA) and -0.03 standard deviation scores (SDS) (controls). FFM was measured by bioelectrical impedance analysis (BIA). At the start of GH girls with TS showed insignificantly higher REE per FFM (REE/FFM) (mean±SD; 65±9 kcal/kg×day) than did the other female patients (62±9 kcal/kg×day) (p>0.23). The healthy controls had significantly lower REE/FFM (35±4 kcal/kg×day) (p<0.001). Follow-up examination of the patients after 6 or 12 months revealed decreasing REE/FFM in TS (62±9 kcal/kg×day) resulting in comparable REE/FFM in all three patient groups. At baseline short girls with TS had insignificantly higher REE/FFM than short children with SGA or GHD, but in follow-up this difference was not detectable any more. Future studies are necessary to understand this observation.

  9. Clinical care of adult Turner syndrome--new aspects.

    Science.gov (United States)

    Trolle, Christian; Mortensen, Kristian Havmand; Hjerrild, Britta E; Cleemann, Line; Gravholt, Claus H

    2012-05-01

    Turner syndrome (TS) is characterized by numerous medical challenges during adolescence and adulthood. Puberty has to be induced in most cases, and female sex hormone replacement therapy (HRT) should continue during adult years. These issues are normally dealt with by the paediatrician, but once a TS female enters adulthood it is less clear who should be the primary care giver. Morbidity and mortality is increased, especially due to the risk of dissection of the aorta and other cardiovascular diseases, as well as the risk of type 2 diabetes, hypertension, osteoporosis, thyroid disease and other diseases. The proper dose of HRT with female sex steroids has not been established, and, likewise, benefits and/or drawbacks from HRT have not been thoroughly evaluated. The transition period from paediatric to adult care seems to be especially vulnerable and the proper framework for transition has not yet been established. Likewise, no framework is in place for continuous follow-up during adult years in many countries. Today, most treatment recommendations are based on expert opinion and are unfortunately not evidence based, although more areas, such as growth hormone and oxandrolone treatment for increasing height, are becoming well founded. Osteoporosis, diabetes, both type 1 and 2, hypothyroidism, obesity and a host of other endocrine diseases and conditions are seen more frequently in TS. Prevention, intervention and proper treatment is only just being recognized. Hypertension is frequent and can be a forerunner of cardiovascular disease. The description of adult life with TS has been broadened and medical, social and psychological aspects are being added at a compelling pace. Proper care during adulthood should be studied and a framework for care should be in place, since most morbidity potentially is amenable to intervention. In summary, TS is a condition associated with a number of diseases and conditions which need the attention of a multi-disciplinary team during

  10. Fertility Preservation in Women with Turner Syndrome: A Comprehensive Review and Practical Guidelines.

    Science.gov (United States)

    Oktay, Kutluk; Bedoschi, Giuliano; Berkowitz, Karen; Bronson, Richard; Kashani, Banafsheh; McGovern, Peter; Pal, Lubna; Quinn, Gwendolyn; Rubin, Karen

    2016-10-01

    In this article we review the existing fertility preservation options for women diagnosed with Turner syndrome and provide practical guidelines for the practitioner. Turner syndrome is the most common sex chromosome abnormality in women, occurring in approximately 1 in 2500 live births. Women with Turner syndrome are at extremely high risk for primary ovarian insufficiency and infertility. Although approximately 70%-80% have no spontaneous pubertal development and 90% experience primary amenorrhea, the remainder might possess a small residual of ovarian follicles at birth or early childhood. The present challenge is to identify these women as early in life as is possible, to allow them to benefit from a variety of existing fertility preservation options. To maximize the benefits of fertility preservation, all women with Turner syndrome should be evaluated by an expert as soon as possible in childhood because the vast majority will have their ovarian reserve depleted before adulthood. Cryopreservation of mature oocytes and embryos is a proven fertility preservation approach, and cryopreservation of ovarian tissue is a promising technique with a growing number of live births, but remains investigational. Oocyte cryopreservation has been performed in children with Turner syndrome as young as 13 years of age and ovarian tissue cryopreservation in affected prepubertal children. However, current efficacy of these approaches is unknown in this cohort. For those who have already lost their ovarian reserve, oocyte or embryo donation and adoption are strategies that allow fulfillment of the desire for parenting. For those with Turner syndrome-related cardiac contraindications to pregnancy, use of gestational surrogacy allows the possibility of biological parenting using their own oocytes. Alternatively, gestational surrogacy can serve to carry pregnancy resulting from the use of donor oocytes or embryos, if needed. Copyright © 2016 North American Society for Pediatric and

  11. The prevalence of turner syndrome in girls presenting with coarctation of the aorta.

    Science.gov (United States)

    Wong, Sze Choong; Burgess, Trent; Cheung, Michael; Zacharin, Margaret

    2014-02-01

    To determine the prevalence of Turner syndrome in girls presenting with coarctation of the aorta (CoA). A total of 132 girls with known structural CoA was identified. Those girls who had no previous karyotype analysis performed were asked to participate in a research study in which a banded karyotype with 50-cell count was performed. Of 132 girls with CoA, 55 (41.7%) had karyotype analysis within 6 months of cardiac diagnosis. Three girls underwent karyotyping later because of clinical concerns. Of the 74 girls with CoA who had not had a karyotype, 38 (51.4%) consented to the study. Results were available for 37 girls. All were 46,XX. Five patients with Turner syndrome were identified in the 95 girls with CoA who had karyotype analysis (4 from early karyotype and 1 diagnosed later), which translated into a minimum prevalence of 5.3% of Turner syndrome in this group of girls with CoA. In addition, one infant with a 20-cell 46,XX karyotype had features of Turner syndrome. Our study demonstrated for the first time in a large cohort that 5.3% of girls presenting with CoA are found to have Turner syndrome when karyotyping is performed. Given the spectrum of preventable and treatable health problems after the diagnosis of Turner syndrome, we believe that all girls with CoA should have a karyotype analysis, ideally with at least 50-cell count, at the time of diagnosis of CoA. Copyright © 2014 Mosby, Inc. All rights reserved.

  12. Fertility Preservation in Females with Turner Syndrome: A Comprehensive Review and Practical Guidelines

    Science.gov (United States)

    Oktay, K; Bedoschi, G; Berkowitz, K; Bronson, R; Kashani, B; McGovern, P; Pal, L; Quinn, G; Rubin, K

    2016-01-01

    This article reviews the existing fertility preservation options for females diagnosed with Turner syndrome and provides practical guidelines for the practitioner. Turner syndrome is the most common sex chromosome abnormality in females, occurring in approximately one in 2500 live births. Women with Turner syndrome are at extremely high risk for primary ovarian insufficiency (POI) and infertility. Although about 70–80% have no spontaneous pubertal development and 90% experience primary amenorrhea, the remainder may possess a small residual of ovarian follicles at birth or early childhood. The present challenge is to identify these women as early in life as is possible, so as to allow them to benefit from a variety of existing fertility preservation options. To maximize the benefits of fertility preservation, all women with Turner syndrome should be evaluated by an expert as soon as possible in childhood as the vast majority will have their ovarian reserve depleted before adulthood. Cryopreservation of mature oocytes and embryos is a proven fertility preservation approach, while cryopreservation of ovarian tissue is a promising technique with a growing number of live births, but remain investigational. Oocyte cryopreservation has been performed in children with Turner syndrome as young as 13 and ovarian tissue cryopreservation in prepubertal children affected. However, current efficacy of these approaches is unknown in this cohort.. For those who have already lost their ovarian reserve, oocyte or embryo donation and adoption are strategies that allow fulfillment of desire for parenting. For those with Turner syndrome related cardiac contraindications to pregnancy, utilization of gestational surrogacy allows the possibility of biological parenting by using their own oocytes. Alternatively, gestational surrogacy can serve to carry pregnancy resulting from the use of donor oocytes or embryos, if needed. PMID:26485320

  13. Horseshoe kidney with growth retardation: Don't forget Turner syndrome.

    Science.gov (United States)

    Arslansoyu-Çamlar, Seçil; Soylu, Alper; Abacı, Ayhan; Türkmen, Mehmet Atilla; Ülgenalp, Ayfer; Kavukçu, Salih

    2016-01-01

    Horseshoe kidney is the most frequent renal fusion anomaly that is usually asymptomatic and isolated malformation. However it can be seen with various syndromes and chromosomal anomalies. It was reported that 15-35% of Turner syndrome cases (TS) also display horseshoe kidney condition. TS is a chromosomal anomaly that had been characterized by delayed puberty, short body height and gonadal dysgenesis. In this report a five-year-old girl with horseshoe kidney, which has growth retardation during follow-up as only symptom of Turner syndrome.

  14. Cardiovascular and renal anomalies in Turner syndrome Anomalias cardiovasculares e renais na síndrome de Turner

    Directory of Open Access Journals (Sweden)

    Annelise Barreto Carvalho

    2010-01-01

    Full Text Available OBJECTIVE: To evaluate the frequency and type of cardiovascular (CV and renal/collecting system (R/CS abnormalities seen in a sample of patients with Turner Syndrome (TS and to verify the proportion of those anomalies detected only after diagnosis was established. METHODS: Retrospective study of 130 patients with TS diagnosed in an outpatient setting between 1989 and 2006. The mean age at diagnosis was 11.9 years. Data were obtained by personal history of CV and R/CS disorders and by results of echocardiogram and ultrasonography of the kidneys and collecting system performed after diagnosis. RESULTS: 25.6% of patients who underwent echocardiograms presented CV abnormalities. Among them, mitral regurgitation (21.4%, bicuspid aortic valve (19% and aortic coarctation (19% were the most frequent. R/CS anomalies were found in 29.3% of patients who underwent ultrasonography. Among them, duplication of the collecting system and hydronephrosis (25% each and horseshoe kidney (21.2% were the most frequent. In about 80% of cases there was no previous knowledge of these anomalies. CONCLUSION: The frequency of CV and R/CS abnormalities found in this study was similar to that of previous studies, but most were found in routine exams after TS diagnosis. Thus, early detection of associated anomalies depends on early detection of TS.OBJETIVO: Analisar a frequência e os tipos de anomalias cardiovasculares (CV e de anomalias renais ou de sistema coletor (R/SC em uma amostra de pacientes com síndrome de Turner (ST e verificar a proporção dessas anomalias que só foram detectadas após o estabelecimento do diagnóstico. MÉTODOS: Estudo retrospectivo de 130 pacientes com ST diagnosticadas em serviço ambulatorial entre 1989 e 2006. A média de idade ao diagnóstico foi 11,9 anos. Foram coletados dados sobre antecedentes pessoais de anomalias CV e R/SC e resultados de ecocardiograma e ultrassonografia de rins e vias urinárias realizados após o diagn

  15. Social and environmental impacts of the James Bay hydroelectric project

    International Nuclear Information System (INIS)

    Hornig, J.F.

    1999-01-01

    The book, which is an analysis and not an advocacy, examines the anatomy of the controversy that has swirled around the James Bay project - the La Grande and Great Whale projects combined - from the 1970s to the 1990s, and seeks, in the process, to determine whether there are lessons that can be learned from such an analysis that are applicable to other cases as well as to James Bay itself. The contributors are interested, at one and the same time, in finding ways to integrate the knowledge of natural scientists and social scientists to deepen the understanding of human/environment relations and to link science and policy to encourage a productive dialogue between practitioners and scholars in this increasingly important area of inquiry. The contributor's papers include the following: introduction to the issues; hydroelectric power development at James Bay: establishing a frame of reference; James Bay: environmental considerations for building large hydroelectric dams and reservoirs in Quebec; elevated mercury in fish as a result of the James Bay hydroelectric power development: perception and reality; the Cree people of James Bay: assessing the social impacts of hydroelectric dams and reservoirs; culture, social change, and Cree opposition to the James Bay hydroelectric development; and the impact of James Bay hydroelectric development on the art and craft of the James Bay Cree. The authors of the volume have attempted to stand back and examine just a few of these issues from the perspective of a variety of disciplines, and their purpose is to inform and stimulate thoughtful consideration by providing an overall perspective that might might serve to broaden the context in which specific issues can be debated. refs., 3 tabs., 5 figs

  16. James Joyce's Ulysses: The Search for Value

    Directory of Open Access Journals (Sweden)

    Aouda Aljohani

    2014-01-01

    Full Text Available Two chapters, "Scylla and Charybdis" and "Penelope," in James Joyce's Ulysses are crucial to an understanding of the novel as a whole. "Scylla and Charybdis" stands midway in the novel, the ninth of eighteen chapters, and is designed to serve as a kind of exegesis of the writer's methods and intentions. An analysis of that chapter helps to explain the meaning of the controversial final chapter, "Penelope," and to clarify its thematic and stylistic relation to the text as a whole. Ulysses is the story of a quest, actually of many quests that all coalesce into a single goal: the search for value in a modern world that is somehow diminished and constructed in comparison with the Homeric world where mortals strode the universe in company with gods and goddesses. How, in this dwarfed setting, can men and women redefine heroism in secular humanistic terms relevant to twentieth-century life? Almost by definition a quest narrative culminates in the attainment of the goal or in the potential for its attainment; Joyce's Ulysses affirms this possibility in "Penelope."

  17. James Moores Ball: Ophthalmologist, medical historian, bibliophile.

    Science.gov (United States)

    Feibel, Robert M

    2016-08-01

    James Moores Ball (1862-1929) was an ophthalmologist in St. Louis, Missouri, who excelled as a medical historian and collector of rare and historic books about the history of anatomy. During his lifetime, he was best known as the author of a comprehensive, authoritative, and popular textbook titled Modern Ophthalmology First published in 1904, there were five further editions. Ball was very interested in the history of anatomy and wrote two books on this subject, the first being a biography of Andreas Vesalius, one of the earliest in English, and the second a history of the resurrection men or grave robbers who sold corpses to professors of anatomy and surgery for teaching purposes. His legacy today is the 470 volumes of his personal library, which are now in the Archives and Rare Books department of the Becker Medical Library of the Washington University School of Medicine. These texts are one of their major collections, concentrating on the history of anatomy, beginning with a first edition of Vesalius's De Humani Corporis Fabrica and holding many important and beautiful landmark volumes of anatomical atlases. © The Author(s) 2016.

  18. The James Webb Space Telescope Mission

    Science.gov (United States)

    Sonneborn, George

    2010-01-01

    The James Webb Space Telescope (JWST) is a large aperture, cryogenic, infrared-optimized space observatory under development by NASA for launch in 2014. The European and Canadian Space Agencies are mission partners. JWST will find and study the first galaxies that formed in the early universe, peer through dusty clouds to see AGN environments and stars forming planetary systems at high spatial resolution. The breakthrough capabilities of JWST will enable new studies of star formation and evolution in the Milky Way, including the Galactic Center, nearby galaxies, and the early universe. JWST's instruments are designed to work primarily in the infrared range of 1 - 28 microns, with some capability in the visible. JWST will have a segmented primary mirror, approximately 6.5 meters in diameter, and will be diffraction-limited at wavelength of 2 microns (0.1 arcsec resolution). The JWST observatory will be placed in a L2 orbit by an Ariane 5 launch vehicle provided by ESA. The observatory is designed for a 5-year prime science mission, with propellant for 10 years of science operations. The instruments will provide broad- and narrow-band imaging, coronography, and multi-object and integral-field spectroscopy (spectral resolution of 100 to 3,000) across the 1 - 28 micron wavelength range. Science and mission operations will be conducted from the Space Telescope Science Institute in Baltimore, Maryland.

  19. The "Very Cool" James Webb Space Telescope!

    Science.gov (United States)

    Teague, Peter J. B.

    2018-01-01

    For over twenty years, scientists, engineers, technicians, and other personnel have been working on the next generation space telescope. As a partnership between NASA (National Aeronautics and Space Administration), CSA (Canadian Space Agency), and ESA (European Space Angency), the James Webb Space Telescope will complement the previous research performed by the Hubble by utilizing a larger primary mirror, which will also be optimized for infrared wavelengths. This combination will allow JWST to collect data and take images of light having traveled over 13.7 billion light years. This presentation will focus on the mission, as well as the contamination control challenges during the integration and testing in the NASA Goddard Spacecraft Systems Development and Integration Facility (SSDIF), one of the largest cleanrooms in the world. Additional information will be presented regarding space simulation testing down to a cool 20 degrees Kelvin [-424 degrees Fahrenheit] that will occur at Johnson Space Center in Houston, TX, and more testing and integration to happen at Northrop Grumman Corp., in Redondo Beach, CA. Launch of the JWST is currently scheduled for the spring of 2019 at Ariane Spaceport in French Guiana, South America.

  20. James F. T. Bugental (1915-2008).

    Science.gov (United States)

    Schneider, Kirk J; Greening, Tom

    2009-01-01

    James F. T. Bugental died peacefully at age 92 at his Petaluma, California, home on September 18, 2008. Jim was a leading psychotherapist and a founding father, with Abraham Maslow and others, of humanistic psychology, or the "third force" (in contrast to psychoanalysis and behaviorism). Jim was also the creator, along with Rollo May, of existential-humanistic psychotherapy. Jim was born in Fort Wayne, Indiana, on Christmas Day in 1915. Jim earned his doctorate in 1948 from Ohio State University, where he was influenced by Victor Raimy and George Kelly. After a brief time on the University of California, Los Angeles (UCLA) faculty in psychology, Jim resigned in 1953 to found the first group practice of psychotherapy, Psychological Service Associates, with Alvin Lasko. With Abraham Maslow and others, Jim was a cofounder of the Journal of Humanistic Psychology (JHP) and the Association for Humanistic Psychology in 1961. Jim also wrote many books on the topic of psychotherapy during his lifetime. Jim was a great and bold spirit--his many writings and teachings are cherished today widely, and the field of psychology is much richer for his efforts. 2009 APA, all rights reserved

  1. Watching Time: James Baldwin and Malcolm X

    Directory of Open Access Journals (Sweden)

    Mikko Tuhkanen

    2016-12-01

    Full Text Available Taking its cue from recent scholarly work on the concept of time in African American literature, this essay argues that, while both James Baldwin and Malcolm X refuse gradualism and insist on “the now” as the moment of civil rights’ fulfillment, Baldwin also remains troubled by the narrowness assumed by a life, politics, or ethics limited to the present moment. In his engagement with Malcolm’s life and legacy—most notably in One Day, When I Was Lost, his screen adaptation of Malcolm’s autobiography—he works toward a temporal mode that would be both punctual and expansive. What he proposes as the operative time of chronoethics is an “untimely now”: he seeks to replace Malcolm’s unyielding punctuality with a different nowness, one that rejects both calls for “patience,” endemic to any politics that rests on the Enlightenment notion of “perfectibility,” and the breathless urgency that prevents the subject from seeing anything beyond the oppressive system he wants overthrown. Both thinkers find the promise of such untimeliness in their sojourns beyond the United States.

  2. James Henry Greathead en die Londense Moltrein

    Directory of Open Access Journals (Sweden)

    Laurence Wright

    2017-07-01

    Full Text Available Die artikel ondersoek die oorsprong en vroeë geskiedenis van die toestel genaamd die ‘Greathead Skild’, ‘n belangrike nuwigheid in Viktoriaanse ingenieurwetenskap, wat van deurslaggewende belang was in die konstruksie van die Londense Moltrein. Die doel is om die basis te ontleed waarop, baie jare later, ‘n Suid-Afrikaanse ingenieur wye openbare erkenning in die vorm van ‘n standbeeld vir die ‘ontwerp’ van die Skild geniet het. Uit die perspektief van kulturele studies beskou, hoe moet ons uitvinding verstaan, gegewe dat ander briljante ingenieurs ook betrokke was? Hierdie vraag word ontleed met die gebruik van die konsep ‘extelligence’ (Stewart and Cohen 1997, in samehang met ander kontemporêre en geskiedkundige weergawes, insluitend Greathead se eie rekord van sy prestasies in die verrigtinge van die Instituut van Siviele Ingenieurs en voorgelê in The City and South London Railway (1896, onder redaksie van James Forrest. Hierdie artikel is die eerste keer as referaat aangebied by die konferensie oor ‘Nuuthede en Innovasie in die Negentiende Eeu’ aan die Noordwes-Universiteit, Mei 2016.

  3. A percepção da doença em portadoras da síndrome de Turner Turner syndrome: the patients' view

    Directory of Open Access Journals (Sweden)

    Lígia Z. C. Suzigan

    2004-08-01

    Full Text Available OBJETIVO: Identificar a percepção das pacientes com síndrome de Turner a respeito de sua condição. CASUÍSTICA E MÉTODO: Entrevistas individuais com 36 pacientes com síndrome de Turner entre 15 e 25 anos e mais de 2 anos de acompanhamento, abordando temas referentes ao impacto no momento do diagnóstico, compreensão a respeito da síndrome de Turner, seu impacto sobre a vida atual e expectativas de futuro. RESULTADOS: Apenas 31% compreenderam o diagnóstico de síndrome de Turner imediatamente, e o sentimento associado a esse momento foi freqüentemente neutro (47% ou de preocupação (33%. Cerca de 1/3 das pacientes não soube explicar a etiologia da síndrome de Turner (42%, não relacionou a ela os sintomas que apresenta (36% e/ou acredita haver cura (44%. Atualmente, embora a grande maioria declare que a síndrome de Turner não interfere em sua vida (67% e se considere feliz (78%, em mais da metade dos casos há evidências de dificuldades de interação social e de relacionamento amoroso, baixa auto-estima, insatisfação com a aparência física (em particular a baixa estatura e sofrimento com a questão da esterilidade. Suas expectativas de futuro estão predominantemente ligadas a trabalho e estudo; e mesmo estando com 19 anos, em média, uma em cada duas ainda espera crescer (53%. CONCLUSÃO: Além da abordagem médica da síndrome de Turner, é fundamental que o conhecimento das pacientes a respeito dessa síndrome e as questões referentes à esterilidade, baixa estatura, auto-estima e interações sociais sejam alvo de atenção especial e contínua a partir do momento do diagnóstico; a situação ideal seria a de atuação de um psicólogo juntamente com a equipe médica.OBJECTIVE: To identify how patients with Turner syndrome perceive their condition. METHODS: Thirty-six women with Turner syndrome, aged between 15 and 25 years and with over 2 years of medical follow-up, were individually interviewed about: the impact of

  4. Delayed presentation of turner syndrome: Challenge to optimal management

    Directory of Open Access Journals (Sweden)

    Uma Kaimal Saikia

    2017-01-01

    Full Text Available Background: Turner syndrome (TS is a chromosomal disorder associated with dysmorphic features and comorbidities, with recent trends focusing on early diagnosis for adequate management. Aim: The aim is to study the age and mode of presentation of TS, associated comorbidities and look for any correlation with the genotype. Material and Methods: This was a retrospective analysis of girls with TS attending the endocrinology clinic of a tertiary care center. Their age, mode of presentation, and clinical features were noted. All participants underwent ear examination, echocardiography, and ultrasonography of the abdomen. Laboratory investigations included serum T4, thyroid-stimulating hormone, thyroid peroxidase antibodies, follicle-stimulating hormone, fasting, and 2-h plasma glucose after 75 g glucose load and a karyotype. Simple descriptive statistical methods were used. Results: Seventeen cases of TS were seen with a median age of presentation of 18 years (range 14–42 years. Primary amenorrhea was the most common reason for seeking medical attention (76.4% followed by short stature and diabetes mellitus (11.8% each. The mean height at presentation was 137.5 ± 5.4 cm. Monosomy of X chromosome (45,X was the most common karyotype obtained in 58.8% of the patients, followed by 45,X/46, XX in 17.6%, 45,X/46X,i(X(q10 in 11.8%, and 45,X/47,XXX and 46X,delXp11.2 in 5.9% patients each. Bicuspid aortic valve was seen in two patients having a 45,X/46,XX karyotype. Conclusion: Primary amenorrhea is the most common presenting feature in girls with TS leading to a delayed age of presentation. Short stature and dysmorphic features are often overlooked in infancy and childhood due to socioeconomic factors. This late age of presentation is a cause of concern as early detection and management is important for height outcomes, bone health, and psychosocial support. Assessment of comorbidities becomes important in this setting.

  5. Congenital Hyperinsulinism in Infants with Turner Syndrome: Possible Association with Monosomy X and KDM6A Haploinsufficiency.

    Science.gov (United States)

    Gibson, Christopher E; Boodhansingh, Kara E; Li, Changhong; Conlin, Laura; Chen, Pan; Becker, Susan A; Bhatti, Tricia; Bamba, Vaneeta; Adzick, N Scott; De Leon, Diva D; Ganguly, Arupa; Stanley, Charles A

    2018-06-14

    Previous case reports have suggested a possible association of congenital hyperinsulinism with Turner syndrome. We examined the clinical and molecular features in girls with both congenital hyperinsulinism and Turner syndrome seen at The Children's Hospital of Philadelphia (CHOP) between 1974 and 2017. Records of girls with hyperinsulinism and Turner syndrome were reviewed. Insulin secretion was studied in pancreatic islets and in mouse islets treated with an inhibitor of KDM6A, an X chromosome gene associated with hyperinsulinism in Kabuki syndrome. Hyperinsulinism was diagnosed in 12 girls with Turner syndrome. Six were diazoxide-unresponsive; 3 had pancreatectomies. The incidence of Turner syndrome among CHOP patients with hyperinsulinism (10 of 1,050 from 1997 to 2017) was 48 times more frequent than expected. The only consistent chromosomal anomaly in these girls was the presence of a 45,X cell line. Studies of isolated islets from 1 case showed abnormal elevated cytosolic calcium and heightened sensitivity to amino acid-stimulated insulin release; similar alterations were demonstrated in mouse islets treated with a KDM6A inhibitor. These results demonstrate a higher than expected frequency of Turner syndrome among children with hyperinsulinism. Our data suggest that haploinsufficiency for KDM6A due to mosaic X chromosome monosomy may be responsible for hyperinsulinism in Turner syndrome. © 2018 S. Karger AG, Basel.

  6. Allometric considerations when assessing aortic aneurysms in Turner syndrome: Implications for activity recommendations and medical decision-making.

    Science.gov (United States)

    Corbitt, Holly; Maslen, Cheryl; Prakash, Siddharth; Morris, Shaine A; Silberbach, Michael

    2018-02-01

    In Turner syndrome, the potential to form thoracic aortic aneurysms requires routine patient monitoring. However, the short stature that typically occurs complicates the assessment of severity and risk because the relationship of body size to aortic dimensions is different in Turner syndrome compared to the general population. Three allometric formula have been proposed to adjust aortic dimensions, all employing body surface area: aortic size index, Turner syndrome-specific Z-scores, and Z-scores based on a general pediatric and young adult population. In order to understand the differences between these formula we evaluated the relationship between age and aortic size index and compared Turner syndrome-specific Z-scores and pediatric/young adult based Z-scores in a group of girls and women with Turner syndrome. Our results suggest that the aortic size index is highly age-dependent for those under 15 years; and that Turner-specific Z-scores are significantly lower than Z-scores referenced to the general population. Higher Z-scores derived from the general reference population could result in stigmatization, inappropriate restriction from sports, and increasing the risk of unneeded medical or operative treatments. We propose that when estimating aortic dissection risk clinicians use Turner syndrome-specific Z-score for those under fifteen years of age. © 2017 Wiley Periodicals, Inc.

  7. A New Observing Tool for the James Clerk Maxwell Telescope

    Science.gov (United States)

    Folger, Martin; Bridger, Alan; Dent, Bill; Kelly, Dennis; Adamson, Andy; Economou, Frossie; Hirst, Paul; Jenness, Tim

    A new Observing Tool (OT) has been developed at the UK Astronomy Technology Centre, Edinburgh, UK and the Joint Astronomy Centre, Hilo, Hawaii, USA. It is based on the Gemini Observing Tool and provides the first graphical observation preparation tool for the James Clerk Maxwell Telescope (JCMT) as well as being the first use of the OT for a non-optical/IR telescope. The OT allows the observer to assemble high level Science Programs using graphical representations of observation components such as instrument, target, and filter. This is later translated into low level control sequences for telescope and instruments. The new OT is designed to work on multiple telescopes: currently the UK Infrared Telescope (UKIRT) and JCMT. Object-oriented design makes the inclusion of telescope and instrument specific packages easy. The OT is written in Java using GUI packages such as Swing and JSky. A new component for the JCMT OT is the graphical Frequency Editor for Heterodyne instruments. It can be used to specify parameters such as frequencies, bandwidths, and sidebands of multiple subsystems, while graphically displaying the front-end frequency, emission lines and atmospheric transmission. In addition, Flexible Scheduling support has been added to the OT. The observer can define scheduling constraints by arranging observations graphically. Science Programs can be saved as XML or sent directly from the OT to a database (via SOAP).

  8. An Interdisciplinary Program in Materials Science at James Madison University.

    Science.gov (United States)

    Hughes, Chris

    2008-03-01

    Over the past decade a core group of faculty at James Madison University has created an interdisciplinary program in materials science that provides our students with unique courses and research experiences that augment the existing, high-quality majors in physics and astronomy, chemistry and biochemistry, geology and environmental science, mathematics and statistics, and integrated science and technology. The university started this program by creating a Center for Materials Science whose budget is directly allocated by the provost. This source of funds acts as seed money for research, support for students, and a motivating factor for each of the academic units to support the participation of their faculty in the program. Courses were created at the introductory and intermediate level that are cross-listed by the departments to encourage students to enroll in them as electives toward their majors. Furthermore, the students are encouraged to participate in undergraduate research in materials since this is the most fundamental unifying theme across the disciplines. This talk will cover some of the curricular innovations that went into the design of the program to make it successful, examples of faculty and student research and how that feeds back into the classroom, and success stories of the interactions that have developed between departments because of this program. Student outcomes and future plans to improve the program will also be discussed.

  9. A Scientific Revolution: The Hubble and James Webb Space Telescopes

    Science.gov (United States)

    Gardner, Jonathan P.

    2010-01-01

    Astronomy is going through a scientific revolution, responding to a flood of data from the Hubble Space Telescope, other space missions, and large telescopes on the ground. In this talk, I will discuss some of the important discoveries of the last decade, from dwarf planets in the outer Solar System to the mysterious dark energy that overcomes gravity to accelerate the expansion of the Universe. The next decade will be equally bright with the newly refurbished Hubble and the promise of its successor, the James Webb Space Telescope. An infrared-optimized 6.5m space telescope, Webb is designed to find the first galaxies that formed in the early universe and to peer into the dusty gas clouds where stars and planets are born. With MEMS technology, a deployed primary mirror and a tennis-court sized sunshield, the mission presents many technical challenges. I will describe Webb's scientific goals, its design and recent progress in constructing the observatory. Webb is scheduled for launch in 2014.

  10. Coats' disease, Turner syndrome, and von Willebrand disease in a patient with Wildtype Norrie disease pseudoglioma.

    Science.gov (United States)

    Desai, Rajen U; Saffra, Norman A; Krishna, Rati P; Rosenberg, Steven E

    2011-01-01

    The authors describe a girl diagnosed as having Coats' disease, Turner syndrome (45X karyotype), and type 1 von Willebrand disease. She tested negative for the Norrie disease pseudoglioma (NDP) gene located on the X-chromosome, which has been suspected of contributing to Coats' disease. Copyright 2010, SLACK Incorporated.

  11. The Turner Legacy: The Storied Origins and Enduring Impact of White Nationalism’s Deadly Bible

    Directory of Open Access Journals (Sweden)

    J.M. Berger

    2016-09-01

    Full Text Available The Turner Diaries, the infamous racist dystopian novel by neo-Nazi William Luther Pierce, has inspired more than 200 murders since its publication in 1978, including the single deadliest act of domestic terrorism in U.S. history, the Oklahoma City bombing. The book is arguably the most important single work of white nationalist propaganda in the English language, but it is not a singular artifact. The Turner Diaries is part of a genre of racist dystopian propaganda dating back to the U.S. Civil War. This paper will document the books that directly and indirectly inspired Turner and examine the extensive violence that the novel has inspired. By comparing and contrasting The Turner Diaries to its less-remembered predecessors, this paper analyses the reasons for the novel’s lasting impact, including its focus on rational choices over identity choices, its simplification of white nationalist ideology, its repeated calls to action, and the powerfully persuasive nature of dystopian narratives, which can be understood as a secular analogue for religious apocalyptic texts.

  12. Standardized multidisciplinary evaluation yields significant previously undiagnosed morbidity in adult women with Turner syndrome

    NARCIS (Netherlands)

    Freriks, K.; Timmermans, J.; Beerendonk, C.C.M.; Verhaak, C.M.; Netea-Maier, R.T.; Otten, B.J.; Braat, D.D.M.; Smeets, D.F.C.M.; Kunst, D.; Hermus, A.R.M.M.; Timmers, H.J.L.M.

    2011-01-01

    CONTEXT: Besides short stature and gonadal dysgenesis, Turner syndrome (TS) is associated with various abnormalities. Adults with TS have a reduced life expectancy, mainly related to structural abnormalities of the heart and aorta, and an increased risk of atherosclerosis. OBJECTIVE: Our objective

  13. Does wastewater discharge have relations with increase of Turner syndrome and Down syndrome?

    Directory of Open Access Journals (Sweden)

    Intae Choi

    2017-08-01

    Full Text Available The purpose of this study is to examine whether water and air pollutants have a relationship with an increase in the genetic disorders Turner syndrome and Down syndrome, which are caused by congenital chromosomal abnormalities, and to generate a hypothesis about the genetic health effects of environmental pollutants. A panel regression based on random effect was conducted on Korea’s metropolitan councils from 2012 to 2014. The dependent variable was the number of Turner syndrome and Down syndrome cases, and the main independent variables were those regarding the water and air pollution. Air pollutants did not have a significant impact on the number of Turner syndrome and Down syndrome cases; however, the increase in number of wastewater discharge companies did have a significant relationship with the number of cases. The more the number of wastewater discharge companies, the more the number Turner syndrome and Down syndrome cases were observed. Therefore, scientific investigation on water and air pollutants in relation with genetic health effects needs to be performed.

  14. Wish to conceive and concerns to develop cardiovascular complications during pregnancy in patients with Turner syndrome

    NARCIS (Netherlands)

    van Hagen, Iris M.; Duijnhouwer, Anthonie L.; ten Kate-Booij, Marianne J.; Dykgraaf, Ramon H. M.; Duvekot, Johannes J.; Utens, Elisabeth M. W. J.; Roos-Hesselink, Jolien W.

    2017-01-01

    Turner syndrome (TS) is associated with subfertility and infertility. Nevertheless, an increasing number of women become pregnant through oocyte donation. The wish to conceive may be negatively influenced by the fear of cardiovascular complications. The aim was to investigate the wish to conceive

  15. Long-term hormone replacement therapy preserves bone mineral density in Turner syndrome

    DEFF Research Database (Denmark)

    Cleemann, Line; Hjerrild, Britta E; Lauridsen, Anna L

    2009-01-01

    CONTEXT: Reduced bone mineral density (BMD) and increased risk of fractures are present in many women with Turner syndrome (TS). OBJECTIVE: Examine longitudinal changes in BMD in TS and relate changes to biochemical parameters. DESIGN: Prospective, pragmatic, and observational study. Examinations...

  16. Mathematics Learning Disability in Girls with Turner Syndrome or Fragile X Syndrome

    Science.gov (United States)

    Murphy, Melissa M.; Mazzocco, Michele M. M.; Gerner, Gwendolyn; Henry, Anne E.

    2006-01-01

    Two studies were carried out to examine the persistence (Study 1) and characteristics (Study 2) of mathematics learning disability (MLD) in girls with Turner syndrome or fragile X during the primary school years (ages 5-9 years). In Study 1, the rate of MLD for each syndrome group exceeded the rate observed in a grade-matched comparison group,…

  17. Parsonage-Turner syndrome in a patient with bilateral shoulder pain: A case report.

    Science.gov (United States)

    Ohta, Ryuichi; Shimabukuro, Akira

    2017-11-01

    Objective: Parsonage-Turner syndrome is a peripheral neuropathy characterized by acute onset shoulder pain, myalgia, and sensory disturbances. The present report discusses a rare case of Parsonage-Turner syndrome and highlights the importance of accurate history recording and thorough physical examination for the diagnosis of the disease in rural areas. Patient: A 28-year-old woman presented to our clinic with acute bilateral shoulder pain and difficulty moving her right arm. A diagnosis of Parsonage-Turner syndrome was suspected based on the progression of symptoms, severity of pain, and lack of musculoskeletal inflammation. The diagnosis was confirmed by neurological specialists, and the patient was treated with methylprednisolone, after which her symptoms gradually improved. Discussion: The differential diagnosis of shoulder pain is complicated due to the wide variety of conditions sharing similar symptoms. Accurate history recording and thorough physical examination are required to differentiate among conditions involving the central nerves, peripheral nerves, and nerve plexuses. Conclusion: Although the symptoms of Parsonage-Turner syndrome vary based on disease progression and the location of impairment, proper diagnosis of acute shoulder pain without central neurological symptoms can be achieved in rural areas via thorough examination.

  18. Bicuspid aortic valve morphology and associated cardiovascular abnormalities in fetal Turner syndrome: a pathomorphological study

    NARCIS (Netherlands)

    van Engelen, Klaartje; Bartelings, Margot M.; Gittenberger-de Groot, Adriana C.; Baars, Marieke J. H.; Postma, Alex V.; Bijlsma, Emilia K.; Mulder, Barbara J. M.; Jongbloed, Monique R. M.

    2014-01-01

    Bicuspid aortic valve (BAV) is common in Turner syndrome (TS). In adult TS, 82-95% of BAVs have fusion of the right and left coronary leaflets. Data in fetal stages are scarce. The purpose of this study was to gain insight into aortic valve morphology and associated cardiovascular abnormalities in a

  19. Response to three years of growth hormone therapy in girls with Turner syndrome

    Directory of Open Access Journals (Sweden)

    Hong Kyu Park

    2013-03-01

    Full Text Available PurposeShort stature is the most common finding in patients with Turner syndrome. Improving the final adult height in these patients is a challenge both for the patients and physicians. We investigated the clinical response of patients to growth hormone treatment for height improvement over the period of three years.MethodsReview of medical records from 27 patients with Turner syndrome treated with recombinant human growth hormone for more than 3 years was done. Differences in the changes of height standard deviation scores according to karyotype were measured and factors influencing the height changes were analyzed.ResultsThe response to recombinant human growth hormone was an increase in the height of the subjects to a mean value of 1.1 standard deviation for subjects with Turner syndrome at the end of the 3-year treatment. The height increment in the first year was highest. The height standard deviation score in the third year was negatively correlated with the age at the beginning of the recombinant human growth hormone treatment. Different karyotypes in subjects did not seem to affect the height changes.ConclusionEarly growth hormone administration in subjects with Turner syndrome is helpful to improve height response to the treatment.

