Together with John Tomes, J. S. Turner was a leading campaigner in the fight to advance dentistry from a trade to a profession. Through the Dental Reform Committee he promoted the establishment of a Dentists Register and then the British Dental Association. As first secretary of the BDA he guided it through its first days. He became president in 1891.
Turner syndrome is a genetic disorder that affects a girl's development. The cause is a missing or incomplete X ... work properly. Other physical features typical of Turner syndrome are Short, "webbed" neck with folds of skin ...
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
... girls and women with TS may have low self- esteem, anxiety, or depression. How is Turner syndrome diagnosed? ... to active partners in their health care. This fact sheet is also available in Spanish at www. ...
... have an increased risk of an underactive thyroid (hypothyroidism) due to the autoimmune disorder Hashimoto's thyroiditis. They also have an increased risk of diabetes. Some women with Turner syndrome have gluten intolerance (celiac disease) or inflammatory bowel disease. Skeletal ...
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
... celiac disease. 5 Is Turner syndrome considered a disability? Turner syndrome is not considered a disability, although ... girls with Turner syndrome have difficulty with arithmetic, visual memory, and visio-spatial skills (such as determining ...
... and other problems, with the right medical care, early intervention, and ongoing support, a girl with Turner syndrome ... maturity before kindergarten. If learning problems are found, early preventive and intervention strategies can help. Looking Ahead Girls with Turner ...
... is ADHD . Some girls also have problems with body image or self-esteem. How Is Turner Syndrome Diagnosed? Girls with Turner ... Puberty How Can I Improve My Self-Esteem? Body Image and Self-Esteem Thyroid Disease View more Partner Message About Us ...
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…
Enright, Eimear; Gard, Michael
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…
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.
Klinefelter, Down/XXXI and TumerlPatau syndromes.2 The Down/Klinefelter combination is the most frequent double aneuploidy recognised.3. Turner/Down mosaicism usually occurs as a phenotypical. Down syndrome with cytogenetic ...
McClure, Jason P.
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.
This article presents an interview with James Howe, author of "The Misfits" and "Totally Joe". In this interview, Howe discusses tolerance, diversity and the parallels between his own life and his literature. Howe's four books in addition to "The Misfits" and "Totally Joe" and his list of recommended books with lesbian, gay, bisexual, transgender,…
"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)
Maranhão, Marcius Vinícius M
Turner syndrome is a frequent and complex genetic abnormality affecting women, being associated with a wide variety of anatomical and physiological changes, especially related with the airways and cardiovascular system. The objective of this report was to review the anatomopathologic changes of this syndrome that concern the anesthesiologist the most, discuss the perioperative management and review the literature regarding the anesthetic conduct in those patients. Turner syndrome is a genetic disorder characterized by an abnormality in the number or morphology of the sex chromosome. The most frequent abnormality is the absence of a sex chromosome, resulting in the 45X karyotype and a phenotype composed of gonadal dysgenesis. The main anatomo-physiological changes pertaining the anesthesiologist include a short neck, and maxillary and mandibular hipoplasia, which might be responsible for difficult airways. The shorter length of the trachea, as well as the higher location of its bifurcation, can predispose to bronchial intubation and accidental endotracheal extubation when the tracheal cannula is under traction. The presence of cardiopathies, endocrine and gastrointestinal disorders, liver and kidney changes, as well as osteoarticular involvement, besides ophthalmologic and hearing impairments, are very frequent, and should be detected during the pre-anesthetic evaluation. General or regional anesthesia seems to be safe for those patients. Turner syndrome is a genetic abnormality with important anatomo-physiological abnormalities important to the anesthesiologist. The knowledge of this disorder allows for a safer anesthetic management with low perioperative morbimortality.
Van Antwerp, Herbert James
Information Technology (IT) projects that resulted from the accelerated technological pace of change, will enable a path of growth and long term return on investment (ROI) for organisations. However, embarking on such large scale investments leave little opportunity to turn back, and sound project management principles will be required to effectively manage unforeseen issues during the project life cycle, and if these fail, the organisations will be constantly functioning in cr...
Goetghebeur, Mireille M; Wagner, Monika; Khoury, Hanane; Rindress, Donna; Grégoire, Jean-Pierre; Deal, Cheri
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. 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. 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. 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 decision-making.
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.
Full Text Available Turner syndrome has multiple comorbidities such as osteoporosis, obesity, diabetes, hypothyroidism, and hypertension. As they are treatable conditions in Turner syndrome, early recognition and proper treatment should be needed. We report on a 23-year-old woman with Turner syndrome who presented with severe osteoporosis and hypercalcemia. Laboratory tests showed elevated levels of serum calcium and parathyroid hormone. Dual-energy X-ray absorptiometry showed severe osteopo-rosis (z score, -3.5. Ultrasound and 99mTc scintigraphy of parathyroid glands showed an adenoma in the right inferior gland. She was diagnosed with primary hyperparathyroidism due to an adenoma of the parathyroid gland. After excision of the adenoma, the patient's serum calcium and parathyroid hormone levels returned to normal. Although only a few cases of Turners syndrome with primary hyperparathyroidism have been reported, hyperparathyroidism should be considered in cases of Turner syndrome with severe osteoporosis and hypercalcemia.
... Sep 7. Citation on PubMed Hong D, Scaletta Kent J, Kesler S. Cognitive profile of Turner syndrome. Dev ... Institutes of Health National Library of Medicine Lister Hill National Center for Biomedical Communications 8600 Rockville Pike, ...
Monteiro Dos Santos, Ricardo Barreto; Dos Santos, Saulo Monteiro; Carneiro Leal, Flávio José Câmara; Lins, Otávio Gomes; Magalhães, Carmem; Mertens Fittipaldi, Ricardo Bruno
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.
... NICHD Research Information Find a Study More Information Pharmacology Condition Information NICHD Research Information Find a Study ... Turner syndrome can cause serious health problems. In general, women with Turner syndrome have female sex characteristics, ...
Wessels, Quenton; Correia, Janine Carla; Taylor, Adam M
Sir William Turner, a Lancastrian, was renowned as a scientist, anatomist and a great reformer of medical education. His students became anatomists at various international institutions, which consequently shaped the future of anatomy as a subject matter both in the United Kingdom and in South Africa. Although Turner's accomplishments have been documented, little is known about the details that determined his career path and the individuals that shaped his future. Here the authors aim to highlight some aspects of Turner's academic achievements and his personal life as well as how he crossed paths with other great minds of the Victorian era including Richard Owen, Charles Darwin, James Paget and Joseph Lister. © The Author(s) 2015.
Monteiro dos Santos, Ricardo Barreto; dos Santos, Saulo Monteiro; Carneiro Leal, Flávio José Câmara; Lins, Otávio Gomes; Magalhães, Carmem; Mertens Fittipaldi, Ricardo Bruno
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. PMID:26229940
Ricardo Barreto Monteiro dos Santos
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.
Carr, Patrick L.
This dissertation analyzes how North Carolina State University's (NCSU) James B. Hunt Jr. Library extends the ways in which the information architectures of academic research libraries can function as a technology, as discourse, and as rhetoric. The starting point for the analysis is the libraries of antiquity, which functioned technologically as…
Hyodo, Hiromi; Tomita, Yuichiro; Hirai, Kohta; Hirakawa, Hitoshi; Ueno, Shigeru; Ishiguro, Hiroyuki
Turner syndrome is a chromosomal disease frequently associated with autoimmune disorders including diabetes mellitus, thyroid disease and inflammatory bowel disease (IBD). Although the etiology of IBD has not been fully elucidated, genetic analysis has recently revealed several susceptibility genes. Recently, cases with Turner syndrome associated with IBD have been reported. We report here a 13-yr-old girl with Turner syndrome associated with ulcerative colitis. The patient was undergoing growth hormone treatment and presented with abdominal discomfort and bloody diarrhea. Her karyotype pattern was 46,X,i(Xq). Barium enema revealed punctate collections of barium suggesting microulcerations in the descending and sigmoid colon with loss of haustra. Flexible sigmoidoscopy showed that the mucosa was erythematous and friable upon touch and that the wall had frank hemorrhage and inflammatory polyp formation from the anal verge through the splenic flexure. Histologically, mucosal and submucosal inflammation was prominent, suggesting cryptitis and crypt abscess formation. Based on these findings, she was diagnosed as having ulcerative colitis, and 5-aminosalicylic acid, prednisolone and dietary therapy were initiated. Our observations in this patient suggest that X chromosome abnormality may influence the development of IBD and that screening for gastrointestinal disease in patients with Turner syndrome may help lengthen life expectancy in these patients. PMID:23926368
Hong, David; Kent, Jamie Scaletta; Kesler, Shelli
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…
Emilio Yunis T.
Full Text Available Twenty wholly studied patients with turne's phenotype, whose caryologic studies confirm the chromosomal abnormality, are presented. A review of the literature on the subject has been done. Finally, a discussion on the hypothesis over the origin of the chrosomal abnormality and its significance in the various Turner's phenotypes is presented.
Jung, Sook Young; Park, Joo Won; Kim, Dong Hyun; Jun, Yong Hoon; Lee, Jeong Seop; Lee, Ji Eun
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.
Folsom, Lisal J; Fuqua, John S
Turner syndrome is one of the most common chromosomal abnormalities affecting female infants. The severity of clinical manifestations varies and it affects multiple organ systems. Women with Turner syndrome have a 3-fold increase in mortality, which becomes even more pronounced in pregnancy. Reproductive options include adoption or surrogacy, assisted reproductive techniques, and in rare cases spontaneous pregnancy. Risks for women with Turner syndrome during pregnancy include aortic disorders, hepatic disease, thyroid disease, type 2 diabetes, and cesarean section delivery. Providers must be familiar with the risks and recommendations in caring for women with Turner syndrome of reproductive age. Copyright © 2015 Elsevier Inc. All rights reserved.
Abraham, Nithin S.; Hasegawa, Mark M.; Wooldridge, Eve M.; Henderson-Nelson, Kelly A.
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.
Stouthard, J. M.; Krediet, R. T.; Arisz, L.
A 41-year-old CAPD patient developed Grey-Turner's sign during the course of bacterial peritonitis due to Pseudomonas aeruginosa. At the same time a diagnosis of sclerosing peritonitis was made by CT-scanning of the abdomen. We think that Grey-Turner's flank staining could either have been caused by
Jørgensen, Kristian T; Rostgaard, Klaus; Bache, Iben
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 T...
Mortensen, Kristian H; Gopalan, Deepa; Nørgaard, Bjarne L; Andersen, Niels H; Gravholt, Claus H
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.
Most women with Turner syndrome (TS) are infertile due to primary ovarian failure. However, approximately 5% experience spontaneous pregnancy, and recently, more women with TS have used assisted reproductive technology with donated oocytes (ART-OD) to become pregnant. The first generation of Turner patients undergoing ART-OD demonstrated a high rate of fatal aortic dissection in late pregnancy or postpartum. More recent observations, particularly from Nordic countries, suggest a lesser risk of dissection, but confirm a high rate of pre-eclampsia in ART-OD pregnancies. This article reviews publications since 2000 concerning maternal outcomes for pregnancies in women with TS to determine if specific risk factors such as type of pregnancy, age, or presence of underlying congenital cardiovascular disease may identify women at special risk.
Full Text Available Turner syndrome (TS is a genetic disorder which is characterized by the complete or partial absence of the X chromosome. The incidence is 1/2500 female live births. The main clinical findings are short stature, primary amenorrhea and infertility, and phenotypical features include webbed neck, a low posterior hairline, cubitus valgus and shortening of the fourth metacarpal. While 1% of all still births have 45,X monosomy, this rate has been reported to be approximately 10% in spontaneous abortions. The karyotype is determined as 45,X in about half of the patients. Therefore, most of the TS fetuses are considered to end in spontaneous abortion and only mosaic cases survive to term. Isochromosome Xq is the most common structural rearrangement of the X chromosome. Furthermore, ring X chromosome, deletions and Y chromosome abnormalities can be detected in patients with TS.
... NICHD Research Information Find a Study More Information Preeclampsia and Eclampsia About NICHD Research Information Find a ... Facebook Twitter Pinterest Email Print What are common treatments for Turner syndrome? Although there is no cure ...
Alkhayyat, H.; Christesen, Henrik Thybo; Steer, J.
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...
Viuff, Mette H; Trolle, Christian; Wen, Jan; Jensen, Jesper M; Nørgaard, Bjarne L; Gutmark, Ephraim J; Gutmark-Little, Iris; Mortensen, Kristian H; Gravholt, Claus Højbjerg; Andersen, Niels H
Congenital heart disease, primarily involving the left-sided structures, is often seen in patients with Turner Syndrome. Moreover, a few case reports have indicated that coronary anomalies may be more prevalent in Turner Syndrome than in the normal population. We therefore set out to systematically investigate coronary arterial anatomy by computed tomographic coronary angiography (coronary CTA) in Turner Syndrome patients. Fifty consecutive women with Turner Syndrome (mean age 47 years [17-71]) underwent coronary CTA. Patients were compared with 25 gender-matched controls. Coronary anomaly was more frequent in patients with Turner Syndrome than in healthy controls [20% vs. 4% (p = 0.043)]. Nine out of ten abnormal cases had an anomalous left coronary artery anatomy (absent left main trunk, n = 7; circumflex artery originating from the right aortic sinus, n = 2). One case had a tubular origin of the right coronary artery above the aortic sinus. There was no correlation between the presence of coronary arterial anomalies and karyotype, bicuspid aortic valve, or other congenital heart defects. Coronary anomalies are highly prevalent in Turner Syndrome. The left coronary artery is predominantly affected, with an absent left main coronary artery being the most common anomaly. No hemodynamically relevant coronary anomalies were found. Copyright © 2016 Society of Cardiovascular Computed Tomography. All rights reserved.
In "EPAT", vol. 36, no. 1, 2004, James Muir takes the author and fellow philosophers of education to task for their ignorance of the history of philosophy of education. "[T]oo many currently influential educationists, Professor White in particular, are literally unaware that educational philosophy has a history more than three hundred years in…
Jorge E. Brenna B.
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.
Grynberg, Michaël; Bidet, Maud; Benard, Julie; Poulain, Marine; Sonigo, Charlotte; Cédrin-Durnerin, Isabelle; Polak, Michel
Premature ovarian insufficiency is a relatively rare condition that can appear early in life. In a non-negligible number of cases the ovarian dysfunction results from genetic diseases. Turner syndrome (TS), the most common sex chromosome abnormality in females, is associated with an inevitable premature exhaustion of the follicular stockpile. The possible or probable infertility is a major concern for TS patients and their parents, and physicians are often asked about possible options to preserve fertility. Unfortunately, there are no recommendations on fertility preservation in this group. The severely reduced follicle pool even during prepubertal life represents the major limit for fertility preservation and is the root of numerous questions regarding the competence of gametes or ovarian tissue crybanked. In addition, patients suffering from TS show higher than usual rates of spontaneous abortion, fetal anomaly, and maternal morbidity and mortality, which should be considered at the time of fertility preservation and before reutilization of the cryopreserved gametes. Apart from fulfillment of the desire of becoming genetic parents, TS patients may be potential candidates for egg donation, gestational surrogacy, and adoption. The present review discusses the different options for preserving female fertility in TS and the ethical questions raised by these approaches. Copyright © 2016 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.
