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Sample records for technology james turner

  1. Turner

    NARCIS (Netherlands)

    Wilton, A.

    2006-01-01

    Joseph Mallard William Turners work, with its aura of mystery, immediately won over his contemporaries and, two centuries later, it continues to delight. His passion for travel adds another dimension to his timeless creations: for more than forty years, from the late 18th century, he journeyed not o

  2. James Fergason, a Pioneer in Advancing of Liquid Crystal Technology

    CERN Document Server

    Sparavigna, Amelia Carolina

    2013-01-01

    James Lee Fergason (1934 - 2008) focused his research on the liquid crystals. His studies correspond to a relevant part of the history of soft matter science and technology of liquid crystals. Here a discussion of some of his researches.

  3. 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

  4. 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

  5. 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 ...

  6. Turner Syndrome

    Directory of Open Access Journals (Sweden)

    Ravinder K. Gupta, Ritu Gupta, Sunil Dutt Sharma

    2006-10-01

    Full Text Available Turner Syndrome is one of the important chromosomal disorders characterised by loss (total or part ofsex chromosome. The manifestations being peripheral edema, short stature, extra skin fold, webbing ofneck, renal and cardiovascular anomalies, sexual infantilism, learning disability etc. We present here aone month female baby who had classical features of Turner Syndrome. The karyotape analysis wasconsistent with the diagnosis.

  7. Turner Syndrome

    Directory of Open Access Journals (Sweden)

    Akcan AB.

    2013-06-01

    Full Text Available Turner syndrome is an important cause of short stature in girls and primer amenorrhea in young women that is usually caused by loss of part or all of an X chromosome. This topic will review the clinical manifestations, diagnosis and management of Turner syndrome.

  8. 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

  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. Turner Syndrome (For Teens)

    Science.gov (United States)

    ... Although girls with Turner syndrome may have certain learning difficulties, most can attend regular school and classes, and usually: write well learn well by hearing memorize information as well as others develop good language skills If you have Turner syndrome, you know ...

  11. Touched by Turner

    Science.gov (United States)

    Adams, Jeff

    2015-01-01

    This is a personal reflection on an encounter with the works of the nineteenth-century painter J. M. W. Turner in London's Tate Britain exhibition "Late Turner: Painting Set Free". The article discusses the deeply subjective nature of engaging with artworks, and touches upon theories that might account for the ineffable but moving…

  12. Ascites in the Puerperium in the Context of a Woman with Turner Syndrome Who Conceived through Assisted Reproductive Technology

    Directory of Open Access Journals (Sweden)

    Nikolaos Tsagkas

    2015-01-01

    Full Text Available The case is about a young female who delivered twins by caesarean section (CS. On the 4th postoperative day, she presented with ascites which was resistant to empirical antibiotic and diuretic treatment. The woman was affected by Turner syndrome (TS; she had a medical background of chronic use of hormonal medication since puberty and conceived through ART- (assisted reproduction techniques- IVF-oocyte donation. It is important to exhibit high suspicion for clot formation in the hepatic vasculature during the puerperium, especially in the case of history of chronic hormone treatment. Ascites albumin gradient and Doppler values lead to the diagnosis of thrombosis and the administration of high doses of anticoagulants is considered to be fundamental.

  13. The Schmidt-Czerny-Turner spectrograph

    Science.gov (United States)

    McClure, Jason P.

    2014-09-01

    Since the invention of the CCD detector in 1969 by George Smith and Willard Boyle, incremental innovations to the dispersive imaging spectrograph have slowly materialized in response the abounding advances in CCD detector technology. The modern Czerny-Turner type spectrograph, arguably the most commonly used instrument in optical spectroscopy, fails to uphold the ever increasing needs today's researchers demand, let alone tomorrow's. This paper discusses an innovative solution to the Czerny-Turner imaging spectrograph bridging a more than 20 year gap in development and understanding. A manifold of techniques in optical spectroscopy both advantaged and enabled by this innovation are expounded upon.

  14. 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)

  15. [Clinical guideline 'Turner syndrome'].

    Science.gov (United States)

    van den Akker, Erica L T; van Alfen, A A E M Janiëlle; Sas, Theo C J; Kerstens, Michiel N; Cools, Martine; Lambalk, Cornelis B

    2014-01-01

    Turner syndrome occurs in women who are missing one X chromosome. The most obvious symptoms are small stature and ovarian failure. Turner patients have an increased risk of a large number of disorders, and should therefore have lifelong medical supervision. Recent insights into patient management have been incorporated into the guidelines. Patients are increasingly involved in their own treatment. In patients with 45,X karyotype, Y-chromosomal material is actively sought in a larger number of cells and/or other tissues, using FISH. Pubertal induction therapy, if required, is initiated at an appropriate age. Egg donation or vitrification are new therapeutic options for fertility treatment. Monitoring for cardiac and vascular disease using cardiac ultrasound and MRI is performed more often, partly in connection with the risk of aortal dissection. The coordination of care of patients with Turner syndrome is concentrated in specialized centres in the Netherlands and Belgium.

  16. Economic page turners

    OpenAIRE

    Frank, Björn

    2011-01-01

    Economic page turners like Freakonomics are well written and there is much to be learned from them - not only about economics, but also about writing techniques. Their authors know how to build up suspense, i.e., they make readers want to know what comes. An uncountable number of pages in books and magazines are filled with advice on writing reportages or suspense novels. While many of the tips are specific to the respective genres, some carry over to economic page turners in an instructive w...

  17. Entrevista a Edith Turner

    Directory of Open Access Journals (Sweden)

    George Mentore

    2009-09-01

    Full Text Available Edith Turner es una de las leyendas de la antropología de nuestro tiempo. El antropólogo que entra en su casa no puede evitar sentir una mezcla de admiración, respeto y excitación al contemplar las máscaras ndembu que cubren sus paredes. Hay también varios artefactos de otros lugares del mundo, como Alaska. Son testigos silenciosos de los más de 60 años de trabajo de campo, inicialmente en colaboración con su esposo Victor Turner y posteriormente por sí misma.

  18. Learning about Turner Syndrome

    Science.gov (United States)

    ... detect it early and if necessary treat with thyroid replacement Older or over-weight women with Turner syndrome are slightly more at risk of developing diabetes. Osteoporosis can develop because of a lack of estrogen, but this can largely be prevented by taking ...

  19. 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.

  20. [Current aspects of Turner syndrome].

    Science.gov (United States)

    Battin, J

    1996-06-01

    Recent progress in the clinical, genetic and therapeutic knowledges of Turner's syndrome are presented. The quality of life of Turner's syndrome can be much improved by early treatment with recombinant human growth hormone which significantly increases the patient's final height, and appropriate oestrogenic therapy at pubertal and adult ages. However, this requires an early diagnosis. Consequently, a karyotype must be performed in every girl with delayed growth, even in the absence of clinical features of the Turner's syndrome.

  1. Turner syndrome with primary hyperparathyroidism

    Science.gov (United States)

    Park, Jungmee; Kim, Yoo-Mi; Choi, Jin-Ho; Lee, Beom Hee; Yoon, Jong Ho; Jeong, Woon-Young

    2013-01-01

    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. PMID:24904858

  2. Anatomy of turner syndrome.

    Science.gov (United States)

    Granger, Andre; Zurada, Anna; Zurada-Zielińska, Agnieszka; Gielecki, Jerzy; Loukas, Marios

    2016-07-01

    Turner syndrome (TS) is one of the most common sex chromosome abnormalities and results from total or partial monosomy of the X chromosome. It occurs in 1 in 2000 newborn girls and is also believed to be present in a larger proportion of conceptuses. There are various anatomic anomalies that have been associated with TS and the consequences of late recognition of these anomalies can be devastating. Aortic dilation and dissection occur at increased rates in TS patients and contribute to the decreased life expectancy of these patients. Such cases have prompted the need for early identification and continuous monitoring. Other anatomic variations increase morbidity in this population, and negatively impact the social and reproductive aspects of their lives. In this review, we summarize the cardiovascular, neurological, genitourinary, otolaryngolical, craniofacial, and skeletal defects associated with TS. To elucidate these morphological variations, novel illustrations have also been constructed. Clin. Anat. 29:638-642, 2016. © 2016 Wiley Periodicals, Inc.

  3. Parsonage-turner syndrome

    Directory of Open Access Journals (Sweden)

    Cristina Schmitt Cavalheiro

    2016-07-01

    Full Text Available The Parsonage-Turner syndrome, amyotrophic neuralgia or neuritis of the brachial plexus is a rare syndrome, of unknown cause. The more frequently affected structures are the suprascapular, axillary nerves and their corresponding muscles. The disease has a wide range of clinical manifestations, and patients usually come to physicians of different specialties with intense and sudden pain complaints in the shoulder, radiating to the arm or neck and that lasts for hours or weeks. When the pain disappears, the patient develops a flaccid paralysis and muscle weakness associated with sensory loss of the shoulder girdle. Accurate diagnosis can be challenging and requires a complete history and detailed physical examination. Nerve conduction velocity and imaging studies help to evaluate the disease. Treatment consists of symptomatic control. The symptoms can persist for more than one year, but most patients recover over time. resolução ao longo do tempo.

  4. Parsonage-Turner syndrome.

    Science.gov (United States)

    Monteiro Dos Santos, Ricardo Barreto; Dos Santos, Saulo Monteiro; Carneiro Leal, Flávio José Câmara; Lins, Otávio Gomes; Magalhães, Carmem; Mertens Fittipaldi, Ricardo Bruno

    2015-01-01

    To describe the clinical, electrophysiological and imaging findings from Parsonage-Turner syndrome and evaluate the results from conservative treatment. Eight cases were studied between February 2010 and February 2012, with a minimum follow-up of one year (mean of 14 months). All the patients answered a clinical questionnaire and underwent functional evaluation using the Constant and Murley score. After clinical suspicion was raised, an electromyography examination was performed to confirm the diagnosis. Eight patients (mean age of 29 years) were evaluated. The right side was affected in 70% of the cases, and the dominant side in 80% of the cases. All the patients reported that their shoulder pain had started suddenly, lasting from one to five days in six cases and up to 15 days in two cases. In three cases, severe atrophy of the deltoid muscle was observed. Hypotrophy of the supraspinatus and infraspinatus muscles was observed in three cases. A winged scapula was observed in the two remaining cases. Electromyography demonstrated involvement of the long thoracic nerve in these last two cases and confirmed the involvement of the axillary and suprascapular nerves in the remaining six cases. The mean score on the Constant and Murley scale was 96 at the end of the conservative treatment with non-steroidal anti-inflammatory drugs and physiotherapy. Six of the eight patients presented good recovery of muscle strength. In the majority of the cases, the functional recovery was good, although muscle strength was not completely restored in some of them.

  5. Otologic Problems in Turner Syndrome

    Directory of Open Access Journals (Sweden)

    Ahmadreza Okhovat

    2011-06-01

    Full Text Available Background and Aim: Turner syndrome is the most common sex chromosome abnormality in females, affecting an estimated 3% of all conceiving females. Otologic disease is a common problem in Turner syndrome patients that is due to a combination of small dysfunction Eustachian tube, palatal dysfunction and cochlear malformation.Methods: This study assessed the otologic and audiologic characteristics of a group of Turner syndrome patients. We studied 40 Turner patients aged 10 to 20 years (mean age: 15.84 years, SD=2.67. Pure tone audiometry was carried out for all of them.Results: Forty percent of the patients reported a history of middle ear disease. Analysis of audiometric data in 40 patients tested reveals normal hearing in 47.5%, pure sensorineural hearing loss in 32.5%, pure conductive hearing loss in 17.5% and mixed hearing loss in 2.5% of patients.Conclusion: Careful follow up during early childhood of children with Turner syndrome is necessary to detect middle ear disease and prevent the probable sequel. However, long term periodic follow up is mandatory even after resolution of middle ear disease to detect sensorineural hearing loss

  6. Parsonage-Turner syndrome

    Directory of Open Access Journals (Sweden)

    Ricardo Barreto Monteiro dos Santos

    2015-06-01

    Full Text Available OBJECTIVE: To describe the clinical, electrophysiological and imaging findings from Parsonage-Turner syndrome and evaluate the results from conservative treatment.METHODS: Eight cases were studied between February 2010 and February 2012, with a minimum follow-up of one year (mean of 14 months. All the patients answered a clinical questionnaire and underwent functional evaluation using the Constant and Murley score. After clinical suspicion was raised, an electromyography examination was performed to confirm the diagnosis.RESULTS: Eight patients (mean age of 29 years were evaluated. The right side was affected in 70% of the cases, and the dominant side in 80% of the cases. All the patients reported that their shoulder pain had started suddenly, lasting from one to five days in six cases and up to 15 days in two cases. In three cases, severe atrophy of the deltoid muscle was observed. Hypotrophy of the supraspinatus and infraspinatus muscles was observed in three cases. A winged scapula was observed in the two remaining cases. Electromyography demonstrated involvement of the long thoracic nerve in these last two cases and confirmed the involvement of the axillary and suprascapular nerves in the remaining six cases. The mean score on the Constant and Murley scale was 96 at the end of the conservative treatment with non-steroidal anti-inflammatory drugs and physiotherapy. Six of the eight patients presented good recovery of muscle strength.CONCLUSIONS: In the majority of the cases, the functional recovery was good, although muscle strength was not completely restored in some of them.

  7. 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.

  8. 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…

  9. Using automatic identification technologies for logistic support on battlefields of the future\\c James D. Kinkade.

    OpenAIRE

    Kinkade, James D.

    1996-01-01

    This thesis analyzes potential uses of automatic identification technologies to support Army forces on future battlefields. The thesis emphasizes radio frequency (RF) tag systems, but also presents an overview and comparison of six other automatic identification technologies (bar codes, optical character recognition, magnetic stripe, smart cards, optical cards, and voice recognition). The dynamics shaping the Army of the future, the characteristics of that Army, and the characteristics of the...

  10. Endocrine autoimmunity in Turner syndrome

    Science.gov (United States)

    2013-01-01

    Background Turner syndrome is caused by numeric and structural abnormalities of the X chromosome. An increased frequency of autoimmunity as well as an elevated incidence of autoantibodies was observed in Turner patients. The aim of this study was to conduct a retrospective analysis of the incidence of autoimmunity in 66 Italian patients affected by Turner syndrome. Methods Sixty-six unselected and consecutive Italian Turner patients were recruited. The association between age, karyotype and the presence of clinical/pre-clinical autoimmune disorders and of autoantibodies was examined. Results Out of the 66 Turner patients, 26 had thyroid autoimmune disorders (39.4%), 14 patients had Hashimoto’s thyroiditis with clinical or subclinical hypothyroidism (21.2%) and 12 patients had circulating anti-thyroid antibodies, echographic pattern of diffuse hypoechogenicity and normal thyroid hormone levels (18.2%). None were affected by Graves’ disease. We analyzed the overall incidence of thyroid autoimmunity within the 3 different age groups 0–9.9, 10–19.9 and 20–29.9 years. No statistically significant difference was observed in the incidence of thyroid autoimmunity within the age-groups (χ2-test p > 0.05). Out of the 66 patients, 31 patients had the 45,X karyotype; within this first group 14 out of 31 patients were affected by autoimmune thyroid disease. A second group of 29 patients included 19 patients with mosaicism, 5 patients with deletions and 5 patients with ring chromosome; out of these 29 patients 7 were affected by autoimmune thyroid disease. A third group included 6 patients with X isochromosome; 5 out of 6 were affected by autoimmune thyroid disease. A statistically significant difference in the frequency of thyroid autoimmunity within the different karyotype groups was observed (χ2-test p = 0.0173). When comparing the X isochromosome group with the pooled group of other karyotypes, of note, the frequency of thyroid autoimmunity was

  11. 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

    2014-01-01

    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. PMID:24926463

  12. 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.

  13. Turner Syndrome (For Parents)

    Science.gov (United States)

    ... Lessons? Visit KidsHealth in the Classroom What Other Parents Are Reading Your Child's Development (Birth to 3 ... become pregnant) as adults. However, advances in medical technology, including hormonal therapy and in vitro fertilization, can ...

  14. 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.

  15. James Welch's Poetry.

    Science.gov (United States)

    Velie, Alan R.

    1979-01-01

    This article examines Surrealism, its definition, and history through example. Special emphasis is on James Welch, a Blackfeet poet from Montana with a comic way of viewing the world in a surrealistic fashion. (RTS)

  16. 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.

  17. Immunological parameters in girls with Turner syndrome

    Science.gov (United States)

    Stenberg, Annika E; Sylvén, Lisskulla; Magnusson, Carl GM; Hultcrantz, Malou

    2004-01-01

    Disturbances in the immune system has been described in Turner syndrome, with an association to low levels of IgG and IgM and decreased levels of T- and B-lymphocytes. Also different autoimmune diseases have been connected to Turner syndrome (45, X), thyroiditis being the most common. Besides the typical features of Turner syndrome (short stature, failure to enter puberty spontaneously and infertility due to ovarian insufficiency) ear problems are common (recurrent otitis media and progressive sensorineural hearing disorder). Levels of IgG, IgA, IgM, IgD and the four IgG subclasses as well as T- and B-lymphocyte subpopulations were investigated in 15 girls with Turners syndrome to examine whether an immunodeficiency may be the cause of their high incidence of otitis media. No major immunological deficiency was found that could explain the increased incidence of otitis media in the young Turner girls. PMID:15563731

  18. Immunological parameters in girls with Turner syndrome

    Directory of Open Access Journals (Sweden)

    Magnusson Carl GM

    2004-11-01

    Full Text Available Abstract Disturbances in the immune system has been described in Turner syndrome, with an association to low levels of IgG and IgM and decreased levels of T- and B-lymphocytes. Also different autoimmune diseases have been connected to Turner syndrome (45, X, thyroiditis being the most common. Besides the typical features of Turner syndrome (short stature, failure to enter puberty spontaneously and infertility due to ovarian insufficiency ear problems are common (recurrent otitis media and progressive sensorineural hearing disorder. Levels of IgG, IgA, IgM, IgD and the four IgG subclasses as well as T- and B-lymphocyte subpopulations were investigated in 15 girls with Turners syndrome to examine whether an immunodeficiency may be the cause of their high incidence of otitis media. No major immunological deficiency was found that could explain the increased incidence of otitis media in the young Turner girls.

  19. Coronary artery anomalies in Turner Syndrome

    DEFF Research Database (Denmark)

    Viuff, Mette H; Trolle, Christian; Wen, Jan;

    2016-01-01

    BACKGROUND: 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. METHODS: Fifty consecutive women with Turner Syndrome (mean age 47 years [17-71]) underwent coronary CTA. Patients were compared with 25 gender-matched controls. RESULTS......: 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...

  20. Health problems in Turner syndrome

    Directory of Open Access Journals (Sweden)

    Mehdi Salek

    2007-06-01

    Full Text Available

    BACKGROUND: Although cardiovascular malformations are well-recognized congenital anomalies in Turner syndrome (TS, other clinical features and a great variety of dysmorphic signs can also be observed. There are few studies about different medical problems in pre-selected groups of patients with Turner syndrome. Therefore, in this study we aimed to assess the prevalence of some medical problems in Turner syndrome.

    METHODS: This was a case series from April to October 2005. We studied 40 patients with TS who attended the Endocrine and Metabolic Research Center. Audiometry, echocardiography, ultrasonography of kidneys and urinary tracts, thyroid function tests, fasting blood sugar, lipid profile as well as anthropometric and blood pressure measurements were assessed in all patients and collected data were analyzed by SPSS version 10.

    RESULTS: Of the 40 subjects 62.5% (n = 25 had cardiac anomalies, 20% (n = 8 had high blood pressure, about 60% (n = 24 suffered from hearing loss and 15% (n = 6 suffered from duplication or dilatation of urinary collecting system. The relative frequency of hypothyroidism, hypercholesterolemia and hypertriglyceridemia was 25% (n = 10, 30% (n = 12 and 32.5% (n = 13, respectively.

    CONCLUSIONS: Medical problems are common in TS patients and the routine screening of their health conditions should be performed at the time of diagnosis and at

  1. James M. Harrison Awards

    Institute of Scientific and Technical Information of China (English)

    2004-01-01

    The James M. Harrison Award for Outstanding Achievement was established by the IUGS Executive Committee in 2004 to honor individuals who have served the Union in an extraordinary fashion for a long period of time, and who have no recognized position as an officer of the Union. The award is named for the late James M. Harrison, an internationally known and universally respected Canadian geologist (Geological Survey of Canada) who was one of the founding fathers of the IUGS and its first President (1961-1964).

  2. Genomic imprinting and Turner syndrome.

    Science.gov (United States)

    Bondy, Carolyn A; Hougen, Helen Y; Zhou, Jian; Cheng, Clara M

    2012-05-01

    The term 'genomic imprinting' refers to selective repression of transcription from distinct chromosomal regions determined by their maternal or paternal inheritance. There are two potentially important aspects of imprinting that may manifest in individuals with X monosomy, or Turner syndrome (TS). Given that men are monosomic for Xm while women are mosaic for Xm:Xp, genomic imprinting of important X-linked genes should be associated with sexually dimorphic traits, e.g., social skills, regional fat deposition and adult height. Such X-imprinted traits are predicted to differ in Turner groups monosomic for Xm vs. Xp. We review relevant studies of psychosocial attributes, regional fat distribution and height in TS related to parent of origin for the single normal X chromosome. In addition, we review recent evidence that monosomy for the X chromosome per se, regardless of the parental origin, may disrupt the normal distribution of autosomal imprint patterns. This may contribute to a high rate of fetal loss in human monosomy via impaired placentation in the most severe cases, and to loss of paternal contribution to growth in the mildest manifestation.

  3. X İzokromozomuna Sahip Turner Sendromlu Bir Olgu Sunumu

    OpenAIRE

    Güven, A; KOÇAK, Ş.; Aydin, M.; ÖKTEN, G.; Oğur, G

    2009-01-01

    A Case Presentation of Turner's Syndrome with X IsochromosomeClassic Turner's Syndrome which has severe findings is the most common cytogenetic type of Turner's Syndrome. i(Xq) isochromosome is also a common cytogenetic abnormality and cases have generally milder clinics than classic Turner's Syndrome. In this report, we present a case of Turner's Syndrome with a characteristic isochromosome i(Xq) structure which exhibits a milder clinical finding due to the lack of s...

  4. Winter Naming: James Welch

    Science.gov (United States)

    Lincoln, Kenneth

    2005-01-01

    In the early 1970s James Welch enters American literature as an Indian postmodernist, a fractured classicist of the West, drawing fragments from both sides of the Buckskin Curtain. Reading the likes of Cesar Vallejo and early modernists from Ezra Pound to Theodore Roethke and decreationists such as Ray Carver (through Richard Hugo's tutelage at…

  5. Winter Naming: James Welch

    Science.gov (United States)

    Lincoln, Kenneth

    2005-01-01

    In the early 1970s James Welch enters American literature as an Indian postmodernist, a fractured classicist of the West, drawing fragments from both sides of the Buckskin Curtain. Reading the likes of Cesar Vallejo and early modernists from Ezra Pound to Theodore Roethke and decreationists such as Ray Carver (through Richard Hugo's tutelage at…

  6. Learning from James Coleman.

    Science.gov (United States)

    Kahlenberg, Richard D.

    2001-01-01

    Examines three works by James Coleman: "Equality of Educational Opportunity" (the Coleman Report), 1966; Coleman's study of school busing and white flight in the 1970s; and his 1980s research on the advantages of private schools. His conclusions included: social composition is more important than school spending and socioeconomic integration is…

  7. Teaching James Baldwin.

    Science.gov (United States)

    Lopate, Phillip

    1998-01-01

    Advocates using James Baldwin's essays to motivate high school and college students to write and think critically. Contends Baldwin is the greatest American essayist since World War II. Cites Baldwin's love of language and his carefully crafted prose. Describes assignments in which students write about their mother or father or about growing up.…

  8. James Parkinson: Parkinson's disease.

    Science.gov (United States)

    Ellis, Harold

    2013-11-01

    Parkinson's disease is a condition that anyone with a modicum of medical knowledge can recognise in the street--as indeed how it was studied by James Parkinson himself. Its three characteristic features are: 1. Increase in the tone of the voluntary muscles (rigidity). 2. Slowness of movement (bradykinesis). 3. Tremor (the characteristic 'pill rolling' movements of the fingers).

  9. 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...

  10. 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...

  11. James R. Thompson

    Science.gov (United States)

    1986-01-01

    James R. Thompon served as director of the Marshall Space Flight Center from September 29, 1986 until July 6, 1989, when he was appointed as NASA Deputy Administrator. Prior to his tenure as Marshall's Director, Thompson served from March to June 1986 as the vice-chairman of the NASA task force investigating the cause of the Space Shuttle Challenger accident. He was credited with playing a significant role in returning the Space Shuttle to flight following the Challenger disaster.

  12. El James de Putnam

    Directory of Open Access Journals (Sweden)

    Rosa M. Calcaterra

    2010-12-01

    Full Text Available El presente trabajo busca reconstruir la posición de Hilary Putnam en torno a la filosofía de James, analizando los aspectos que han contribuido principalmente a la evolución del realismo putnamiano. Luego de precisar la afinidad entre Wittgenstein y James que guía el interés de Putnam por el pragmatismo de James, la autora recorre los temas éticos, epistemológicos y metafísicos a partir de los cuales surgen los aspectos más fructíferos de la filosofía pragmatista. Algunos de ellos son: la conjunción entre antidogmatismo y antiescepticismo, la concepción procesal del conocimiento y de la verdad, la crítica al reduccionismo fisicalista y al realismo del sentido común, y, por último, la tesis de la importanciade la dimensión práctica en el desarrollo del análisis filosófico. Queda así subrayada la actualidad de la batalla jamesiana contra la lógica dicotómica que gobierna nuestra tradición teorética.

  13. The James versions

    Directory of Open Access Journals (Sweden)

    H. Hoetink

    1999-07-01

    Full Text Available [First paragraph] C.L.R. James: His Intellectual Legacies. SELWYN R. CUDJOE & WILLIAM E. CAIN (eds.. Amherst: University of Massachusetts Press, 1995. x + 476 pp. (Cloth USS 55.00, Paper US$ 19.95 C.L.R. James on the "Negro Question." SCOTT MCLEMEE (ed.. Jackson: University Press of Mississippi, 1996. xxxvii + 154 pp. (Paper US$ 16.95 C.L.R. James: A Political Biography. KENT WORCESTER. Albany: State University of New York, 1996. xvi + 311 pp. (Paper US$ 19.95 "Why is there no socialism in the United States?," asked the German sociologist Werner Sombart (1906:43 in a famous essay at the beginning of the present century. Immigrants, it is true, had brought socialist notions with them in the middle of the past century, and had caused some anarchistic wavelets in the 1880s; there had been radical protest movements such as the Grangers, and a fledgling third party like the Populists; there were famous social critics and Utopians like Henry George and Edward Bellamy, but - in striking contrast to other parts of the Hemisphere - a socialist movement of any political weight never came off the ground.

  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.

  16. James E.Thompson

    Institute of Scientific and Technical Information of China (English)

    2008-01-01

    @@ When fresh-faced college graduate James Thompson,an employee of a removals firm for US military personnel stationed in Japan,lost his job in 1964,he emptied his savings account,cashed in his plane ticket back to the US,and started his own company.Thirty-four years on,Thompson's firm,Crown Worldwide,has become one of the world's largest relocation and specialist logistics firms,with offices in more than 50 countries offering a diverse portfolio of services ranging from traditional moving services to fine art transportation and wine cellaring.

  17. The Public James Baldwin

    Directory of Open Access Journals (Sweden)

    Herb Boyd

    2016-12-01

    Full Text Available As this essay notes, James Baldwin, his words and metaphors, pervade public space at countless numbers of intersections. Lines from his plays, novels, and essays have always been an easy and handy reference for writers and artists seeking ways to ground their intentions with deeper meaning and magic. Even in a minority opinion on 22 June 2016 written by Supreme Court Justice Sonia Sotomayor, she cited several authors, including Baldwin, to underscore her point on the Court’s abrogation of the Fourth Amendment.

  18. CYTOGENETIC STUDY OF TURNER SYNDROME IN IRAN

    Directory of Open Access Journals (Sweden)

    S.Y. Seyedna

    1999-08-01

    Full Text Available Turner syndrome is one of the best known chromosome anomalies in human being, by an approximate incidence of 1/2500 female at birth. The cause is a chromosomal aberration, mainly with the karyotype 45, X. Ninety six patients aged 6 to 26 years with short stature were studied for chromosomal anomalies. Out of these 82 were phenotypically female and 14 phenotypically male. Twenty seven showed abnormal karyotypes, 15 were pure Turner with a chromosome complement of 45, X. Seven showed mosaiscim of 45, X/46, XX and 5 showed 45, X/46, XY cell lines. Most of the features of Turner’s syndrome were manifested in the fifteen 45, X Turners while the 45, X/46; XX did not show all the features due to the presence of a normal cell line. Out of the mosaics 45, X/46, XY, four had female phenotypes with normal genitalia while one had a male phenoytype with poorly developed male genitalia.

  19. The American Turners: their past and present

    Directory of Open Access Journals (Sweden)

    Annette R. Hofmann

    2015-06-01

    Full Text Available The United States has been a nation of immigrants, which is reflected by its multicultural society. Different immigrant groups helped shape the American society through their cultures and traditions. One group was the Germans; they represented a unique and forceful current in the stream of immigration to the United States. In their cultural luggage the German immigrant brought their physical culture to North America, Turnen which was organised in clubs or so-called Turnvereine. The American turner movement has its origin in the mid 19th century, and it is still organised on a national level, since the 1930s under the name American Turners. This article summarises the history of the German-American turner movement until the 1990s, and will also relate to various stages of Americanization within this movement.

  20. [Gonadal function in Turner syndrome].

    Science.gov (United States)

    Alves, Márcia; Bastos, Margarida; Almeida Santos, Teresa; Carrilho, Francisco

    2013-01-01

    Introdução: A síndrome de Turner caracteriza-se pela ausência, parcial ou total, de um cromossoma X no sexo feminino, sendo uma das cromossomopatias mais frequentes. O diagnóstico é realizado através do cariótipo e as suas manifestações incluem o hipogonadismo primário, antes ou após a puberdade (disgenesia gonadal). O grau de disfunção e a extensão dos defeitos gonadais são variáveis.Objectivos: Pretendeu-se avaliar a clínica, cariótipo, função gonadal e características ecográficas do útero e ovários de mulheres com síndrome de Turner.Material e Métodos: Estudo retrospectivo de doentes com síndrome de Turner, seguidas nos Serviços de Endocrinologia ou Reprodução Humana dos Hospitais da Universidade de Coimbra - Centro Hospitalar e Universitário de Coimbra, E.P.E. Avaliou-se toda a amostra e consideraram-se o grupo 1 (com puberdade e menarca espontânea) e grupo 2 (sem puberdade espontânea). Parâmetros avaliados: idade do estudo inicial, puberdade, cariótipo, FSH, ecografia pélvica inicial e pós-pubertária, celioscopia e indução pubertária. Estudo estatístico: SPSS (20.0).Resultados: Amostra: 79 doentes, 14,7 ± 6,6 anos. Ausência de sinais pubertários em 57,1%, amenorreia primária 67,1% e secundária 6,6%. Cariótipo: monossomia X-37,2%, mosaico-37,2%, alterações estruturais de X-25,6%. Mediana da FSH 59,5mUI/mL. Ecografia inicial: útero normal-34,2%, atrófico-65,8%; ovários normais-21,6%, atróficos-78,4%, com folículos-5,1%. Ecografia pós-pubertária: útero normal-67,9%, atrófico-32,1%; ovários normais-36,4%, atróficos-63,6%. A laparoscopia realizada em 16 (20,3%) doentes confirmou os achados ecográficos. Duas mulheres com puberdade induzida engravidaram: uma espontaneamente, sem evolução; outra pordoação de ovócitos, evolutiva. Grupo 1 (com puberdade e menarca espontânea): 20 (25,3%) doentes, 16,1 ± 8,9 anos. Puberdade na avaliação inicial: M1-22,2%, M2-33,3%, M3-16,7%, M4-16,7%, M5-11,1%. Cari

  1. Sex hormone replacement in Turner syndrome

    DEFF Research Database (Denmark)

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

    2012-01-01

    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. Turner's syndrome, fibromuscular dysplasia, and stroke.