  20. PSYCHOSOCIAL EFFECTS OF 2 YEARS OF HUMAN GROWTH-HORMONE TREATMENT IN TURNER SYNDROME

    NARCIS (Netherlands)

    SLIJPER, FME; SINNEMA, G; AKKERHUIS, GW; BRUGMANBOEZEMAN, A; FEENSTRA, J; DENHARTOG, L; HEUVEL, F

    1993-01-01

    Thirty-eight girls with Turner syndrome were treated for 2 years with human growth hormone. Both parents and patients carried out assessments of the effects of treatment on various aspects of psychosocial functioning. The children used the Piers-Harris Self-Concept Scale and the Social Anxiety Scale

  1. Comparison of Visual-Spatial Performance Strategy Training in Children with Turner Syndrome and Learning Disabilities.

    Science.gov (United States)

    Williams, Janet K.; And Others

    1992-01-01

    Thirteen females with Turner syndrome, 13 females with nonverbal learning disabilities, and 14 males with nonverbal learning disabilities, ages 7-14, were taught via a cognitive behavioral modification approach to verbally mediate a spatial matching task. All three groups showed significant task improvement after the training, with no significant…

  2. Turner Syndrome: Genetic and Hormonal Factors Contributing to a Specific Learning Disability Profile

    Science.gov (United States)

    Rovet, Joanne

    2004-01-01

    Turner Syndrome (TS) is a genetic disorder affecting primarily females. It arises from a loss of X-chromosome material, most usually one of the two X chromosomes. Affected individuals have a number of distinguishing somatic features, including short stature and ovarian dysgenesis. Individuals with TS show a distinct neurocognitive profile…

  3. Whole Body Magnetic Resonance Imaging in the Diagnosis of Parsonage Turner Syndrome

    International Nuclear Information System (INIS)

    Ryan, M.; Twair, A.; Nelson, E.; Brennan, D.; Eustace, S.

    2004-01-01

    Purpose: To describe magnetic resonance imaging (MRI) findings in patients with suspected Parsonage Turner syndrome and to emphasize the value of an additional whole body MR scan to improve specificity of this diagnosis. Material and Methods: Three patients with proven Parsonage Turner syndrome referred for conventional MRI of the shoulder girdle and additional whole body turboSTIR MRI were included for study. Results: In each case, imaging revealed edema in the muscles of the shoulder girdle. Whole body turboSTIR MRI scan confirmed localized unilateral changes in each case improving specificity and confidence in the diagnosis of Parsonage Turner syndrome in each case. Conclusion: Whole body turboSTIR MR imaging is a useful diagnostic tool in the evaluation of patients with suspected Parsonage Turner syndrome. Inclusion of the brain, neck, brachial plexus, and extremity musculature at whole body imaging allows differentiation from polymyositis and elimination of additional causes of shoulder girdle pain and weakness including gross lesions in the brain, neck, and brachial plexus by a single non-invasive study

  4. Noonan syndrome and Turner syndrome patients respond similarly to 4 years' growth-hormone therapy

    DEFF Research Database (Denmark)

    Lee, Peter A; Ross, Judith L; Pedersen, Birgitte Tønnes

    2015-01-01

    BACKGROUND: Turner syndrome (TS) and Noonan syndrome (NS) are distinct syndromes associated with short stature and other similar phenotypic features. We compared the responses to growth hormone (GH) therapy of TS and NS patients enrolled in the NordiNet® International Outcome Study (IOS...

  5. Social Functioning among Girls with Fragile X or Turner Syndrome and Their Sisters.

    Science.gov (United States)

    Mazzocco, Michele M. M.; Baumgardner, Thomas; Freund, Lisa S.; Reiss, Allan L.

    1998-01-01

    Social behaviors among girls (ages 6-16) with fragile X (n=8) or Turner syndrome (n=9) were examined to address the role of family environment versus biological determinants of social dysfunction. Compared to their sisters, subjects had lower IQS and higher rating of social and attention problems. (Author/CR)

  6. Moyamoya disease associated with asymptomatic mosaic Turner syndrome: a rare cause of hemorrhagic stroke.

    Science.gov (United States)

    Manjila, Sunil; Miller, Benjamin R; Rao-Frisch, Anitha; Otvos, Balint; Mitchell, Anna; Bambakidis, Nicholas C; De Georgia, Michael A

    2014-01-01

    Moyamoya disease is a rare cerebrovascular anomaly involving the intracranial carotid arteries that can present clinically with either ischemic or hemorrhagic disease. Moyamoya syndrome, indistinguishable from moyamoya disease at presentation, is associated with multiple clinical conditions including neurofibromatosis type 1, autoimmune disease, prior radiation therapy, Down syndrome, and Turner syndrome. We present the first reported case of an adult patient with previously unrecognized mosaic Turner syndrome with acute subarachnoid and intracerebral hemorrhage as the initial manifestation of moyamoya syndrome. A 52-year-old woman was admitted with a subarachnoid hemorrhage with associated flame-shaped intracerebral hemorrhage in the left frontal lobe. Physical examination revealed short stature, pectus excavatum, small fingers, micrognathia, and mild facial dysmorphism. Cerebral angiography showed features consistent with bilateral moyamoya disease, aberrant intrathoracic vessels, and an unruptured 4-mm right superior hypophyseal aneurysm. Genetic analysis confirmed a diagnosis of mosaic Turner syndrome. Our case report is the first documented presentation of adult moyamoya syndrome with subarachnoid and intracerebral hemorrhage as the initial presentation of mosaic Turner syndrome. It illustrates the utility of genetic evaluation in patients with cerebrovascular disease and dysmorphism. Copyright © 2014 National Stroke Association. Published by Elsevier Inc. All rights reserved.

  7. Normal tempo of bone formation in Turner syndrome despite signs of accelerated bone resorption

    DEFF Research Database (Denmark)

    Cleemann, Line Hartvig; Holm, Kirsten Bagge; Kobbernagel, Hanne

    2011-01-01

    Aims: To evaluate area bone mineral density (aBMD) and volumetric BMD (vBMD) by dual-energy X-ray absorptiometry, and relations to bone markers and hormones in adolescent women with Turner syndrome (TS). Methods: Cross-sectional study in TS patients (n = 37, 16.7 ± 3.4 years) and control group (n...

  8. Behavioral Assessment of Social Anxiety in Females with Turner or Fragile X Syndrome.

    Science.gov (United States)

    Lesniak-Karpiak, Katarzyna; Mazzocco, Michele M. M.; Ross, Judith L.

    2003-01-01

    This study compared 29 females with Turner syndrome and 21 females with fragile X syndrome (ages 6-22) on a videotaped role-play interaction with 34 females in a comparison group. Three of eight behavioral measures of social skills differentiated the participant groups. Fragile-X subjects required more time to initiate interactions and Turner…

  9. Magnetic resonance imaging 4-D flow-based analysis of aortic hemodynamics in Turner syndrome.

    Science.gov (United States)

    Arnold, Raoul; Neu, Marie; Hirtler, Daniel; Gimpel, Charlotte; Markl, Michael; Geiger, Julia

    2017-04-01

    Cardiovascular surveillance is important in Turner syndrome because of the increased risk of aortic dilation and dissection with consecutively increased mortality. To compare 4-D flow MRI for the characterization of aortic 3-D flow patterns, dimensions and vessel wall parameters in pediatric patients with Turner syndrome and age-matched controls. We performed 4-D flow MRI measuring in vivo 3-D blood flow with coverage of the thoracic aorta in 25 patients with Turner syndrome and in 16 female healthy controls (age mean ± standard deviation were 16 ± 5 years and 17 ± 4 years, respectively). Blood flow was visualized by time-resolved 3-D path lines. Visual grading of aortic flow in terms of helices and vortices was performed by two independent observers. Quantitative analysis included measurement of aortic diameters, quantification of peak systolic wall shear stress, pulsatility index and oscillatory shear index at eight defined sites. Patients with Turner syndrome had significantly larger aortic diameters normalized to BSA, increased vortices in the ascending aorta and elevated helix flow in the ascending and descending aorta compared to controls (all PTurner patients compared to controls (p=0.02, p=0.002 and p=0.01 respectively). Four-dimensional flow MRI provides new insights into the altered aortic hemodynamics and wall shear stress that could have an impact on the development of aortic dissections.

  10. Cytogenetics findings at Turner Syndrome and their correlation with clinical findings

    Directory of Open Access Journals (Sweden)

    Amra Ćatović

    2005-08-01

    Full Text Available Turner Syndrome is a genetic condition in females that results from an abnormal chromosome. One of the X chromosomes is missing or misshapen in the most cells of the body. Three classics clinical symptoms of the syndrome are: incomplete sexual maturation, short stature and pterygium colli. Turner Syndrome is diagnosed by karyotyping. In the retrospective study for a twelve years period (1991-2002 correlation between clinical and cytogenetics findings was established in our Center among 47 examinees from all parts of Federation of Bosnia and Herzegovina, who had suspect clinical diagnosis of Turner Syndrome. The syndrome was demonstrated by cytogeneticsexaminations in 30(63,8% examinees and excluded in 17 (36,2% examinees. The most frequent karyotype is monosomy of X chromosome (45,X found at 63,3%, than isochromosome of Xq (46,XisoXq found at 16,7%, mosaic form (46,XX/45,X and deletion of Xp (46,XdelXp both at 6,7%, than deletion of Xq (46,XdelXq and ring of Xp (46,XX/46,XringXp both at 3,3%. Our results suggest that promptly and exactly diagnosis of Turner syndrome is very important due to introducing growth hormone therapy and estrogen therapy at a very young age.

  11. [Origin and morphological features of small supernumerary marker chromosomes in Turner syndrome].

    Science.gov (United States)

    Liu, Nan; Tong, Tong; Chen, Yue; Chen, Yanling; Cai, Chunquan

    2018-02-10

    OBJECTIVE To explore the origin and morphological features of small supernumerary marker chromosomes (sSMCs) in Turner syndrome. METHODS For 5 cases of Turner syndrome with a sSMC identified by conventional G-banding, dual-color fluorescence in situ hybridization (FISH) was applied to explore their origin and morphological features. RESULTS Among the 5 cases, 3 have derived from the X chromosome, which included 2 ring chromosomes and 1 centric minute. For the 2 sSMCs derived from the Y chromosome, 1 was ring or isodicentric chromosome, while the other was an isodicentric chromosome. CONCLUSION The sSMCs found in Turner syndrome have almost all derived from sex chromosomes. The majority of sSMCs derived from the X chromosome will form ring chromosomes, while a minority will form centric minute. While most sSMC derived from Y chromosome may exist as isodicentric chromosomes, and a small number may exist as rings. For Turner syndrome patients with sSMCs, dual-color FISH may be used to delineate their origins to facilitate genetic counseling and selection of clinical regime.

  12. A Turner Syndrome Patient Carrying a Mosaic Distal X Chromosome Marker

    Directory of Open Access Journals (Sweden)

    Roberto L. P. Mazzaschi

    2014-01-01

    Full Text Available A skin sample from a 17-year-old female was received for routine karyotyping with a set of clinical features including clonic seizures, cardiomyopathy, hepatic adenomas, and skeletal dysplasia. Conventional karyotyping revealed a mosaic Turner syndrome karyotype with a cell line containing a small marker of X chromosome origin. This was later confirmed on peripheral blood cultures by conventional G-banding, fluorescence in situ hybridisation and microarray analysis. Similar Turner mosaic marker chromosome cases have been previously reported in the literature, with a variable phenotype ranging from the mild “classic” Turner syndrome to anencephaly, agenesis of the corpus callosum, complex heart malformation, and syndactyly of the fingers and toes. This case report has a phenotype that is largely discordant with previously published cases as it lies at the severe end of the Turner variant phenotype scale. The observed cytogenetic abnormalities in this study may represent a coincidental finding, but we cannot exclude the possibility that the marker has a nonfunctioning X chromosome inactivation locus, leading to functional disomy of those genes carried by the marker.

  13. Disproportional geometry of the proximal femur in patients with Turner syndrome - a cross-sectional study

    DEFF Research Database (Denmark)

    Nissen, N.; Gravholt, Claus Højbjerg; Abrahamsen, Bo

    2007-01-01

    OBJECTIVE: Patients with Turner syndrome (TS) have altered growth and increased risk of osteoporosis due to oestrogen deficiency and possibly a host of other factors. Thus, TS patients have a 4.9-fold increased risk of femoral neck fractures. Most patients are treated with oestrogen during puberty...

  14. Ocular Motor Indicators of Executive Dysfunction in Fragile X and Turner Syndromes

    Science.gov (United States)

    Lasker, Adrian G.; Mazzocco, Michele M. M.; Zee, David S.

    2007-01-01

    Fragile X and Turner syndromes are two X-chromosome-related disorders associated with executive function and visual spatial deficits. In the present study, we used ocular motor paradigms to examine evidence that disruption to different neurological pathways underlies these deficits. We tested 17 females with fragile X, 19 females with Turner…

  15. Does wastewater discharge have relations with increase of Turner syndrome and Down syndrome?

    Science.gov (United States)

    Choi, Intae

    2017-01-01

    The purpose of this study is to examine whether water and air pollutants have a relationship with an increase in the genetic disorders Turner syndrome and Down syndrome, which are caused by congenital chromosomal abnormalities, and to generate a hypothesis about the genetic health effects of environmental pollutants. A panel regression based on random effect was conducted on Korea's metropolitan councils from 2012 to 2014. The dependent variable was the number of Turner syndrome and Down syndrome cases, and the main independent variables were those regarding the water and air pollution. Air pollutants did not have a significant impact on the number of Turner syndrome and Down syndrome cases; however, the increase in number of wastewater discharge companies did have a significant relationship with the number of cases. The more the number of wastewater discharge companies, the more the number Turner syndrome and Down syndrome cases were observed. Therefore, scientific investigation on water and air pollutants in relation with genetic health effects needs to be performed.

  16. Normal Tempo of Bone Formation in Turner Syndrome despite Signs of Accelerated Bone Resorption

    DEFF Research Database (Denmark)

    Cleemann, Line; Holm, Kirsten; Kobbernagel, Hanne

    2011-01-01

    Aims: To evaluate area bone mineral density (aBMD) and volumetric BMD (vBMD) by dual-energy X-ray absorptiometry, and relations to bone markers and hormones in adolescent women with Turner syndrome (TS). Methods: Cross-sectional study in TS patients (n = 37, 16.7 ± 3.4 years) and control group (n...

  17. [Prevalence of Y-chromosome sequences and gonadoblastoma in Turner syndrome].

    Science.gov (United States)

    de Marqui, Alessandra Bernadete Trovó; da Silva-Grecco, Roseane Lopes; Balarin, Marly Aparecida Spadotto

    2016-01-01

    To assess the prevalence of Y-chromosome sequences and gonadoblastoma in patients with Turner syndrome using molecular techniques. A literature search was performed in Pubmed, limiting the period of time to the years 2005 to 2014 and using the descriptors: Turner syndrome and Y sequences (n=26), and Turner syndrome and Y-chromosome material (n=27). The inclusion criteria were: articles directly related to the subject and published in English or Portuguese. Articles which did not meet these criteria and review articles were excluded. After applying these criteria, 14 papers were left. the main results regarding the prevalence of Y-chromosome sequences in Turner syndrome were: 1-about 60% of the studies were conducted by Brazilian researchers; 2-the prevalence varied from 4.6 to 60%; 3-the most frequently investigated genes were SRY, DYZ3 and TSPY; 4-seven studies used only PCR, while in the remaining seven it was associated with FISH. Nine of the 14 studies reported gonadectomy and gonadoblastoma. The highest prevalence of gonadoblastoma (33%) was found in two studies. In five out of the nine papers evaluated the prevalence of gonadoblastoma was 10 to 25%; in two of them it was zero. according to these data, molecular analysis to detect Y-chromosome sequences in TS patients is indicated, regardless of their karyotype. In patients who test positive for these sequences, gonadoblastoma needs to be investigated. Copyright © 2015 Sociedade de Pediatria de São Paulo. Publicado por Elsevier Editora Ltda. All rights reserved.

  18. Aortic dimensions in girls and young women with turner syndrome: a magnetic resonance imaging study

    DEFF Research Database (Denmark)

    Cleemann, Line; Mortensen, Kristian H; Holm, Kirsten

    2010-01-01

    This study aimed to determine the dimensions of the thoracic aorta and the predictors of aortic dimensions in girls and young women with Turner syndrome (TS). A cross-sectional study was performed at a secondary care center. The study compared 41 TS patients with 50 healthy age-matched control...

  19. Mathematics Learning Disabilities in Girls with Fragile X or Turner Syndrome during Late Elementary School

    Science.gov (United States)

    Murphy, Melissa M.; Mazzocco, Michele M. M.

    2008-01-01

    The present study focuses on math and related skills among 32 girls with fragile X (n = 14) or Turner (n = 18) syndrome during late elementary school. Performance in each syndrome group was assessed relative to Full Scale IQ-matched comparison groups of girls from the general population (n = 32 and n = 89 for fragile X syndrome and Turner…

  20. Long-term effects of previous oxandrolone treatment in adult women with Turner syndrome

    NARCIS (Netherlands)

    Freriks, K.; Sas, T.C.J.; Traas, M.A.F.; Netea-Maier, R.T.; Heijer, M. den; Hermus, A.R.M.M.; Wit, J.M.; Alfen-van der Velden, J. van; Otten, B.J.; Muinck Keizer-Schrama, S.M.P.F. de; Gotthardt, M.; Dejonckere, P.H.; Zandwijken, G.R.; Menke, L.A.; Timmers, H.J.L.M.

    2013-01-01

    OBJECTIVE: Short stature is a prominent feature of Turner syndrome (TS), which is partially overcome by GH treatment. We have previously reported the results of a trial on the effect of oxandrolone (Ox) in girls with TS. Ox in a dose of 0.03 mg/kg per day (Ox 0.03) significantly increased adult

  1. Efficacy and Safety of Oxandrolone in Growth Hormone-Treated Girls with Turner Syndrome

    NARCIS (Netherlands)

    Menke, Leonie A.; Sas, Theo C. J.; de Muinck Keizer-Schrama, Sabine M. P. F.; Zandwijken, Gladys R. J.; de Ridder, Maria A. J.; Odink, Roelof J.; Jansen, Maarten; Delemarre-van de Waal, Henriëtte A.; Stokvis-Brantsma, Wilhelmina H.; Waelkens, Johan J.; Westerlaken, Ciska; Reeser, H. Maarten; Paul van Trotsenburg, A. S.; Gevers, Evelien F.; van Buuren, Stef; Dejonckere, Philippe H.; Hokken-Koelega, Anita C. S.; Otten, Barto J.; Wit, Jan M.

    2010-01-01

    Context and Objective: GH therapy increases growth and adult height in Turner syndrome (TS). The benefit to risk ratio of adding the weak androgen oxandrolone (Ox) to GH is unclear. Design and Participants: A randomized, placebo-controlled, double-blind, dose-response study was performed in 10

  2. Efficacy and safety of oxandrolone in growth hormone-treated girls with turner syndrome

    NARCIS (Netherlands)

    L.A. Menke (Leonie); T.C.J. Sas (Theo); S.M.P.F. de Muinck Keizer-Schrama (Sabine); G.R.J. Zandwijken (Gladys); M.A.J. de Ridder (Maria); R.J.H. Odink (Roelof); M. Jansen (Maarten); H.A. de Delemarre-van Waal (Henriëtte); W.H. Stokvis-Brantsma; J.J.J. Waelkens (Johan); C. Westerlaken (Ciska); H.M. Reeser (Maarten); A.S.P. van Trotsenburg (Paul); E.F. Gevers (Evelien); S. van Buuren (Stef); P.H. Dejonckere (Philippe); A.C.S. Hokken-Koelega (Anita); B.J. Otten (Barto); J.M. Wit (Jan)

    2010-01-01

    textabstractContext and Objective: GH therapy increases growth and adult height in Turner syndrome (TS). The benefit to risk ratio of adding the weak androgen oxandrolone (Ox) to GH is unclear. Design and Participants: A randomized, placebo-controlled, double-blind, dose-response study was performed

  3. Efficacy and safety of oxandrolone in growth hormone-treated girls with turner syndrome

    NARCIS (Netherlands)

    Menke, L.A.; Sas, T.C.J.; Muinck Keizer de - Schrama, S.M.P.F.; Zandwijken, G.R.J.; Ridder, M.A.J. de; Odink, R.J.; Jansen, M.; Delemarre de - Waal, H.A. van; Stokvis-Brantsma, W.H.; Waelkens, J.J.; Westerlaken, C.; Reeser, H.M.; Trotsenburg, A.S.P. van; Gevers, E.F.; Buuren, S. van; Dejonckere, P.H.; Hokken-Koelega, A.C.S.; Otten, B.J.; Wit, J.M.

    2010-01-01

    Context and Objective: GH therapy increases growth and adult height in Turner syndrome (TS). The benefit to risk ratio of adding the weak androgen oxandrolone (Ox) to GH is unclear. Design and Participants: A randomized, placebo-controlled, double-blind, dose-response study was performed in 10

  4. Effect of oxandrolone on glucose metabolism in growth hormone-treated girls with Turner syndrome

    NARCIS (Netherlands)

    Menke, L.A.; Sas, T.C.J.; Stijnen, T.; Zandwijken, G.R.; Muinck Keizer-Schrama, S.M.P.F. de; Otten, B.J.; Wit, J.M.

    2011-01-01

    BACKGROUND: The weak androgen oxandrolone (Ox) may increase height but may also affect glucose metabolism in girls with Turner syndrome (TS). METHODS: In a randomized, placebo-controlled, double-blind study, we assessed the effect of Ox at a dosage of either 0.06 or 0.03 mg/kg/day on glucose

  5. Long-term effects of previous oxandrolone treatment in adult women with Turner syndrome

    NARCIS (Netherlands)

    K. Freriks (Kim); T.C.J. Sas (Theo); T. Traas (Theo); R.T. Netea-Maier (Romana ); M. den Heijer (Martin); A.R.M.M. Hermus (Ad); J.M. Wit (Jan); J.A.E.M. Van Alfen-van Der Velden (Janiëlle A. E.); B.J. Otten (Barto); S.M.P.F. de Muinck Keizer-Schrama (Sabine); M. Gotthardt (Martin); P.H. Dejonckere (Philippe); G.R.J. Zandwijken (Gladys); L.A. Menke (Leonie); H.J.L.M. Timmers

    2013-01-01

    textabstractObjective: Short stature is a prominent feature of Turner syndrome (TS), which is partially overcome by GH treatment. We have previously reported the results of a trial on the effect of oxandrolone (Ox) in girls with TS. Ox in a dose of 0.03 mg/kg per day (Ox 0.03) significantly

  6. The effect of oxandrolone on voice frequency in growth hormone-treated girls with Turner syndrome

    NARCIS (Netherlands)

    Menke, L.A.; Sas, T.C.J.; Koningsbrugge, S.H. van; Ridder, M.A. de; Zandwijken, G.R.; Boersma, B.; Dejonckere, P.H.; Muinck Keizer-Schrama, S.M.P.F. de; Otten, B.J.; Wit, J.M.

    2011-01-01

    OBJECTIVES/HYPOTHESIS: Oxandrolone (Ox) increases height gain but may also cause voice deepening in growth hormone (GH)-treated girls with Turner syndrome (TS). We assessed the effect of Ox on objective and subjective speaking voice frequency in GH-treated girls with TS. STUDY DESIGN: A multicenter,

  7. Efficacy and Safety of Oxandrolone in Growth Hormone-Treated Girls with Turner Syndrome

    NARCIS (Netherlands)

    Menke, Leonie A.; Sas, Theo C. J.; Keizer-Schrama, Sabine M. P. F. de Muinck; Zandwijken, Gladys R. J.; de Ridder, Maria A. J.; Odink, Roelof J.; Jansen, Maarten; Delemarre-van de Waal, Henriette A.; Stokvis-Brantsma, Wilhelmina H.; Waelkens, Johan J.; Westerlaken, Ciska; Reeser, H. Maarten; van Trotsenburg, A. S. Paul; Gevers, Evelien F.; van Buuren, Stef; DeJonckere, Philippe H.; Hokken-Koelega, Anita C. S.; Otten, Barto J.; Wit, Jan M.

    Context and Objective: GH therapy increases growth and adult height in Turner syndrome (TS). The benefit to risk ratio of adding the weak androgen oxandrolone (Ox) to GH is unclear. Design and Participants: A randomized, placebo-controlled, double-blind, dose-response study was performed in 10

  8. Efficacy and safety of oxandrolone in growth hormone-treated girls with turner syndrome.

    NARCIS (Netherlands)

    Menke, L.A.; Sas, T.C.J.; Muinck Keizer-Schrama, S.M.P.F. de; Zandwijken, G.R.; Ridder, M.A. de; Odink, R.J.; Jansen, M.; Delemarre-van de Waal, H.A.; Stokvis-Brantsma, W.H.; Waelkens, J.J.; Westerlaken, C.; Reeser, H.M.; Trotsenburg, A.S. van; Gevers, E.F.; Buuren, S. van; Dejonckere, P.H.; Hokken-Koelega, A.C.S.; Otten, B.J.; Wit, J.M.

    2010-01-01

    Context and Objective: GH therapy increases growth and adult height in Turner syndrome (TS). The benefit to risk ratio of adding the weak androgen oxandrolone (Ox) to GH is unclear. Design and Participants: A randomized, placebo-controlled, double-blind, dose-response study was performed in 10

  9. Noted astrophysicist Michael S. Turner to Head NSF'S mathematical and physical sciences directorate

    CERN Multimedia

    2003-01-01

    "The National Science Foundation has named celebrated astrophysicist Michael S. Turner of the University of Chicago as Assistant Director for Mathematical and Physical Sciences. He will head a $1 billion directorate that supports research in mathematics, physics, chemistry, materials and astronomy, as well as multidisciplinary programs and education" (1/2 page).

  10. Kuidas kõrgemale ohvitserile ettekannet teha / James Stavridis

    Index Scriptorium Estoniae

    Stavridis, James, 1955-

    2013-01-01

    Endine NATO Euroopa liitlasvägede ülemjuhataja jagab nõuandeid mõjusa ja konstruktiivse ettekande kirjutamiseks ja selle esitlemiseks. Lisatud foto, kus kujutatud James Stavridise autasustamist president Toomas Hendrik Ilvese poolt

  11. NASA 3D Models: James Webb Space Telescope

    Data.gov (United States)

    National Aeronautics and Space Administration — The James Webb Space Telescope (JWST) will be a large infrared telescope with a 6.5-meter primary mirror. The project is working to a 2018 launch date. The JWST will...

  12. Young James Madison: His Character and Civic Values.

    Science.gov (United States)

    Bennett, William J.

    1987-01-01

    Examines the life of James Madison, Founding Father and "theoretic statesman." Focuses specifically on Madison's education and character, his friendship with Thomas Jefferson, and his civic legacy: a selfless devotion to republican government and union. (JDH)

  13. Effect of oxandrolone therapy on adult height in Turner syndrome patients treated with growth hormone: a meta-analysis.

    Science.gov (United States)

    Sheanon, Nicole M; Backeljauw, Philippe F

    2015-01-01

    Turner syndrome is a chromosomal abnormality in which there is complete or partial absence of the X chromosome. Turner syndrome effects 1 in every 2000 live births. Short stature is a cardinal feature of Turner Syndrome and the standard treatment is recombinant human growth hormone. When growth hormone is started at an early age a normal adult height can be achieved. With delayed diagnosis young women with Turner Syndrome may not reach a normal height. Adjuvant therapy with oxandrolone is used but there is no consensus on the optimal timing of treatment, the duration of treatment and the long term adverse effects of treatment. The objective of this review and meta-analysis is to examine the effect of oxandrolone on adult height in growth hormone treated Turner syndrome patients. Eligible trials were identified by a literature search using the terms: Turner syndrome, oxandrolone. The search was limited to English language randomized-controlled trials after 1980. Twenty-six articles were reviewed and four were included in the meta-analysis. A random effects model was used to calculate an effect size and confidence interval. The pooled effect size of 2.0759 (95 % CI 0.0988 to 4.0529) indicates that oxandrolone has a positive effect on adult height in Turner syndrome when combined with growth hormone therapy. In conclusion, the addition of oxandrolone to growth hormone therapy for treatment of short stature in Turner syndrome improves adult height. Further studies are warranted to investigate if there is a subset of Turner syndrome patients that would benefit most from growth hormone plus oxandrolone therapy, and to determine the optimal timing and duration of such therapy.

  14. Association between the degree of mosaicism and the severity of syndrome in Turner mosaics and Klinefelter mosaics.

    Science.gov (United States)

    Sarkar, R; Marimuthu, K M

    1983-12-01

    This study, based on the investigations carried on 82 cases of Turners of which 50 of them were mosaics and 85 cases of Klinefelters of which 70 of them were mosaics, is an attempt to explain the vast range of clinical variations observed in cytogenetically established Turner mosaics (45,X/46,XX) and Klinefelter mosaics (47,XXY/46,XY) in the light of the degree of mosaicism present in them. It was observed that the severity of the syndrome in Turner mosaics and Klinefelter mosaics increased with the relative increase in the abnormal cell line population.

  15. [Clinical manifestation and cytogenetic analysis of 607 patients with Turner syndrome].

    Science.gov (United States)

    Zheng, Jiemei; Liu, Zhiying; Xia, Pei; Lai, Yi; Wei, Yangjun; Liu, Yanyan; Chen, Jiurong; Qin, Li; Xie, Liangyu; Wang, He

    2017-02-10

    To explore the correlation between cytogenetic findings and clinical manifestations of Turner syndrome. 607 cases of cytogenetically diagnosed Turner syndrome, including those with a major manifestation of Turner syndrome, were analyzed with conventional G-banding. Correlation between the karyotypes and clinical features were analyzed. Among the 607 cases, there were 154 cases with monosomy X (25.37%). Mosaicism monosomy X was found in 240 patients (39.54%), which included 194 (80.83%) with a low proportion of 45,X (3 ≤ the number of 45, X ≤5, while the normal cells ≥ 30). Structural X chromosome abnormalities were found in 173 patients (28.50%). A supernumerary marker chromosome was found in 40 cases (6.59%). Most patients with typical manifestations of Turner syndrome were under 11 years of age and whose karyotypes were mainly 45,X. The karyotype of patients between 11 and 18 years old was mainly 45,X, 46,X,i(X)(q10) and mos45,X/46,X,i(X)(q10), which all had primary amenorrhea in addition to the typical clinical manifestations. The karyotype of patients over 18 years of age were mainly mosaicism with a low proportion of 45,X, whom all had primary infertility. 53 patients had a history of pregnancy, which included 48 with non-structural abnormalities of X chromosome and 5 with abnormal structure of X chromosome. Generally, the higher proportion of cells with an abnormal karyotype, the more severe were the clinical symptoms and the earlier clinical recognition. Karyotyping analysis can provide guidance for the early diagnosis of Turner syndrome, especially those with a low proportion of 45,X.

  16. Magnetic resonance imaging 4-D flow-based analysis of aortic hemodynamics in Turner syndrome

    International Nuclear Information System (INIS)

    Arnold, Raoul; Neu, Marie; Hirtler, Daniel; Gimpel, Charlotte; Markl, Michael; Geiger, Julia

    2017-01-01

    Cardiovascular surveillance is important in Turner syndrome because of the increased risk of aortic dilation and dissection with consecutively increased mortality. To compare 4-D flow MRI for the characterization of aortic 3-D flow patterns, dimensions and vessel wall parameters in pediatric patients with Turner syndrome and age-matched controls. We performed 4-D flow MRI measuring in vivo 3-D blood flow with coverage of the thoracic aorta in 25 patients with Turner syndrome and in 16 female healthy controls (age mean ± standard deviation were 16 ± 5 years and 17 ± 4 years, respectively). Blood flow was visualized by time-resolved 3-D path lines. Visual grading of aortic flow in terms of helices and vortices was performed by two independent observers. Quantitative analysis included measurement of aortic diameters, quantification of peak systolic wall shear stress, pulsatility index and oscillatory shear index at eight defined sites. Patients with Turner syndrome had significantly larger aortic diameters normalized to BSA, increased vortices in the ascending aorta and elevated helix flow in the ascending and descending aorta compared to controls (all P<0.03). Patients with abnormal helical or vortical flow in the ascending aorta had significantly larger diameters of the ascending aorta (P<0.03). Peak systolic wall shear stress, pulsatility index and oscillatory shear index were significantly lower in Turner patients compared to controls (p=0.02, p=0.002 and p=0.01 respectively). Four-dimensional flow MRI provides new insights into the altered aortic hemodynamics and wall shear stress that could have an impact on the development of aortic dissections. (orig.)

  17. Magnetic resonance imaging 4-D flow-based analysis of aortic hemodynamics in Turner syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Arnold, Raoul [University Medical Center Heidelberg, Department of Congenital Heart Disease and Pediatric Cardiology, Heidelberg (Germany); Neu, Marie [University Medical Center, Department of Pediatric Hematology/Oncology/Hemostaseology, Mainz (Germany); Hirtler, Daniel [University of Freiburg, Department of Congenital Heart Defects and Pediatric Cardiology, Heart Center, Freiburg im Breisgau (Germany); Gimpel, Charlotte [Center for Pediatrics, Medical Center - University of Freiburg, Department of General Pediatrics, Adolescent Medicine and Neonatology, Freiburg im Breisgau (Germany); Markl, Michael [Northwestern University, Department of Radiology, Feinberg School of Medicine, Chicago, IL (United States); Northwestern University, Department of Biomedical Engineering, McCormick School of Engineering, Chicago, IL (United States); Geiger, Julia [Northwestern University, Department of Radiology, Feinberg School of Medicine, Chicago, IL (United States); University Children' s Hospital, Department of Radiology, Zuerich (Switzerland)

    2017-04-15

    Cardiovascular surveillance is important in Turner syndrome because of the increased risk of aortic dilation and dissection with consecutively increased mortality. To compare 4-D flow MRI for the characterization of aortic 3-D flow patterns, dimensions and vessel wall parameters in pediatric patients with Turner syndrome and age-matched controls. We performed 4-D flow MRI measuring in vivo 3-D blood flow with coverage of the thoracic aorta in 25 patients with Turner syndrome and in 16 female healthy controls (age mean ± standard deviation were 16 ± 5 years and 17 ± 4 years, respectively). Blood flow was visualized by time-resolved 3-D path lines. Visual grading of aortic flow in terms of helices and vortices was performed by two independent observers. Quantitative analysis included measurement of aortic diameters, quantification of peak systolic wall shear stress, pulsatility index and oscillatory shear index at eight defined sites. Patients with Turner syndrome had significantly larger aortic diameters normalized to BSA, increased vortices in the ascending aorta and elevated helix flow in the ascending and descending aorta compared to controls (all P<0.03). Patients with abnormal helical or vortical flow in the ascending aorta had significantly larger diameters of the ascending aorta (P<0.03). Peak systolic wall shear stress, pulsatility index and oscillatory shear index were significantly lower in Turner patients compared to controls (p=0.02, p=0.002 and p=0.01 respectively). Four-dimensional flow MRI provides new insights into the altered aortic hemodynamics and wall shear stress that could have an impact on the development of aortic dissections. (orig.)

  18. James Bay Development Corporation annual report, 1986. Societe de Developpement de la Baie James et entites affiliees rapport annuel, 1986

    Energy Technology Data Exchange (ETDEWEB)

    1986-01-01

    The James Bay Development Corporation is a paragovernmental body whose objective is to promote the development and exploitation of those natural resources, other than hydroelectric, which are found in the James Bay region of Quebec. It also oversees the administration and infrastructure management in the territory. This report reviews the year's activities of the Corporation and its affiliates involved in tourism, native development, mining, and municipal affairs. Most of the report consists of financial statements.

  19. James Webb Telescope's Near Infrared Camera: Making Models, Building Understanding

    Science.gov (United States)

    Lebofsky, Larry A.; McCarthy, D. W.; Higgins, M. L.; Lebofsky, N. R.

    2010-10-01

    The Astronomy Camp for Girl Scout Leaders is a science education program sponsored by NASA's next large space telescope: The James Webb Space Telescope (JWST). The E/PO team for JWST's Near Infrared Camera (NIRCam), in collaboration with the Sahuaro Girl Scout Council, has developed a long-term relationship with adult leaders from all GSUSA Councils that directly benefits troops of all ages, not only in general science education but also specifically in the astronomical and technology concepts relating to JWST. We have been training and equipping these leaders so they can in turn teach young women essential concepts in astronomy, i.e., the night sky environment. We model what astronomers do by engaging trainers in the process of scientific inquiry, and we equip them to host troop-level astronomy-related activities. It is GSUSA's goal to foster girls’ interest and creativity in Science, Technology, Engineering, and Math, creating an environment that encourages their interests early in their lives while creating a safe place for girls to try and fail, and then try again and succeed. To date, we have trained over 158 leaders in 13 camps. These leaders have come from 24 states, DC, Guam, and Japan. While many of the camp activities are related to the "First Light” theme, many of the background activities relate to two of the other JWST and NIRCam themes: "Birth of Stars and Protoplanetary Systems” and "Planetary Systems and the Origin of Life.” The latter includes our own Solar System. Our poster will highlight the Planetary Systems theme: 1. Earth and Moon: Day and Night; Rotation and Revolution. 2. Earth/Moon Comparisons. 3. Size Model: The Diameters of the Planets. 4. Macramé Planetary (Solar) Distance Model. 5.What is a Planet? 6. Planet Sorting Cards. 7. Human Orrery 8. Lookback Time in Our Daily Lives NIRCam E/PO website: http://zeus.as.arizona.edu/ dmccarthy/GSUSA

  20. Obituary: Michael James Ledlow, 1964-2004

    Science.gov (United States)

    Puxley, Philip John; Grashuis, Randon M.