Liang, Y; Wei, H; Yu, X; Huang, W; Luo, X P
Objective: To explore the clinical characteristics of diagnosis and treatment in patients with Turner syndrome and rapidly progressive puberty. Method: A rare case of rapidly progressive puberty in Turner syndrome with a mosaic karyotype of 45, X/46, X, del(X)(p21)(80%/20%)was diagnosed at Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology in January. 2015. Clinical characteristics and the related literature were reviewed. Original papers on precocious puberty or rapidly progressive puberty in Turner syndrome, published until Apr. 2016 were retrieved at PubMed and CNKI databases by the use of the key words "Turner syndrome" , "precocious puberty" and "rapidly progressive puberty" . Result: The patient was born at term with birth weight of 2 450 g and was diagnosed with SGA at 3 years of age for the first evaluating of growth and development. Then recombined human growth hormone (rhGH )was given at 4 years of age due to short stature (heightTurner syndrome is reported. Although short stature and ovarian dysgenesis are common in TS, precocious puberty may occur in TS, which is liable to cause delayed diagnosis and misdiagnosis. Careful examination is recommended for patients with unusual growth pattern, even though girls have normal height in accord with standard growth curve or spontaneous puberty. Evaluation for TS and subsequent investigation should be prompted.
... Email Print How do health care providers diagnose Turner syndrome? Health care providers use a combination of physical ... the X chromosomes is partially or completely missing. Turner syndrome also can be diagnosed during pregnancy by testing ...
Witkowska-Sędek, Ewelina; Borowiec, Ada; Kucharska, Anna; Chacewicz, Karolina; Rumińska, Małgorzata; Demkow, Urszula; Pyrżak, Beata
Turner syndrome is associated with increased incidence of autoimmune diseases, especially those of the thyroid gland. The aim of this study was to assess the prevalence of thyroid autoimmunity among pediatric patients with Turner syndrome. The study was retrospective and included 41 girls with Turner syndrome aged 6-18 years. Free thyroxine (FT4), thyroid stimulating hormone (TSH), anti-thyroid peroxidase (TPO-Ab) antibodies, anti-thyroglobulin (TG-Ab) antibodies, and karyotype were investigated. The correlation between karyotype and incidence of thyroid autoimmunity was also examined. Eleven patients (26.8%) were positive for TPO-Ab and/or TG-Ab. Three girls from that subgroup were euthyroid, 5 had subclinical hypothyroidism, and 3 were diagnosed with overt hypothyroidism. Out of these 11 patients affected by thyroid autoimmunity, 6 girls had mosaic karyotype with X-isochromosome (n = 4) or with deletions (n = 2), and 5 had the 45,X karyotype. The study findings confirmed a high incidence of thyroid autoimmunity in girls with Turner syndrome, but we failed to observe an association between the incidence of thyroid autoimmunity and karyotype. We conclude that it is important to monitor thyroid function in patients with Turner syndrome because they are prone to develop hypothyroidism.
Hoven, A.T. van den; Chelu, R.G.; Duijnhouwer, A.L.; Demulier, L.; Devos, D.; Nieman, K.; Witsenburg, M.; Bosch, A.E. van den; Loeys, B.L.; Hagen, I.M. van; Roos-Hesselink, J.W.
PURPOSE: The aim of this study is to describe the prevalence, anatomy, associations and clinical impact of partial anomalous pulmonary venous return in patients with Turner syndrome. METHODS AND RESULTS: All Turner patients who presented at our Turner clinic, between January 2007 and October 2015
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.
Alkhayyat, H.; Christesen, Henrik Thybo; Steer, J.
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......'s syndrome is important as persistent hypoglycaemia may lead to brain damage in addition to the risk of mental retardation. Further studies are required to understand whether the mosaic over--or underexpression of unidentified X chromosome gene(s) in the pancreatic beta-cells leads to hyperinsulinaemic...
Pier, Danielle B; Nunes, Fabio P; Plotkin, Scott R; Stemmer-Rachamimov, Anat O; Kim, James C; Shih, Helen A; Brastianos, Priscilla; Lin, Angela E
Neoplasia is uncommon in Turner syndrome, although there is some evidence that brain tumors are more common in Turner syndrome patients than in the general population. We describe a woman with Turner syndrome (45,X) with a meningioma, in whom a second neoplasia, basal cell carcinomas of the scalp and nose, developed five years later in the absence of therapeutic radiation. Together with 7 cases of Turner syndrome with meningioma from a population-based survey in the United Kingdom, and 3 other isolated cases in the literature, we review this small number of patients for evidence of risk factors related to Turner syndrome, such as associated structural anomalies or prior treatment. We performed histological and fluorescent in situ hybridization (FISH) of 22q (NF2 locus) analyses of the meningeal tumor to search for possible molecular determinants. We are not able to prove causation between these two entities, but suggest that neoplasia may be a rare associated medical problem in Turner syndrome. Additional case reports and extension of population-based studies are needed. Copyright © 2014 Elsevier Masson SAS. All rights reserved.
Mortensen, K H; Cleemann, L; Hjerrild, B E
Individuals with Turner syndrome (TS) are prone to develop autoimmune conditions such as coeliac disease (CD), thyroiditis and type 1 diabetes (T1DM). The objective of the present study was to examine TS of various karyotypes for autoantibodies and corresponding diseases. This was investigated...
Murphy, Melissa M.
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…
Ardary, Darlene A.
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…
van Ijsselmuiden, Mèlanie N; Bos, Annelies M E; Hoek, Annemieke; van Beek, André P; Kerstens, Michiel N
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
Milde, K.; Tomaszewski, P.K.; Stupnicki, R.
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)
The James Clerk Maxwell Telescope (JCMT) is a 15 m diameter telescope of high surface accuracy, operating in the millimeter and submillimeter bands, and is situated on Mauna Kea in Hawaii. The JCMT facility is described and a scientific report which includes a variety of scientific results over the years 1989 and 1990 showing the range of astronomical problems tackled with the telescope is presented. Operations, which note the decrease in both the time lost to faults and the time required for engineering and commissioning work, are described. Objectives and progress of the instrumentation program are described. A financial statement is presented.
Full Text Available The paper studies the structure of the pathology of the cardiovascular system in children with Turner syndrome. The results of the survey are based on the findings from 42 patients with Turner syndrome, aged 1.5 to 17 years. It is shown that in 80.9 % of patients with Turner syndrome we have marked pathological changes in the cardiovascular system of varying severity. The most common congenital heart diseases in Turner syndrome are aortic coarctation, bicuspid aortic valve and atrial septal defect. Turner syndrome in 35.6 % of cases is associated with impaired electric work of the heart, in particular, with the long QT syndrome. Atherogenic changes in the lipid profile of patients with Turner syndrome in 21.4 % of cases occur since childhood.
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'.
James Briscoe is a group leader at The Francis Crick Institute in London. His lab's research focusses on the developing vertebrate spinal cord, with a particular interest in how sonic hedgehog gradients, and the downstream signal transduction and transcriptional networks, regulate the development of this tissue. In September 2018, James will become the new Editor-in-Chief of Development. We met with James to discuss his career and research interests, the importance of interdisciplinary thinking in developmental biology, and his views on the current state and future opportunities in scientific publishing. © 2018. Published by The Company of Biologists Ltd.
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"
Siniscalchi, Marcello; Pergola, Gianluca; Quaranta, Angelo
Detour behaviour was investigated in attack-trained dogs faced with a "U"-shaped vertical barrier behind which a figurant (target) was located. Left-turners took less time to detour the barrier than right-turners. The most logical explanation for the lateral asymmetries observed in dogs' detour behaviour is to assume that they reflect preferential use of the right or the left eye in visual analysis of the target. Given that the lateral field of each eye of dogs projects mainly to the contralateral side of the brain, shorter latencies to solve the task observed in left-turners (right visual hemifield) with respect to right-turners (left visual hemifield) are consistent with specialisation of the left hemisphere in prey-catching behaviour. Overall our results supported previous evidence that cerebral lateralisation in vertebrates can directly affect visually guided motor responses and have practical implications for personnel involved in the selection of dogs trained specifically to assist police and other law-enforcement personnel in their work.
McCauley, Elizabeth; And Others
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.…
Eckhauser, Aaron; South, Sarah T; Meyers, Lindsay; Bleyl, Steven B; Botto, Lorenzo D
To evaluate the frequency of Turner syndrome in a population-based, statewide cohort of girls with coarctation of the aorta. The Utah Birth Defects Network was used to ascertain a cohort of girls between 1997 and 2011 with coarctation of the aorta. Livebirths with isolated coarctation of the aorta or transverse arch hypoplasia were included and patients with complex congenital heart disease not usually seen in Turner syndrome were excluded. Of 244 girls with coarctation of the aorta, 77 patients were excluded, leaving a cohort of 167 girls; 86 patients (51%) had chromosomal studies and 21 (12.6%) were diagnosed with Turner syndrome. All patients were diagnosed within the first 4 months of life and 5 (24%) were diagnosed prenatally. Fifteen patients (71%) had Turner syndrome-related findings in addition to coarctation of the aorta. Girls with mosaicism were less likely to have Turner syndrome-associated findings (3/6 mosaic girls compared with 12/17 girls with non-mosaic 45,X). Twelve girls (57%) diagnosed with Turner syndrome also had a bicommissural aortic valve. At least 12.6% of girls born with coarctation of the aorta have karyotype-confirmed Turner syndrome. Such a high frequency, combined with the clinical benefits of an early diagnosis, supports genetic screening for Turner syndrome in girls presenting with coarctation of the aorta. Copyright © 2015 Elsevier Inc. All rights reserved.
Marcius Vinícius M. Maranhão
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
Ríos Orbañanos, Isabel; Vela Desojo, Amaia; Martinez-Indart, Lorea; Grau Bolado, Gema; Rodriguez Estevez, Amaya; Rica Echevarria, Itxaso
Turner syndrome is characterized by a great variability of clinical manifestations caused by a total or partial loss of X-chromosome. A retrospective, descriptive study of the diagnosis, course, and current status of patients with Turner syndrome followed up at our section over the past 40 years, based on review of medical records supplemented with a telephone survey. Forty-five female patients with a current mean age of 22.95years (range 2-38) and a mean age at diagnosis of 4.71 were included. Sixty-three percent of them showed a mosaic karyotype. Short stature was the most common reason for consultation (54%), with increased prenatal diagnosis in most recent cases. Seventy-two percent have been treated with growth hormone, together with oxandrolone in 26%. Final stature was short in 69% of patients. Gonadal failure was found in 66%; most of whom received replacement therapy. Three patients achieved pregnancy by oocyte donation. The 31 adult patients are mainly monitored by the endocrinology (37.5%) and/or gynecology (34.4%) departments. As regards psychosocial aspects, 22% required support during school, and 80% completed middle to high level education. Two patients died, one due to dissecting aortic aneurysm and the other one, who had multiple pathological conditions, from respiratory failure. Short stature is the main cause of diagnosis in patients with Turner syndrome; most cases show genetic mosaicism. The most common clinical manifestations include short stature and gonadal failure. Eighty percent of patients complete middle or high education. In adulthood, follow-up is irregular, sometimes scarce, and clearly improvable. Copyright © 2015 SEEN. Published by Elsevier España, S.L.U. All rights reserved.
Chiu, Bing Q; Tsui, Edmund; Hussnain, Syed Amal; Barbazetto, Irene A; Smith, R Theodore
To report multimodal imaging in a novel case of angioid streaks in a patient with Turner syndrome with 10-year follow-up. Case report of a patient with Turner syndrome and angioid streaks followed at Bellevue Hospital Eye Clinic from 2007 to 2017. Fundus photography, fluorescein angiography, and optical coherence tomography angiography were obtained. Angioid streaks with choroidal neovascularization were noted in this patient with Turner syndrome without other systemic conditions previously correlated with angioid streaks. We report a case of angioid streaks with choroidal neovascularization in a patient with Turner syndrome. We demonstrate that angioid streaks, previously associated with pseudoxanthoma elasticum, Ehlers-Danlos syndrome, Paget disease of bone, and hemoglobinopathies, may also be associated with Turner syndrome, and may continue to develop choroidal neovascularization, suggesting the need for careful ophthalmic examination in these patients.
Byard, Roger W
A case of intracerebral hemorrhage in Turner syndrome is reported with an analysis of possible causes of cerebrovascular accidents in this condition. A 42-year-old woman with known Turner syndrome died soon after hospital admission having been found unconscious at her home address. At autopsy, she showed typical features of Turner syndrome with short stature, webbing of the neck, underdeveloped breasts, and an increased carrying angle of the arm. Death was due to a large left-sided intracerebral hemorrhage extending from the left basal ganglia into the white matter of the frontal lobe and lateral ventricle. Cases of unexpected death in Turner syndrome may arise from occult cerebrovascular accidents which may be hemorrhagic or nonhemorrhagic. Associated features include hypertension, vascular malformations, accelerated atherogenesis, cystic medial necrosis, and moyamoya syndrome. The possibility of Turner syndrome should be considered in cases where there has been a lethal cerebrovascular event in a younger woman. © 2016 American Academy of Forensic Sciences.
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.
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.
Bouet, Pierre-Emmanuel; Godbout, Ariane; El Hachem, Hady; Lefebvre, Maude; Bérubé, Lyne; Dionne, Marie-Danielle; Kamga-Ngande, Carole; Lapensée, Louise
Turner syndrome (TS) occurs in one in 2500 live female births and is one of the most common chromosomal abnormalities in women. Pregnancies in women with TS, conceived with either autologous or donated oocytes, are considered high risk because of the associated miscarriages and life-threatening cardiovascular complications (aortic dissection, severe hypertension). Therefore, it is imperative to conduct a full preconception evaluation and counselling that includes cardiac assessment with Holter blood pressure monitoring, echocardiography, and thoracic MRI. Abnormal findings, such an aortic dilatation, mandate close monitoring throughout the pregnancy and the immediate postpartum period and could possibly contraindicate pregnancy. When in vitro fertilization using donated oocytes is performed in these women, only a single embryo should be transferred. Women with a Turner mosaic karyotype appear to have a lower risk of obstetrical and cardiovascular complications but should nevertheless undergo the full preconception evaluation. In this article, we offer guidelines on the management of women with TS in the preconception period, during pregnancy, and postpartum. Copyright © 2016 The Society of Obstetricians and Gynaecologists of Canada/La Société des obstétriciens et gynécologues du Canada. Published by Elsevier Inc. All rights reserved.
Sánchez Marco, Silvia Beatriz; de Arriba Muñoz, Antonio; Ferrer Lozano, Marta; Labarta Aizpún, José Ignacio; Garagorri Otero, Jesús María
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.
Trovó de Marqui, Alessandra Bernadete
To present the main results of the literature on genetic polymorphisms in Turner Syndrome and their association with the clinical signs and the etiology of this chromosomal disorder. The review was conducted in the PubMed database without any time limit, using the terms Turner syndrome and genetic polymorphism. A total of 116 articles were found, and based on the established inclusion and exclusion criteria 17 were selected for the review. The polymorphisms investigated in patients with Turner Syndrome were associated with growth deficit, causing short stature, low bone mineral density, autoimmunity and cardiac abnormalities, which are frequently found in patients with Turner Syndrome. The role of single nucleotide polymorphisms (SNPs) in the etiology of Turner syndrome, i.e., in chromosomal nondisjunction, was also confirmed. Genetic polymorphisms appear to be associated with Turner Syndrome. However, in view of the small number of published studies and their contradictory findings, further studies in different populations are needed in order to clarify the role of genetic variants in the clinical signs and etiology of the Turner Syndrome. Copyright © 2015 Sociedade de Pediatria de São Paulo. Publicado por Elsevier Editora Ltda. All rights reserved.
Baxter, Michael; Agrawal, Yuri
Turner syndrome is a well-known cause of sensorineural hearing loss, and the lack of estrogen has been implicated in cochlear dysfunction. It has never been associated with vestibular dysfunction. We report a case of a patient with Turner syndrome who was found to have bilateral vestibular dysfunction based on video-oculography (VOG) testing. A single patient with a history of Turner syndrome who was found to have significant bilateral vestibular dysfunction. After noticing a deficit in the vestibulo-ocular reflexes on qualitative horizontal head impulse examination, the patient underwent VOG testing. VOG testing quantatively measures angular vestibulo-ocular reflex (AVOR) gain in the horizontal semicircular canal plane. AVOR gain represents the eye movement response to a head movement; in normal individuals the eye movement is fully compensatory and gain values are close to unity. VOG results showed AVOR gains of 0.29 and 0.36 on the right and left sides, respectively. We have presented a case of a woman with Turner syndrome with asymptomatic vestibular dysfunction demonstrated with VOG testing. Although there is a documented relationship between Turner syndrome and sensorineural hearing loss, there are no previous studies or case reports linking Turner syndrome and vestibular dysfunction. Additional research and added vigilance in monitoring Turner syndrome patients may be warranted.