    Science.gov (United States)

    Lancman, M; Mesropian, H; Serra, P; Granillo, R

    1991-02-01

    We report a 43-year-old woman who presented with a right frontoparietotemporal ischemic stroke. She had been diagnosed with Turner's syndrome during childhood and had a history of chronic estrogen therapy. Cerebral angiography showed lesions characteristics of fibromuscular dysplasia involving the right internal carotid and right vertebral arteries. We are not aware of any previous reports describing an association between fibromuscular dysplasia and Turner's syndrome. Although chronic estrogen therapy cannot be ruled out as a cause of this patient's stroke, we suggest a possible etiologic relation between these two entities.

  3. [Psychiatric symptoms can reveal Turner syndrome].

    Science.gov (United States)

    Thusgaard, Helle; Arnfred, Sidse Marie H

    2013-02-01

    Turner syndrome is usually diagnosed by physical characteristics, i.e. low height and infertility. This case report presents a woman, who was referred to a chromosome analysis at the age of 35 years, due to a specific pattern of psychiatric symptoms. She felt childish, had strong emotional bonds to her family, yet lacked friendships and intimate relationships. She had moderate symptoms of obsessive-compulsive disorder with a sexual content. Confronted with this constellation of symptoms, psychiatrists and psychologists should be aware of Turner syndrome.

  4. Sir James Lighthill

    Science.gov (United States)

    Crighton, D. G.

    1999-05-01

    James Lighthill died on 17 July 1998, at the end of a ten-hour swim round the Channel Island of Sark. He had earlier, at age 49, been the first person ever to do this, and he was carrying out the swim for the seventh time when the exertion revealed a mitral valve weakness which had never been diagnosed, and which led to his sudden death in the water. The swim was one of many long ‘adventure swims’ which Lighthill liked to take, all characterized by strong tidal currents and often heavy seas. And Lighthill took much pleasure through exercising his comprehensive understanding of fluid mechanics first in preparing for them through study of local conditions and then in adapting his performance when, as often, he found that in practice the currents were not as charted and, in fact, often more treacherous.

  5. 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.

  6. 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) wer

  7. 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…

  8. Motor performance in girls with Turner's syndrome

    NARCIS (Netherlands)

    Nijhuis-Van der Sanden, M.W.G.; Smits-Engelsman, B.C.M.; Eling, P.A.T.M.

    2000-01-01

    To validate the movement problems in daily life in girls with Turner's Syndrome (TS), reported by teachers, parents and the girls themselves. We examined whether these girls have an impaired motor ability and a specific pattern of motor impairment. As TS phenotypes are characterised by a particular

  9. 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

  10. 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…

  11. Turner-like Syndrome: a case report

    Directory of Open Access Journals (Sweden)

    M.R. Velletri

    2013-10-01

    Full Text Available A prepubescent 11 year-old girl came to our attention for short stature. Auxological evaluation showed peculiar phenotype. In order to exclude Turner syndrome standard karyotype was performed with normal result. Because of anemia and selective deficiency of the erythroid lineage further investigations were performed and a diagnosis of Blackfan-Diamond anemia was made.

  12. [Turner-like syndrome: a case report].

    Science.gov (United States)

    Velletri, M R; Valenzise, M; Wasniewska, M; Arasi, S; Santisi, A; Romeo, M; Pitrolo, E; Santucci, S; Corica, D; Crisafulli, R; Zirilli, G

    2013-01-01

    A prepubescent 11 year-old girl came to our attention for short stature. Auxological evaluation showed peculiar phenotype. In order to exclude Turner syndrome standard karyotype was performed with normal result. Because of anemia and selective deficiency of the erythroid lineage further investigations were performed and a diagnosis of Blackfan-Diamond anemia was made.

  13. 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 increase

  14. Neurodevelopmental and psychosocial aspects of Turner syndrome.

    Science.gov (United States)

    Ross, J; Zinn, A; McCauley, E

    2000-01-01

    Turner syndrome (TS) is the complex phenotype of human females with complete or partial absence of the second sex chromosome, or monosomy X. A characteristic neurocognitive and psychosocial profile has also been described in TS females. Typically, specific deficits in visual-spatial/perceptual abilities, nonverbal memory function, motor function, executive function, and attentional abilities occur in TS children and adults of varying races and socioeconomic status. TS-associated psychosocial difficulties occur in the areas of maturity and social skills. We hypothesize that a subset of the neurocognitive deficits (visual-spatial/perceptual abilities) are genetically determined and result from abnormal expression of one or more X chromosome genes. In addition, a different subset of these neurocognitive deficits (memory, reaction time, and speeded motor function) result from estrogen deficiency and are at least somewhat reversible with estrogen treatment. The TS-associated psychosocial problems are most likely linked to these core neurocognitive deficits and do not reflect a separate and independent component of the syndrome. Turner syndrome research has progressed significantly over the last decade. The field has moved from descriptive reports based on single individuals or small clinical samples to the use of experimental designs with larger, more diverse and representative samples. This degree of variability among individuals with Turner syndrome in all domains (karyotype or genetic constitution, physical attributes, neurocognitive and social functioning) suggests the need to identify risk and protective factors contributing to the heterogeneity in the phenotype. Active education about TS and participation in patient advocacy groups such as the Turner Syndrome Society of the United States (http://www. turner-syndrome-us.org/) has provided new information for TS adults and families as well as a supportive peer group. MRDD Research Reviews 2000;6:135-141.

  15. The James Baldwin Interview

    Directory of Open Access Journals (Sweden)

    Rosa Bobia

    2013-09-01

    Full Text Available From Rosa Bobia’s The Critical Reception of James Baldwin in France (Peter Lang, 1998; and a special note of thanks to editor Stephen Mazur, Reprise reprints Bobia’s 1985 interview with Baldwin in Atlanta, shortly before his death in France in 1987. Here, as Bobia and Baldwin enter into a brief discussion of his perception of how he was received in France in the 1950s, Baldwin seems to embrace the fact that he was at that time in France largely unknown, an outsider: “I was a maverick.” In light of the fact that in his later years Baldwin came to speak French with great ease and to live comfortably in his home in France, it may seem surprising that his tone in these pages seems to suggest a hint of disinterest in how French critics perceived him—or perhaps it is simply indicative of his deeper affiliations, just as his final burial in the US seems to indicate.

  16. 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"

  17. 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"

  18. Menimbang Gagasan Bryan S. Turner tentang Islam

    Directory of Open Access Journals (Sweden)

    Imam Turmudi

    2015-09-01

    Full Text Available This article explores the study of Islam by an orientalist, Bryan S. Turner. This study aimed to: first, to uncover the things that underlie the history of thought and movement of Orientalism. Second, to determine the thought Bryan S. Turner about Islam, which is specifically intended as a corrective to the thesis produced by Max Weber about his interpretation of Islam. The results of the study reveal that historically Orientalism, or the oriental studies movement emerged in the 18th century. This movement is often associated as a movement that pretend to control and weaken the East, especially Islam. It is not without basis, since the emergence of Orientalism has led to intellectual arrogance by claiming the West as a measure of civilization, because the East presented only in accordance with the construction used by the West. Keywords: Orientalism, Orient, West, civilization.

  19. Turner syndrome case report: A multidisciplinary approach

    Directory of Open Access Journals (Sweden)

    Guilherme Thiesen

    2015-01-01

    Full Text Available Turner syndrome (TS was fi rst reported in the literature in 1938 by Laurel Thatcher Ulrich and Henry Turner. This chromosomal alteration only affects female individuals, who have monosomy of the X chromosome. Only one X chromosome is functional, while the other sexual chromosome is either absent or abnormal. The main oral characteristics are transverse defi ciency of the maxilla, mandibular retrognathism, anterior open bite, cleft palate, premature dental eruption, and alterations in the shape, size and thickness of teeth, with an increased number of roots on the fi rst and second premolars. The objective of this study was to describe the clinical case of a patient with TS undergoing orthodontic treatment, and to emphasize the importance of a multidisciplinary approach to patients with TS.

  20. A volumetric study of parietal lobe subregions in Turner syndrome

    OpenAIRE

    Brown, Wendy E.; Shelli R Kesler; Eliez, Stephan; Warsofsky, Ilana S.; Haberecht, Michael; Reiss, Allan L.

    2004-01-01

    Turner syndrome, a genetic disorder that results from the complete or partial absence of an X chromosome in females, has been associated with specific impairment in visuospatial cognition. Previous studies have demonstrated a relationship between parietal lobe abnormalities and visuospatial deficits in Turner syndrome. We used high-resolution magnetic resonance imaging to measure parietal lobe subdivisions in 14 participants with Turner syndrome (mean age 13 years 5 months, SD 5 years) and 14...

  1. SKELETAL MODIFICATIONS IN TURNER AND KLINEFELTER SYNDROMES

    OpenAIRE

    2011-01-01

    The study aims at identifying the growth disorders in children and adolescents suffering from Turner (45X0) and Klinefelter syndromes (47XXY), in order to correctly establish subsequent treatment strategies. To this extent, a group of children and adolescents formed of 18 girls (9.5-17.5 year-old) and 8 boys (14.5-18.5 year-old) was investigated. Analysis of these subjects demonstrated dimensional modifications of the basis of the skull, of the maxillary and mandibl...

  2. Czerny-Turner imaging spectrometer for broadband spectral simultaneity

    Institute of Scientific and Technical Information of China (English)

    Qingsheng Xue; Shurong Wang; Futian Li

    2009-01-01

    A modified asymmetrical Czerny-Turner arrangement with a fixed plane grating is proposed to correct aberrations over a broadband spectral range by analyzing the dependence of aberrations for different wavelengths.The principle of design is deduced in detail.We compare the performance of this modified Czerny-Turner imaging spectrometer with that of the existing Czerny-Turner arrangement by using a practical Czerny-Turner imaging spectrometer example.The excellent performance of the modified imaging spectrometer is confirmed by simulation with ZEMAX software.

  3. Ullrich-Turner syndrome and neurofibromatosis-1

    Energy Technology Data Exchange (ETDEWEB)

    Schorry, E.K.; Lovell, A.M.; Saal, H.M. [Children`s Hospital Medical Center, Cincinnati, OH (United States); Milatovich, A. [Stanford Health Services Cytogenetics Lab., CA (United States)

    1996-12-30

    There is a well-known association between neurofibromatosis-1 (NF1) and Noonan syndrome-like manifestations, including short stature, short broad neck, and hypertelorism. These anomalies are thought to be due to variable expression of the NF1 gene. We report on two girls with NF1 who were found to have the Ullrich-Turner syndrome. Case 1, a 12-year-old white girl, was followed in a Neurofibromatosis Clinic because of multiple cafe-au-lait spots and a family history of NF1 in her mother and sister. On examination, she had short stature, hypertelorism, and short neck with low posterior hairline. Karyotype was 86% 46,XY/14% 45,X. Case 2, the first child of a woman with NF1, presented at birth with lymphedema of hands and feet and a short broad neck. Karyotype was 45,X. At age 23 months she was short, had epicanthic folds, hypertelorism, narrow palate, right simian crease, 19 cafe-au-lait spots, and axillary freckling. We conclude that chromosome studies should be performed in girls with NF1 who have short stature and Noonan- or Ullrich-Turner-like findings. Dilemmas raised by the dual diagnoses of NF1 and Ullrich-Turner syndrome include potential risks of growth hormone therapy and estrogen replacement therapy. 14 refs., 2 figs.

  4. Familial Turner syndrome: the importance of information.

    Science.gov (United States)

    Periquito, Isabel; Carrusca, Catarina; Morgado, Joana; Robalo, Brígida; Pereira, Carla; de Lurdes Sampaio, Maria

    2016-05-01

    Turner syndrome is a common genetic disorder with an incidence of 1 in 2500 live births. Spontaneous fertility is rare in such patients and is most likely in women with mosaicism or very distal Xp deletions. The authors report an unusual case of familial Turner syndrome in a woman with mosaicism 45,X/46,Xdel(Xp) karyotype with three documented spontaneous pregnancies, which resulted in two daughters with 46,Xdel(X)(p11.4)mat karyotype and a healthy son. The mother was first diagnosed by the age of 11 and did not receive contraceptive medication, due to information that she would be infertile. Both daughters were referred to an endocrinology unit and are now under growth hormone treatment, and have been growing in the 3rd percentile. This family illustrates the complexity and difficulties in counseling, follow-up and treatment in Turner syndrome, namely referring to a tertiary center, fertility and treatment such as growth hormone and hormonal replacement, due to the heterogeneity of the clinical spectrum.

  5. [Y chromosome structural abnormalities and Turner's syndrome].

    Science.gov (United States)

    Ravel, C; Siffroi, J-P

    2009-06-01

    Although specifically male, the human Y chromosome may be observed in female karyotypes, mostly in women with Turner syndrome stigmata. In women with isolated gonadal dysgenesis but otherwise normal stature, the testis determining factor or SRY gene may have been removed from the Y chromosome or may be mutated. In other women with Turner syndrome, the karyotype is usually abnormal and shows a frequent 45,X/46,XY mosaicism. In these cases, the phenotype depends on the ratio between Y positive and 45,X cell lines in the body. When in mosaicism, Y chromosomes are likely to carry structural abnormalities which explain mitotic instability, such as the existence of two centromeres. Dicentric Y isochromosomes for the short arm (idic[Yp]) or ring Y chromosomes (r[Y]) are the most frequent abnormal Y chromosomes found in infertile patients and in Turner syndrome in mosaic with 45,X cells. Although monocentric, deleted Y chromosomes for the long arm and those carrying microdeletions in the AZF region are also instable and are frequently associated with a 45,X cell line. Management of infertile patients carrying such abnormal Y chromosomes must take into account the risk and the consequences of a mosaicism in the offspring.

  6. [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 (heightcases have been reported in the literature. Six of them showing mosaic TS, three karyotypes with structural abnormality of short arm of X chromosome, one with the karyotype 45, X. Conclusion: It is the first time that rapidly progressive puberty in a 45, X/46, X, del(X)(p21) mosaic Turner 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.

  7. 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'.

  8. Nested polymerase chain reaction study of 53 cases with Turner`s syndrome: Is cytogenetically undetected Y mosaicism common?

    Energy Technology Data Exchange (ETDEWEB)

    Binder, G.; Koch, A.; Ranke, M.B. [Univ. Children`s Hospital, Tuebingen (Germany)

    1995-12-01

    Turner`s syndrome patients with Y mosaicism face a high risk of developing gonadoblastoma. Cytogenetic analysis can fail to detect rare cells bearing a normal or structurally abnormal Y chromosome (low level Y mosaicism). We screened 53 individuals with Turner`s syndrome for presence of sex-determining region Y (SRY), the testis-specific protein, Y encoded, gene, and the Y centromeric DYZ3 repeat using nested polymerase chain reaction (PCR). Thirty girls (57%) had the 45,X karyotype, determined through standard analysis of blood lymphocytes. The remaining 23 girls (43%) were mosaics and/or had structural abnormalities in 1 X-chromosome. Genomic DNA from blood leukocytes was amplified using 2 rounds of PCR. This method was sensitive enough to detect 0.0001% male DNA on a female background. None of 53 Turner`s syndrome cases was positive for Y-specific loci after the first round of PCR. After the second round, 2 of 53 Turner`s syndrome cases were positive for SRY mapping to the distal short arm of chromosome Y. In 1 SRY-positive subject, the karyotype was 45,X, and in the other, it was 46,Xi(Xq). None of 53 Turner`s syndrome individuals, including the 2 SRY-positive subjects, were positive for the testis-specific protein, Y encoded, gene on the proximal short arm of chromosome Y or the centromeric DYZ3 repeat. These data exclude low level Y mosaicism in almost all Turner`s syndrome cases tested. 35 refs., 3 figs., 1 tab.

  9. 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

  10. 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

  11. 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.…

  12. Síndrome de Turner e anestesia Síndrome de turner y anestesia Turner syndrome and anesthesia

    Directory of Open Access Journals (Sweden)

    Marcius Vinícius M. Maranhão

    2008-02-01

    Full Text Available JUSTIFICATIVA E OBJETIVOS: A síndrome de Turner é uma anormalidade genética freqüente e complexa, que afeta mulheres e está associada a uma grande variedade de alterações anatômicas e fisiológicas, em especial relacionadas com as vias aéreas e o sistema cardiovascular. Foi objetivo deste artigo fazer uma revisão das alterações anatomofisiológicas da síndrome de Turner de maior interesse para o anestesiologista, discutir o manuseio perioperatório e fazer uma revisão da literatura a respeito da conduta anestésica nesses pacientes. CONTEÚDO: A síndrome de Turner é uma doença genética caracterizada por anormalidade no número ou morfologia do cromossomo sexual. Com mais freqüência o cromossomo sexual é ausente, resultando em cariótipo 45,X e um fenótipo de disgenesia gonadal. As principais alterações anatomofisiológicas de interesse para o anestesiologista incluem pescoço curto e hipoplasias maxilar e mandibular, o que pode provocar uma via aérea difícil. O menor comprimento da traquéia, bem como sua bifurcação mais superior, pode facilitar a intubação endobrônquica e extubação traqueal acidental quando houver tração da cânula traqueal. Cardiopatias, doenças endócrinas e gastrintestinais, alterações hepáticas e renais, comprometimento osteoarticular, bem como alterações oftálmicas e auditivas, são freqüentes, devendo ser detectados durante a avaliação pré-anestésica. As técnicas de anestesia geral ou regional parecem ser seguras nesse tipo de paciente. CONCLUSÕES: A síndrome de Turner é uma anormalidade genética que apresenta importantes alterações anatomofisiológicas de interesse para o anestesiologista. O conhecimento dessas alterações permite manuseio anestésico seguro com baixa morbimortalidade perioperatória.JUSTIFICATIVA Y OBJETIVOS: El síndrome de Turner es una anormalidad genética frecuente y compleja que afecta a las mujeres y que está asociada a una gran variedad de

  13. John James Audubon & the Turkey

    Science.gov (United States)

    Hinshaw, Craig

    2012-01-01

    In the first half of the 1800s, John James Audubon roamed the wilds of America attempting to draw all the birds in their natural habitat. He published his life-sized paintings in a huge book entitled "Birds of America." Audubon developed a unique system of depicting the birds in natural poses, such as flying. After shooting the bird, he would wire…

  14. Analysis of James Joyce's Araby

    Institute of Scientific and Technical Information of China (English)

    石晓静

    2013-01-01

    Araby by James Joyce is much more than a story of first love; it is a portrait of a world that defies the ideal and the dream. The writer concentrates on character rather than on plot to reveal the ironies by using the Setting and atmosphere, and furthermore reinforces the theme and characters in Araby.

  15. [Personage-Turner syndrome--case report].

    Science.gov (United States)

    Tomczykiewicz, Kazimierz; Stepień, Adam; Staszewski, Jacek

    2011-08-01

    Personage-Turner syndrome or acute brachial radiculitis is rare syndrome. In typical cases it was manifested by strong pain of shoulder region and the weakness of muscles which are supplies by individual nerves or part of brachial plexus and in longer time with atrophy. Aetiology of this disease is unknown, probably on the autoimmuno-inflammatory background. Diagnosis is made on the typical clinical picture and in exclusion many illness with impairment brachial plexus. In presented case the course of disease as well as executed investigations suggested that discopathy could be the reason of paresis, however renewed estimation caused the change of the diagnosis.

  16. 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.

  17. [Cephalometric analysis in patients with Turner syndrome].

    Science.gov (United States)

    Szentkirályi, P; Vitályos, G; Szilágyi, A; Márton, S; Keszthelyi, G; Madléna, M

    2000-12-01

    The aim of the study is to assess the cephalometric values of patients with Turner syndrome and to compare them to those of healthy patients in order to determine the severity of orthodontic anomalies and the possibilities of treatment. For our work the modified Ricketts analysis was used. Significant differences were found between the two groups regarding the B1, B2, P, AB ii angles and in relations of C:R. Early stomatologic treatment seems to be very important in this patient's group to prevent dental, periodontal and temporomandibular disorders.

  18. James Cameron’s Avatar: access for all

    NARCIS (Netherlands)

    T. Elsaesser

    2011-01-01

    In this extract from his forthcoming book The Persistence of Hollywood (Routledge, 2012), Thomas Elsaesser examines James Cameron's film Avatar in terms of its auto-representation and personalized narrative, affective engagement with diverse publics and ambition to effect through technology a change

  19. James Webb Space Telescope Primary Mirror Manufacturing

    Science.gov (United States)

    Lightsey, Paul; Gallagher, B.; Chaney, D.; Brown, B.

    2009-01-01

    The James Webb Space Telescope has a segmented primary mirror consisting of 18 hexagonal beryllium primary mirror segment assemblies (PMSA) that have a total collecting area greater than 25 square meters. The PMSAs are designed to operate at cryogenic temperatures (39 K) and to be actively controlled to co-phase the segments. This paper discusses the processes and testing utilized in the manufacture of these mirrors including the critical cryogenic testing performed at the XRCF facility at the NASA Marshall Space Flight Center. The manufacturing team is headed by Ball Aerospace & Technologies Corp (BATC) with support from Brush Wellman for beryllium blank fabrication, Axsys Technologies for the precision machining, L3-Tinsley for the mirror polishing, and QCI for the reflective coating application.

  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

    Science.gov (United States)

    Bertapelli, Fabio; Barros-Filho, Antonio de Azevedo; Antonio, Maria Ângela Reis de Góes Monteiro; Barbeta, Camila Justino de Oliveira; de Lemos-Marini, Sofia Helena Valente

    2014-01-01

    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. PMID:24949463

  2. The current management of Turner Syndrome.

    Science.gov (United States)

    Kriksciuniene, Ruta; Zilaitiene, Birute; Verkauskiene, Rasa

    2016-03-01

    Turner Syndrome (TS) is a rare disease, with the incidence of 1 of 2500 life born females. Characteristic features are: growth retardation, gonadal dysgenesis and impairment, congenital and acquired cardiovascular disorders. New management possibilities in Turner Syndrome are coming along with the new scientific evidence on the pathogenesis of TS developmental, metabolic, cardiovascular and reproductive issues. Attitude to the growth retardation treatment and hormone replacement therapy is changing. The effectiveness of additional androgen doses for growth improvement and low estrogen doses in the early childhood for better puberty induction and metabolic outcomes has been demonstrated recently. There are some new concerns about pregnancy induced progression of cardiovascular pathology in TS. Inadequate follow-up despite strict and clear guidelines of TS patients is still an issue in the health care system in many countries. This rare disorder requires multidiscipline approach of experienced professionals. The aim of this review is to overview recent studies evaluating TS, to focus on the possibilities to avoid crucial outcomes of this disorder and to improve management and follow-up.

  3. 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.

  4. 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.

  5. The epileptology of William Aldren Turner.

    Science.gov (United States)

    Eadie, M J

    2006-01-01

    William Aldren Turner (1864-1945), in his day Physician to the National Hospital, Queen Square, and to King's College Hospital, London, was one of the major figures in the world of epileptology in the period between Hughlings Jackson in the latter part of the 19th century and the advent of electroencephalography in the 1930s. Although he also made contributions to knowledge in other areas of neurology, and with Grainger Stewart wrote a competent textbook on that subject, Turner's main professional interest throughout his career seems to have been epilepsy. On the basis of a series of earlier, rather heavily statistical, personal publications dealing with various aspects of the disorder, he authored what became a well-accepted monograph entitled Epilepsy - a study of the idiopathic disorder, which appeared in 1907, and he also gave the 1910 Morison lectures in Edinburgh on the topic. His writings on epilepsy over a period of three decades consolidated knowledge rather than led to significant advances, but helped maintain interest in the disorder during a rather long fallow phase in the development of the understanding of its nature.

  6. FISH technology in the case of 45, X/46, X, i (Xq) Turner syndrome study%FISH技术在一例45,X/46,X,i(Xq)Turner综合征中的研究

    Institute of Scientific and Technical Information of China (English)

    沈学萍; 张甦; 沈国松

    2012-01-01

    目的 应用荧光原位杂交技术(fluorescence in situ hybridization,FISH)分析一例45,X/46,X,i(Xq)嵌合体,并探讨其形成机理,临床表型与染色体核型的关系.方法 通过染色体常规G显带技术,并联合FISH技术,选用X染色体着丝粒特异DNA探针(CSPX)和X染色体长臂全涂抹探针(Xq),进一步确认异常染色体的来源.结果 G显带分析该患者染色体核型为45,X/46,X,i(Xq),FISH技术证实了该异常染色体为Xq等臂染色体.结论 X短臂单体长臂三体型Turner综合征患者的临床表型与其染色体核型相关;在常规G显带的基础上,应用FISH技术可准确识别异常染色体,对明确诊断及后续治疗有指导意义.%Objective: Fluorescence in situ hybridization analysis of one case of 45, X/46, X, I (Xq) mosaicism and to explore the mechanism of their formation, clinical phenotype and the reaction with chromosome. Methods: Conventional G banding chromosome, linking with FISH technique, used X chromosome specific centromeric DNA probe (CSPX) and the whole X chromosome painting probes (Xq), to make further confirmation for the source of abnormal chromosomes. Results; G - banding karyotype analysis of the patients was 45, X/46, X, I (Xq), FISH technique confirmed the abnormal chromosome Xq isochromosome. Conclusion; Monomer X short arm long arm trisomy Turner syndrome phenotype associated with chromosome; in conventional G - banding, based on the application of FISH technique can accurately identify the abnormal chromosomes, on the diagnosis and follow - up treatment guidance Significance.

  7. 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

  8. Neurofibromatosis type 1 with overlap Turner syndrome and Klinefelter syndrome.

    Science.gov (United States)

    Hatipoglu, Nihal; Kurtoglu, Selim; Kendirci, Mustafa; Keskin, Mehmet; Per, Hüseyin

    2010-02-01

    Turner's syndrome is a sex chromosome disorder. Klinefelter's syndrome is one of the most severe genetic diseases. Neurofibromatosis is an autosomal dominant disorder characterized by cafe-au-lait spots and fibromatous tumors of the skin. In this article, we report the overlap of neurofibromatosis-1 with Turner and Klinefelter syndromes. Thus, these disorders might overlap within the same patient. Due to these cases, we suggest that each patient with Turner-like symptoms or Klinefelter's-like syndrome, be carefully examined for café au lait macules before the initiation of hormone replacement treatment.

  9. 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...

  10. 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

  11. SKELETAL MODIFICATIONS IN TURNER AND KLINEFELTER SYNDROMES

    Directory of Open Access Journals (Sweden)

    Adriana Balan

    2011-12-01

    Full Text Available The study aims at identifying the growth disorders in children and adolescents suffering from Turner (45X0 and Klinefelter syndromes (47XXY, in order to correctly establish subsequent treatment strategies. To this extent, a group of children and adolescents formed of 18 girls (9.5-17.5 year-old and 8 boys (14.5-18.5 year-old was investigated. Analysis of these subjects demonstrated dimensional modifications of the basis of the skull, of the maxillary and mandible length. The absence of a chromsome X or its supranumerary presence influences especially the shape and size of the skull basis, of the mandible and of the intermaxillary relations. Chromosomial X aneuploidy determines dimensional modifications of the anterior and posterior facial height.

  12. Turner syndrome masquerading as normal early puberty

    Science.gov (United States)

    Hong, Yong Hee

    2014-01-01

    Approximately 50% of patients with Turner syndrome (TS) have complete loss of one X chromosome, whereas the rest of the patients with TS display mosaicism or structural abnormalities of the X chromosome. Most well-known common features are short stature and gonadal failure. Approximately one third of girls with TS may enter spontaneous puberty, but only half those completed with menarche. However, some atypical features of TS have been described. Many studies have been conducted to verify and delineate proposed loci for genes pertaining to the TS phenotype, and correlations between karyotype and phenotype. A few rare cases of precocious puberty with TS have been described. Here we describe a case of TS with the Xp22.1 deletion presenting with short final stature, early normal onset of spontaneous puberty, and Graves' disease, without short stature during puberty. PMID:25654070

  13. 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

  14. 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

  15. 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.

  16. Parcels and Land Ownership, Published in 2011, Turner County Government.

    Data.gov (United States)

    NSGIC GIS Inventory (aka Ramona) — This Parcels and Land Ownership dataset as of 2011. The extent of these data is generally Turner County, SD. This metadata was auto-generated through the Ramona GIS...

  17. Parcels and Land Ownership, Published in 2011, Turner County Government.

    Data.gov (United States)

    NSGIC GIS Inventory (aka Ramona) — This Parcels and Land Ownership dataset as of 2011. The extent of these data is generally Turner County, GA. This metadata was auto-generated through the Ramona GIS...

  18. Otological manifestations of turner syndrome: Clinical and radiological findings

    Directory of Open Access Journals (Sweden)

    Đerić Dragoslava

    2016-01-01

    Full Text Available Introduction. Turner syndrome is a chromosomal abnormality where all or a part of one of the X chromosomes is absent or it has other abnormalities. Besides characteristic abnormalities of short stature and infertility, women with Turner syndrome have increased risks for tumors of the central nervous system, especially meningioma and an otologic disease. Meningioma involving the middle ear is extremely rare, and this condition has never been published in association with Turner syndrome. Case Report. We present an otologic manifestation associated with other abnormalities in a patient with Turner syndrome and discuss diagnosis and possible treatment options. Conclusion. Multidisciplinary team approach is essential in these patients in order to evaluate their vulnerability and define therapeutic priorities.

  19. The sub-peritoneal arterial plexus of Sir William Turner.

    Science.gov (United States)

    Shoja, Mohammadali M; Tubbs, R Shane; Loukas, Marious; Shokouhi, Ghaffar; Ghabili, Kamyar; Agutter, Paul S

    2010-08-20

    Sir William Turner (1832-1916) was Professor of Anatomy at the University of Edinburgh. His classic paper of 1863 on the anastomoses between the parietal and visceral branches of the abdominal aorta, later known as the sub-peritoneal arterial plexus of Turner, has mostly been forgotten. Located in the retroperitoneum and surrounding the kidneys and other adjacent structures, this plexus is an important route of collateral circulation. In the current paper, we discuss the sub-peritoneal arterial plexus as described by Turner in 1863 and review the literature concerning its potential clinical significance in the kidney, emphasizing its probable role in the metastatic spread of various tumors of abdominal organs and in the continuing viability of the kidney after renal artery occlusion. A biographical sketch of Sir William Turner is also presented.

  20. 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

  1. 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

  2. Morgagni Hernia in a Girl With Turner Syndrome

    OpenAIRE

    2008-01-01

    This report describes the delayed presentation of right-side Morgagni hernia in a 15-year-old girl with Turner syndrome. It is commonly associated with a number of systemic malformations and abnormalities. Morgagni hernia is a rare type of congenital diaphragmatic hernia, which may not be symptomatic until adulthood when the patient presents with acute symptoms or incarceration. As this result, patients with Turner syndrome should be investigated for Morgagni hernia because there may be an as...

  3. Recommendations for the diagnosis and management of Turner syndrome.

    Science.gov (United States)

    Saenger, P; Wikland, K A; Conway, G S; Davenport, M; Gravholt, C H; Hintz, R; Hovatta, O; Hultcrantz, M; Landin-Wilhelmsen, K; Lin, A; Lippe, B; Pasquino, A M; Ranke, M B; Rosenfeld, R; Silberbach, M

    2001-07-01

    Comprehensive recommendations on the diagnosis of Turner syndrome (TS) and the care of affected individuals were published in 1994. In the light of recent advances in diagnosis and treatment of TS, an international multidisciplinary workshop was convened in March 2000, in Naples, Italy, in conjunction with the Fifth International Symposium on Turner Syndrome to update these recommendations. The present paper details the outcome from this workshop. The genetics and diagnosis of the syndrome are described, and practical treatment guidelines are presented.