    2004-12-01

    Michael James Ledlow died on 5 June 2004 from a large, unsuspected brain tumor. Since 2000 he had been on the scientific staff of the Gemini Observatory in La Serena, Chile, initially as a Science Fellow and then as a tenure-track astronomer. Michael was born in Bartlesville, Oklahoma on 1 October 1964 to Jerry and Sharon Ledlow. He obtained his Bachelor Degree in astrophysics at the University of Oklahoma in 1987 and attended the University of New Mexico for his graduate work, obtaining his PhD while studying Galaxy Clusters under Frazer Owen in 1994. From 1995-1997 Michael held a postdoctoral position with Jack Burns at New Mexico State University where he used various astronomical facilities including the VLA and Apache Point Observatory to study distant galaxies. From 1998-2000 Michael rejoined the Physics and Astronomy Department at the University of New Mexico where he was a visiting professor until he moved on to Gemini. At the Gemini Observatory, Mike shared in the excitement, hard work and many long days and nights associated with bringing on-line a major new astronomical facility and its instrumentation. Following its commissioning he assisted visiting observers, supported and took data for many more remote users via the queue system, and for each he showed the same care and attention to detail evident in his own research to ensure that all got the best possible data. His research concentrated on the radio and optical properties of galaxy clusters, especially rich Abell clusters such as A2125, on luminous radio galaxies, including the detection of a powerful double radio source in the "wrong sort of galaxy," the spiral system 0313-192, and on EROs (extremely red objects), dusty galaxies barely detectable at optical wavelengths. Michael thoroughly enjoyed living in Chile and enthusiastically immersed himself in the culture of his surroundings. He and his family were actively involved with the International English Spanish Association in La Serena. He had a

  1. Serum LH and FSH Responses to Synthetic LH-RH in Normal Infants, Children and Patients With Turner's Syndrome

    Science.gov (United States)

    Suwa, Seizo; And Others

    1974-01-01

    Effects of luteinizing hormone-releasing hormone (LH-RH) on LH and follicle-stimulating hormone (FSH) release were studied in 26 normal children and six patients (from 1-to 14-years-old) with Turner's syndrome. (Author)

  2. Petroleum possibilities of the James Bay Lowland area: Drilling in the James Bay Lowland

    Energy Technology Data Exchange (ETDEWEB)

    Martison, N W

    1954-12-31

    Interest in the possible occurrence of petroleum and natural gas in the James Bay lowland arises from the presence there of Palaeozoic sedimentary formations resembling those in south-western Ontario. The first part of this report reviews earlier geologic surveys conducted in the lowland and reports results of field work and drill core studies 1946-51. It describes the area`s topography, climate, stratigraphy and palaeontology (Ordovician to Lower Cretaceous, plus Pleistocene and recent glacial deposits), structural geology, and evidence of petroleum. Lists of fossils and correlations are included. The appendices include a list of fossil locations and drill logs. The second part details the drilling programs carried out in the lowland by the Ontario Dept. of Mines, including detailed logs, as well as drilling carried out by some other organisations.

  3. Obituary: James C. Kemp, 1927-1988

    Science.gov (United States)

    Milone, E. F.

    2009-01-01

    James C. Kemp was born in Detroit, Michigan on 9 February 1927, and died in Eugene, Oregon, on 29 March 1988. He went to high school in Mexico City and did undergraduate studies at the University of Michigan and University of California at Berkeley. Kemp was an active observational astronomer, having migrated from earlier interests in Slavic languages, in which he majored, electrical engineering, and physics. He obtained a PhD in electrical engineering at Berkeley in 1960 and did post-doctoral work there with Erwin Hahn on spin resonance. He went to the University of Oregon in 1961 and conducted research in magneto-optics, developing, in the process, a piezo-optical birefringence modulator to measure circular polarization. The modulator is described by Tinbergen (1996). Kemp explored new areas as he measured magnetic fields in the sunspots with polarized infrared light, and developed polarimeters and photometers to study the behavior of such astronomical sources as white dwarfs, the relativistic jets of binary SS 433, the x-ray binary Cyg X-1, and the bright eclipsing binaries Algol and e Aurigae on the 61- and, later, 81-cm telescope at the Pine Mountain Observatory, of which Kemp was director until his death from cancer. His measurement of circularly polarization in the continuum light of the white dwarf GJ 742 (Grw +70∘ 8247, Kemp et al. 1970b) was an important discovery, and through his study of Algol (Kemp et al. 1983; Wilson & Liou 1993), he appears to have been the first to discover the limb polarization in eclipsing binaries predicted by Chandrasekhar (1946ab). Although it has taken twenty years for the BAAS to publish his obituary notice, it is somewhat appropriate that his former student, Gary Henson, who provided much of the background for this article, is involved with a polarimetry team to observe and analyze data from e Aurigae, as it approaches ingress of the next primary minimum beginning summer, 2009. The author acknowledges with gratitude the

  4. X-derived marker chromosome in patient with mosaic Turner syndrome and Dandy-Walker syndrome: a case report

    OpenAIRE

    Telepova, Alena S.; Romanenko, Svetlana A.; Lemskaya, Natalya A.; Maksimova, Yulia V.; Shorina, Asia R.; Yudkin, Dmitry V.

    2017-01-01

    Background Small supernumerary marker chromosomes can be derived from autosomes and sex chromosomes and can accompany chromosome pathologies, such as Turner syndrome. Case presentation Here, we present a case report of a patient with mosaic Turner syndrome and Dandy-Walker syndrome carrying a marker chromosome. We showed the presence of the marker chromosome in 33.8% of blood cells. FISH of the probe derived from the marker chromosome by microdissection revealed that it originated from the ce...

  5. Sustainable development in the Hudson Bay/James Bay bioregion

    International Nuclear Information System (INIS)

    Anon.

    1991-01-01

    An overview is presented of projects planned for the James Bay/Hudson Bay region, and the expected environmental impacts of these projects. The watershed of James Bay and Hudson Bay covers well over one third of Canada, from southern Alberta to central Ontario to Baffin Island, as well as parts of north Dakota and Minnesota in the U.S.A. Hydroelectric power developments that change the timing and rate of flow of fresh water may cause changes in the nature and duration of ice cover, habitats of marine mammals, fish and migratory birds, currents into and out of Hudson Bay/James Bay, seasonal and annual loads of sediments and nutrients to marine ecosystems, and anadromous fish populations. Hydroelectric projects are proposed for the region by Quebec, Ontario and Manitoba. In January 1992, the Canadian Arctic Resources Committee (CARC), the Environmental Committee of Sanikuluaq, and the Rawson Academy of Arctic Science will launch the Hudson Bay/James Bay Bioregion Program, an independent initiative to apply an ecosystem approach to the region. Two main objectives are to provide a comprehensive assessment of the cumulative impacts of human activities on the marine and freshwater ecosystems of the Hudson Bay/James Bay bioregion, and to foster sustainable development by examining and proposing cooperative processes for decision making among governments, developers, aboriginal peoples and other stakeholders. 1 fig

  6. Obituary: James Gilbert Baker, 1914-2005

    Science.gov (United States)

    Baker, Neal Kenton

    2005-12-01

    Dr. James Gilbert Baker, renowned astronomer and optical physicist, died 29 June 2005 at his home in Bedford, New Hampshire at the age of 90. Although his scientific interest was astronomy, his extraordinary ability in optical design led to the creation of hundreds of optical systems that supported astronomy, aerial reconnaissance, instant photography (Polaroid SX70 camera), and the US space programs. He was the recipient of numerous awards for his creative work. He was born in Louisville, Kentucky, on 11 November 1914, the fourth child of Jesse B. Baker and Hattie M. Stallard. After graduating from Louisville DuPont Manual High, he went on to attend the University of Louisville majoring in Mathematics. He became very close to an Astronomy Professor, Dr. Moore, and many times used his telescopes to do nightly observations. While at the university, he built mirrors for his own telescopes and helped form the Louisville Astronomical Society in 1933. At the University of Louisville, he also met his future wife, Elizabeth Katherine Breitenstein of Jefferson County, Kentucky. He received his BA in 1935 at the height of the Depression. He began his graduate work in astronomy at the Harvard College Observatory. After his MA (1936), he was appointed a Junior Fellow (1937-1943) in the Prestigious Harvard Society of Fellows. He received his PhD in 1942 from Harvard in rather an unusual fashion, which is worth retelling. During an Astronomy Department dinner, Dr. Harlow Shapley (the director) asked him to give a talk. According to the "Courier-Journal Magazine", "Dr. Shapley stood up and proclaimed an on-the-spot departmental meeting and asked for a vote on recommending Baker for a Ph.D. on the basis of the 'oral exam' he had just finished. The vote was unanimous." It was at Harvard College Observatory during this first stage of his career that he collaborated with Donald H. Menzel, Lawrence H. Aller, and George H. Shortley on a landmark set of papers on the physical processes

  7. The Scientific Papers of James Clerk Maxwell

    Science.gov (United States)

    Clerk Maxwell, James; Niven, W. D.

    2011-01-01

    homogeneous quadratic functions; 57. On the focal lines of a refracted pencil; 58. An Essay on the mathematical principles of physics. By Rev. James Challis. (Review); 59. On Loschmidt's experiments on diffusion in relation to the kinetic theory of gases; 60. On the final state of a system of molecules in motion subject to forces of any kind; 61. Faraday; 62. Molecules (a lecture); 63. On double refraction in a viscous fluid in motion; 64. On Hamilton's characteristic function for a narrow beam of light; 65. On the relation of geometrical optics to other parts of mathematics and physics; 66. Plateau on soap-bubbles (Review); 67. Grove's Correlation of physical forces (Review); 68. On the application of Kirchhoff's rules for electric circuits to the solution of a geometric problem; 69. Van der Waals on the continuity of the gaseous and liquid states; 70. On the centre of motion of the eye; 71. On the dynamical evidence of the molecular constitution of bodies (a lecture); 72. On the application of Hamilton's characteristic function to the theory of an optical instrument symmetrical about its axis; 73. Atom; 74. Attraction; 75. On Bow's method of drawing diagrams in graphical statics with illustrations from Peaucellier's Linkage; 76. On the equilibrium of heterogeneous substances; 77. Diffusion of gases through absorbing substances; 78. General considerations concerning scientific apparatus; 79. Instruments connected with fluids; 80. Whewell's Writing and correspondence (Review); 81. On Ohm's Law; 82. On the protection of buildings from lightning; 83. Capillary action; 84. Hermann Ludwig Ferdinand Helmholtz; 85. On a paradox in the theory of attraction; 86. On approximate multiple integration between limits by summation; 87. On the unpublished electrical papers of the Hon. Henry Cavendish; 88. Constitution of bodies; 89. Diffusion; 90. Diagrams; 91. Tait's Thermo

  8. An interview with James Wilbur, Ph.D. General Manager, Life Sciences, Meso Scale Discovery.

    Science.gov (United States)

    Wilbur, James

    2004-06-01

    James L. Wilbur, Ph.D. received a Bachelor's degree from the University of California, San Diego and a Ph.D. in Chemistry from Stanford University. After completing an NIH Postdoctoral Fellowship with Professor George M. Whitesides in the Department of Chemistry at Harvard University, he joined IGEN International, Inc., where he held a variety of positions in Research and Development. During that time, he was part of the team that developed the core technology and products for Meso Scale Discovery. He assumed his current position in 2001 when Meso Scale Discovery launched the products discussed here.

  9. Obituary: James Adolph Westphal, 1930-2004

    Science.gov (United States)

    Danielson, G. Edward

    2004-12-01

    James A. Westphal died September 8, 2004. He had battled a neurological disease related to Alzheimer's for the past year. He was 74. James A. Westphal was born in Dubuque, Iowa, on June 13, 1930. He was raised in Tulsa, Oklahoma, and in Little Rock, Arkansas. Westphal earned his bachelor's degree in physics from the University of Tulsa in 1954, a year after he went to work as geophysical research group leader at Sinclair Research Lab in Tulsa. Westphal first got into the business of scientific instrumentation right after high school, when he did well-logging in Texas and Gulf Coast oil fields. In fact, his work at Sinclair Research Labs involved devising unorthodox methods for oil discovery; one of his discoveries of a new way of processing seismic data first brought him to the attention of Caltech professor Hewitt Dix, who is often considered the father of exploration geophysics. Westphal arrived at Caltech initially on a four-month leave of absence to devise a data processor for Dix, but never left. He discovered that the academic freedom individual professors enjoy was amenable to his own predilections, so he soon began branching out to other areas of scientific investigation at Caltech. Before long, he had teamed up with Bruce Murray to do thermal infrared scans of the moon in order to see if humans could even walk on the lunar surface without sinking into the dusty soil. Westphal and Murray's work showed that rocky areas could be identified with the thermal imaging, which in turn led to the inference that the Apollo astronauts could safely walk on the soil without sinking. Westphal and Murray also teamed up to do the first infrared imaging of Venus and Jupiter. Other projects at Caltech led to Westphal's being hired on permanently by Bob Sharp, who at the time was the geology division chairman. In the following years, Westphal involved himself in novel ways of studying volcanism in Hawaii and Mount St. Helens. He invented a simple and very sensitive tilt meter

  10. The inauguration of Robert-Bourassa Park at James Bay

    International Nuclear Information System (INIS)

    Valiquette, M.

    1997-01-01

    Robert Bourassa's contributions to the hydroelectric development at James Bay were acknowledged with the inauguration of a park in the ex-prime minister's name. Phase 1 of the James Bay hydroelectric project constituted the world's biggest construction site, employing more than 180,000 people from beginning to project completion. The James Bay project allowed Hydro-Quebec to gain one of the world's largest electric power utilities and to gain significant competitive edge over its competitors. The Robert Bourassa Park contains a picnic area and a visitor interpretation centre which describes the history of the project. A sequence of 5 signposts summarize the contributions that Robert Bourassa made to the megaproject which cost over $20.6 billion. The complex consists of 65 turbines which produce 15,235 megawatts of electricity. 1 fig

  11. Acromegaly accompanied by Turner syndrome with 47,XXX/45,X/46,XX mosaicism.

    Science.gov (United States)

    Yamazaki, Masanori; Sato, Ai; Nishio, Shin-ichi; Takeda, Teiji; Miyamoto, Takahide; Katai, Miyuki; Hashizume, Kiyoshi

    2009-01-01

    A 33-year-old woman was hospitalized for examination of edematous laryngopharynx. She was acromegalic. A pituitary adenoma with elevated serum levels of growth hormone (GH) and insulin-like growth factor-I (IGF-I) was detected, indicating acromegaly caused by GH-secreting pituitary adenoma. Multiple pigmented nevi were also noted without overt short stature and cubitus valgus. Chromosome analysis revealed that she had contracted Turner syndrome with 47,XXX/45,X/46,XX mosaicism. Transsphenoidal resection of the tumor decreased serum GH and IGF-I levels, but the edema was not improved. Both premature ovarian failure and hypertension appeared after surgery. This case may indicate the important relationships between GH/IGF-I and Turner syndrome.

  12. Perturbed sympatho-vagal balance in Turner syndrome - relation to aortic dilation

    DEFF Research Database (Denmark)

    Trolle, Christian; Mortensen, Kristian Havmand; Andersen, Niels Holmark

    Objective: The risk of aortic dissection is 100 fold increased in Turner syndrome (TS). Increased blood pressure (BP) and heart rate is present as well as an increased risk of ischemic heart disease and diabetes. This study aimed to prospectively assess heart rate variability (HRV) in TS and its...... relation to aortic dimensions. Methods: Adults with TS (n=91, aged 37.4±10.4 years) recruited through the Danish National Society of Turner Syndrome Contact Group and an endocrine outpatient clinic were examined thrice (mean follow-up of 4.7±0.5 years). Healthy controls (n=64, aged 39.4±12.1 years) were...

  13. A rare association of hyperparathyroidism and Turner's Syndrome - a case report

    International Nuclear Information System (INIS)

    Shirzad, N.; Tehrani, M.; Soltani, A.

    2008-01-01

    We present the clinical, laboratory, radiological and pathological findings in the case and review the literature. Our patient, a 37-year-old woman of short stature, was referred because of musculoskeletal pain. After primary evaluation, she underwent treatment with calcium and vitamin D supplement with the diagnosis of osteomalacia in Turners syndrome. The rise of serum calcium during medical therapy, which was an unusual finding, attracted the clinician's attention to another underlying disorder. Further evaluation revealed primary hyperparathyroidism due to an adenoma of the parathyroid gland. Even though this is a rare diagnosis, its presence should be considered in any patient with Turner's syndrome presenting with severe osteoporosis and a rise in serum calcium during treatment. (author)

  14. Chromosomal sensitivity to X-rays in lymphocytes from patients with Turner syndrome

    International Nuclear Information System (INIS)

    Heras, J.G.; Coco, R.

    1986-01-01

    Lymphocytes from patients with Turner syndrome were irradiated with X-rays to determine the chromosomal aberration frequency in first-division metaphases. Five patients with 45,X karyotype; three 45,X/46,Xi(X)q mosaics; one 45,X/47,XXX mosaic and 9 female controls were studied. Patients with a 45,X karyotype exhibited a radioinduced chromosomal aberration frequency similar to controls. In the mosaics, 45,X cells has a mean frequency of 38.75 +- 2.16; 46,Xi(X)q cells a mean of 38 +- 2.16 and the control group a rate of 36.25 +- 4.32. No differences were observed between 45,X and 46,Xi(X)q cells, 45,X and normal cells or 46,Xi(X)q and normal cells. Apparently neither the X monosomy nor the Xq isochromosome influences the 'in vitro' X-ray-induced chromosomal damage in Turner syndrome lymphocytes. (Auth.)

  15. Down-Turner Syndrome: A Case with Double Monoclonal Chromosomal Abnormality

    Directory of Open Access Journals (Sweden)

    Gioconda Manassero-Morales

    2016-01-01

    Full Text Available Introduction. The coexistence of Down and Turner syndromes due to double chromosome aneuploidy is very rare; it is even more rare to find the presence of a double monoclonal chromosomal abnormality. Objective. To report a unique case of double monoclonal chromosomal abnormality with trisomy of chromosome 21 and an X ring chromosome in all cells studied; no previous report has been found. Case Report. Female, 28 months old, with pathological short stature from birth, with the following dysmorphic features: tilted upward palpebral fissures, short neck, brachycephaly, and low-set ears. During the neonatal period, the infant presented generalized hypotonia and lymphedema of hands and feet. Karyotype showed 47,X,r(X,+21 [30]. Conclusion. Clinical features of both Down and Turner syndromes were found, highlighting short stature that has remained below 3 z score from birth to the present, associated with delayed psychomotor development. G-banded karyotype analysis in peripheral blood is essential for a definitive diagnosis.

  16. Hypogonadism and Sex Steroid Replacement Therapy in Girls with Turner Syndrome.

    Science.gov (United States)

    Gawlik, Aneta; Hankus, Magdalena; Such, Kamila; Drosdzol-Cop, Agnieszka; Madej, Paweł; Borkowska, Marzena; Zachurzok, Agnieszka; Malecka-Tendera, Ewa

    2016-12-01

    Turner syndrome is the most common example of hypergonadotropic hypogonadism resulting from gonadal dysgenesis. Most patients present delayed, or even absent, puberty. Premature ovarian failure can be expected even if spontaneous menarche occurs. Laboratory markers of gonadal dysgenesis are well known. The choice of optimal hormone replacement therapy in children and adolescents remains controversial, particularly regarding the age at which therapy should be initiated, and the dose and route of estrogen administration. On the basis of a review of the literature, we present the most acceptable schedule of sex steroid replacement therapy in younger patients with Turner syndrome. Copyright © 2016 North American Society for Pediatric and Adolescent Gynecology. Published by Elsevier Inc. All rights reserved.

  17. J. M. W. Turner's painting "The unpaid bill, or the dentist reproving his son's prodigality".

    Science.gov (United States)

    Bishop, M; Gelbier, S; King, J

    2004-12-25

    In November 2002, the BDA News carried an item, illustrated with a colour reproduction, describing a painting of a Georgian dentist's rooms by Joseph Mallord William Turner (1775-1851), one of the most respected of English artists, which was shortly to come up for auction at Christies' Rooms in London. This work, first exhibited in 1808, was entitled "The unpaid bill, or the dentist reproving his son's prodigality", and had originally been commissioned by the connoisseur Richard Payne Knight (1750-1824). "The examiner", a contemporary London journal, identifies the 'cradle-piece' for the commission as being a Rembrandt which Payne Knight owned, and the journalist Robert Hunt said that Turner had more than come up to the task of showing that a modern could handle light as well as the old master, 'for a picture of colouring and effect, it is ... inestimable'.

  18. A simplified guide for arranging 30 degrees Pilkington Turner posterior denture teeth in a balanced occlusion.

    Science.gov (United States)

    Nilsson, Dennis; Meng, Thomas

    2007-01-01

    A simple technique is presented for achieving balanced occlusion when setting 30 degrees Pilkington-Turner teeth. This technique involves the rotation of the mandibular posterior teeth around three axes: the vertical axis, to align the grooves and embrasures with the lateral path of the movement of the cusps; the mesio-distal axis, to achieve the Curve of Wilson; and the bucco-lingual axis, resulting in the Curve of Spee.

  19. Turner syndrome in Albania and the efficacy of its treatment with growth hormone.

    Science.gov (United States)

    Hoxha, Petrit; Babameto-Laku, Anila; Vyshka, Gentian; Gjoka, Klodiana; Minxuri, Dorina; Myrtaj, Elira; Çakërri, Luljeta

    2015-11-01

    The aim of this study was the evaluation of Turner syndrome inside the Albanian population, its clinical, cytological and genetic characteristics, the accompanying pathologies, and the efficacy of the treatment with the growth hormone. We performed a retrospective analysis of 59 patients suffering from this syndrome (aging from 5 to 23 years old). The diagnosis of female patients suffering from Turner syndrome is delayed, with a mean age at the moment of diagnosis of 13.74 years (5-23 years). The main reason for seeking medical advice was the growth retardation or a delayed puberty. Available data for 52 patients showed that the most frequent accompanying pathologies were the following: thyroid autoimmune disorders (59%), cardiovascular anomalies (43%), renal pathologies (41%), hearing impairment (4.3%) and hypertension (3.3%). Follow-up for the growth rate was possible for 52 patients out of the total of 59 patients. Twenty-five of the female patients suffering Turner syndrome and forming part of our study sample were treated with growth hormone for a period averaging 3 years and 4 months. A variety of reasons was identified as responsible for the missed treatment in 27 patients. We saw an enhanced growth (in terms of body height) within the treated subgroup, when compared with the untreated subgroup (27 patients), especially during the first 3 years of the follow-up. No side effects of this treatment were reported. Both groups of patients initiated as well a sexual hormone therapy (estrogens and progesterone) for inducing puberty at the age of 12 years. Further work is needed for an early diagnosis of this syndrome, the prompt treatment with growth hormone and the monitoring of accompanying disorders. This will ensure a better quality of life and an improvement of the longevity of patients suffering from the Turner syndrome.

  20. Gradually increasing ethinyl estradiol for Turner syndrome may produce good final height but not ideal BMD.

    Science.gov (United States)

    Hasegawa, Yukihiro; Ariyasu, Daisuke; Izawa, Masako; Igaki-Miyamoto, Junko; Fukuma, Mami; Hatano, Megumi; Yagi, Hiroko; Goto, Masahiro

    2017-02-27

    Estrogen replacement therapy in Turner syndrome should theoretically mimic the physiology of healthy girls. The objective of this study was to describe final height and bone mineral density (BMD) in a group of 17 Turner syndrome patients (group E) who started their ethinyl estradiol therapy with an ultra-low dosage (1-5 ng/kg/day) from 9.8-13.7 years. The subjects in group E had been treated with GH 0.35 mg/kg/week since the average age of 7.4 years. The 30 subjects in group L, one of the historical groups, were given comparable doses of GH, and conjugated estrogen 0.3125 mg/week ∼0.3125 mg/day was initiated at 12.2-18.7 years. The subjects in group S, the other historical group, were 21 patients who experienced breast development and menarche spontaneously. Final height (height gain Turner syndrome. The final height in group L was 148.5 ± 3.0 cm with a SD of 1.30 ± 0.55, which was significantly different from the values for group E. The volumetric BMD of group S (0.290 ± 0.026 g/cm 3 ) was significantly different from that of group L or E (0.262 or 0.262 g/cm 3 as a mean, respectively). This is the first study of patients with Turner syndrome where estrogen was administered initially in an ultra-low dose and then increased gradually. Our estrogen therapy in group E produced good final height but not ideal BMD.

  1. Clinical and genetic characteristics in a group of 45 patients with Turner syndrome (monocentric study).

    Science.gov (United States)

    Bucerzan, Simona; Miclea, Diana; Popp, Radu; Alkhzouz, Camelia; Lazea, Cecilia; Pop, Ioan Victor; Grigorescu-Sido, Paula

    2017-01-01

    Recent years have seen a shift in perspective on Turner syndrome, as it is no longer considered a significant disability due to therapeutic advances. The delay of diagnosis and the underdiagnosis are common in Turner syndrome, especially because of the great phenotypic variability and lack of firm diagnostic criteria. Our first aim was to assess the clinical and the cytogenetic characteristics and growth rate in growth hormone (GH)-treated patients as compared to those with spontaneous growth. The second aim was to analyze the Y chromosomal sequences. We analyzed 45 patients diagnosed with Turner syndrome in Genetic Pathology Centre of Cluj Emergency Children's Hospital. We carried out a study of the clinical features, the correlations between the karyotype and the phenotype, and we also made a research of Y chromosome sequences. The average age at diagnosis was 8.9±5.4 years. A significant association was observed between the number of external phenotypical abnormalities and internal malformations ( r =0.45), particularly the cardiovascular ones ( r =0.44). Patients treated with GH showed improvement in growth rate, with final stature significantly better than in untreated patients; benefits following treatment were greater if diagnosis was made before the age of 5 years. Thirteen percent of patients experienced spontaneous and complete puberty, whereas 30% experienced incomplete puberty. Patients with the 45,X genotype had a greater stature deficit and a higher incidence of cardiac malformations, compared with patients with 45,X/46,XX mosaic karyotype. Y chromosome sequences were found in only one patient, who subsequently underwent gonadectomy. The importance of this study resides, to the best of our knowledge, in the fact that the largest group of patients in Romania was analyzed and assessed. To draw firm conclusions on the most valuable clinical indicators for Turner syndrome diagnosis in clinical practice, studies on large groups of patients should be

  2. Measured parental height in Turner syndrome-a valuable but underused diagnostic tool.

    Science.gov (United States)

    Ouarezki, Yasmine; Cizmecioglu, Filiz Mine; Mansour, Chourouk; Jones, Jeremy Huw; Gault, Emma Jane; Mason, Avril; Donaldson, Malcolm D C

    2018-02-01

    Early diagnosis of Turner syndrome (TS) is necessary to facilitate appropriate management, including growth promotion. Not all girls with TS have overt short stature, and comparison with parental height (Ht) is needed for appropriate evaluation. We examined both the prevalence and diagnostic sensitivity of measured parental Ht in a dedicated TS clinic between 1989 and 2013. Lower end of parental target range (LTR) was calculated as mid-parental Ht (correction factor 12.5 cm minus 8.5 cm) and converted to standard deviation scores (SDS) using UK 1990 data, then compared with patient Ht SDS at first accurate measurement aged > 1 year. Information was available in 172 girls of whom 142 (82.6%) were short at first measurement. However, both parents had been measured in only 94 girls (54.6%). In 92 of these girls age at measurement was 6.93 ± 3.9 years, Ht SDS vs LTR SDS - 2.63 ± 0.94 vs - 1.77 ± 0.81 (p Turner syndrome are short in relation to parental heights, with untreated final height approximately 20 cm below female population mean. • Measured parental height is more accurate than reported height. What is New: • In a dedicated Turner clinic, there was 85% sensitivity when comparing patient height standard deviation score at first accurate measurement beyond 1 year of age with the lower end of the parental target range standard deviation. • However, measured height in both parents had been recorded in only 54.6% of the Turner girls attending the clinic. This indicates the need to improve the quality of growth assessment in tertiary care.

  3. Fenotipo turneriano asociado al cromosoma Y en anillo TURNER'S PHENOTYPE ASSOCIATED WITH RING Y CHROMOSOME

    Directory of Open Access Journals (Sweden)

    Estela Morales Peralta

    2005-03-01

    Full Text Available El síndrome de Turner es una enfermedad que típicamente afecta a las hembras. En nuestro trabajo describimos un paciente con los signos principales de esta. Su cariotipo fue 46, X r(Y /45, X. Este mosaicismo se explica por la inestabilidad del anillo cromosómico que conduce a su pérdida luego de la mitosis. Mediante pruebas moleculares, que incluyeron la identificación de los genes SRY y AM-XY, obtuvimos los resultados habituales encontrados en varones. De estos hallazgos podemos concluir que el material genético perdido, como parte del proceso de formación del anillo cromosómico, es distal a Y p11.3. Esto demuestra que los genes anti-Turner se encuentran localizados en esta región pseudoautosómica.Turner's syndrome is a disease typically affecting females. In our paper, we describe a patient with its main signs. His karyotype was 46, Xr(Y/45,X. This mosaicism is explained by the instability of the chromosomic ring leading to its loss after mitosis. By molecular tests, including the identification of SRY and AM-XY genes, we obtained the usual results found in males. According to these findings, we can conclude that the genetical material lost as part of the process of formation of the chromosomic ring is distal to Y p 11.3. This shows that the anti-Turner genes are located in this pseudoautosomal region.

  4. Minimum wage effects on employment and school enrollment: reply to Evans and Turner

    OpenAIRE

    David Neumark; William L. Wascher

    1996-01-01

    In earlier work, we presented results suggesting that minimum wage increases have important consequences for both the employment opportunities of youths and their decision to enroll in school. In this paper, we show that the recent claim made by William Evans and Mark Turner that our results are sensitive to changes in the definition of the enrollment rate is based upon an analysis that uses a mismeasured minimum wage index. When the data are constructed properly, our original conclusions are...

  5. Grey Turner's and Cullen's signs induced by spontaneous hemorrhage of the abdominal wall after coughing.

    Science.gov (United States)

    Fan, Zhe; Zhang, Yingyi

    2017-08-01

    Grey Turner's and Cullen's signs are rare clinical signs, which most appear in patients with severe acute pancreatitis. The present patient complained of abdominal pain after coughing. However, contrast-enhanced CT revealed a hemorrhage of the abdominal wall. Therefore, spontaneous hemorrhage of the abdominal wall was diagnosed. The patient recovered through immobilization and hemostasis therapy. This case report and literature review aims to remind clinicians of manifestations and treatment of spontaneous hemorrhage.

  6. Growth hormone treatment in Turner syndrome accelerates growth and skeletal maturation

    NARCIS (Netherlands)

    C. Rongen-Westerlaken (Ciska); J.M. Wit (Jan); S.M.P.F. de Muinck Keizer-Schrama (Sabine); B.J. Otten (Barto); W. Oostdijk (Wilma); H.A. Delemarre-van der Waal (H.); M.H. Gons (M.); A.G. Bot (Alice); J.L. van den Brande (J.)

    1992-01-01

    textabstractSixteen girls with Turner syndrome (TS) were treated for 4 years with biosynthetic growth hormone (GH). The dosage was 4IU/m2 body surface s.c. per day over the first 3 years. In the 4th year the dosage was increased to 61 U/m2 per day in the 6 girls with a poor height increment and in 1

  7. Unheard voices: James Bay II and the women of Kuujjuarapik

    International Nuclear Information System (INIS)

    Hawkes, S.

    1991-01-01

    The attitudes held by the aboriginal peoples of the James Bay region toward the James Bay II hydroelectric power development are described. These attitudes are communicated primarily through the comments of Innu women. Major concerns with the Great Whale project relate to its impact on country food, mercury contamination, and camps. The entire community of Kuujjuarapik was totally opposed to the Great Whale project. While direct impacts such as mercury contamination or reduced wildlife harvest are the most obvious impacts, indirect impacts relating to cultural damage, increased abuse and alcoholism, and influx of non-native construction workers will also have significant effects, and warrant further study

  8. Unheard voices: James Bay II and the women of Kuujjuarapik

    Energy Technology Data Exchange (ETDEWEB)

    Hawkes, S. (Waterloo Univ., ON (Canada))

    The attitudes held by the aboriginal peoples of the James Bay region toward the James Bay II hydroelectric power development are described. These attitudes are communicated primarily through the comments of Innu women. Major concerns with the Great Whale project relate to its impact on country food, mercury contamination, and camps. The entire community of Kuujjuarapik was totally opposed to the Great Whale project. While direct impacts such as mercury contamination or reduced wildlife harvest are the most obvious impacts, indirect impacts relating to cultural damage, increased abuse and alcoholism, and influx of non-native construction workers will also have significant effects, and warrant further study.

  9. Unusual association of turner syndrome and hypopituitarism in a Tunisian family.

    Science.gov (United States)

    Bougacha-Elleuch, N; Elleuch, M; Charfi, N; Mnif, F; Belghith, N; Abdelhedi, F; Kammoun, H; Hachicha, M; Mnif, M; Abid, M

    2016-01-01

    Familial occurrence of either Turner syndrome or hypopituitarism is very rare. Particularly, their association is an uncommon finding. In this context, we describe for the first time 4 sisters with Turner syndrome, hypopituitarism was reported in three among them. Our cohort consists of four Tunisian adult sisters belonging to a consanguineous family. Biochemical analysis, resonance magnetic imaging and cytogenetic analyses were performed. Turner syndrome was diagnosed at the ages of 14, 17, 31 and 43 years in cases 1, 2, 3 and 4 respectively. They suffered from short stature, dysmorphic syndrome and/or delayed puberty. Interestingly, 3 among them showed also hypopituitarism, hypogonadotrophic hypogonadism and central hypothyroidism. Somatotropic insufficiency was proven in one case. Pituitary MRI has shown an empty sella turcica with hypoplastic pituitary gland in three cases. Their karyotypes were compatible with 45X in one case, 45X/46XX in the second and 45X/46XX/47XXY with x label in two cases. Hence, the presence of these familial cases of TS must evoke new etiopathogenetic arguments. Coincidence of hypopituitarism in this family, might suggest common genetic background for the two diseases. This particular family would be a precious tool for an extensive molecular analysis. More attention should be given to other family's members mainly in the presence of delayed puberty and sterility in other members. Copyright © 2016 Elsevier Masson SAS. All rights reserved.

  10. Social and medical determinants of quality of life and life satisfaction in women with Turner syndrome.

    Science.gov (United States)

    Jeż, Wacław; Tobiasz-Adamczyk, Beata; Brzyski, Piotr; Majkowicz, Mikołaj; Pankiewicz, Piotr; Irzyniec, Tomasz J

    2018-02-01

    Turner syndrome (TS) appears in women as a result of the lack of part or the whole of one of the X chromosomes. It is characterized by the occurrence of low height, hypogonadism, numerous developmental defects, and is often accompanied by psychological disturbances. Although the phenotype characteristics of women with TS are quite well documented, the knowledge of the impact of Turner syndrome on the satisfaction with life is still insufficient. The aim of our study was to assess the impact of TS on selected variables of quality of life, and hence also life satisfaction in women with this syndrome. The research was carried out in a group of 176 women with TS starting March 1995. The patients underwent anthropological and medical examinations, and their medical histories were taken using a questionnaire that included demographic and psychosocial items as well as issues related to selected variables of quality of life. In our research model, general life satisfaction was a dependent variable. The statistical analysis was conducted using the eta and Cramer's V correlation coefficients as well as a multidimensional logistic regression model. The main determinants of dissatisfaction with life in women with TS were short stature and feelings of loneliness and being handicapped. The determinants of life satisfaction in women with Turner syndrome were closely related to the private life of the study participants, in particular self-perception and feelings concerning their health status.

  11. A unique mosaic Turner syndrome patient with androgen receptor gene derived marker chromosome.

    Science.gov (United States)

    Kalkan, Rasime; Özdağ, Nermin; Bundak, Rüveyde; Çirakoğlu, Ayşe; Serakinci, Nedime

    2016-01-01

    Patients with Turner syndrome are generally characterized by having short stature with no secondary sexual characteristics. Some abnormalities, such as webbed neck, renal malformations (>50%) and cardiac defects (10%) are less common. The intelligence of these patients is considered normal. Non-mosaic monosomy X is observed in approximately 45% of postnatal patients with Turner syndrome and the rest of the patients have structural abnormalities or mosaicism involving 46,X,i(Xq), 45,X/46,XX, 45,X and other variants. The phenotype of 45,X/46,X,+mar individuals varies by the genetic continent and degree of the mosaicism. The gene content of the marker chromosome is the most important when correlating the phenotype with the genotype. Here we present an 11-year-old female who was referred for evaluation of her short stature and learning disabilities. Conventional cytogenetic investigation showed a mosaic 45,X/46,X,+mar karyotype. Fluorescence in situ hybridization showed that the marker chromosome originated from the X chromosome within the androgen receptor (AR) and X-inactive specific transcript (XIST) genes. Therefore, it is possible that aberrant activation of the marker chromosome, compromising the AR and XIST genes, may modify the Turner syndrome phenotype.

  12. Molecular genetics of Turner syndrome: correlation with clinical phenotype and response to growth hormone therapy.

    Science.gov (United States)

    Tsezou, A; Hadjiathanasiou, C; Gourgiotis, D; Galla, A; Kavazarakis, E; Pasparaki, A; Kapsetaki, M; Sismani, C; Theodoridis, C; Patsalis, P C; Moschonas, N; Kitsiou, S

    1999-12-01

    To correlate the origin of the retained X in Turner syndrome with phenotype, pre-treatment height and response to recombinant human growth hormone (rhGH) therapy, systematic clinical assessment and molecular studies were carried out in 33 Greek children with Turner syndrome and their parents including 18 children with 45,X and 15 with X-mosaicism. Microsatellite markers on X chromosomes (DXS101 and DXS337) revealed that the intact X was paternal (Xp) in 15/30 and maternal (Xm) in 15/30 children, while 3/33 families were non-informative. No significant relationship was found between parental origin of the retained X and birth weight/length/gestational age, blepharoptosis, pterygium colli, webbed neck, low hairline, abnormal ears, lymphoedema, short 4th metacarpal, shield chest, widely spaced nipples, cubitus valgus, pigmented naevi, streak gonads, and cardiovascular/renal anomalies. With regard to the children's pre-treatment height, there was a significant correlation with maternal height and target height in both Xm and Xp groups. No differences were found between Xm and Xp groups and the improvement of growth velocity (GV) during the first and second year of rhGH administration, while for both groups GV significantly improved with rhGH by the end of the first and the second year. To our knowledge, this is the first attempt to correlate the parental origin of Turner syndrome with the response to rhGH therapy.