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
H e also had a large num ber of research students, the m ost fam ous am ong them being. G B W hitham , w ho w as later w ith the C alifornia Institute of Technology at Pasadena. ... sonic °ow around bodies of revolution. H e is credited w ith founding the su b ject of aeroacou stics, in clu d in g th e red u ction of n oise in jet ...
Nicht nach einem berühmten Astronomen, sondern nach einem ihrer erfolgreichen Behördenleiter hat die NASA ihr neues astronomisches Flaggschiff benannt: Im Jahre 2011 soll das James Webb Space Telescope (JWST) das Weltraumteleskop Hubble ablösen.
Initial Work. In 1902 James Moir arrived in South Africa and soon became involved in the mining industry : he investigated the chemistry of the extraction of gold from cyanide solutions and also ..... Now in the first case, the value of the butylidene group can be ... their measurement of the visible band was the same as his.
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…
James Moir was a pioneering chemist in the early 1900s who played a leading role in various chemical societies in South Africa. Although he was mainly ... He was also a theoretical chemist who played a role in the development of atomic theory and made .... remarkable property was its power to form compounds with many ...
Discusses the educational philosophy and the writings of James Comer, who argues that education clings to a model of teaching and learning that promises only failure for countless children and that teacher training fails to equip teachers for the realities and demands of contemporary classrooms. (SR)
Goldberg, Mark F.
James P. Comer, a distinguished Black child psychiatrist born of sharecropper parents, credits his family's values and continued support for his success in college. In 1968, Comer and his colleagues developed a school-based management team to help poor families and schools develop trust and mutual respect. The program is widely used in New Haven…
Kamble Jayaprakash Harsha
Full Text Available Turner syndrome (TS is a rare genetic disease due to the absence of one X chromosome. Patients with TS have more subtle neurological/neuropsychiatric problems, while headache is an uncommon clinical presentation which needs attention. We report a 12-year-old child presenting with typical cough headache. Her magnetic resonance imaging revealed Chiari I malformation associated with TS. To the best of our knowledge, Chiari I malformation associated with TS is not described in literature. We report the first case of TS associated with Chiari I malformation. Interestingly, Chiari I malformation is also associated with Noonan's syndrome, which is a close morphological mimicker of TS, raising the possibility of sharing similar pathogenesis in both conditions.
Villarías-Robles, Juan J. R.
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.
Paolucci, Denise Gruccio; Bamba, Vaneeta
Turner syndrome (TS) is a genetic condition occurring in females resulting from the loss of part or all of one of the X chromosomes. The two hallmark features of Turner syndrome include short stature and primary ovarian insufficiency. In addition, Turner syndrome can involve multiple healthcare issues including cardiac and renal anomalies, autoimmune disorders, hearing loss, ophthalmologic issues, bone anomalies, dermatologic issues and psychosocial and educational concerns. The presenting signs of Turner syndrome can vary markedly, leading to delayed or even missed diagnosis. Early identification of TS allows for appropriate screening and surveillance evaluations and more timely treatment intervention. This article will provide an overview of the healthcare issues common to patients with TS, treatments available and the screening and surveillance testing that is recommended. Copyright© of YS Medical Media ltd.
Victor Witter Turner (1920 – 1983), working with his wife Edith Turner, was an anthropologist deeply concerned with ritual both in tribal communities and in the contemporary developed world. His early fieldwork in African villages in the 1950s was typical of the career development of field anthropologists at that time. He developed a special interest in rituals, seeing these as social drama in addition to the religious expression of the sacred. He drew on the work of Arnold van Gennep (1960, ...
van den Hoven, Allard T; Chelu, Raluca G; Duijnhouwer, Anthonie L; Demulier, Laurent; Devos, Daniel; Nieman, Koen; Witsenburg, Maarten; van den Bosch, Annemien E; Loeys, Bart L; van Hagen, Iris M; Roos-Hesselink, Jolien W
The aim of this study is to describe the prevalence, anatomy, associations and clinical impact of partial anomalous pulmonary venous return in patients with Turner syndrome. All Turner patients who presented at our Turner clinic, between January 2007 and October 2015 were included in this study and underwent ECG, echocardiography and advanced imaging such as cardiac magnetic resonance or computed tomography as part of their regular clinical workup. All imaging was re-evaluated and detailed anatomy was described. Partial anomalous pulmonary venous return was diagnosed in 24 (25%) out of 96 Turner patients included and 14 (58%) of these 24 partial anomalous pulmonary venous return had not been reported previously. Right atrial or ventricular dilatation was present in 11 (46%) of 24 partial anomalous pulmonary venous return patients. When studied with advanced imaging modalities and looked for with specific attention, PAPVR is found in 1 out of 4 Turner patients. Half of these patients had right atrial and/or ventricular dilatation. Evaluation of pulmonary venous return should be included in the standard protocol in all Turner patients. Copyright © 2017. Published by Elsevier B.V.
The evolution of James Clerk Maxwell's religious beliefs is described. His college-age conversion experience and his membership in the ``Apostles'' were crucial in his religious development. In his mature statements, Maxwell denied that scientific truth was dependent on religious truth, or the reverse. Nonetheless, scientific conclusions could enrich religious contemplation of God's actions in nature. Maxwell provided a religious interpretation of the apparent uniformity and eternity of atoms.
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
Wang, Shaoyun; Yang, Lijuan; Li, Jie; Mu, Yiming
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.
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
Full Text Available This article considers Turner’s depictions of fire throughout his career. Beginning with some of his very first images, including 'The Pantheon, the Morning after the Fire', it argues that while fire would eventually come to be a means for Turner to create his reputation as a painter of destruction, it also held associations of creativity, domesticity, and comfort. Furthermore, while fire was not nearly as prominent in his early work as it was in the early 1830s, it also became a means for him to elaborate issues of viewership, sublimity, and public space. Following a consideration of some of Turner’s most well-known images of fire in the 1830s, such as those in the 'Parliament' paintings, the article concludes with an extended discussion of the 1832 'Shadrach, Meshach and Abednego in the Burning Fiery Furnace'. It broadly connects the pictures of the early 1830s to the growth of mass politics and its implications.
Bahíllo-Curieses, M Pilar; Prieto-Matos, Pablo; Quiroga González, Rocío; Regueras Santos, Laura; Blanco Barrio, Amaya; Rupérez Peña, Sara
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.
Hartling, Ulla B.; Hansen, Birgit Fischer; Keeling, Jean W.
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...
Hagman, Anna; Loft, Anne; Wennerholm, Ulla-Britt
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)?...
...] 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 ownership structure for informational...
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
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
McCauley, E; Kay, T; Ito, J; Treder, R
Individuals with sex chromosomal anomalies are known to be at increased risk for learning problems and in some cases social or behavioral problems. Girls with an absent or structurally abnormal second sex chromosome (the Turner syndrome) have been found to have cognitive problem solving deficits and immature, inadequate social relationships. The present study attempted to link cognitive and social problems by assessing the girls' ability to process affective cues. 17 girls with karyotypes consistent with a diagnosis of Turner syndrome were compared to a group of 16 short-stature girls of comparable age, verbal intelligence scores, height, and family socioeconomic status on the Affective Discrimination Task, which required interpretation of affective intention from facial expression. The results revealed that the Turner syndrome girls were less accurate at inferring facial affect than the short-stature controls. Analyses revealed that the Turner syndrome girls performed more poorly on spatial, attentional, and short-term memory cognitive tasks and had more psychosocial problems than the short-stature controls. Ability to discriminate facial affect may be another area of cognitive weakness for girls with the Turner syndrome and may underlie the psychosocial problems found in this sample.
Baker, Joseph M; Reiss, Allan L
Studies investigating the relationship between Turner syndrome and math learning disability have used a wide variation of tasks designed to test various aspects of mathematical competencies. Although these studies have revealed much about the math deficits common to Turner syndrome, their diversity makes comparisons between individual studies difficult. As a result, the consistency of outcomes among these diverse measures remains unknown. The overarching aim of this review is to provide a systematic meta-analysis of the differences in math and number performance between females with Turner syndrome and age-matched neurotypical peers. We provide a meta-analysis of behavioral performance in Turner syndrome relative to age-matched neurotypical populations on assessments of math and number aptitude. In total, 112 comparisons collected across 17 studies were included. Although 54% of all statistical comparisons in our analyses failed to reject the null hypothesis, our results indicate that meaningful group differences exist on all comparisons except those that do not require explicit calculation. Taken together, these results help elucidate our current understanding of math and number weaknesses in Turner syndrome, while highlighting specific topics that require further investigation. © 2015 Mac Keith Press.
This thesis, James Joyce, Music and Memory, explores the connection between music and Irish cultural memory in Joyce’s works from Chamber Music to the “pure music” of Finnegans Wake. Overall, it shows that Joyce’s ongoing desire to emulate musical forms must be seen in light of Joyce’s wish to come to terms with Irish cultural history, as these are the driving forces that bring about his changes in style. TARA (Trinity’s Access to Research Archive) has a robust takedown policy. Please cont...
Kveiborg, Marie; Gravholt, Claus Højbjerg; Kassem, M
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 th...
Full Text Available Turner syndrome occurs in one out of every 2500-3000 live female births and the diagnosis is usually based on the clinical presentation. It is a genetic condition in which a female does not have the usual pair of two X chromosomes. Deletions of proportions of the X chromosome result in various Turner variants who have varied spectrum of clinical presentation. We report on a rare variant of deletion on long arm of X chromosome in a 35-year-old female with short stature, lack of secondary sexual characters, primary amenorrhea, average intelligence and diabetes mellitus. Chromosomal analysis using GTG-banding showed 46, X, del (X, (q13 in all cell lines. Hence, suspicion of rare variants of Turner syndrome in females must be done who present at a later age with atypical features.
To describe in practical terms the clinical management in adult life of patients with Turner syndrome. Systematic review of the literature and practical issues. An evaluation of clinical trials, meta-analysis, case reports and reviews assessing the management of different conditions related to Turner syndrome was done using the following data sources: Medline, PubMed (from 1966 to July 2014) and the Cochrane Controlled Clinical Trials Register, Embase (up to July 2014). Extracted information is summarized here on karyotype, screening of malformations, malformations debuting in adult life, final height, treatments with growth hormone, cardiovascular risk, endocrino-metabolic and liver abnormalities, sensorineural disorders and osteoporosis and its treatment. This review provides recommendations for the management of adult patients with Turner syndrome and insight into the associated medical complaints. A link between karyotypes and clinical features suggests a novel hypothesis to explain the different phenotypes and clinical abnormalities of these patients. Copyright © 2014 Elsevier Ireland Ltd. All rights reserved.
Li, Xinhang; Dong, Keyan; An, Yan; Wang, Zhenye
In order to analysis and design the Czerny-Turner structure spectrometer with the high resolution and high energy reception, various astigmatism methods of the Czerny-Turner structure are reported. According to the location of plane grating, the astigmatism correction methods are divided into two categories, one is the plane grating in divergent illumination, another is the plane grating in parallel illumination. Basing on the different methods, the anastigmatic principle and methods are analyzed, the merits and demerits of the above methods are summarized and evaluated. The theoretical foundation for design of broadband eliminating astigmatism Czerny-Turner spectrometer and the reference value for the further design work are laid by the summary and analyzing in this paper.
Kriksciuniene, Ruta; Ostrauskas, Rytas; Zilaitiene, Birute
Turner syndrome is a rare genetic disorder which impairs women's growth, reproductive function, cardiovascular development and other functions. This syndrome has been proposed as an independent risk marker for cardiovascular disease. Despite this, life-threatening cardiovascular outcomes affecting young women are dismissed because of incomplete follow up. During assessment due to their smaller stature, it should be noted that, although the ascending aorta diameter is normal in absolute terms, after indexation for body size, patients with Turner syndrome may have a dilated aorta.Based on recent guidelines and the latest studies, there is new evidence on the use of magnetic resonance imaging in diagnosing aortic lesions. New management possibilities of aortopathies have also been discussed. This approach should optimise medical care for women with Turner syndrome, but many areas of uncertainty still remain in the diagnosis and management of this syndrome, and new prospective studies are needed.
Stern, E Mark
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. (PsycINFO Database Record (c) 2012 APA, all rights reserved).
Marcus Vinicius Pinto
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.
Edie Benedito Caetano
Full Text Available Introdução: A síndrome de Parsonage-Turner (SPT ou neuralgia amiotrófica (NA foi descrita por Dreschfeld em 1887. Ela é normalmente caracterizada por crises de dor neuropática e subsequente paralisia irregular na extremidade superior, ocasionalmente associada com escápula alada; no entanto, é uma síndrome com uma ampla variedade de manifestações clínicas. Os médicos de diversas especialidades que recebem os relatos dos sintomas dessa doença por parte dos pacientes podem incorrer em um diagnóstico tardio e sucumbir a variáveis resultados.; Objetivos: A falta de controle definitivo para essa síndrome, ainda debilitante e rara, requer mais estudo e discussão, sendo o objetivo deste trabalho discutir epidemiologia, etiologia, quadro clínico, diagnóstico, diagnósticos diferenciais, tratamento e prognóstico da SPT; Metodologia: O trabalho consiste em uma revisão bibliográfica, com pesquisa em bancos de dados virtuais; Resultados: A doença apresenta uma ampla gama de manifestações clínicas, e os pacientes geralmente apresentam-se aos médicos de diferentes especialidades com queixa de dor intensa, de início súbito no ombro, que irradia para o braço ou pescoço e dura por horas ou semanas. Quando a dor desaparece, desenvolve-se uma paralisia flácida com fraqueza e atrofia muscular associada à perda sensorial da cintura escapular; Conclusões: O diagnóstico preciso pode ser desafiador e requer uma história completa e exame físico detalhado. Estudos de velocidade de condução nervosa e imagem auxiliam na avaliação. O tratamento consiste no controle sintomático. Os sintomas podem persistir durante mais do que um ano, mas a maioria dos pacientes evolui para resolução ao longo do tempo.
Kaplan, Robert M
The Irish author James Joyce is regarded as the greatest modernist writer of his time. His works, notably The Dead, A Portrait of the Artist as a Young Man, Ulysses and Finnegans Wake--are intensely autobiographic including meticulous descriptions of illness and states of health--no surprise in view of Joyce's medical history and hypochondria. The Dead revolves around the tragic love of a doomed tubercular youth. Ulysses has a graphic description of Mary Joyce-s death, a funeral and a birth; Stephen Dedalus, the character based on Joyce, attends a drinking session with medical students at the lying-in hospital just as Joyce had done as a student; references to syphilis, alcoholism and other illnesses abound.
premature menopause but did not have learning disability or dysmorphism. Whole chromosome painting revealed that the abnormal chromosome X in both sisters was duplicated chromosome X, which was inherited from their mother. Turner syndrome is characterized by absence of all or part of one X chromosome from all ...
Behringer, S.; Filistrucchi, L.
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
common to all TS, generally results in the full syndrome phe- ... Keywords. Turner syndrome; collectrin; horseshoe kidney; human genetics. Journal of ..... J. M. and Alessandrini P. 2006 Multicystic dysplastic kidney with ipsilateral abnormalities of genitourinary tract, experience in children. Urology 67, 603–607. O'Brien J.
Behringer, S.; Filistrucchi, L.
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
Mullaney, Ronan; Murphy, Declan
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…
Growth hormone deficiency in a Nigerian child with Turner's syndrome: a case report and review of growth assessment in .... when the sex hormonal influence is absent. The good thing about our ... was due to lack of oestradiol influence in amplifying the neuroendocrine regulation of pulsatile GH release, but our patient's ...