  4. St. James Hospital. Lutcher, Louisiana

    Directory of Open Access Journals (Sweden)

    Curtis & Davis, Arquitectos

    1958-05-01

    Full Text Available Un hospital debe estar proyectado, especialmente, para la comodidad y el cuidado de los enfermos. Atendiendo a este postulado, en el hospital St. James se ha buscado que los dormitorios se orienten al sur, y que desde ellos puedan apreciarse a través de amplias superficies acristaladas, la belleza del paisaje circundante. El gran ventanal corrido que compone la fachada meridional está protegido con parteluces giratorios verticales, que cada paciente puede abrir o cerrar a voluntad desde la misma cama.

  5. James Hillman (1926-2011).

    Science.gov (United States)

    Stern, E Mark

    2012-09-01

    Presents an obituary for James Hillman. James Hillman, the third child of Madeline and Julian Hillman, died of metastatic bone cancer at his home in Thompson, Connecticut, on October 27, 2011. The parent of "archetypal psychology," he was born on April 12, 1926, at the Breakers, a then-opulent hotel founded by his family that overlooked the boardwalk and beach in Atlantic City, New Jersey. With an extensive footing in the classics and classical humanism, Jim established the foundations for his emerging archetypal psychology. With archetypal psychology, he was to move away from a dependence on the concept of a personal ego in favor of larger sources that relied on his notion of variegated identity. He proposed a profusion of mythical images that emerge under the rubric of "soul." Soul stands as an appellation indicating a deepening of psychic events, such as when dreams, chaos, and "pathologizing" (the struggles of imagination) are most experienced. For Hillman, psychology could not be taken as a separate discipline isolated from mythology, literature, art, philosophy, politics, religion, natural science, and the ordinary affairs of individuals. Hillman envisioned archetypes as processes that bear evidence to personal suffering and, in so doing, prompt the expansion of compassion. In 1975, Jim was nominated for a Pulitzer Prize for his book Re-Visioning Psychology (Harper & Row). In addition to many other citations, Jim had the high honor in 2001 of receiving the Medal of the Presidency of the Italian Republic.

  6. 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.

  7. Observing Exoplanets with the James Webb Space Telescope

    Science.gov (United States)

    Clampin Mark

    2011-01-01

    The search for exoplanets and characterization of their properties has seen increasing success over the last few years. In excess of 500 exoplanets are known and Kepler has approx. 1000 additional candidates. Recently, progress has been made in direct imaging planets, both from the ground and in space. This presentation will discuss the history and current state of technology used for such discoveries, and highlight the new capabilities that will be enabled by the James Webb Space Telescope.

  8. What more can be done for girls and women with Turner's syndrome and their parents?

    Science.gov (United States)

    Nielsen, J

    1989-01-01

    More should be done for Turner's girls/women and their parents. There is a need for early diagnosis, provision of information to Turner's parents, girls and women, provision of a support system in the form of Turner's contact groups, relevant treatment of all Turner's related disorders and problems at the appropriate age. More information is needed, including information given by physicians and Turner's women in journals, radio and television. This has been happening in Denmark during recent years. Turner's contact groups should be available in all countries, and all Turner's girls and women and their parents should be encouraged to join such groups. More research should be undertaken concerning growth, growth stimulating treatment, oestrogen treatment and in vitro fertilization in Turner's syndrome; more social-psychological studies are also needed.

  9. 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)?...

  10. 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...

  11. Body composition in Egyptian Turner syndrome girls

    Directory of Open Access Journals (Sweden)

    Moushira Erfan Zaki

    2013-01-01

    Full Text Available Objective: This cross-sectional study was undertaken to construct the new body fat % curve and provide body composition reference data for adolescent girls with Turner syndrome (TS. They diagnosed cytogenetically by blood karyotyping and not treated with growth hormone (GH. Materials and Methods: The study included 70 TS girls from age 13 years to age 17 years. Body composition was measured by bioelectrical impedance. Smoothed centile charts were derived by using the least mean square (LMS method. Results: The new body fat curves reflect the increase of body fat mass (FM from age 13 years to age 17 years. Body FM % of Egyptian TS girls was lower when compared with age-matched American untreated TS girls. Conclusion: This study presents the new body fat curves and reference values of body composition for untreated Egyptian TS adolescent girls. The present charts can be used for direct assessment of body FM % for Egyptian TS girls and evaluation for cases on GH treatment or other growth promoting therapy.

  12. [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.

  13. Epigenetic Dysfunction in Turner Syndrome Immune Cells.

    Science.gov (United States)

    Thrasher, Bradly J; Hong, Lee Kyung; Whitmire, Jason K; Su, Maureen A

    2016-05-01

    Turner syndrome (TS) is a chromosomal condition associated with partial or complete absence of the X chromosome that involves characteristic findings in multiple organ systems. In addition to well-known clinical characteristics such as short stature and gonadal failure, TS is also associated with T cell immune alterations and chronic otitis media, suggestive of a possible immune deficiency. Recently, ubiquitously transcribed tetratricopeptide repeat on the X chromosome (UTX), a histone H3 lysine 27 (H3K27) demethylase, has been identified as a downregulated gene in TS immune cells. Importantly, UTX is an X-linked gene that escapes X-chromosome inactivation and thus is haploinsufficient in TS. Mice with T cell-specific UTX deficiency have impaired clearance of chronic viral infection due to decreased frequencies of T follicular helper (Tfh) cells, which are critical for B cell antibody generation. In parallel, TS patients have decreased Tfh frequencies in peripheral blood. Together, these findings suggest that haploinsufficiency of the X-linked UTX gene in TS T cells underlies an immune deficit, which may manifest as increased predisposition to chronic otitis media.

  14. DESCRIBING LYMPHEDEMA IN FEMALES WITH TURNER SYNDROME.

    Science.gov (United States)

    Rothbauer, J; Driver, S; Callender, L

    2015-09-01

    Turner syndrome (TS) is a chromosomal condition affecting an estimated 1 in 2,500 girls where the second X chromosome is missing, or partially formed. This abnormality affects multiple body systems and can lead to short stature, cardiac, neural, and renal abnormalities. Due to the chronic, non-life threatening nature of lymphedema in comparison to other symptoms of TS, it is often ignored by girls and women with TS and their physicians. Consequently, little is known about how lymphedema affects girls and women with TS across the lifespan. Therefore, the objective of the study was to deliver an online survey for females with TS and caregivers in the US, UK, and Canada to provide a worldwide perspective on their current experience with lymphedema within the spectrum of TS. There were 219 participants who completed the survey, and we were able to identify incidence and characteristics of lymphedema across the lifespan. In addition, we found that females with 45,X karyotyping were more likely to report lymphedema symptoms. Lymphedema is not the most significant concern of females with TS, but education, physician evaluation, and assistance with referrals for treatment and management would improve the ease of managing lymphedema in girls and women with TS.

  15. 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

  16. Three decades of turner`s syndrome–An experience from a South Indian genetic center

    Directory of Open Access Journals (Sweden)

    Abdul Mateen Athar

    2012-10-01

    Full Text Available Background: Turner’s syndrome (TS arising from partial or complete X chromosomal monosomy is the most common genetic disorder in females. In South Asian countries like India diagnosis and care of patients with TS is still in the developing stage. Hence this study was undertaken to review details of patients with TS, diagnosed in the Division of Human Genetics (DHG of our centre. Objectives: To study the clinical features and karyotype of patients with turners syndrome. Method: It is a retrospective study of patients with turners syndrome who were karyotyped over 30yrs (1978-2008 in DHG in over hospital. Result: In this retrospective audit, details of 89 patients with Turner’s syndrome were analysed. The most common age group of presentation was 11-15 years and the most frequently observed genetic defect was 45, X followed by 46XX/45 X. Some patients were diagnosed after the age of 20 years. Conclusion: This study brings to light the lack of efficacy in diagnosing and referring patients with TS at a younger age, when therapies for short stature and sexual infantilism are available. In addition systemic and metabolic abnormalities can be detected and treated at the earliest. It is important to increase the awareness of this condition among pediatricians and general practitioners

  17. The James Webb Space Telescope

    Science.gov (United States)

    Gardner, Jonathan P.

    2011-01-01

    The James Webb Space Telescope is the scientific successor to the Hubble and Spitzer Space Telescopes, and is currently the largest scientific project under construction in the United States. It will be a large (6.6m) cold (50K) telescope launched into orbit around the second Earth-Sun Lagrange point. It is a partnership of NASA with the European and Canadian Space Agencies. Science with the James Webb Space Telescope falls into four themes. The End of the Dark Ages: First Light and Reionization theme seeks to identify the first luminous sources to form and to determine the ionization history of the universe. The Assembly of Galaxies theme seeks to determine how galaxies and the dark matter, gas, stars, metals, morphological structures, and black holes within them evolved from the epoch of reionization to the present. The Birth of Stars and Protoplanetary Systems theme seeks to unravel the birth and early evolution of stars, from infall onto dust-enshrouded protostars, to the genesis of planetary systems. The Planetary Systems and the Origins of Life theme seeks to determine the physical and chemical properties of planetary systems around nearby stars and of our own, and investigate the potential for life in those systems. Webb will have four instruments: The Near-Infrared Camera, the Near-Infrared multi-object Spectrograph, and the Tunable Filter Imager will cover the wavelength range 0.6 to 5 microns, while the Mid-Infrared Instrument will do both imaging and spectroscopy from 5 to 28.5 microns. I will conclude the talk with a description of recent technical progress in the construction of the observatory.

  18. CEREBRAL VENOUS THROMBOSIS AND TURNER SYNDROME: A RARE REPORTED ASSOCIATION.

    Science.gov (United States)

    Guler, A; Alpaydin, S; Bademkiran, F; Sirin, H; Celebisoy, N

    2015-01-01

    Turner Syndrome is the only known viable chromosomal monosomy, characterised by the complete or partial absence of an X chromosome. It's the most common chromosomal abnormality in females. Apart from the well known dysmorphic features of the syndrome, it has been associated with a number of vascular pathologies; mainly involving the cardiovascular, renovascular, peripheral vascular and cerebrovascular system. It seems striking that thromboembolism is not considered as a feature of the syndrome. Most of the thromboembolism cases are related to the arterial vascular system; except for some rare reported portal venous thrombosis cases, peripheral venous thrombosis cases and to the best of our knowledge a single case of cerebral venous thrombosis with Dandy Walker malformation and polymicrogyria. We herein report a cerebral venous thrombosis case with Turner Syndrome. With no other found underlying etiology, we want to highlight that Turner Syndrome, itself, may have a relationship not only with the cerebral arterial vascular system pathologies but also with the cerebral venous thrombosis.

  19. [Hypertrophic obstructive cardiomyopathy in a patient with Turner syndrome].

    Science.gov (United States)

    Conte, M R; Bonfiglio, G; Orzan, F; Mangiardi, L; Camaschella, C; Alfarano, A; Brusca, A

    1995-12-01

    A case of hypertrophic obstructive cardiomyopathy in a patient with Turner syndrome is reported. The most frequently associated cardiac anomalies are coarctation of the aorta and bicuspid aortic valve. Hypertrophic cardiomyopathy has never been reported in this syndrome but is frequent in Noonan syndrome. In these two conditions the phenotype may be indistinguishable but the cariotype is different: normal in Noonan and 45X in Turner syndrome. Our patient had the typical somatic features, and the cariotype was 45X in all examined cells. A familial form of hypertrophic cardiomyopathy was excluded by the normal clinical examination of other members of the family. The presence of hypertrophic cardiomyopathy also in Turner syndrome and the recent localization on the long arm of the chromosome 12 of the gene for Noonan syndrome might postulate a common pathogenesis of the two syndromes.

  20. Hearing loss in Adult Women with Turner Syndrome

    OpenAIRE

    Tercero Uribe, Ana Isabel; Salas Puig, Francisco Javier; Santamaria Cano, Joan; Andreu Castelo-Branco, Camil

    2013-01-01

    L'objectiu d'aquest estudi és definir els patrons d'hipoacúsia en dones amb Síndrome de Turner i els possibles factors que poden afavorir el desenvolupament d'hipoacúsia neurosensorial en dones adultes amb Síndrome de Turner. Es va trobar que més de la meitat de les dones amb Sindrome de Turner presenten hipoacúsia a l'audiometria, confirmat pels potencials evocats auditius de tronc; la hipoacúsia neurosensorial és el tipus de pèrdua d'audició més freqüent entre dones de mitjana edat amb sínd...

  1. Psychosocial aspects of patients with the Ullrich-Turner syndrome.

    Science.gov (United States)

    Chen, H; Faigenbaum, D; Weiss, H

    1981-01-01

    Family and social background and psychosexual and psychomotor development were studied on 24 patients with the Ullrich-Turner syndrome ranging in age from 9 months to 18 years. Infancy is often characterized by mild feeding problems and sleeping difficulty. Early motor development is normal or mildly delayed but acquisition of speech and toilet training appear to be appropriate for age. Social skills are excellent. Psychopathology is not a significant aspect of the Ullrich-Turner syndrome. Psychological tests support the findings of verbal IQ exceeding performance IQ, space-form perceptual deficits, and visual motor deficit. No difference of intelligence was found between apparently nonmosaic and mosaic types of Ullrich-Turner syndrome. The degree of parental understanding and appropriate attitudes toward the patient and the syndrome largely depend on good family relationships, the socioeconomic level of the family, parents' personalities and their ability to cope with the implications of the syndrome, and appropriate physician's counseling.

  2. Primary Biliary Cirrhosis in A Patient with Turner Syndrome

    Directory of Open Access Journals (Sweden)

    Piotr Milkiewicz

    2005-01-01

    Full Text Available An increased prevalence of X chromosome monosomy has recently been demonstrated in patients with primary biliary cirrhosis (PBC. Chronic cholestasis of unknown etiology is a common clinical feature in patients with Turner syndrome who reach the fourth and fifth decades of life. A 37-year-old patient with Turner syndrome who presented with clinical and biochemical features of chronic cholestasis is described. Subsequent investigations confirmed the diagnosis of PBC. The patient did not respond to the medical treatment and was referred for liver transplant assessment. The present case may support the importance of X chromosome genes in the development of genetic predisposition to PBC, and emphasizes the necessity for a systematic study of the prevalence of PBC in patients with Turner syndrome.

  3. Ganglioneuroma of adrenal gland in a patient with Turner syndrome.

    Science.gov (United States)

    Kamoun, Mahdi; Mnif, Mouna Feki; Rekik, Nabila; Belguith, Neila; Charfi, Nadia; Mnif, Lilia; Elleuch, Mouna; Mnif, Fatma; Kamoun, Thouraya; Mnif, Zeinab; Kamoun, Hassen; Sellami-Boudawara, Tahia; Hachicha, Mongia; Abid, Mohamed

    2010-04-01

    A 15-year-old girl with Turner syndrome was unexpectedly found to have a left suprarenal mass. Extensive investigations showed a clinically and biochemically inapparent mass. Computed tomography disclosed a well-defined solid lesion in the left adrenal measuring 6.5 x 5 cm with minimal contrast enhancement. Laparoscopic adrenalectomy was done. Histologic examination revealed an encapsulated mass originated from the left adrenal medulla. Tumor tissue comprised abundant collagen fibers and spindloid cells admixed with mature ganglion cells. The tumor was diagnosed as left adrenal ganglioneuroma. According to literature, we report the eighth case of ganglioneuroma complicating Turner syndrome. Patients with this syndrome are predisposed to the development of neuroblastoma and related tumors. Reasons for this predisposition might relate to genetic and hormonal factors. Given that these tumors are often limited stage and of good prognosis, we recommend their screening in all patients with Turner syndrome.

  4. Sir William Turner and his studies on the mammalian placenta.

    Science.gov (United States)

    Magee, Reginald

    2003-06-01

    William Turner was appointed Professor of Anatomy at the University of Edinburgh in 1867, and from 1903 until his death in 1916, he was Principal and Vice-Chancellor. He was an outstanding teacher and many of those he taught went on to occupy chairs of anatomy. He published widely on anatomical subjects and one of his interests was comparative anatomy and physiology of the placenta. This paper takes a brief look at Turner's studies on the anatomical structure of the placenta, its comparative anatomy, his thoughts about its physiology and its place in the evolutionary process. At the time, these lectures constituted an anatomical and physiological classic. At the time Turner prepared his lectures, which were delivered in 1875 and 1876, little was known about the gestatory process in marsupials or monotremes. These mammals have a very brief period of intrauterine gestation and placentation and mention is made of studies that have been done in recent times on this subject.

  5. 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.

  6. Morgagni Hernia in a Girl With Turner Syndrome

    Directory of Open Access Journals (Sweden)

    Şenay Arıkan

    2008-08-01

    Full Text Available This report describes the delayed presentation of right-side Morgagni hernia in a 15-year-old girl with Turner syndrome. It is commonly associated with a number of systemic malformations and abnormalities. Morgagni hernia is a rare type of congenital diaphragmatic hernia, which may not be symptomatic until adulthood when the patient presents with acute symptoms or incarceration. As this result, patients with Turner syndrome should be investigated for Morgagni hernia because there may be an association between the two, and Morgagni hernia may be asymptomatic. Turk Jem 2008; 12: 60-2

  7. Recurrent Vocal Fold Paralysis and Parsonage-Turner Syndrome

    Science.gov (United States)

    Joffily, Lucia; Vincent, Maurice Borges

    2013-01-01

    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. PMID:24288639

  8. Hyperinsulinemic Hypoglycaemia in a Turner Syndrome with Ring (X

    Directory of Open Access Journals (Sweden)

    Michela Cappella

    2015-01-01

    Full Text Available Hyperinsulinemic hypoglycaemia (HH is a group of clinically, genetically, and morphologically heterogeneous disorders characterized by dysregulation of insulin secretion by pancreatic beta cells. HH can either be congenital genetic hyperinsulinism or associated with metabolic disorder and syndromic condition. Early identification and meticulous management of these patients is vital to prevent neurological insult. There are only three reported cases of HH associated with a mosaic, r(X Turner syndrome. We report the four cases of an infant with a mosaic r(X Turner genotype and HH responsive to diazoxide therapy.

  9. 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.

  10. 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'.

  11. 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');

  12. The James Webb Space Telescope

    CERN Document Server

    Gardner, J P; Clampin, M; Doyon, R; Greenhouse, M A; Hammel, H B; Hutchings, J B; Jakobsen, P; Lilly, S J; Long, K S; Lunine, J I; McCaughrean, M J; Mountain, M; Nella, J; Rieke, G H; Rieke, M J; Rix, H W; Smith, E P; Sonneborn, G; Stiavelli, M; Stockman, H S; Windhorst, R A; Wright, G S; Gardner, Jonathan P.; Mather, John C.; Clampin, Mark; Doyon, Rene; Greenhouse, Matthew A.; Hammel, Heidi B.; Hutchings, John B.; Jakobsen, Peter; Lilly, Simon J.; Long, Knox S.; Lunine, Jonathan I.; Caughrean, Mark J. Mc; Mountain, Matt; Nella, John; Rieke, George H.; Rieke, Marcia J.; Rix, Hans-Walter; Smith, Eric P.; Sonneborn, George; Stiavelli, Massimo; Windhorst, Rogier A.; Wright, Gillian S.

    2006-01-01

    The James Webb Space Telescope (JWST) is a large (6.6m), cold (50K), infrared-optimized space observatory that will be launched early in the next decade. The observatory will have four instruments: a near-infrared camera, a near-infrared multi-object spectrograph, and a tunable filter imager will cover the wavelength range, 0.6 to 5.0 microns, while the mid-infrared instrument will do both imaging and spectroscopy from 5.0 to 29 microns. The JWST science goals are divided into four themes. The End of the Dark Ages: First Light and Reionization theme seeks to identify the first luminous sources to form and to determine the ionization history of the early universe. The Assembly of Galaxies theme seeks to determine how galaxies and the dark matter, gas, stars, metals, morphological structures, and active nuclei within them evolved from the epoch of reionization to the present day. The Birth of Stars and Protoplanetary Systems theme seeks to unravel the birth and early evolution of stars, from infall on to dust-e...

  13. Cephalometric analysis of adults with Turner syndrome.

    Science.gov (United States)

    Svanberg, Christina; Norevall, Lars-Inge; Ekman, Bertil; Wahlberg, Jeanette; Bågesund, Mats

    2016-01-01

    Turner syndrome (TS) is a genetic disorder of females with a prevalence of 1/2000-3000 live female births. The aim of this study was to compare cephalometric variables from adult women diagnosed with TS to a standardized reference group of 31-year old healthy women, and to evaluate the possible effects of human growth hormone (hGH) therapy in women with TS. Registered TS subjects in the Southeast region of Sweden were invited to take part in the study. Twenty-one women aged 36 ± 13(18-57) years accepted participation. Lateral radiographs of the head were analyzed using standard cephalometric methods (Hasund analysis) and with the commercially available soft-ware program FACAD. Comparisons were made with roentgen-cephalometric standards from a reference group of nineteen 31-year old Swedish women. Analysis of the cephalometric radiographs from the TS subjects showed a more retrognathic maxilla (SNA 80.3 ± 5.4) (p = 0.0460) and mandible (SNB 77.0 ± 5.2) (p = 0.0014), and a correspondingly backward position of the chin (SN/Pg 78.9 ± 5.5) (p = 0.0046) as compared to the reference values of 31-year old women (SNA 83.2 ± 3.0, SN B 81.5 ± 2.3 and SNPg 83.0 ± 2.3, respectively). In addition there was an increased posterior inclination of the maxilla (SN/NL 8.6 ± 4.1), as compared to the reference values (SN/NL 5.3 ± 2.7) (p = 0.0048). There were no significant differences regarding sagittal or vertical jaw relations, mandibular inclination or cranial base angle between the TS-group and the 31-year olds with the reference values. No significant difference was seen in jaw relationship, as measured by the ANB value, however the Wits(index) (3.3 ± 3.5) was higher (p = 0.0001) than the reference values (-0.1 ± 1.8). Subjects with or without previous hGH administration did,not show any significant differences in cephalometric values. In conclusion, women with TS had a significantly more retrognathic maxilla (SNA) and mandible (SNB) and a correspondingly significantly

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

    African Journals Online (AJOL)

    IRORO YARHERE

    Keywords: Turner's syndrome, short stature, growth hormone deficiency, ... CD is a 15-year-old female who presented to the consultant paediatric .... system thus promoting growth.4,7,8 Randomised controlled trials have ... improve non-verbal processing speed, motor performance and verbal and non-verbal memory.

  15. Value of abdominal angiography in Turner's syndrome

    Energy Technology Data Exchange (ETDEWEB)

    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.

  16. 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…

  17. [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

  18. 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…

  19. 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…

  20. 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.…

  1. 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 Areed

  2. Areeda-turner in two-sided markets

    NARCIS (Netherlands)

    Behringer, S.; Filistrucchi, L.

    2015-01-01

    We extend the Areeda–Turner rule to two-sided markets. We show that a two-sided monopolist may find it short-run profit-maximizing to charge a price below marginal cost on one side of the market. Hence showing that the price is below marginal cost on one side of a two-sided market cannot be consider

  3. Areeda-turner in two-sided markets

    NARCIS (Netherlands)

    Behringer, S.; Filistrucchi, L.

    2015-01-01

    We extend the Areeda–Turner rule to two-sided markets. We show that a two-sided monopolist may find it short-run profit-maximizing to charge a price below marginal cost on one side of the market. Hence showing that the price is below marginal cost on one side of a two-sided market cannot be

  4. 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

  5. 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

  6. 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...

  7. 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 Areed

  8. Areeda-turner in two-sided markets

    NARCIS (Netherlands)

    Behringer, S.; Filistrucchi, L.

    2015-01-01

    We extend the Areeda–Turner rule to two-sided markets. We show that a two-sided monopolist may find it short-run profit-maximizing to charge a price below marginal cost on one side of the market. Hence showing that the price is below marginal cost on one side of a two-sided market cannot be consider

  9. 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 increase

  10. 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 t

  11. Joseph Mallord William Turner: Burning of the Houses of Parliament.

    Science.gov (United States)

    Solender, Katherine; Buchanan, Penelope D.

    1989-01-01

    Provides a lesson plan that introduces students in grades seven-nine to artistic depiction of a specific time and place. Explores Joseph Mallord William Turner's "Burning of the Houses of Parliament" as both visual record and emotional interpretation. Lists instructional strategies for description, analysis, interpretation, and judgment. Suggests…

  12. Recent Developments in Diagnosis and Care for Girls in Turner Syndrome

    Directory of Open Access Journals (Sweden)

    Carolyn Bondy

    2014-01-01

    Full Text Available The past decade produced important advances in molecular genetic techniques potentially supplanting the traditional cytogenetic diagnosis of Turner syndrome (TS. Rapidly evolving genomic technology is used to screen 1st trimester pregnancies for sex chromosomal anomalies including TS, and genomic approaches are suggested for the postnatal diagnosis of TS. Understanding the interpretation and limitations of new molecular tests is essential for clinicians to provide effective counseling to parents or patients impacted by these tests. Recent studies have advanced the concept that X chromosome genomic imprinting influences expression of the Turner phenotype and contributes to gender differences in brain size and coronary disease. Progress in cardiovascular MRI over the past decade has dramatically changed our view of the scope and criticality of congenital heart disease in TS. Cardiac MRI is far more effective than transthoracic echocardiography in detecting aortic valve abnormalities, descending aortic aneurysm, and partial anomalous pulmonary venous return; recent technical advances allow adequate imaging in girls as young as seven without breath holding or sedation. Finally, important developments in the area of gynecological management of girls and young women with TS are reviewed, including prognostic factors that predict spontaneous puberty and potential fertility and recent practice guidelines aimed at reducing cardiovascular risk for oocyte donation pregnancies in TS.

  13. 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

  14. 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.

  15. 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.

  16. Neuroanatomical spatial patterns in Turner syndrome.

    Science.gov (United States)

    Marzelli, Matthew J; Hoeft, Fumiko; Hong, David S; Reiss, Allan L

    2011-03-15

    Turner syndrome (TS) is a highly prevalent genetic condition caused by partial or complete absence of one X-chromosome in a female and is associated with a lack of endogenous estrogen during development secondary to gonadal dysgenesis. Prominent cognitive weaknesses in executive and visuospatial functions in the context of normal overall IQ also occur in affected individuals. Previous neuroimaging studies of TS point to a profile of neuroanatomical variation relative to age and sex matched controls. However, there are no neuroimaging studies focusing on young girls with TS before they receive exogenous estrogen treatment to induce puberty. Information obtained from young girls with TS may help to establish an early neural correlate of the cognitive phenotype associated with the disorder. Further, univariate analysis has predominantly been the method of choice in prior neuroimaging studies of TS. Univariate approaches examine between-group differences on the basis of individual image elements (i.e., a single voxel's intensity or the volume of an a priori defined brain region). This is in contrast to multivariate methods that can elucidate complex neuroanatomical profiles in a clinical population by determining the pattern of between-group differences from many image elements evaluated simultaneously. In this case, individual image elements might not be significantly different between groups but can still contribute to a significantly different overall spatial pattern. In this study, voxel-based morphometry (VBM) of high-resolution magnetic resonance images was used to investigate differences in brain morphology between 13 pediatric, pre-estrogen girls with monosomic TS and 13 age-matched typically developing controls (3.0 T imaging: mean age 9.1±2.1). A similar analysis was performed with an older cohort of 13 girls with monosomic TS and 13 age-matched typically developing controls (1.5 T imaging: mean age 15.8±4.5). A multivariate, linear support vector machine

  17. 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…

  18. The James Webb Space Telescope (JWST), The First Light Machine

    Science.gov (United States)

    Stahl, H. Philip

    2013-01-01

    Scheduled to begin its 10 year mission after 2018, the James Webb Space Telescope (JWST) will search for the first luminous objects of the Universe to help answer fundamental questions about how the Universe came to look like it does today. At 6.5 meters in diameter, JWST will be the world s largest space telescope. This talk reviews science objectives for JWST and how they drive the JWST architecture, e.g. aperture, wavelength range and operating temperature. Additionally, the talk provides an overview of the JWST primary mirror technology development and fabrication status.

  19. 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.

  20. 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.

  1. William james, gustav fechner, and early psychophysics.

    Science.gov (United States)

    Hawkins, Stephanie L

    2011-01-01

    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.

  2. Cognition and behavior in Turner syndrome: a brief review.

    Science.gov (United States)

    Hong, D S; Reiss, A L

    2012-05-01

    There is increasing evidence that Turner syndrome is associated with a distinct pattern of cognitive and neurophysiological characteristics. Typically this has been characterized by relative strengths in verbal skills, contrasting with relative weaknesses in arithmetic, visuospatial and executive function domains. Potential differences in social cognitive processing have also been identified. More recently, applications of neuroimaging techniques have further elucidated underlying differences in brain structure, function and connectivity in individuals with Turner syndrome. Ongoing research in this area is focused on establishing a unified mechanistic model incorporating genetic influences from the X chromosome, sex hormone contributions, neuroanatomical variation and differences in cognitive processes. This review broadly covers current understanding of how X-monosomy impacts neurocognitive phenotype both from the perspective of cognitive-behavioral and neuroimaging studies. Furthermore, relevant clinical aspects of identifying potential learning difficulties and providing anticipatory guidance for affected individuals with TS, are briefly discussed.

  3. 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...... with excessive telomere loss, at least when studied in peripheral blood leucocytes, and thus quite different from other premature ageing syndromes....

  4. James Watt making the world anew

    CERN Document Server

    Russell, Ben

    2014-01-01

    Scottish inventor and mechanical engineer James Watt (1736-1819) is best known for his pioneering work on the steam engine that became fundamental to the incredible changes and developments wrought by the Industrial Revolution. But in this new biography, Ben Russell tells a much bigger, richer story, peering over Watt's shoulder to more fully explore the processes he used and how his ephemeral ideas were transformed into tangible artifacts. Over the course of the book, Russell reveals as much about the life of James Watt as he does a history of Britain's early industrial transformation and the

  5. 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.

  6. HYDRAULICS, TURNER COUNTY, SOUTH DAKOTA, USA

    Data.gov (United States)

    Federal Emergency Management Agency, Department of Homeland Security — Recent developments in digital terrain and geospatial database management technology make it possible to protect this investment for existing and future projects to...

  7. Skeletal muscle microvascular function in girls with Turner syndrome

    OpenAIRE

    West, Sarah L.; Clodagh S. O'Gorman; Alyaa H. Elzibak; Jessica Caterini; Noseworthy, Michael D; Tammy Rayner; Jill Hamilton; Wells, Greg D.

    2014-01-01

    Background: Exercise intolerance is prevalent in individuals with Turner Syndrome (TS). We recently demonstrated that girls with TS have normal aerobic but altered skeletal muscle anaerobic metabolism compared to healthy controls (HC). The purpose of this study was to compare peripheral skeletal muscle microvascular function in girls with TS to HC after exercise. We hypothesized that girls with TS would have similar muscle blood-oxygen level-dependent (BOLD) magnetic resonance imaging (MRI) s...

  8. [Pemphigoid gestationis and Turner syndrome; an uncommon association].

    Science.gov (United States)

    Cadoret, F; Lorenzini, F; Parant, O

    2015-09-01

    The authors report an uncommon case of a pregnant woman with Turner syndrome (TS) whose pregnancy (with favorable outcome) was complicated by a pemphigoid gestationis in third trimester. This case points out that monitoring of these pregnancies is not limited to cardiac monitoring. Prevalence of auto-immune diseases is increased in the TS. Auto-immune dermatoses, such as pemphigoid gestationis, are one of the potential complications during pregnancy and should be known to practitioners.

  9. Parsonage-Turner Syndrome rather than Zoster Neuritis

    Directory of Open Access Journals (Sweden)

    Karim Gariani

    2011-07-01

    Full Text Available We report the case of an 86-year-old man with acute left shoulder pain, followed by left limb monoparesis and a herpetic rash on the left upper limb and thoracic region. This situation presented a diagnostic challenge because of the simultaneity of symptoms attributable to Parsonage-Turner syndrome and herpes zoster neuropathy. A detailed clinical history, physical examination and electroneuromyography were essential to distinguish the neurological structures involved and to ascertain the diagnosis.