  13. THE SYSTEM OF TREATMENT OF HIP DYSPLASIA IN CHILDREN (CONCEPTION OF SRICO N.A. H.I. TURNER

    Directory of Open Access Journals (Sweden)

    Mikhail Mikhailovich Kamosko

    2013-03-01

    Full Text Available The system of treatment of hip dysplasia that is developed, applied and perfected at FSBI "Scientific and Research Institute for Children's Orthopedics n.a. H. Turner" involves the early entirely functional treatment (Lorenz method, other methods are similar in gist, providing immobilization with a cast or other devices, are not applied. The operative therapy is performed in primary patients with intrauterine or teratogenic dislocations of the hip. Technology of operative treatment is extremely gentle, sparing. Operations on deepening of socket, iatrogenic affection on cartilage cover, capsular arthroplasty are excluded from the arsenal of surgeons. Anatomy of a children’s dysplastic of hip joints (not subjected to inappropriate conservative or surgical treatment has several fairly standard options. For each option, there is a combination of classical operational techniques (tenomyotomy of lumbar-iliac muscle, capsulotomy, detorsion, varization, shortening, medialization, changes in the spatial orientation of the arch or of the whole acetabulum, which have proven on the vast clinical material to be very effective with the right technical performance.

  14. Genomic-based nursing care for women with Turner Syndrome: genomic-based nursing care Atención de enfermería basada en genómica para las mujeres con Síndrome de Turner Cuidado de enfermagem baseado em genômica para mulheres com Síndrome de Turner

    Directory of Open Access Journals (Sweden)

    Milena Flória-Santos

    2006-10-01

    Full Text Available Biologic and technologic advances generated from The Human Genome Project are having a dramatic impact on the expanding role of nurses in current health care practice. New genetic research needs to be transformed rapidly into clinical protocols with recommendations for delivering care to targeted populations. Nurses can contribute significantly, as part of an interdisciplinary approach, to translate genome-based knowledge into benefits for health care and society. In this context, we describe a clinical-genetic investigation protocol, as well nursing diagnosis, interventions and outcomes for clients with Turner Syndrome (TS at risk for develop gonadal tumors, due the presence of a normal or abnormal Y chromosome.Los avances biológicos y tecnológicos generados a partir del Proyecto Genoma Humano están teniendo un impacto dramático en el extenso papel de las enfermeras en la práctica actual del cuidado de la salud. Nuevas investigaciones genéticas necesitan ser transformadas rápidamente en protocolos clínicos con recomendaciones para suministrar cuidados a las poblaciones necesitadas. Las enfermeras pueden contribuir significantemente, como parte de un acercamiento interdisciplinario, traduciendo conocimientos basados en el genoma en ventajas para el cuidado de la salud y la sociedad. En este contexto, describimos un protocolo de investigación clínico-genético e también diagnósticos de enfermería, intervenciones y resultados para clientes con Síndrome de Turner (TS y riesgo de desarrollar tumores gonadales, debido a la presencia de un cromosoma Y normal o anormal.Os avanços biológicos e tecnológicos gerados a partir do Projeto Genoma Humano estão tendo um impacto dramático na expansão do papel dos enfermeiros na prática atual do cuidado em saúde. As novas pesquisas genéticas necessitam ser rapidamente transformadas em protocolos clínicos, com recomendações para ministrar cuidados a populações alvo. Enfermeiros podem

  15. Clinical and genetic characteristics in a group of 45 patients with Turner syndrome (monocentric study

    Directory of Open Access Journals (Sweden)

    Bucerzan S

    2017-05-01

    Full Text Available Simona Bucerzan,1 Diana Miclea,1,2 Radu Popp,2 Camelia Alkhzouz,1 Cecilia Lazea,1 Ioan Victor Pop,2 Paula Grigorescu-Sido1 1Emergency Hospital for Children, “Iuliu Hatieganu” University of Medicine and Pharmacy, Cluj-Napoca, Romania; 2Department of Molecular Sciences, “Iuliu Hatieganu” University of Medicine and Pharmacy, Cluj-Napoca, Romania Introduction: Recent years have seen a shift in perspective on Turner syndrome, as it is no longer considered a significant disability due to therapeutic advances. The delay of diagnosis and the underdiagnosis are common in Turner syndrome, especially because of the great phenotypic variability and lack of firm diagnostic criteria.Aim: Our first aim was to assess the clinical and the cytogenetic characteristics and growth rate in growth hormone (GH-treated patients as compared to those with spontaneous growth. The second aim was to analyze the Y chromosomal sequences.Materials and methods: We analyzed 45 patients diagnosed with Turner syndrome in Genetic Pathology Centre of Cluj Emergency Children’s Hospital. We carried out a study of the clinical features, the correlations between the karyotype and the phenotype, and we also made a research of Y chromosome sequences.Results: The average age at diagnosis was 8.9±5.4 years. A significant association was observed between the number of external phenotypical abnormalities and internal malformations (r=0.45, particularly the cardiovascular ones (r=0.44. Patients treated with GH showed improvement in growth rate, with final stature significantly better than in untreated patients; benefits following treatment were greater if diagnosis was made before the age of 5 years. Thirteen percent of patients experienced spontaneous and complete puberty, whereas 30% experienced incomplete puberty. Patients with the 45,X genotype had a greater stature deficit and a higher incidence of cardiac malformations, compared with patients with 45,X/46,XX mosaic karyotype. Y

  16. Successful pregnancy outcome in Swyer-James-Macleod syndrome

    Directory of Open Access Journals (Sweden)

    Chopra Seema

    2008-01-01

    Full Text Available Swyer-James-MacLeod (SJM syndrome is a chronic, progressive lung disease as a result of infection and bronchial obstruction that ultimately leads to emphysema. It is associated with chronic cough, sputum production and recurrent chest infections and is occasionally seen in women of reproductive age. The radiological finding of unilateral hyperlucent lung is considered synonymous with the disease entity.

  17. James Van Allen and His Namesake NASA Mission

    Science.gov (United States)

    Baker, D. N.; Hoxie, V. C.; Jaynes, A.; Kale, A.; Kanekal, S. G.; Li, X.; Reeves, G. D.; Spence, H. E.

    2013-12-01

    In many ways, James A. Van Allen defined and "invented" modern space research. His example showed the way for government-university partners to pursue basic research that also served important national and international goals. He was a tireless advocate for space exploration and for the role of space science in the spectrum of national priorities.

  18. Keening Woman and Today: James Welch's Early Unpublished Novel

    Science.gov (United States)

    Orton, Thomas

    2006-01-01

    It was most likely in the spring of 1966 that the late American Indian novelist James Welch wrote his first novel, predating his first published fiction by eight years. The titleless, hand-corrected typescript, stored in his Missoula home for many years, is 114 pages long and unfinished. The book is playful and experimental the way warm-ups…

  19. James J. Gallagher: Man in the White Hat

    Science.gov (United States)

    Jolly, Jennifer L.; Robinson, Ann

    2014-01-01

    In classic Western movies, the good guy could be frequently identified by his trademark white Stetson hat, whereas the bad guy always wore black. James J. Gallagher wore many hats during his career that spanned over six decades; he too would be known as the "man in the white hat,"--trusted to do the right thing. From 1967 to 1970,…

  20. Engineering new medicine: an interview with James Collins.

    Science.gov (United States)

    Collins, James

    2010-01-01

    At first glance, the commonality among synthetic gene networks, nerve cell response times and the emergence of antibiotic resistance is obscure. Yet, when speaking with James (Jim) Collins, the relationship becomes clear: all are applications-oriented problems, and all inspire unique approaches from this unusual engineer who is empowered by his freedom to fail.

  1. Groundbreaking Investigator of Creativity: An Interview with James C. Kaufman

    Science.gov (United States)

    Henshon, Suzanna E.

    2010-01-01

    This article presents an interview with James C. Kaufman, an associate professor of psychology at the California State University at San Bernardino, where he directs the Learning Research Institute. Kaufman received his PhD in cognitive psychology from Yale University in 2001. Dr. Kaufman's research broadly focuses on nurturing and encouraging…

  2. 75 FR 13323 - James A. Fitzpatrick Nuclear Power Plant; Exemption

    Science.gov (United States)

    2010-03-19

    ... Power Plant; Exemption 1.0 Background Entergy Nuclear Operations, Inc. (the licensee) is the holder of... nuclear power plants that were licensed before January 1, 1979, satisfy the requirements of 10 CFR Part 50...), as supplemented by letter dated March 30, 2009, ``James A. FitzPatrick Nuclear Power Plant-Response...

  3. 75 FR 16520 - James A. Fitzpatrick Nuclear Power Plant; Exemption

    Science.gov (United States)

    2010-04-01

    ... Power Plant; Exemption 1.0 Background Entergy Nuclear Operations, Inc. (the licensee) is the holder of Facility Operating License No. DPR-59, which authorizes operation of the James A. FitzPatrick Nuclear Power... date for all operating nuclear power plants, but noted that the Commission's regulations provide...

  4. James Madison High: A School at the Crossroads

    Science.gov (United States)

    Stroup, John T.; Salmonowicz, Michael J.; Broom, Christopher C.

    2007-01-01

    This case tells the story of James Madison High School, which became the epicenter of a debate over the future reorganization and control of large secondary schools in the Los Angeles Unified School District (LAUSD). The LAUSD, recently taken over by the newly elected mayor, was fighting for control of this 3,000-student high school with a charter…

  5. James Madison's Practical Ideals for the 1990s.

    Science.gov (United States)

    Delattre, Edwin J.

    This paper examines recent behavior of public officials at various levels of government in the United States, finds a systemic failure to meet ethical standards, and concludes that the wisdom of James Madison has much applicability to current times. Given his keen perception of human nature, Madison would not be too surprised at today's poor…

  6. James Madison's "Public" As Interpreter of the Constitution.

    Science.gov (United States)

    Dewey, Donald O.

    James Madison's thoughts on various interpretations of the Constitution maintain that public opinion is the ultimate method of legitimizing the document. The Constitution must prevail against mere public opinion, but public opinion may be used to establish the meaning of the Constitution when conflicting interpretations exist. The public good and…

  7. THE JAMES MADISON WOOD QUADRANGLE, STEPHENS COLLEGE, COLUMBIA, MISSOURI.

    Science.gov (United States)

    MCBRIDE, WILMA

    THE JAMES MADISON WOOD QUADRANGLE AT STEPHENS COLLEGE IS A COMPLEX OF BUILDINGS DESIGNED TO MAKE POSSIBLE A FLEXIBLE EDUCATIONAL ENVIRONMENT. A LIBRARY HOUSES A GREAT VARIETY OF AUDIO-VISUAL RESOURCES AND BOOKS. A COMMUNICATION CENTER INCORPORATES TELEVISION AND RADIO FACILITIES, A FILM PRODUCTION STUDIO, AND AUDIO-VISUAL FACILITIES. THE LEARNING…

  8. Looking Backward: James Madison University's General Education Reform.

    Science.gov (United States)

    Reynolds, Charles W.; Allain, Violet Anselmini; Erwin, T. Dary; Halpern, Linda Cabe; McNallie, Robin; Ross, Martha K.

    1998-01-01

    Describes the new general education program at James Madison University (Virginia) and the process by which it was developed. Indicates that the program is organized by five broad areas of knowledge that are defined by interdisciplinary clusters of learning objectives, which in turn were developed using input from every academic department on…

  9. The James Madison College Student Handbook, 1970-71.

    Science.gov (United States)

    Michigan State Univ., East Lansing. James Madison Coll.

    James Madison College of Michigan State University provides a 4-year, residentially-based program devoted to the study of major social, economic, and political policy problems. It offers 5 fields of concentration: (1) Ethnic and Religious Intergroup Relations Policy Problems; (2) International Relations Policy Problems; (3) Justice, Morality and…

  10. "To Mediate Relevantly": A Response to James Simpson

    Science.gov (United States)

    Waters, Alan

    2009-01-01

    In Waters (2009), it was contended that, because of its ideological orientation, a good deal of applied linguistics for language teaching (ALLT) fails to "mediate relevantly" between academic and practitioner perspectives. James Simpson's rejoinder to my article (Simpson 2009) attempts to refute its claims. However, in my view, it fails to do so,…

  11. James Brown, Sample Culture and the Permanent Distance of Glory

    Directory of Open Access Journals (Sweden)

    Steve Jones

    2009-12-01

    Full Text Available The James Brown song ‘I’m Real’ (1988 features lyrics regaled from James Brown’s back catalogue, alongside vocal samples extracted from his earlier hits. As one of the most sampled artists of the hip-hop era, James employed sampling in order to reclaim his position as the “Godfather of Soul” and express his disatisfaction at having his work overtly plundered. The central questions I pose here focus on what the choice to sample himself reveals about Brown’s status as a Soul legend, and whether the contemporaneous James could sincerely live up to the mythic status inherent to the message of ‘I’m Real’ given its self-conscious form. This confusion appears to be an extension of Walter Benjamin’s conception of déjà vu as an acoustic effect - ‘the cool tomb of long ago, from the vault of which the present seems to return only as an echo’ (Benjamin cited in Breyley, 2009: 145 - only here the slippage between past and present is quite literal, involving the discordant imbrication of two divergent temporal states. Via a detailed investigation of the song ‘I’m Real‘, I will probe Brown’s playful employment of his own past. His gambit, I will argue, may be read simultaneously as testament to his own glory, and as a signifier that the excesses of egotistic auto-projection were always more distant than they first appeared to be.

  12. The Contributions of James Moir to Physical Chemistry | Loyson ...

    African Journals Online (AJOL)

    James Moir was a pioneering chemist in the early 1900s who played a leading role in various chemical societies in South Africa. Although he was mainly an organic chemist, he was a very good all-round chemist, whose analytical and organic activities have already been covered in this journal. This article examines his ...

  13. Astronaut James Lovell checks body temperature with oral temperature probe

    Science.gov (United States)

    1965-01-01

    Gemini 7 pilot Astronaut James A. Lovell Jr. has temperature check with oral temperature probe attached to his space suit during final preflight preparations for the Gemini 7 space mission. The temperature probe allows doctors to monitor astronauts body temperature at any time during the mission.

  14. Application of Molecular Adsorber Coatings in Chamber A for the James Webb Space Telescope

    Science.gov (United States)

    Abraham, Nithin S.

    2017-01-01

    As a coating made of highly porous zeolite materials, the Molecular Adsorber Coating (MAC) was developed to capture outgassed molecular contaminants, such as hydrocarbons and silicones. For spaceflight applications, the adsorptive capabilities of the coating can alleviate on-orbit outgassing concerns on or near sensitive surfaces and instruments within the spacecraft. Similarly, this sprayable paint technology has proven to be significantly beneficial for ground-based space applications, in particular, for vacuum chamber environments. This presentation describes the application of the MAC technology for the James Webb Space Telescope (JWST) at NASA Johnson Space Center (JSC). The coating was used as a mitigation tool to entrap outgassed contaminants, specifically silicone-based diffusion pump oil, from within JSCs cryogenic optical vacuum chamber test facility called Chamber A. This presentation summarizes the background, fabrication, installation, chemical analysis test results, and future plans for the MAC technology, which was effectively used to protect the JWST test equipment from vacuum chamber contamination. As a coating made of highly porous zeolite materials, the Molecular Adsorber Coating (MAC) was developed to capture outgassed molecular contaminants, such as hydrocarbons and silicones. For spaceflight applications, the adsorptive capabilities of the coating can alleviate on-orbit outgassing concerns on or near sensitive surfaces and instruments within the spacecraft. Similarly, this sprayable paint technology has proven to be significantly beneficial for ground-based space applications, in particular, for vacuum chamber environments. This presentation describes the application of the MAC technology for the James Webb Space Telescope (JWST) at NASA Johnson Space Center (JSC). The coating was used as a mitigation tool to entrap outgassed contaminants, specifically silicone-based diffusion pump oil, from within JSCs cryogenic optical vacuum chamber test

  15. TURNER LECTURE Military education and the study of War

    African Journals Online (AJOL)

    the Need for the Study of Military History found in 1971 that less attention was paid ... historian, to maintain that line for very long, but a spirit of technological determinism ... systems analysis principles whose application to business he and others had pioneered .... intellectual advancement of officers of every army', he wrote.

  16. Environmental Assessment on the leasing of the Strategic Petroleum Reserve, St. James Terminal, St. James Parish, Louisiana

    Energy Technology Data Exchange (ETDEWEB)

    NONE

    1995-01-01

    The US Department of Energy (DOE) proposes to lease the Strategic Petroleum Reserve`s (SPR) St. James Terminal to private industry. The St. James Terminal consists of six storage tanks, a pumping station, two maine docks and ancillary facilities. DOE believes that the St. James Terminal presents an opportunity to establish a government- industry arrangement that could more effectively use this asset to serve the nations`s oil distribution needs, reduce the operational cost of the SPR, and provide a source of revenue for the Government. DOE solicited interest in leasing its distribution facilities in a notice published March 16, 1994. In response, industry has expressed interest in leasing the St. James Terminal, as well as several DOE pipelines, to enhance the operation of its own facilities or to avoid having to construct new ones. Under such a lease, industry use would be subordinate to DOE use in the event of a national energy emergency. This Environmental Assessment describes the proposed leasing operation, its alternatives, and potential environmental impacts. Based on this analyses, DOE has determined that the proposed action is not a major Federal action significantly affecting the quality of the human environment within the meaning of the National Environmental Policy Act (NEPA) OF 1969 and has issued the Finding of No Significant Impact (FONSI).

  17. Environmental Assessment on the leasing of the Strategic Petroleum Reserve, St. James Terminal, St. James Parish, Louisiana

    International Nuclear Information System (INIS)

    1995-01-01

    The US Department of Energy (DOE) proposes to lease the Strategic Petroleum Reserve's (SPR) St. James Terminal to private industry. The St. James Terminal consists of six storage tanks, a pumping station, two maine docks and ancillary facilities. DOE believes that the St. James Terminal presents an opportunity to establish a government- industry arrangement that could more effectively use this asset to serve the nations's oil distribution needs, reduce the operational cost of the SPR, and provide a source of revenue for the Government. DOE solicited interest in leasing its distribution facilities in a notice published March 16, 1994. In response, industry has expressed interest in leasing the St. James Terminal, as well as several DOE pipelines, to enhance the operation of its own facilities or to avoid having to construct new ones. Under such a lease, industry use would be subordinate to DOE use in the event of a national energy emergency. This Environmental Assessment describes the proposed leasing operation, its alternatives, and potential environmental impacts. Based on this analyses, DOE has determined that the proposed action is not a major Federal action significantly affecting the quality of the human environment within the meaning of the National Environmental Policy Act (NEPA) OF 1969 and has issued the Finding of No Significant Impact (FONSI)

  18. Pilot Study of Blood Pressure in Girls With Turner Syndrome: An Awareness Gap, Clinical Associations, and New Hypotheses.

    Science.gov (United States)

    Los, Evan; Quezada, Emilio; Chen, Zunqiu; Lapidus, Jodi; Silberbach, Michael

    2016-07-01

    Cardiovascular disease is the major factor that reduces lifespan in Turner syndrome. High blood pressure (BP) is common in Turner syndrome and is the most easily treatable cardiovascular risk factor. We studied the prevalence of elevated screening systemic BP, awareness of the problem, and its clinical associations in a large group of girls attending the annual meeting of the Turner Syndrome Society of the United States. Among 168 girls aged 2 to 17 years, 42% had elevated screening BP (systolic and diastolic), yet only 8% reported a previous diagnosis of hypertension. History of aortic coarctation repair (17%) was positively associated with elevated systolic BP (52% versus 32%; PTurner syndrome phenotype/genotype probably includes an intrinsic risk for hypertension. Obesity and repaired aortic coarctation increase this risk further. There seems to be a BP awareness gap in girls with Turner syndrome. Because girls living with Turner syndrome are a sensitized population for hypertension, further study may provide clues to genetic factors leading to a better understanding of essential hypertension in the general population. © 2016 American Heart Association, Inc.

  19. XML: James Webb Space Telescope Database Issues, Lessons, and Status

    Science.gov (United States)

    Detter, Ryan; Mooney, Michael; Fatig, Curtis

    2003-01-01

    This paper will present the current concept using extensible Markup Language (XML) as the underlying structure for the James Webb Space Telescope (JWST) database. The purpose of using XML is to provide a JWST database, independent of any portion of the ground system, yet still compatible with the various systems using a variety of different structures. The testing of the JWST Flight Software (FSW) started in 2002, yet the launch is scheduled for 2011 with a planned 5-year mission and a 5-year follow on option. The initial database and ground system elements, including the commands, telemetry, and ground system tools will be used for 19 years, plus post mission activities. During the Integration and Test (I&T) phases of the JWST development, 24 distinct laboratories, each geographically dispersed, will have local database tools with an XML database. Each of these laboratories database tools will be used for the exporting and importing of data both locally and to a central database system, inputting data to the database certification process, and providing various reports. A centralized certified database repository will be maintained by the Space Telescope Science Institute (STScI), in Baltimore, Maryland, USA. One of the challenges for the database is to be flexible enough to allow for the upgrade, addition or changing of individual items without effecting the entire ground system. Also, using XML should allow for the altering of the import and export formats needed by the various elements, tracking the verification/validation of each database item, allow many organizations to provide database inputs, and the merging of the many existing database processes into one central database structure throughout the JWST program. Many National Aeronautics and Space Administration (NASA) projects have attempted to take advantage of open source and commercial technology. Often this causes a greater reliance on the use of Commercial-Off-The-Shelf (COTS), which is often limiting

  20. Manifestações clínicas e fonoaudiológicas na Síndrome de Turner: estudo bibliográfico Clinical and speech, hearing and language pathology manifestations on Turner Syndrome: bibliographical study

    Directory of Open Access Journals (Sweden)

    Suhamy Aline Mandelli

    2012-02-01

    Full Text Available TEMA: síndrome genética e achados fonoaudiológicos. OBJETIVO: descrever as manifestações clínicas e fonoaudiológicas em indivíduos com a Síndrome de Turner CONCLUSÃO: foram levantados 23 artigos sobre a Síndrome de Turner dos quais 7 discorriam sobre a audição e suas alterações nesses indivíduos, 6 sobre linguagem receptiva e/ou expressiva e praxia, 5 sobre aspectos psicológicos e cognitivos além de 28 artigos referentes às manifestações clínicas em geral. Por meio do levantamento bibliográfico pode-se observar que as manifestações fonoaudiológicas na Síndrome de Turner são pouco estudadas e, dentro da fonoaudiologia as manifestações audiológicas como perda de audição e otites são as mais estudadas, ao contrário dos aspectos práxicos e de recepção/ expressão da linguagem.BACKGROUND: genetic syndrome and Speech, Hearing and Language Pathology findings. PURPOSE: to describe the clinical and speech, hearing and language manifestations in subjects with Turner syndrome. CONCLUSION: twenty-three articles on Turner' syndrome were collected, of which 7 described hearing and its alterations in these subjects, 6 described the receptive and/or expressive language and praxis, 5 described the psychological and cognitive aspects, besides those, 28 articles referred to the clinical manifestations. Through the literature research it was observed that speech, hearing and language manifestations of Turner syndrome are little studied and, within Speech, Hearing and Language Pathology, hearing manifestations such as hearing loss and ear infections are the most studied, unlike the issues of praxis and language reception/expression.

  1. GH treatment to final height produces similar height gains in patients with SHOX deficiency and turner syndrome: Results of a multicenter trial

    NARCIS (Netherlands)

    W.F. Blum (Werner); J.L. Ross (J.); A.G. Zimmermann (Alan); C.A. Quigley (Charmian); C.J. Child (Christopher); G. Kalifa (Gabriel); C.L. Deal (Cheri Lynn); S.L.S. Drop (Stenvert); G. Rappold (G.); G. Cutler (Gordon)

    2013-01-01

    textabstractContext: Growth impairment in short stature homeobox-containing gene (SHOX) deficiency and Turner syndrome share a similar etiology. Because of the established effect of GH treatment on height in patients with Turner syndrome, we hypothesized that GH therapy would also stimulate growth

  2. Síndrome de Parsonage-Turner: relato de caso em paciente HIV soropositivo Parsonage-Turner Syndrome: case report of a HIV seropositive patient

    Directory of Open Access Journals (Sweden)

    Saulo Gomes de Oliveira

    2010-01-01

    Full Text Available A síndrome de Parsonage-Turner é uma doença rara que acomete a musculatura da cintura escapular levando à hipotrofia muscular e grande déficit motor. A etiologia é indeterminada; acredita-se que existam fatores infecciosos e autoimunes envolvidos. O diagnóstico é de exceção, e os principais diagnósticos diferenciais são hérnias discais cervicais, lesões do manguito rotador e doenças reumáticas. Na investigação diagnóstica realizamos exames laboratoriais, radiografias e ressonância magnética dos ombros e da coluna cervical com destaque para a eletroneuromiografia auxiliando no diagnóstico definitivo. Por se tratar de uma doença raramente associada à soropositividade do vírus HIV e pela importância do diagnóstico precoce para o melhor tratamento destes pacientes é que relatamos este caso.The Parsonage-Turner Syndrome is a rare disease that affects the muscles of the scapular girdle, leading to muscular atrophy and a large motor deficit. The etiology is unknown, but it is believed that infectious and autoimmune factors are involved. The diagnosis is made by exclusion, and the main differential diagnoses are cervical disc hernias, rotator cuff injuries and rheumatic diseases. During diagnostic research, we conducted laboratory tests, radiographs and MRI of the shoulder and cervical spine, with particular reference to electroneuromyography to help generate a definitive diagnosis. This case report is presented because it shows a disease that is rarely associated with HIV seropositivity and the importance of early diagnosis for better treatment of these patients.

  3. James Clerk Maxwell: Life and science

    International Nuclear Information System (INIS)

    Marston, Philip L.

    2016-01-01

    Maxwell's life and science are presented with an account of the progression of Maxwell's research on electromagnetic theory. This is appropriate for the International Year of Light and Light-based Technologies, 2015. Maxwell's own confidence in his 1865 electromagnetic theory of light is examined, along with some of the difficulties he faced and the difficulties faced by some of his followers. Maxwell's interest in radiation pressure and electromagnetic stress is addressed, as well as subsequent developments. Some of Maxwell's other contributions to physics are discussed with an emphasis on the kinetic and molecular theory of gases. Maxwell's theistic perspective on science is illustrated, accompanied by examples of perspectives on Maxwell and his science provided by his peers and accounts of his interactions with those peers. Appendices examine the peer review of Maxwell's 1865 electromagnetic theory paper and the naming of the Maxwell Garnett effective media approximation and provide various supplemental perspectives. From Maxwell's publications and correspondence there is evidence he had a high regard for Michael Faraday. Examples of Maxwell's contributions to electromagnetic terminology are noted. - Highlights: • Maxwell’s 1865 “Dynamical theory of the electromagnetic field” is examined. • Maxwell affirmed confidence in his electromagnetic wave theory in his 1873 Treatise. • Discussion includes views and unpublished correspondence of Maxwell's contemporaries. • His contemporaries noticed the depth and breadth of Maxwell’s thought. • Maxwell’s contemporaries noticed his theistic perspective concerning science.

  4. Generation of an induced pluripotent stem cell line from chorionic villi of a Turner syndrome spontaneous abortion.

    Science.gov (United States)

    Parveen, Shagufta; Panicker, M M; Gupta, Pawan Kumar

    2017-03-01

    A major cause of spontaneous abortions is chromosomal abnormality of foetal cells. We report the generation of an induced pluripotent stem cell line from the fibroblasts isolated from chorionic villi of an early spontaneously aborted foetus with Turner syndrome. The Turner syndrome villus induced pluripotent stem cell line is transgene free, retains the original XO karyotype, expresses pluripotency markers and undergoes trilineage differentiation. This pluripotent stem cell model of Turner syndrome should serve as a tool to study the developmental abnormalities of foetus and placenta that lead to early embryo lethality and profound symptoms like infertility in 45 XO survivors. Copyright © 2016 The Authors. Published by Elsevier B.V. All rights reserved.

  5. Aortic dilatation in patients with Turner's syndrome without structural cardiac anomaly.

    Science.gov (United States)

    Alami Laroussi, Nassiba; Dahdah, Nagib; Dallaire, Frédéric; Thérien, Johanne; Fournier, Anne

    2016-03-01

    Dilatation of the ascending aorta is described in Turner's syndrome with variable prevalence (6.8-32%). Reported series typically include patients with associated cardiac anomalies. To characterise the prevalence, age of onset, and the progress of dilatation of the ascending aorta in Turner's syndrome patients free of structural cardiac anomalies. Potential risk factors such as karyotype and growth hormone therapy were analysed for correlation with aortic dilatation. We carried out a retrospective study with data collected from medical records and echocardiography studies. Patients with Tuner's syndrome followed-up between 1992 and 2010 with at least two echocardiography studies were eligible. Patients with previous cardiac surgery or under anti-hypertensive medication were excluded. Ascending aorta diameter measurements were adjusted for body surface area, and dilatation was defined as Z-score>2. The study population consisted of 44 patients, aged 11.9±7.4 years at the first echocardiogram and 17.9±7.3 years at the last follow-up, with a follow-up duration of 6.0±3.7 years. A total of 13 (29.5%) patients exhibited aortic dilatation during follow-up, suggesting an actuarial estimate of the freedom from aortic dilatation dropping from 86 to 70% and then to 37% at 10, 20, and 30 years of age, respectively. There was no statistically significant impact of karyotype or growth hormone therapy on aortic Z-score progression. The prevalence of dilatation of the ascending aorta in Turner's syndrome patients free of structural aortic anomalies is comparable with published data with associated lesions. Growth hormone therapy and karyotype had no significant impact; however, longitudinal follow-up is warranted.

  6. Design Features of Hardening Turners with Outstripping Plastic Deformation

    Directory of Open Access Journals (Sweden)

    V. M. Yaroslavtsev

    2014-01-01

    Full Text Available An efficiency of the cutting method with outstripping plastic deformation (OPD in lathe works is defined in many respects by design features of the add-on devices for mechanical hardening of a cut-off layer material in the course of cutting. Applied on lathes, deforming OPD devices can have differing dimensions, placement on the lathe, drive type (manual, electric, hydraulic, pneumatic, pneumohydraulic, electromagnetic, and autonomy degree towards the metalcutting equipment and industrial equipment.At the same time there are a number of inherent design features of work-hardening devices the modernized lathes with OPD use for machining. Now the OPD standard devices implement two principle construction options: loading device is placed on the machine or on the OPD slide support separate of the tool, or it is structurally aligned with the cutting tool. In the latter case the OPD device for turning is called a tool mandrel, which is mounted in a tool post of the machine or, at large dimensions, such a mandrel is mounted on the machine instead of the tool mandrel.When designing the OPD devices, is important to take into consideration production requirements and recommendations for the technological equipment, developed in the course of creation, working off and introduction of such installations for mechanical hardening of material. In compliance with it, OPD devices, their placement on the machine, and working displacements shouldn't limit technological capabilities of the applied metal-cutting equipment. OPD stresses have to be smoothly regulated, with maximum loads being limited to admissible values for the machine model to be modernized. It is necessary to ensure synchronized longitudinal and cross displacements of the cutting tool and OPD hardener with respect to the axis of billet rotation to enable regulation and readjustment of the hardener and tool placement. It ought to foresee the increased mobile components rigidity and manufacturing

  7. A case report of severe panhypopituitarism in a newborn delivered by a women with Turner syndrome.

    Science.gov (United States)

    Olszewska, Marta; Kiełbasa, Grzegorz; Wójcik, Małgorzata; Zygmunt-Górska, Agata; Starzyk, Jerzy B

    2015-01-01

    Turner syndrome (TS) is a congenital disease caused by absence or structural abnormalities of sex chromosomes resulting in gonadal dysgenesis. Spontaneous pregnancies occur in 2-8% of patients, especially with mosaic kariotypes, however they are associated with increased risk of poor outcome both for mother and fetus. We report a 4-day-old male infant delivered by women with mosaic TS who was admitted to the pediatric intensive care unit and presented with severe panhypopituitarism as the early manifestation of pituitary stalk interruption syndrome (PSIS). To the best of our knowledge this is the first report of severe panhypopituitarism in a newborn borne by women with TS.

  8. Multiple cerebral cavernous malformations in a pediatric patient with Turner syndrome

    Directory of Open Access Journals (Sweden)

    Nicholas T. Gamboa, B.S.

    2017-12-01

    Full Text Available Turner syndrome (TS; 45,X0 is a relatively common chromosomal disorder that is associated with characteristic phenotypic stigmata: short stature, webbed neck, broad (“shield” chest with widely spaced nipples, cubitus valgus, ovarian dysgenesis (“streak ovary”, primary amenorrhea, renal anomalies, lymphedema of the hands or feet, and various vascular abnormalities. Abnormalities of the cardiovascular system are commonly reported in patient with TS, and vascular anomalies affecting various other organ systems are also frequently reported. To date, however, few reports of intracranial vascular malformations exist. The authors report the case of a patient with TS who was found to have multiple cerebral cavernous malformations on imaging.

  9. During childhood unrecognized congenital heart defect in patient with Turner syndrome, and its implications

    International Nuclear Information System (INIS)

    Klaskova, E.; Kapralova, S.; Zapletalova, J.; Tuedoes, Z.

    2015-01-01

    Congenital heart disease affects approximately 50 % of individuals with Turner syndrome (TS). Bicuspid aortic valve, aortic coarctation, ascending aorta dilatation and arterial hypertension are important risk factors for life-threatening aortic dissection or rupture. Authors discuss the importance of a careful cardiac examination including cardiac magnetic resonance imaging study and life-long follow-up by experienced cardiologist in TS patients, and point out high maternal mortality and morbidity during pregnancy. They present a case report of woman with TS and the above-mentioned in childhood unrecognized congenital heart defects that underwent infertility treatment without pre conceptional counselling focused on cardiovascular risk for aortic dissection. (author)

  10. Long QT interval in Turner syndrome: a high prevalence of LQTS gene mutations

    DEFF Research Database (Denmark)

    Trolle, Christian

    Objective: QT interval prolongation of unknown aetiology is common in Turner syndrome (TS). This study set out to explore the presence of known pathogenic long QT (LQT) mutations in TS and to examine the corrected QT interval (QTc) over time and relate the findings to the TS phenotype. Methods......QTc). The prevalence of mutations in genes related to Long QT syndrome (LQTS) was determined in females with TS and a QTc >432.0 milliseconds (ms). Echocardiographic assessment of aortic valve morphology, 24-hour blood pressures and blood samples were done. Results: The mean hQTc in females with TS (414.0±25.5 ms...

  11. The Turner syndrome in patient with 45X/47XXX mosaic karyotype--case report.

    Science.gov (United States)

    Maciejewska-Jeske, Marzena; Czyzyk, Adam; Meczekalski, Blazej

    2015-07-01

    Turner syndrome (TS) is a gonadal dysgenesis related to partial or total lack of one of the X chromosomes. It this report we describe a young patient presenting some somatic features of TS, who underwent spontaneous puberty and was eumenoorheic up to the age of 23. Using fluorescent in situ hybridization (FISH) mosaic karyotype (45X[131]/47XXX[9]) of TS and triple X syndrome was found. She presented uncommon for TS somatic hemihypotrophy and underwent growth hormone and surgical therapy. The patient was diagnosed with premature ovarian failure when she was 23, with absent follicular reserve. Clinical features of this case and a few published cases will be reviewed briefly.

  12. Mondini deformity in a case of Turner syndrome. A radiological finding.

    Science.gov (United States)

    Bodet Agustí, Eduard; Galido Ortego, Xavier; Ghani Martínez, Fares; García González, Begoña; Borràs Perera, Montserrat; Seara Gil, Angel

    2012-01-01

    Turner syndrome (TS) is the human being's most frequent sex chromosome abnormality. Progressive sensorineural hearing loss is documented in more than 50% of the women affected by this syndrome. Although Mondini defect is the cochlear congenital malformation most frequently identified in other polymalformative syndromes, it has rarely been reported in TS. We describe the case of a 32-year-old woman with TS who presented progressive sensorineural hearing loss. The computed tomography of the ears showed bilateral Mondini deformity. Copyright © 2010 Elsevier España, S.L. All rights reserved.

  13. Die Another Day, James Bond's smoking over six decades.

    Science.gov (United States)

    Wilson, Nick; Tucker, Anne

    2016-09-01

    We aimed to examine smoking-related content in all 24 James Bond movies in the Eon Productions series from 1962 to 2015. There were favourable downward trends for any smoking by James Bond (p=0.015 for trend), and for tobacco-related spy-gadgetry (p=0.009). Around 20% of Bond's 60 sexual partners smoked in each decade, and most recently in 2012. There were regular mentions of smoking risks to health (starting from 1967) and product placement of branded packs was present in two movies. Overall, the persisting smoking content remains problematic from a public health perspective, especially given the popularity of this movie series. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/.

  14. James Madison and a Shift in Precipitation Seasonality

    Science.gov (United States)

    Druckenbrod, D. L.; Mann, M. E.; Stahle, D. W.; Cleaveland, M. K.; Therrell, M. D.; Shugart, H. H.

    2001-12-01

    An eighteen-year meteorological diary and tree ring data from James Madison's Montpelier plantation provide a consistent reconstruction of early summer and prior fall rainfall for the 18th Century Virginia piedmont. The Madison meteorological diary suggests a seasonal shift in monthly rainfall towards an earlier wet season relative to 20th Century norms. Furthermore, dendroclimatic reconstructions of early summer and prior fall rainfall reflect this shift in the seasonality of summer rainfall. The most pronounced early summer drought during the Madison diary period is presented as a case study. This 1792 drought occurs during one of the strongest El Niño events on record and is highlighted in the correspondence of James Madison.