Home; Journals; Journal of Genetics; Volume 92; Issue 2. A mother with variant Turner syndrome and two daughters with trisomy X: a case report. S. Ramachandram W. T. Keng R. Ariffin V. Ganesan. Research Note Volume 92 Issue 2 August 2013 pp 313-316 ...
Trolle, Christian; Mortensen, Kristian Havmand; Bjerre, Mette
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...
Trolle, Christian; Mortensen, Kristian Havmand; Hjerrild, Britta Eilersen
Turner syndrome (TS) is characterized by numerous medical challenges during adolescence and adulthood. Puberty has to be induced in most cases, and female sex hormone replacement therapy (HRT) should continue during adult years. These issues are normally dealt with by the paediatrician, but once...
Hoven, A.T. van den; Duijnhouwer, A.L.; Eicken, A.; Aboulhosn, J.; Bruin, C. de; Backeljauw, P.F.; Demulier, L.; Chessa, M.; Uebing, A.; Veldtman, G.R.; Armstrong, A.K.; Bosch, A.E. van den; Witsenburg, M.; Roos-Hesselink, J.W.
OBJECTIVES: This study examines the outcome and procedural outcomes of percutaneous stent angioplasty for aortic coarctation in patients with Turner syndrome (TS). BACKGROUND: TS occurs in 1 in 2,500 live-born females and is associated with aortic coarctation. METHODS: In this multicenter,
Rovet, Joanne F.
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.…
Cleemann, Line; Holm, Kirsten; Kobbernagel, Hanne
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...
van Wassenaer, A. G.; Lubbers, L. J.; Losekoot, G.
Three cases of partial anomalous pulmonary venous return, in one case combined with coarctation of the aorta and in another with discrete subaortic stenosis, are described in patients with Turner syndrome. In two of them the right and left superior pulmonary veins drained into the right superior
Siddiqui, Nadir; Ali Baig, Mirza Faris; Khan, Bilal Ahmed
Turner Syndrome was diagnosed in a 45 years old female, known case of Acute Myeloid Leukaemia (AML) with maturation, on Bone Marrow biopsy. She presented with blurred vision, vertigo, exertional dyspnoea and insomnia. She did not show the typical features of Turner syndrome, but her cytogenetis confirmed the diagnosis. Bone marrow biopsy showed diffuse infiltration of blast cells with cellularity around 80-85% and haematopoietic suppression. Karyotype analysis showed: 45 X, -X, t (8; 21) (q22; q22) [According to The International System for Human Cytogenetic Nomenclature (ISCN)]. Turner syndrome is caused by partial or complete absence of second X chromosome in a female. It is known to have Cardiovascular and Reproductive complications but it is rare to find haematologic malignancies. There are few similar reported cases of AML associated with Turner syndrome, therefore this is a unique case presented to Jinnah Postgraduate Medical Center, Karachi, Pakistan and further research should be done to identify more similar cases to explore the prognostic significance of this association.
Roberts, Jane; Mazzocco, Michele M. M.; Murphy, Melissa M.; Hoehn-Saric, Rudolf
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…
Van Borsel, John; Dhooge, Inge; Verhoye, Kristof; Derde, Kristel; Curfs, Leopold
A survey of 128 females (ages 2-58) with Turner syndrome found almost one quarter were receiving or had received treatment for stuttering, articulation problems, and/or delayed language development, with the latter two disorders being checked most frequently. Only 4 or the 68 individuals receiving growth hormone treatment reported voice changes.…
A. van Teunenbroek (Arne)
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
Downey, Jennifer; And Others
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…
Juloski, Jovana; Dumančić, Jelena; Šćepan, Ivana; Lauc, Tomislav; Milašin, Jelena; Kaić, Zvonimir; Dumić, Miroslav; Babić, Marko
Turner syndrome occurs in phenotypic females with complete or partial absence of X chromosome. The leading symptom is short stature, while numerous but mild stigmata manifest in the craniofacial region. These patients are commonly treated with growth hormone to improve their final height. The aim of this study was to assess the influence of long-term growth hormone therapy on craniofacial morphology in Turner syndrome patients. In this cross-sectional study cephalometric analysis was performed on 13 lateral cephalograms of patients with 45,X karyotype and the average age of 17.3 years, who have received growth hormone for at least two years. The control group consisted of 13 Turner syndrome patients naive to growth hormone treatment, matched to study group by age and karyotype. Sixteen linear and angular measurements were obtained from standard lateral cephalograms. Standard deviation scores were calculated in order to evaluate influence of growth hormone therapy on craniofacial components. In Turner syndrome patients treated with growth hormone most of linear measurements were significantly larger compared to untreated patients. Growth hormone therapy mainly influenced posterior face height, mandibular ramus height, total mandibular length, anterior face height and maxillary length. While the increase in linear measurements was evident, angular measurements and facial height ratio did not show statistically significant difference. Acromegalic features were not found. Long-term growth hormone therapy has positive influence on craniofacial development in Turner syndrome patients, with the greatest impact on posterior facial height and mandibular ramus. However, it could not compensate X chromosome deficiency and normalize craniofacial features. Copyright © 2016 Elsevier Ltd. All rights reserved.
Simone C. S. Coelho
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
Tarim, O.; Lieber, E. [Maimonides Medical Center, Brooklyn, NY (United States)]|[Interfaith Medical Center, Brooklyn, NY (United States)
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.
Javier de Esteban Garbayo
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'.
Mazzocco, Michele M. M.; Hanich, Laurie B.
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…
Full Text Available In the present article, the role of nationalism and postcolonialism in James Joyce's Ulysses is explored. The novel is used to reveal the political and postcolonial layers of Joyce's work and represent how colonization works through politics. This helps the readers to realize more about political Joyce and to apprehend his political views as a fresh reading of his oeuvre. The significance of this article is to depict how an author from a colonized society is influenced by the colonizing forces and cultural invasions and to scrutinize the very psychology of a colonized nation. This task is done through Attridge and Howes's methodology as the theoretical framework containing key roles in analyzing the main discussion. Through analyzing Ulysses, this article clearly shows that Joyce was a part of nationalistic movements such as the Irish Revival; however he had major conflicts with some individuals and movements that claimed to be nationalists. Therefore, Joyce is concluded to be a 'semicolonial' writer who has his own specific mode of nationalism.
The James Webb Space Telescope (JWST) is a 6.6m diameter, segmented, deployable telescope for cryogenic IR space astronomy (approx.40K). The JWST Observatory architecture includes the Optical Telescope Element and the Integrated Science Instrument Module (ISIM) element that contains four science instruments (SI) including a Guider. The ISIM optical metering structure is a roughly 2.2x1.7x2.2mY, asymmetric frame that is composed of carbon fiber and resin tubes bonded to invar end fittings and composite gussets and clips. The structure supports the SIs, isolates the SIs from the OTE, and supports thermal and electrical subsystems. The structure is attached to the OTE structure via strut-like kinematic mounts. The ISM structure must meet its requirements at the approx.40K cryogenic operating temperature. The SIs are aligned to the structure s coordinate system under ambient, clean room conditions using laser tracker and theodolite metrology. The ISM structure is thermally cycled for stress relief and in order to measure temperature-induced mechanical, structural changes. These ambient-to-cryogenic changes in the alignment of SI and OTE-related interfaces are an important component in the JWST Observatory alignment plan and must be verified.
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');
Tang, Ming; Fan, Xianguang; Wang, Xin; Xu, Yingjie; Que, Jing; He, Jian
A study of the spectrum resolution, wavelength range, and primary aberration of the asymmetrical crossed Czerny-Turner spectrometer is presented by deducing the relationship between them and structural parameters of the spectrometer in a new way of thinking based on simple but effective geometric models. The analysis was verified in an experiment and simulation performed on the optical design program ZEMAX, and the obtained results agree with the analysis. Owing to the analysis, initial designed parameters of the spectrometer were given and then optimized by ZEMAX; with the instruction of the study, a small adjustment was made in the actual alignment to obtain the desired final spectrometer. The spectrometer successfully measured the last four characteristic peaks of the Raman spectrum of CCL4, which demonstrates that the research provides important guidance to the design and alignment of an asymmetrical crossed Czerny-Turner spectrometer.
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...
Jan 9, 1971 ... M. (1955): Brit. Med. J., 2, 709. 33. Turner, H. H. (1938): Endocrinology, 23, 566. 34. Varney, R. F., Kenyon, A. T. and Koch, F. C. (1942): J. Clin. Endocr., 2. 137. 35. Wilkins, L. and Fleischmann, W. (1944): Ibid., 'I, 357. 36. Wilton, E. (1969): S. Afr. J. Surg., 7, 45. 37. Zander, J. and Henning, H. D. in Overzier, ...
Kim, Yun Jung; Hong, Ki Ung
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
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...
Zhao, Jing-Chun; Xian, Chun-Jing; Yu, Jia-Ao
Literature on the complications of burns is abundant. However, there is a paucity of literature on Parsonage-Turner syndrome as a complication of contact burns. The authors described the case of a 27-year-old Chinese man who sustained contact burns on the left upper limb and the left side of the chest wall, presenting sharp intense pain and swelling of the left shoulder deriving from the diagnosis of Parsonage-Turner syndrome. On the basis of clinical findings, the authors selected conservative treatment both for the burns and brachial plexus injury. Approximately 10 days postinjury the patient was able to move his upper limb in the same range as the contralateral uninjured limb. The sensory function recovered and the numbness of the upper limb gradually disappeared. This case shows that Parsonage-Turner syndrome can occur even in second-degree burns with a small total body surface area. Therefore, careful physical examination, early recognition, and prompt treatment are essential for recovery of the injured limb.
Vineet V Mishra
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/46, XX, 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.
Wonkam, Ambroise; Veigne, Sandra W; Abass, Ali; Ngo Um, Suzanne; Noubiap, Jean Jacques N; Mbanya, Jean-Claude; Sobngwi, Eugene
To describe the features of Turner syndrome among a group of Cameroonian patients. A descriptive cross-sectional study was conducted among patients with amenorrhea and/or short stature who attended the genetic unit of Yaoundé Gynecology, Obstetrics and Pediatric Hospital (Yaoundé, Cameroon) for a specialist consultation between July 1, 2007, and December 31, 2008. Sociodemographic, clinical, and cytogenetic data were collected. Turner syndrome was confirmed among 11 of the 14 participants (seven had monosomy of the X chromosome; four had mosaicism involving a structural abnormality of the second X chromosome). The mean age at diagnosis was 18.4±2.8years. The reasons for consultation were delayed puberty (n=10) and short stature (n=1). Nine patients had a short neck, nine had a forearm carrying-angle deformity, eight had a low hairline, and two had a webbed neck. Abdominal ultrasonography identified a horseshoe kidney in two patients and a rudimentary uterus in nine patients. None of the patients displayed cardiac abnormalities. Hypergonadotropic hypogonadism was reported among five patients. Eight patients did not receive hormonal treatment owing to advanced bone age or economic reasons. Late diagnosis and variable phenotypic expression were key features of Cameroonian patients with Turner syndrome. Copyright © 2015 International Federation of Gynecology and Obstetrics. Published by Elsevier Ireland Ltd. All rights reserved.
Zeng, Wen-Heng; Xu, Jiao-Jun; Jia, Min-Yue; Ren, Yue-Zhong
To report the case of an individual with PHP, Turner syndrome and Hashimoto's thyroiditis. A 16-year-old girl was referred to our hospital with chief complaint of short stature. She presented with round chubby facies, short neck, obesity and short stature. Radiography indicated short metatarsals and metacarpals, which mainly affected the second, third and fourth digits. Biochemistry revealed hyperphosphatemia, increased serum concentrations of parathyroid hormone and thyroid stimulating hormone, elevated levels of follicular-stimulating hormone and prolactin, and increased thyroid peroxidase antibody and thyroglobulin antibody. Radiographic examination revealed delayed bone age and pelvic ultrasonography demonstrated an immature uterus. Karyotype analysis showed 46,X,i(Xq10), while molecular analysis revealed a same sense mutation in exon 5 of GNAS (ATC → ATT, Ile).The specific diagnosis was made of Turner syndrome in the presence of Hashimoto's thyroiditis and PHP. She was treated with calcium supplementation, calcitriol and thyroxine. This is the first case report to describe a combination of Turner syndrome with these other clinical entities, and their co-existence should be considered and further investigated.
Mandelberger, Adrienne; Mathews, Shyama; Andikyan, Vaagn; Chuang, Linus
To demonstrate the skills necessary for complete resection of bilateral streak gonads in Turner syndrome. Video case presentation with narration highlighting the key techniques used. The video was deemed exempt from formal review by our institutional review board. Turner syndrome is a form of gonadal dysgenesis that affects 1 in 2500 live births. Patients often have streak gonads and may present with primary amenorrhea or premature ovarian failure. Patients with a mosaic karyotype that includes a Y chromosome are at increased risk for gonadoblastoma and subsequent transformation into malignancy. Gonadectomy is recommended for these patients, typically at adolescence. Streak gonads can be difficult to identify, and tissue margins are often in close proximity to critical retroperitoneal structures. Resection can be technically challenging and requires a thorough understanding of retroperitoneal anatomy and precise dissection techniques to ensure complete removal. Laparoscopic approach to bilateral salpingo-oophorectomy of streak gonads. Retroperitoneal dissection and ureterolysis are performed, with the aid of the Ethicon Harmonic Ace, to ensure complete gonadectomy. Careful and complete resection of gonadal tissue in the hands of a skilled laparoscopic surgeon is key for effective cancer risk reduction surgery in Turner syndrome mosaics. Copyright © 2016 AAGL. Published by Elsevier Inc. All rights reserved.
Silva-Grecco, Roseane Lopes da; Trovó-Marqui, Alessandra Bernadete; Sousa, Tiago Alves de; Croce, Lilian Da; Balarin, Marly Aparecida Spadotto
To investigate the presence of Y-chromosome sequences and determine their frequency in patients with Turner syndrome. The study included 23 patients with Turner syndrome from Brazil, who gave written informed consent for participating in the study. Cytogenetic analyses were performed in peripheral blood lymphocytes, with 100 metaphases per patient. Genomic DNA was also extracted from peripheral blood lymphocytes, and gene sequences DYZ1, DYZ3, ZFY and SRY were amplified by Polymerase Chain Reaction. The cytogenetic analysis showed a 45,X karyotype in 9 patients (39.2 %) and a mosaic pattern in 14 (60.8 %). In 8.7 % (2 out of 23) of the patients, Y-chromosome sequences were found. This prevalence is very similar to those reported previously. The initial karyotype analysis of these patients did not reveal Y-chromosome material, but they were found positive for Y-specific sequences in the lymphocyte DNA analysis. The PCR technique showed that 2 (8.7 %) of the patients with Turner syndrome had Y-chromosome sequences, both presenting marker chromosomes on cytogenetic analysis.
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.
Morales, Nelson R.
The epistle of James was for years a forgotten book in academic circles. In recent decades, however, a renewed focus on early Judaism has generated interest in looking at James with new eyes. Poverty and wealth in the epistle continues to be a point of interest. Other topics, however, are still to be explored. One of these topics is the rhetorical…
Stephanie L. Hawkins
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.
Tzancheva, M; Kaneva, R; Kumanov, P; Williams, G; Tyler-Smith, C
Turner syndrome is thought to result from the haploinsufficiency of genes on the sex chromosomes, but these genes have not been identified yet. We describe two males with deleted ring Y chromosomes, one (TS) with full Turner syndrome and one (DM) without. TS has short stature, skeletal anomalies,
Full Text Available A biographical profile of Decherd Turner, director of the Bridwell Library at Southern Methodist University, Dallas, TX from 1950-80, and director of the Harry Ransom Humanities Research Center at the University of Texas in Austin from 1980-88. This profile focuses on Turner's remarkable personality and his accomplishments in building the special collections of these institutions.