  10. Pulmonary Arteriovenous Malformation in Cryptogenic Liver Cirrhosis Associated with Turner's Syndrome.

    Science.gov (United States)

    Kim, Ji Hoon; Jung, Young Kul; Jeong, Eun Seok; Seo, Yeon Seok; Yim, Hyung Joon; Yeon, Jong Eun; Shim, Jae Jeong; Byun, Kwan Soo; Lee, Chang Hong

    2010-06-01

    Turner's syndrome is a genetic disorder of the sex chromosomes (e.g., 45,X or 45,X/46,XX) that manifests as various congenital anomalies. Despite its numerous extragonadal manifestations and frequent accompanying abnormalities in liver function tests, liver cirrhosis associated with Turner's syndrome has not been reported in Korea. Moreover, pulmonary arteriovenous malformations (PAVMs) have rarely been reported in association with liver cirrhosis, but there have been no reports of PAVMs occurring in cryptogenic liver cirrhosis associated with Turner's syndrome. We report a case of PAVM that occurred in cryptogenic liver cirrhosis associated with Turner's syndrome.

  11. Nonclassic congenital adrenal hyperplasia misdiagnosed as Turner syndrome.

    Science.gov (United States)

    Mishra, Vineet V; Pritti, Kumari; Aggarwal, Rohina; Choudhary, Sumesh

    2015-01-01

    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.

  12. 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.

  13. Epidemiological, endocrine and metabolic features in Turner syndrome.

    Science.gov (United States)

    Gravholt, Claus Højbjerg

    2004-12-01

    Turner syndrome is one of the more common genetic disorders, associated with abnormalities of the X chromosome, and occurring in about 50 per 100 000 liveborn girls. Turner syndrome is usually associated with reduced adult height, gonadal dysgenesis and thus insufficient circulating levels of female sex steroids, and infertility. A number of other signs and symptoms are seen more frequently with the syndrome. Morbidity and mortality are increased. The average intellectual performance is within the normal range. A number of recent studies have provided new insights with respect to epidemiology, cardiology, endocrinology and metabolism. Treatment with GH during childhood and adolescence allows a considerable gain in adult height, although very-long-term consequences of this treatment are not clear. Puberty has to be induced in most cases, and female sex hormone replacement therapy is given during the adult years. The proper dose of hormone replacement therapy (HRT) has not been established, and, likewise, benefits and/or drawbacks from HRT have not been thoroughly evaluated. Since the risk of cardiovascular and endocrinological disease is clearly elevated, proper care during adulthood is emphasized. In summary, Turner syndrome is a condition associated with a number of diseases and conditions which are reviewed in the present paper.

  14. 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

  15. Deletions of Yq11 associated with short stature and the Turner syndrome. Tentative mapping of a region associated with specific Turner stigmata to proximal interval 5.

    Energy Technology Data Exchange (ETDEWEB)

    McElreavey, K.; Barbaux, S.; Vilain, E. [Immunogenetique Humaine 25 rue du Dr. Roux, Paris (France)] [and others

    1994-09-01

    Turner syndrome is a complex human phenotype, commonly associated with a 45,X karyotype. Mapping the Turner phenotype is difficult since hidden mosaicisms, partial monosomy and complex rearrangements are present in many affected individuals. In addition, attempts to map the genes involved to the X chromosome have failed to yield a consistent localisation. An alternative approach to map and identify Turner genes is to study XY individuals, with sex chromosome abnormalities, who present with or without characteristic Turner stigmata. We report the analysis of 4 individuals with terminal deletions of Yq. The individuals were azoospermic males without phenotypic abnormalities (2 cases) and azoospermic males presenting with a specific subset of Turner stigmata (2 cases). Breakpoints in each of the cytogenetically detectable Yq deletions were mapped by Southern analysis and Y chromosome-specific sequence tagged sites (STS). Correlation between the patients phenotypes and the extent of their deletion indicate a critical region associated with specific Turner stigmata (cubitus valgus, shield chest, short fourth metacarpals) and growth retardation at Yq at proximal interval 5. These data provide evidence that the somatic features of the Turner syndrome are most likely caused by haploinsufficiency of genes at several loci.

  16. Síndrome de Parsonage-Turner em paciente HIV positivo Parsonage-Turner syndrome in HIV seropositive patient

    Directory of Open Access Journals (Sweden)

    Acir Rachid

    2005-02-01

    Full Text Available A síndrome de Parsonage-Turner é uma desordem rara de etiologia ainda indeterminada, contudo com fortes evidências de associação a infecções virais inclusive pelo vírus HIV, que afeta a cintura escapular e desencadeia dor e fraqueza da musculatura do ombro e da extremidade superior. O diagnóstico raramente é feito no início do quadro e poucos exames laboratoriais podem ser úteis, com destaque para a eletroneuromiografia. Seu tratamento é basicamente observacional e de controle dos sintomas e a recuperação é esperada na maioria dos pacientes. Por se tratar de uma enfermidade rara e de difícil diagnóstico clínico, os autores relatam o caso de um paciente com quadro clínico laboratorial compatível com a síndrome de Parsonage-Turner associada à soropositividade ao vírus da imunodeficiência adquirida.Parsonage-Turner syndrome is a rare disorder of unknown etiology, nevertheless with high evidences of association with viral infections, including HIV, which affects the shoulder girdle and unleash pain and weakness of the shoulder and upper extremity. The diagnosis is rarely made in acute setting and few diagnostic tests are helpful, except for electroneuromyography. The treatment is basically supportive and full recovery is expected in most patients. For being a rare ailment allied with difficult diagnosis, the authors report a case of a patient with clinical and laboratorial findings of Parsonage-Turner syndrome associated with acquired immunodeficiency virus seropositivity.

  17. William James Sidis, The Broken Twig

    Science.gov (United States)

    Montour, Kathleen

    1977-01-01

    By presenting cases of prodigies who entered college as early as William James Bidis but who succeeded, this paper attempts to dissuade the public from its opposition to educational acceleration for precocious children, to which the "Sidis fallacy" has helped give rise. (Author)

  18. James Baldwin: Voyages in Search of Love

    Directory of Open Access Journals (Sweden)

    David Leeming

    2015-09-01

    Full Text Available From the time of his early adolescence until his death, traveling was one of, if not the, driving force of James Baldwin’s life. He traveled to escape, he travelled to discover, and he traveled because traveling was a way of knowing himself, of realizing his vocation.

  19. Senator James Eastland : Mississippi's Jim Crow Democrat

    NARCIS (Netherlands)

    Zwiers, Maarten

    2015-01-01

    In the years following World War II, the national Democratic Party aligned its agenda more and more with the goals of the civil rights movement. By contrast, a majority of southern Democrats remained as committed as ever to a longstanding segregationist ideology. Through the career of Senator James

  20. A Reflective Conversation with James H. Borland

    Science.gov (United States)

    Shaughnessy, Michael F.; Moore, Tammy-Lynne; Borland, James H.

    2014-01-01

    James H. Borland, Ph.D. is Professor of Education in the Department of Curriculum and Teaching at Teachers College, Columbia University in New York City. In this reflective conversation, he reflects on his experiences in an urban environment and the current challenges in gifted education. He argues for ongoing diagnosis of learners' needs without…

  1. The 14th Annual James L. Waters Symposium at Pittcon: Raman Spectroscopy

    Science.gov (United States)

    Gardner, Charles W.

    2007-01-01

    Raman Spectroscopy was the main topic of the 14th Annual James L. Waters Symposium, which was held in March 2003 at Pittcon. The development of the enabling technologies that have made Raman spectroscopy a routine analysis tool in many laboratories worldwide is discussed.

  2. Interview of James S. Arthurs, EX-President of Gerber Technotogy

    Institute of Scientific and Technical Information of China (English)

    Wang Ting

    2011-01-01

    In January, 2011, Gerber Technology, a business unit of Gerber Scientific, Inc., announced the planned retirement of James Arthurs, a 31-year veteran of the company best known for leading the company's foray into international apparel and industrial markets and solidifying Gerber's leadership position in the Asia-Pacific region.

  3. Decades of CALL Development: A Retrospective of the Work of James Pusack and Sue Otto

    Science.gov (United States)

    Otto, Sue E. K.

    2010-01-01

    In this article, the author describes a series of projects that James Pusack and the author engaged in together, a number of them to develop CALL authoring tools. With their shared love of technology and dedication to language teaching and learning, they embarked on a long and immensely enjoyable career in CALL during which each project evolved…

  4. The Darwinian Center to the Vision of William James.

    Science.gov (United States)

    Bredo, Eric

    The essence of William James's vision can sometimes be hard to discover due to emotional volatility and exploratory impulsiveness. On the other hand, beneath James's apparent inconsistency was a constancy of purpose that can be easily underestimated. This paper argues that the center of James's vision lay in an interpretation of Darwinism. By…

  5. Delayed beta-cell response and glucose intolerance in young women with Turner syndrome

    DEFF Research Database (Denmark)

    Hjerrild, Britta E; Holst, Jens Juul; Juhl, Claus B

    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...

  6. 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…

  7. 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…

  8. 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

    1999-01-01

    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, ly

  9. 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.

  10. 75 FR 38809 - Southern Turner Cimarron I, LLC; Notice of Filing

    Science.gov (United States)

    2010-07-06

    ... From the Federal Register Online via the Government Publishing Office DEPARTMENT OF ENERGY Federal Energy Regulatory Commission Southern Turner Cimarron I, LLC; Notice of Filing June 25, 2010. Take notice that on June 24, 2010, Southern Turner Cimarron I, LLC filed a supplement confirming passive...

  11. 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.

  12. 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. PMID:28228961

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

    Directory of Open Access Journals (Sweden)

    Evan Los

    2017-01-01

    Full Text Available 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.

  14. 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.

  15. 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....

  16. 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....

  17. Bone Fragility in Turner Syndrome: Mechanisms and Prevention Strategies.

    Science.gov (United States)

    Faienza, Maria Felicia; Ventura, Annamaria; Colucci, Silvia; Cavallo, Luciano; Grano, Maria; Brunetti, Giacomina

    2016-01-01

    Bone fragility is recognized as one of the major comorbidities in Turner syndrome (TS). The mechanisms underlying bone impairment in affected patients are not clearly elucidated, but estrogen deficiency and X-chromosomal abnormalities represent important factors. Moreover, although many girls with TS undergo recombinant growth hormone therapy to treat short stature, the efficacy of this treatment on bone mineral density is controversial. The present review will focus on bone fragility in subjects with TS, providing an overview on the pathogenic mechanisms and some prevention strategies.

  18. 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.

  19. BONE FRAGILITY IN TURNER SYNDROME: MECHANISMS AND PREVENTION STRATEGIES

    Directory of Open Access Journals (Sweden)

    Maria Felicia Faienza

    2016-04-01

    Full Text Available Bone fragility is recognized as one of major comorbidities in Turner Syndrome (TS. The mechanisms underlying bone impairment in affected patients are not clearly elucidated, but estrogen deficiency and X-chromosomal abnormalities represent important factors. Moreover, although many girls with TS undergo recombinant growth hormone (rGH therapy to treat short stature, the efficacy of this treatment on BMD is controversial. The present review will focus on bone fragility in subjects with TS, providing an overview on the pathogenic mechanisms and some prevention strategies.

  20. [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.

  1. Montague Rhodes James, Collected Ghost Stories

    OpenAIRE

    Mantrant, Sophie

    2014-01-01

    A biblical scholar, palaeographer and lover of old manuscripts, Montague Rhodes James (1862–1936) published a great many scholarly works, but he is best remembered for his ghost stories, many of which were originally read aloud to friends. One of their distinguishing features is the richness of their antiquarian background and they are usually considered as among the finest achievements in what is sometimes labelled the ‘antiquarian subgenre’ of the ghost story. In his ‘Supernatural Horror in...

  2. 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

  3. [Klinefelter's syndrome and Turner's syndrome. For a better management].

    Science.gov (United States)

    Pienkowski, C; Cartault, A; Caula-Legriel, S; Ajaltouni, Z; Daudin, M; Tauber, M

    2011-09-01

    Klinefelter's syndrome (KS) affects one in 600 men and Turner's syndrome (TS), one in 2500 women. These 2 diseases are the most sex chromosome disorders characterized by one extra X in the SK male (47XXY) and the loss of an X in the girls with ST (45 X). Their common characteristic is the gonadal dysgenesis, which is the main cause of male or female infertility. Called "the forgotten syndrome", KS is under-diagnosed because apart from the large size, there are no dysmorphic features, along with a great ignorance of cognitive and language disorders in children. There are often comorbidities that lead to diagnosis such as autoimmune diseases or metabolic syndrome. TS is often diagnosed by the short stature. Management of Turner's girls has profoundly changed with Growth hormone therapy. There is an international consensus for a better management of associated diseases such as ORL, cardiac, renal, hepatic, autoimmune and metabolic diseases. Prenatal diagnosis allows early detection and management of cognitive deficiencies and of associated diseases.

  4. Growth hormone therapy and bone mineral density in Turner syndrome.

    Science.gov (United States)

    Bakalov, Vladimir K; Van, Phillip L; Baron, Jeffrey; Reynolds, James C; Bondy, Carolyn A

    2004-10-01

    In a previous report, preliminary data showed a significant reduction in cortical bone mineral density (BMD) in women with Turner syndrome that had been treated with GH compared with women with Turner syndrome that had not been treated. To clarify this point, we have investigated the effects of GH treatment at multiple sites in this case-control, cross-sectional study. There were 23 women per group, who were similar in age, height, body mass index, estrogen use, and ethnic makeup. Median age (range) at start and duration of GH treatment was 9 (3-17) and 5 (2-9) yr, respectively. GH-treated women had a slightly greater ( approximately 8%, P = 0.03) width of the radial shaft, but otherwise there were no significant differences between groups in bone dimensions or BMD at the distal radius, lumbar spine, or femoral neck. Furthermore, regression analysis in a linear model including independent variables of age, age at diagnosis, body mass index, presence of spontaneous puberty, and GH use confirmed that GH use did not contribute to variation in BMD.

  5. 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.

  6. Widespread DNA hypomethylation and differential gene expression in Turner syndrome

    Science.gov (United States)

    Trolle, Christian; Nielsen, Morten Muhlig; Skakkebæk, Anne; Lamy, Philippe; Vang, Søren; Hedegaard, Jakob; Nordentoft, Iver; Ørntoft, Torben Falck; Pedersen, Jakob Skou; Gravholt, Claus Højbjerg

    2016-01-01

    Adults with 45,X monosomy (Turner syndrome) reflect a surviving minority since more than 99% of fetuses with 45,X monosomy die in utero. In adulthood 45,X monosomy is associated with increased morbidity and mortality, although strikingly heterogeneous with some individuals left untouched while others suffer from cardiovascular disease, autoimmune disease and infertility. The present study investigates the leukocyte DNAmethylation profile by using the 450K-Illumina Infinium assay and the leukocyte RNA-expression profile in 45,X monosomy compared with karyotypically normal female and male controls. We present results illustrating that genome wide X-chromosome RNA-expression profile, autosomal DNA-methylation profile, and the X-chromosome methylation profile clearly distinguish Turner syndrome from controls. Our results reveal genome wide hypomethylation with most differentially methylated positions showing a medium level of methylation. Contrary to previous studies, applying a single loci specific analysis at well-defined DNA loci, our results indicate that the hypomethylation extend to repetitive elements. We describe novel candidate genes that could be involved in comorbidity in TS and explain congenital urinary malformations (PRKX), premature ovarian failure (KDM6A), and aortic aneurysm formation (ZFYVE9 and TIMP1). PMID:27687697

  7. 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.

  8. Rare association of turner syndrome with neurofibromatosis type 1 and tuberous sclerosis complex

    Directory of Open Access Journals (Sweden)

    Suttur Malini

    2009-01-01

    Full Text Available We report a rare association of Turner syndrome with both Neurofibromatosis type I and Tuberous Sclerosis. The patient had XO karyotype with Turners stigmata and also had features of Neurofibromatosis 1 in the form of significant cafe-au-lait spots and Plexiform neurofibroma along with typical features of Tuberous Sclerosis complex. Pedigree analysis revealed that the elder brother of the proband in the family also suffered from Tuberous Sclerosis without the manifestation of Neurofibromatosis or any other genetic disorders. We hypothesize that these associations could be due to new independent mutations and also increased maternal and paternal age in a pre-disposition of Turner syndrome.

  9. Turner 综合征57例病例报告分析

    Institute of Scientific and Technical Information of China (English)

    张振华; 赵绍漓

    2014-01-01

    我们医院开张外周血核型分析已经将近六年,做过的核型分析有三千多例,疑似 turner 综合征的有3百二十例,最终检测确定是 turner 综合征的有57例,另有三例未能确定。现就确定 turner 综合征的57例病例进行分析。

  10. U. S. groups fight James Bay II

    Energy Technology Data Exchange (ETDEWEB)

    This article reviews the opposition program to the James Bay II hydroelectric project. The environmental costs of the first phase of James Bay, the La Grande project, have been huge, resulting in massive alterations of the environment and causing widespread mercury poisoning of fish, loss of wetlands and disruption of caribou calving grounds. Start-up of the Great Whale project is imminent, and will result in the flooding of ca 5,000 square kilometers of wilderness. The environmental costs of phases 2 and 3 will be even larger than for the first phase, with potential for significant disruption of fresh-water input into James and Hudson Bays. Drastic changes in the volume and salinity of the water will jeopardize the life patterns of many migratory birds, polar bears, beluga wales, seals and other wildlife. These, along with other social costs, are prohibitive for the Cree. The Cree have been actively opposing the project in the United States, and a groundswell of American opposition has been building. The Cree have been successful in persuading Bangor, Maine, to cancel a proposed contract with Hydro Quebec, on economic grounds. Opposition is building in Burlington, Vermont, to a contract with Hydro Quebec for the planned purchase of 15 MW of power from Hydro Quebec. Secret contracts between Hydro Quebec and thirteen multinational aluminum corporations, to supply power at below cost, have been publicized. The signing of an energy contract between New York and Quebec has been delayed for one year due to the inability of Hydro Quebec to make progress on the project in the face of opposition at home.

  11. O modelo keynesiano de James Meade

    Directory of Open Access Journals (Sweden)

    Claudia Heller

    2013-05-01

    Full Text Available Este artigo reavalia o “modelo simplificado” da Teoria Geral de Keynes elaborado por James Meade e procura complementar alguns dos argumentos teóricos que Meade deixou apenas indicados. O artigo também responde às solicitações de Frisch a Meade, quanto à explicação do significado de estabilidade e à explicitação dos pressupostos que garantem suas conclusões. Além disso, apresenta alguns dos cálculos não desenvolvidos por Meade, e, quando necessário, suas devidas correções.

  12. 大师之选 James Halliday

    Institute of Scientific and Technical Information of China (English)

    Lillian; Miles

    2012-01-01

    <正>最新推荐Top100业已成为葡萄酒界最通行的一种评选模式,一些国际的"百大"甚至直接掌握佳葡萄酒销售的风向标。澳大利亚第一酒评人James Halliday 2011年度"百大"葡萄酒陆续进入中国市场,让我们找来尝尝!

  13. William James' The Varieties of Religious Experience revisited.

    Science.gov (United States)

    Hart, Curtis W

    2008-12-01

    This essay addresses the familial, religious, and cultural context for the writing and presentation of William James' classic work The Varieties of Religious Experience. The essay emphasizes the importance of the impact of Henry James, Senior, upon his son. This relationship along with a severe cardiac condition contributed to James' taking on and carrying through with his exploration of religious experience. The article explores The Varieties and concludes with a discussion of the importance of James' use of narrative to the study of mind-body medicine. This paper was originally presented at the Richardson Research Seminar in the History of Psychiatry at Weill Cornell Medical College.

  14. 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"

  15. 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"

  16. 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

  17. James Henry Greathead and the London Underground

    Directory of Open Access Journals (Sweden)

    Laurence Wright

    2017-01-01

    Full Text Available This article investigates the origins and early history of the device known as the ‘Greathead Shield’, an important innovation in Victorian engineering crucial to constructing the London Underground. The aim is to explore the basis on which, many years later, a South African engineer, James Henry Greathead, was accorded prominent public acknowledgment, in the form of a statue, for ‘inventing’ the Shield. From a cultural studies perspective, how is the meaning of ‘invention’ to be understood, given that several other brilliant engineers were involved? The question is adjudicated using the notion of cultural ‘extelligence’, seen in relation to several contemporary and historical accounts, including Greathead’s own record of his achievements in the proceedings of the Institution of Civil Engineers and presented in The City and South London Railway (1896, edited by James Forrest. The paper was first delivered at the conference on ‘Novelty and Innovation in the Nineteenth Century’ held at the North-West University in May 2016.

  18. Continuous measurement of aortic dimensions in Turner syndrome

    DEFF Research Database (Denmark)

    Subramaniam, Dhananjay Radhakrishnan; Stoddard, William A; Mortensen, Kristian H

    2017-01-01

    method was then compared with corresponding manual measurements at 7 discrete locations for each visit and for changes between visits. RESULTS: Manual measures at the seven positions and the corresponding continuous measurements of maximum diameter for all visits considered, correlated highly (R-value...... methodology is presented that enables rapid and precise three-dimensional measurement of thoracic aortic geometry, which can serve as an improved tool to define disease severity and monitor disease progression. TRIAL REGISTRATION: ClinicalTrials.gov Identifier - NCT01678274 . Registered - 08.30.2012.......BACKGROUND: Severity of thoracic aortic disease in Turner syndrome (TS) patients is currently described through measures of aorta size and geometry at discrete locations. The objective of this study is to develop an improved measurement tool that quantifies changes in size and geometry over time...

  19. [Bilateral diaphragmatic paralysis due to Parsonage-Turner syndrome].

    Science.gov (United States)

    Tissier-Ducamp, D; Martinez, S; Alagha, K; Charpin, D; Chanez, P; Palot, A

    2015-09-01

    We report the case of a 49-years-old patient who presented to the accident and emergency department with sudden onset dyspnea associated with acute shoulder pain. He was breathless at rest with supine hypoxemia. He had an amyotrophic left shoulder with localized paresis of the shoulder. Both hemi-diaphragms were elevated on chest X-rays. Pulmonary function tests showed a restrictive pattern and both phrenic nerve conduction velocities were decreased. At night, alveolar hypoventilation was evidenced by elevated mean capnography (PtcCO2: 57mmHg). Neuralgic amyotrophy, Parsonage-Turner syndrome was the final diagnosis. This syndrome is a brachial plexus neuritis with a predilection for the suprascapular and axillary nerves. Phrenic nerve involvement is rare but where present can be the most prominent clinical feature as in our case report.

  20. Rub epilepsy in an infant with Turner syndrome.

    Science.gov (United States)

    Magara, Shin-Ichi; Kawashima, Hideshi; Kobayashi, Yu; Akasaka, Noriyuki; Yamazaki, Sawako; Tohyama, Jun

    2015-08-01

    We report a case of infantile refractory epilepsy associated with Turner syndrome (TS), showing very frequent, focal clonic seizures of the left upper extremity. Characteristically, in addition to spontaneous fits, her seizure was inducible by rubbing her left hand and forearm for a few seconds. Accordingly, she was diagnosed with a rare form of reflex epilepsy, "rub epilepsy". Neuroradiological investigation indicated the existence of cortical abnormalities, such as focal cortical dysplasia of the right parietal lobe. Patients with TS are reported to have neuroanatomical abnormalities, especially of the parietal lobe. Thus, our case may imply a causal relationship between potential cortical hyperexcitability of the parietal lobe and epilepsy in TS. This is the first reported infantile case of rub epilepsy, and more generally, reflex epilepsy associated with TS.

  1. [Parsonage-Turner syndrome in childhood and adolescence: case report].

    Science.gov (United States)

    Pérez-de la Cruza, Sagrario

    2012-10-01

    We present the case of a 17-year-old male whose diagnosis is Parsonage-Turner syndrome relapsing in the right arm. In his medical record, he was diagnosed as having amyotrophic neuralgia of the upper limb in three previous occasions. The diagnosis was similar in all episodes, although the affected upper limb was alternating. He was treated in the Rehabilitation Services of two hospitals. At physical examination, in every relapse, he showed acute pain in both, shoulder and arm, and loss of strength in the shoulder blade and the affected upper limb. The aim of his treatment combines the healing of the pain and, together with physiotherapy, fighting against muscular atrophy. The patient evolved favourably in each of the episodes. Nowadays, he does not show any symptom, and he has been discharged from the rehabilitation service.

  2. Recombinant human growth hormone in the treatment of Turner syndrome

    Directory of Open Access Journals (Sweden)

    Bessie E Spiliotis

    2008-12-01

    Full Text Available Bessie E SpiliotisDivision of Pediatric Endocrinology and Diabetes, Department of Pediatrics, University of Patras, School of Medicine, Patras, GreeceAbstract: Turner syndrome (TS is a common chromosomal disorder in women that is associated with the absence of one of the X chromosomes. Severe short stature and a lack of pubertal development characterize TS girls, causing psychosocial problems and reduced bone mass. The growth impairment in TS seems to be due to multiple factors including an abnormal growth hormone (GH – insulin-like growth factor (IGF – IGF binding protein axis and haploinsufficiency of the short stature homeobox-containing gene. Growth hormone and sex steroid replacement therapy has enhanced growth, pubertal development, bone mass, and the quality of life of TS girls. Recombinant human GH (hGH has improved the height potential of TS girls with varied results though, depending upon the dose of hGH and the age of induction of puberty. The best final adult height and peak bone mass achievement results seem to be achieved when hGH therapy is started early and puberty is induced at the normal age of puberty in a regimen mimicking physiologic puberty. The initiation of estradiol therapy at an age-appropriate time may also help the TS patients avoid osteoporosis during adulthood. Recombinant hGH therapy in TS seems to be safe. Studies so far show no adverse effects on cardiac function, glucose metabolism or any association with neoplasms but research is still in progress to provide conclusive data on long-term safety.Keywords: Turner syndrome, recombinant growth hormone, growth hormone deficiency, SHOX gene, hormonal replacement therapy

  3. Parsonage-Turner syndrome following post-exposure prophylaxis

    Science.gov (United States)

    2014-01-01

    Background The ‘Parsonage-Turner syndrome’ (PTS) is a rare but distinct disorder with an abrupt onset of shoulder pain, followed by weakness and atrophy of the upper extremity musculature, and a slow recovery requiring months to years. To our best knowledge, this is the first case describing symptoms and signs of PTS following the administration of a post-exposure prophylaxis (PEP) regimen against possible human immunodeficiency virus (HIV) and hepatitis B virus (HBV) infection. Case presentation A 25-year-old Caucasian man presented with pain and unilateral scapular winging following PEP against possible HIV and HBV infection. Although atrophy and weakness were observed for the right supraspinatus muscle, a full range of motion was achievable. Neurological examination, plain radiography of the right shoulder and electromyography showed no additional abnormalities. The patient was diagnosed with post-vaccination PTS and treated non-operatively. During the following 15 months the scapular winging receded and full muscle strength was regained. Conclusion Parsonage-Turner syndrome is a rare clinical diagnosis. The precise pathophysiological mechanism of PTS remains unclear, but it seems to involve an interaction between genetic predisposition, mechanical vulnerability and an autoimmune trigger. An immunological event, such as – in this case – a vaccination as part of PEP treatment, can trigger the onset of PTS. The clinical presentation is distinctive with acute severe pain followed by patchy paresis, atrophy and sensory symptoms that persist for months to years. No currently available tests can provide a definite confirmation or exclusion of PTS. Routine blood examination, electromyography (EMG), and computed tomography (CT) or magnetic resonance imaging (MRI) serve mainly to exclude other disorders. The recovery can be quite lengthy, non-operative treatment is the accepted practice. Supplementary administration of oral prednisolone could shorten the

  4. 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.)

  5. A comparison of affective information processing in Noonan and Turner syndromes: Evidence of alexithymia

    NARCIS (Netherlands)

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

    2014-01-01

    Objective: Noonan (NS) and Turner syndrome (TS) are associated with cognitive problems and difficulties in affective information processing. While both phenotypes share physical features, genetic etiology and neuropsychological phenotype differ significantly. The present study examines putative

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

    NARCIS (Netherlands)

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

    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

  7. [Chronic type A aortic dissection associated with Turner syndrome; report of a case].

    Science.gov (United States)

    Tanaka, Hideyuki; Kozaki, Tomofumi; Kume, Masazumi; Miyamoto, Shinji

    2014-12-01

    Aortic dissection is a critical but rare complication of Turner syndrome. This report describes a case of chronic aortic dissection in a patient with Turner syndrome. A 54-year-old woman, suffering from mild back pain for 1 month, was referred to our hospital with a diagnosis of Stanford type A chronic aortic dissection and a bicuspid aortic valve with moderate regurgitation. Computed tomography revealed aortic dissection, involving all arch branches, extending from the ascending to the abdominal aorta. The true lumen of the brachial artery was nearly obstructed by the thrombosed false lumen. Elective aortic arch repair and aortic valve replacement were successfully performed. The patient was diagnosed with 45, XO Turner syndrome after surgery. Taking aortopathy of Turner syndrome into consideration, surveillance of the residual aorta was performed. No rapidly progressive dilatation of the residual aorta was detected during the 6 years' follow-up.

  8. Evaluating the biomechanics of the pediatric foot in Turner syndrome: a case report.

    Science.gov (United States)

    Morrison, Stewart C; Izod, Alexander; Mahaffey, Ryan

    2012-01-01

    Turner syndrome is a genetic disorder that can present clinically with multiple concurrent comorbidities. This case report describes a 12-year-old girl with Turner syndrome who was referred for podiatric medical assessment and explores the application of optoelectronic stereophotogrammetry in the biomechanical assessment of the foot and lower limb. A four-segment kinematic foot model using 14-mm reflective markers was applied to the foot and lower limb of the patient to track motion at the tibia, rearfoot, forefoot, and hallux. Kinematic results presented in this case study illustrate evidence of excessive foot pronation throughout the stance phase of gait. Whether excessive pronation is a general characteristic of foot function in Turner syndrome remains to be confirmed, but the findings presented suggest that a comprehensive evaluation of foot biomechanics in patients with Turner syndrome may be warranted.

  9. Mixed gonadal dysgenesis in 45,X Turner syndrome with SRY gene.

    Science.gov (United States)

    Jung, Jae Yeop; Yang, Sohyoung; Jeong, Eun-Hwan; Lee, Ho-Chang; Lee, Yong-Moon; Han, Heon-Seok; Yi, Kyung Hee

    2015-12-01

    Turner syndrome is the most common chromosomal disorder in girls. Various phenotypic features show depending upon karyotype from normal female through ambiguous genitalia to male. Usually, Turner girls containing 45,X/46,XY mosaicism, or sex-determining region Y (SRY) gene may have mixed gonadal dysgenesis with various external sexual differentiation. We experienced a short statured 45,X Turner girl with normal external genitalia. Because SRY gene was positive, laparoscopic gonadectomy was performed. The dysgenetic gonads revealed bilateral ovotesticular tissues. The authors report a mixed gonadal dysgenesis case found in clinical 45,X Turner patient with positive SRY gene. Screening for SRY gene should be done even the karyotype is 45,X monosomy and external genitalia is normal.

  10. Rare association between two genetic conditions: turner syndrome and beta thalassemia minor

    OpenAIRE

    Dorina STOICANESCU; Mariana CEVEI; Valerica BELENGEANU; Monica STOIAN; Alina BELENGEANU

    2009-01-01

    Rare disorders are defined as diseases, including those of genetic origin, which are life-threatening or chronically debilitating, which are of such low prevalence that special combined efforts are needed to address them. We present a case with a rare association between two genetic conditions: Turner phenotype and beta thalassemia minor. Turner syndrome is a chromosomal disorder that is characterized by the absence of all or part of a second sex chromosome in some or all cells. This conditio...