  15. Solar System Observations with the James Webb Space Telescope

    OpenAIRE

    Norwood, James; Hammel, Heidi; Milam, Stefanie; Stansberry, John; Lunine, Jonathan; Chanover, Nancy; Hines, Dean; Sonneborn, George; Tiscareno, Matthew; Brown, Michael; Ferruit, Pierre

    2014-01-01

    The James Webb Space Telescope will enable a wealth of new scientific investigations in the near- and mid-infrared, with sensitivity and spatial/spectral resolution greatly surpassing its predecessors. In this paper, we focus upon Solar System science facilitated by JWST, discussing the most current information available concerning JWST instrument properties and observing techniques relevant to planetary science. We also present numerous example observing scenarios for a wide variety of Solar...

  16. La racionalidad imperialista en la monumental obra de James Mill

    Directory of Open Access Journals (Sweden)

    Homero Cuevas

    2011-06-01

    Full Text Available Este ensayo, parte de un trabajo más extenso sobre la dominación internacional en la economía mundial, revisa los procesos más relevantes para el análisis teórico tomando como referencia La historia de la India británica de James Mill, obra que es un hito en este campo y es la base de todas las teorías posteriores

  17. Benign Phyllodes Tumor Mimicking a Malignancy in a Turner Syndrome Woman with Hormone Replacement Therapy: A Case Report

    International Nuclear Information System (INIS)

    Lee, Woong Jae; Chong, Se Min; Pang, Jae Choon; Seo, Jae Seung; Byun, Jun Soo; Seok, Ju Won; Shin, Hee Jung; Gong, Gyung Yub

    2010-01-01

    Phyllodes tumor of the breast is a relatively rare fibroepithelial tumor. Turner syndrome is a condition that affects approximately 50 per 100,000 females and includes total or partial absence of one X chromosome in all or part of the cells, reduced final height, absence of female sex hormone, and infertility. In this case report, we describe the first case of a benign phyllodes tumor mimicking a malignancy at breast US in a 26-year-old woman with Turner syndrome who had been undergoing hormone replacement therapy

  18. Benign Phyllodes Tumor Mimicking a Malignancy in a Turner Syndrome Woman with Hormone Replacement Therapy: A Case Report

    Energy Technology Data Exchange (ETDEWEB)

    Lee, Woong Jae; Chong, Se Min; Pang, Jae Choon; Seo, Jae Seung; Byun, Jun Soo; Seok, Ju Won [Chung-Ang University Medical Center, Chung-Ang University College of Medicine, Seoul (Korea, Republic of); Shin, Hee Jung; Gong, Gyung Yub [Asan Medical Center, University of Ulsan College of Mdeicine, Seoul (Korea, Republic of)

    2010-12-15

    Phyllodes tumor of the breast is a relatively rare fibroepithelial tumor. Turner syndrome is a condition that affects approximately 50 per 100,000 females and includes total or partial absence of one X chromosome in all or part of the cells, reduced final height, absence of female sex hormone, and infertility. In this case report, we describe the first case of a benign phyllodes tumor mimicking a malignancy at breast US in a 26-year-old woman with Turner syndrome who had been undergoing hormone replacement therapy

  19. Obituary: James H. "Trex" Trexler, 1918-2005

    Science.gov (United States)

    Barker, Ed

    2007-12-01

    James H. "Trex" Trexler, Naval Center for Space Technology, a retired scientist and astronomer, with a 50-year career at NRL died of cancer on October 22, 2005, at the age of 87. Born in Missoula, Montana (May 18, 1918), he grew up in Dallas, Texas, and attended Southern Methodist University (SMU) Engineering School. He combined his interests in astronomy and radio communication and operated the observatory on the SMU campus. Mr. Trexler had a most interesting and rewarding career at NRL, which resulted in notable contributions in scientific and technical developments. While at SMU, he worked on a government-sponsored project on radio detection and tracking of meteors. This work resulted in a call from NRL in 1942 to join the Navy radio detection effort being mounted against the German submarine Wolf Packs that were harassing our North Atlantic convoys on the supply routes to our European Allies. The program proved highly successful causing the breakup of the German Pack operation, and resulted in the sinking and capturing of many U-boats. After World War II, Trex and H. O. Lorenzen brought the German Navy's very advanced Wullenweber Direction Finder back to NRL, and rebuilt it at the Washington Coast Guard Station, south of Alexandria. It served as the prototype for the Direction Finder at the heart of the Navy and Air Force intercept networks and later as the first tracker of the Soviet Sputnik. He received the Navy Meritorious Civilian Service Award for his efforts. In the late l940s, Trex built the radar intercept equipment for the Navy's P4M Airborne Cold War Ferret Program. This capability provided instantaneous frequency and direction of arrival against Soviet radars from high-altitude flights along the Soviet borders. His Radio Physics Branch developed a surface mobile intercept system deployed to the Near East for which the Navy made the first group cash incentive award. With the beginning of the space age, his branch examined the moon as a possible

  20. Early lessons from the Turner Valley Gas Plant: 'those smoke stacks got a lot of it'

    Energy Technology Data Exchange (ETDEWEB)

    Finch, D.

    2002-06-01

    Lessons learned (or not learned) since 1924 in Turner Valley in conjunction with the Royalite No. 4, Alberta's famous runaway well, is told. Initially the gas from this well contained 700 grains of hydrogen sulphide per 100 cubic feet of gas, delivered at such high pressure that no compression was necessary until 1938. Various technologies had been tried to scrub the gas, including a soda ash solution trickled down over a trellis of redwood grids in steel towers, absorbing the hydrogen sulphide. As early as 1925, the plant scrubbed 97 per cent of hydrogen sulphide from 45 million cubic feet of gas per day, making it the largest gas scrubbing plant in the world. However, the hydrogen sulphide scrubbed from the gas stream was being pumped out of twin 123-feet tall towers, and discharged into the atmosphere. At least one death is known to have been caused by the hydrogen sulphide, however, it is suspected that many more deaths have occurred on the ranches and homesteads located downwind from the plant, since people there breathed diluted hydrogen sulphide for 27 years. Royalite finally built a sulphur plant and began manufacturing elemental sulphur from the deadly gas processing byproduct. The issue of flaring has been a matter of serious concern in Alberta for a long time. Governments have made a variety of promises, usually prior to elections, to hold the industry to higher environmental standards, but such promises invariably last only a short time. Sooner or later every government appears to succumb to industry demands; after all, a large part of the provincial economy relies on the oil patch, and a significant portion of the provincial budget comes from direct and indirect taxation of the oil industry, the goose that lays the golden egg. To seriously deal with the issue of flaring, Albertans will need substantial changes in the management of the province.

  1. Development of disease-specific growth charts in Turner syndrome and Noonan syndrome

    Directory of Open Access Journals (Sweden)

    Tsuyoshi Isojima

    2017-12-01

    Full Text Available Many congenital diseases are associated with growth failure, and patients with these diseases have specific growth patterns. As the growth patterns of affected individuals differ from those of normal populations, it is challenging to detect additional conditions that can influence growth using standard growth charts. Disease-specific growth charts are thus very useful tools and can be helpful for understanding the growth pattern and pathogenesis of congenital diseases. In addition, disease-specific growth charts allow doctors to detect deviations from the usual growth patterns for early diagnosis of an additional condition and can be used to evaluate the effects of growth-promoting treatment for patients. When developing these charts, factors that can affect the reliability of the charts should be considered. These factors include the definition of the disease with growth failure, selection bias in the measurements used to develop the charts, secular trends of the subjects, the numbers of subjects of varying ages and ethnicities, and the statistical method used to develop the charts. In this review, we summarize the development of disease-specific growth charts for Japanese individuals with Turner syndrome and Noonan syndrome and evaluate the efforts to collect unbiased measurements of subjects with these diseases. These charts were the only available disease-specific growth charts of Turner syndrome and Noonan syndrome for Asian populations and were developed using a Japanese population. Therefore, when these charts are adopted for Asian populations other than Japanese, different growth patterns should be considered.

  2. Cardiovascular assessment of patients with Ullrich-Turner's Syndrome on Doppler echocardiography and magnetic resonance imaging

    Directory of Open Access Journals (Sweden)

    Castro Ana Valéria Barros de

    2002-01-01

    Full Text Available OBJECTIVE: To assess the cardiovascular features of Ullrich-Turner's syndrome using echocardiography and magnetic resonance imaging, and to correlate them with the phenotype and karyotype of the patients. The diagnostic concordance between the 2 methods was also assessed. METHODS: Fifteen patients with the syndrome were assessed by echocardiography and magnetic resonance imaging (cardiac chambers, valves, and aorta. Their ages ranged from 10 to 28 (mean of 16.7 years. The karyotype was analyzed in 11 or 25 metaphases of peripheral blood lymphocytes, or both. RESULTS: The most common phenotypic changes were short stature and spontaneous absence of puberal development (100%; 1 patient had a cardiac murmur. The karyotypes detected were as follows: 45,X (n=7, mosaics (n=5, and deletions (n=3. No echocardiographic changes were observed. In regard to magnetic resonance imaging, coarctation and dilation of the aorta were found in 1 patient, and isolated dilation of the aorta was found in 4 patients. CONCLUSION: The frequencies of coarctation and dilation of the aorta detected on magnetic resonance imaging were similar to those reported in the literature (5.5% to 20%, and 6.3% to 29%, respectively. This confirmed the adjuvant role of magnetic resonance imaging to Doppler echocardiography for diagnosing cardiovascular alterations in patients with Ullrich-Turner's syndrome.

  3. Development of disease-specific growth charts in Turner syndrome and Noonan syndrome.

    Science.gov (United States)

    Isojima, Tsuyoshi; Yokoya, Susumu

    2017-12-01

    Many congenital diseases are associated with growth failure, and patients with these diseases have specific growth patterns. As the growth patterns of affected individuals differ from those of normal populations, it is challenging to detect additional conditions that can influence growth using standard growth charts. Disease-specific growth charts are thus very useful tools and can be helpful for understanding the growth pattern and pathogenesis of congenital diseases. In addition, disease-specific growth charts allow doctors to detect deviations from the usual growth patterns for early diagnosis of an additional condition and can be used to evaluate the effects of growth-promoting treatment for patients. When developing these charts, factors that can affect the reliability of the charts should be considered. These factors include the definition of the disease with growth failure, selection bias in the measurements used to develop the charts, secular trends of the subjects, the numbers of subjects of varying ages and ethnicities, and the statistical method used to develop the charts. In this review, we summarize the development of disease-specific growth charts for Japanese individuals with Turner syndrome and Noonan syndrome and evaluate the efforts to collect unbiased measurements of subjects with these diseases. These charts were the only available disease-specific growth charts of Turner syndrome and Noonan syndrome for Asian populations and were developed using a Japanese population. Therefore, when these charts are adopted for Asian populations other than Japanese, different growth patterns should be considered.

  4. Chromosomal sensitivity to X-rays in lymphocytes from patients with Turner syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Heras, J G; Coco, R

    1986-03-01

    Lymphocytes from patients with Turner syndrome were irradiated with X-rays to determine the chromosomal aberration frequency in first-division metaphases. Five patients with 45,X karyotype; three 45,X/46,Xi(X)q mosaics; one 45,X/47,XXX mosaic and 9 female controls were studied. Patients with a 45,X karyotype exhibited a radioinduced chromosomal aberration frequency similar to controls. In the mosaics, 45,X cells has a mean frequency of 38.75 +- 2.16; 46,Xi(X)q cells a mean of 38 +- 2.16 and the control group a rate of 36.25 +- 4.32. No differences were observed between 45,X and 46,Xi(X)q cells, 45,X and normal cells or 46,Xi(X)q and normal cells. Apparently neither the X monosomy nor the Xq isochromosome influences the in vitro X-ray-induced chromosomal damage in Turner syndrome lymphocytes. (Auth.). 29 references, 4 tables.

  5. Improving self-esteem in women diagnosed with Turner syndrome: results of a pilot intervention.

    Science.gov (United States)

    Chadwick, Paul M; Smyth, Arlene; Liao, Lih-Mei

    2014-06-01

    To evaluate a brief intervention to improve the self esteem of women diagnosed with Turner syndrome (TS). Prospective observational study. Turner Syndrome Support Society, UK. 30 women aged 18-60 years. A 1-day psychology workshop targeting problems of self-esteem in women diagnosed with TS. The workshop drew on cognitive-behavioral therapy and narrative therapy skills and emphasized increased self-awareness of interpersonal difficulties and improved capacity for self-management. Rosenberg Self-esteem Scale (RSS); Hospital Anxiety and Depression Scale (HADS); bespoke user experiences questionnaire. All 30 women provided baseline data, 27/30 provided immediate post-intervention data and 22/30 provided follow-up data at 3 months. The intervention improved RSS and HADS scores at 3 months. Generic skills-based psychological interventions have the potential to be adapted to provide brief and low-cost interventions to improve self-esteem and reduce psychological distress in women diagnosed with TS. Copyright © 2014 North American Society for Pediatric and Adolescent Gynecology. Published by Elsevier Inc. All rights reserved.

  6. 'Who is wise and understanding among you' (James 3: 13? An analysis of wisdom, eschatology and apocalypticism in the epistle of James

    Directory of Open Access Journals (Sweden)

    Patrick J. Hartin

    1997-12-01

    Full Text Available Three questions form the basis of this analysis of the relationship of the Epistle of James to the traditions of wisdom, eschatology and apocalypticism. What kind of traditions are involved in James? What is the world view of James? What audience or community is presupposed by this writing? Foremost is the connection that James demonstrates to the wisdom tradition evident in the Old Testament and extratestamental literature. In particular two types of wisdom tradition are noted in James: practical wisdom advice as expressed in short sayings, wisdom instructions and admonitions and reflection on the nature of wisdom (1:5-8; 2:1-7; and 3:13-18 as coming from God. Finally, the question of how much apocalyptic symbolism is evident in the eschatological world view of the epistle is addressed.

  7. Teaching about Race and Social Action by 'Digging up the Past': The Mary Turner Project

    Science.gov (United States)

    George, Mark Patrick; Williams, Dana M.

    2018-01-01

    This paper explores how incorporating localized historical acts of racial injustice into Sociology courses can have a variety of pedagogical and social impacts. The use of one such event, the 1918 lynching of 13 people in South Georgia, led to the formation of the Mary Turner Project (MTP). We document the organization's work as well as its impact…

  8. Estrogen and hearing from a clinical point of view; characteristics of auditory function in women with Turner syndrome.

    Science.gov (United States)

    Hederstierna, Christina; Hultcrantz, Malou; Rosenhall, Ulf

    2009-06-01

    Turner syndrome is a chromosomal aberration affecting 1:2000 newborn girls, in which all or part of one X chromosome is absent. This leads to ovarial dysgenesis and little or no endogenous estrogen production. These women have, among many other syndromal features, a high occurrence of ear and hearing problems, and neurocognitive dysfunctions, including reduced visual-spatial abilities; it is assumed that estrogen deficiency is at least partially responsible for these problems. In this, study 30 Turner women aged 40-67, with mild to moderate hearing loss, performed a battery of hearing tests aimed at localizing the lesion causing the sensorineural hearing impairment and assessing central auditory function, primarily sound localization. The results of TEOAE, ABR and speech recognition scores in noise were all indicative of cochlear dysfunction as the cause of the sensorineural impairment. Phase audiometry, a test for sound localization, showed mild disturbances in the Turner women compared to the reference group, suggesting that auditory-spatial dysfunction is another facet of the recognized neurocognitive phenotype in Turner women.

  9. Rethinking "Turner v. Keefe": The Parallel Mobilization of African-American and White Teachers in Tampa, Florida, 1936-1946

    Science.gov (United States)

    Shircliffe, Barbara J.

    2012-01-01

    In 1941, members of the local unit of the Florida State Teachers Association (FSTA) met in Tampa to plan a lawsuit against Hillsborough County's school board for paying African-American teachers less than white teachers. Hilda Turner, who taught history and economics at Tampa's historically black high school, agreed to serve as plaintiff; she was…

  10. Compromised trabecular microarchitecture and lower finite element estimates of radius and tibia bone strength in adults with turner syndrome

    DEFF Research Database (Denmark)

    Hansen, Stinus; Brixen, Kim; Gravholt, Claus H

    2012-01-01

    Although bone mass appear ample for bone size in Turner syndrome (TS), epidemiological studies have reported an increased risk of fracture in TS. We used high-resolution peripheral quantitative computed tomography (HR-pQCT) to measure standard morphological parameters of bone geometry...

  11. Overlapping Numerical Cognition Impairments in Children with Chromosome 22q11.2 Deletion or Turner Syndromes

    Science.gov (United States)

    Simon, T. J.; Takarae, Y.; DeBoer, T.; McDonald-McGinn, D. M.; Zackai, E. H.; Ross, J. L.

    2008-01-01

    Children with one of two genetic disorders (chromosome 22q11.2 deletion syndrome and Turner syndrome) as well typically developing controls, participated in three cognitive processing experiments. Two experiments were designed to test cognitive processes involved in basic aspects numerical cognition. The third was a test of simple manual motor…

  12. Dosage of estradiol, bone and body composition in Turner syndrome: a 5-year randomized controlled clinical trial

    DEFF Research Database (Denmark)

    Cleemann, Line; Holm, Kirsten; Kobbernagel, Hanne

    2017-01-01

    OBJECTIVE: Reduced bone mineral density (BMD) is seen in Turner syndrome (TS) with an increased risk of fractures, and body composition is characterized by increased body fat and decreased lean body mass. To evaluate the effect of two different doses of oral 17ß-estradiol in young TS women on bone...

  13. Uterus and ovaries in girls and young women with Turner syndrome evaluated by ultrasound and magnetic resonance imaging

    DEFF Research Database (Denmark)

    Cleemann, Line; Holm, Kirsten; Fallentin, Eva

    2011-01-01

    Objective To determine uterine and ovarian size in Turner syndrome (TS) and to compare uterine and ovarian size evaluated by transabdominal ultrasound (US) and magnetic resonance imaging (MRI) in girls with TS and two groups of controls. Design A cross-sectional study. Patients Forty-one girls...

  14. The effect of oxandrolone on body proportions and body composition in growth hormone-treated girls with Turner syndrome.

    NARCIS (Netherlands)

    Menke, L.A.; Sas, T.C.J.; Zandwijken, G.R.; Ridder, M.A. de; Stijnen, T.; Muinck Keizer-Schrama, S.M.P.F. de; Otten, B.J.; Wit, J.M.

    2010-01-01

    OBJECTIVE: Untreated girls with Turner syndrome (TS) have short stature, relatively broad shoulders, a broad pelvis, short legs, a high fat mass and low muscle mass. Our objective was to assess the effect of the weak androgen oxandrolone (Ox) on body proportions and composition in growth hormone

  15. Karyotype-specific ear and hearing problems in young adults with turner syndrome and the effect of oxandrolone treatment

    NARCIS (Netherlands)

    Verver, E.J.; Freriks, K.; Sas, T.C.J.; Huygen, P.L.M.; Pennings, R.J.E.; Smeets, D.F.C.M.; Hermus, A.R.M.M.; Menke, L.A.; Wit, J.M.; Otten, B.J.; Velden, J.A.M. van der; Keizer-Schrama, S.M.; Topsakal, V.; Admiraal, R.J.C.; Timmers, H.J.L.M.; Kunst, H.P.M.

    2014-01-01

    OBJECTIVE: To evaluate karyotype-specific ear and hearing problems in young-adult patients with Turner syndrome (TS) and assess the effects of previous treatment with oxandrolone (Ox). STUDY DESIGN: Double-blind follow-up study. SETTING: University hospital. PATIENTS: Sixty-five TS patients (mean

  16. Cryogenic Photogrammetry and Radiometry for the James Webb Space Telescope Microshutters

    Science.gov (United States)

    Chambers, Victor J.; Morey, Peter A.; Zukowski, Barbara J.; Kutyrev, Alexander S.; Collins, Nicholas R.

    2012-01-01

    The James Webb Space Telescope (JWST) relies on several innovations to complete its five year mission. One vital technology is microshutters, the programmable field selectors that enable the Near Infrared Spectrometer (NIRSpec) to perform multi-object spectroscopy. Mission success depends on acquiring spectra from large numbers of galaxies by positioning shutter slits over faint targets. Precise selection of faint targets requires field selectors that are both high in contrast and stable in position. We have developed test facilities to evaluate microshutter contrast and alignment stability at their 35K operating temperature. These facilities used a novel application of image registration algorithms to obtain non-contact, sub-micron measurements in cryogenic conditions. The cryogenic motion of the shutters was successfully characterized. Optical results also demonstrated that shutter contrast far exceeds the NIRSpec requirements. Our test program has concluded with the delivery of a flight-qualified field selection subsystem to the NIRSpec bench.

  17. Pheochromocytoma as a rare cause of hypertension in a 46 X, i(X)(q10) turner syndrome: a case report and literature review.

    Science.gov (United States)

    Shin, Ji Yeon; Kim, Bo Hyun; Kim, Young Keum; Kim, Tae Hwa; Kim, Eun Heui; Lee, Min Jin; Kim, Jong Ho; Jeon, Yun Kyung; Kim, Sang Soo; Kim, In Joo

    2018-05-10

    Cardiovascular disease (CVD) presents the most serious health problems and contributes to the increased mortality in young women with Turner syndrome. Arterial hypertension in Turner syndrome patients is significantly more prevalent than that in a general age-matched control group. The aetiology of hypertension in Turner syndrome varies, even in the absence of cardiac anomalies and obvious structural renal abnormalities. Pheochromocytoma is an extremely rare cause among various etiologies for hypertension in patients with Turner syndrome. Here, we reported a pheochromocytoma as a rare cause of hypertension in Turner syndrome patient. A 21-year-old woman who has diagnosed with Turner syndrome with a karyotype of 46,X,i(X)(q10) visited for hypertension and mild headache. Transthoracic echography (TTE) showed no definite persistent ductus arteriosus shunt flow and cardiac valve abnormalities. Considering other important secondary causes like pheochromocytoma, hormonal studies were performed and the results showed increased serum norepinephrine, serum normetanephrine, and 24 h urine norepinephrine. We performed an abdominal computed tomography (CT) to confirm the location of pheochromocytoma. Abdominal CT showed a 1.9 cm right adrenal mass. I-131 meta-iodobenzylguanidine (MIBG) scintigraphy showed a right adrenal uptake. Laparoscopic adrenalectomy was performed and confirmed a pheochromocytoma. After surgery, blood pressure was within normal ranges and postoperative course was uneventful, and no recurrence developed via biochemical tests and abdominal CT until 24 months. Our case and previous literatures suggest that hypertension caused by pheochromocytoma which is a rare but important and potentially lethal cause of hypertension in Turner syndrome. This case underlines the importance of early detection of pheochromocytoma in Turner syndrome. Clinicians should keep in mind that pheochromocytoma can be a cause of hypertension in patients with Turner syndrome.

  18. Síndrome de Turner e polimorfismo genético: uma revisão sistemática

    Directory of Open Access Journals (Sweden)

    Alessandra Bernadete Trovó de Marqui

    2015-09-01

    Full Text Available ResumoObjetivo:Apresentar os principais resultados dos estudos que investigaram polimorfismos genéticos em síndrome de Turner, bem como sua associação com alguns sinais clínicos e etiologia desse distúrbio cromossômico.Fontes de dados:Revisão bibliográfica feita no PubMed, sem limite de período, com os seguintes termos: Turner syndrome and genetic polymorphism. Foram identificados 116 artigos e, de acordo com os critérios de inclusão e exclusão, 17 foram selecionados para leitura.Síntese dos dados:Os polimorfismos investigados em pacientes com síndrome de Turner estavam relacionados com déficit de crescimento, que causou baixa estatura, densidade mineral óssea baixa, autoimunidade e anomalias cardíacas, que podem estar presentes com frequências significativas nas pacientes. Também foi verificado o papel dos polimorfismos de único nucleotídeo (SNPs na etiologia da síndrome de Turner, ou seja, na não disjunção cromossômica.Conclusões:Os polimorfismos genéticos parecem estar associados à síndrome de Turner. Entretanto, por conta dos poucos estudos publicados e dos achados contraditórios, pesquisas em diferentes populações são necessárias para esclarecer o papel dessas variantes genéticas para os sinais clínicos e a etiologia do distúrbio cromossômico.

  19. Bollasina Receives 2013 James R. Holton Junior Scientist Award: Response

    Science.gov (United States)

    Bollasina, Massimo A.

    2014-08-01

    I am deeply honored to have been selected as this year's recipient of the James R. Holton Junior Scientist Award, and I receive it with heartfelt gratitude and humility. I clearly remember Peter Webster's call announcing the amazing news and how I literally remained speechless and overwhelmed. I would like to express my sincere appreciation to the Atmospheric Sciences section of AGU and the members of the award committee. I am even more appreciative to have been presented this award handed by two outstanding scientists—Peter Webster and Bill Lau—who have remarkably contributed to our understanding of the Asian monsoon and tropical climate, my area of expertise.

  20. James Van Allen The First Eight Billion Miles

    CERN Document Server

    Foerstner, Abigail

    2009-01-01

    Astrophysicist and space pioneer James Van Allen (1914-2006), for whom the Van Allen radiation belts were named, was among the principal scientific investigators for twenty-four space missions, including Explorer I in 1958, the first successful U.S. satellite; Mariner 2's 1962 flyby of Venus, the first successful mission to another planet; and the 1970's Pioneer 10 and Pioneer 11, missions that surveyed Jupiter and Saturn. Abigail Foerstner blends space science, drama, military agenda's, cold war politics, and the events of Van Allen's lengthy career to create the first biography of this highl

  1. James Baldwin: Biographical Dispatches on a Freedom Writer

    Directory of Open Access Journals (Sweden)

    Phillip Luke Sinitiere

    2016-12-01

    Full Text Available This essay presents the idea of James Baldwin as a freedom writer, the organizing idea of my biography in progress. As a freedom writer, Baldwin was a revolutionary intellectual, an essayist and novelist committed unfailingly to the realization of racial justice, interracial political equality, and economic democracy. While the book is still in process, this short essay narrates autobiographically how I came to meet and know Baldwin’s work, explains in critical fashion my work in relation to existing biographies, and reflects interpretively my thoughts-in- progress on this fascinating and captivating figure of immense historical and social consequence.

  2. Compensation and translation: James Ellroy’s White Jazz

    Directory of Open Access Journals (Sweden)

    Daria Protopopescu

    2008-01-01

    Full Text Available The current paper explores the Romanian translation of James Ellroy’s text “White Jazz”, with a view to explaining away the translator’s choices. The main issues at hand are the solutions provided for the ellipsis present throughout the novel and the slang used by the author, which is typical of L.A.’s ’60’s. The paper provides theoretical data supporting the translator’s choice of rendering certain slang expressions by paraphrase, explanation or even coinage of new words. We also look into how much has been compensated for and what was lost during the process of translation.

  3. Just how literal is the King James Version?

    OpenAIRE

    Jan (JH) Kroeze; Manie (CM) van den Heever; Bertus (AJ) van Rooy

    2010-01-01

    Many scholars have the perception that the King James Version (KJV) is a literal translation. However, it is not so easy to define the concept of "literal translation". The simplest definition may be to regard it as word-for-word translation. However, when one compares the KJV carefully with the original Hebrew Bible, there are numerous instances where lexical items are changed to adapt the idiom to that of the target language. In this article, a measuring instrument will be proposed and u...

  4. Thomas James Walker (1835-1916): Surgeon and general practitioner.

    Science.gov (United States)

    Thomas, Martyn

    2018-02-01

    Thomas James Walker was a surgeon and general practitioner who worked in the city of Peterborough at a time when there were changes and innovations in the practice of medicine. After training in medicine and surgery at Edinburgh University, he qualified in London in 1857. He was a pioneer of laryngoscopy. He played an important role in introducing antiseptic surgery to the Peterborough Infirmary and was instrumental in the development of the operating theatre which opened in 1894. He was a philanthropist and collector of Roman and Saxon artefacts. In 1915, he was recognized as an outstanding member of the Peterborough community when he was offered the Freedom of the City.

  5. Neocentric X-chromosome in a girl with Turner-like syndrome

    Directory of Open Access Journals (Sweden)

    Hemmat Morteza

    2012-06-01

    Full Text Available Abstract Background Neocentromeres are rare human chromosomal aberrations in which a new centromere has formed in a previously non-centromeric location. We report the finding of a structurally abnormal X chromosome with a neocentromere in a 15-year-old girl with clinical features suggestive of Turner syndrome, including short stature and primary amenorrhea. Result G-banded chromosome analysis revealed a mosaic female karyotype involving two abnormal cell lines. One cell line (84% of analyzed metaphases had a structurally abnormal X chromosome (duplication of the long arm and deletion of the short arm and a normal X chromosome. The other cell line (16% of cells exhibited monosomy X. C-banding studies were negative for the abnormal X chromosome. FISH analysis revealed lack of hybridization of the abnormal X chromosome with both the X centromere-specific probe and the “all human centromeres” probe, a pattern consistent with lack of the X chromosome endogenous centromere. A FISH study using an XIST gene probe revealed the presence of two XIST genes, one on each long arm of the iso(Xq, required for inactivation of the abnormal X chromosome. R-banding also demonstrated inactivation of the abnormal X chromosome. An assay for centromeric protein C (CENP-C was positive on both the normal and the abnormal X chromosomes. The position of CENP-C in the abnormal X chromosome defined a neocentromere, which explains its mitotic stability. The karyotype is thus designated as 46,X,neo(X(qter- > q12::q12- > q21.2- > neo- > q21.2- > qter[42]/45,X[8], which is consistent with stigmata of Turner syndrome. The mother of this patient has a normal karyotype; however, the father was not available for study. Conclusion To our knowledge, this is the first case of mosaic Turner syndrome involving an analphoid iso(Xq chromosome with a proven neocentromere among 90 previously described cases with a proven neocentromere.

  6. The hunters of humanity: creatures of horror in M. R. James's ghost stories

    OpenAIRE

    Oryshchuk, Nataliya

    2017-01-01

    In his ghost stories, M.R. James disclosed the most irrational and fearful aspects of archaic demonology still haunting the modern world. He turns humans into prey species, hunted and haunted by repulsive insect- and spider-like demons. This paper offers a closer look at the creatures of horror and the recurrent theme of the hunt in James's ghost stories, viewing them in the context of Victorian evolutionary theories as well as traditional medieval beliefs. James's protagonists, unimaginative...

  7. Turner syndrome

    Science.gov (United States)

    ... aorta and narrowing of the aortic valve Cataracts Obesity Other issues may include: Weight management Exercise Transition to adulthood Stress and depression over changes Outlook (Prognosis) Those ...

  8. Assessment of technology generating institutions in biotechnology ...

    African Journals Online (AJOL)

    STORAGESEVER

    2009-05-18

    May 18, 2009 ... biotechnology innovation system of South-Eastern. Nigeria. E. N. Ajani ... technology is the application of indigenous and / or scientific knowledge to ... developing societies, with the exception of China and. Argentina, (James ...

  9. Film-Induced Tourism in the Way of Saint James

    Directory of Open Access Journals (Sweden)

    Lucrezia Lopez

    2015-03-01

    Full Text Available This research paper proposes an analytical approach to the study of the phenomenon of the film-induced pilgrimage tourism, along one of the most historical and relevant European cultural route: the Way of St. James or Camino de Santiago.In the present study, and in order to point out the relation between film broadcast and film-induced tourism, we combine the review of the Jacobean cinema with the statistical analysis of the pilgrims arrived to Santiago de Compostela during the last decade. So, our main aim is to analyse the repercussion of the Jacobean Cinema in the attractiveness of the Way of St. James as tourism destination. We take into consideration the role of the film producers and we also ponder on the marketing policies of the Autonomous Community, which are aimed at promoting the pilgrim’s routes, the Cathedral and the city of Santiago de Compostela. The cinema has played a less important role until now, in comparison with the impact of travel guides and the Jacobean literature, but it is increasing its impact in the international tourism markets. Recently, the American film The Way can be considered to be the first promoter of the film-induced tourism, because the arrivals of pilgrims from USA have been increased after the broadcast of this film since 2010.

  10. CHARACTERIZATION OF SPONTANEOUS AND INDUCED PUBERTY IN GIRLS WITH TURNER SYNDROME.

    Science.gov (United States)

    Folsom, Lisal J; Slaven, James E; Nabhan, Zeina M; Eugster, Erica A

    2017-07-01

    To characterize puberty in girls with Turner syndrome (TS) and determine whether specific patient characteristics are associated with the timing of menarche. We also sought to compare spontaneous versus induced puberty in these patients. Medical records of girls followed in our Pediatric Endocrine clinic for TS from 2007 to 2015 were reviewed. Fifty-three girls were included, of whom 10 (19%) achieved menarche spontaneously and 43 (81%) received hormone replacement therapy (HRT). Of girls receiving HRT, a younger age at estrogen initiation correlated with a longer time to menarche (P = .02), and a mosaic karyotype was associated with a shorter time to menarche (P = .02), whereas no relationship was seen for body mass index, estrogen regimen, or maternal age at menarche. Nineteen girls (44%) receiving HRT had bleeding on estrogen alone at a wide dose range and were more likely to be on transdermal than oral preparations (P = .01). Girls with spontaneous puberty achieved menarche at a younger age (PTurner syndrome.

  11. Investigation of inflicted injury in a young girl reveals mild haemophilia A and Turner's syndrome.

    Science.gov (United States)

    Williams, V K; Suppiah, R; Coppin, B; Nicholls, C M; Simsek, A; McGregor, L K

    2012-02-01

    A 2-year-old girl presented to casualty with a right knee effusion after apparently minor trauma. Inflicted injury was suspected and full forensic coagulation studies were performed which revealed a mild deficiency of factor VIII. Screening of the exons and intron/exon boundaries of F8 gene indicated that the child appeared to be homozygous for the missense mutation c.5123G>A (p.Arg1708His) in exon 14 of the F8 gene. This mutation has been reported to be associated with mild haemophilia A. The possibility of hemizygosity had been masked by the test kit employed but referral to the genetics service and subsequent array CGH resulted in a diagnosis of Turner syndrome. © 2011 Blackwell Publishing Ltd.

  12. MR imaging of peripheral nervous system involvement: Parsonage-Turner syndrome.

    Science.gov (United States)

    Zara, Gabriella; Gasparotti, Roberto; Manara, Renzo

    2012-04-15

    A 55-year-old woman complained of right scapular pain, like burning, radiating down his right arm and numbness in the first three fingers of the hand. Neurologic examination showed a slight deficit of the right brachial triceps muscle. Neurophysiological assessment showed a mild involvement of the seventh right spinal root (C7). Conventional MR imaging of the cervical spine showed mild disc protrusion at level C5-C6 without spinal root compression. High resolution MR neurography with multiplanar reconstruction along the course of the right brachial plexus showed a mild increase in signal intensity and thickening of the C7 root, middle trunk and posterior cord, consistent with Parsonage-Turner Syndrome. STIR images showed increased signal intensity in the right infraspinatus muscle innervated by the suprascapular nerve. In our case, sensitivity and specificity of the new MR sequences are higher than the clinical and neurophysiological evaluations. Copyright © 2011 Elsevier B.V. All rights reserved.

  13. Clinical features of women with Turner syndrome experiencing transition period in Japan.

    Science.gov (United States)

    Nishigaki, Satsuki; Hamazaki, Takashi; Tsuruhara, Akitoshi; Yoshida, Toshiko; Imamura, Takuji; Inada, Hiroshi; Fujita, Keinosuke; Shintaku, Haruo

    2017-05-30

    Turner syndrome results from the entire or partial loss of the second X chromosome, and is associated with a number of medical problems. Affected women require long-term medical follow-up. This study investigated the status of medical follow-up focusing on the transition for young adult women with Turner syndrome (TS). The clinical profiles of 63 women with TS over the age of 16 were retrospectively examined. Thirty-three women are continuously followed by pediatric endocrinologists at our pediatric division. Twenty women were transferred to gynecologists as primary care physicians. Eight young adult women dropped out of the regular health check-up from our pediatric division even though 7 women were undergoing estrogen replacement therapy. We further reviewed the complications and management of the 33 women who were continuously followed at our pediatric division. A high incidence of obesity and liver dysfunction were observed in this age group (23.5±8.7). Nineteen out of 33 women consulted a cardiologist in the adult care division for cardiovascular complications. In the analysis of 20 women who were transferred to gynecologists, mainly two gynecologists accepted the transfer and have become accustomed to clinical care for TS. Seven women who were followed by the gynecologist in our facility were adequately managed for lifelong complications. Since there is no clear framework for transition in Japan, coordination with other specialists, especially gynecologists, is essential for the successful management of adult women with TS. Patient education and provision of information are required for establishing self-advocacy, which will prevent drop-out.

  14. Phrenic Nerve Palsy Secondary to Parsonage-Turner Syndrome: A Diagnosis Commonly Overlooked.

    Science.gov (United States)

    McEnery, Tom; Walsh, Ronan; Burke, Conor; McGowan, Aisling; Faul, John; Cormican, Liam

    2017-04-01

    Neuralgic Amyotrophy (NA) or Parsonage-Turner syndrome is an idiopathic neuropathy commonly affecting the brachial plexus. Associated phrenic nerve involvement, though recognised, is thought to be very rare. We present a case series of four patients (all male, mean age 53) presenting with dyspnoea preceded by severe self-limiting upper limb and shoulder pain, with an elevated hemi-diaphragm on clinical examination and chest X-ray. Neurological examination of the upper limb at the time of presentation was normal. Diaphragmatic fluoroscopy confirmed unilateral diaphragmatic paralysis. Pulmonary function testing demonstrated characteristic reduction in forced vital capacity between supine and sitting position (mean 50%, range 42-65% predicted, mean change 23%, range 22-46%), reduced maximal inspiratory pressures (mean 61%, range 43-86% predicted), reduced sniff nasal inspiratory pressure (mean 88.25, range 66-109 cm H 2 O) and preserved maximal expiratory pressure (mean 107%, range 83-130% predicted). Phrenic nerve conduction studies confirmed phrenic nerve palsy. All patients were managed conservatively. Follow-up ranged from 6 months to 3 years. Symptoms and lung function variables normalised in three patients and improved significantly in the fourth. The classic history of severe ipsilateral shoulder and upper limb neuromuscular pain should be elicited and thus NA considered in the differential for a unilateral diaphragmatic paralysis, even in the absence of neurological signs. Parsonage-Turner syndrome is likely to represent a significantly under-diagnosed aetiology of phrenic nerve palsy. Conservative management as opposed to surgical intervention is advocated as most patients demonstrate gradual resolution over time in this case series.