Massingham, Lauren J; Johnson, Kirby L; Scholl, Thomas M; Slonim, Donna K; Wick, Heather C; Bianchi, Diana W
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.
Handler, Marc Z; Derrick, Kristina M; Lutz, Richard E; Morrell, Dean S; Davenport, Marsha L; Armstrong, April W
The absence of data on the prevalence of pilomatricoma among patients with Turner syndrome served as the catalyst for this multicenter investigation. To ascertain the prevalence of pilomatricoma among patients with Turner syndrome and to determine any association between the development of pilomatricomas and the use of exogenous hormones in patients with Turner syndrome. A retrospective medical record review from January 1, 2000, through January 1, 2010, was performed of all patients with Turner syndrome. Data on pilomatricomas and the use of hormone therapy were collected. University of California-Davis Medical Center, University of Nebraska Medical Center, and The University of North Carolina at Chapel Hill. Patients with a diagnosis of Turner syndrome. Prevalence of concomitant pilomatricoma and diagnosis of Turner syndrome. Secondary outcome measures included the use of the exogenous hormones estrogen or recombinant human growth hormone (rhGH). In total, 311 patients with Turner syndrome were identified from these 3 institutions. Among them, 8 patients (2.6%) were diagnosed as having pilomatricomas. Before the development of pilomatricomas, 5 patients had been treated with rhGH but not estrogen, 1 patient had received estrogen but not rhGH, and 2 patients did not receive either therapy. Although the prevalence of pilomatricoma among the general population is unknown, this study demonstrates a high prevalence (2.6%) of pilomatricomas among patients with Turner syndrome. No apparent relationship was noted among our patients or in the literature between the use of rhGH and the development of pilomatricomas.
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…
Mazzocco, Michele M. M.
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…
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.
Hagen, Casper P; Main, Katharina M; Kjaergaard, Susanne
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....
Kemaloglu, Tugba; Ozer, Nihat; Fikri Yapici, Mehmet
In Turner syndrome, cardiovascular complications are the most important causes of early mortality. Congenital cardiovascular abnormalities are found in approximately one third of Turner syndrome patients. Developments in diagnosis and treatment have decreased the rate of mortality related to these abnormalities. In recent years, many papers have mentioned that coronary artery disease developing at early ages in patients with Turner syndrome causes sudden deaths. The patient, a 27-year-old female was admitted to the emergency room with chest pain at rest. She was diagnosed with Turner Syndrome in her teenage years due to amenorrhea. Patients with ECG changes and cardiac enzyme elevations were treated with acute coronary syndrome. The young woman with Turner Syndrome have several risk factors for early Coronary Artery Disease development. In such cases, dramatic results like sudden death or heart attack at an early age may occur in cases of insufficient follow-up and treatment.
Los, Evan; Baines, Hayley; Guttmann-Bauman, Ines
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.
Hagen, Casper P; Main, Katharina M; Kjaergaard, Susanne
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....
Cadoret, F; Lorenzini, F; Parant, O
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. Copyright © 2014 Elsevier Masson SAS. All rights reserved.
The objective of this project was to complete the specifications and drawings for a variable speed kitchen exhaust system and the boiler heating system which when implemented will improve the heating efficiency of the building. The design work was focused in two key areas: kitchen ventilation and heating for the Ernie Turner Center building (ETC). RSA completed design work and issued a set of 100% drawings. RSA also worked with a cost estimator to put together a detailed cost estimate for the project. The design components are summarized.
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.
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.
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
Buddenbaum, Judith M.
A study was conducted to examine the journalism work of James Gordon Bennett, who founded the "New York Herald" in the 1830s, and to determine the nature of his coverage of religion before, during, and after the "Moral War" waged in 1840 against Bennett's popular newspaper. In addition, the study analyzed what Bennett's…
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.
Vijay Sheker Reddy Danda
Full Text Available Objective: Short stature is a universal clinical feature of Turner's syndrome (TS. Growth failure begins in fetal life, and adults with TS are on an average 20 cm shorter than the normal female population. Since there is a paucity of data from India regarding the effect of growth hormone (GH on TS patients, we retrospectively analyzed the data of TS patients who are on GH treatment. Methods: This hospital-based observational retrospective study was conducted in a tertiary care hospital of Hyderabad. The data such as height, weight, and bone age of 16 patients who are diagnosed with TS on GH therapy for at least 6 months were included in the study. All the patients were treated with human recombinant GH at the dose of 0.3 mg/kg/week administered as daily subcutaneous injections. Results: The mean age at diagnosis was 12.7 years. The mean height at the start of GH therapy was 1.26 m, and mean height standard deviation score (HSDS was-0.61 when compared to Turner's specific reference data. With a mean duration of GH therapy of 25 months, the mean height at the end of therapy was 1.37 m and the mean height as per HSDS was + 0.37 resulting in a mean height gain of + 0.99 HSDS. Conclusion: Our observation shows that girls with TS benefit from early diagnosis and initiation of treatment with GH.
The author was also destined during his Sabbatical Leave to have an interactive interview session with Prof James Steele after attending the 20th Annual James Steele lecture/ 99th birthday Dinner of Professor James Steele 4th and 6th April 2012 at the Texas School of Public Health, Houston, Texas, USA. The interview ...
Ghizzoni, L; Lamborghini, A; Ziveri, M; Volta, C; Panza, C; Balestrazzi, P; Bernasconi, S
To determine whether the quantitative and qualitative aspects of GH secretion in girls with Turner's syndrome are similar to those of short-normal children we studied the 24-h GH secretion of 10 patients with Turner's syndrome and 9 short-normal children with comparable auxological features. GH profiles, obtained by 30-min sampling, were analysed by the Pulsar programme. The pulsatile GH release over the 24 h in Turner's syndrome was similar to that in normal children. However, when the GH release over the 12 day and night hours were separately analysed, only normal children showed a night-time increase in the sum of peak amplitudes. Moreover, patients with Turner's syndrome had significantly decreased number and frequency of peaks in the night-time compared with short children. In short-normal children but not in Turner's syndrome, height velocity was related to the 24-h integrated concentration of GH, area under the curve over zero-line and over baseline, sum of peak areas, and amplitudes. Night-time GH area over zero-line and over baseline, mean peak amplitude, height area, sum of peak area and amplitudes were positively correlated with height velocity in short children, whereas in Turner's syndrome height velocity was related to daytime parameters only. In conclusion, girls with Turner's syndrome have a discrete pattern of pulsatile GH release. However, the relation of GH secretion to growth in these patients, is uncertain.
Jhang, Kai-Ming; Chang, Tung-Ming; Chen, Ming; Liu, Chin-San
Reports on cases of epilepsy in Turner syndrome are rare and most of them have cortical developmental malformations. We report the case of a Taiwanese patient with mosaic Turner syndrome with generalized tonic-clonic epilepsy and asymmetrical lateral ventricles but no apparent cortical anomaly. A 49-year-old Taiwanese woman without family history presented with infrequent generalized tonic-clonic epilepsy since she was 11 years old. On examination, her short stature, webbed neck, swelling of hands and feet, retrognathic face, and mild intellectual disability were noted. She had spontaneous menarche and regular menses. Brain magnetic resonance imaging showed asymmetrical lateral ventricles and diffuse subcortical white matter T2-weighted hyperintensities. Chromosome studies disclosed low aneuploid (10%) 45,X/46,XX/47,XXX mosaic Turner syndrome. There is increasing evidence that epilepsy can be an uncommon presentation of Turner syndrome. Mosaic Turner syndrome with 47, XXX probably increases the risk of epilepsy but more research is needed to reach a conclusion. This case also strengthens our knowledge that Turner syndrome can be one of the pathologic bases of asymmetrical lateral ventricles. When a patient has idiopathic/cryptogenic epilepsy or asymmetrical lateral ventricles on brain images, the presence of a mild Turner phenotype warrants further chromosome studies.
Trolle, Christian; Mortensen, Kristian H; Pedersen, Lisbeth N; Berglund, Agnethe; Jensen, Henrik K; Andersen, Niels H; Gravholt, Claus H
QT-interval prolongation of unknown aetiology is common in Turner syndrome. This study set out to explore the presence of known long QT mutations in Turner syndrome and to examine the corrected QT-interval (QTc) over time and relate the findings to the Turner syndrome phenotype. Adult women with Turner syndrome (n = 88) were examined thrice and 68 age-matched healthy controls were examined once. QTc was measured by one blinded reader (intra-reader variability: 0.7%), and adjusted for influence of heart rate by Bazett's (bQTc) and Hodges's formula (hQTc). The prevalence of mutations in genes related to Long QT syndrome was determined in women with Turner syndrome and a QTc >432.0 milliseconds (ms). Echocardiographic assessment of aortic valve morphology, 24-hour blood pressures and blood samples were done. The mean hQTc in women with Turner syndrome (414.0 ± 25.5 ms) compared to controls (390.4 ± 17.8 ms) was prolonged (pTurner syndrome karyotypes (418.2 ± 24.8 vs. 407.6 ± 25.5 ms; p = 0.055). In women with Turner syndrome and a bQTc >432 ms, 7 had mutations in major Long QT syndrome genes (SCN5A and KCNH2) and one in a minor Long QT syndrome gene (KCNE2). There is a high prevalence of mutations in the major LQTS genes in women with TS and prolonged QTc. It remains to be settled, whether these findings are related to the unexplained excess mortality in Turner women. NCT00624949. https://register.clinicaltrials.gov/prs/app/action/SelectProtocol/sid/S0001FLI/selectaction/View/ts/3/uid/U000099E.
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.
Xia, Guo; Wu, Su; Wang, Guodong; Hu, Mingyong; Xing, Jinyu
A modified optical design for a broadband, high resolution, astigmatism-free Czerny-Turner spectrometer is proposed. Astigmatism is corrected by using cylindrical mirrors over a broad spectral range. The theory and method for astigmatism correction are thoroughly analyzed. The comparison between the modified Czerny-Turner spectrometer and the traditional Czerny-Turner spectrometer is also described in detail. The ray-tracing results show that the RMS spot radius has decreased to 4.2 μm at the central wavelength and 17 μm at the wedge wavelength.
Cliver, Edward W.; Lang, Kenneth R.; Willson, Robert F.
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
Pérez-de la Cruza, Sagrario
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.
Research methods based on spectral analysis have powerful impact on development in many field of science. Signal spectrum can be a source of useful and important data. It enables to obtain information about physical and chemical properties of tested materials. This paper has been devoted to describe optical design for high resolution spectrometer, which is significant element of optical coherence tomography (OCT) systems. Designed spectrometer is working in visible range (450-830 nm). Czerny-Turner configuration enables to correcting astigmatism and coma aberration over full bandwidth. Moreover, spectrometer has uncomplicated construction. Merely, two mirrors and diffraction gratings allows to design low - cost spectrometer with satisfying optical properties. Spectrum detection has been realized using CMOS line scan sensors with 6144 pixels. It provides high speed and resolution of the system.
Shankar, Roopa Kanakatti; Backeljauw, Philippe F.
Turner syndrome (TS) is characterized by partial or complete loss of the second X-chromosome in phenotypic females resulting in a constellation of clinical findings that may include lymphedema, cardiac anomalies, short stature, primary ovarian failure and neurocognitive difficulties. Optimizing health care delivery is important to enable these individuals achieve their full potential. We review the current best practice management recommendations for individuals with TS focusing on the latest consensus opinion in regard to genetic diagnosis, treatment of short stature, estrogen supplementation, addressing psychosocial issues, as well screening for other comorbidities. A multidisciplinary approach and a well-planned transition to adult follow-up care will improve health care delivery significantly for this population. PMID:29344338
Magara, Shin-Ichi; Kawashima, Hideshi; Kobayashi, Yu; Akasaka, Noriyuki; Yamazaki, Sawako; Tohyama, Jun
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. Copyright © 2014 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.
Full Text Available After detail examination of 24-year-old female patient (cariotype — 46XX/45XO, sex chromatin — 11 %, serum prolactin level — more than 200 mIU/ml (normal level — less than 26,72, ovarian ultrasound, geneticist consultation, magnetic resonance imaging of the hypophysis, the сlinical diagnosis was established: pituitary microadenoma. Hyperprolactinemic hypogonadism. Mosaic Turner syndrome. Genital infantilism. Infertility of endocrine origin. First menstruation occurred in 3 months, and pregnancy — in 4 month after initiation of the treatment with alactin 0.5 mg twice a week, after that bromocriptine 2.5 mg once a day was administered. On the 39–40th week of pregnancy, the patient gave birth to a girl (via cesarean section, whose weight was 3.4 kg and height — 48 cm.
Bessie E Spiliotis
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
Noe, Jacob A.; Burton, Edward M.; Pittman, Heather C.
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.)
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)
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.)
Kaczorowska, Ewa; Zimowski, Janusz; Cichoń-Kotek, Monika; Mrozińska, Agnieszka; Purzycka, Joanna; Wierzba, Jolanta; Limon, Janusz; Lipska-Ziętkiewicz, Beata S
Turner syndrome is a relatively common chromosomal disorder which affects about one in 2000 live born females. Duchenne muscular dystrophy is an X-linked recessive disorder affecting 1:3600 live born males. Considering the above, the coexistence of these two diseases may occur only anecdotally. Here, we report a 4 ½ year-old female with classical 45,X Turner syndrome who also had Duchenne muscular dystrophy caused by a point mutation in the dystrophin gene (c.9055delG). The patient showed the typical phenotype of Turner syndrome including distinctive dysmorphic features (short neck, low posterior hairline, wide position of nipples), aortic coarctation and feet lymphedema. Besides, she presented with an unusually early beginning of muscular dystrophy symptoms with infantile-onset motor developmental delay, intellectual disability and early calf muscular hypertrophy. The coexistence of an X-linked recessive disorder should be considered in women affected by Turner syndrome presenting with additional atypical clinical features.
Roelofs, R.L.; Wingbermühle, P.A.M.; Freriks, K.; Verhaak, C.M.; Kessels, R.P.C.; Egger, J.I.M.
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
Gravholt, Claus Højbjerg; Poulsen, Henrik Enghusen; Ott, Peter
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....
Contreras Martínez, Ramiro; Garduño Mejía, Jesús; Rosete Aguilar, Martha; Román Moreno, Carlos J.
We propose the design of a new technique for measuring the spectral resolution of a Czerny-Turner Spectrometer based on spectral interferometry of ultrashort laser pulses. It is well known that ultrashort pulse measurement like SPIDER and TADPOLE techniques requires a precise and well characterized spectrum, especially in fringe resolution. We developed a new technique, to our knowledge, in which by measuring the nominal fringe spacing of a spectral interferogram one can characterize the spectral resolution in a Czerny-Turner spectrometer using Ryleigh's criteria. This technique was tested in a commercial Czerny-Turner spectrometer. The results demonstrate a consistent spectral resolution between what was reported by the manufacturer. The actual calibration technique was applied in a homemade broadband astigmatism-free Czerny-Turner spectrometer. Theory and experimental results are presented.
Roelofs, R.L.; Wingbermühle, P.A.M.; Freriks, K.; Verhaak, C.M.; Kessels, R.P.C.; Egger, J.I.M.
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
Roelofs, R.L.; Wingbermühle, P.A.M.; Freriks, K.; Verhaak, C.M.; Kessels, R.P.C.; Egger, J.I.M.
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
Gravholt, Claus Højbjerg; Poulsen, Henrik Enghusen; Ott, Peter
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....
Kubba, H; Smyth, A; Wong, S C; Mason, A
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.