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

    DEFF Research Database (Denmark)

    Gravholt, Claus Højbjerg; Poulsen, Henrik Enghusen; 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....

  12. A Case of Ullrich-Turner Syndrome with 45,X/46,XY Karyotype

    OpenAIRE

    Yüce, Hüseyin; AKIN, Haluk; ETEM, Ebru; DEVECİ, Şükriye DERYA

    2004-01-01

    The presence of mosaic 45,X/46,XY is a very rare chromosomal anomaly, with an incidence of about 1.5 per 10.000 in newborn infants and in midtrimester amniocentesis. The phenotype can vary from a normal male to a classical Ullrich-Turner syndrome (UTS). This patients are often infertile. The proposita presented at short stature, primary amenorrhea and hypoplasic uterus. Clinical examination revealed multiple Turner syndrome stigmata. Proposita karyotype was determined as 45,X/46,XY by cytogen...

  13. Síndrome de Turner: el riesgo de tumores gonadales en pacientes con secuencias del cromosoma Y Turner Syndrome: Gonadal Tumor Risk in Patients with Y Chromosome Sequences

    Directory of Open Access Journals (Sweden)

    SB Copelli

    2012-12-01

    Full Text Available En esta revisión, se muestra que la existencia de secuencias del cromosoma Y en las mujeres con síndrome de Turner es un factor de riesgo para el desarrollo de gonadoblastoma, sobre todo si está presente en el cariotipo de las pacientes en forma de mosaico y/o como secuencias del Y ocultas. En la literatura, se han encontrado en los estudios epidemiológicos de cáncer, resultados controversiales en los casos que presentan gonadoblastoma u otros tumores malignos de ovario, en el síndrome de Turner. Algunas mujeres tienen Y pero no desarrollan tumores gonadales. En una población argentina de 282 mujeres con síndrome de Turner se evaluó la presencia de material del cromosoma Y en mosaico por PCR y en 8 de estos pacientes (2,83 % con secuencias del Y, se halló gonadoblastoma luego de extirpar la gónada. En la literatura, la frecuencia de material "escondido" de cromosoma Y (en mosaico es alta en el síndrome de Turner, pero la aparición de gonadoblastoma entre los pacientes con estas secuencias parece ser baja. Las secuencias del gen SRY solo pueden estudiarse como un marcador de mosaicismo, en pacientes con síndrome de Turner, porque el locus para gonadoblastoma/disgerminoma, probablemente se encuentra cerca del centrómero del Y lejos de SRY. Publicaciones recientes, sugieren que la evaluación del riesgo real de desarrollo de tumores gonadales en pacientes con ST con secuencias derivadas del Y, en su constitución cromosómica puede requerir un estudio histopatológico específico, tal como la inmunohistoquímica con OCT4. Por lo tanto, es evidente que la exéresis de las gónadas sigue siendo una herramienta importante para la prevención en pacientes con síndrome de Turner, con sospecha de cromosoma Y ¨escondido¨ o en mosaico, hasta que sea posible aislar los genes implicados en el gonadoblastoma. La autora declara no poseer conflictos de interés.In this review, we show that the existence of Y chromosome sequences in women with

  14. Ear health and hearing surveillance in girls and women with Turner's syndrome: recommendations from the Turner's Syndrome Support Society.

    Science.gov (United States)

    Kubba, H; Smyth, A; Wong, S C; Mason, A

    2017-06-01

    Turner's syndrome (TS) is a common chromosomal disorder, affecting one in 2000 newborn girls, in which part or all of one X chromosome is missing. Ear and hearing problems are very common in girls and women with TS. The aim of this review was to review the published literature to suggest recommendations for otological health surveillance. A keyword search of Ovid Medline was performed for published literature on the subject and evidence rated according to the GRADE criteria. Middle ear disorders are very common and persistent in girls and women with TS as are progressive sensorineural hearing loss and balance disorders. Otolaryngologists should be aware of the high prevalence and challenging nature of all forms of ear disease in individuals with TS. Early intervention may offer benefits to health and education, and we advocate routine lifelong annual hearing screening in this group. © 2016 John Wiley & Sons Ltd.

  15. 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.

  16. 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.

  17. Metacognition and Self-Regulation in James, Piaget, and Vygotsky

    Science.gov (United States)

    Fox, Emily; Riconscente, Michelle

    2008-01-01

    This article investigates the intertwined constructs of metacognition and self-regulation as they emerge in the works and theories of James, Piaget, and Vygotsky. To coordinate this exploration, we use an interpretive framework based on the relation of subject and object. In this framework, James's perspective on metacognition and self-regulation…

  18. Sharing Good Stories: The Work of James Stevenson.

    Science.gov (United States)

    Brodie, Carolyn S.

    1999-01-01

    Highlights the career and work of James Stevenson, author and illustrator of children's books. Presents suggestions for extension activities. Includes a selected annotated bibliography of his picture books, titles from some of his series, autobiographical picture books, illustrations, poetry, and fiction, as well as books about James Stevenson.…

  19. Fate of James Webb Space Telescope murky

    Science.gov (United States)

    Showstack, Randy

    2011-07-01

    The James Webb Space Telescope (JWST), the next-generation successor to the Hubble Space Telescope, was put on the chopping block by the U.S. House of Representatives Appropriations Subcommittee on Commerce, Justice, Science, and Related Agencies. The subcommittee approved a measure on 7 July that “terminates funding for [JWST], which is billions of dollars over budget and plagued by poor management.” Then, on 13 July, Rep. Adam Schiff (D-Calif.), whose district includes NASA's Jet Propulsion Laboratory, tried to insert a funding amendment—transferring $200 million from NASA's Cross-Agency Support budget to JWST—when the full House Committee on Appropriations voted. That amendment failed in a voice vote.

  20. 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.

  1. Michel Draguet, James Ensor ou la fantasmagorie

    OpenAIRE

    Aron, Paul

    2013-01-01

    Écrivain et peintre, peintre commenté par des écrivains (Demolder, Verhaeren...), James Ensor est, à maints égards, un artiste particulièrement représentatif des relations étroites que le pinceau et la plume ont toujours entretenues en Belgique. Le très bel essai que lui consacre Michel Draguet ajoute une pièce majeure au dossier : entre autres analyses particulièrement bien informées et pertinentes, il décrit par le menu les aspects littéraires de son œuvre picturale. Au départ, un rêve : ce...

  2. Impaired endothelial function in pediatric patients with turner syndrome and healthy controls: a case-control study

    Directory of Open Access Journals (Sweden)

    O'Gorman Clodagh S

    2012-04-01

    Full Text Available Abstract Background Turner Syndrome women are at high risk of vascular disease and the assessment of early risk factors in Turner Syndrome girls is an emerging focus of research. Our objective was to evaluate endothelial function (EF, a preclinical measure of atherosclerosis, in Turner Syndrome girls compared with controls. Methods A cross-sectional case-control study of Turner Syndrome girls and healthy controls. Subjects underwent fasting insulin and glucose with calculation of HOMA-IR, fasting lipid profile, anthropometrics, and EF testing using peripheral arterial tonometry (PAT. Subjects, aged 10-18 years, had karyotype-confirmed Turner Syndrome; growth hormone (GH, thyroxine and estrogen use were not exclusion criteria. Controls were age- and BMI-matched healthy girls. Fifteen Turner Syndrome and 15 controls were recruited. Results Turner Syndrome girls had lower height, higher HDL and higher waist:height ratio than controls. PAT-hyperemia ratio (RH-PAT scores were lower in Turner Syndrome (1.64 ± 0.34 vs. 2.08 ± 0.32, p = 0.002 indicating impaired EF. Among Turner Syndrome, RH-PAT did not vary with estrogen therapy or with karyotype 45,XO compared with other karyotypes. However, endothelial function was better in GH-treated compared with GH-untreated Turner Syndrome (1.80 ± 0.36 vs. 1.4 + 0.22, p = 0.02 although there were no differences in HOMA-IR, adiponectin or IGF-1. Conclusion Girls with Turner Syndrome exhibit impaired endothelial function compared with controls, which may explain higher risk for vascular disease. GH may protect endothelial function in Turner Syndrome.

  3. Modelling of active layer thickness evolution on James Ross Island in 2006-2015

    Science.gov (United States)

    Hrbáček, Filip; Uxa, Tomáš

    2017-04-01

    Antarctic Peninsula region has been considered as one of the most rapidly warming areas on the Earth. However, the recent studies (Turner et al., 2016; Oliva et al., 2017) showed that significant air temperature cooling began around 2000 and has continued until present days. The climate cooling led to reduction of active layer thickness in several parts of Antarctic Peninsula region during decade 2006-2015, but the information about spatiotemporal variability of active layer thickness across the region remains largely incoherent due to lack of active layer temperature data from deeper profiles. Valuable insights into active layer thickness evolution in Antarctic Peninsula region can be, however, provided by thermal modelling techniques. These have been widely used to study the active layer dynamics in different regions of Arctic since 1990s. By contrast, they have been employed much less in Antarctica. In this study, we present our first results from two equilibrium models, the Stefan and Kudryavtsev equations, that were applied to calculate the annual active layer thickness based on ground temperature data from depth of 5 cm on one site on James Ross Island, Eastern Antarctic Peninsula, in period 2006/07 to 2014/15. Study site (Abernethy Flats) is located in the central part of the major ice-free area of James Ross Island called Ulu Peninsula. Monitoring of air temperature 2 m above ground surface and ground temperature in 50 cm profile began on January 2006. The profile was extended under the permafrost table down to 75 cm in February 2012, which allowed precise determination of active layer thickness, defined as a depth of 0°C isotherm, in period 2012 to 2015. The active layer thickness in the entire observation period was reconstructed using the Stefan and Kudryavtsev models, which were driven by ground temperature data from depth of 5 cm and physical parameters of the ground obtained by laboratory analyses (moisture content and bulk density) and calculations

  4. A Rare Karyotype of Turner Syndrome: 45.X/47.XXX

    Directory of Open Access Journals (Sweden)

    Ayça Altıncık

    2014-04-01

    Full Text Available Turner syndrome (TS is a chromosomal disorder, which mostly results from a 45.XO karyotype and is characterized with short stature, gonadal dysgenesis, renal and cardiac abnormalities. The probability of spontaneous menarche in TS is 10%, while the probability of fertility is too low. The frequency of 45.X/47,XXX mosaicism in TS has been reported as 1%-4%. Cases with this karyotype were reported to have higher rates of spontaneous menarche and fertility with a lower incidence of short stature and renal abnormalities. A thirteen year-old girl was admitted to our clinic with the complaints of decreased height velocity for the last two years and short stature compared to peers. On physical examination, her height was 135 cm (SD score -3.3 and weight was 32 kg (SD score -2.3 with breast development and pubic hair consistent with Tanner stage III. She also had an increased carrying angle of the elbow and low nuchal hairline. Remaining systemic physical examination was normal. Laboratory evaluation revealed normal complete blood count, renal, hepatic, and thyroid function test results. Bone age was consistent with 11 years. FSH was 5.99 mIU/mL, LH 2.94 mIU/mL, and E2 <20 pg/mL. The result of karyotype analysis was reported to be 45.X/47.XXX. She had no renal abnormality and echocardiogram revealed no pathological finding except minimal mitral valve regurgitation. WISC-R intelligence test was performed due to poor school skills and her IQ score was reported as 68. Recombinant human growth hormone treatment was started and at follow up, she had spontaneous menarche at the age of 13.5 years. With this report, it was aimed to emphasize i the clinical features of this rare 45.X/47.XXX mosaicism and ii the necessity of considering mosaic Turner syndrome in differential diagnosis and determining karyotype in all girls with short stature despite normal pubertal development. (The Jo­ur­nal of Cur­rent Pe­di­at­rics 2014;1:43-7

  5. 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.

  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 OBJECTIVES: 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. METHODS: 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. RESULTS: 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. CONCLUSION: 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. CLINICAL TRIAL REGISTRATION: NCT00624949. https://register.clinicaltrials.gov/prs/app/action/SelectProtocol/sid/S0001FLI/selectaction/View/ts/3/uid/U000099E.

  7. Man Corn: Cannibalism and Violence in the Prehistoric American Southwest. Christy G. Turner and Jacqueline A. Turner. University of Utah Press, Salt Lake City, 1999

    OpenAIRE

    Charles C. Kolb

    1999-01-01

    Human sacrifice and cannibalism, the potential for institutionalized violence or warfare, witchcraft or sorcery, and ritual executions are emotionally charged issues; but some anthropologists and other learned scholars now suggest that these activities and behaviors occurred in the American Southwest, a region usually depicted for peace, harmony, tranquility, and spirituality. Christy Turner, Regents' Professor in the ...

  8. Clinical practice guidelines for the care of girls and women with Turner syndrome: proceedings from the 2016 Cincinnati International Turner Syndrome Meeting

    DEFF Research Database (Denmark)

    Gravholt, Claus H; Andersen, Niels Holmark; Conway, Gerard S

    2017-01-01

    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...

  9. Science with the James Webb Space Telescope

    Science.gov (United States)

    Gardner, Jonathan P.

    2012-01-01

    The science objectives of the James Webb Space Telescope fall into four themes. The End of the Dark Ages: First Light and Reionization theme seeks to identify the first luminous sources to form and to determine the ionization history of the universe. The Assembly of Galaxies theme seeks to determine how galaxies and the dark matter, gas, stars, metals, morphological structures, and black holes within them evolved from the epoch of reionization to the present. The Birth of Stars and Protoplanetary Systems theme seeks to unravel the birth and early evolution of stars, from infall onto dust-enshrouded protostars, to the genesis of planetary systems. The Planetary Systems and the Origins of Life theme seeks to determine the physical and chemical properties of planetary systems around nearby stars and of our own, and to investigate the potential for life in those systems. These four science themes were used to establish the design requirements for the observatory and instrumentation. Since Webb's capabilities are unique, those science themes will remain relevant through launch and operations and goals contained within these themes will continue to guide the design and implementation choices for the mission. More recently, it has also become clear that Webb will make major contributions to other areas of research, including dark energy, dark matter, active galactic nuclei, stellar populations, exoplanet characterization and Solar System objects. In this paper, we review the original four science themes and discuss how the scientific output of Webb will extend to these new areas of research. The James Webb Space Telescope was designed to meet science objectives in four themes: The End of the Dark Ages: First Light and Reionization, The Assembly of Galaxies, The Birth of Stars and Protoplanetary Systems, and Planetary Systems and the Origins of Life. More recently, it has become clear that Webb will also make major contributions to studies of dark energy, dark matter

  10. The Patient with Turner Syndrome: Puberty and Medical Management Concerns

    Science.gov (United States)

    Gonzalez, Luisa; Witchel, Selma Feldman

    2013-01-01

    Turner Syndrome (TS) affects approximately 1 in 2500 liveborn females and is characterized by loss or structural anomalies of an X chromosome. Clinical features vary among patients; multiple organ systems can be affected. Endocrinologists are involved in the management of short stature, delayed puberty, and infertility. Endocrine therapies can include growth hormone, estrogen, and progestagen to promote linear growth and pubertal development. The duration of estrogen and progestagen treatment (HRT) is generally more than 40 years. There is not one standard HRT protocol that is suitable for all women. Thus, general guidelines are provided for HRT to induce pubertal development. Additional considerations regarding choice of HRT include thrombotic risk and disorders associated with thrombophila. Involvement of cardiologists is important because approximately 50% of patients with TS have congenital structural cardiac anomalies linked to an increased risk for aortic dissection and rupture. Although oocyte donation offers the chance to carry a pregnancy, accumulating information has highlighted the potential dangers associated with pregnancy. Advances in the care of infants, girls, and women with TS have been achieved. Management of infants, girls, and women with TS involves coordinated care from a multi-disciplinary team including endocrinologists, cardiologists, geneticists, otolaryngologists, behavioral health experts, nurse educators, and social workers. PMID:22884020

  11. Turner syndrome with spinal hemorrhage due to vascular malformation.

    Science.gov (United States)

    Yu, Min Kyung; Jung, Mo Kyung; Kim, Ki Eun; Kwon, Ah Reum; Chae, Hyun Wook; Kim, Duk Hee; Kim, Ho-Seong

    2015-12-01

    Turner syndrome (TS) is a relatively common chromosomal disorder and is associated with a range of comorbidities involving the cardiovascular system. Vascular abnormalities, in particular, are a common finding in cases of TS. However, dissection involving the vertebral arteries is rare. Here, we report the case of a 9-year-old girl with TS who had been treated with growth hormone replacement therapy for the past 3 years. She presented with weakness of both lower legs, and was ultimately diagnosed with spinal hemorrhage due to vascular malformation. We treated her with intravenous high dose dexamethasone (0.6 mg/kg) and she could walk without assistance after 6 days of treatment. In conclusion, when a patient with TS shows sudden weakness of the lower limbs, we should consider the possibility of spinal vessel rupture and try to take spine magnetic resonance imaging as soon as possible. We suggest a direction how to make a proper diagnosis and management of sudden vertebral artery hemorrhage in patients with TS.

  12. Cytogenetic evaluation of patients with clinical spectrum of Turner syndrome

    Science.gov (United States)

    Moka, Rajasekhar; Sreelakshmi, Kodandapani; Gopinath, Puthiya Mundyat; Satyamoorthy, Kapettu

    2013-01-01

    AIM: The objective of this study was to correlate the genotype, of female patients, withshort stature and primary amenorrhea. MATERIALS AND METHODS: One hundred and forty-six subjects were recruited during 2005-2012. Microscopic and automated karyotyping analyses were done by using chromosomes isolated from the lymphocytes using Giemsa banding (GTG) to identify chromosome abnormalities. RESULTS: A total of 146 clinically suspected Turner syndrome (TS) subjects were recruited for the study, of which, 61 patients were identified to have chromosome abnormalities. The chromosomal abnormalities detected were as follows: Monosomy X (n = 19, 13.01%), triple X syndrome (n = 4, 2.7%), mosaic TS (n = 12, 8.21%), XY gonadal dysgenesis (n = 13, 8.9%), and structural abnormalities including X chromosome (n = 15, 10.27%) and one patient each with autosomal changes involving 9qh inversion and translocation of chromosomes 12 and 14. CONCLUSION: Karyotype abnormalities accounting for 46% in this study emphasize the need for karyotype testing in cases of short stature with primary amenorrhea. PMID:24082654

  13. Prevalence and clinical picture of celiac disease in Turner syndrome.

    Science.gov (United States)

    Bonamico, Margherita; Pasquino, Anna M; Mariani, Paolo; Danesi, Helene M; Culasso, Franco; Mazzanti, Laura; Petri, Antonella; Bona, Giovanni

    2002-12-01

    A multicenter study of Turner syndrome (TS) patients was carried out to estimate the prevalence of celiac disease (CD) and to detect clinical characteristics and laboratory data of affected patients. Three hundred eighty-nine girls with TS were screened by IgA antigliadin antibodies and/or antiendomysial antibodies. Intestinal biopsy was offered to positive cases. CD was diagnosed in 25 patients. In celiac subjects, anemia, anorexia, and delayed growth (with respect to Italian TS curves) were frequently present; whereas distended abdomen, chronic diarrhea, constipation, and vomiting occurred more rarely. In addition, low serum iron levels, hemoglobinemia, and high values of aminotransferases were observed. Ten patients showed classic CD, 8 showed atypical symptoms, and 7 showed a silent CD. In 11 symptomatic patients, the diagnosis of CD was made at the onset of symptoms, whereas 7 of them showed a median delay of 79 months in diagnosis. Other autoimmune disorders were observed in 40% of the patients. Our study confirms the high prevalence (6.4%) of CD in a large series of TS patients. Moreover, the subclinical picture in 60% of the cases, the diagnostic delay, and the incidence of other autoimmune disorders suggest that routine screening of CD in TS is indicated.

  14. Concomitant occurrence of Turner syndrome and growth hormone deficiency.

    Science.gov (United States)

    Yu, Jung; Shin, Ha Young; Lee, Chong Guk; Kim, Jae Hyun

    2016-11-01

    Turner syndrome (TS) is a genetic disorder in phenotypic females that has characteristic physical features and presents as partial or complete absence of the second sex chromosome. Growth hormone deficiency (GHD) is a condition caused by insufficient release of growth hormone from the pituitary gland. The concomitant occurrence of TS and GHD is rare and has not yet been reported in Korea. Here we report 2 cases of TS and GHD. In case 1, GHD was initially diagnosed. Karyotyping was performed because of the presence of the typical phenotype and poor response to growth hormone therapy, which revealed 45,X/45,X+mar. The patient showed increased growth velocity after the growth hormone dose was increased. In case 2, a growth hormone provocation test and chromosomal analysis were performed simultaneously because of decreased growth velocity and the typical TS phenotype, which showed GHD and a mosaic karyotype of 45,X/46,XX. The patient showed spontaneous pubertal development. In female patients with short stature, it is important to perform a throughout physical examination and test for hormonal and chromosomal abnormalities because diagnostic accuracy is important for treatment and prognosis.

  15. 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.

  16. A Case of Turner Syndrome with Multiple Embolic Infarcts.

    Science.gov (United States)

    Yoon, Cindy W; Lee, Eungseok; Yoon, Byung-Nam; Park, Hee-Kwon; Rha, Joung-Ho

    2016-01-01

    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.

  17. 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.

  18. Cytogenetic evaluation of patients with clinical spectrum of Turner syndrome

    Directory of Open Access Journals (Sweden)

    Rajasekhar Moka

    2013-01-01

    Full Text Available Aim: The objective of this study was to correlate the genotype, of female patients, withshort stature and primary amenorrhea. Materials and Methods: One hundred and forty-six subjects were recruited during 2005-2012. Microscopic and automated karyotyping analyses were done by using chromosomes isolated from the lymphocytes using Giemsa banding (GTG to identify chromosome abnormalities. Results: A total of 146 clinically suspected Turner syndrome (TS subjects were recruited for the study, of which, 61 patients were identified to have chromosome abnormalities. The chromosomal abnormalities detected were as follows: Monosomy X (n = 19, 13.01%, triple X syndrome (n = 4, 2.7%, mosaic TS (n = 12, 8.21%, XY gonadal dysgenesis (n = 13, 8.9%, and structural abnormalities including X chromosome (n = 15, 10.27% and one patient each with autosomal changes involving 9qh inversion and translocation of chromosomes 12 and 14. Conclusion: Karyotype abnormalities accounting for 46% in this study emphasize the need for karyotype testing in cases of short stature with primary amenorrhea.

  19. A Case of Turner Syndrome with Multiple Embolic Infarcts

    Science.gov (United States)

    Yoon, Cindy W.; Lee, Eungseok; Yoon, Byung-Nam; Park, Hee-Kwon; Rha, Joung-Ho

    2016-01-01

    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.

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

    OpenAIRE

    Jones, Steve

    2009-01-01

    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 whethe...

  1. Identity, influence, and change: rediscovering John Turner's vision for social psychology.

    Science.gov (United States)

    Haslam, S Alexander; Reicher, Stephen D; Reynolds, Katherine J

    2012-06-01

    John Turner, whose pioneering work on social identity and self-categorization theories changed the face of modern social psychology, died in July 2011. This unique virtual special issue celebrates Turner's life and work by reproducing a number of key articles that were published in the British Journal of Social Psychology and the European Journal of Social Psychology over the course of his career. These articles are of three types: first, key position papers, on which Turner was the leading or sole author; second, papers that he published with collaborators (typically PhD students) that explored key theoretical propositions; third, short commentary papers, in which Turner engaged in debate around key issues within social psychology. Together, these papers map out a clear and compelling vision. This seeks to explain the distinctly social nature of the human mind by showing how all important forms of social behaviour - and in particular, the propensity for social influence and social change -are grounded in the sense of social identity that people derive from their group memberships. As we discuss in this editorial, Turner's great contribution was to formalize this understanding in terms of testable hypotheses and generative theory and then to work intensively but imaginatively with others to take this vision forward.

  2. 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.

  3. Building the James Webb Space Telescope

    Science.gov (United States)

    Gardner, Jonathan P.

    2012-01-01

    The James Webb Space Telescope is the scientific successor to the Hubble and Spitzer Space Telescopes. It will be a large (6.6m) cold (50K) telescope launched into orbit around the second Earth-Sun Lagrange point. It is a partnership of NASA with the European and Canadian Space Agencies. JWST will make progress In almost every area of astronomy, from the first galaxies to form in the early universe to exoplanets and Solar System objects. Webb will have four instruments: The Near-Infrared Camera, the Near-Infrared multi-object Spectrograph, and the Near-Infrared Imager and Slitless Spectrograph will cover the wavelength range 0.6 to 5 microns, while the Mid-Infrared Instrument will do both imaging and spectroscopy from 5 to 28.5 microns. The observatory Is confirmed for launch in 2018; the design is complete and it is in its construction phase. Innovations that make JWST possible include large-area low-noise infrared detectors, cryogenic ASICs, a MEMS micro-shutter array providing multi-object spectroscopy, a non-redundant mask for interferometric coronagraphy and diffraction-limited segmented beryllium mirrors with active wavefront sensing and control. Recent progress includes the completion of the mirrors, the delivery of the first flight instruments and the start of the integration and test phase.

  4. 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.

  5. Sir James Elliott, medical journalist supreme.

    Science.gov (United States)

    Wright-St Clair, R

    1995-01-25

    James Sands Elliott was editor of the New Zealand Medical Journal from 1911 to 1933. He was a powerful writer in a flamboyant style, erudite and filled with classical and literary allusions and quotations. We are told that doctors of the time, on receiving their journals, would turn first to the editorial to see "what JSE has got to say." He served the profession in numerous ways, as chairman of council and president of the New Zealand Branch of the British Medical Association (BMA), as president from 1929 to 1955 of the New Zealand Branch of the British Empire Cancer Campaign (now the Cancer Society), and as a member of the Medical Council, the Board of Health and the Medical Research Council. It was his outstanding ability as a medical journalist, however, which made him one of the most powerful figures in New Zealand medicine in his time. He ardently upheld worthy causes in the interests of the medical profession as he saw them and wrote trenchant editorials on those subjects.

  6. A Conversation with James J. Morgan

    Science.gov (United States)

    Morgan, James J.; Newman, Dianne K.

    2015-05-01

    In conversation with professor Dianne Newman, Caltech geobiologist, James "Jim" J. Morgan recalls his early days in Ireland and New York City, education in parochial and public schools, and introduction to science in Cardinal Hayes High School, Bronx. In 1950, Jim entered Manhattan College, where he elected study of civil engineering, in particular water quality. Donald O'Connor motivated Jim's future study of O2 in rivers at Michigan, where in his MS work he learned to model O2 dynamics of rivers. As an engineering instructor at Illinois, Jim worked on rivers polluted by synthetic detergents. He chose to focus on chemical studies, seeing it as crucial for the environment. Jim enrolled for PhD studies with Werner Stumm at Harvard, who mentored his research in chemistry of particle coagulation and oxidation processes of Mn(II) and (IV). In succeeding decades, until retirement in 2000, Jim's teaching and research centered on aquatic chemistry; major themes comprised rates of abiotic manganese oxidation on particle surfaces and flocculation of natural water particles, and chemical speciation proved the key.

  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. 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…

  10. Successful Advanced Maternal Age Pregnancy with Mosaic Turner Syndrome Conceived after Ovulation Induction with Clomiphene Citrate: A Case Report

    Directory of Open Access Journals (Sweden)

    Masahiro Murakami

    2014-01-01

    Full Text Available Turner women typically experience gonadal dysfunction that results in amenorrhea and sterility. We encountered a case of mosaic Turner syndrome where conception was possible after ovulation induction with clomiphene citrate (CC. The patient’s ovaries were overresponsive to induction with CC. The challenges and successful outcome are reported.

  11. Successful advanced maternal age pregnancy with mosaic turner syndrome conceived after ovulation induction with clomiphene citrate: a case report.

    Science.gov (United States)

    Murakami, Masahiro; Hinokio, Kenji; Kiyokawa, Machiko; Morine, Mikio; Iwasa, Takeshi

    2014-01-01

    Turner women typically experience gonadal dysfunction that results in amenorrhea and sterility. We encountered a case of mosaic Turner syndrome where conception was possible after ovulation induction with clomiphene citrate (CC). The patient's ovaries were overresponsive to induction with CC. The challenges and successful outcome are reported.

  12. 75 FR 16098 - Southern Turner Cimarron I, LLC; Supplemental Notice That Initial Market-Based Rate Filing...

    Science.gov (United States)

    2010-03-31

    ... From the Federal Register Online via the Government Publishing Office ] DEPARTMENT OF ENERGY Federal Energy Regulatory Commission Southern Turner Cimarron I, LLC; Supplemental Notice That Initial... supplemental notice in the above-referenced proceeding of Southern Turner Cimarron I, LLC's application...

  13. 75 FR 59259 - Turner Energy, LLC; Supplemental Notice That Initial Market-Based Rate Filing Includes Request...

    Science.gov (United States)

    2010-09-27

    ... From the Federal Register Online via the Government Publishing Office DEPARTMENT OF ENERGY Federal Energy Regulatory Commission Turner Energy, LLC; Supplemental Notice That Initial Market-Based Rate... notice in the above-referenced proceeding of Turner Energy, LLC's application for market-based...

  14. James Campbell National Wildlife Refuge: Narrative Report: 1989: Calendar Year

    Data.gov (United States)

    US Fish and Wildlife Service, Department of the Interior — This annual narrative report for James Campbell NWR outlines Refuge accomplishments during the 1989 calendar year. The report begins with a summary of the year's...

  15. James Campbell National Wildlife Refuge: Comprehensive Conservation Plan

    Data.gov (United States)

    US Fish and Wildlife Service, Department of the Interior — This Comprehensive Conservation Plan (CCP) was written to guide management on James Campbell National Wildlife Refuge for the next 15 years. This plan outlines the...

  16. Public Use Management Plan James River National Wildlife Refuge 1992

    Data.gov (United States)

    US Fish and Wildlife Service, Department of the Interior — The Public Use Plan for James River National Wildlife Refuge is intended to identify public use issues, objectives, and appropriate strategies for managing public...

  17. 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

  18. Timber Inventory for the James River National Wildlife Refuge 2006

    Data.gov (United States)

    US Fish and Wildlife Service, Department of the Interior — A timber cruise of selected young pine tree plantations was conducted during the summer of 2006 at the James River National Wildlife Refuge. The purpose of this...

  19. 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...

  20. James J. Howard Marine Sciences Laboratory @ Sandy Hook

    Data.gov (United States)

    Federal Laboratory Consortium — The James J. Howard Marine Sciences Laboratory, located on the New Jersey shore at Sandy Hook, is a state-of-the-art marine research facility shared by the National...

  1. James J. Howard Marine Sciences Laboratory @ Sandy Hook

    Data.gov (United States)

    Federal Laboratory Consortium — The James J. Howard Marine Sciences Laboratory, located on the New Jersey shore at Sandy Hook, is a state-of-the-art marine research facility shared by the National...

  2. Annual Narrative James River National Wildlife Refuge 1994

    Data.gov (United States)

    US Fish and Wildlife Service, Department of the Interior — This annual narrative report for James River National Wildlife Refuge outlines Refuge accomplishments during the 1994 calendar year. The report begins with a summary...

  3. 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

  4. Status of southern James Bay population of Canada geese

    Data.gov (United States)

    US Fish and Wildlife Service, Department of the Interior — This report provides background on the southern James Bay population (SJBP) of Canada geese, as well as a summary of problems confronting SJBP and recommendations...