  15. Effect of discontinuation of long-term growth hormone treatment on carbohydrate metabolism and risk factors for cardiovascular disease in girls with Turner syndrome

    NARCIS (Netherlands)

    Y.K. van Pareren (Yvonne); S.M.P.F. de Muinck Keizer-Schrama (Sabine); Th. Stijnen (Theo); T.C.J. Sas (Theo); S.L.S. Drop (Stenvert)

    2002-01-01

    textabstractGH treatment increases insulin levels in girls with Turner syndrome (TS), who are already predisposed to develop diabetes mellitus and other risk factors for developing cardiovascular disease. Therefore, in the present study, we investigated carbohydrate metabolism and

  16. GH treatment to final height produces similar height gains in patients with SHOX deficiency and Turner syndrome: results of a multicenter trial.

    Science.gov (United States)

    Blum, Werner F; Ross, Judith L; Zimmermann, Alan G; Quigley, Charmian A; Child, Christopher J; Kalifa, Gabriel; Deal, Cheri; Drop, Stenvert L S; Rappold, Gudrun; Cutler, Gordon B

    2013-08-01

    Growth impairment in short stature homeobox-containing gene (SHOX) deficiency and Turner syndrome share a similar etiology. Because of the established effect of GH treatment on height in patients with Turner syndrome, we hypothesized that GH therapy would also stimulate growth in patients with SHOX deficiency. Our objectives were to evaluate long-term efficacy of GH treatment in short patients with SHOX deficiency and to compare the effect on final (adult) height (FH) in patients with SHOX deficiency and Turner syndrome. A prospective, multinational, open-label, randomized 3-arm study consisting of a 2-year control period and a subsequent extension period to FH. The treatment groups were 1) SHOX-D-C/GH (untreated during the control period, GH-treated during the extension), 2) SHOX-D-GH/GH, and 3) Turner-GH/GH (GH-treated during both study periods). Short-statured prepubertal patients with genetically confirmed SHOX deficiency (n = 49) or Turner syndrome (n = 24) who participated in the extension. Depending on the study arm, patients received a daily sc injection of 0.05 mg/kg recombinant human GH from start of the study or start of the extension until attainment of FH or study closure. Height SD score gain from start of GH treatment to FH was similar between the combined SHOX-deficient groups (n = 28, 1.34 ± 0.18 [least-squares mean ± SE]) and the Turner group (n = 19, 1.32 ± 0.22). In this FH population, 57% of the patients with SHOX deficiency and 32% of the patients with Turner syndrome achieved a FH greater than -2 SD score. GH treatment in short children with SHOX deficiency showed similar long-term efficacy as seen in girls with Turner syndrome.

  17. Clinical practice guidelines for the care of girls and women with Turner syndrome: proceedings from the 2016 Cincinnati International Turner Syndrome Meeting.

    Science.gov (United States)

    Gravholt, Claus H; Andersen, Niels H; Conway, Gerard S; Dekkers, Olaf M; Geffner, Mitchell E; Klein, Karen O; Lin, Angela E; Mauras, Nelly; Quigley, Charmian A; Rubin, Karen; Sandberg, David E; Sas, Theo C J; Silberbach, Michael; Söderström-Anttila, Viveca; Stochholm, Kirstine; van Alfen-van derVelden, Janielle A; Woelfle, Joachim; Backeljauw, Philippe F

    2017-09-01

    Turner syndrome affects 25-50 per 100,000 females and can involve multiple organs through all stages of life, necessitating multidisciplinary approach to care. Previous guidelines have highlighted this, but numerous important advances have been noted recently. These advances cover all specialty fields involved in the care of girls and women with TS. This paper is based on an international effort that started with exploratory meetings in 2014 in both Europe and the USA, and culminated with a Consensus Meeting held in Cincinnati, Ohio, USA in July 2016. Prior to this meeting, five groups each addressed important areas in TS care: 1) diagnostic and genetic issues, 2) growth and development during childhood and adolescence, 3) congenital and acquired cardiovascular disease, 4) transition and adult care, and 5) other comorbidities and neurocognitive issues. These groups produced proposals for the present guidelines. Additionally, four pertinent questions were submitted for formal GRADE (Grading of Recommendations, Assessment, Development and Evaluation) evaluation with a separate systematic review of the literature. These four questions related to the efficacy and most optimal treatment of short stature, infertility, hypertension, and hormonal replacement therapy. The guidelines project was initiated by the European Society for Endocrinology and the Pediatric Endocrine Society, in collaboration with The European Society for Pediatric Endocrinology, The Endocrine Society, European Society of Human Reproduction and Embryology, The American Heart Association, The Society for Endocrinology, and the European Society of Cardiology. The guideline has been formally endorsed by the European Society for Endocrinology, the Pediatric Endocrine Society, the European Society for Pediatric Endocrinology, the European Society of Human Reproduction and Embryology and the Endocrine Society. Advocacy groups appointed representatives who participated in pre-meeting discussions and in the

  18. The King James Bible and the Politics of Religious Education: Secular State and Sacred Scripture

    Science.gov (United States)

    Gearon, Liam

    2013-01-01

    This article provides an outline historical-educational analysis of the King James Bible from its 1611 publication through to its four-hundredth anniversary commemoration in 2011. With particular focus on England, the article traces the educational impact of the King James Bible and charts, in the country of its origin, its progressive decline in…

  19. Op zoek naar James Bond: media-pelgrimages, fans en masculiniteit

    NARCIS (Netherlands)

    Reijnders, S.

    2009-01-01

    Visiting the settings of popular films and tv series has become a growing niche in the tourist market. Little is known about what makes these visits so appealing. This question is explored on the basis of the case of James Bond. Twenty-three interviews were conducted with James Bond fans who had

  20. 78 FR 50458 - Entergy Nuclear Operations, Inc., James A. Fitzpatrick Nuclear Power Plant, Vermont Yankee...

    Science.gov (United States)

    2013-08-19

    ... Nuclear Operations, Inc., James A. Fitzpatrick Nuclear Power Plant, Vermont Yankee Nuclear Power Station... that the NRC take action with regard to James A. Fitzpatrick Nuclear Power Plant, Vermont Yankee.... Fitzpatrick Nuclear Power Plant (Fitzpatrick), Vermont Yankee Nuclear Power Station (Vermont Yankee), and...

  1. 75 FR 11575 - James A. Fitzpatrick Nuclear Power Plant Environmental Assessment and Finding of No Significant...

    Science.gov (United States)

    2010-03-11

    ... Power Plant Environmental Assessment and Finding of No Significant Impact The U.S. Nuclear Regulatory...), for the operation of the James A. FitzPatrick Nuclear Power Plant (JAFNPP) located in Oswego County... the Final Environmental Statement for the James A. FitzPatrick Nuclear Power Plant, Docket No. 50-333...

  2. James Joyce kui religiooni subjekt ja objekt / Kalle Käsper

    Index Scriptorium Estoniae

    Käsper, Kalle, 1952-

    2003-01-01

    Arvustus: Joyce, James. Dublinlased : [novellid] / inglise keelest tõlkinud Jaak Rähesoo. 2. tr. [Tallinn] : Varrak, 2003 ; Joyce, James. Kunstniku noorpõlveportree : [romaan] / inglise keelest tõlkinud [ja järelsõna:] Jaak Rähesoo. [Tallinn] : Varrak, 2003; vt ka vastukaja: Raudam, Toomas. Kontra Käsper // Sirp (2003) 20. juuni, lk. 5

  3. 75 FR 49994 - James Stephen Ferguson, D.M.D.; Revocation of Registration

    Science.gov (United States)

    2010-08-16

    ... DEPARTMENT OF JUSTICE Drug Enforcement Administration [Docket No. 09-64] James Stephen Ferguson, D.M.D.; Revocation of Registration On July 24, 2009, the Deputy Assistant Administrator, Office of Diversion Control, Drug Enforcement Administration (DEA), issued an Order to Show Cause to James Stephen...

  4. Bloomsday: James Joyce's Ulysses Celebrated as Theatrical Event

    Directory of Open Access Journals (Sweden)

    Willmar Sauter

    2009-12-01

    Full Text Available James Joyce had decided that 16 June 1904 should be the one day in the life of Leopold Bloom, about which he wrote his 800 page novel Ulysses. In his book, Joyce actually followed Mr Bloom that entire day, from his getting up and having the nowadays famous kidney breakfast, to the late evening, when he had to break into his own house on 7 Eccle Street to have a drink with Stephen Dedalus, the other main figure of the novel. The centenary of that very day took, accordingly, place in 2004. I have borrowed the identity of Mr Bloom to describe some street scenes from the centennial celebrations of Bloomsday in Dublin. After this intro-ductory presentation, part two of this article will attempt to analyse Bloomsday in terms of a Theatrical Event, embedded in an unusual and striking playing culture. In a third part, Mr Bloom will once more be allowed to make some concluding comments.

  5. Launch Window Trade Analysis for the James Webb Space Telescope

    Science.gov (United States)

    Yu, Wayne H.; Richon, Karen

    2014-01-01

    The James Webb Space Telescope (JWST) is a large-scale space telescope mission designed to study fundamental astrophysical questions ranging from the formation of the universe to the origin of planetary systems and the origins of life. JWSTs orbit design is a Libration Point Orbit (LPO) around the Sun-Earth/Moon (SEM) L2 point for a planned mission lifetime of 10.5 years. The launch readiness period for JWST is from Oct 1st, 2018 November 30th, 2018. This paper presents the first launch window analysis for the JWST observatory using finite-burn modeling; previous analysis assumed a single impulsive midcourse correction to achieve the mission orbit. The physical limitations of the JWST hardware stemming primarily from propulsion, communication and thermal requirements alongside updated mission design requirements result in significant launch window within the launch readiness period. Future plans are also discussed.

  6. Solar System Observations with the James Webb Space Telescope

    Science.gov (United States)

    Norwood, James; Hammel, Heidi; Milam, Stefanie; Stansberry, John; Lunine, Jonathan; Chanover, Nancy; Hines, Dean; Sonneborn, George; Tiscareno, Matthew; Brown, Michael; hide

    2016-01-01

    The James Webb Space Telescope (JWST) will enable a wealth of new scientific investigations in the near- and mid-infrared, with sensitivity and spatial/spectral resolution greatly surpassing its predecessors. In this paper, we focus upon Solar System science facilitated by JWST, discussing the most current information available concerning JWST instrument properties and observing techniques relevant to planetary science. We also present numerous example observing scenarios for a wide variety of Solar System targets to illustrate the potential of JWST science to the Solar System community. This paper updates and supersedes the Solar System white paper published by the JWST Project in 2010. It is based both on that paper and on a workshop held at the annual meeting of the Division for Planetary Sciences in Reno, NV, in 2012.

  7. The scientific papers of James Clerk Maxwell, vol.I

    CERN Document Server

    Maxwell, James Clerk

    2014-01-01

    One of the greatest theoretical physicists of the 19th century, James Clerk Maxwell is best known for his studies of the electromagnetic field. The 101 scientific papers of this two-volume set, arranged chronologically, testify to Maxwell's profound scientific legacy and include the preliminary explorations that culminated in his most famous work, A Treatise on Electricity and Magnetism. One of the nineteenth century's most significant papers, "A Dynamical Theory of the Electromagnetic Field," appears here, along with similarly influential expositions of Maxwell's dynamical theory of gases. The author's extensive range of interests is well represented, from his discussions of color blindness and the composition of Saturn's rings to his essays on geometrical optics, ether, and protecting buildings from lightning. His less technical writings are featured as well, including items written for the Encyclopedia Britannica and Nature magazine, book reviews, and popular lectures. Striking in their originality, these ...

  8. Astronaut James S. Voss Performs Tasks in the Destiny Laboratory

    Science.gov (United States)

    2001-01-01

    Astronaut James S. Voss, Expedition Two flight engineer, works with a series of cables on the EXPRESS Rack in the United State's Destiny laboratory on the International Space Station (ISS). The EXPRESS Rack is a standardized payload rack system that transports, stores, and supports experiments aboard the ISS. EXPRESS stands for EXpedite the PRocessing of Experiments to the Space Station, reflecting the fact that this system was developed specifically to maximize the Station's research capabilities. The EXPRESS Rack system supports science payloads in several disciplines, including biology, chemistry, physics, ecology, and medicine. With the EXPRESS Rack, getting experiments to space has never been easier or more affordable. With its standardized hardware interfaces and streamlined approach, the EXPRESS Rack enables quick, simple integration of multiple payloads aboard the ISS. The system is comprised of elements that remain on the ISS, as well as elements that travel back and forth between the ISS and Earth via the Space Shuttle.

  9. Swyer-James-Macleod's syndrome. A case report

    International Nuclear Information System (INIS)

    Pacheco C, Dario; Ojeda Leon, Paulina; Varo Acosta, Humberto; Salcedo Veles, Patricia; Salazar Juan Carlos

    1998-01-01

    This is a case report about a 67 years-old female patient with respiratory syndrome of 8 years with cough and dyspnoea. End-inspiration crackles in the pulmonary auscultation were found in left hemi thorax. Chest x-ray in expiration and inspiration showed hyperluscency and air trapping in the same hemi-thorax. Chest high-resolution CT revealed a low sized, oligohemic left lung with cylindrical bronchiectasis. Perfusion scintigraphy 99Tc labeled showed markedly left lung hypo-perfusion. Mild obstructive process was found in pulmonary function test. Lung biopsy of lingula reported bronchiolitis obliterans. Considered all the results that were obtained from clinical, x-ray and histopathology, a diagnosis of Swyer-James-Macleods syndrome was made

  10. Assimilating American Indians in James Fenimore Cooper’s Novels?

    Directory of Open Access Journals (Sweden)

    Peprník Michal

    2016-07-01

    Full Text Available The article employs critical concepts from sociology and anthropology to examine the stereotype of the Vanishing Indian and disclose its contradictory character. The article argues that in James Fenimore Cooper’s late novels from the 1840s a type of American Indian appears who can be regarded as a Vanishing Indian in many respects as he displays some slight degree of assimilation but at the same time he can be found to reveal a surprising amount of resistance to the process of vanishing and marginalization. His peculiar mode of survival and his mode of living demonstrate a certain degree of acculturation, which comes close to Gerald Vizenor’s survivance and for which I propose a term critical integration. I base my study on Susquesus (alias Trackless, Cooper’s less well-known character from The Littlepage Manuscripts, a three-book family saga.

  11. The case of James A. Garfield: a historical perspective.

    Science.gov (United States)

    Weiner, Bradley K

    2003-05-15

    In 1881, President James A. Garfield was shot in the back and died 79 days later. During this time, many controversies arose that had repercussions for years to come. Who was to manage the President's care? A prominent local physician took on the case, but after Garfield's death, he was highly criticized for inappropriate care and for excluding more highly qualified surgeons. Where was the bullet? Multiple opinions were given including that of Alexander Graham Bell. The correct suggestion turned out to be that of a young, unknown assistant demonstrator of anatomy. What was the proper treatment? Local wound care, removal of the bullet, and laparotomy all were considered. Many have felt that the choice of treatment may have proved to be worse than the injury itself. What did the autopsy show? Even this was controversial, with different observers claiming different results. This historical perspective reviews the case as well the controversies that surrounded it.

  12. THE QUEST FOR KNOWLEDGE IN "THE KING JAMES BIBLE"

    Directory of Open Access Journals (Sweden)

    Ewa Piotrowska-Oberda

    2014-10-01

    Full Text Available The aim of this article is the quest for knowledge in "The King James Bible" (1611 in terms of quantitative and qualitative research methodology with the application of the statistical analysis tool Antconc. The quest for knowledge with the use of corpus research aims at discussing the Biblical concept of knowledge through the origin, the object of knowledge, its implications and its constant development. Knowledge is often seen as of divine nature, reflected in the soul of man. It is based not only on logical, but also on the spiritual and ethical reasoning. The object of knowledge is light, reflecting the divine nature of knowledge which exceeds the intellect to reach a deeper spiritual human reasoning. In "The King James Bible" (1611 the authors of New Testament consider human knowledge to be imperfect and partial. They emphasize the need for a spiritual man aiming at reaching a complete knowledge. This spiritual development is based on the relationship between knowledge and faith, as well as knowledge and love. For the authors of the books of the New Testament there is no dichotomy between both knowledge and faith and knowledge and love, because faith and love depend on knowledge that originates in the word of God and leads to spiritual development. From this perspective, religious knowledge, love and mercy as well as faith developed through the knowledge of the biblical text leads to the knowledge of God, the enlightening source of ultimate knowledge. Thus, in the spiritual development of man not only the knowledge and faith but also emotional intelligence, which expresses itself through love and charity as the safer guide in all controversial issues, are important.

  13. [Dr James Lovelock and story about GAIA hypothesis].

    Science.gov (United States)

    Gajić, Vladimir

    2011-01-01

    Gaia is the Anglo-Saxon term for the Hellenic term Gea or Ge, which means Earth. The GAIA hypothesis was launched almost 40 years ago by the famous chemist James Lovelock, who was engaged by the National Aeronautics and Space Administration (NASA) to create a sensitive instrument for searching forms of extraterrestrial life on other planets. Then he published the book The ages of GAIA, which perturbed the world's scientific public of those days. Lovelock struck upon this idea in the late sixties of the past century, during the space race with Russians, when he was hired hy the National Aeronautics and Space Administration to conduct a series of experiments to find and explore life forms on the planet Mars. Experiments executed by the American module Viking failed to trace any life form, as Lovelock had predicted. He called it a dead equilibrium. Then he turned to Earth, whose perspective is totally different from its first neighbors. Venus and Mars, and is far from a dead equilibrium. DAISYWORLD: In this hypothesis. Lovelock represents Earth as one living, giant super organism, composed of all living creatures and its material environnent. In that super organisnm, the level of oxygen, weather conditions, ocean salinity and so on are under constant influence of physical, chemical and biological processes, which provide the existence for such life forms on Earth. Dr James Lovelock represents a pioneer of climatology, and his hypothesis gives a unique insight into the correlation of dynamic processes on our planet, no matter whether they are of physical or biological nature.

  14. Physiology as the antechamber to metaphysics: the young William James's hope for a philosophical psychology.

    Science.gov (United States)

    Croce, P J

    1999-11-01

    In the 5 years before 1878, when his career in psychology was becoming established, William James wrote a series of notes and reviews assessing the work of many of the pioneers in the new field. Adopting a public and confident voice, even while he was privately still uncertain and searching, James criticized the dogmatism of positivist and idealist claims to the study of the human brain and mind. In his short writings of 1873-1877, James started to formulate his own middle path. His first steps on that path show that he did not reject either scientific or philosophic inquiry; instead, he viewed scientific knowledge as a way to understand philosophical questions more deeply. Saving his sharpest critiques for positivism, James endorsed scientific investigation without materialist assmptions. While his career in psychology was still only a hope, James treated science as a means toward humanist insight.

  15. Barriers in communication and available resources to facilitate conversation about infertility with girls diagnosed with Turner syndrome.

    Science.gov (United States)

    King, Jessica E; Plamondon, Jenna; Counts, Debra; Laney, Dawn; Dixon, Shannan DeLany

    2016-02-01

    Delayed discussion about infertility with individuals affected by Turner syndrome (TS) has been found to result in psychological and social harm. The aim of this study was to identify barriers experienced when discussing infertility and determine resource types that may facilitate this conversation. An electronic survey, given to caregivers of girls with TS diagnosed at barriers in having the conversation. Although most individuals did not use resources to facilitate the conversation, they did express interest in additional resources.

  16. RESULTS OF LONG-TERM THERAPY WITH GROWTH-HORMONE IN 2 DOSE REGIMENS IN TURNER SYNDROME

    NARCIS (Netherlands)

    NIENHUIS, HE; RONGENWESTERLAKEN, C; WIT, JM; OTTEN, BJ; KEIZERSCHRAMA, SMPFD; DRAYER, NM; DELEMARREVANDEWAAL, HA; VULSMA, T; OOSTDIJK, W; WAELKENS, JJJ

    1993-01-01

    Girls with Turner syndrome were divided according to age (group A 6-12 years, and group B 12-19 years) and human growth hormone (GH) dose regimen (A1 and B1, three injections/week; A2 and B2, six injections/week). All groups responded to GH, 24 IU/M2/week, with an increase in height velocity, though

  17. Using New Media to Spread the Word About the James Webb Space Telescope

    Science.gov (United States)

    Masetti, Maggie; Krishnamurthi, A.

    2008-05-01

    The James Webb Space Telescope is a 6.5 m infrared telescope that will be launched in 2013. This modern telescope will look very different from the simple telescope Galileo used to look up at the skies 400 years ago. Modern technology, coupled with scientific curiosity, is enabling science to help us understand a Universe Galileo had not dreamed of in his time. The International Year of Astronomy presents an excellent opportunity to take the public along on the journey of the development of the Webb Telescope and its technological innovations. In keeping with the cutting-edge nature of the Webb, its education and public outreach (EPO) team is using a variety of new media to engage the public. We will discuss several of our EPO projects including our website, exhibits and displays in Second Life (an internet-based virtual world), and involvement in podcasts. Webb's EPO team is looking to expand past a passive web presence to engage the new and growing internet-savvy audiences. We are making our website more interactive through a variety of means, including a Flash game that allows the user to compare the Webb to a common reflecting telescope. This will enable the user to learn about the changes in telescopes that have come about since Galileo's time. We are also taking advantage of other new media opportunities as they present themselves - we participate in podcasts and have an engaging presence for the Webb Telescope on NASA's "islands” in Second Life.

  18. 75 FR 59237 - TRICARE Co-Pay Waiver at Captain James A. Lovell Federal Health Care Center Demonstration Project

    Science.gov (United States)

    2010-09-27

    ... DEPARTMENT OF DEFENSE Office of the Secretary TRICARE Co-Pay Waiver at Captain James A. Lovell.... ACTION: Notice of TRICARE Co-Pay waiver at Captain James A. Lovell Federal Health Care Center... ``TRICARE Co-Pay Waiver at Captain James A. Lovell Federal Health Care (FHCC) Demonstration Project.'' Under...

  19. Facial markers in second- and third-trimester fetuses with trisomy 18 or 13, triploidy or Turner syndrome.

    Science.gov (United States)

    Kagan, K O; Sonek, J; Berg, X; Berg, C; Mallmann, M; Abele, H; Hoopmann, M; Geipel, A

    2015-07-01

    To examine the effectiveness of nasal bone (NB) evaluation (including NB length (NBL)), prenasal thickness (PT) measurement, the PT:NBL ratio and the prefrontal space ratio (PFSR) in the identification of fetuses with trisomy 18 or 13, triploidy or Turner syndrome. This was a retrospective study using stored midsagittal two-dimensional images of the facial profile of fetuses with trisomy 18 or 13, triploidy or Turner syndrome in the second and third trimesters. For images of acceptable quality, measurements were obtained of NBL (where NB was present), PT, the PT:NBL ratio and PFSR, and these measurements were compared with previously published normal ranges. The search of databases identified 189 fetuses that met the study criteria: 132 (69.8%) with trisomy 18, 40 (21.2%) with trisomy 13, 10 (5.3%) with triploidy and seven (3.7%) with Turner syndrome. The NB was either absent or its measurement was below the 5(th) centile in 67 (50.8%), 20 (50.0%), five (50.0%) and two (28.6%) of the fetuses with trisomy 18, trisomy 13, triploidy and Turner syndrome, respectively. The PT measurement was above the 95(th) centile in 24 (18.2%), six (15.0%), one (10.0%) and one (14.3%) of the affected fetuses, respectively. The PFSR was abnormal in 72 (54.5%), 29 (72.5%), seven (70%) and four (57.1%) of the cases and the PT:NBL ratio was above the 95(th) centile or the nasal bone was absent in 72 (54.5%), 20 (50.0%), six (60.0%) and four (57.1%) cases, respectively. Although each of the facial markers considered provides some useful information in screening for trisomy 18, trisomy 13, triploidy and Turner syndrome, the performance of none of the markers appears to be as good as that in screening for trisomy 21. Copyright © 2014 ISUOG. Published by John Wiley & Sons Ltd.

  20. Estudio citogenético de 38 pacientes con síndrome de turner

    Directory of Open Access Journals (Sweden)

    Alejandro Giraldo

    1983-12-01

    Full Text Available De 38 pacientes con síndrome de Turner, 20 presentaron el cariotipo clásico 45,X0 y una el mosaico 45,X0/46,XX. Las otras 17 pacientes mostraron diferentes anomalías estructurales: diez tenían una o dos líneas con isocromosomas de brazos largos, ocho de ellas con mosaicismo 45,X0; una paciente presentó 46,X, deI (Xp o 46,X,tel (Xq por tratarse de una falta total de brazos cortos; tres mostraron diferentes porcentajes de líneas monosómicas y anillos X: 45,X0/46,X.dXI; dos pacientes tenían anomalías estructurales d el cromosoma Y: 45,X/46, XY nf y 45.X0/46.X.idic (Yq y una paciente mostró 45,X0/46,X.f (X. Estas pacientes fueron remitidas para evaluación clínica y citogenetica al Grupo de Gen6tica del Instituto Nacional de Salud de Colombia, de 1977 a 1983. Se discuten algunas observaciones sobre el posible origen de las anomalías cromosómicas, la edad de los padres, las edades y motivos de consulta de las pacientes y los hallazgos clínicos

  1. A case of 45,X/47,XXX mosaic Turner syndrome with limb length discrepancy.

    Science.gov (United States)

    Hishimura-Yonemaru, Nozomi; Okuhara, Koji; Takahashi, Nobuhiro; Tonoki, Hidefumi; Iizuka, Susumu; Tajima, Toshihiro

    2017-01-01

    Patients with Turner syndrome (TS) frequently show short stature and skeletal deformities, such as kyphosis and scoliosis. However, to the best of our knowledge, limb length discrepancy (LLD) has not yet been reported in patients with TS. The case of a 12-yr-old girl with 45,X/47,XXX mosaic TS showing LLD is herein presented. She was on GH therapy for short stature and was noted to have scoliosis in the standing position at a regular examination; however, the scoliosis became less evident in the supine position, which is indicative of LLD. The length of the left leg was 5.0 cm shorter than that of the right leg when measured. She was referred to orthopedics and underwent right distal femoral and right proximal tibial staple epiphysiodesis to shorten the abnormally long limb at 10 yr 6 mo of age. One year after the operation, the LLD decreased from 5.0 to 1.5 cm. During this period, GH was continued. LLD is a rare complication in TS, but when patients with TS show scoliosis in the standing position, re-evaluation for scoliosis in the supine position should be performed and the lengths of both legs should be measured.

  2. Alexithymia, emotion perception, and social assertiveness in adult women with Noonan and Turner syndromes.

    Science.gov (United States)

    Roelofs, Renée L; Wingbermühle, Ellen; Freriks, Kim; Verhaak, Chris M; Kessels, Roy P C; Egger, Jos I M

    2015-04-01

    Noonan syndrome (NS) and Turner syndrome (TS) are associated with cognitive problems and difficulties in affective information processing. While both phenotypes include short stature, facial dysmorphisms, and a webbed neck, genetic etiology and neuropsychological phenotype differ significantly. The present study examines putative differences in affective information processing and social assertiveness between adult women with NS and TS. Twenty-six women with NS, 40 women with TS, and 40 female controls were matched on age and intelligence, and subsequently compared on (1) alexithymia, measured by the Bermond-Vorst Alexithymia Questionnaire, (2) emotion perception, evaluated by the Emotion Recognition Task, and (3) social assertiveness and social discomfort, assessed by the Scale for Interpersonal Behavior. Women with TS showed higher levels of alexithymia than women with NS and controls (P-values assertiveness and the level of social discomfort. Women with NS and TS demonstrated different patterns of impairment in affective information processing, in terms of alexithymia and emotion perception. The present findings suggest neuropsychological phenotyping to be helpful for the diagnosis of specific cognitive-affective deficits in genetic syndromes, for the enhancement of genetic counseling, and for the development of personalized treatment plans. © 2015 Wiley Periodicals, Inc.

  3. [Determination of monosaccharides in Sargassum hemiphyllum (Turner) C. Ag. polysaccharides by ion chromatography].

    Science.gov (United States)

    Ou, Yunfu; Yin, Pinghe; Zhao, Ling

    2006-07-01

    Sargassum hemiphyllum polysaccharides (SHP) was extracted from dry Sargassum hemiphyllum (Turner) C. Ag. powder using 60 - 80 degrees C purified water and then hydrolyzed with 4.0 g/L trifluoroacetic acid at 80 degrees C. Without any derivatization reaction, the determination of monosaccharides in SHP was developed by anion-exchange chromatography with pulsed amperometric detection with an Au working electrode and an Ag/AgCl reference electrode. Monosaccharides were separated on a CarboPac PA10 anion-column (2 mm i. d. x 250 mm) by using isocratic elution consisting of 14 mmol/L sodium hydroxide at a flow rate of 0.20 mL/min. Six monosaccharides, xylose, galactose, arabinose, glucose, rhamnose and fructose, contained in SHP were separated and determined. Their contents in SHP were 2 200, 820, 98, 4 560, 358 and 740 mg/kg, respectively. The recoveries of the six monosaccharides were in the range 86.0% - 108.0%. The detection limits for these monosaccharides ranged from 5.6 to 89.6 microg/kg. The experimental results showed that SHP mainly consisted of xylose and glucose with smaller quantities of galactose, arabinose, rhamnose and fructose. This method is suitable for the determination of monosaccharides without any derivatization reaction at the level of microg/kg in dry algae with high sensitivity and good precision.

  4. Design and fabrication of a Czerny-Turner monochromator-cum-spectrograph

    International Nuclear Information System (INIS)

    Murty, M.V.R.K.; Shukla, R.P.; Bhattacharya, S.S.; Krishnamurthy, G.

    1987-01-01

    The design and fabrication of a Czerny-Turner monochromator cum spectrograph is described. It consists of a classically ruled grating having 1200 grooves/mm. The collimator is a concave spherical mirror having a radius of curvature 1.025 metre while the focusing element is a concave spherical mirror of radius of curvature 0.925 metre. The design of two unequal radii of curvature for collimating and focusing mirrors is chosen to eliminate the chromatic aberration at the wavelength of 5000A. The linear reciprocal dispersion on the focal surface is about 8A/mm. The resolution of the instrument at the coma corrected wavelength i.e. 5000A is 0.1A. The resolution at the other wavelengths is limited by the residual chromatic aberration which increases linearly with wavelength on either side of the 5000A. Therefore the resolution at the wavelength 2000A and 8000A is about 0.2A. 7 figures. (author)

  5. Dilation of the ascending aorta in Turner syndrome - a prospective cardiovascular magnetic resonance study

    Directory of Open Access Journals (Sweden)

    Pedersen Erik M

    2011-04-01

    Full Text Available Abstract Background The risk of aortic dissection is 100-fold increased in Turner syndrome (TS. Unfortunately, risk stratification is inadequate due to a lack of insight into the natural course of the syndrome-associated aortopathy. Therefore, this study aimed to prospectively assess aortic dimensions in TS. Methods Eighty adult TS patients were examined twice with a mean follow-up of 2.4 ± 0.4 years, and 67 healthy age and gender-matched controls were examined once. Aortic dimensions were measured at nine predefined positions using 3D, non-contrast and free-breathing cardiovascular magnetic resonance. Transthoracic echocardiography and 24-hour ambulatory blood pressure were also performed. Results At baseline, aortic diameters (body surface area indexed were larger at all positions in TS. Aortic dilation was more prevalent at all positions excluding the distal transverse aortic arch. Aortic diameter increased in the aortic sinus, at the sinotubular junction and in the mid-ascending aorta with growth rates of 0.1 - 0.4 mm/year. Aortic diameters at all other positions were unchanged. The bicuspid aortic valve conferred higher aortic sinus growth rates (p Conclusion A general aortopathy is present in TS with enlargement of the ascending aorta, which is accelerated in the presence of a bicuspid aortic valve.

  6. Loss of smell but not taste in adult women with Turner's syndrome and other congenital hypogonadisms.

    Science.gov (United States)

    Ros, Cristina; Alobid, Isam; Centellas, Silvia; Balasch, Juan; Mullol, Joaquim; Castelo-Branco, Camil

    2012-11-01

    To assess the impact of Turner's syndrome (TS) and other congenital hypogonadisms (OCH) on the sense of smell and taste. An analytical study of three independent cohorts was designed: patients affected by TS, OCH, and a control group of healthy women taking contraception. Gynaecological Endocrinology Unit and Smell Clinic in Rhinology Unit of Hospital Clinic of Barcelona. Thirty TS patients between 20 and 50 years of age receiving hormone replacement treatment (HT) were included as the exposed cohort; fourteen age-matched women with OCH taking HT were recruited; forty-three age-matched healthy controls receiving hormone contraception treatment were selected as the control group. This group was matched with an historical cohort of forty healthy women without contraception, used to validate BAST-24 in Hospital Clinic of Barcelona. Clinical history, presence of nasal symptoms, general physical examination, nasal endoscopy, and Barcelona Smell Test-24 (BAST-24) and gustometry were carried out on all patients. TS physical dysmorphology features, intensity of nasal symptoms and signs of nasal obstruction were collected. BAST-24 test included 24 odours to assess both sensory (detection, memory and forced choice) and sensitivity (intensity, irritability, freshness and pleasantness) odour characteristics, as well as 4 tastes to evaluate taste domains (detection and forced choice). Healthy women taking hormone contraception felt odours with more intensity (p=0.002) and less irritability (psmell memory (psmell but not of taste, compared to OCH and healthy controls taking contraception. Smell sensitivity was not affected. Copyright © 2012 Elsevier Ireland Ltd. All rights reserved.

  7. Flower colour variation and chromosome numbers in the north western distributional area of Turners sidoides (Turneraceae

    Directory of Open Access Journals (Sweden)

    Viviana G. Solís Neffa

    2004-01-01

    Full Text Available In the context of the evolutionary studies that are being carried out in Turners sidoides autopolyploid complex (x= 7, a systematic survey was made in the northwestern area (Bolivia of its distribution. Six populations with salmon flowers and thirty five with yellow ones of the subsp. pinnatifida were found. The distribution of these populations is associated with climatic and spatial variables. The populations with salmon flowers live in the dry forests (Chaco Boreal Biogeographical Province, while yellow flowered populations occur in the inter-andean valleys (Boliviano-Tucumana Biogeographical Province. All the population studied are diploid. The results obtained support the allopatric diversification model of populations with yellow and salmon flowers at the diploid level, probably favoured by the orographic barriers and climatic changes that have arisen during the Andes development and Quaternary glaciations. Moreover, our analysis evidences that the north western area of T. sidoides constitutes an important centre of variation of the subsp. pinnatifida and the major centre of diploids hitherto detected

  8. Stapp's quantum dualism: The James/Heisenberg model of consciousness

    International Nuclear Information System (INIS)

    Noyes, H.P.

    1994-01-01

    Henry Stapp attempts to resolve the Cartesian dilemma by introducing what the author would characterize as an ontological dualism between mind and matter. His model for mind comes from William James' description of conscious events and for matter from Werner Heisenberg's ontological model for quantum events (wave function collapse). His demonstration of the isomorphism between the two types of events is successful, but in the author's opinion fails to establish a monistic, scientific theory. The author traces Stapp's failure to his adamant rejection of arbitrariness, or 'randomness'. This makes it impossible for him (or for Bohr and Pauli before him) to understand the power of Darwin's explanation of biology, let along the triumphs of modern 'neo-Darwinism'. The author notes that the point at issue is a modern version of the unresolved opposition between Leucippus and Democritus on one side and Epicurus on the other. Stapp's views are contrasted with recent discussions of consciousness by two eminent biologists: Crick and Edelman. They locate the problem firmly in the context of natural selection on the surface of the earth. Their approaches provide a sound basis for further scientific work. The author briefly examines the connection between this scientific (rather than ontological) framework and the new fundamental theory based on bit-strings and the combinatorial hierarchy

  9. James Clerk Maxwell perspectives on his life and work

    CERN Document Server

    McCartney, Mark; Whitaker, Andrew

    2014-01-01

    James Clerk Maxwell (1831-1879) had a relatively brief, but remarkable life, lived in his beloved rural home of Glenlair, and variously in Edinburgh, Aberdeen, London and Cambridge. His scholarship also ranged wide - covering all the major aspects of Victorian natural philosophy. He was one of the most important mathematical physicists of all time, coming only after Newton and Einstein. In scientific terms his immortality is enshrined in electromagnetism and Maxwell's equations, but as this book shows, there was much more to Maxwell than electromagnetism, both in terms of his science and his wider life. Maxwell's life and contributions to science are so rich that they demand the expertise of a range of academics - physicists, mathematicians, and historians of science and literature - to do him justice. The various chapters will enable Maxwell to be seen from a range of perspectives. Chapters 1 to 4 deal with wider aspects of his life in time and place, at Aberdeen, King's College London and the Cavendish Labo...

  10. Impacts of James Bay project on Cree communities

    International Nuclear Information System (INIS)

    Senecal, P.; Egre, D.