Tapisiz, Omer Lutfi; Topcu, Onur; Gungor, Tayfun; Ozdal, Bulent; Sirvan, Levent; Yesilyurt, Ahmet
Two types of gynecologic tumors are commonly described in the Turner syndrome, the first one is gonadoblastoma, which occurs in patients with Y chromosome abnormalities, and the second one is endometrial carcinoma which is mostly related with exogenous estrogen usage. Here, we describe an extremely rare case of squamous cell carcinoma of the vulva in a virgin woman with Turner syndrome. A 35-years old single, virgin woman referred to our Oncology Department with warty, necrotized, exophytic 6-7 cm vulvar mass. She had a history of primary amenorrhea and mosaic Turner syndrome was determined in her karyotype analysis. Biopsy specimen of the vulvar mass revealed squamous cell carcinoma of the vulva, and total vulvectomy with inguinal femoral lymphadenectomy was performed. The postoperative course was uneventful and there has been no recurrence of the disease up to date. Women with Turner syndrome have streak ovaries that produce very low estrogen and the squamous cell carcinoma of the vulva may have developed at an early age with Turner syndrome because of this low estrogen value similar to postmenopausal women. The current case is a special case due to its age of occurrence, virgin and Turner syndrome status.
Amedro, Pascal; Tahhan, Nabil; Bertet, Helena; Jeandel, Claire; Guillaumont, Sophie; Mura, Thibault; Picot, Marie-Christine
The aim of the study was to assess health-related quality of life (HR-QoL) in children with Turner syndrome in comparison with controls. We prospectively recruited 16 female girls with Turner syndrome (mean age 15.2±2.6 years) and 78 female controls (mean age 12.7±2.8 years) in randomly selected schools. We used the PedsQL, a generic HR-QoL questionnaire (self and parents' versions). Global HR-QoL scores in Turner syndrome were lower than controls for self-reports (respectively, 74.3±3.0 vs. 82.8±1.3, p=0.01) and parents' reports (62.7±3.8 vs. 80.1±1.7, pTurner syndrome, self-reported HR-QoL was impaired in school functioning (70.6±4.0 vs. 80.71±1.7, p=0.02), social functioning (78.2±4.0 vs. 90.4±1.8, pTurner syndrome, as in previously reported adult studies. In addition to medical treatment and routine clinical follow-up, female girls and teenagers with Turner syndrome should also be supported psychologically by social, educational and psychotherapeutic interventions that aim to address their self-esteem and emotional difficulties.
Bouchlariotou, Sofia; Tsikouras, Panagiotis; Dimitraki, Marina; Athanasiadis, Apostolos; Papoulidis, Ioannis; Maroulis, George; Liberis, Anastasios; Liberis, Vasileios
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.
De Groote, Katya; Demulier, Laurent; De Backer, Julie; De Wolf, Daniel; De Schepper, Jean; Tʼsjoen, Guy; De Backer, Tine
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.
Hori, Yusuke S; Ohkura, Takahiro; Ebisudani, Yuki; Umakoshi, Michiari; Ishi, Masato; Oda, Kazunori; Aoi, Mizuho; Inoue, Takushi; Furujo, Mahoko; Tanaka, Hiroyuki; Fukuhara, Toru
Turner syndrome is a chromosomal disorder usually caused by complete deletion of an X chromosome, with deletion in the short arm of the X chromosome being a rare cause of the condition. Patients with Turner syndrome commonly develop hypertension, and associated vascular complications such as aortic dissection or cerebral hemorrhage have been reported. Cerebral hemorrhage in Turner syndrome is a rare complication, and only a few reports have been published. In these reports, all patients have XO karyotypes or a mosaic type as the cause of Turner syndrome, while no other Turner syndrome types have been documented. In this report, we present for the first time a patient with Turner syndrome caused by deletion in the short arm of the X chromosome who experienced hypertensive hemorrhage as a late complication. © 2017 S. Karger AG, Basel.
White, Vincent E.; Prakken, Lawrence B.
Information concerning the availability, use, and quality of water in St. James Parish, Louisiana, is critical for proper water-supply management. The purpose of this fact sheet is to present information that can be used by water managers, parish residents, and others for stewardship of this vital resource. Information on the availability, past and current use, use trends, and water quality from groundwater and surface-water sources in the parish is presented. Previously published reports and data stored in the U.S. Geological Survey’s National Water Information System (http://waterdata.usgs.gov/nwis) are the primary sources of the information presented here.
The Silver Swan (ill. 25) is a life-sized automaton that has been in the Bowes Museum in the northern English town of Barnard Castle since 1872. It was first exhibited in 1773 by the jeweller and entrepreneur James Cox (c. 1723-1800), as part of his « museum » of musical clocks and automata in Spring Gardens, London. Before considering the Swan itself, it is important to understand the unusual circumstances which led to its creation. Figure 25 - Silver Swan, c. 1773 H. 80 cm © Bowes Museum, ...
O'Gorman Clodagh S
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.
Juur, Mart, 1964-
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"
Bouayed Abdelmoula, Nouha; Abdelmoula, Balkiss; Smaoui, Walid; Trabelsi, Imen; Louati, Rim; Aloulou, Samir; Aloulou, Wafa; Abid, Fatma; Kammoun, Senda; Trigui, Khaled; Bedoui, Olfa; Denguir, Hichem; Mallek, Souad; Ben Aziza, Mustapha; Dammak, Jamila; Kaabi, Oldez; Abdellaoui, Nawel; Turki, Fatma; Kaabi, Asma; Kamoun, Wafa; Jabeur, Jihen; Ltaif, Wided; Chaker, Kays; Fourati, Haytham; M'rabet, Samir; Ben Ameur, Hedi; Gouia, Naourez; Mhiri, Mohamed Nabil; Rebai, Tarek
In the era of the diseasomes and interactome networks, linking genetics with phenotypic traits in Turner syndrome should be studied thoroughly. As a part of this stratagem, mosaicism of both X and Y chromosome which is a common finding in TS and an evaluation of congenital heart diseases in the different situations of mosaic TS types, can be helpful in the identification of disturbed sex chromosomes, genes and signaling pathway actors. Here we report the case of a mosaic TS associated to four left-sided CHD, including BAV, COA, aortic aneurysms and dissections at an early age. The mosaicism included two cell lines, well-defined at the cytogenetic and molecular levels: a cell line which is monosomic for Xp and Xq genes (45,X) and another which is trisomic for pseudoautosomal genes that are present on the X and Y chromosomes and escape X inactivation: 45,X/46,X,idic(Y)(pter→q11.2::q11.2→pter). This case generates two hypotheses about the contribution of genes linked to the sex chromosomes and the signaling pathways involving these genes, in left-sided heart diseases. The first hypothesis suggests the interaction between X chromosome and autosomal genes or loci of aortic development, possibly dose-dependent, and which could be in the framework of TGF-β-SMAD signaling pathways. The second implies that left-sided congenital heart lesions involve sex chromosomes loci. The reduced dosage of X chromosome gene(s), escaping X inactivation during development, contributes to this type of CHD. Regarding our case, these X chromosome genes may have homologues at the Y chromosome, but the process of inactivation of the centromeres of the isodicentric Y spreads to the concerned Y chromosome genes. Therefore, this case emerges as an invitation to consider the mosaics of Turner syndrome and to study their phenotypes in correlation with their genotypes to discover the underlying developmental and genetic mechanisms, especially the ones related to sex chromosomes.
Alexandra - Denisa IGNA
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
Full Text Available QT-interval prolongation of unknown aetiology is common in Turner syndrome. This study set out to explore the presence of known long QT mutations in Turner syndrome and to examine the corrected QT-interval (QTc over time and relate the findings to the Turner syndrome phenotype.Adult women with Turner syndrome (n = 88 were examined thrice and 68 age-matched healthy controls were examined once. QTc was measured by one blinded reader (intra-reader variability: 0.7%, and adjusted for influence of heart rate by Bazett's (bQTc and Hodges's formula (hQTc. The prevalence of mutations in genes related to Long QT syndrome was determined in women with Turner syndrome and a QTc >432.0 milliseconds (ms. Echocardiographic assessment of aortic valve morphology, 24-hour blood pressures and blood samples were done.The mean hQTc in women with Turner syndrome (414.0 ± 25.5 ms compared to controls (390.4 ± 17.8 ms was prolonged (p432 ms, 7 had mutations in major Long QT syndrome genes (SCN5A and KCNH2 and one in a minor Long QT syndrome gene (KCNE2.There is a high prevalence of mutations in the major LQTS genes in women with TS and prolonged QTc. It remains to be settled, whether these findings are related to the unexplained excess mortality in Turner women.NCT00624949. https://register.clinicaltrials.gov/prs/app/action/SelectProtocol/sid/S0001FLI/selectaction/View/ts/3/uid/U000099E.
Ibarra-Gasparini, Daniela; Altieri, Paola; Scarano, Emanuela; Perri, Annamaria; Morselli-Labate, Antonio M; Pagotto, Uberto; Mazzanti, Laura; Pasquali, Renato; Gambineri, Alessandra
To explore the characteristics of diabetes mellitus in adults with Turner syndrome. Observational study consisting of a prospective phase after the access of adults with Turner syndrome to the Endocrinology Unit (median period of follow-up 15.6, interquartile range: 12.0-24.5 months) and a retrospective collection of data from the diagnosis of Turner syndrome until the time of access to the Endocrinology Unit. A total of 113 Italian Turner syndrome patients were included in the study. During the prospective phase of the study, each patient underwent physical examination, fasting blood sampling, and an oral glucose tolerance test on a yearly basis. Oral glucose tolerance test was used to perform the diagnosis of diabetes mellitus. Before access to the Endocrinology Unit, diabetes mellitus was diagnosed in two Turner syndrome patients. Another five cases of diabetes mellitus were diagnosed at the first access to the Endocrinology Unit, whereas seven new cases of diabetes mellitus were diagnosed during the prospective phase of the study. At the diagnosis of diabetes mellitus, only one patient had fasting glucose above 126 mg/dL, and only two had an HbA1c value >6.5% (48 mmol/mol). When compared to normo-glucose tolerant patients, the diabetic patients had a significantly lower insulin-to-glucose ratio at 30 and 60 min of the oral glucose tolerance test. In the regression analyses, only age was associated with the development of diabetes mellitus. This study confirms that diabetes mellitus is frequent in Turner syndrome and suggests that it is specific to the syndrome. In addition, this study demonstrates that oral glucose tolerance test is a more sensitive test than HbA1c for the diagnosis of diabetes mellitus in Turner syndrome.
Kwon, Ahreum; Hyun, Sei Eun; Jung, Mo Kyung; Chae, Hyun Wook; Lee, Woo Jung; Kim, Tae Hyuk; Kim, Duk Hee; Kim, Ho-Seong
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.
Lippe, B; Rosenfeld, R G; Hintz, R L; Johanson, A J; Frane, J; Sherman, B
This report extends to 3 years the prospective study of the effects of somatrem alone or in combination with oxandrolone on growth in Turner's syndrome. Sixty-seven patients completed the 1-year study period during which all treatment groups had statistically increased height velocities as compared to the control group. Oral glucose tolerance and insulin responses remained unchanged after 1 year of somatrem treatment. The group receiving oxandrolone experienced an increase in integrated glucose response and the group receiving combined therapy an increase in both integrated glucose and insulin responses. During the second and third years the somatrem group remained on the same dose and treatment schedule and grew at mean velocities of 5.4 +/- 1.1 and 4.6 +/- 1.4 cm/year. The dose of oxandrolone was reduced by 50% during the second and third years for the combination group. The somatrem dose remained unchanged. This group had height velocities of 7.4 +/- 1.4 cm and 6.1 +/- 1.5 cm/year. The control group and the group treated with oxandrolone alone were converted to combined therapy at the lowered oxandrolone dose. Their growth rates during the second year were 8.3 +/- 1.2 and 7.1 +/- 1.6 cm/year, respectively. Using bone age determinations and the methods of Bayley and Pinneau, all groups currently show predicted increases in final adult height.
Schreiber, Adam L; Abramov, Ronnen; Fried, Guy W; Herbison, Gerald J
A 44-year-old man was in his car when it was rear-ended in a minor motor vehicle collision, during which his right forearm contacted the steering wheel. Shortly thereafter, pain in his right shoulder developed, but initial work-up was unremarkable. His pain progressed to shoulder girdle weakness over several months and did not improve after 2.5 years. At the time of consultation, he complained of right-sided neck pain radiating to the right deltoid muscle and axilla as well as right shoulder blade pain with shoulder girdle weakness. Repeated electrodiagnostic studies revealed denervation limited to the serratus anterior and right deltoid muscles without evidence of cervical radiculopathy. He was diagnosed with Parsonage-Turner syndrome, which is a neurologic condition characterized by acute onset of shoulder and arm pain followed by weakness and sensory disturbance. The authors review patient presentation, physical examination, and work-up needed for diagnosis of this syndrome to help physicians avoid administering unnecessary tests and treatment.
Lucaccioni, Laura; Wong, Sze Choong; Smyth, Arlene; Lyall, Helen; Dominiczak, Anna; Ahmed, S Faisal; Mason, Avril
Turner syndrome (TS) is associated with a spectrum of health problems across the age span, which requires particular attention during the transition period in these adolescents. The majority of girls with TS require oestrogen replacement from puberty onwards, which is important for adequate feminization, uterine development and maintenance of bone health. There is a lifetime increased risk from autoimmune conditions like hypothyroidism, coeliac disease, hearing loss and aortic dilatation with the potential to lead to aortic dissection. A systematic and holistic approach to provision of health care in TS is needed. Several unanswered questions remain, including the choice of hormone replacement therapy in the young person with TS and in adulthood; the optimal mode of cardiovascular assessment; the best management and assessment prior to and during pregnancy. The optimal model of care and transition to adult services in TS requires attention. Further research is needed in relation to cardiovascular risk assessment, pregnancy management and hormone replacement therapy in TS. © The Author 2014. Published by Oxford University Press. All rights reserved. For permissions, please e-mail: email@example.com.
Chae Young Yeo
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.
Cindy W. Yoon
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.
Fox, Emily; Riconscente, Michelle
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…
Haslam, S Alexander; Reicher, Stephen D; Reynolds, Katherine J
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. ©2012 The British Psychological Society.
Prakash, Siddharth; Guo, Dongchuan; Maslen, Cheryl L; Silberbach, Michael; Milewicz, Dianna; Bondy, Carolyn A
Turner syndrome is a developmental disorder caused by partial or complete monosomy for the X chromosome in 1 in 2,500 females. We hypothesized that single-nucleotide polymorphism (SNP) array genotyping could provide superior resolution in comparison to metaphase karyotype analysis to facilitate genotype-phenotype correlations. We genotyped 187 Turner syndrome patients with 733,000 SNP marker arrays. All cases met diagnostic criteria for Turner syndrome based on karyotypes (60%) or characteristic physical features. The SNP array results confirmed the diagnosis of Turner syndrome in 100% of cases. We identified a single X chromosome (45,X) in 113 cases. In 58 additional cases (31%), other mosaic cell lines were present, including isochromosomes (16%), rings (5%), and Xp deletions (8%). The remaining cases were mosaic for monosomy X and normal male or female cell lines. Array-based models of X chromosome structure were compatible with karyotypes in 104 of 116 comparable cases (90%). We found that the SNP array data did not detect X-autosome translocations (three cases) but did identify two derivative Y chromosomes and 13 large copy-number variants that were not detected by karyotyping. Our study is the first systematic comparison between the two methods and supports the utility of SNP array genotyping to address clinical and research questions in Turner syndrome.