  5. El modelo de colonización antioqueña de James Parsons. Un balance historiográfico

    Directory of Open Access Journals (Sweden)

    Jaime Londoño

    2002-01-01

    Full Text Available Los procesos de colonización de vertiente de la región antioqueña colombiana desde finales de la Colonia no han sido estudiados detenidamente por la historiografía colombiana. Las pocas investigaciones que se han realizado se inspiran en la obra clásica de James Parsons, La colonización antioqueña en el occidente de Colombia, publicada en el país en 1949, cuya incidencia aún no ha sido plenamente evaluada. El único debate significativo se ha centrado en torno a la tesis de la conformación de una supuesta sociedad democrática e igualitaria de pequeños y medianos propietarios en la zona. Sin embargo, el autor señala que el modelo general de colonización propuesto por Parsons y el concepto de frontera que lo inspira, tomado de la obra de Frederick J. Turner, han sido apropiados por los investigadores de manera pasiva, sin someterlos a una verdadera revisión crítica. A través de un balance de las diferentes obras que, de una u otra manera, se han ocupado del tema de la colonización antioqueña, el autor trata de dar una respuesta acerca de las razones de esta apropiación pasiva del modelo parsoniano

  6. Discovering One’s Own C.L.R. James

    Directory of Open Access Journals (Sweden)

    Anthony P. Maingot

    2012-12-01

    Full Text Available Review of:C.L.R. James and the Study of Culture. Andrew Smith. Houndsmills, Basingstoke, U.K.: Palgrave Macmillan, 2010. vi + 174 pp. (Cloth US$ 80.00You Don’t Play With Revolution: The Montreal Lectures of C.L.R. James. David Austin (ed.. Oakland CA: A.K. Press, 2009. viii + 334 pp. (Paper US$ 18.95

  7. 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.)

  8. A study in inspiration: Charles Henry Turner (1867--1923) and the investigation of insect behavior.

    Science.gov (United States)

    Abramson, Charles I

    2009-01-01

    Charles Henry Turner was an African American scientist who, while eking out a living as a high school science teacher, made important advances in the study of insect learning and behavior. Contributions include the development of research methods, investigations of color vision and pattern vision in honey bees, and the first demonstration of Pavlovian conditioning in an insect. This review begins with a biography and continues with a summary of his major research accomplishments. Also included are quotations from his publications and from people who knew him. In addition, the question is raised as to why Turner did not receive an academic appointment, and similar data of racial disparity are presented on the small number of African American entomologists. It is suggested that the story of Turner can be used to increase interest in entomology, especially among African Americans.

  9. 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.

  10. [Down-Turner syndrome (45,X/47,XY,+21): case report and review].

    Science.gov (United States)

    Ryu, Sook Won; Lee, Goeun; Baik, Cheong Soon; Shim, Sung Han; Kim, Jin Tack; Lee, Jung Soo; Lee, Kyung A

    2010-04-01

    We report the case of a 3-yr-old boy with Down-Turner mosaicism and review the previous reports of Down-Turner syndrome with documented karyotyping and clinical features. The patient showed clinical features of Down syndrome without significant stigma of Turner syndrome. Cytogenetic analysis of peripheral blood preparations by using G-banding revealed mosaicism with 2 cell lines (45,X[29]/47,XY,+21[4]). FISH analysis revealed that 87.5% of the cells had monosomy X karyotype and 12.5% of the cells had XY karyotype; trisomy 21 was only detected in the Y-positive cells. We suggest that additional cells should be analyzed and molecular genetic studies should be conducted to rule out double aneuploidy when karyotypes with sex chromosome aneuploidies and mosaicism are encountered, as in our case of Down syndrome mosaic with sex chromosome aneuploidy.

  11. Genotype/phenotype correlation in women with nonmosaic X chromosome deletions and Turner syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Zinn, A.R. [Univ. of Texas Southwestern Medical School, Dallas, TX (United States)

    1994-09-01

    Turner syndrome is a complex human developmental disorder associated with the absence of the second sex chromosome (monosomy X). Cardinal features of the Turner phenotype include high intrauterine lethality, growth retardation, gonadal failure, and the variable presence of specific somatic abnormalities such as webbed neck, lymphedema, and skeletal abnormalities. Recent observations support the hypothesis that the phenotype associated with monosomy X results from haploid dosage of genes common the X and Y chromosomes that escape X-inactivation ({open_quotes}Turner genes{close_quotes}). Apart from a locus causing short stature that maps to the pseudoautosomal region on the distal short arm, the location of X-linked Turner genes is not known. Karyotype/phenotype correlations in women with partial X deletions have been inconsistent. However, previous studies have focused on sporadic sex chromosome aberrations and may have been confounded by occult mosaicism. In addition, mapping of deletions was limited by the resolution of cytogenetic techniques. I am reexamining genotype/phenotype correlations in partial X monosomy, focusing on a subset of cases in which mosaicism is highly unlikely (e.g., unbalanced X-autosome translocations, familial X deletions), and using molecular techniques to map deletions. I have collected eight cases of nonmosaic X deletions in women with varied manifestations of Turner syndrome. Cytogenetic data suggests that genes responsible for Turner anatomic abnormalities may lie within a critical region of the very proximal portion of the short arm (Xp11). Molecular characterization of the deletions is in progress. Methods include (1) fluorescence in situ hybridization of metaphase spreads from patient-derived cell lines, using cosmid probes that map to known locations on Xp, and (2) sequence tagged site (STS) content mapping of somatic cell hybrids retaining the deleted X chromosomes derived from these cell lines.

  12. 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.

  13. Skeletal muscle microvascular function in girls with Turner syndrome

    Science.gov (United States)

    West, Sarah L.; O'Gorman, Clodagh S.; Elzibak, Alyaa H.; Caterini, Jessica; Noseworthy, Michael D.; Rayner, Tammy; Hamilton, Jill; Wells, Greg D.

    2014-01-01

    Background Exercise intolerance is prevalent in individuals with Turner Syndrome (TS). We recently demonstrated that girls with TS have normal aerobic but altered skeletal muscle anaerobic metabolism compared to healthy controls (HC). The purpose of this study was to compare peripheral skeletal muscle microvascular function in girls with TS to HC after exercise. We hypothesized that girls with TS would have similar muscle blood-oxygen level-dependent (BOLD) magnetic resonance imaging (MRI) signal responses during recovery from exercise compared to HC. Methods Thirteen TS participants and 8 HC completed testing. BOLD MRI was used to measure skeletal muscle microvascular response during 60 second recovery, following 60 s of exercise at 65% of maximal workload. Exercise and recovery were repeated four times, and the BOLD signal time course was fit to a four-parameter sigmoid function. Results Participants were 13.7 ± 3.1 years old and weighed 47.9 ± 14.6 kg. The mean change in BOLD signal intensity following exercise at the end of recovery, the mean response time of the function/the washout of deoxyhemoglobin, and the mean half-time of recovery were similar between the TS and HC groups. Conclusions Our results demonstrate that compared to HC, peripheral skeletal muscle microvascular function following exercise in girls with TS is not impaired. General significance This study supports the idea that the aerobic energy pathway is not impaired in children with TS in response to submaximal exercise. Other mechanisms are likely responsible for exercise intolerance in TS; this needs to be further investigated. PMID:26676172

  14. Gonadoblastoma in patients with Ullrich-Turner syndrome.

    Science.gov (United States)

    Zelaya, Gabriela; López Marti, Jessica M; Marino, Roxana; Garcia de Dávila, Maria T; Gallego, Marta S

    2015-01-01

    Ullrich-Turner syndrome (UTS) is a common chromosomal abnormality caused by partial or complete X chromosome monosomy. One half of the patients have a 45,X karyotype, whereas the remaining patients display other X chromosome anomalies. In 6% to 11% of UTS, a normal or partly deleted Y chromosome has been found. A 10% to 30% risk of developing gonadoblastoma was found in the latter patients. The aim of this study was to evaluate the prevalence of Y chromosome-derived material, the occurrence of gonadoblastoma, and the incidence of possible neoplasms in patients with UTS. Of 217 patients studied with UTS and chromosome analysis of peripheral-blood lymphocytes, Y chromosome material was found in 20 patients. Fluorescence in situ hybridization (FISH) testing was performed to characterize the structurally abnormal Y chromosome in 13 cases. Molecular analysis of the SRY gene could only be performed in 20 patients with 45,X karyotype. Two patients had the SRY genomes. Of the 20 patients with Y chromosome-derived material, 17 underwent gonadectomy. The incidence of gonadoblastoma development in our series was 35.5%. Furthermore, 1 patient also showed a pure dysgerminoma, and another showed a mixed dysgerminoma and embryonal carcinoma. We emphasize the importance of complete processing of the gonadectomy specimen, including step sections, molecular studies, and FISH, in addition to the classic cytogenetic searching for Y chromosome sequences, in patients who present with a nonmosaic 45,X karyotype. Finally, we propose to routinely collect a sample for storage in the tumor bank for future studies.

  15. Y chromosome in Turner syndrome: review of the literature

    Directory of Open Access Journals (Sweden)

    Rose Mary Rocco de Oliveira

    Full Text Available Turner syndrome (TS is one of the most common types of aneuploidy among humans, and is present in 1:2000 newborns with female phenotype. Cytogenetically, the syndrome is characterized by sex chromosome monosomy (45,X, which is present in 50-60% of the cases. The other cases present mosaicism, with a 45,X cell line accompanied by one or more other cell lines with a complete or structurally abnormal X or Y chromosome. The presence of Y-chromosome material in patients with dysgenetic gonads increases the risk of gonadal tumors, especially gonadoblastoma. The greatest concern is the high risk of developing gonadoblastoma or other tumors and virilization during puberty if chromosome Y-specific sequences are present. The role of the Y chromosome in human oncogenesis is still controversial. Even though gonadoblastoma is a benign tumor, it can undergo transformation into invasive dysgerminoma in 60% of the cases, and also into other, malignant forms of germ cell tumors. Although some authors have questioned the high incidence of gonadoblastoma (around 30%, the risk of developing any kind of gonadal lesion, whether tumoral or not, justifies investigation of Y-chromosome sequences by means of the polymerase chain reaction (PCR, a highly sensitive, low-cost and easy-to-perform technique. In conclusion, mosaicism of both the X and the Y chromosome is a common finding in TS, and detection of Y-chromosome-specific sequences in patients, regardless of their karyotype, is necessary in order to prevent the development of gonadal lesions.

  16. 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.

  17. Gonadal dysgenesis, Turner syndrome with 46,XX,del(18p)3

    Energy Technology Data Exchange (ETDEWEB)

    Telvi, L.; Ion, R. [Hopital Saint Vincent de Paul, Paris (France); Bernheim, A. [CNRS, Villejif (France)] [and others

    1994-09-01

    The authors report a case of a female infant with gonadal dysgenesis, clinical features of Turner syndrome and a de novo del(18p). The factors controlling gonadal dysgenesis and Turner syndrome are unknown to date. The genes involved could be located not only on X chromosome but also on autosomes. The present case suggests that one of these genes is situated on the short arm of chromosome 18. We conclude that patients with del(18p) syndrome should be evaluated for gonadal dysgenesis.

  18. Luzes e sombras no dia social: o símbolo ritual em Victor Turner

    Directory of Open Access Journals (Sweden)

    Maria Laura Viveiros de Castro Cavalcanti

    2012-06-01

    Full Text Available O tema do ritual é marcante na obra de Victor Turner, em especial nos trabalhos diretamente baseados em sua experiência de campo entre os lunda-ndembus realizada nos anos 1950. O artigo examina as formulações do autor nessa fase de sua obra, tomando como fio condutor o conceito de símbolo ritual, que condensa aspectos centrais da abordagem dos rituais. O conceito de símbolo ritual é examinado "em ação", ou seja, é enfocado através de diferentes textos e visto como um dos lugares da obra turneriana onde o esforço de teorização se associou à apreensão etnográfica dos sentidos do ritual. Com essa noção, ao articular reflexões sobre as dimensões cognitivas e experienciais da vida social, Turner buscou abranger dimensões inconscientes do pensamento e da ação. O exame de sua hermenêutica do símbolo indica uma solução de compromisso entre duas direções de pensamento turneriano: a tendência metafísica e religiosa e sua aproximação de formulações psicanalíticas freudianas.Ritual is one of Victor Turner's main themes. The author's interest in the subject emerges since his early works based in the fieldwork among the Lunda-Ndembu in the 1950's. The paper examines Turner's approach to ritual in this initial phase of his career and takes the concept of ritual symbol as a guideline. This concept encapsulates the core aspects of Turner's view of ritual and is examined "in action", that means in its movement through different texts. The ritual symbol is seen as one locus of Turner's work in which his efforts of conceptualization are strongly associated with his keen ethnographic sense of ritual. With this notion, Turner articulated cognitive and experiential dimensions of social life, and sought to unravel its unconscious dimensions. Turner's development of a semantic and hermeneutic approach to the ritual symbol emerges as a compromise between two quite different directions of his thought: his metaphysical and religious

  19. 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) or the A......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...

  20. Turner Syndrome and apparent absent uterus: a case report and review of the literature.

    Science.gov (United States)

    Akierman, Sarah V; Skappak, Christopher D; Girgis, Rose; Ho, Josephine

    2013-01-01

    We report on a patient who initially presented with delayed puberty and an absent uterus on imaging with ultrasound and MRI. She was subsequently diagnosed with Turner Syndrome. Turner Syndrome typically presents with early loss of ovarian function and should be considered when primary ovarian insufficiency is present with apparent absent uterus on imaging. Follow-up imaging of the apparent absent uterus post-estrogen replacement therapy is important to confirm a normal uterus. A diagnosis of an absent uterus can be psychologically traumatic for patients and families, and can have significant implications for future fertility options.

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

    OpenAIRE

    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 insuf...

  2. Oral-motor dysfunction and feeding disorders of infants with Turner syndrome.

    Science.gov (United States)

    Mathisen, B; Reilly, S; Skuse, D

    1992-02-01

    The oral-motor function of 10 infants with Turner syndrome and their age- and sex-matched controls were assessed during feeding. In addition to well-recognised dysmorphic features, including oral anomalies and high-arched palates, index infants had marked hypotonia of the cheeks and lips, dysfunctional tongue movements and poorly developed chewing skills. Their meal-times were significantly shorter than those of the controls and they weighed significantly less at six, 12 and 15 months. All mothers of infants with Turner syndrome complained of difficulties feeding their children and these problems often had been present since birth.

  3. Current controversies in turner syndrome: Genetic testing, assisted reproduction, and cardiovascular risks

    Directory of Open Access Journals (Sweden)

    Amanda Ackermann

    2014-09-01

    Full Text Available Patients with Turner syndrome (TS require close medical follow-up and management for cardiac abnormalities, growth and reproductive issues. This review summarizes current controversies in this condition, including: 1 the optimal genetic testing for Turner syndrome patients, particularly with respect to identification of Y chromosome material that may increase the patient's risk of gonadoblastoma and dysgerminoma, 2 which patients should be referred for bilateral gonadectomy and the recommended timing of such referral, 3 options for assisted reproduction in these patients and associated risks, 4 the increased risk of mortality associated with pregnancy in this population, and 5 how best to assess and monitor cardiovascular risks.

  4. 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

  5. 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

  6. 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

  7. 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

  8. Rapid Processing of Turner Designs Model 10-Au-005 Internally Logged Fluorescence Data

    Science.gov (United States)

    Continuous recording of dye fluorescence using field fluorometers at selected sampling sites facilitates acquisition of real-time dye tracing data. The Turner Designs Model 10-AU-005 field fluorometer allows for frequent fluorescence readings, data logging, and easy downloading t...

  9. A social mind : The context of John Turner's work and its influence

    NARCIS (Netherlands)

    Reicher, Stephen D.; Haslam, S. Alexander; Spears, Russell; Reynolds, Katherine J.

    2012-01-01

    We review John Turner's contribution to social psychology and his ongoing influence on the field. We provide an account of his research and theorising framed by the two major theoretical frameworks which he developed: social identity theory (together with Henri Tajfel) and self-categorisation theory

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

    DEFF Research Database (Denmark)

    Nissen, N; Gravholt, C H; Abrahamsen, B

    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 pubert...

  11. X monosomy and balanced Robertsonian translocation in a girl with Turner Syndrome

    Directory of Open Access Journals (Sweden)

    Aline Lourenço da Silva

    2006-01-01

    Full Text Available We describe a case of X monosomy associated with a maternally inherited t(13;14 Robertsonian translocation in a girl with Turner syndrome. The girl's X chromosome was demonstrated to be maternally inherited, ruling out the hypothesis that the translocation exerted an interchromosomal effect on the origin of the monosomy. Chromosomes 13 and 14 showed biparental inheritance.

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

    Science.gov (United States)

    Mazzaschi, Roberto L. P.; Taylor, Juliet; Robertson, Stephen P.; Love, Donald R.; George, Alice M.

    2014-01-01

    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. PMID:24778889

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

    Science.gov (United States)

    Park, Hong Kyu; Lee, Hae Sang; Ko, Jung Hee; Hwang, Il Tae

    2013-01-01

    Purpose Short 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. Methods Review 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. Results The 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. Conclusion Early growth hormone administration in subjects with Turner syndrome is helpful to improve height response to the treatment. PMID:24904845

  14. 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.

  15. 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.

  16. 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…

  17. 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,…

  18. 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…

  19. 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…

  20. DOES GROWTH-HORMONE TREATMENT OF PATIENTS WITH TURNERS SYNDROME CAUSE AN ABNORMAL BODY SHAPE

    NARCIS (Netherlands)

    GERVER, WJM; DRAYER, NM; VANES, A

    1992-01-01

    The effect of human growth hormone on the body shape of 51 patients with Turner's syndrome (aged 6-19 years) was evaluated. Biosynthetic growth hormone was given in a dose of 24 IU/m2 body surface/week for two years. Karyotype analysis on peripheral blood was performed. Patients older than 12 years

  1. Antenatal diagnosis of mirror-image dextrocardia in association with situs inversus and Turner's mosaicism.

    Science.gov (United States)

    Ortiga, D J; Chiba, Y; Kanai, H; Hosono, T

    2001-10-01

    We describe the antenatal diagnosis of a fetus with mirror-image dextrocardia, complete situs inversus and Turner's mosaicism (45,XO/46,XY) that was artificially terminated at 19 weeks. Autopsy confirmed our initial findings. This case represents an unusual combination of anomalies rarely encountered in clinical practice.

  2. 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).

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

    DEFF Research Database (Denmark)

    Nissen, Nis; Gravholt, Claus H; 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...

  4. Long QT interval in Turner syndrome – a high prevalence of LQTS gene mutations

    DEFF Research Database (Denmark)

    Trolle, Christian; Mortensen, Kristian Havmand; Pedersen, Lisbeth Nørum

    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...

  5. Decreased movement speed in girls with turner syndrome: a problem in motor planning or muscle initiation?

    NARCIS (Netherlands)

    Nijhuis-Van der Sanden, M.W.G.; Eling, P.A.T.M.; Asseldonk, E.H.F. van; Galen, G.P. van

    2004-01-01

    In three experiments with graphical tasks we examined whether the decreased movement speed in girls with Turner Syndrome (TS) is caused either by a diminished planning capacity or by more peripheral motor execution problems. Fourteen girls with TS and 14 matched controls (mean age 11.6 years) partic

  6. Decreased movement speed in girls with Turner Syndrome: A problem in motor planning or muscle initiation ?

    NARCIS (Netherlands)

    Nijhuis-Van der Sanden, M.W.G.; Eling, P.A.T.M.; Asseldonk, E.H.F. van; Galen, G.P. van

    2004-01-01

    In three experiments with graphical tasks we examined whether the decreased movement speed in girls with Turner Syndrome (TS) is caused either by a diminished planning capacity or by more peripheral motor execution problems. Fourteen girls with TS and 14 matched controls (mean age 11.6 years) partic

  7. 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

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

    Energy Technology Data Exchange (ETDEWEB)

    Ryan, M.; Twair, A.; Nelson, E.; Brennan, D.; Eustace, S. [Cappagh National Orthopaedic Hospital Finglas, Dublin (Ireland)

    2004-08-01

    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.

  9. 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

  10. 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 cente

  11. 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.

    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 cente

  12. 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. 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 increase

  13. 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 metabol

  14. 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 heig

  15. 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,

  16. 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.; 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 cente

  17. 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.

  18. Unicuspid Aortic Stenosis in a Patient with Turner Syndrome: A Case Report.

    Science.gov (United States)

    Essandoh, Michael; Castellon-Larios, Karina; Zuleta-Alarcon, Alix; Portillo, Juan Guillermo; Crestanello, Juan A

    2014-01-01

    Congenital aortic valve anomalies are the cause of premature aortic stenosis in pediatric and younger adult populations. Despite being very rare, unicuspid aortic valves account for approximately 5% of isolated aortic valve replacements. Patients with aortic stenosis, present with the same symptomatology independent of leaflet morphology. However, the presence of bicuspid and unicuspid aortic stenosis is associated with a higher incidence of aortopathy, especially in Turner syndrome patients. Turner syndrome, an X monosomy, is associated with aortic valve anomalies, aortopathy, and hypertension. These risk factors lead to a higher incidence of aortic dissection in this population. Patients with Turner syndrome and aortic stenosis that present for aortic valve replacement should therefore undergo extensive aortic imaging prior to surgery. Transthoracic echocardiography is the diagnostic tool of choice for valvular pathology, yet it can misdiagnose unicuspid aortic valves as bicuspid valves due to certain similarities on imaging. Transesophageal echocardiography is a better tool for distinguishing between the two valvular abnormalities, although diagnostic errors can still occur. We present a case of a 50-year-old female with history of Turner syndrome and bicuspid aortic stenosis presenting for aortic valve replacement and ascending aorta replacement. Intraoperative transesophageal echocardiography revealed a stenotic unicommissural unicuspid aortic valve with an eccentric orifice, which was missed on preoperative imaging. This case highlights the importance of intraoperative transesophageal echocardiography in confirming preoperative findings, diagnosing further cardiac pathology, and ensuring adequate surgical repair.

  19. Unicuspid Aortic Stenosis in a Patient with Turner Syndrome: A Case Report

    Directory of Open Access Journals (Sweden)

    Michael eEssandoh

    2014-12-01

    Full Text Available Congenital aortic valve anomalies are the cause of premature aortic stenosis in pediatric and younger adult populations. Despite being very rare, unicuspid aortic valves account for approximately 5% of isolated aortic valve replacements. Patients with aortic stenosis, present with the same symptomatology independent of leaflet morphology. However, the presence of bicuspid and unicuspid aortic stenosis is associated with a higher incidence of aortopathy, especially in Turner syndrome patients. Turner syndrome, an X monosomy, is associated with aortic valve anomalies, aortopathy, and hypertension. These risk factors lead to a higher incidence of aortic dissection in this population. Patients with Turner syndrome and aortic stenosis that present for aortic valve replacement should therefore undergo extensive aortic imaging prior to surgery.Transthoracic echocardiography is the diagnostic tool of choice for valvular pathology, yet it can misdiagnose unicuspid aortic valves as bicuspid valves due to certain similarities on imaging. Transesophageal echocardiography is a better tool for distinguishing between the two valvular abnormalities, although diagnostic errors can still occur. We present a case of a 50-year-old female with history of Turner syndrome and bicuspid aortic stenosis presenting for aortic valve replacement and ascending aorta replacement. Intraoperative transesophageal echocardiography revealed a stenotic unicommissural unicuspid aortic valve with an eccentric orifice, which was missed on preoperative imaging. This case highlights the importance of intraoperative transesophageal echocardiography in confirming preoperative findings, diagnosing further cardiac pathology, and ensuring adequate surgical repair.

  20. EFFECT OF GROWTH-HORMONE TREATMENT ON CRANIOFACIAL GROWTH IN TURNERS SYNDROME

    NARCIS (Netherlands)

    RONGENWESTERLAKEN, C; VANDERBORN, E; PRAHLANDERSEN, B; VONTEUNENBROEK, A; MANESSE, P; OTTEN, BJ; VANDERTWEEL, [No Value; KUIJPERSJAGTMAN, AM; VANDERWAAL, HAD; DRAYER, NM; WIT, JM; VANDERBRANDE, JL

    1993-01-01

    A cephalometric study was performed in 19 patients with Turner's syndrome, aged 8.7-16.5 years. A lateral roentgencephalogram was taken before and after two years of treatment with biosynthetic growth hormone in a dose of 24 IU/m2/week. During two years of growth hormone treatment, the mandibular le

  1. 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

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

    Science.gov (United States)

    Catović, Amra

    2005-08-01

    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 cytogenetics examinations 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.

  3. 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.

  4. 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

  5. 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.

  6. The quality of life of Turner women in comparison with grown-up GH-deficient women.

    Science.gov (United States)

    Okada, Y

    1994-08-01

    Various aspects of the way of life in 20 adult patients (mean age: 25.7 +/- 6.0) with Turner syndrome were studied for their quality of life (QOL). The study found that many more Turner women went on to university (P marriage. Only 4 Turner and 3 GH-deficient women are married. Three of the former marriages were arranged by their parents, but all 3 GH-deficient women got married after falling in love. These marriage rates are significantly lower (P marriage.

  7. 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.

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

    Directory of Open Access Journals (Sweden)

    Shagufta Parveen

    2017-03-01

    Full Text Available 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.

  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. A device to improve the Schleger and Turner method for sweating rate measurements

    Science.gov (United States)

    Pereira, Alfredo Manuel Franco; Alves, Alexandre; Infante, Paulo; Titto, Evaldo A. L.; Baccari, Flávio; Almeida, J. A. Afonso

    2010-01-01

    The objective of this study was to test a device developed to improve the functionality, accuracy and precision of the original technique for sweating rate measurements proposed by Schleger and Turner [Schleger AV, Turner HG (1965) Aust J Agric Res 16:92-106]. A device was built for this purpose and tested against the original Schleger and Turner technique. Testing was performed by measuring sweating rates in an experiment involving six Mertolenga heifers subjected to four different thermal levels in a climatic chamber. The device exhibited no functional problems and the results obtained with its use were more consistent than with the Schleger and Turner technique. There was no difference in the reproducibility of the two techniques (same accuracy), but measurements performed with the new device had lower repeatability, corresponding to lower variability and, consequently, to higher precision. When utilizing this device, there is no need for physical contact between the operator and the animal to maintain the filter paper discs in position. This has important advantages: the animals stay quieter, and several animals can be evaluated simultaneously. This is a major advantage because it allows more measurements to be taken in a given period of time, increasing the precision of the observations and diminishing the error associated with temporal hiatus (e.g., the solar angle during field studies). The new device has higher functional versatility when taking measurements in large-scale studies (many animals) under field conditions. The results obtained in this study suggest that the technique using the device presented here could represent an advantageous alternative to the original technique described by Schleger and Turner.

  11. 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.)

  12. King James II Stuart, Irish Elites and Patriot Parliament

    Directory of Open Access Journals (Sweden)

    Stankov Kirill Nikolaevich

    2014-09-01

    Full Text Available The article is devoted to the insufficiently studied episode of the “Glorious revolution” of 1688-1689, the political fight on Green Island. On the basis of historical sources, the author shows the main directions of Irish policy of last catholic king James II, who tried to fight for his lost British throne, because the majority of population of this catholic country remained loyal to his patron. The author pays special attention to investigating the policy of different ethnic groups represented in Patriot Parliament by their elites. There were two elite groups who supported king James II and tried to influence him: “Old English” aristocracy and “Old Irish” nobility. King’s own elite group also consisted of “New English” and “New Scots”, but during the “Glorious revolution” the majority of them supported the counterpart of king James II – William Orange. Basing the study on historical sources the author proves that eventually king James II had two groups of supporters: “Old English” and “native Irish”. The article is concerned with non-investigated problem of negotiations between king James II and Irish elites and analyses the demands of the last. The author proves that acts and decisions of patriot parliament were the Irish population’s answers to the program and suggestions of king James II and that the main concessions were given to “Old English” aristocracy. The demands of “Old Irish” in agrarian issue were mainly ignored. The Patriot Parliament based the foundations of Jacobite political regime in Ireland during the restoration rebellion of 1689-1691.

  13. James Dunlop's historical catalogue of southern nebulae and clusters

    Science.gov (United States)

    Cozens, Glen; Walsh, Andrew; Orchiston, Wayne

    2010-03-01

    In 1826 James Dunlop compiled the second ever catalogue of southern star clusters, nebulae and galaxies from Parramatta (NSW, Australia) using a 23-cm reflecting telescope. Initially acclaimed, the catalogue and author were later criticised and condemned by others - including Sir John Herschel and both the catalogue and author are now largely unknown. The criticism of the catalogue centred on the large number of fictitious or ‘missing’ objects, yet detailed analysis reveals the remarkable completeness of the catalogue, despite its inherent errors. We believe that James Dunlop was an important early Australian astronomer, and his catalogue should be esteemed as the southern equivalent of Messier's famous northern catalogue.

  14. Turner sendromu ve tamponada yol açan perikardiyal efüzyon birlikteliği: olgu sunumu

    OpenAIRE

    Türker, Yasin; Özaydın, Mehmet

    2017-01-01

    Turner sendromu, tipik fenotipik özellikler ve X kromozomunun sayısal veya yapısal anormallikleri ile karakterize genetik bir hastalıktır. Turner sendromlu hastalarda konjenital kalp hastalığı sıktır. En sık aortanın konjenital malformasyonları, biküspit aorta, aort koarktasyonu ve aort dilatasyonu görülür. Bilgimize göre, Turner sendromunda perikardiyal efüzyon yalnızca bir kez bildirilmiştir. Perikardiyal efüzyon saptanan 50 yaşında Turner sendromlu bir hasta sunuldu. Anahtar kelimeler: Tur...

  15. Presence of Turner stigmata in a case of dysgenetic male pseudohermaphroditism with 45,X/46,X+mar karyotype.

    Science.gov (United States)

    Hashimoto, H; Maruyama, H; Koshida, R; Okuda, N; Murayama, K; Katsumi, T; Watanabe, K; Sato, T

    1997-03-01

    A case is reported of dysgenetic male pseudohermaphroditism (DMPH) having Turner stigmata and 45,X/46,X+mar karyotype. The marker chromosome of this patient consisted of most if not all of the short arm, including the sex determining region of the Y chromosome. Although this karyotype is relatively common in Turner's syndrome and occasionally observed in mixed gonadal dysgenesis, DMPH is usually exemplified by a 46,XY karyotype except for one patient reported with 45,X/46,XY mosaicism. Turner stigmata have not previously been reported in DMPH. The present patient is an intermediate case between mixed gonodal dysgenesis and typical DMPH, and this indicates that 45,X/ 46,X +mar karyotype abnormality can result in a wide range of phenotype such as DMPH, mixed gonodal dysgenesis and Turner's syndrome.

  16. Stylistic Analysis of James Joyce’s Araby

    Institute of Scientific and Technical Information of China (English)

    王雪

    2016-01-01

    Araby is one of the most well-known short stories collection Dubliners by James Joycer, describing a boy disillusionment of love and his growth from innocent to mature. This paper aims at analyzing the short story Araby from the stylistic features including the lexical, syntactic, and semantic parts.

  17. 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.

  18. A Final Glory: The Novels of James Salter.

    Science.gov (United States)

    Dowie, William

    1988-01-01

    Critiques five novels by James Salter--THE HUNTERS, THE ARM OF FLESH, A SPORT AND A PASTIME, LIGHT YEARS, and SOLO FACES. Notes that Salter's works have been ignored by literary critics and the public though praised by other authors. (MM)

  19. A Final Glory: The Novels of James Salter.

    Science.gov (United States)

    Dowie, William

    1988-01-01

    Critiques five novels by James Salter--THE HUNTERS, THE ARM OF FLESH, A SPORT AND A PASTIME, LIGHT YEARS, and SOLO FACES. Notes that Salter's works have been ignored by literary critics and the public though praised by other authors. (MM)

  20. MSFC Director James R. Thompson in Control Room

    Science.gov (United States)

    1988-01-01

    Marshall's fifth Center Director, James R. Thompson (1986-1989), in the control room of the Solid Rocket Booster (SRB)automated thermal protection system (TPS) removal facility. Under Dr. Thompson's leadership, the shuttle program was rekindled after the Challenger explosion. Return to Flight kept NASA 's future programs alive.