    1993-01-01

    The LaGrande hydroelectric project in northwest Quebec, originally begun in 1972, was blocked by the Cree Indians and a negotiated settlement was reached in 1975 to continue it in exchange for compensation, land rights, and other matters. The James Bay and Northern Quebec Agreement contained provisions regulating the use of land and aimed at preserving the traditional Cree way of life. Other complementary agreements were signed in the 1980s. The impact of river-system modifications on wildlife harvesting and the effect of access roads on Cree communities are discussed. Flooding of hunting lands affected some traplines, and the low productivity of shore habitats and the high levels of mercury in some fish have greatly limited use of the LaGrande reservoirs for other purposes. Stream navigation at some communities was made more difficult because of changed river flows. The impact of the roads has been more positive, since the roads have facilitated trade and reduced local prices of many goods, and made wildlife harvesting easier and more evenly distributed. An income security program for hunters, fishers, and trappers has helped preserve a traditional lifestyle. A sharp increase in salary income, indicating consolidation of the employment market in the region, is the most significant economic impact of the LaGrande project agreement. 6 refs

  11. Growing Physics and Astronomy at James Madison University

    Science.gov (United States)

    Whisnant, C. Steven

    2010-02-01

    James Madison University is a public, primarily undergraduate institution with a student enrollment of over 18,000. We have a 10.8% minority population and a 60:40 female/male ratio. Drawing 29% of its students from other states, JMU serves a diverse student body. Since the mid '90's, the Department of Physics and Astronomy has grown to 110 majors. There are 15 tenured/tenure-track and 6 non-tenure-track full-time faculty in the department. Graduation rates have grown from five or fewer/year to typically 15-20/year. Eleven faculty are currently engaged in externally funded research with undergraduates. In the 2007-2008 academic year, 45 students were engaged in research. We produced a total of 89 publications and presentations that included 27 students as authors or co-authors. The growth of our department over the last decade is due to a variety of reforms. Foremost among the changes under the control of the department are the initiation of our multi-track BS and BA degree programs and a renewed focus on undergraduate research. These and other significant factors contributing to our success such as student recruiting, outreach, teaching and research integration/balance, promotion of a department culture, visibility on-and off-campus, and university support will be discussed. )

  12. James Lee Byars 1/2 an autobiography, sourcebook

    CERN Document Server

    Byars, James Lee; Eleey, Peter

    2014-01-01

    "I see my autobiography as an arbitrary segment of so many pages of time, of things that I have paid attention to at this point in my life," wrote James Lee Byars (1932-1997) in 1969. He was then 37, about half the average male lifespan at the time, and accordingly thought it appropriate to write his "1/2 autobiography." Byars' art ranged from highly refined objects to extremely minimal performance and events, and books, ephemera and correspondence that he distributed widely among friends and colleagues. Today, more than 15 years after his death, assessments of his art must negotiate Byars' performance of his charismatic self in his life and art. For his first major posthumous survey in the US, exhibition curators Magalí Arriola and Peter Eleey decided to produce a catalogue in two "halves," playing on his "1/2 autobiography": a catalogue of the exhibition itself, including new scholarship, and a sourcebook of primary documents. 1/2 an Autobiography, Sourcebook constitutes the latter volume--a reference guid...

  13. Optical transmission for the James Webb Space Telescope

    Science.gov (United States)

    Lightsey, Paul A.; Gallagher, Benjamin B.; Nickles, Neal; Copp, Tracy

    2012-09-01

    The fabrication and coating of the mirrors for the James Webb Space Telescope has been completed. The spectral reflectivity of the protected gold coated beryllium mirrors has been measured. The predicted end-of-life transmission through the telescope builds from these values. The additional phenomena that have been analyzed are contamination effects and effects of the environment for the JWST operation about the Earth-Sun L2 Lagrange libration point. The L2 environment analysis has been based on radiation testing of mirror samples and hypervelocity testing to assess the micrometeoroid impact effects. The mirror showed no change in reflectance over the VIS-SWIR wavelengths after exposure to 6-9 Grad (Si) that simulated 6 years orbiting the L2 Lagrange point. The effects of hypervelocity particle impacts on the mirrors from test data has been extrapolated to the to the anticipated flux characteristics for micrometeoroids at the L2 environment. The results show that the micrometeoroid effects are orders of magnitude below the particulate contamination effects. The final end-of-life transmission for the mirrors including all of these phenomena will meet the performance requirements for JWST.

  14. Unusual Turner syndrome mosaic with a triple x cell line (47,X/49,XXX) in a western lowland gorilla (Gorilla gorilla gorilla).

    Science.gov (United States)

    Bradford, Carol M; Tupa, Lynn; Wiese, Debbie; Hurley, Timothy J; Zimmerman, Ralph

    2013-12-01

    A 29-yr-old female western lowland gorilla (Gorilla gorilla gorilla) was evaluated for low fertility and a midterm abortion. Laboratory testing included karyotyping, which revealed an unusual mosaicism for Turner syndrome with Triple X (47,X/49,XXX). This appears to be the first report of Turner syndrome in a great ape. In humans, Turner syndrome occurs in approximately 1 in 3,000 females, with half of those monosomic for the X chromosome. A small proportion is mosaic for a triple X cell line (3-4%). In humans, Turner syndrome is associated with characteristic phenotype including short stature, obesity, a broad chest with widely spaced nipples, webbing of the neck, and anteverted ears. This individual gorilla is significantly shorter in stature than conspecifics and is obese despite normal caloric intake. Individuals with Turner syndrome should also be screened for common health issues, including congenital heart defects, obesity, kidney abnormalities, hypertension, hypothyroidism, and diabetes mellitus. Animals with decreased fertility, multiple miscarriages, fetal losses, unusual phenotypes, or a combination of these symptoms should be evaluated for genetic abnormalities.

  15. Cholesteatoma has a high prevalence in Turner syndrome, highlighting the need for earlier diagnosis and the potential benefits of otoscopy training for paediatricians.

    Science.gov (United States)

    Lim, D B N; Gault, E J; Kubba, H; Morrissey, M S C; Wynne, D M; Donaldson, M D C

    2014-07-01

    Girls with Turner syndrome are prone to cholesteatoma, a serious suppurative middle ear disease. We aimed to confirm its high prevalence in Turner syndrome, identify risk factors and suggest possible strategies for earlier detection. We reviewed 179 girls with Turner syndrome between 1989 and 2012 to identify cases of cholesteatoma. Seven girls (3.9%) had cholesteatoma (index girls) and each was compared with three age-matched girls without cholesteatoma (comparison girls). All the index girls had either the 45,X or 45,X/46X,i(Xq) karyotypes. Nine ears were initially affected, with three recurrences in two girls. Median age at first cholesteatoma presentation was 11.9 years (range: 7.5-15.2), with otorrhoea for three (range: one to seven) months in all 12 affected ears. Index girls had a significantly higher proportion of previous recurrent acute (p = 0.007) and chronic otitis media (p = 0.008), chronic perforation (p = 0.038) aural polyps (p Turner syndrome. Risk factors include 45,X and 46,XiXq karyotypes; a history of chronic otitis media, tympanic membrane retraction and persistent otorrhoea; and older age. Earlier recognition of ear disease is needed and otoscopy training for paediatricians caring for Turner syndrome patients may be beneficial. ©2014 Foundation Acta Paediatrica. Published by John Wiley & Sons Ltd.

  16. Eyes on the Universe: The Legacy of the Hubble Space Telescope and Looking to the Future with the James Webb Space Telescope

    Science.gov (United States)

    Straughn, Amber

    2011-01-01

    Over the past 20 years the Hubble Space Telescope has revolutionized our understanding of the Universe. Most recently, the complete refurbishment of Hubble in 2009 has given new life to the telescope and the new science instruments have already produced groundbreaking science results, revealing some of the most distant galaxy candidates ever discovered. Despite the remarkable advances in astrophysics that Hubble has provided, the new questions that have arisen demand a new space telescope with new technologies and capabilities. I will present the exciting new technology development and science goals of NASA's James Webb Space Telescope, which is currently being built and tested and will be launched this decade.

  17. Cryo Testing of tbe James Webb Space Telescope's Integrated Science Instrument Module

    Science.gov (United States)

    VanCampen, Julie

    2004-01-01

    The Integrated Science Instrument Module (ISIM) of the James Webb Space Telescope will be integrated and tested at the Environmental Test Facilities at Goddard Space Flight Center (GSFC). The cryogenic thermal vacuum testing of the ISIM will be the most difficult and problematic portion of the GSFC Integration and Test flow. The test is to validate the coupled interface of the science instruments and the ISIM structure and to sufficiently stress that interface while validating image quality of the science instruments. The instruments and the structure are not made from the same materials and have different CTE. Test objectives and verification rationale are currently being evaluated in Phase B of the project plan. The test program will encounter engineering challenges and limitations, which are derived by cost and technology many of which can be mitigated by facility upgrades, creative GSE, and thorough forethought. The cryogenic testing of the ISIM will involve a number of risks such as the implementation of unique metrology techniques, mechanical, electrical and optical simulators housed within the cryogenic vacuum environment. These potential risks are investigated and possible solutions are proposed.

  18. The James Webb STEM Innovation Project: Bringing JWST to the Education Community

    Science.gov (United States)

    Eisenhamer, Bonnie; Harris, J.; Ryer, H.; Taylor, J.; Bishop, M.

    2012-01-01

    Building awareness of a NASA mission prior to launch and connecting that mission to the education community can be challenging. In order to address this challenge, the Space Telescope Science Institute's Office of Public Outreach has developed the James Webb STEM innovation Project (SIP) - an interdisciplinary project that focuses on the engineering aspects and potential scientific discoveries of JWST, while incorporating elements of project-based learning. Students in participating schools will use skills from multiple subject areas to research an aspect of the JWST's design or potential science and create models, illustrated essays, or technology-based projects to demonstrate their learning. Student projects will be showcased during special events at select venues in the project states - thus allowing parents and community members to also be benefactors of the project. Currently, the SIP is being piloted in New York, California, and Maryland. In addition, we will be implementing the SIP in partnership with NASA Explorer Schools in the states of New Mexico, Michigan, Texas, Tennessee, and Iowa.

  19. Characteristics of Sediments in the James River Estuary, Virginia, 1968 (NODC Accession 7001081)

    Data.gov (United States)

    National Oceanic and Atmospheric Administration, Department of Commerce — This report presents data on the physical and chemical characteristics of bottom sediments in the James River estuary, Virgina. The data were generated as part of a...

  20. "Attacking the Citadel": James Moncreiff's Proposals to Reform Scottish Education, 1851-69.

    Science.gov (United States)

    Bain, Wilson H.

    1978-01-01

    A review of the parliamentary actions of Lord Advocate James Moncreiff to create a fully national Scottish educational system against the opposition by church groups reluctant to lose control over parish schools and schoolmasters. (SJL)

  1. Integrated Modeling for the James Webb Space Telescope (JWST) Project: Structural Analysis Activities

    Science.gov (United States)

    Johnston, John; Mosier, Mark; Howard, Joe; Hyde, Tupper; Parrish, Keith; Ha, Kong; Liu, Frank; McGinnis, Mark

    2004-01-01

    This paper presents viewgraphs about structural analysis activities and integrated modeling for the James Webb Space Telescope (JWST). The topics include: 1) JWST Overview; 2) Observatory Structural Models; 3) Integrated Performance Analysis; and 4) Future Work and Challenges.

  2. James Wertsi ja SaxEsti ühiskontsert. "Valge gospel" asub taas tuurile

    Index Scriptorium Estoniae

    2007-01-01

    Ameerika laulja ja kitarristi James Wertsi ning saksofonikvarteti SaxEst kontserdituurist Eestis algusega 1. dets. Haljala rahvamajast. Kontserdituurist "Valge gospel" alates 11. dets. kuues Eestimaa kirikus (viimane kontsert 20. dets. Tallinna Linnahallis)

  3. Sir James Paget: Paget's disease of the nipple, Paget's disease of bone.

    Science.gov (United States)

    Ellis, Harold

    2013-04-01

    Sir James Paget was one of the 'great' Victorians. Eminent as a surgeon, pathologist and teacher, his nobility of character and application to his work made him a leader in his profession in that age of great men.

  4. James Hurman "Sisuturundus ei anna kiiret lühiajalist efekti" / intervjueerinud Hando Sinisalu, Heidi Tiik

    Index Scriptorium Estoniae

    Hurman, James

    2016-01-01

    Intervjuu Passwordi konverentsil ettekandega "Loovus ja äriedu: tõestus selle kohta, et loovad reklaamid suurendavad ärilist edukust" esineva James Hurmaniga edukatest kampaaniatest ja sisuturunduse efektiivsusest

  5. Aerial photographic water color variations from pollution in the James River

    Science.gov (United States)

    Bressette, W. E.

    1978-01-01

    A photographic flight was made over the James River on May 17, 1977. The data show that, in general, James River water has very high sunlight reflectance. In the Bailey Bay area this reflectance is drastically reduced. Also shown is a technique for normalizing off-axis variations in radiance film exposure from camera falloff and uneven sunlight conditions to the nadir value. After data normalization, a spectral analysis is performed that identifies Bailey Creek water in James River water. The spectral results when compared with laboratory spectrometer data indicate that reflectance from James River water is dominated by suspended matter, while the substance most likely responsible for reduced reflectance in Bailey Creek water is dissolved organic carbon.

  6. Data collection and evaluation of continuity detail for John James Audubon Bridge No. 61390613004101.

    Science.gov (United States)

    2014-10-01

    This report summarizes findings from monitoring data that was collected over a two-year period from Bridge No. : 61390613004101 in the John James Audubon Project, which was formerly designated as Bridge #2 prior to : construction completion. The brid...

  7. Presidential Green Chemistry Challenge: 2010 Academic Award - James C. Liao and Easel Biotechnologies, LLC

    Science.gov (United States)

    Presidential Green Chemistry Challenge 2010 award winner, Dr. James C. Liao, genetically engineered microorganisms to make higher alcohols (with 3 to 8 carbon atoms) from glucose or directly from carbon dioxide (CO2).

  8. Konstruksi Realitas Pengguna Ponsel Cerdas Berdasarkan Pesan Penempatan Merek dalam Film James Bond: Spectre

    OpenAIRE

    Hafiz, M. Faisal

    2016-01-01

    This study entitled "Construction of Reality of Smartphone User Based on Branding Placement Message in James Bond: Spectre Film". The research is going to examine the relations between the process of branding placement of Sony Xperia Z5 to the movie-viewer who use smartphone from a variety of backgrounds. Researcher focus on how smartphone users adapt to their social needs, how subjective meaning of Sony Xperia Z5 upon the branding placement message in James Bond: Spectre, a...

  9. Kunst, kunstiajalugu ja visuaalkultuur / James Elkins ; intervjueerinud Maarin Mürk

    Index Scriptorium Estoniae

    Elkins, James, 1955-

    2010-01-01

    Kultuuriteaduste ja kunstide doktorikool korraldas 20.-22. sept. 2010 Eesti Kunstiakadeemia kunstikultuuri teaduskonnas ameerika kunstiteadlase James Elkensi seminari "Kunst, kunstiajalugu ja visuaalkultuuri uuringud. Uurimise ja kirjastamise probleeme ja kontseptsioone tänapäeval". James Elkensiga kunstiteadusest, sellest, kuidas visuaalkultuuri uurimine paneb küsimärgi alla senise kunstiajaloo ning kuidas on võimalik kirjutada ka Euroopa traditsioonist väljapoole jäävat kunstiajalugu, siinsest kunstiajaloo uurimisest ja kirjutamisest

  10. Evaluation of Turner relaxed state as a model of long-lived ion-trapping structures in plasma focus and Z-pinches

    Science.gov (United States)

    Auluck, S. K. H.

    2011-03-01

    Relatively long-lived spheroidal structures coincident with the neutron emission phase have been observed in frozen deuterium fiber Z-pinch and some plasma focus devices. Existence of energetic ion-trapping mechanism in plasma focus has also been inferred from experimental data. It has been conjectured that these are related phenomena. This paper applies Turner's theory [L. Turner, IEEE Trans. Plasma Sci. 14, 849 (1986)] of relaxation of a Hall magnetofluid to construct a model of these structures and ion-trapping mechanism. Turner's solution modified for a finite-length plasma is used to obtain expressions for the magnetic field, velocity, and equilibrium pressure fields and is shown to represent an entity which is simultaneously a fluid vortex, a force-free magnetic field, a confined finite-pressure plasma, a charged object, and a trapped energetic ion beam. Characteristic features expected from diagnostic experiments are evaluated and shown to resemble experimental observations.

  11. Neurosurgical Work during the Napoleonic Wars: George James Guthrie's Experience.

    Science.gov (United States)

    Roux, Franck-Emmanuel

    2016-01-01

    Involved in what is still considered, along with the two world wars of the 20th century, as one of the major conflicts in Europe, George James Guthrie (1785-1856) was the most famous English army surgeon of the Napoleonic wars. After treating the injured throughout the Peninsular Campaign (1808-1814), in 1815 and then in 1842 he published two major books dealing with cranial and brain injuries, among other topics. In these books, we can find, for example, an early description of the plantar reflex further described by Joseph Babinsky, accurate descriptions of the clinical signs of intracranial hypertension, and details of the physiopathology of subdural and epidural haematomas. Skull fractures are also discussed intensively, along with the indications for trepanation, a much-debated issue at the turn of the 19th century. The dura was often the limit of the surgical field for Guthrie. Nevertheless, he tried to rationalize the use of trepanation and favoured its use in two main cases: in cases of depressed skull bones, jammed bone fragments or debris irritating the dura or the brain and in cases of life-threatening cerebral compression caused by supposed blood clots. In their works, Guthrie and his contemporaries did not address neurosurgery in the modern sense of the word, but rather 'cranial surgery' in most cases. Guthrie, who saw so many patients with brain injuries and amputations, failed to understand that cerebral functions could be localized to the cortex and neglected to describe the phantom limb phenomenon, as did most of his contemporaries. © 2016 S. Karger AG, Basel.

  12. Interview with James Bradner. Interviewed by Hannah Coaker.

    Science.gov (United States)

    Bradner, James E

    2013-08-01

    James E Bradner is an Assistant Professor in Medicine at Harvard Medical School (MA, USA) as well as a Staff Physician in the Division of Hematologic Malignancies at Dana-Farber Cancer Institute (MA, USA). The present research focus of the Bradner laboratory concerns the discovery and optimization of prototype drugs targeting cancer gene regulation. The clinical objective of the Bradner group is to deliver novel therapeutics for human clinical investigation in hematologic diseases. Bradner's awards and honors include the Damon Runyon-Rachleff Innovation Award, the Smith Family Award for Excellence in Biomedical Research, the Dunkin' Donuts Rising Star Award and the HMS Distinguished Excellence in Teaching Award. He is a member of the American Society of Clinical Investigation, the American Society of Hematology, the American Chemical Society and the American Association of Cancer Research. His recent research has been published in Nature, Cell, Nature Chemical Biology and the Journal of the American Chemical Society. He has authored more than 20 US Patent applications, licensed to five pharmaceutical companies, and is a scientific founder of Acetylon Pharmaceuticals, SHAPE Pharmaceuticals, Tensha Therapeutics and Syros Pharmaceuticals. Bradner received his AB from Harvard University, his MD from the University of Chicago (IL, USA) and a MMS from Harvard Medical School. He completed his postgraduate training in Internal Medicine at Brigham & Women's Hospital (MA, USA), followed by a fellowship in Medical Oncology and Hematology at Dana-Farber Cancer Institute. Following additional post-doctoral training in Chemistry at Harvard University and the Broad Institute (MA, USA) with Professor Stuart Schreiber, Bradner joined the research faculty of Dana-Farber in 2008. Interview conducted by Hannah Coaker, Assistant Commissioning Editor.

  13. Obituary: James Alfred Van Allen, 1914-2006

    Science.gov (United States)

    Ludwig, George H.; McIlwain, Carl Edwin

    2006-12-01

    James Alfred Van Allen, world-renowned space scientist, died 9 August 2006 at the age of ninety-one. He succumbed to heart failure after a ten-week period of declining health. Van Allen served for his entire sixty-seven-year professional career as an amazingly productive researcher, space science spokesman, inspired teacher, and valued colleague. The realization by him and his associates that charged particles are trapped by the Earth's magnetic field began a whole new field of research, magnetospheric physics. Following that initial discovery, he and his associates quickly extended their observations, first to the inner planets, and then to the rest of the planets and beyond. During his tenure at Iowa, he and his group flew instruments on more than sixty successful Earth satellites and planetary spacecraft, including the first missions to the planets Venus, Mars, Jupiter, Saturn, Uranus, and Neptune. Van Allen's lifetime publication list numbers more than 275, of which many are widely-cited, seminal papers. He was the sole author of more than 125 of those papers. Beyond the research laboratory, Van Allen worked energetically throughout his career in establishing space research as a new branch of human inquiry. He was among the most sought-after as a committee member and adviser, working at the highest levels of government, including the White House and Congress, and at all levels of the national and international research establishments. Many presentations in the non-scientific arena helped to bring the exciting discoveries and challenges of space research to the attention of the general public. James Van Allen (Van to his many friends and colleagues) was born on 7 September 1914 on a small farm near Mount Pleasant, Iowa, the second of four sons of Alfred Morris Van Allen and Alma Olney Van Allen. After high school in Mount Pleasant, he entered Iowa Wesleyan College, majoring in physics and graduating summa cum laude. While there, he was introduced to geophysics

  14. ANÁLISIS DE PERFILES DE PERSONALIDAD EN MUJERES ADULTAS CON DIAGNÓSTICO DE SÍNDROME DE TURNER

    Directory of Open Access Journals (Sweden)

    MARÍA SOLEDAD SARTORI

    2015-01-01

    Full Text Available El Síndrome de Turneres el trastorno cromo-sómico, no heredable, de mayor incidencia po-blacional en el sexo femenino, determinado por ladeleción parcial o total del cromosoma X. En eldesarrollo de las mujeres con este diagnósticointervienen factores genéticos, familiares, educa-cionales y sociales que resultan relevantes en laconsolidación de la personalidad. El objetivo del trabajo realizado fue caracterizar la personalidad de mujeres adultas con Síndrome de Turner resi- dentes en Latinoamérica. La muestra fue de tipo no probabilístico intencional y corresponde a 60 mujeres entre 18 y 55 años. Los datos se recaba- ron a través de una versión virtual del Inventario Clínico Multiaxial de Millon II. Se transformaron las puntuaciones directas en puntuaciones Tasa Base y se obtuvieron estadísticos descriptivos de frecuencias y medidas de tendencia central para caracterizar a las participantes de la muestra. Pos- teriormente se calculó la razón de momios para obtener el índice de la probabilidad que las mu- jeres con diagnóstico de Síndrome de Turner pre- sentaran trastornos de la personalidad . Los re- sultados obtenidos muestran que la probabilidad que presenta dicha población de padecer trastor- nos de personalidad, en comparación con una muestra clínica normativa, resulta superior para todos los trastornos, siendo las escalas autodes- tructiva, compulsiva y antisocial aquellas que presentan los porcentajes más altos. Los datos ob- tenidos dan cuenta de la vulnerabilidad que pre- senta la población estudiada de padecer trastornos de personalidad y son útiles para el desarrollo de terapias específicas que consideren dichas carac- terísticas en pos de una mejor calidad de vida.

  15. Spontaneous fertility and pregnancy outcomes amongst 480 women with Turner syndrome.

    Science.gov (United States)

    Bernard, Valérie; Donadille, Bruno; Zenaty, Delphine; Courtillot, Carine; Salenave, Sylvie; Brac de la Perrière, Aude; Albarel, Frédérique; Fèvre, Anne; Kerlan, Véronique; Brue, Thierry; Delemer, Brigitte; Borson-Chazot, Françoise; Carel, Jean-Claude; Chanson, Philippe; Léger, Juliane; Touraine, Philippe; Christin-Maitre, Sophie

    2016-04-01

    What are the prevalence and the outcomes of spontaneous pregnancies (SP) in a large cohort of French women with Turner syndrome (TS)? Amongst 480 women with TS, 27 women (5.6%) had a total of 52 SP, with 30 full-term deliveries for 18 women. Primary ovarian insufficiency is a classic feature of TS. So far, few studies have evaluated the rate of SP in these patients. The French Ministry of Health set up a National Reference Centre for Rare Growth Disorders (CRMERC), including TS. We studied a cohort of adult TS patients from seven endocrine units (Saint-Antoine, Pitié-Salpêtrière, Bicêtre, Lyon, Marseille, Brest, Reims Hospitals) belonging to this centre, between January 1999 and January 2014. A total of 480 adult patients with TS were included. The patients' clinical characteristics, karyotypes and reproductive histories had been collected, after informed consent, in a web database called CEMARA. Our reference population was issued from a database belonging to the French Health Ministry, collecting pregnancy outcomes in the French general population. In order to find predictive characteristics of SP, TS with spontaneous pregnancies were compared with non-pregnant TS patients from our cohort. There were 27 patients (5.6%) who had a total of 52 SP. The two predictive factors which correlated with occurrence of a SP were spontaneous menarche and mosaic karyotype. The median delay to conception was 6 months (range 0-84). Miscarriage occurred in 16 pregnancies, 30.8% versus 15% in the general French population (P Paris France All authors claim no competing interests. NA. © The Author 2016. Published by Oxford University Press on behalf of the European Society of Human Reproduction and Embryology. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

  16. Protein metabolism in Turner syndrome and the impact of hormone replacement therapy.

    Science.gov (United States)

    Gravholt, Claus Højbjerg; Riis, Anne Lene; Møller, Niels; Christiansen, Jens Sandahl

    2007-09-01

    Studies have documented an altered body composition in Turner syndrome (TS). Body fat is increased and muscle mass is decreased. Ovarian failure necessitates substitution with female hormone replacement therapy (HRT), and HRT induces favourable changes in body composition. It is unknown how HRT affects protein metabolism. To test whether alterations in body composition before and after HRT in TS are a result of altered protein metabolism. We performed a randomized crossover study with active treatment (HRT in TS and oral contraceptives in controls) or no treatment. We studied eight women (age 29.7 +/- 5.6 (mean +/- SD) years) with TS, verified by karyotype, and eight age-matched controls (age 27.3 +/- 4.9 years). All subjects underwent a 3-h study in the postabsorptive state. Protein dynamics of the whole body and of the forearm muscles were measured by an amino acid tracer dilution technique using [(15)N]phenylalanine and [(2)H(4)]tyrosine. Substrate metabolism was examined by indirect calorimetry. Energy expenditure was comparable among TS and controls, and did not change during active treatment. Whole-body phenylalanine and tyrosine fluxes were similar in the untreated situations, and did not change during active treatment. Amino acid degradation and protein synthesis were similar in all situations. Muscle protein breakdown was similar among groups, and was not affected by treatment. Muscle protein synthesis rate and forearm blood flow did not differ among groups or due to treatment. Protein metabolism in TS is comparable to controls, and is not affected by HRT.

  17. The relationship of periaortic fat thickness and cardiovascular risk factors in children with Turner syndrome.

    Science.gov (United States)

    Akyürek, Nesibe; Atabek, Mehmet Emre; Eklioglu, Beray Selver; Alp, Hayrullah

    2015-06-01

    Children with Turner syndrome (TS) have a broad range of later health problems, including an increased risk of cardiovascular morbidity and mortality. The aim of this study was to evaluate the relationship between periaortic fat thickness (PAFT) and metabolic and cardiovascular profiles in children with TS. Twenty-nine TS and 29 healthy children and adolescents were enrolled in the study. Anthropometric measurements, pubertal staging, and blood pressure measurements were performed. Fasting serum glucose, insulin, and lipid profile were measured. Periaortic fat thickness was measured using an echocardiography method, which has not previously been applied in children with TS. No difference was found between TS and control subject (CS) in age, weight, waist/hip ratio, HDL cholesterol and LDL cholesterol levels. However, in TS subjects, total cholesterol (p = 0.045) was greater than that in controls. It was determined that 13.7 % (N: 4) of TS subjects had dyslipidemia. Mean fasting glucose, fasting insulin, QUICK-I, HOMA, and FGIR index were similar in TS and in CS, whereas 17.2 % (N: 5) of TS subjects had insulin resistance (IR) and 13.7 % (N: 4) had impaired glucose tolerance. Six subjects (20.6 %) were diagnosed as hypertensive. Periaortic fat thickness was significantly higher in the TS group (p children with TS, PAFT was positively correlated with fasting insulin, body mass index, and diastolic blood pressure. Our results provide additional evidence for the presence of subclinical cardiovascular disease in TS. In addition to existing methods, we recommend the measurement of periaortic fat thickness in children with TS to reveal the presence of early atherosclerosis.

  18. Delay in estrogen commencement is associated with lower bone mineral density in Turner syndrome.

    Science.gov (United States)

    Nguyen, H H; Wong, P; Strauss, B J; Jones, G; Ebeling, P R; Milat, F; Vincent, A

    2017-10-01

    Turner syndrome (TS) is associated with hypogonadism, osteoporosis and fractures. We investigated the prevalence and risk factors for low bone density and fractures in a TS cohort. We included 76 TS patients (median age 28.5 years) attending a tertiary hospital between 1998 and 2015 who underwent dual-energy X-ray absorptiometry. Spine and femoral neck (FN) areal bone mineral density (aBMD) were compared with those of a control group. To adjust for smaller bone size, bone mineral apparent density (BMAD) was calculated. Primary amenorrhea was common (83%) in the TS cohort; the median age of pubertal induction was 15 years (range 11-30 years), and non-continuous estrogen therapy (ET) recorded in 40%. Almost one-third of TS patients reported fractures. TS patients had lower median spinal aBMD (1.026 g/cm 2 vs. 1.221 g/cm 2 ) and BMAD (0.156 g/cm 3 vs. 0.161 g/cm 3 ) than controls, and lower median FN aBMD (0.850 g/cm 2 vs. 1.026 g/cm 2 ) (all p < 0.01). More women with TS had spinal Z-score < -2.0 compared to controls (26.0% vs. 3.6%, p = 0.001). Spine and FN aBMD, BMAD and Z-scores were inversely associated with age commencing ET or years of estrogen deficiency. Delay in ET commencement was an independent risk factor for the lower bone density observed in women with TS. Early pubertal induction and ET compliance are important targets to optimize aBMD.

  19. Health status, quality of life and medical care in adult women with Turner syndrome

    Directory of Open Access Journals (Sweden)

    Diana-Alexandra Ertl

    2018-04-01

    Full Text Available Background: Previous studies have shown that only a minority of patients with Turner syndrome (TS have adequate medical care after transfer to adult care. Aim of this study: To assess the status of medical follow-up and quality of life (QoL in adult women diagnosed with TS and followed up until transfer. To compare the subjective and objective view of the medical care quality and initiate improvements based on patients’ experiences and current recommendations. Methods: 39 adult women with TS out of 64 patients contacted were seen for a clinical and laboratory check, cardiac ultrasound, standardized and structured questionnaires (SF-36v2 and Beck depression inventory. Results: 7/39 of the patients were not being followed medically at all. Only 2/39 consulted all the specialists recommended. Comorbidities were newly diagnosed in 27/39 patients; of these, 11 related to the cardiovascular system. Patients in our cohort scored as high as the mean reference population for SF-36v2 in both mental and physical compartments. Obese participants had lower scores in the physical function section, whereas higher education was related to higher physical QoL scores. Adult height slightly correlated positively with physical health. Conclusion: Medical follow-up was inadequate in our study cohort of adults with TS. Even though their medical follow-up was insufficient, these women felt adequately treated, leaving them vulnerable for premature illness. Initiatives in health autonomy and a structured transfer process as well as closer collaborations within specialities are urgently needed.

  20. Increased detection of co-morbidities with evaluation at a dedicated adult Turner syndrome clinic.

    Science.gov (United States)

    Vincent, A J; Nguyen, H H; Ranasinha, S; Vollenhoven, B

    2017-10-01

    Turner syndrome (TS), resulting from complete/partial X chromosomal monosomy, is associated with multiple co-morbidities and increased mortality. Although multidisciplinary management is recommended, TS women's health care is sub-optimal. This study evaluates a multidisciplinary adult TS service. Retrospective cohort study of 82 patients attending the quarterly TS clinic from December 2003 to December 2014. Evaluation included (1) demographics, (2) TS standardized co-morbidity screening, and (3) estrogen therapy use. Data analysis involved frequency statistics, T tests and polychoric correlation analysis. Median age at TS diagnosis was 14 years (range 0-65 years), with 12% of women aged >18 years. Median age at initial consultation was 31 years (range 16-65 years). Only 14% of patients were transition program referrals. XO karyotype occurred in 30%. Primary amenorrhea predominated; however, 37% of TS women were not taking estrogen therapy. The proportion of patients not previously screened (44-76%) and those with positive screening diagnoses (5-53%) varied according to co-morbidity. The mean (± standard deviation) number of co-morbidities identified increased following TS clinic screening (7.0 ± 2.6 post-screening vs. 4.4 ± 2.3 pre-screening; p < 0.0001). Polychoric correlation analysis identified particular co-morbidity groupings (including metabolism-related) and increased co-morbidities with primary amenorrhea. A multidisciplinary adult TS clinic improves health surveillance with increased identification of co-morbidities and initiation of estrogen therapy.

  1. Growth hormone therapy in a girl with Turner syndrome and diabetes type 1 - case report.

    Science.gov (United States)

    Obara-Moszynska, Monika; Banaszak, Magdalena; Niedziela, Marek

    2015-01-01

    The studies indicate the complex etiology of abnormal glucose metabolism in the Turner syndrome (TS). In the light of these carbohydrate disorders a therapy with recombinant growth hormone (rGH) in TS may be associated with complications, as growth hormone has a diabetogenic potential. Perinatal history is unknown since the patient was adopted at the age of 4 years. At 11 years old, due to typical phenotype, TS was diagnosed. The karyotype was 45,X[43]/46,X,i(X)(q10)[7]. At the same age, basing on laboratory results, insulin dependent diabetes was diagnosed and the conventional insulin therapy was initiated. During the hospitalization, at the age of 12 years, the patient was 123.5cm (-4.4SD). At the same age rGH tre-atment was initiated, with the dose 0.045 mg/kg/d. After 3 months of therapy the height velocity rose to 8.2 cm/ year. At the age of 13 years, substitution with 17β-estradiol was started. After 3 years and 4 months the growth hormone treatment was stopped because of poor height velocity. The final height of the patient was 140 cm (-4,OSD). Two years after the end of rGH treatment the height was 141.2 cm. After termination of rGH treatment the need for daily insulin dose decreased from 50-60U/d to 38-44U/d. The decision of rGH therapy in TS with diabetes is certainly difficult. While starting the growth hormone treatment the clinician must keep in mind the risk of metabolic complications, but also the awareness that gives the patient a chance to improve the final height. In terms of the proper psycho-emotional development the reduction of growth deficit is very important. © Polish Society for Pediatric Endocrinology and Diabetology.

  2. [Shereshevsky-Turner syndrome: Estrogen replacement therapy and cardiovascular risk factors].

    Science.gov (United States)

    Yevstigneeva, O A; Andreeva, E N; Grigoryan, O R; Volevodz, N N; Melnichenko, G A; Dedov, I I

    To investigate the impact of menopausal hormone therapy (MHT) on the expression of risk factors for cardiovascular events (CVEs) in patients with Shereshevsky-Turner syndrome (STS); to elaborate an algorithm for patient management using MHT. From 2010 to 2012, a total of 41 patients aged 14 to 35 years with STS were examined in the framework of a prospective observational study. 100 STS case histories in 2000 to 2009 were retrospectively analyzed. The indicators of the so-called cardiometabolic risk, such as body mass index (BMI), lipidogram readings, venous plasma glucose levels, and blood pressure, were estimated in relation to the type of MHT. In the prospective part of the investigation, an angioscan was used to estimate vessel characteristics (stiffness, wall tone, endothelial function (EF)), by using the examination data. 90% of the patients with STS were found to have risk factors for CVEs: atherogenic dyslipidemia (85%; 51% in the general female population of the same age), diastolic hypertension (36%; no more than 5% that is not typical for age-matched healthy general female population). In addition to increased arterial wall stiffness (AWS), obvious EF disorder is typical for STS patients. MHT was accompanied by a dose-dependent (estradiol, at least 2 mg) reduction in diastolic blood pressure by an average of 13% over 24 months, an increase in high density lipoprotein levels by more than 10% over 24 months and also contributedto a decrease in AWS and an improvement in EF. By favorably affecting the EF of vessels and reducing the severity of atherogenic dyslipidemia, MHT potentially enables a reduction in CV risk in patients with STS.

  3. Neoplasia in Turner syndrome. The importance of clinical and screening practices during follow-up.

    Science.gov (United States)

    Larizza, Daniela; Albanesi, Michela; De Silvestri, Annalisa; Accordino, Giulia; Brazzelli, Valeria; Maffè, Gabriella Carnevale; Calcaterra, Valeria

    2016-05-01

    Turmer syndrome (TS) patients show increased morbidity due to metabolic, autoimmune and cardiovascular disorders. A risk of neoplasia is also reported. Here, we review the prevalence of neoplasia in a cohort of Turner patients. We retrospectively evaluated 87 TS women. Follow-up included periodic ultrasound of the neck, abdominal and pelvic organs, dermatologic evaluation and fecal occult blood test. Karyotype was 45,X in 46 patients. During follow-up, 63 girls were treated with growth hormone, 65 with estro-progestin replacement therapy and 20 with L-thyroxine. Autoimmune diseases were present in 29 TS. A total of 17 neoplasms in 14 out of 87 patients were found. Six skin neoplasia, 3 central nervous system tumors, 3 gonadal neoplasia, 2 breast tumors, 1 hepatocarcinoma, 1 carcinoma of the pancreas and 1 follicular thyroid cancer were detected. Age at tumor diagnosis was higher in 45,X pts than in those with other karyotypes (p = 0.003). Adenomioma gallbladdder (AG) was detected in 15.3% of the patients, with a lower age in girls at diagnosis with an associated neoplasia in comparison with TS without tumors (p = 0.017). No correlation between genetic make up, treatment, associated autoimmune diseases and neoplastia was found. In our TS population an increased neoplasia prevalence was reported. A high prevalence of AG was also noted and it might be indicative of a predisposition to neoplasia. Further studies are needed to define the overall risk for neoplasia, and to determine the role of the loss of the X-chromosome and hormonal therapies. Copyright © 2016 Elsevier Masson SAS. All rights reserved.

  4. The contribution of professor G. I. Turner in pediatric orthopedics and clinical surgery (160th anniversary of birth

    Directory of Open Access Journals (Sweden)

    T. Sh Morgoshiya

    2018-01-01

    Full Text Available The article is devoted to the multifarious activities of Genrikh Ivanovich Turner (1858–1941. It is noted that originally G.I. Turner was interested in problems abstracted from orthopedics: acute purulent processes in the right iliac fossa, etc. In 1895, Turner was appointed Professor of  the Department of Desmurgy and Mechanics of  the Military Medical Academy. He revived the teaching of the subject and transmitted it into “broad practical soil”. Genrikh Ivanovich Turner became one of the founders of the Russian orthopedics, the organizer and the head (since 1900 of the first in Russia department and clinic of orthopedics. G.I. Turner gave a lot of power and energy to render assistance to sick children suffering from physical disabilities, restore the working capacity of children with disabilities. For many years he was in charge of the orphanage in St. Petersburg, which was transformed into the G.I. Turner Research Institute of Child Disability in 1932. This institution became an organizational and methodological center for combating child disability in  the Soviet Union. Genrikh Ivanovich was the first in Russia, who raised his voice in favor of  the disabled child, pointed out the need to provide systematic state assistance to disabled children with diseases of the musculoskeletal system.