Lepage, Jean-François; Lortie, Mélissa; Deal, Cheri L; Théoret, Hugo
Turner syndrome is a genetic condition resulting from the partial or complete absence of an X-chromosome in phenotypic females. Individuals with Turner syndrome often display social difficulties that are reminiscent of those associated with autistic spectrum disorders (ASD), conditions associated with empathy and mirror-neuron system (MNS) deficits. The goal of the present study was (1) to investigate the extent to which adults with Turner syndrome display autistic and empathic traits, and (2) to probe the integrity of the MNS in this neurogenetic disorder. Sixteen individuals with Turner syndrome and 16 age-, sex-, and IQ-matched controls took part in a neuropsychological assessment where the Weschler Abbreviated Scale of Intelligence, the Autism Spectrum Quotient and the Empathy Quotient were administered. Functioning of the MNS was assessed by measuring motor cortex activity with transcranial magnetic stimulation during an action-observation task. Results show that individuals with Turner syndrome do not differ significantly from controls regarding autistic or empathic traits, and present normal functioning of the MNS during action observation. Correlational analysis showed a significant positive relationship between scores on the Empathy Quotient and motor facilitation during action observation, bringing further support to the hypothesis that MNS activity is related to sociocognitive competence.
Lee, Sun Hee; Jung, Ji Mi; Song, Min Seob; Choi, Seok jin; Chung, Woo Yeong
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.
Hawkins, Stephanie L.
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
Hrbáček, Filip; Uxa, Tomáš
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
Beaton, Elliott A.; Stoddard, Joel; Lai, Song; Lackey, John; Shi, Jianrong; Ross, Judith L.; Simon, Tony J.
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…
Gravholt, Claus Højbjerg; Naeraa, Rune Weis; Andersson, Anna-Maria
The aim of this study was to assess levels of inhibin A and B, FSH and LH in Turner's syndrome (TS) without signs of spontaneous ovarian activity.......The aim of this study was to assess levels of inhibin A and B, FSH and LH in Turner's syndrome (TS) without signs of spontaneous ovarian activity....
... 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 rate...
... 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 for...
Mazzocco, Michele M. M.
This study examined whether indicators of math learning disability were observed in 35 5- and 6-year-olds with either neurofibromatosis, Turner Syndrome, or fragile X syndrome and compared to controls. Findings indicate that girls with fragile X or Turner syndrome but not neurofibromatosis are significantly more likely to have specific math…
Mazzocco, Michèle M M; Thompson, Laurie; Sudhalter, Vicki; Belser, Richard C; Lesniak-Karpiak, Katarzyna; Ross, Judith L
Fragile X and Turner syndromes are associated with risk of atypical social function. We examined language use, including normal and atypical speech, during initial social interactions among participants engaged in a brief social role play with an unfamiliar adult. There were 27 participants with Turner syndrome, 20 with fragile X syndrome and 28 in an age-matched comparison group. Females with fragile X did not exhibit more abnormal language, but exhibited less of what is typical during initial interactions. Overall rates of dysfluencies did not differ, although females with fragile X made more phrase repetitions. Females with Turner syndrome had no language use abnormalities. Our findings suggest that language use may influence social function in females with fragile X syndrome and that such language characteristics may be observed in the context of brief encounters with an unfamiliar adult.
Ye Zhiqiu; Guo Qinglu; Feng Changzheng; Wei Beiyang; Xiao Wei; Liu Yongxi; Zhang Yan
Objective: To research the clinical and osteal radiology imaging features in Turner's syndrome. Methods: Analyzed the clinical and osteal radiology imaging features of 15 Turner's syndrome. Results: 15 patients were Karyotyped into 3 groups I, 45, X, n=8; II, 46, XX, n=5; III, 46, XX/45, X, n = 2. Radiology imaging features: osteo-porosis, n=14; metacarpal sign, n=8; phahanx, n=9; cubitus valgus, n=10; vertebra steodystrophia, n=5; brachy-dactylya, n=9; basilar impression malformation, n=11. Conclusion: The terminal heights of Turner' s patients were marked lower than normal growth, hormone was deficiency, learning ability declined and the sex gland was hypoplastic. The typical imaging feature do main reference value to diagnosis. (authors)
Białka, Agnieszka; Gawlik, Aneta; Drosdzol-Cop, Agnieszka; Wilk, Krzysztof; Małecka-Tendera, Ewa; Skrzypulec-Plinta, Violetta
Turner syndrome is a common chromosomal disorder, with an incidence of 1 in 2000 live-born female infants. Mayer-Rokitansky-Küster-Hauser syndrome (MRKH) affects 1 in 4500 female births and, rarely, it might be associated with gonadal dysgenesis. A 17-year-old girl was referred to our clinic with short stature and primary amenorrhea. The patient was diagnosed with Turner syndrome and underwent estrogen therapy. At the age of 24 years, just after the patient's sexual initiation, the first complete gynecological examination was performed. A blind-ending vagina was revealed and the patient was diagnosed with MRKH. Early diagnosis of coexistence of MRKH and Turner syndrome, although very difficult, might prevent patients from developing serious complications. Copyright © 2016 North American Society for Pediatric and Adolescent Gynecology. Published by Elsevier Inc. All rights reserved.
Xue, Dan; Cao, Dong-Hua; Mu, Kai; Lv, Yuan; Yang, Jun
Turner syndrome, characterized by the presence of a monosomy X cell line, is a common chromosomal disorder. Patients with Turner syndrome are usually phenotypically female, and male cases are rarely reported. Here, we report a fetus with a mosaic karyotype: mos 45,X/46,X,del(Y)(q11.21). The fetus was initially misdiagnosed as female with Turner syndrome by both noninvasive prenatal testing and cytogenetic analysis of amniotic fluid and was subsequently found to have male anatomy by antenatal ultrasonography at 24 weeks gestational age. Through single nucleotide polymorphism-array and fluorescence in situ hybridization testing, we found that there was a truncated Y chromosome with sex-determining region Y (SRY) present in some cells of the fetus, which caused the male features in the fetus. © 2018 Japan Society of Obstetrics and Gynecology.
Minzala, G; Ismail, G
Systemic lupus erythematosus (SLE) is a chronic disease caused by an aberrant autoimmune response, with a large spectrum of clinical manifestations. It strikingly affects women. Recent papers reveal that the men with Klinefelter syndrome (47, XXY) have a higher incidence of lupus than the men in the general population, similar with that of genotypic females. On the other hand, there is a great lack of information regarding the association of SLE with Turner syndrome, but it seems to be a lower risk for females with Turner to develop SLE. We present a rare association of a Turner syndrome with SLE, with negative immunology for SLE and with diagnosis made on renal biopsy. These data suggest that the presence of two X chromosomes may predispose to SLE, the ligand (CD40 ligand) for one of the genes that contributes to the pathogenesis of SLE being located on the X chromosome. © The Author(s) 2016.
Ismail, Manal F; Zarouk, Waheba A; Ruby, Mona O; Mahmoud, Wael M; Gad, Randa S
Folate metabolism dysfunctions can result in DNA hypomethylation and abnormal chromosome segregation. Two common polymorphisms of the methylenetetrahydrofolate reductase (MTHFR) encoding gene (C677T and A1298C) reduce MTHFR activity, but when associated with aneuploidy, the results are conflicting. Turner Syndrome (TS) is an interesting model for investigating the association between MTHFR gene polymorphisms and nondisjunction because of the high frequency of chromosomal mosaicism in this syndrome. To investigate the association of MTHFR gene C677T and A1298C polymorphisms in TS patients and their mothers and to correlate these polymorphisms with maternal risk of TS offspring. MTHFR C677T and A1298C polymorphisms were genotyped in 33 TS patients, their mothers and 15 healthy females with their mothers as controls using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and sequencing technique. Genotype and allele frequencies of both C677T and A1298C were not significantly different between TS cases and controls. There were no significant differences in C677T genotype distribution between the TS mothers and controls (p=1). The MTHFR 1298AA and 1298AC genotypes were significantly increased in TS mothers Vs. control mothers (p=0.002). The C allele frequency of the A1298C polymorphism was significantly different between the TS mothers and controls (p=0.02). The association of A1298C gene polymorphism in TS patients was found to increase with increasing age of both mothers (p=0.026) and fathers (p=0.044) of TS cases. Our findings suggest a strong association between maternal MTHFR A1298C and risk of TS in Egypt.
Wong, Sze Choong; Burgess, Trent; Cheung, Michael; Zacharin, Margaret
To determine the prevalence of Turner syndrome in girls presenting with coarctation of the aorta (CoA). A total of 132 girls with known structural CoA was identified. Those girls who had no previous karyotype analysis performed were asked to participate in a research study in which a banded karyotype with 50-cell count was performed. Of 132 girls with CoA, 55 (41.7%) had karyotype analysis within 6 months of cardiac diagnosis. Three girls underwent karyotyping later because of clinical concerns. Of the 74 girls with CoA who had not had a karyotype, 38 (51.4%) consented to the study. Results were available for 37 girls. All were 46,XX. Five patients with Turner syndrome were identified in the 95 girls with CoA who had karyotype analysis (4 from early karyotype and 1 diagnosed later), which translated into a minimum prevalence of 5.3% of Turner syndrome in this group of girls with CoA. In addition, one infant with a 20-cell 46,XX karyotype had features of Turner syndrome. Our study demonstrated for the first time in a large cohort that 5.3% of girls presenting with CoA are found to have Turner syndrome when karyotyping is performed. Given the spectrum of preventable and treatable health problems after the diagnosis of Turner syndrome, we believe that all girls with CoA should have a karyotype analysis, ideally with at least 50-cell count, at the time of diagnosis of CoA. Copyright © 2014 Mosby, Inc. All rights reserved.
Oktay, Kutluk; Bedoschi, Giuliano; Berkowitz, Karen; Bronson, Richard; Kashani, Banafsheh; McGovern, Peter; Pal, Lubna; Quinn, Gwendolyn; Rubin, Karen
In this article we review the existing fertility preservation options for women diagnosed with Turner syndrome and provide practical guidelines for the practitioner. Turner syndrome is the most common sex chromosome abnormality in women, occurring in approximately 1 in 2500 live births. Women with Turner syndrome are at extremely high risk for primary ovarian insufficiency and infertility. Although approximately 70%-80% have no spontaneous pubertal development and 90% experience primary amenorrhea, the remainder might possess a small residual of ovarian follicles at birth or early childhood. The present challenge is to identify these women as early in life as is possible, to allow them to benefit from a variety of existing fertility preservation options. To maximize the benefits of fertility preservation, all women with Turner syndrome should be evaluated by an expert as soon as possible in childhood because the vast majority will have their ovarian reserve depleted before adulthood. Cryopreservation of mature oocytes and embryos is a proven fertility preservation approach, and cryopreservation of ovarian tissue is a promising technique with a growing number of live births, but remains investigational. Oocyte cryopreservation has been performed in children with Turner syndrome as young as 13 years of age and ovarian tissue cryopreservation in affected prepubertal children. However, current efficacy of these approaches is unknown in this cohort. For those who have already lost their ovarian reserve, oocyte or embryo donation and adoption are strategies that allow fulfillment of the desire for parenting. For those with Turner syndrome-related cardiac contraindications to pregnancy, use of gestational surrogacy allows the possibility of biological parenting using their own oocytes. Alternatively, gestational surrogacy can serve to carry pregnancy resulting from the use of donor oocytes or embryos, if needed. Copyright © 2016 North American Society for Pediatric and
Arslansoyu-Çamlar, Seçil; Soylu, Alper; Abacı, Ayhan; Türkmen, Mehmet Atilla; Ülgenalp, Ayfer; Kavukçu, Salih
Horseshoe kidney is the most frequent renal fusion anomaly that is usually asymptomatic and isolated malformation. However it can be seen with various syndromes and chromosomal anomalies. It was reported that 15-35% of Turner syndrome cases (TS) also display horseshoe kidney condition. TS is a chromosomal anomaly that had been characterized by delayed puberty, short body height and gonadal dysgenesis. In this report a five-year-old girl with horseshoe kidney, which has growth retardation during follow-up as only symptom of Turner syndrome.
Annelise Barreto Carvalho
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
The book, which is an analysis and not an advocacy, examines the anatomy of the controversy that has swirled around the James Bay project - the La Grande and Great Whale projects combined - from the 1970s to the 1990s, and seeks, in the process, to determine whether there are lessons that can be learned from such an analysis that are applicable to other cases as well as to James Bay itself. The contributors are interested, at one and the same time, in finding ways to integrate the knowledge of natural scientists and social scientists to deepen the understanding of human/environment relations and to link science and policy to encourage a productive dialogue between practitioners and scholars in this increasingly important area of inquiry. The contributor's papers include the following: introduction to the issues; hydroelectric power development at James Bay: establishing a frame of reference; James Bay: environmental considerations for building large hydroelectric dams and reservoirs in Quebec; elevated mercury in fish as a result of the James Bay hydroelectric power development: perception and reality; the Cree people of James Bay: assessing the social impacts of hydroelectric dams and reservoirs; culture, social change, and Cree opposition to the James Bay hydroelectric development; and the impact of James Bay hydroelectric development on the art and craft of the James Bay Cree. The authors of the volume have attempted to stand back and examine just a few of these issues from the perspective of a variety of disciplines, and their purpose is to inform and stimulate thoughtful consideration by providing an overall perspective that might might serve to broaden the context in which specific issues can be debated. refs., 3 tabs., 5 figs
Lígia Z. C. Suzigan
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
Bhattacharyya, Kalyan B
James Papez worked on the anatomical substrates of emotion and described a circuit, mainly composed of the hippocampus, thalamus and cingulum, and published his observations in 1937. However, such an idea existed before him, as evidenced by the rudimentary indications from Paul Broca, and Paul MacLean added some other structures like, septum, amygdala, and hypothalamus in its ambit and called it the limbic system. Paul Ivan Yakovlev, proposed a circuit which also referred to orbitofrontal, insular, anterior temporal lobe, and other nuclei of thalamus. Further works hinted at cerebellar projections into this system and the clinical picture of aggression, arousal and positive feeding responses with stimulation of cerebellar nuclei, attests its possible role. Finally, the work of Heinrich Klüver and Paul Bucy of the United States of America on ablating the temporal lobes and amygdala and the resultant behaviour of the animals, almost incontrovertibly adduced evidence for the operation of a neural circuitry in the genesis of emotion. Additionally, Papez circuit may also be concerned with memory and damage to its various components in Parkinson's disease, Alzheimer's disease, Korsakoff's syndrome, semantic dementia, and global amnesia, where cognitive disturbance is almost universal, lends credence to its putative role.
Morgan, James J.; Newman, Dianne K.
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.
Full Text Available Two chapters, "Scylla and Charybdis" and "Penelope," in James Joyce's Ulysses are crucial to an understanding of the novel as a whole. "Scylla and Charybdis" stands midway in the novel, the ninth of eighteen chapters, and is designed to serve as a kind of exegesis of the writer's methods and intentions. An analysis of that chapter helps to explain the meaning of the controversial final chapter, "Penelope," and to clarify its thematic and stylistic relation to the text as a whole. Ulysses is the story of a quest, actually of many quests that all coalesce into a single goal: the search for value in a modern world that is somehow diminished and constructed in comparison with the Homeric world where mortals strode the universe in company with gods and goddesses. How, in this dwarfed setting, can men and women redefine heroism in secular humanistic terms relevant to twentieth-century life? Almost by definition a quest narrative culminates in the attainment of the goal or in the potential for its attainment; Joyce's Ulysses affirms this possibility in "Penelope."