  1. President Nixon at Hickam AFB congratulates Astronaut James Lovell

    Science.gov (United States)

    1970-01-01

    President Richard M. Nixon and Astronaut James A. Lovell Jr., Apollo 13 commander, shake hands at special ceremonies at Hickam Air Force Base, Hawaii. President Nixon was in Hawaii to present the Apollo 13 crew with the Presidential Medal of Freedom, the nation's highest civilian honor.

  2. James Mark Baldwin and the Aesthetic Development of the Individual.

    Science.gov (United States)

    Parsons, Michael J.

    1980-01-01

    This paper recounts the ideas of the American cognitive-developmental psychologist James Mark Baldwin (1861-1934) on aesthetic experience: his conceptualization of aesthetic experience as immediate, semblant, personalized, and idealized; and his three-stage theory of aesthetic development. (SJL)

  3. James Baldwin (1841-1925): A Man Who Loved Stories.

    Science.gov (United States)

    Fisher, Peter J. L.; Shapiro, Sheila

    1995-01-01

    Suggests that James Baldwin was one of the most prolific authors of schoolbooks for children during his lifetime (1841-1925). Notes that in addition to the Baldwin Readers (1897), he coauthored the Harper Readers (1888) and Expressive Readers (1911). Estimates that his publications numbered 54 volumes and that 26 million copies of his works sold…

  4. JAMES CROLL—SCIENTIST, WHO LEFT HIS TIME BEHIND

    Directory of Open Access Journals (Sweden)

    Vyacheslav Bol’shakov

    2010-01-01

    Full Text Available In January 2011 it will be 190 years since an outstanding Scottish scientist James Croll was born. He was versatile researcher interested both in life science and humanities (for instance, philosophy. He made the most contribution for the development of the orbital theory of paleoclimate, but it seems that this achievement is not recognised enough yet.

  5. 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.

  6. The Genetic Psychologies of James Mark Baldwin and Jean Piaget.

    Science.gov (United States)

    Cahan, Emily D.

    1984-01-01

    Describes the ideas proposed by James Mark Baldwin which anticipated much of Jean Piaget's work. The goals, genetic approach, and epistemological assumptions underlying Piaget's inquiry into cognitive development found explicit statement in Baldwin's work. Discusses Baldwin's current importance for psychology. (Author/CB)

  7. 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,…

  8. James Moffett's Mistake: Ignoring the Rational Capacities of the Other

    Science.gov (United States)

    Donehower, Kim

    2013-01-01

    Using Alasdair MacIntyre's theory of tradition-bound rationalities, this essay analyses James Moffett's depiction of the censors who opposed his "Interactions" textbook series in the Kanawha County, West Virginia, schools. Many reviewers have found Moffett's analysis of the censors in "Storm in the Mountains" even-handed and…

  9. James Moir (1874–1929) Pioneering Chemical Analyst in South ...

    African Journals Online (AJOL)

    NICO

    commemorated by Chemistry students for the 'James Moir Medal', awarded annually to the top BSc (Hons) or .... was elected President in that year he stated in his Presidential .... President of the Chemical Institute, Dr H.H. Green,11 for the.

  10. Shake, Rattle and Roll: James Webb Telescope Components Pass Tests

    Science.gov (United States)

    2008-01-01

    Mike Ressler (right) and Kalyani Sukhatme of JPL pose in the clean room with a model component, called a focal plane module, of the Mid-Infrared Instrument on NASA's James Webb Space Telescope. Ressler is the project scientist for the instrument, and Sukhatme is the project element manager for the instrument's focal plane module.

  11. The Genetic Psychologies of James Mark Baldwin and Jean Piaget.

    Science.gov (United States)

    Cahan, Emily D.

    1984-01-01

    Describes the ideas proposed by James Mark Baldwin which anticipated much of Jean Piaget's work. The goals, genetic approach, and epistemological assumptions underlying Piaget's inquiry into cognitive development found explicit statement in Baldwin's work. Discusses Baldwin's current importance for psychology. (Author/CB)

  12. 75 FR 13323 - James A. Fitzpatrick Nuclear Power Plant; Exemption

    Science.gov (United States)

    2010-03-19

    ... From the Federal Register Online via the Government Publishing Office NUCLEAR REGULATORY COMMISSION James A. Fitzpatrick Nuclear 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...

  13. 75 FR 16520 - James A. Fitzpatrick Nuclear Power Plant; Exemption

    Science.gov (United States)

    2010-04-01

    ... From the Federal Register Online via the Government Publishing Office NUCLEAR REGULATORY COMMISSION James A. Fitzpatrick Nuclear 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...

  14. 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…

  15. Implementation of hazard analysis critical control point in jameed production.

    Science.gov (United States)

    Al-Saed, A K; Al-Groum, R M; Al-Dabbas, M M

    2012-06-01

    The average of standard plate count and coliforms, Staphylococcus aureus and Salmonella counts for three home-made jameed samples, a traditional fermented dairy product, before applying hazard analysis critical control point system were 2.1 × 10(3), 8.9 × 10(1), 4 × 10(1) and less than 10 cfu/g, respectively. The developed hazard analysis critical control point plan resulted in identifying ten critical control points in the flow chart of jameed production. The critical control points included fresh milk receiving, pasteurization, addition of starter, water and salt, straining, personnel hygiene, drying and packaging. After applying hazard analysis critical control point system, there was significant improvement in the microbiological quality of the home-made jameed. The standard plate count was reduced to 3.1 × 10(2) cfu/g whereas coliform and Staphylococcus aureus counts were less than 10 cfu/g and Salmonella was not detected. Sensory evaluation results of color and flavor of sauce prepared from jameed showed a significant increase in the average scores given after hazard analysis critical control point application.

  16. James Abbot McNeill Whistler: "At the Piano."

    Science.gov (United States)

    Hallenberg, Heather

    1987-01-01

    "At the Piano," an oil-on-canvas painting completed in 1859 by James Abbot McNeill Whistler, is used as the basis of a lesson designed to help junior high school students analyze the painting's mood, subject matter, and composition. (JDH)

  17. Pestalozzi and James Pierrepont Greaves: A Shared Educational Philosophy.

    Science.gov (United States)

    Latham, Jackie E. M.

    2002-01-01

    Focuses on Johann H. Pestalozzi, James Pierrepont Greaves, and Reverend Charles Mayo. States that Greaves and Mayo disseminated Pestalozzi's ideas and techniques in England. Explains that Pestalozzi and Greaves trained elementary teachers to view students' talents and personal growth as a whole person concept. Argues less effort would limit…

  18. More than Mere Weather: James's Talks to Students about Life

    Science.gov (United States)

    Wight, Randall D.

    2003-01-01

    William James addressed the last 3 lectures in "Talks to Teachers on Psychology and to Students on Some of Life's Ideals" (1899/1958) specifically to students. The first of these lectures, "The Gospel of Relaxation," encouraged students to be both relaxed and active. The second, "On a Certain Blindness in Human Beings," promoted awareness of and…

  19. Supporting Progressive Change: The James R. Squire Office of Policy Research

    Science.gov (United States)

    Farrell, Edmund J.

    2004-01-01

    The NCTE has established a center of policy research to honor the legacy of James R. Squire in order to support progressive reform in English language arts education. James R. Squire's life and work are discussed in detail.

  20. Proceedings from the Turner Resource Network symposium: the crossroads of health care research and health care delivery.

    Science.gov (United States)

    Backeljauw, Philippe F; Bondy, Carolyn; Chernausek, Steven D; Cernich, Joseph T; Cole, David A; Fasciano, Laura P; Foodim, Joan; Hawley, Scott; Hong, David S; Knickmeyer, Rebecca C; Kruszka, Paul; Lin, Angela E; Lippe, Barbara M; Lorigan, Gary A; Maslen, Cheryl L; Mauras, Nelly; Page, David C; Pemberton, Victoria L; Prakash, Siddharth K; Quigley, Charmian A; Ranallo, Kelly C; Reiss, Allan L; Sandberg, David E; Scurlock, Cindy; Silberbach, Michael

    2015-09-01

    Turner syndrome, a congenital condition that affects ∼1/2,500 births, results from absence or structural alteration of the second sex chromosome. There has been substantial effort by numerous clinical and genetic research groups to delineate the clinical, pathophysiological, cytogenetic, and molecular features of this multisystem condition. Questions about the molecular-genetic and biological basis of many of the clinical features remain unanswered, and health care providers and families seek improved care for affected individuals. The inaugural "Turner Resource Network (TRN) Symposium" brought together individuals with Turner syndrome and their families, advocacy group leaders, clinicians, basic scientists, physician-scientists, trainees and other stakeholders with interest in the well-being of individuals and families living with the condition. The goal of this symposium was to establish a structure for a TRN that will be a patient-powered organization involving those living with Turner syndrome, their families, clinicians, and scientists. The TRN will identify basic and clinical questions that might be answered with registries, clinical trials, or through bench research to promote and advocate for best practices and improved care for individuals with Turner syndrome. The symposium concluded with the consensus that two rationales justify the creation of a TRN: inadequate attention has been paid to the health and psychosocial issues facing girls and women who live with Turner syndrome; investigations into the susceptibility to common disorders such as cardiovascular or autoimmune diseases caused by sex chromosome deficiencies will increase understanding of disease susceptibilities in the general population.

  1. 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

  2. 76 FR 78939 - James Campbell National Wildlife Refuge, Honolulu County, HI; Final Comprehensive Conservation...

    Science.gov (United States)

    2011-12-20

    ... Fish and Wildlife Service James Campbell National Wildlife Refuge, Honolulu County, HI; Final...) and a finding of no significant impact for the environmental assessment for the James Campbell... . Email: FW1PlanningComments@fws.gov . Include ``James Campbell Refuge CCP'' in the subject line of the...

  3. 76 FR 38414 - James Campbell National Wildlife Refuge, Honolulu County, HI; Draft Comprehensive Conservation...

    Science.gov (United States)

    2011-06-30

    ... Fish and Wildlife Service James Campbell National Wildlife Refuge, Honolulu County, HI; Draft... CCP/EA) for the James Campbell National Wildlife Refuge (Refuge), for public review and comment. The... it by any of the following methods. E-mail: FW1PlanningComments@fws.gov . Include ``James Campbell...

  4. 78 FR 50458 - Entergy Nuclear Operations, Inc., James A. Fitzpatrick Nuclear Power Plant, Vermont Yankee...

    Science.gov (United States)

    2013-08-19

    ... COMMISSION Entergy Nuclear Operations, Inc., James A. Fitzpatrick Nuclear Power Plant, Vermont Yankee Nuclear... petitioners'') has requested that the NRC take action with regard to James A. Fitzpatrick Nuclear Power Plant... with regard to James A. Fitzpatrick Nuclear Power Plant (Fitzpatrick), Vermont Yankee Nuclear...

  5. "The Bravest of the Brave": A Conversation with Mary Bitterman and James Narduzzi

    Science.gov (United States)

    Continuing Higher Education Review, 2008

    2008-01-01

    This article presents an interview with Mary Bitterman and James Narduzzi. Mary Bitterman, former President and CEO of The James Irvine Foundation, is President of The Bernard Osher Foundation and Immediate Past Chairman of the Public Broadcasting Service (PBS). James Narduzzi is Dean of the University of Richmond's School of Continuing Studies.…

  6. 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.

  7. 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.

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

    Energy Technology Data Exchange (ETDEWEB)

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

    1985-02-01

    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.

  9. Brachial neuritis or Parsonage-Turner syndrome: A problem of liability. A presentation of 3 cases.

    Science.gov (United States)

    Rodríguez-Hornillo, M; de la Riva, M C; Ojeda, R

    2016-01-01

    Neuralgic amyotrophy, brachial neuritis or Parsonage-Turner syndrome is a rare neuromuscular involvement of unknown aetiology. When it onsets in connection with a health care act, such as childbirth or surgery, a malpractice argument is often used as a cause of adverse outcome, usually due to an incorrect position of the patient on the operating table, a circumstance which directly involves the anesthesia area. Three cases are presented of Parsonage-Turner syndrome following very different surgery, with different results as regards prognosis. A review and discussion of bibliography is presented on the possibility that such circumstances are the subject of malpractice claims. Special emphasis is placed on the most currently accepted aetiopathogenic theories, and the relationship of this syndrome with the surgical act as a determining medico-legal aspect. Valuation parameters are proposed.

  10. False aneurysm on distal part of coarctation of the aorta in a parous Turner syndrome patient.

    Science.gov (United States)

    Oi, Keiji; Yoshida, Tetsuya; Takeshita, Masashi; Tsuruta, Goro

    2013-09-01

    False aneurysm associated with untreated coarctation of the aorta (CoA) is an uncommon vascular complication. We present a 41-year-old woman with mosaic Turner syndrome who had CoA complicated with a small false aneurysm on descending aorta just distal to the coarctation. The patient had not been diagnosed with Turner syndrome despite several physical characteristics of the syndrome because she had histories of natural childbirth. The false aneurysm was resected with the coarctation through a thoracotomy and proximal aorta was directly anastomosed to distal aorta. Endovascular therapy has become preferred method in recent years in treatment for coarctation of the aorta. However, careful consideration should be given to the irregularities on the aorta with the coarctation for diagnosis of false aneurysm.

  11. Down syndrome, Turner syndrome, and Klinefelter syndrome: primary care throughout the life span.

    Science.gov (United States)

    Tyler, Carl; Edman, Jennifer C

    2004-09-01

    Down syndrome, Turner syndrome, and Klinefelter syndrome constitute the most common chromosomal abnormalities encountered by primary care physicians. Down syndrome typically is recognized at birth, Turner syndrome often is not recognized until adolescence,and many men with Klinefelter syndrome are never diagnosed. Although each syndrome is caused by an abnormal number of chromosomes, or aneuploidy, they are distinct syndromes with learning disabilities and a predisposition toward autoimmune diseases,endocrinologic disorders, and cancers. Optimal health care requires a thorough knowledge of the unique health risks, psychoeducational needs, functional capabilities, and phenotypic variation associated with each condition. Syndrome-specific health care should complement standard preventive health care recommendations. Checklists and syndrome-specific growth grids should be used. Ongoing communication between specialists and primary care physicians and between pediatric and adult clinicians is essential. Support groups and Internet resources can benefit affected individuals and their families immensely.

  12. An Unusual Occurrence of Hepatic Granulomas and Secondary Sitosterolemia in Turner Syndrome

    Directory of Open Access Journals (Sweden)

    JayaKrishna Chintanaboina

    2015-01-01

    Full Text Available Although abnormal liver function tests occur in 50–80% of cases with Turner syndrome, there are no previous reports of overt hepatic disease or hepatic granulomas associated with Turner’s syndrome. We report three cases of Turner syndrome associated with hepatic granulomas with a wide range of liver dysfunction. Of the three patients, first patient underwent liver transplantation; second patient remained stable on immunosuppressants; and third patient died from complications of decompensated liver cirrhosis as she declined liver transplantation due to multiple comorbidities. One patient had sitosterolemia, a rare inherited autosomal recessive disorder of cholesterol metabolism, after she ingested β-sitosterol supplement and had worsening liver function tests and lipid panel. She had remarkably abnormal lipid panel that responded to ezetimibe and by stopping the β-sitosterol supplement.

  13. Abnormal Methylation Status of the GNAS Exon 1A Region in Pseudohypohyperparathyroidism Combined With Turner Syndrome.

    Science.gov (United States)

    Zhu, Jie; Wang, Dong; Ren, An; Xing, Yan; Zhang, Dongliang; Wei, Jun; Yu, Ning; Xing, Xuenong; Ye, Shandong

    2015-12-01

    Pseudohypohyperparathyroidism (PHHP) is a rare type of pseudohypoparathyroidism (PHP), which seems to have a normal skeletal response to parathyroid hormone but shows renal resistance. Almost all patients with PHHP have PHP Ib, a subtype of PHP that is usually caused by GNAS methylation defects, often in exon 1A. Some features of Albright hereditary osteodystrophy can occasionally be found in patients with PHHP, but these features are also common in Turner syndrome. The authors report on an extremely rare case of a patient with PHHP and Turner syndrome, a 47-year-old woman who sought medical attention for hypocalcemia and elevated parathyroid hormone. She had no family history of hypocalcemia and no STX16 gene deletions. She had a mosaic karyotype of 46, X, del(X)(p11.4)/45, XO. Pyrosequencing was performed to determine the GNAS exon 1A methylation. The degree of methylation found in exon 1A of the patient was lower than her unaffected relatives.

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

    Science.gov (United States)

    Manassero-Morales, Gioconda; Alvarez-Manassero, Denisse; Merino-Luna, Alfredo

    2016-01-01

    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.

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

    Science.gov (United States)

    Alvarez-Manassero, Denisse; Merino-Luna, Alfredo

    2016-01-01

    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. PMID:27672470

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

    Directory of Open Access Journals (Sweden)

    Михаил Михайлович Камоско

    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.

  17. Growth hormone secretion in Turner's syndrome and influence of oxandrolone and ethinyl oestradiol.

    OpenAIRE

    Massarano, A A; Brook, C G; Hindmarsh, P C; Pringle, P J; Teale, J D; Stanhope, R; Preece, M A

    1989-01-01

    We investigated 24 hour growth hormone secretion by intermittent 20 minute blood sampling in 34 prepubertal patients with Turner's syndrome, aged 4.3-12.4 years. Growth hormone profiles were analysed by the PULSAR programme and results expressed as the sum of growth hormone pulse amplitudes. Six patients had abnormal growth hormone pulse frequencies. In the remaining 28, growth hormone pulse amplitudes declined significantly with increasing age, but there was no correlation between growth hor...

  18. 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.

  19. Influence of the X-Chromosome on Neuroanatomy: Evidence from Turner and Klinefelter Syndromes

    OpenAIRE

    2014-01-01

    Studies of sex effects on neurodevelopment have traditionally focused on animal models investigating hormonal influences on brain anatomy. However, more recent evidence suggests that sex chromosomes may also have direct upstream effects that act independently of hormones. Sex chromosome aneuploidies provide ideal models to examine this framework in humans, including Turner syndrome (TS), where females are missing one X-chromosome (45X), and Klinefelter syndrome (KS), where males have an addit...

  20. 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

  1. Ductal carcinoma In-Situ in turner syndrome patient undergoing hormone replacement therapy: A case report

    Directory of Open Access Journals (Sweden)

    Rashmi Bawa

    2016-03-01

    Full Text Available Turner’s syndrome is a rare congenital disease which affects about 1 in every 2500-3000 live-born females. This happens due to chromosomal abnormalities in a phenotypic female, causing increased gonadotropin concentrations and low concentrations of estrogens from infancy. As a result, hormone replacement therapy is started in most adolescent Turner syndrome patients to initiate and sustain sexual maturation. Accordingly, most Turner’s syndrome patients undergo several decades of estrogen replacement therapy, from puberty to post-menopausal age. The highly publicized findings of the Women’s Health Initiative have called into question the appropriateness of hormone replacement therapy in adolescents with Turner’s syndrome. Those concerns were mostly theoretical extrapolations, as few prospective studies of cancer occurrence in women with Turner syndrome have been reported. Consequently, several recent publications have challenged those extrapolations, based on the assertion that the levels of hormone replacement in Turner syndrome patients are well below the physiologic levels observed in normal menstruating women, as well as the fact that these women are significantly younger than those studied by the Women’s Health Initiative. In discord to those reports, we present a case of ductal carcinoma in-situ in a 40-year-old Turner patient, who had undergone over two decades of combined hormone replacement therapy. The patient underwent an elective excisional biopsy for a palpable mass, with histopathology revealing a complex fibroadenoma with a nidus of ductal carcinoma in-situ. The lesion was noted to be estrogen receptor positive and progesterone receptor negative, with heavy staining for HER-2/Neu receptor. The patient was treated with tamoxifen. While a rare case, it is imperative for the astute clinician to keep in mind the consequences of long-term hormone replacement therapy in Turner’s syndrome patients in order to avoid missed

  2. [Turner syndrome and monosomy 1p36 deletion syndrome misdiagnosed as thyropenia: report of one case].

    Science.gov (United States)

    Meng, Xubiao; Li, Zhiming; Liu, Tingting; Wen, Zhiming

    2013-12-01

    A 21-year-old woman with a short stature presented with primary amenorrhoea and a 45X karyotype, and comparative genomic hybridization revealed 1p36 deletion and abnormal genes in multiple chromosomes to support the diagnosis of Turner syndrome and monosomy 1p36 deletion syndrome. The main clinical features of this condition include microsomia, poor sexual development, menoschesis, gigantorectum, absence of internal genitalia, sometimes with thyropenia and low intelligence. This disease can be easily diagnosed for its heterogeneous clinical manifestations.

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

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    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. Progress in Turner syndrome%Turner综合征研究进展

    Institute of Scientific and Technical Information of China (English)

    金华盛

    2012-01-01

    Turner Syndrome is a sex chromosome disease associated with loss of an entire sex chromosome or a portion of the X chromosome containing the tip of its short arm.The common clinical features are short stature,cardiovascular disease and gonadal dysgenesis.Short stature is due to the impaired response to endogenous GH and SHOX ( short-stature homeobox ) haploinsufficiency.Congenital heart disease and coronary heart disease,especially the aortic aneurysm,made higher mortality in Turner syndrome.Treatment for short stature are GH and treatment for gonadal dysgenesis is gonadal hormone replacement.New studies demonstrated that adult height could be maximized if GH therapy begun at a young age with early,ultra-low-dose estrogen in girls with Turner syndrome.%Turner综合征(Turner syndrome,TS)是性染色体数目或结构异常所致的性染色体病.其临床症状主要包括生长迟滞、心血管疾病、性腺发育不全等.内源性生长激素的反应受损,以及矮身材同源结构域包含基因的单倍体剂量不足共同导致了生长迟滞.先天性心脏病和早发的冠心病,尤其是主动脉夹层瘤增加了TS的病死率.针对患者生长迟滞和性腺发育不全的治疗方法主要是生长激素刺激生长和雌激素诱导替代;尽早进行生长激素治疗和早期低剂量雌激素治疗,可使TS患者的成年终身高达最大化.

  5. A small supernumerary marker chromosome present in a Turner syndrome patient not derived from X- or Y-chromosome: a case report

    OpenAIRE

    Vermeesch Joris; Andrieux Joris; Desai Manisha; Sheth Jayesh; Weise Anja; Kosyakova Nadezda; Ewers Elisabeth; Sheth Frenny; Hamid Ahmed B; Ziegler Monika; Liehr Thomas

    2009-01-01

    Abstract Background Small supernumerary marker chromosomes (sSMC) can be present in numerically abnormal karyotypes like in a 'Turner-syndrome karyotype' mos 45,X/46,X,+mar. Results Here we report the first case of an sSMC found in Turner syndrome karyotypes (sSMCT) derived from chromosome 14 in a Turner syndrome patient. According to cytogenetic and molecular cytogenetic characterization the karyotype was 46,X,+del(14)(q11.1). The present case is the third Turner syndrome case with an sSMCT ...

  6. The lymphatic phenotype in Turner syndrome: an evaluation of nineteen patients and literature review.

    Science.gov (United States)

    Atton, Giles; Gordon, Kristiana; Brice, Glen; Keeley, Vaughan; Riches, Katie; Ostergaard, Pia; Mortimer, Peter; Mansour, Sahar

    2015-12-01

    Turner syndrome is a complex disorder caused by an absent or abnormal sex chromosome. It affects 1/2000-1/3000 live-born females. Congenital lymphoedema of the hands, feet and neck region (present in over 60% of patients) is a common and key diagnostic indicator, although is poorly described in the literature. The aim of this study was to analyse the medical records of a cohort of 19 Turner syndrome patients attending three specialist primary lymphoedema clinics, to elucidate the key features of the lymphatic phenotype and provide vital insights into its diagnosis, natural history and management. The majority of patients presented at birth with four-limb lymphoedema, which often resolved in early childhood, but frequently recurred in later life. The swelling was confined to the legs and hands with no facial or genital swelling. There was only one case of suspected systemic involvement (intestinal lymphangiectasia). The lymphoscintigraphy results suggest that the lymphatic phenotype of Turner syndrome may be due to a failure of initial lymphatic (capillary) function.

  7. 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.

  8. Variant Turner Syndrome With 46, X, i(Xq Karyotype: A Case Report

    Directory of Open Access Journals (Sweden)

    Mahmut Balkan

    2005-01-01

    Full Text Available Case was 14 years-old girl having complaints of growth retardations and primary amenorrhea. In the physical and gynecological examinations; her height and weight were 130 cm and 45 kg, respectively and secondary sex characteristics were infantile and hymen annular was intact and the depth of vagina was 7 cm and, palpitate of pelvis was empty. The case did not show broad chest, neck webbing and low posterior hairline. Uterus dimensions were 11x7x4 mm and ovaries were not seen in ultrasonographyic examination. Karyotypes in the peripheral blood cells were variant Turner Syndrome with isochromosome Xq constitution; 46,X, i(Xq, so made detailed laboratory analysis. She had high plasma gonadotropin and low estradiol and progesterone and slightly high plasma TSH and slightly low free T3 and T4 hormone levels. Ultrasonography showed that thyroid was diffuse. Insulin and growth hormone levels were normal. The bone age was 10-11 year and compatible with her age. IQ test in the patient was found the normal. In the variant turner syndrome, clinic table was slighter than Classic Turner Syndrome as in our case.

  9. Plasma exchange in Goodpasture syndrome associated with Turner's syndrome: A case report.

    Science.gov (United States)

    Jiao, L P; Fan, J F; Sun, Q; Shen, Y

    2012-12-01

    Good pasture syndrome (GPS) has been paid much attention recently for the dangerous illness and high mortality. To investigate the efficiency of plasma exchange (PE) to treat Goodpasture syndrome (GPS) in children associated with Turner's syndrome. We report a case of a 15 year old female with GPS and Turner's syndrome. The patient has intermittent fever and cough for 45 days and oliguria for 6 days. Turner's syndrome was determined through blood karyotype analysis, and GPS was diagnosed because the patient was negative for antinuclear antibodies and antineutrophil cytoplasmic antibodies (ANCA), but positive for anti-glomerular basement membrane (anti-GBM) antibodies (200 RU/ml). PE was carried out in combination with immunosuppression therapy. The results show PE treatment can efficiently decrease the levels of anti-GBM antibodies. The antibody levels were >200 RU/ml and 184 RU/ml before and after the first PE treatment, respectively. The removal efficiency were 40%, 47%, 42%, 54%, 52% for the fifth, sixth, seventh, eighth and ninth PE procedures, respectively. The therapy with PE, hemodialysis, pulse methylprednisolone followed by oral prednisone and cyclophosphamide greatly contributed to improvement of this patient's condition, and resolved the patient's pulmonary haemorrhage. All these results demonstrate that PE contributed efficiently to the treatment for GPS in children.

  10. 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

  11. James Clerk Maxwell: Life and science

    Science.gov (United States)

    Marston, Philip L.

    2016-07-01

    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.

  12. 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

  13. Royce's community; a dimension missing in Freud and James?

    Science.gov (United States)

    Oppenheim, F M

    1977-04-01

    Josiah Royce (1855-1916), philosopher of community, taught that social consciousness arises from ego-alter contrasts and is guided by taboos and, before George H. Mead, by reciprocal gestures. A major Roycean contribution was his five conditions for coexperiencing consciousness of genuine community. Related to Freud (via Putnam), Royce did early work on "identification theory" and helped midwife psychotherapy's birth in America. Contrasting with William James's basic differentiation of consciousness according to the quality of its contents (feeling, thought, and conduct), Royce preferred a norm of increasing self-agency (shown in sensitivity, docility, and initiative). The temperaments of James as artist and of Royce as rational interpreter differentiated their approaches to psychology.

  14. PENGALAMAN BERSUA TUHAN: PERSPEKTIF WILLIAM JAMES DAN AL-GHAZALI

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    Komarudin Komarudin

    2012-12-01

    Pengalaman bersua Tuhan merupakan fenomena yang menarik dan menjadi titik perhatian banyak disiplin ilmu. Psikologi dan tasawuf merupakan dua disiplin ilmu yang memfokuskan kajiannya pada fenomena ini dengan menerapkan pendekatan yang berbeda. Ghazali adalah representasi dari disiplin ilmu tasawuf dan William James adalah representasi disiplin ilmu psikologi. Kedua ahli tersebut menggunakan pendekatan yang berbeda dalam mengkaji pengalaman keagamaan. Basis epistimologi yang digunakan oleh James memiliki akuntabilitas ilmiah namun kurang akurat dalam sumber pengetahuannya. Di sisi lain Ghazali memiliki sumber pengetahuan yang dalam namun kurang dari sisi rasionalitas. Upaya untuk mengkompromikan kedua pendekatan dalam rangka untuk mengkaji pengalaman bersua Tuhan akan menghasilkan penggambaran yang dalam dan obyektif.

  15. ACTA Technology Presents EPA with Patent Copy

    Science.gov (United States)

    US EPA SBIR awardee, ACTA Technology, presented James H. Johnson, Director of the US EPA National Center for Environmental Research, and April Richards, Program Manager of the US EPA's SBIR Program, with a copy of their Red Ribbon patent.

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

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    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. Molecular Biologists:James Watson and Francis Crick

    Institute of Scientific and Technical Information of China (English)

    李琳

    2006-01-01

    On Feb. 28, 1953, Francis Crick walked into the Eagle pub in Cambridge, England, and, as James Watson later recalled, announced that "we had found the secret of life. " Actually, they had. That morning, Watson and Crick had figured out the structure of deoxyribonucleic acid, DNA. And that structure-a "double helix" that can "unzip" to make copies of itself-confirmed suspicions that DNA carries life ’ s hereditary information.

  18. The Auld Bollocks, or, James Kelman's Masculine Utopics

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    Dougal McNeill

    2012-10-01

    Full Text Available This article examines the treatment of male sexuality in James Kelman’s fiction, paying particular attention to his frequent representations of and reflections on masturbation and sexual loneliness. As part of an extended appreciation and critique of the recent criticism of Carole Jones, this article argues that, whilst Kelman’s representations of male sexuality involve an assault on traditional masculine gender norms, they also contain utopian elements, ones neglected in Kelman scholarship to date.

  19. James Cahill and the Study of Chinese Painting’

    Directory of Open Access Journals (Sweden)

    Zaixin Hong

    2014-06-01

    Full Text Available James Cahill was a leading scholar in the field of Chinese painting studies through his influential teaching and most original and prolific writings. From a global, verbal, and visual perspective, this essay examines how significantly he has challenged and thereby enriched the extant art scholarships in China and the West, and what an enduring legacy he has left behind him in the art historiography.

  20. 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

  1. 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.

  2. 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

  3. 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 i

  4. [Stimulation test of the adenohypophysis with arginine, gonadotropin-releasing hormone (GRH), and thyrotropin-releasing hormone (TRH) in 45, XO patients with Turner's syndrome (author's transl)].

    Science.gov (United States)

    Rudolf, K; Kyank, H; Göretzlehner, G; Kunkel, S

    1980-01-01

    Pituitary stimulation tests with arginine, gonadotropin-releasing hormone (GRH) and thyrotropin-releasing hormone (TRH) were performed in five 45, XO patients with Turner's syndrome. Their ages ranged from 12--17 years. Serum levels of LH, FSH, PRL, HGH, and TSH were measured by RIA. The hypothalamo-pituitary system appeared normal in the patients with Turner's syndrome.

  5. Progress for the Diagnosis and Management of Turner's Syndrome%Turner's Syndrome产前诊断和治疗进展

    Institute of Scientific and Technical Information of China (English)

    李承慧; 师振华; 金毓翠

    2002-01-01

    脱纳氏综合征(turner's syndrome,TS)是比较常见的染色体疾病,性染色体X的部分或完全缺失或镶嵌型是本病的基本病因.身材矮小和性腺发育不全是其主要临床特征.如从儿童时代起及时应用生长激素(GH)有效改善身长高度,适时采用雌激素诱导青春期发育,TS的成年妇女用HRT等综合治疗对TS的女孩和妇女改善生活质量是非常重要的,而对卵巢无功能者可作人工授精和试管婴儿.

  6. 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.