  5. First-trimester screening for trisomies 18 and 13, triploidy and Turner syndrome by detailed early anomaly scan.

    Science.gov (United States)

    Wagner, P; Sonek, J; Hoopmann, M; Abele, H; Kagan, K O

    2016-10-01

    To examine the performance of first-trimester ultrasound screening for trisomies 18 and 13, triploidy and Turner syndrome based on fetal nuchal translucency thickness (NT), additional fetal ultrasound markers including anatomy of the nasal bone (NB), blood flow across the tricuspid valve (TV) and through the ductus venosus (DV) and a detailed fetal anomaly scan at 11-13 weeks' gestation. This was a retrospective case-matched study involving pregnant women at 11-13 weeks' gestation. The study population consisted of fetuses with trisomy 18, trisomy 13, triploidy or Turner syndrome. For each fetus with an abnormal karyotype, 50 randomly selected euploid fetuses were added to the study population. In all cases, the crown-rump length and NT were measured. In addition NB, TV flow and DV flow were examined. The summed risk for trisomies 21, 18 and 13 was computed based on: first, maternal age (MA); second, MA and fetal NT; third, MA, NT and one of the markers NB, TV flow or DV flow; fourth, MA, NT and all these markers combined; fifth, MA, NT and fetal anomalies; and, finally, MA, NT, all markers and fetal anomalies. The study population consisted of 4550 euploid and 91 aneuploid fetuses. Median NT was 1.8 mm in euploid fetuses and 4.8, 6.8, 1.8 and 10.0 mm in fetuses with trisomy 18, trisomy 13, triploidy and Turner syndrome, respectively. The NB, TV flow and DV flow were abnormal in 48 (1.1%), 34 (0.7%) and 99 (2.2%) euploid fetuses, respectively, and in 42 (46.2%), 31 (34.1%) and 62 (68.1%) aneuploid fetuses, respectively. At least one defect was found in 60 (1.3%) euploid and in 76 (83.5%) aneuploid fetuses. For a false-positive rate of 3%, the detection rate for screening based on MA and fetal NT was 75.8%. It increased to 84.6-86.8% when including one of the additional ultrasound markers and it was 90.1% when all three markers were included. When screening was based on MA, fetal NT and a detailed anomaly scan, the detection rate was 94.5% and increased to 95

  6. James Chadwick Nobel Prize for Physics 1935. Discovery of the neutron; James Chadwick Premio Nobel de Fisica 1935. Descubrimiento del neutron

    Energy Technology Data Exchange (ETDEWEB)

    NONE

    2004-07-01

    James Chadwick (1981-1974) was a key figure in the field of nuclear science. Through his studies, he researched the disintegration of atoms by bombarding alpha particles and proved the existence of neutrons. For this discovery, he was awarded the Nobel Prize for physics in 1935. (Author)

  7. 47,XXX/45,X/46,XX mosaicism in a patient with Turner phenotype and spontaneous puberal development.

    Science.gov (United States)

    Brambila-Tapia, Aniel Jessica Leticia; Rivera, Horacio; García-Castillo, Herbert; Domínguez-Quezada, Maria Guadalupe; Dávalos-Rodríguez, Ingrid Patricia

    2009-11-01

    To describe a patient with infertility and phenotypic combination of Turner and triple-X syndrome related to mos 47,XXX/45X/46,XX karyotype. Case report. División de Genética, Centro de Investigación Biomédica de Occidente and Hospital de Ginecología y Obstetricia, CMNO, Instituto Mexicano del Seguro Social. The 24-year-old patient presented a phenotypic combination of Turner syndrome and X polysomy. She showed wide and short neck, low posterior hairline, cubitus valgus, bilateral shortening of the fourth and fifth metacarpals, multiple nevi, and müllerian anomalies but had spontaneous pubarche, thelarche, and menarche. Laboratory evaluations, imaging studies, ovarian biopsy, G-banding karyotype, and in situ fluorescence hybridization. Clinical and laboratory findings. A karyotype: mos 47,XXX/45X/46,XX was found in the cytogenetic studies, a bicornuate uterus in the ultrasonographic scan, and a normal ovarian profile in the laboratory tests. The infertility in the present case can be related to either bicornuate uterus or subclinical abortions due to aneuploid ova. Cytogenetic assessment provides important information regarding infertile patients with uterine factors and short stature.

  8. Early treatment with GH alone in Turner syndrome: prepubertal catch-up growth and waning effect.

    Science.gov (United States)

    Wasniewska, Malgorzata; De Luca, Filippo; Bergamaschi, Rosalba; Guarneri, Maria Pia; Mazzanti, Laura; Matarazzo, Patrizia; Petri, Antonella; Crisafulli, Giuseppe; Salzano, Giuseppina; Lombardo, Fortunato

    2004-11-01

    In order to ascertain the advantages of early GH treatment in Turner syndrome (TS), we started a prospective study aimed at evaluating prepubertal height gain in a cohort of 29 girls who were treated with the same pro-kilo GH dose (1.0 IU/kg per week) since they were less than 6 years old and for at least 5 years before entering puberty. Following a minimum of 6 months of baseline observations, 29 girls with TS were enrolled for this prospective study provided that they (a) were less than 6 years old, (b) were below -1.0 standard deviation score (SDS) for height, (c) had a projected adult height (PAH) lower than the respective target height (TH) and (d) had a height velocity (HV) lower than -1.0 SDS. All the selected girls underwent a 5-year treatment with biosynthetic GH at a stable dose of 1.0 IU/kg per week and were periodically measured during the treatment period in order to evaluate height, HV and PAH. After a dramatic acceleration during the 1st year, HV was attenuated during the subsequent years, reaching its nadir at the 5th year. Height deficiency under therapy progressively decreased from entry onwards, shifting from -2.4+/-0.7 to -1.0+/-1.2 SDS. In the same period, mean PAH progressively increased, although after 5 years it remained lower than the average TH. (a) An effective growth-promoting strategy in TS should be based on early GH treatment, as suggested by our results. (b) This strategy could result in a prepubertal normalization of height, thus allowing the appropriate timing for the induction of puberty. (c) An initial GH dose of 1.0 IU/kg per week may be suitable during the first years of therapy, as shown by our data documenting an important waning effect of GH therapy only after the 4th year of treatment. (d) No acceleration of bone maturation was observed under this treatment regimen.

  9. Secular Trends on Birth Parameters, Growth, and Pubertal Timing in Girls with Turner Syndrome

    Directory of Open Access Journals (Sweden)

    Joachim Woelfle

    2018-02-01

    Full Text Available BackgroundWhether children with chromosomal disorders of growth and puberty are affected by secular trends (STs as observed in the general population remains unanswered, but this question has relevance for expectations of spontaneous development and treatment responses.ObjectivesThe aim of the study was to evaluate STs in birth parameters, growth, and pubertal development in girls with Turner syndrome (TS.Study designRetrospective analysis of KIGS data (Pfizer International Growth Database. We included all TS patients who entered KIGS between 1987 and 2012 and were born from 1975 to 2004, who were prepubertal and growth treatment naïve at first entry (total number: 7,219. Pretreatment height and ages at the start of treatment were compared across 5-year birth year groups, with subgroup analyses stratified by induced or spontaneous puberty start.ResultsWe observed significant STs across the birth year groups for birth weight [+0.18 SD score (SDS, p < 0.001], pretreatment height at mean age 8 years (+0.73 SDS, p < 0.001, height at the start of growth hormone (GH therapy (+0.38 SDS, p < 0.001 and start of puberty (+0.42 SDS, p < 0.001. Spontaneous puberty onset increased from 15 to 30% (p < 0.001. Mean age at the start of GH treatment decreased from 10.8 to 7.4 years (−3.4 years; p < 0.001, and substantial declines were seen in ages at onset of spontaneous and induced puberty (−2.0 years; p < 0.001 and menarche (−2.1 years; p < 0.001.ConclusionEnvironmental changes leading to increased height and earlier and also more common, spontaneous puberty are applicable in TS as in normal girls. In addition, greater awareness for TS may underlie trends to earlier start of GH therapy and induction of puberty at a more physiological age.

  10. Height outcome of the recombinant human growth hormone treatment in Turner syndrome: a meta-analysis

    Directory of Open Access Journals (Sweden)

    Ping Li

    2018-04-01

    Full Text Available Objective: This study sought to determine the effect of the recombinant human growth hormone (rhGH treatment of Turner syndrome (TS on height outcome. Methods: We searched in MEDLINE, EMBASE and Cochrane Central Register of Controlled Trials and Cochrane Database of Systematic Reviews. A literature search identified 640 records. After screening and full-text assessment, 11 records were included in the systematic review. Methodological quality was assessed using the Cochrane Risk of Bias tool. RevMan 5.3 software was used for meta-analysis. We also assessed the quality of evidence with the GRADE system. Results: Compared with controls, rhGH therapy led to increased final height (MD = 7.22 cm, 95% CI 5.27–9.18, P < 0.001, I2 = 4%; P = 0.18, height standard deviation (HtSDS (SMD = 1.22, 95% CI 0.88–1.56, P < 0.001, I2 = 49%; P = 0.14 and height velocity (HV (MD 2.68 cm/year; 95% CI 2.34, 3.02; P < 0.001, I2 = 0%; P = 0.72. There was a small increase in bone age (SMD 0.32 years; 95% CI 0.1, 0.54; P = 0.004, I2 = 73%; P = 0.02 after rhGH therapy for 12 months. What is more, the rhGH/oxandrolone combination therapy suggested greater final height (MD 2.46 cm; 95% CI 0.73, 4.18; P = 0.005, I2 = 32%; P = 0.22, increase and faster HV (SMD 1.67 cm/year; 95% CI 1.03, 2.31; P < 0.03, I2 = 80%; P < 0.001, with no significant increase in HtSDS and bone maturation compared with rhGH therapy alone. Conclusions: For TS patients, rhGH alone or with concomitant use of oxandrolone treatment had advantages on final height.

  11. Technology.

    Science.gov (United States)

    Online-Offline, 1998

    1998-01-01

    Focuses on technology, on advances in such areas as aeronautics, electronics, physics, the space sciences, as well as computers and the attendant progress in medicine, robotics, and artificial intelligence. Describes educational resources for elementary and middle school students, including Web sites, CD-ROMs and software, videotapes, books,…

  12. Little Book, Big Waves: The Epistle of James and Global Stewardship in Bioethics

    Directory of Open Access Journals (Sweden)

    Lora Jean Brake

    2016-03-01

    Full Text Available At first glance the twenty-first century arena of biotechnology and bioethics seems worlds away from the practical concerns of the first century outlook of the New Testament book of James. A closer look, however, reveals that the issues that James addresses have applications to challenges in bioethics. This article will give an overview of James and examine James’ teaching on wealth, poverty, and generosity and its import for the issue of global stewardship in bioethics.  Stewardship concerns both a Christian’s care and management of time, talents, and treasures.  Faithful use of the resources God has given demonstrates the fruitful faith that James writes of in his epistle. The idea of global stewardship, though “stewardship” is grounded in a distinctly Christian ethic, reflects an emerging discussion in bioethics regarding the need to address the inequities present between the money and time spent on biotechnology in some of the world in proportion to the money spent on meeting the basic healthcare needs of the poor of the entire world.  This New Testament epistle gives clear indications of how the Christian is to view wealth and how the Christian is to respond to poverty.  James, though a comparatively small book, sends a crucial message across the years that should greatly impact how Christians view stewardship in terms of global healthcare needs. 

  13. Coexisting diseases modifying each other’s presentation - lack of growth failure in Turner syndrome due to the associated pituitary gigantism.

    Science.gov (United States)

    Dragović, Tamara; Đuran, Zorana; Jelić, Svetlana; Marinković, Dejan; Kiković, Saša; Kuzmić-Janković, Snežana; Hajduković, Zoran

    2016-10-01

    Turner syndrome presents with one of the most frequent chromosomal aberrations in female, typically presented with growth retardation, ovarian insufficiency, facial dysmorphism, and numerous other somatic stigmata. Gigantism is an extremely rare condition resulting from an excessive growth hormone (GH) secretion that occurs during childhood before the fusion of epiphyseal growth plates. The major clinical feature of gigantism is growth acceleration, although these patients also suffer from hypogonadism and soft tissue hypertrophy. We presented a girl with mosaic Turner syndrome, delayed puberty and normal linear growth for the sex and age, due to the simultaneous GH hypersecretion by pituitary tumor. In the presented case all the typical phenotypic stigmata related to Turner syndrome were missing. Due to excessive pituitary GH secretion during the period while the epiphyseal growth plates of the long bones are still open, characteristic stagnation in longitudinal growth has not been demonstrated. The patient presented with delayed puberty and primary amenorrhea along with a sudden appearance of clinical signs of hypersomatotropinism, which were the reasons for seeking medical help at the age of 16. Physical examination of children presenting with delayed puberty but without growth arrest must include an overall hormonal and genetic testing even in the cases when typical clinical presentations of genetic disorder are absent. To the best of our knowledge, this is the first reported case of simultaneous presence of Turner syndrome and gigantism in the literature.

  14. Fatal dissection of the descending aorta after implantation of a stent in a 19-year-old female with Turner's syndrome.

    NARCIS (Netherlands)

    Fejzic, Z.; Oort, A.M. van

    2005-01-01

    We report a fatal dissection of the descending aorta as a complication after a two-staged implantation of a stent to relieve aortic coarctation in a young female with Turner's syndrome. Implantation of the stent, with dilation up to 70 percent, and half a year later re-dilation to 100 percent, was

  15. Elevated second-trimester maternal serum β-human chorionic gonadotropin and amniotic fluid alpha-fetoprotein as indicators of adverse obstetric outcomes in fetal Turner syndrome.

    Science.gov (United States)

    Alvarez-Nava, Francisco; Soto, Marisol; Lanes, Roberto; Pons, Hector; Morales-Machin, Alisandra; Bracho, Ana

    2015-12-01

    The objective of this study was to determine the ability of biochemical analytes to identify adverse outcomes in pregnancies with Turner syndrome. Maternal serum and amniotic fluid (AF) marker concentrations were measured in 73 singleton pregnancies with Turner syndrome (10-22 weeks of gestation). Fetal Turner syndrome was definitively established by cytogenetic analysis. Two subgroups, fetuses with hydrops fetalis versus fetuses with cystic hygroma, were compared. Receiver operating characteristic curves and relative risk were established for a cut-off multiples of the median ≥3.5 for β-subunit of human chorionic gonadotropin (hCG) or AF alpha-fetoprotein (AFP). Forty-nine (67%) of 73 pregnant women had an abnormal maternal serum. While levels of pregnancy-associated plasma protein-A and free β-subunit (fβ)-hCG were not different to those of the control group, AFP, unconjugated estriol and β-hCG concentrations were significantly different in the study group (P Turner syndrome pregnancies with the highest risk of fetal death. © 2015 Japan Society of Obstetrics and Gynecology.

  16. The effects of GH and hormone replacement therapy on serum concentrations of mannan-binding lectin, surfactant protein D and vitamin D binding protein in Turner syndrome

    DEFF Research Database (Denmark)

    Gravholt, Claus Højbjerg; Leth-Larsen, Rikke; Lauridsen, Anna Lis

    2004-01-01

    function. In the present study we examined whether GH or hormone replacement therapy (HRT) in Turner syndrome (TS) influence the serum concentrations of MBL and two other proteins partaking in the innate immune defence, surfactant protein D (SP-D) and vitamin D binding protein (DBP). DESIGN: Study 1...

  17. Influence of X chromosome and hormones on human brain development: a magnetic resonance imaging and proton magnetic resonance spectroscopy study of Turner syndrome

    NARCIS (Netherlands)

    Cutter, William J.; Daly, Eileen M.; Robertson, Dene M. W.; Chitnis, Xavier A.; van Amelsvoort, Therese A. M. J.; Simmons, Andrew; Ng, Virginia W. K.; Williams, Benjamin S.; Shaw, Phillip; Conway, Gerard S.; Skuse, David H.; Collier, David A.; Craig, Michael; Murphy, Declan G. M.

    2006-01-01

    Women with Turner syndrome (TS; 45,X) lack a normal second X chromosome, and many are prescribed exogenous sex and growth hormones (GH). Hence, they allow us an opportunity to investigate genetic and endocrine influences on brain development. We examined brain anatomy and metabolism in 27 adult

  18. A heterozygous mutation in RPGR associated with X-linked retinitis pigmentosa in a patient with Turner syndrome mosaicism (45,X/46,XX).

    Science.gov (United States)

    Zhou, Qi; Yao, Fengxia; Wang, Feng; Li, Hui; Chen, Rui; Sui, Ruifang

    2018-01-01

    Turner syndrome with retinitis pigmentosa (RP) is rare, with only three cases reported based on clinical examination alone. We summarized the 4-year follow-up and molecular findings in a 28-year-old patient with Turner syndrome and the typical features of short stature and neck webbing, who also had X-linked RP. Her main complaints were night blindness and progressive loss of vision since the age of 9 years. Ophthalmologic examination, optical coherent tomographic imaging, and visual electrophysiology tests showed classic manifestations of RP. The karyotype of peripheral blood showed mosaicism (45,X [72%]/46,XX[28%]). A novel heterozygous frameshift mutation (c.2403_2406delAGAG, p.T801fsX812) in the RP GTPase regulator (RPGR) gene was detected using next generation sequencing and validated by Sanger sequencing. We believe that this is the first report of X-linked RP in a patient with Turner syndrome associated with mosaicism, and an RPGR heterozygous mutation. We hypothesize that X-linked RP in this woman is not related to Turner syndrome, but may be a manifestation of the lack of a normal paternal X chromosome with intact but mutated RPGR. © 2017 Wiley Periodicals, Inc.

  19. Body proportions during long-term growth hormone treatment in girls with Turner syndrome participating in a randomized dose-response trial

    NARCIS (Netherlands)

    T.C.J. Sas (Theo); W.J. Gerver; R. de Bruin (Rob); Th. Stijnen (Theo); S.M.P.F. de Muinck Keizer-Schrama (Sabine); T.J. Cole (Trevor); A. van Teunenbroek (Arne); S.L.S. Drop (Stenvert)

    1999-01-01

    textabstractTo assess body proportions in girls with Turner syndrome (TS) during long term GH treatment, height, sitting height (SH), hand (Hand) and foot (Foot) lengths, and biacromial (Biac) and biiliacal (Biil) diameters were measured in 68 girls with TS

  20. Unique unbalanced X;X translocation (Xq22;p11.2) in a woman with primary amenorrhea but without Ullrich-Turner syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Letterie, G.S. [Virginia Mason Medical Center, Seattle, WA (United States)

    1995-12-04

    This is a report of a patient with delayed puberty and a previously unreported translocation 46,X,-X,+der(X),t(X;X) (q22;p11.2) without any manifestations of Ullrich-Turner syndrome. The relationship of this unbalanced translocation to the critical region hypothesis is discussed. 6 refs., 3 figs.

  1. Henry S. Turner, The English Renaissance Stage. Geometry, Poetics, and the Practical Spatial Arts 1580-1630 - Tim Fitzpatrick, Playwright, Space and Place in Early Modern Performance

    Directory of Open Access Journals (Sweden)

    Luigi Giuliani

    2013-05-01

    Full Text Available Review of Henry S. Turner, The English Renaissance Stage. Geometry, Poetics, and the Practical Spatial Arts 1580-1630, Oxford University Press, Oxford, 2006, reimpr. 2010, 326 pp. ISBN: 978-0-19-959545-7 y Tim Fitzpatrick, Playwright, Space and Place in Early Modern Performance, Ashgate, Franham, 2011, 314 pp. ISBN: 978-1-4094-2827-5.

  2. Coexisting diseases modifying each other’s presentation - lack of growth failure in Turner syndrome due to the associated pituitary gigantism

    Directory of Open Access Journals (Sweden)

    Dragović Tamara

    2016-01-01

    Full Text Available Introduction. Turner syndrome presents with one of the most frequent chromosomal aberrations in female, typically presented with growth retardation, ovarian insufficiency, facial dysmorphism, and numerous other somatic stigmata. Gigantism is an extremely rare condition resulting from an excessive growth hormone (GH secretion that occurs during childhood before the fusion of epiphyseal growth plates. The major clinical feature of gigantism is growth acceleration, although these patients also suffer from hypogonadism and soft tissue hypertrophy. Case report. We presented a girl with mosaic Turner syndrome, delayed puberty and normal linear growth for the sex and age, due to the simultaneous GH hypersecretion by pituitary tumor. In the presented case all the typical phenotypic stigmata related to Turner syndrome were missing. Due to excessive pituitary GH secretion during the period while the epiphyseal growth plates of the long bones are still open, characteristic stagnation in longitudinal growth has not been demonstrated. The patient presented with delayed puberty and primary amenorrhea along with a sudden appearance of clinical signs of hypersomatotropinism, which were the reasons for seeking medical help at the age of 16. Conclusion. Physical examination of children presenting with delayed puberty but without growth arrest must include an overall hormonal and genetic testing even in the cases when typical clinical presentations of genetic disorder are absent. To the best of our knowledge, this is the first reported case of simultaneous presence of Turner syndrome and gigantism in the literature.

  3. Coexisting diseases modifying each other’s presentation - lack of growth failure in Turner syndrome due to the associated pituitary gigantism

    OpenAIRE

    Dragović Tamara; Đuran Zorana; Jelić Svetlana; Marinković Dejan; Kiković Saša; Kuzmić-Janković Snežana; Hajduković Zoran

    2016-01-01

    Introduction. Turner syndrome presents with one of the most frequent chromosomal aberrations in female, typically presented with growth retardation, ovarian insufficiency, facial dysmorphism, and numerous other somatic stigmata. Gigantism is an extremely rare condition resulting from an excessive growth hormone (GH) secretion that occurs during childhood before the fusion of epiphyseal growth plates. The major clinical feature of gigantism is growth acceler...

  4. Numerical Magnitude Processing Impairments in Genetic Syndromes: A Cross-Syndrome Comparison of Turner and 22Q11.2 Deletion Syndromes

    Science.gov (United States)

    Brankaer, Carmen; Ghesquière, Pol; De Wel, Anke; Swillen, Ann; De Smedt, Bert

    2017-01-01

    Cross-syndrome comparisons offer an important window onto understanding heterogeneity in mathematical learning disabilities or dyscalculia. The present study therefore investigated symbolic numerical magnitude processing in two genetic syndromes that are both characterized by mathematical learning disabilities: Turner syndrome and 22q11.2 deletion…

  5. Normalization of height in girls with Turner syndrome after long-term growth hormone treatment : Results of a randomized dose-response trial

    NARCIS (Netherlands)

    Sas, TCJ; Keizer-Schrama, SMPFD; Stijnen, T; Jansen, M; Otten, BJ; Hoorweg-Nijman, JJG; Vulsma, T; Massa, GG; Rouwe, CW; Reeser, HM; Gerver, WJ; Gosen, JJ; Rongen-Westerlaken, C; Drop, SLS

    1999-01-01

    Short stature and ovarian failure are the main features in Turner syndrome (TS). To optimize GH and estrogen treatment, we studied 68 previously untreated girls with TS, age 2-11 yr, who were randomly assigned to one of three GH dosage groups: group A, 4 IU/m(2).day (approximate to 0.045 mg/kg.day);

  6. The effect of the weak androgen oxandrolone on psychological and behavioral characteristics in growth hormone-treated girls with Turner syndrome.

    NARCIS (Netherlands)

    Menke, L.A.; Sas, T.C.J.; Visser, M. de; Kreukels, B.P.; Stijnen, T.; Zandwijken, G.R.; Muinck Keizer-Schrama, S.M.P.F. de; Otten, B.J.; Wit, J.M.; Cohen-Kettenis, P.T.

    2010-01-01

    The weak androgen oxandrolone (Ox) increases height gain in growth-hormone (GH) treated girls with Turner syndrome (TS), but may also give rise to virilizing side effects. To assess the effect of Ox, at a conventional and low dosage, on behavior, aggression, romantic and sexual interest, mood, and

  7. Safety and efficacy of oxandrolone in growth hormone-treated girls with Turner syndrome: evidence from recent studies and recommendations for use

    NARCIS (Netherlands)

    Sas, T.C.J.; Gault, E.J.; Bardsley, M.Z.; Menke, L.A.; Freriks, K.; Perry, R.J.; Otten, B.J.; Keizer-Schrama, S.M.; Timmers, H.J.; Wit, J.M.; Ross, J.L.; Donaldson, M.D.

    2014-01-01

    There has been no consensus regarding the efficacy and safety of oxandrolone (Ox) in addition to growth hormone (GH) in girls with Turner syndrome (TS), the optimal age of starting this treatment, or the optimal dose. This collaborative venture between Dutch, UK and US centers is intended to give a

  8. Long-term effects of oxandrolone treatment in childhood on neurocognition, wellbeing and social-emotional functioning in young adults with Turner syndrome

    NARCIS (Netherlands)

    Freriks, K.; Verhaak, C.M.; Sas, T.C.J.; Menke, L.A.; Wit, J.M.; Otten, B.J.; Muinck Keizer-Schrama, S.M.P.F. de; Smeets, D.F.C.M.; Netea-Maier, R.T.; Hermus, A.R.M.M.; Kessels, R.P.C.; Timmers, H.J.L.M.

    2015-01-01

    Turner syndrome (TS) is the result of (partial) absence of one X-chromosome. Besides short stature, gonadal dysgenesis and other physical aspects, TS women have typical psychological features. Since psychological effects of androgen exposure in childhood probably are long-lasting, we explored

  9. The effect of the weak androgen oxandrolone on psychological and behavioral characteristics in growth hormone-treated girls with Turner syndrome

    NARCIS (Netherlands)

    Menke, L.A.; Sas, T.C.J.; Visser, M.; Kreukels, B.P.C.; Stijnen, T.; Zandwijken, G.R.J.; Keizer-Schrama, S.M.P.F.; Otten, B.J.; Wit, J.M.; Cohen-Kettenis, P.T.

    2010-01-01

    The weak androgen oxandrolone (Ox) increases height gain in growth-hormone (GH) treated girls with Turner syndrome (TS), but may also give rise to virilizing side effects. To assess the effect of Ox, at a conventional and low dosage, on behavior, aggression, romantic and sexual interest, mood, and

  10. Long-term effects of oxandrolone treatment in childhood on neurocognition, quality of life and social-emotional functioning in young adults with Turner syndrome

    NARCIS (Netherlands)

    Freriks, K.; Verhaak, C.M.; Sas, T.C.; Menke, L.A.; Wit, J.M.; Otten, B.J.; Keizer-Schrama, S.M.; Smeets, D.F.C.M.; Netea-Maier, R.T.; Hermus, A.R.M.M.; Kessels, R.P.C.; Timmers, H.J.L.M.

    2015-01-01

    Turner syndrome (TS) is the result of (partial) absence of one X-chromosome. Besides short stature, gonadal dysgenesis and other physical aspects, TS women have typical psychological features. Since psychological effects of androgen exposure in childhood probably are long-lasting, we explored

  11. Yearly stepwise increments of the growth hormone dose results in a better growth response after four years in girls with Turner syndrome. Dutch Working Group on Growth Hormone

    NARCIS (Netherlands)

    van Teunenbroek, A.; de Muinck Keizer-Schrama, S. M.; Stijnen, T.; Jansen, M.; Otten, B. J.; Delemarre-van de Waal, H. A.; Vulsma, T.; Wit, J. M.; Rouwé, C. W.; Reeser, H. M.; Gosen, J. J.; Rongen-Westerlaken, C.; Drop, S. L.

    1996-01-01

    To optimize the growth promoting effect of growth hormone (GH), 65 previously untreated girls with Turner syndrome (TS), chronological age (CA) 2-11 yr, were randomized into 3 dosage regimen groups: A, B, and C, with a daily recombinant-human GH dose during 4 study years of 4-4-4-4, 4-6-6-6, and

  12. Line of Sight Stabilization of James Webb Space Telescope

    Science.gov (United States)

    Meza, Luis; Tung, Frank; Anandakrishnan, Satya; Spector, Victor; Hyde, Tupper

    2005-01-01

    The James Webb Space Telescope (JWST) builds upon the successful flight experience of the Chandra Xray Telescope by incorporating an additional LOS pointing servo to meet the more stringent pointing requirements. The LOS pointing servo, referred to in JWST as the Fine Guidance Control System (FGCS), will utilize a Fine Guidance Sensor (FGS) as the sensor, and a Fine Steering Mirror (FSM) as the actuator. The FSM is a part of the Optical Telescope Element (OTE) and is in the optical path between the tertiary mirror and the instrument focal plane, while the FGS is part of the Integrated Science Instrument Module (ISIM). The basic Chandra spacecraft bus attitude control and determination architecture, utilizing gyros, star trackers/aspect camera, and reaction wheels, is retained for JWST. This system has achieved pointing stability of better than 0.5 arcseconds. To reach the JWST requirements of milli-arcsecond pointing stability with this ACS hardware, the local FGCS loop is added to the optical path. The FGCS bandwidth is about 2.0 Hz and will therefore attenuate much of the spacecraft ACS induced low frequency jitter. In order to attenuate the higher frequency (greatet than 2.0 Hz) disturbances associated with reaction wheel static and dynamic imbalances, as well as bearing run-out, JWST will employ a two-stage passive vibration isolation system consisting of (1) 7.0 Hz reaction wheel isolators between each reaction wheel and the spacecraft bus, and (2) a 1.0 Hz tower isolator between the spacecraft bus and the Optical Telescope Element (OTE). In order to sense and measure the LOS, the FGS behaves much like an autonomous star tracker that has a very small field of view and uses the optics of the telescope. It performs the functions of acquisition, identification and tracking of stars in its 2.5 x 2.5 arcminute field of view (FOV), and provides the centroid and magnitude of the selected star for use in LOS control. However, since only a single star is being tracked

  13. James Webb Space Telescope Studies of Dark Energy

    Science.gov (United States)

    Gardner, Jonathan P.; Stiavelli, Massimo; Mather, John C.

    2010-01-01

    time-variable source gives the angular diameter distance through measured time delays of multiple images. Finally, the growth of structure can also be constrained by measuring the mass of the largest galaxy clusters over cosmic time. HST has contributed to the study of dark energy through SN1a and gravitational lensing, as discussed above. HST has also helped to characterize galaxy clusters and the HST-measured constraints on the current Hubble constant H(sub 0) are relevant to the interpretation of dark energy measurements (Riess et al 2009a). HST has not been used to constrain BAO as the large number of galaxy redshifts required, of order 100 million, is poorly matched to HST's capabilities. As the successor to HST, the James Webb Space Telescope (JWST; Gardner et al 2006) will continue and extend HST's dark energy work in several ways.

  14. King James II in Foreign Historiography: the Main Scientifi c Trends and Approaches .

    Directory of Open Access Journals (Sweden)

    Stankov Kirill

    2016-07-01

    Full Text Available The fate of the tragic figure of the British king James II Stuart is considered in the article. In this paper the author pays speсial attention to the history of investigation of the character and politics of this person by the British historians, as well as by the leading European and American specialists on the Early Modern Time. The estimates of James II are of vast variety in the British historiography but at the same time diff erent authors have some similar features in their attitude. Except the apologists the British historians on the whole criticized this king and explain that the majority of the problems connected with him are based on the religious factor that is not really right. On the other hand there are some differences in this negative approaches among various scientifi c schools of British historiography. The Whigs stated that James II tried to limit the personal rights of the Englishmen which was the main result of the English revolution of the middle of the 17th century. The Tories proved that the king neglected the gentry’s property rights and tried to transform the dualistic monarchy into absolutism. The Positivists thought that James II supported the Catholic Counterreformation and fought against the Enlightenment. The revisionists and postrevisionists tried to revalue the person of James II based on the true scientific foundations. A special view on James II’ policy is produced by Non-British authors: German, French and American historians.

  15. Musicalidade e transmissao da voz: James, John e Lucia Joyce // Musicality and transmission of the voice: James, John and Lucia Joyce

    Directory of Open Access Journals (Sweden)

    Renata Mattos

    2012-06-01

    Full Text Available Este artigo tem como objetivo trabalhar a temática da voz, da música e do traço em James Joyce, seu pai John e sua filha Lucia com o intuito de pensar as diferentes saídas possíveis face à questão do sintoma da carência paterna, seja pela elevação ao sinthoma pela escrita de uma obra literária no caso de Joyce, seja pela tentativa de manejo da voz através da dança, no caso de Lucia. Propomos tomar a escrita de James Joyce naquilo que ela nos oferece para pensar a relação entre uma escrita possível da voz e a invocação ao Pai, detendo-nos na transmissão da voz efetuada nestas três gerações da família Joyce, no que cada um deles pôde, de maneiras singulares, criar face ao real. // The aim of this paper is to work the thematic of the voice, the music and the trait in James Joyce, his father John and his daughter Lucia in order to think about the question of the elevation of the symptom of the lack of the father through the writing of James Joyce in his literary work as well as though the relation of Lucia with the dance. Our proposal is to reflect about the writing of Joyce to think about the relation between a possible writing of the voice and the invocation to the Father, as well as the transmission of the voice made in these three generations of the Joyce family in what each one of them could, in different ways, create guided by the real.

  16. From James Hutton’s «Theory of the Earth» to James Lovelock’s «Gaia Hypothesis»

    Directory of Open Access Journals (Sweden)

    García Cruz, Cándido Manuel

    2007-06-01

    Full Text Available In order to understand to what extent James Hutton (1726-1797 can in fact be considered as one of the first forerunners of the Gaia Hypothesis, his Theory of the Earth is analysed into context
    of the three basic traditions of science: organismic, magical and mechanistic. In the some authors’ opinion, Hutton should have written in his theory the Earth was a superorganism and its proper
    study should be by physiology. These supposed assertions are merely a misinterpretation of the Huttonian philosophy, since were never held by this author. Hutton has nevertheless an holistic view which is closer to the Alfred N. Whitehead's organic mechanicism than the James Lovelock's
    Gaia Hypothesis, being therefore a clear forerunner of Ludwig von Bertalanffy and his System
    General Theory.

    Para comprender en qué medida James Hutton (1726-1797 puede ser considerado en realidad como uno de los primeros precursores de la Hipótesis Gaia, se analiza su Theory of the Earth en el contexto de las tres tradiciones básicas de la ciencia: la organísmica, la mágica y la mecanicista. Para algunos autores, Hutton habría sugerido en su teoría que la tierra era un superorganismo y que la forma más correcta para estudiarla era la fisiología. Estas supuestas afirmaciones son simplemente una interpretación errónea del pensamiento huttoniano, puesto que este autor nunca las hizo. Sin embargo, Hutton posee de hecho una visión holística que está más próxima al mecanicismo orgánico de Alfred N. Whitehead que a la Hipótesis Gaia de James Lovelock, siendo por tanto un claro precursor de Ludwig von Bertalanffy y su Teoría General de Sistemas.

  17. The urban short story cycle before Joyce: James Stephens’ Here are Ladies

    OpenAIRE

    Brouckmans, Debbie

    2013-01-01

    Published ten years after George Moore’s The Untilled Field (1903) and one year before James Joyce’s Dubliners (1914), James Stephens’ Here are Ladies (1913) consists of short stories, poems and monologues. The work is not often discussed, presumably because it is rather difficult to define. It is usually classified as a collection of short stories, but this neglects the poems and monologues and fails to do justice to the thematic and formal links between the texts. Therefore, I would like to...

  18. M. Pirgerou on D. Izzo and C. Martinez’s Revisionary Interventions into Henry James

    Directory of Open Access Journals (Sweden)

    2009-07-01

    Full Text Available Donatella Izzo and Carlo Martinez. Revisionary Interventions Into Henry James. Eds. Napoli, 2008. Revisionary Interventions into Henry James is a compilation of a series of papers presented at a colloquium which took place at Università Orientale in Naples, Italy, on October 27, 2006. In her introduction to the volume, Donatella Izzo acknowledges the “rather blatant plagiarism” (7 which lent the book its title.  The borrowing, of course, refers to Donald Pease’s landmark Revisionary Interve...

  19. Technology

    Directory of Open Access Journals (Sweden)

    Xu Jing

    2016-01-01

    Full Text Available The traditional answer card reading method using OMR (Optical Mark Reader, most commonly, OMR special card special use, less versatile, high cost, aiming at the existing problems proposed a method based on pattern recognition of the answer card identification method. Using the method based on Line Segment Detector to detect the tilt of the image, the existence of tilt image rotation correction, and eventually achieve positioning and detection of answers to the answer sheet .Pattern recognition technology for automatic reading, high accuracy, detect faster

  20. James Bay Mercury Committee report of activities. Rapport d'activites du Comite de la Baie James sur le mercure

    Energy Technology Data Exchange (ETDEWEB)

    1990-01-01

    The James Bay Mercury Committee has the mandate to oversee the implementation of the research, monitoring, and remediation programs related to the mercury pollution problem associated with hydroelectric developments in the James Bay region of Quebec. A summary of activities for 1990-91 is presented. Monitoring programs conducted during the year included studies of fish in the western part of the LaGrande complex, in which a decrease in Hg levels first noted in 1990 persisted; and a hair sampling and analysis program conducted on high-risk groups in the James Bay Cree population, which noted a continuing downward trend in Hg levels although this trend was not statistically significant. Research programs included a study of the influence of environmental factors on the release of Hg from vegetation and soil flooded by hydroelectric reservoirs. Mercury research in 1990 allowed confirmation of the fact that a higher Hg uptake in certain fish downstream from the LaGrande 2 station was related to a change in their feeding habits. Other studies were conducted on the effects of methylmercury exposure on health, sociocultural and economic aspects, and mitigative measures. Total expenditures for the year were just over $2 million. 8 refs., 3 figs., 2 tabs.