  7. James Webb Space Telescope: The First Light Machine

    Science.gov (United States)

    Stahl, H. Philip

    2014-01-01

    NASA James Webb Space Telescope (JWST) will search for the first luminous objects of the Universe to help answer fundamental questions about how the Universe came to look like it does today. At 6.5 meters in diameter, JWST will be the world's largest space telescope. Its architecture, e.g. aperture, wavelength range and operating temperature, is driven by JWST's science objectives. Introduction: Scheduled to start its 5 year mission after 2018, JWST will study the origin and evolution of galaxies, stars and planetary systems. Its science mission is to: Identify the first bright objects that formed in the early Universe, and follow the ionization history. Determine how galaxies form. Determine how galaxies and dark matter, including gas, stars, metals, overall morphology and active nuclei evolved to the present day. Observe the birth and early development of stars and the formation of planets. And, study the physical and chemical properties of solar systems for the building blocks of Life. Principle: To accomplish the JWST science objectives requires a larger aperture infrared cryogenic space telescope. A large aperture is required because the objects are very faint. The infrared spectral range is required because the objects are so far away that their ultraviolet and visible wavelength spectral lines are red-shifted into the infrared. Because the telescope is infrared, it needs to be cryogenic. And, because of the telescope is infrared, it must operate above the Earth's atmosphere, i.e. in space. JWST is probably the single most complicated mission that humanity has attempted. It is certainly the most difficult optical fabrication and testing challenge of our generation. The JWST 6.5 m diameter primary mirror is nearly a parabola with a conic constant of -0.9967 and radius of curvature at 30K of 15.880 m. The primary mirror is divided into 18 segments with 3 different prescriptions; each with its own off-axis distance and aspheric departure. The radius of curvature

  8. 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.

  9. A small supernumerary marker chromosome present in a Turner syndrome patient not derived from X- or Y-chromosome: a case report

    Directory of Open Access Journals (Sweden)

    Vermeesch Joris

    2009-11-01

    Full Text Available Abstract Background Small supernumerary marker chromosomes (sSMC can be present in numerically abnormal karyotypes like in a 'Turner-syndrome karyotype' mos 45,X/46,X,+mar. Results Here we report the first case of an sSMC found in Turner syndrome karyotypes (sSMCT derived from chromosome 14 in a Turner syndrome patient. According to cytogenetic and molecular cytogenetic characterization the karyotype was 46,X,+del(14(q11.1. The present case is the third Turner syndrome case with an sSMCT not derived from the X- or the Y-chromosome. Conclusion More comprehensive characterization of such sSMCT might identify them to be more frequent than only ~0.6% in Turner syndrome cases according to available data.

  10. 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

  11. Double aneuploidy in three Egyptian patients: Down-Turner and Down-Klinefelter syndromes.

    Science.gov (United States)

    Zaki, M S; Kamel, A A; El-Ruby, M

    2005-01-01

    The co-occurrence of two numerical chromosomal abnormalities in same individual (double aneuploidy) is relatively rare and its clinical presentations are variable depending on the predominating aneuploidy or a combination effect of both. Furthermore, double aneuploidy involving both autosomal and sex chromosomes is seldom described. In this study, we present three patients with double aneuploidy involving chromosome 21 and sex chromosomes. They all had the classical non disjunction trisomy 21; that was associated with monosomy X in two of them and double X in the other. Clinically, they had most of the phenotypic features of Down syndrome as well as variable features characteristic of Turner or Klinefelter syndrome. Cytogenetic studies and fluorescence in situ hybridization (FISH) analysis were carried out for all patients and their parents. The first patient was a male, mosaic with 2 cell lines (45,X/47,XY,+21) by regular banding techniques and had an affected sib with Down syndrome (47,XY,+21). The second was a female, mosaic (46,X,+21/47,XX,+21) where monosomy X was detected only by FISH in 15 percentages of cells, nevertheless, stigmata of Turner syndrome was more obvious in this patient. The third patient had non mosaic double trisomy; Down-Klinefelter (48,XXY,+21) presented with Down syndrome phenotype. Parental karyotypes and FISH studies for these patients were normal with no evidence of mosaicism. In this report, we review the variable clinical presentations among the few reported cases with the same aneuploidy in relation to ours. Also, the proposed mechanisms of double aneuploidy and the occurrence of non-disjunction in more than one family member are discussed. This study emphasizes the importance of molecular cytogenetics studies for more than one tissue in cases with atypical features of characteristic chromosomal aberration syndromes. To our knowledge, this is the first report of double aneuploidy, Down-Turner and Down-Klinefelter syndromes in

  12. Cryptic mosaicism involving a second chromosome X in patients with Turner syndrome

    Directory of Open Access Journals (Sweden)

    A. Araújo

    2008-05-01

    Full Text Available The high abortion rate of 45,X embryos indicates that patients with Turner syndrome and 45,X karyotype could be mosaics, in at least one phase of embryo development or cellular lineage, due to the need for the other sex chromosome presence for conceptus to be compatible with life. In cases of structural chromosomal aberrations or hidden mosaicism, conventional cytogenetic techniques can be ineffective and molecular investigation is indicated. Two hundred and fifty patients with Turner syndrome stigmata were studied and 36 who had female genitalia and had been cytogenetically diagnosed as having "pure" 45,X karyotype were selected after 100 metaphases were analyzed in order to exclude mosaicism and the presence of genomic Y-specific sequences (SRY, TSPY, and DAZ was excluded by PCR. Genomic DNA was extracted from peripheral blood and screened by the human androgen receptor (HUMARA assay. The HUMARA gene has a polymorphic CAG repeat and, in the presence of a second chromosome with a different HUMARA allele, a second band will be amplified by PCR. Additionally, the CAG repeats contain two methylation-sensitive HpaII enzyme restriction sites, which can be used to verify skewed inactivation. Twenty-five percent (9/36 of the cases showed a cryptic mosaicism involving a second X and approximately 14% (5/36, or 55% (5/9 of the patients with cryptic mosaicism, also presented skewed inactivation. The laboratory identification of the second X chromosome and its inactivation pattern are important for the clinical management (hormone replacement therapy, and inclusion in an oocyte donation program and prognostic counseling of patients with Turner syndrome.

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

    DEFF Research Database (Denmark)

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

    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......-average=-0.312 and -0.341; pperturbed sympatho-vagal balance is present in TS explained by a decreased vagal activity...

  14. Major depressive disorder in an adolescent with Turner syndrome: a case report.

    Science.gov (United States)

    Mao, Shujiong; Sun, Liying; Li, Rong; Zhao, Zhengyan; Yang, Rongwang

    2016-01-01

    Turner syndrome (TS) is a chromosomal abnormality, of which the presence and impact of coexisting psychiatric morbidity has received little attention. The present report describes an adolescent with mosaic karyotype TS who had major depressive disorder with the predisposing cause of psychosocial burden, and relieved with the treatment of sertraline and complete remission with combined use of estradiol valerate. The report suggests us to pay more attention on the mood disorders in children with TS, especially in adolescents. For treatment aspect, medications for improving the puberty development and short stature should be added to in addition to antidepressants if they had mood disorders.

  15. 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.

  16. Management of Klippel-Feil syndrome combined with Turner syndrome: a case report.

    Science.gov (United States)

    Park, Jae Hyun; Tai, Kiyoshi; Sato, Yasumori

    2013-01-01

    A 12-year-old female with Klippel-Feil syndrome (KFS) combined with Turner syndrome (TS) and a submucous cleft palate (CP) was presented. The patient reportedly had TS and had received growth hormone (GH) therapy. Because of her skeletal Class III pattern with a steep mandibular plane angle, facial asymmetry, and fused cervical vertebrae, the effects of the GH on her craniofacial complex needed to be considered at the start of orthopedic/orthodontic treatment. To manage submucous CP with severe maxillary deficiency, a rigid external distraction (RED) device was used. The total active treatment time was 34 months including distraction osteogenesis (DO). Treatment improved both her occlusion and facial appearance.

  17. Turner Syndrome with 45,X/46,XY mosaicism underwent gonadectomy: Report of 3 cases

    OpenAIRE

    Tokmak, Aytekin; Akselim, Burak; Yeşilyurt, Hüseyin

    2015-01-01

    Turner syndrome (TS) classically is characterized by complete or partial absence of one X chromosome. A Y chromosome can be detected in some of the TS patients called mosaicism. In this study we report three cases of TS with a female phenotype and a 45,X/46,XY karyotype. All of the cases were referred or applied to our hospital for gonadectomy at third decade of their lives. They had many of the stigmata of TS. We performed gonadectomy to our patients. In one of them histopathology was sugges...

  18. Unreliability of aortic size index to predict risk of aortic dissection in a patient with Turner syndrome

    Science.gov (United States)

    Nijs, Jan; Gelsomino, Sandro; Lucà, Fabiana; Parise, Orlando; Maessen, Jos G; Meir, Mark La

    2014-01-01

    Aortic size index (ASI) has been proposed as a reliable criterion to predict risk for aortic dissection in Turner syndrome with significant thresholds of 20-25 mm/m2. We report a case of aortic arch dissection in a patient with Turner syndrome who, from the ASI thresholds proposed, was deemed to be at low risk of aortic dissection or rupture and was not eligible for prophylactic surgery. This case report strongly supports careful monitoring and surgical evaluation even when the ASI is < 20 mm/m2 if other significant risk factors are present. PMID:24944765

  19. Ullrich-Turner phenotype with unusual manifestation in a patient with mosaicism 45,X/47,XX,+18

    Energy Technology Data Exchange (ETDEWEB)

    Franceschini, P.; Guala, A.; Camerano, P.; Franceschini, D.; Vardeu, M.P.; Signorile, F. [Universita di Torino (Italy)

    1996-03-01

    We report on a girl with Ullrich-Turner phenotype and 45,X/47,XX,+18 chromosomal mosaicism. Only two other patients with similar mosaicism have been reported, both girls with XY sex chromosome constitution. The face of the patient was highly asymmetric, the right side being almost normal, the left showing a typical Ullrich-Turner syndrome appearance. This clinical impression was strengthened by photographic doubling of both hemifaces. The patient had normal intelligence and did not show any stigmata of trisomy 18. 13 refs., 2 figs., 1 tab.

  20. 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 and microar......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...

  1. 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

  2. Cryopreservation of ovarian tissue and in vitro matured oocytes in a female with mosaic Turner syndrome: Case Report.

    Science.gov (United States)

    Huang, J Y J; Tulandi, T; Holzer, H; Lau, N M; Macdonald, S; Tan, S L; Chian, R C

    2008-02-01

    We report a novel approach of fertility preservation in a young woman with mosaic Turner syndrome. A 16-year-old female with 20% 45XO and 80% 46XX karyotype underwent laparoscopic ovarian wedge resection. Before performing ovarian tissue cryopreservation, all visible follicles on the ovarian surface were aspirated. We recovered 11 immature germinal vesicle stage oocytes, which were subjected to in vitro maturation (IVM). Eight oocytes that matured (73% maturation rate) were cryopreserved by vitrification. The combination of ovarian tissue cryobanking and immature oocyte collection from the tissue followed by IVM and vitrification of matured oocytes represent a promising approach of fertility preservation for young women with mosaic Turner syndrome.

  3. Clorinda Matto de Turner and Nísia Floresta: Pioneer Female Writers of Indigenism in Latin America

    OpenAIRE

    Simon da Silva, Regina

    2015-01-01

    In this paper I examine the novel Aves sinnido (1889), written by Peruvian authorClorinda Matto de Turner, recognized bythe critics as a precursor of Latin Americanindigenism, as well as the poem Alágrima de um Caeté [A tear of a Caeté](1849) of the Brazilian writer Nísia Floresta.I suggest that the Floresta’s work isa precursor of indigenism in Brazil, evenbefore the work of Matto de Turner. Ialso propose Floresta as one of the firstwriters who developed an approach toLatin American indigeni...

  4. Capabilities of the James Webb Space Telescope for Exoplanet Science

    Science.gov (United States)

    Clampin, Mark

    2009-01-01

    The James Webb Space Telescope (JWST) is a large aperture (6.5 meter), cryogenic space telescope with a suite of near and mid-infrared instruments covering the wavelength range of 0.6 m to 28 m. JWST s primary science goal is to detect and characterize the first galaxies. It will also study the assembly of galaxies, star formation, and the formation of evolution of planetary systems. We also review the expected scientific performance of the observatory for observations of exosolar planets by means of transit photometry and spectroscopy, and direct coronagraphic imaging.

  5. Introduktion til James Paul Gee: Hvad er literacy?

    DEFF Research Database (Denmark)

    Heiden, Thomas Roed

    2016-01-01

    Thomas Roed Heiden, adjunkt, cand.pæd giver her en introduktion til artiklen og de vigtigste begreber i denne. Ifølge Thomas Roed Heiden tilbyder What is literacy? en relevant forklaringsramme for, hvorfor man oplever bestemte elevers væren og gøren på bestemte måder, og hvordan man som didaktike...... kan have indflydelse på dette, gennem sin egen væren og gøren. Derfor er James Paul Gees tanker særligt relevante i en lærer- eller pædagogfaglig professionskontekst....

  6. 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.

  7. EMC Test Challenges for NASA's James Webb Space Telescope

    Science.gov (United States)

    McCloskey, John

    2016-01-01

    This presentation describes the electromagnetic compatibility (EMC) tests performed on the Integrated Science Instrument Module (ISIM), the science payload of the James Webb Space Telescope (JWST), at NASAs Goddard Space Flight Center (GSFC) in August 2015. By its very nature of being an integrated payload, it could be treated as neither a unit level test nor an integrated spacecraft observatory test. Non-standard test criteria are described along with non-standard test methods that had to be developed in order to evaluate them. Results are presented to demonstrate that all test criteria were met in less than the time allocated.

  8. EMC Test Challenges for NASAs James Webb Space Telescope

    Science.gov (United States)

    McCloskey, John

    2016-01-01

    This presentation describes the electromagnetic compatibility (EMC) tests performed on the Integrated Science Instrument Module (ISIM), the science payload of the James Webb Space Telescope (JWST), at NASAs Goddard Space Flight Center (GSFC) in August 2015. By its very nature of being an integrated payload, it could be treated as neither a unit level test nor an integrated spacecraft observatory test. Non-standard test criteria are described along with non-standard test methods that had to be developed in order to evaluate them. Results are presented to demonstrate that all test criteria were met in less than the time allocated.

  9. 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.

  10. Astronaut James Irwin keeps Lunar Roving Vehicle from sliding downhill

    Science.gov (United States)

    1971-01-01

    Astronaut James B. Irwin, lunar module pilot, holds the Lunar Roving Vehicle from sliding downhill during the second Apollo 15 lunar surface extravehicular activity. Apparently, both of the Rover's rear wheels are off the ground. The Rover was parked facing downhill on a 15 to 20 degree slope. Astronaut David R. Scott, commander, took this photograph. Scott was performing other tasks while Irwin held the Rover. They were parked at a 'fresh' crater on the Apennine Front (Hadley Delta Mountain) slope. In the foreground a lunar rake lies atop a mound.

  11. James Cameron speaks out about ocean discovery and protection

    Science.gov (United States)

    Showstack, Randy

    2013-06-01

    Ocean explorer and filmmaker James Cameron delivered his DEEPSEA CHALLENGER submersible vehicle to the Woods Hole Oceanographic Institution (WHOI) in Woods Hole, Mass., on 14 June, following a cross-country journey from California. He has donated the vehicle to WHOI as part of a new Center for Marine Robotics. Cameron, who will serve on the center's advisory board, used the submersible in March 2012 to dive to the deepest part of the ocean, the Challenger Deep section of the Mariana Trench in the Pacific Ocean (see Eos, 93(50), 523, doi:10.1029/2012EO500003).

  12. Giant Planet Observations with the James Webb Space Telescope

    CERN Document Server

    Norwood, James; Fletcher, Leigh N; Orton, Glenn; Irwin, Patrick G J; Atreya, Sushil; Rages, Kathy; Cavalié, Thibault; Sánchez-Lavega, Agustin; Hueso, Ricardo; Chanover, Nancy

    2015-01-01

    This white paper examines the benefit of the upcoming James Webb Space Telescope for studies of the Solar System's four giant planets: Jupiter, Saturn, Uranus, and Neptune. JWST's superior sensitivity, combined with high spatial and spectral resolution, will enable near- and mid-infrared imaging and spectroscopy of these objects with unprecedented quality. In this paper we discuss some of the myriad scientific investigations possible with JWST regarding the giant planets. This discussion is preceded by the specifics of JWST instrumentation most relevant to giant planet observations. We conclude with identification of desired pre-launch testing and operational aspects of JWST that would greatly benefit future studies of the giant planets.

  13. 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

  14. A Scientific Revolution: the Hubble and James Webb Space Telescopes

    Science.gov (United States)

    Gardner, Jonathan P.

    2012-01-01

    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 most important astronomical discoveries of the last IO years, and the role that space telescopes have played in those discoveries. The next decade looks equally bright with the newly refurbished Hubble and the promise of its successor, the James Webb Space Telescope. I will describe how Hubble was upgraded and how and why we are building Webb.

  15. James N Gray - An eScience Visionary

    Indian Academy of Sciences (India)

    2016-08-01

    James N Gray (Jim Gray) was a computer scientist whosemajor contributions include formalising a theory for reliabletransaction processing of large databases and implementingsystems based on his theory. This work was crucial to implementreliable financial transactions by banks and other financialinstitutions. (Financial transactions are a subset of alltransactions.) In addition, he is credited with coining the termFourth Paradigm, i.e., data driven scientific discovery byscientists who collect humongous amount of data with modernscientific instruments. He also collaborated with diversegroups of scientists to organize the data collected by them tofacilitate easy retrieval and interpretation.

  16. Bioclimatic lessons from James C. Rose's architecture

    Energy Technology Data Exchange (ETDEWEB)

    Vissilia, A.M. [Department of Structural Engineering, National Technical University of Athens, Kodrou 13, 105 58 Athens (Greece)

    2009-08-15

    This paper attempts to interpret three residences designed by landscape architect James Rose, focusing on their bioclimatic concepts (layout of the buildings: orientation in relation to sun and wind, geometry of the building form; spacing: site planning-landscape; air movement; openings: size, position and orientation, protection; and building envelope: choice of building materials and construction detailing). James Rose (1913-1991) was one of the three pioneer landscape architects who established modern landscape design in the United States. He had the opportunity to design three residences and their landscapes which constitute the clearest expression of his views about environmental design. Residences conceived in Rose's design philosophy result to the creation of an ''environment'' instead of the ordinary approach of architecture plus landscape, exhibiting his contribution to the development of a less aggressive architecture, more attentive and integrated to the environment. This is a rare approach where the design is product of one single mind that of the landscape architect. Several bioclimatic concepts are apparent in the landscape architect's works, showing a deep concern with the integration between construction and environment. The three cases explored are: the landscape architect's environment (1952, 1970), the Zheutlin environment (1956), and the Slutzker environment (1964). (author)

  17. The La Grande hydroelectric development - James Bay, Quebec

    Energy Technology Data Exchange (ETDEWEB)

    Pare, J-J.; Levay, J.

    1997-10-01

    An historical overview of the James Bay Hydroelectric Power Development in northern Quebec was provided. The account touches upon the foundation of the Societe d`energie de la Baie James, a wholly-owned subsidiary of Hydro-Quebec. It describes the La Grande Complex, and provides a brief summary of the site investigation, the geological and geotechnical considerations, the rock excavation, the construction of embankments and dikes, and nature of the bedrock and overburden foundations. Some of the more interesting problems that arose during the construction such as the settling of the crest in the protective islands surrounding the instruments at some of the dam sites were outlined. Leakage under some of the La Grande 3 low head dikes near the end of the reservoir filling period and the degradation of some of the riprap protection of the Phase One embankments were also described. The solutions designed to overcome these problems were also part of the account of this major mega development project that promoted Quebec into the ranks of the major hydro energy producers in North America. 11 refs., 2 tabs., 3 figs., photos.

  18. 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.

  19. Severe hemophilia in a girl infant with mosaic Turner syndrome and persistent hyperplastic primary vitreous.

    Science.gov (United States)

    Shahriari, Mahdi; Bazrafshan, Asghar; Moghadam, Mohamad; Karimi, Mehran

    2016-04-01

    A 6-month-old girl was referred by an ophthalmologist because of postoperative bleeding. She was scheduled for operation because of persistent hyperplastic primary vitreous. Workups were done and prolonged partial thromboplastin time with normal platelet count, normal bleeding time, and prothrombin time were detected. There was negative family history of bleeding tendency in both maternal and paternal family, so at the first step, Factor XI assay was requested which was normal. Then, von Willebrand factor and factor VIII were assayed which was 127% and less than 1%, respectively. Severe factor VIII deficiency was not suspected in a girl unless in siblings of a hemophilic patient who gets married with her carrier cousin. Chromosomal study and genetic testing were requested and mosaic Turner syndrome (45 XO) with ring X (p22, 2q13) along with inversion 22 (hemizygote) was detected. Abdominal and pelvic sonography showed absence of both ovaries with presence of infantile uterus. Maternal genetic study was in favor of carrier of hemophilia (heterozygote inversion 22). To the best of our knowledge, this is the first case of association of Turner syndrome with severe hemophilia A and persistent hyperplastic primary vitreous.

  20. Frequencies of spontaneous breast development and spontaneous menarche in Turner syndrome in Japan.

    Science.gov (United States)

    Tanaka, Toshiaki; Igarashi, Yutaka; Ozono, Keiichi; Ohyama, Kenji; Ogawa, Masamichi; Osada, Hisao; Onigata, Kazumichi; Kanzaki, Susumu; Kohno, Hitoshi; Seino, Yoshiki; Takahashi, Hiroaki; Tajima, Toshihiro; Tachibana, Katsuhiko; Tanaka, Hiroyuki; Nishi, Yoshikazu; Hasegawa, Tomonobu; Fujita, Keinosuke; Yorifuji, Tohru; Horikawa, Reiko; Yokoya, Susumu

    2015-10-01

    The Growject® database on human GH treatment in Turner syndrome was analyzed in the Turner Syndrome Research Collaboration, and the relationships of the frequencies of spontaneous breast development and spontaneous menarche with karyotype and GH treatment were investigated. One hundred and three cases started GH treatment with 0.5 IU/kg/ week (0.5 IU group), and their dose was increased to 0.35 mg/kg/wk midway through the treatment course. Another 109 cases started GH at a dose of 0.35 mg/kg/wk (0.35 mg group). Spontaneous breast development was observed in 77 (36.3%) of the 212 patients, and spontaneous menarche occurred in 31 patients (14.6%). The frequency of spontaneous breast development was significantly lower in patients with the 45,X karyotype and significantly higher in patients with a structural abnormality of the second X chromosome. The frequency of spontaneous menarche was significantly higher in patients with mosaicism characterized by X monosomy and a cellular line with no structural abnormality of the X chromosome. No significant differences in frequencies of spontaneous breast development and spontaneous menarche were observed between the two dose groups, indicating that GH treatment does not increase the frequency of spontaneous puberty.

  1. Rare association between two genetic conditions: turner syndrome and beta thalassemia minor

    Directory of Open Access Journals (Sweden)

    Dorina STOICANESCU

    2009-11-01

    Full Text Available Rare disorders are defined as diseases, including those of genetic origin, which are life-threatening or chronically debilitating, which are of such low prevalence that special combined efforts are needed to address them. We present a case with a rare association between two genetic conditions: Turner phenotype and beta thalassemia minor. Turner syndrome is a chromosomal disorder that is characterized by the absence of all or part of a second sex chromosome in some or all cells. This condition occurs in 1 in 2,500 to 3,000 girls. The physical features include webbing of the neck, short stature, delayed growth of the skeleton, broad chest, cardivascular abnormalities and gonadal dysgenesis. Women with this disorder are usually infertile due to ovarian failure. The clinical diagnosis was confirmed by the cytogenetic and by FISH analysis, which revealed the presence of only one X chromosome. Treatment may include human growth hormone and estrogen replacement therapy. On the other hand, thalassemias are genetic conditions that result from imbalance in the normal coordinated synthesis of the globin subunits that make up the hemoglobin tetramer, leading to decreased and defective production of hemoglobin. Beta thalassemia syndromes are hereditary disorders characterized by a genetic deficiency in the synthesis of beta-globin chains. Beta thalassemia is inherited in an autosomal recessive manner. Thalassemia minor usually presents as an asymptomatic mild microcytic anemia, but our case also had splenomegaly and required splenectomy.

  2. 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.

  3. RETRATO DEL ARTISTA JAMES JOYCE, ADOLESCENTE // A PORTRAIT OF THE ARTIST JAMES JOYCE AS A YOUNG MAN

    Directory of Open Access Journals (Sweden)

    Mario Elkin Ramírez

    2013-06-01

    Full Text Available La confrontación de algunas lecciones del Seminario XXIII de Jacques Lacan con El retrato del artista adolescente de James Joyce, que fue una de las fuentes de Lacan, da por resultado sorprendente cómo la obra plasma a Joyce adolescente, encontrando los anudamientos allí donde la forclusión del Nombre del Padre no le permitía responder y podría dar lugar a desenganches que lo harían desencadenar su psicosis. No obstante, con su obra iba construyendo poco a poco una obra que le sirvió de Sinthoma y anudamiento a su estructura. // The contrast between some lessons in Seminar XXIII of Jacques Lacan with A Portrait of the Artist as a Young Man by James Joyce, that was one of Lacan's sources, brings about how the work depicts Joyce as a young man, finding the knottings where the foreclosure of the Name of the Father did not allow him to respond and could lead to some detachments that would trigger his psychosis. Nevertheless, with his work he was gradually building a work that was useful as Sinthome and knotting of his structure.

  4. Risk of solid tumors and hematological malignancy in persons with Turner and Klinefelter syndromes: A national cohort study.

    Science.gov (United States)

    Ji, Jianguang; Zöller, Bengt; Sundquist, Jan; Sundquist, Kristina

    2016-08-15

    The risk of solid and hematological malignancy in patients with Turner syndrome, characterized by X chromosome monosomy in women, and Klinefelter syndrome, characterized with two and more X chromosomes in men, is not well established, but such evidence may have etiological implications on cancer development. We identified a total of 1,409 women with Turner syndrome and 1,085 men with Klinefelter syndrome from the Swedish Hospital Discharge and Outpatient Register. These individuals were further linked to the Swedish Cancer Register to examine the standardized incidence ratios (SIRs) of cancer using the general population without Turner and Klinefelter syndromes as reference. The overall risk of cancer was 1.34 for women with Turner syndrome; it was increased only for solid tumors. For a specific type of tumor, the risk of melanoma and central nervous system tumor was significantly increased. For persons with Klinefelter syndrome, the risk of solid tumors was decreased (SIR = 0.66), whereas the risk of hematological malignancy was increased (SIR = 2.72). Non-Hodgkin lymphoma and leukemia showed an increased SIR of 3.02 and 3.62, respectively. Our study supported the hypothesis that X chromosome plays an important role in the etiology of solid tumors. The underlying mechanisms for the increased incidence of non-Hodgkin lymphoma and leukemia in persons with Klinefelter syndrome need to be investigated further.

  5. Cleft posterior mitral valve leaflet in an adult with Turner syndrome diagnosed with the use of 3-dimensional transesophageal echocardiography.

    Science.gov (United States)

    Negrea, Stefania Luminita; Alexandrescu, Clara; Sabatier, Michel; Dreyfus, Gilles D

    2012-01-01

    Turner syndrome is a monosomy (45,X karyotype) in which the prevalence of cardiovascular anomalies is high. However, this aspect of Turner syndrome has received little attention outside of the pediatric medical literature, and the entire spectrum of cardiovascular conditions in adults remains unknown. We present the case of a 34-year-old woman who had Turner syndrome. When she was a teenager, her native bicuspid aortic valve was replaced with a mechanical prosthesis. Fifteen years later, during preoperative examination for prosthesis-patient mismatch, severe mitral regurgitation was detected, and a congenital cleft in the posterior leaflet of the mitral valve was diagnosed with use of 3-dimensional transesophageal echocardiography. The patient underwent concurrent mitral valve repair and aortic valve replacement. To our knowledge, this is the first report of a cleft in the posterior mitral valve leaflet as a cardiovascular defect observed in Turner syndrome, and the first such instance to have been diagnosed with the use of 3-dimensional echocardiography.

  6. 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…

  7. La talla final no afecta a la calidad de vida de las mujeres con síndrome de Turner

    OpenAIRE

    González Rodríguez, María Paz; Velarde Mayol, Cristina

    2011-01-01

    Las autoras de este artículo pretenden comparar la percepción de la calidad de vida de las mujeres con síndrome de Turner (ST) tratadas con hormona de crecimiento (HC) con la de las que no recibieron tratamiento.

  8. 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...

  9. Uterus and ovaries in girls and young women with Turner syndrome evaluated by ultrasound and magnetic resonance imaging

    DEFF Research Database (Denmark)

    Cleemann, Line Hartvig; Holm, Kirsten; Fallentin, Eva Marie

    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...

  10. 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 ag

  11. 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 (GH

  12. A Case of High-grade Transitional Cell Carcinoma of the Bladder in a Pediatric Patient With Turner Syndrome.

    Science.gov (United States)

    Aguiar, Liza; Danialan, Richard; Kim, Christina

    2015-06-01

    Transitional cell carcinoma is a rare entity in children, especially in the first decade of life. The majority of these tumors are of low grade and noninvasive. We report an interesting case of a high-grade superficial transitional cell carcinoma in a 3-year-old girl with Turner syndrome.

  13. Cruveilhier-Baumgarten disease in a patient with Turner syndrome: case report of a rare indication for liver transplantation.

    Science.gov (United States)

    Aucejo, Federico; Ibrahim, Zuhaib; Hashimoto, Koji; Quintini, Cristiano; Kelly, Dympna; Vogt, David; Eghtesad, Bijan; Fung, John; Miller, Charles; Tuthill, Ralph

    2008-03-01

    Some chromosomal alterations can be associated with vascular abnormalities. For instance, Turner syndrome can be complicated by agenesis or hypoplasia of the portal venous system causing presinusoidal portal hypertension. Liver transplantation to treat this condition overcomes portal hypertension and reconstitutes the diminished hepatic function due to severe atrophy of the portal venous inflow.

  14. The Role of Students in Data Use: Commentary on Coburn and Turner's "Research on Data Use: A Framework and Analysis"

    Science.gov (United States)

    Hamilton, Laura S.

    2011-01-01

    Cynthia Coburn and Erica Turner have made an important contribution by developing a framework to synthesize the various strands of research and theory related to data use in schools. The framework illustrates the complexity of the pathways between the adoption of a data-use intervention and the attainment of desired outcomes, and it clarifies the…

  15. 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…

  16. 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…

  17. 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

  18. Moral Development as the Personal Education of Feeling and Reason: From James to Piaget

    Science.gov (United States)

    Ferrari, Michel; Okamoto, Carol M.

    2003-01-01

    This article traces the connection between William James's writings in "The Varieties of Religious Experience" and Jean Piaget's work on moral development through Piaget's early work on religious experience. James characterises religious experience as unlocking deep personal power that can sustain a "strenuous mood". These ideas impacted the early…

  19. 77 FR 63734 - Security Zone; James River, Kingsmill Resort, Williamsburg, VA

    Science.gov (United States)

    2012-10-17

    ...: Table of Acronyms DHS Department of Homeland Security FR Federal Register NPRM Notice of Proposed... SECURITY Coast Guard 33 CFR Part 165 RIN 1625-AA00 Security Zone; James River, Kingsmill Resort... establishing a temporary security zone on the James River in the vicinity of Kingsmill Resort...

  20. An Exploration of the Theme in “Paste” by Henry James

    Institute of Scientific and Technical Information of China (English)

    Guo Liqun

    2016-01-01

    “Paste” is a 5,800-word short story by Henry James which attracts many critics’ attention. However, many people hold misunderstanding towards it because of he cumbersome style of Henry James and his misplaced illustration. After settling down the main mysteries in the story, the theme revealed as a critique about the sex trade.