Schneider, Kirk J; Greening, Tom
James F. T. Bugental died peacefully at age 92 at his Petaluma, California, home on September 18, 2008. Jim was a leading psychotherapist and a founding father, with Abraham Maslow and others, of humanistic psychology, or the "third force" (in contrast to psychoanalysis and behaviorism). Jim was also the creator, along with Rollo May, of existential-humanistic psychotherapy. Jim was born in Fort Wayne, Indiana, on Christmas Day in 1915. Jim earned his doctorate in 1948 from Ohio State University, where he was influenced by Victor Raimy and George Kelly. After a brief time on the University of California, Los Angeles (UCLA) faculty in psychology, Jim resigned in 1953 to found the first group practice of psychotherapy, Psychological Service Associates, with Alvin Lasko. With Abraham Maslow and others, Jim was a cofounder of the Journal of Humanistic Psychology (JHP) and the Association for Humanistic Psychology in 1961. Jim also wrote many books on the topic of psychotherapy during his lifetime. Jim was a great and bold spirit--his many writings and teachings are cherished today widely, and the field of psychology is much richer for his efforts. 2009 APA, all rights reserved
Feibel, Robert M
James Moores Ball (1862-1929) was an ophthalmologist in St. Louis, Missouri, who excelled as a medical historian and collector of rare and historic books about the history of anatomy. During his lifetime, he was best known as the author of a comprehensive, authoritative, and popular textbook titled Modern Ophthalmology First published in 1904, there were five further editions. Ball was very interested in the history of anatomy and wrote two books on this subject, the first being a biography of Andreas Vesalius, one of the earliest in English, and the second a history of the resurrection men or grave robbers who sold corpses to professors of anatomy and surgery for teaching purposes. His legacy today is the 470 volumes of his personal library, which are now in the Archives and Rare Books department of the Becker Medical Library of the Washington University School of Medicine. These texts are one of their major collections, concentrating on the history of anatomy, beginning with a first edition of Vesalius's De Humani Corporis Fabrica and holding many important and beautiful landmark volumes of anatomical atlases. © The Author(s) 2016.
The James Webb Space Telescope (JWST) is a large aperture, cryogenic, infrared-optimized space observatory under development by NASA for launch in 2014. The European and Canadian Space Agencies are mission partners. JWST will find and study the first galaxies that formed in the early universe, peer through dusty clouds to see AGN environments and stars forming planetary systems at high spatial resolution. The breakthrough capabilities of JWST will enable new studies of star formation and evolution in the Milky Way, including the Galactic Center, nearby galaxies, and the early universe. JWST's instruments are designed to work primarily in the infrared range of 1 - 28 microns, with some capability in the visible. JWST will have a segmented primary mirror, approximately 6.5 meters in diameter, and will be diffraction-limited at wavelength of 2 microns (0.1 arcsec resolution). The JWST observatory will be placed in a L2 orbit by an Ariane 5 launch vehicle provided by ESA. The observatory is designed for a 5-year prime science mission, with propellant for 10 years of science operations. The instruments will provide broad- and narrow-band imaging, coronography, and multi-object and integral-field spectroscopy (spectral resolution of 100 to 3,000) across the 1 - 28 micron wavelength range. Science and mission operations will be conducted from the Space Telescope Science Institute in Baltimore, Maryland.
Foss, Donald J; Overmier, J Bruce
Presents an obituary for James J. Jenkins. Jim Jenkins, fondly known as "J-cubed," was born on July 29, 1923, in St. Louis, Missouri. He attended William Jewell College but enlisted in the Army in 1942. He received a bachelor's degree in physics from the University of Chicago in 1944 as part of his training as a meteorologist. After serving in the South Pacific, he returned to William Jewell College, obtaining a bachelor's degree in psychology in 1947. Jenkins received a master's degree (1948) and a doctorate (1950) from the University of Minnesota under a giant in industrial psychology, Donald G. Paterson. He joined the Minnesota Psychology Department faculty upon graduation (turning down an offer from General Motors at triple the salary). Jenkins helped lead psychology's "cognitive revolution" from the second half of the 20th century into the present one. His work advanced multiple research areas: learning and memory, sentence processing, aphasia, speech perception, and perceptual organization. His remarkable combination of abilities led to nearly 200 scholarly publications and 500 conference and meeting presentations; multiple leadership positions, teaching awards, and professional accolades; and intense devotion from generations of students.
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.
Uma Kaimal Saikia
Full Text Available Background: Turner syndrome (TS is a chromosomal disorder associated with dysmorphic features and comorbidities, with recent trends focusing on early diagnosis for adequate management. Aim: The aim is to study the age and mode of presentation of TS, associated comorbidities and look for any correlation with the genotype. Material and Methods: This was a retrospective analysis of girls with TS attending the endocrinology clinic of a tertiary care center. Their age, mode of presentation, and clinical features were noted. All participants underwent ear examination, echocardiography, and ultrasonography of the abdomen. Laboratory investigations included serum T4, thyroid-stimulating hormone, thyroid peroxidase antibodies, follicle-stimulating hormone, fasting, and 2-h plasma glucose after 75 g glucose load and a karyotype. Simple descriptive statistical methods were used. Results: Seventeen cases of TS were seen with a median age of presentation of 18 years (range 14–42 years. Primary amenorrhea was the most common reason for seeking medical attention (76.4% followed by short stature and diabetes mellitus (11.8% each. The mean height at presentation was 137.5 ± 5.4 cm. Monosomy of X chromosome (45,X was the most common karyotype obtained in 58.8% of the patients, followed by 45,X/46, XX in 17.6%, 45,X/46X,i(X(q10 in 11.8%, and 45,X/47,XXX and 46X,delXp11.2 in 5.9% patients each. Bicuspid aortic valve was seen in two patients having a 45,X/46,XX karyotype. Conclusion: Primary amenorrhea is the most common presenting feature in girls with TS leading to a delayed age of presentation. Short stature and dysmorphic features are often overlooked in infancy and childhood due to socioeconomic factors. This late age of presentation is a cause of concern as early detection and management is important for height outcomes, bone health, and psychosocial support. Assessment of comorbidities becomes important in this setting.
Gardner, Jonathan P.
Astronomy is going through a scientific revolution, responding to a flood of data from the Hubble Space Telescope, other space missions, and large telescopes on the ground. In this talk, I will discuss some of the important discoveries of the last decade, from dwarf planets in the outer Solar System to the mysterious dark energy that overcomes gravity to accelerate the expansion of the Universe. The next decade will be equally bright with the newly refurbished Hubble and the promise of its successor, the James Webb Space Telescope. An infrared-optimized 6.5m space telescope, Webb is designed to find the first galaxies that formed in the early universe and to peer into the dusty gas clouds where stars and planets are born. With MEMS technology, a deployed primary mirror and a tennis-court sized sunshield, the mission presents many technical challenges. I will describe Webb's scientific goals, its design and recent progress in constructing the observatory. Webb is scheduled for launch in 2014.
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).
Stavridis, James, 1955-
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
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...
Corbitt, Holly; Maslen, Cheryl; Prakash, Siddharth; Morris, Shaine A; Silberbach, Michael
In Turner syndrome, the potential to form thoracic aortic aneurysms requires routine patient monitoring. However, the short stature that typically occurs complicates the assessment of severity and risk because the relationship of body size to aortic dimensions is different in Turner syndrome compared to the general population. Three allometric formula have been proposed to adjust aortic dimensions, all employing body surface area: aortic size index, Turner syndrome-specific Z-scores, and Z-scores based on a general pediatric and young adult population. In order to understand the differences between these formula we evaluated the relationship between age and aortic size index and compared Turner syndrome-specific Z-scores and pediatric/young adult based Z-scores in a group of girls and women with Turner syndrome. Our results suggest that the aortic size index is highly age-dependent for those under 15 years; and that Turner-specific Z-scores are significantly lower than Z-scores referenced to the general population. Higher Z-scores derived from the general reference population could result in stigmatization, inappropriate restriction from sports, and increasing the risk of unneeded medical or operative treatments. We propose that when estimating aortic dissection risk clinicians use Turner syndrome-specific Z-score for those under fifteen years of age. © 2017 Wiley Periodicals, Inc.
Hartling, Ulla B; Hansen, Birgit Fischer; Keeling, Jean W
The purpose of the present study is to evaluate the bi-iliac distance and the caudo-cranial position of the iliac bones in Ullrich-Turner syndrome (UTS) fetuses compared to recently published standards for normal fetuses. Whole-body radiographs in antero-posterior projections of 24 UTS fetuses (c...
Ryan, M.; Twair, A.; Nelson, E.; Brennan, D.; Eustace, S.
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
"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).
I.M. van Hagen (Iris); A.L. Duijnhouwer (Anthonie L.); M.J. ten Kate-Booij (Marianne); R.H.M. Dykgraaf (Ramon); J.J. Duvekot (Hans); E.M.W.J. Utens (Elisabeth); J.W. Roos-Hesselink (Jolien)
textabstractIntroduction: Turner syndrome (TS) is associated with subfertility and infertility. Nevertheless, an increasing number of women become pregnant through oocyte donation. The wish to conceive may be negatively influenced by the fear of cardiovascular complications. The aim was to
Cools, Martine; Rooman, Raoul P A; Wauters, Jan; Jacqemyn, Yves; Du Caju, Marc V L
To describe a woman with a nonmosaic (45,X) form of Turner's syndrome who gave birth to a girl with 45,X Turner syndrome. Patient report. Outpatient clinic of a university hospital. A woman with typical phenotypic features of Turner syndrome and a 45,X karyotype and her daughter with the same karyotype. None. Routine karyotype analysis on 200 white blood cells on two different occasions, on skin fibroblasts (1,000 mitoses) and on ovarian fibroblasts. Translocation of X-chromosome material was investigated by a complete X paint and fluorescent in situ hybridization analysis. The patient had a spontaneous puberty and became pregnant on three occasions. Her first daughter has a normal karyotype, the second pregnancy ended in spontaneous abortion, and after the third pregnancy, a girl was born with a 45,X karyotype. Karyotype analysis of a large number of mitoses in three different cell types failed to demonstrate any mosaicism. Translocation of X-chromosome material was ruled out by fluorescent in situ hybridization analysis with an X paint. This is a rare case of pregnancy in a nonmosaic Turner syndrome patient and, to our knowledge, is the only one that resulted in a live-born baby with the same karyotype. Cryptic mosaicism could not be found despite thorough investigations. Some hypotheses are presented that may explain this unique event.
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…
Nijhuis-Van der Sanden, M.W.G.; Asseldonk, E.H.F. van; Eling, P.A.T.M.; Galen, G.P. van
This study examined the relationship between decreased speed-accuracy trade-off and increased neuromotor noise in girls with Turner Syndrome (TS). #$$# Fifteen TS girls and 15 age-matched controls performed isometric force contractions with both index fingers separately at five force levels based on
Lee, Peter A; Ross, Judith L; Pedersen, Birgitte Tønnes
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...
Reicher, Stephen D.; Haslam, S. Alexander; Spears, Russell; Reynolds, Katherine J.
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
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
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
Full Text Available The purpose of this study is to examine whether water and air pollutants have a relationship with an increase in the genetic disorders Turner syndrome and Down syndrome, which are caused by congenital chromosomal abnormalities, and to generate a hypothesis about the genetic health effects of environmental pollutants. A panel regression based on random effect was conducted on Korea’s metropolitan councils from 2012 to 2014. The dependent variable was the number of Turner syndrome and Down syndrome cases, and the main independent variables were those regarding the water and air pollution. Air pollutants did not have a significant impact on the number of Turner syndrome and Down syndrome cases; however, the increase in number of wastewater discharge companies did have a significant relationship with the number of cases. The more the number of wastewater discharge companies, the more the number Turner syndrome and Down syndrome cases were observed. Therefore, scientific investigation on water and air pollutants in relation with genetic health effects needs to be performed.
Cleemann, Line Hartvig; Holm, Kirsten Bagge; Kobbernagel, Hanne
Aims: To evaluate area bone mineral density (aBMD) and volumetric BMD (vBMD) by dual-energy X-ray absorptiometry, and relations to bone markers and hormones in adolescent women with Turner syndrome (TS). Methods: Cross-sectional study in TS patients (n = 37, 16.7 ± 3.4 years) and control group (n...
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...
Cleemann, Line; Holm, Kirsten; Kobbernagel, Hanne
Aims: To evaluate area bone mineral density (aBMD) and volumetric BMD (vBMD) by dual-energy X-ray absorptiometry, and relations to bone markers and hormones in adolescent women with Turner syndrome (TS). Methods: Cross-sectional study in TS patients (n = 37, 16.7 ± 3.4 years) and control group (n...
Nissen, Nis; Gravholt, Claus H; Abrahamsen, Bo
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...
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...
Hong Kyu Park
Full Text Available PurposeShort stature is the most common finding in patients with Turner syndrome. Improving the final adult height in these patients is a challenge both for the patients and physicians. We investigated the clinical response of patients to growth hormone treatment for height improvement over the period of three years.MethodsReview of medical records from 27 patients with Turner syndrome treated with recombinant human growth hormone for more than 3 years was done. Differences in the changes of height standard deviation scores according to karyotype were measured and factors influencing the height changes were analyzed.ResultsThe response to recombinant human growth hormone was an increase in the height of the subjects to a mean value of 1.1 standard deviation for subjects with Turner syndrome at the end of the 3-year treatment. The height increment in the first year was highest. The height standard deviation score in the third year was negatively correlated with the age at the beginning of the recombinant human growth hormone treatment. Different karyotypes in subjects did not seem to affect the height changes.ConclusionEarly growth hormone administration in subjects with Turner syndrome is helpful to improve height response to the treatment.
Ohta, Ryuichi; Shimabukuro, Akira
Objective: Parsonage-Turner syndrome is a peripheral neuropathy characterized by acute onset shoulder pain, myalgia, and sensory disturbances. The present report discusses a rare case of Parsonage-Turner syndrome and highlights the importance of accurate history recording and thorough physical examination for the diagnosis of the disease in rural areas. Patient: A 28-year-old woman presented to our clinic with acute bilateral shoulder pain and difficulty moving her right arm. A diagnosis of Parsonage-Turner syndrome was suspected based on the progression of symptoms, severity of pain, and lack of musculoskeletal inflammation. The diagnosis was confirmed by neurological specialists, and the patient was treated with methylprednisolone, after which her symptoms gradually improved. Discussion: The differential diagnosis of shoulder pain is complicated due to the wide variety of conditions sharing similar symptoms. Accurate history recording and thorough physical examination are required to differentiate among conditions involving the central nerves, peripheral nerves, and nerve plexuses. Conclusion: Although the symptoms of Parsonage-Turner syndrome vary based on disease progression and the location of impairment, proper diagnosis of acute shoulder pain without central neurological symptoms can be achieved in rural areas via thorough examination.
Lasker, Adrian G.; Mazzocco, Michele M. M.; Zee, David S.
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…
Murphy, Melissa M.; Mazzocco, Michele M. M.; Gerner, Gwendolyn; Henry, Anne E.
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,…
Mazzocco, Michele M. M.; Baumgardner, Thomas; Freund, Lisa S.; Reiss, Allan L.
Social behaviors among girls (ages 6-16) with fragile X (n=8) or Turner syndrome (n=9) were examined to address the role of family environment versus biological determinants of social dysfunction. Compared to their sisters, subjects had lower IQS and higher rating of social and attention problems. (Author/CR)
SLIJPER, FME; SINNEMA, G; AKKERHUIS, GW; BRUGMANBOEZEMAN, A; FEENSTRA, J; DENHARTOG, L; HEUVEL, F
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
Arnold, Raoul; Neu, Marie; Hirtler, Daniel; Gimpel, Charlotte; Markl, Michael; Geiger, Julia
Cardiovascular surveillance is important in Turner syndrome because of the increased risk of aortic dilation and dissection with consecutively increased mortality. To compare 4-D flow MRI for the characterization of aortic 3-D flow patterns, dimensions and vessel wall parameters in pediatric patients with Turner syndrome and age-matched controls. We performed 4-D flow MRI measuring in vivo 3-D blood flow with coverage of the thoracic aorta in 25 patients with Turner syndrome and in 16 female healthy controls (age mean ± standard deviation were 16 ± 5 years and 17 ± 4 years, respectively). Blood flow was visualized by time-resolved 3-D path lines. Visual grading of aortic flow in terms of helices and vortices was performed by two independent observers. Quantitative analysis included measurement of aortic diameters, quantification of peak systolic wall shear stress, pulsatility index and oscillatory shear index at eight defined sites. Patients with Turner syndrome had significantly larger aortic diameters normalized to BSA, increased vortices in the ascending aorta and elevated helix flow in the ascending and descending aorta compared to controls (all PTurner patients compared to controls (p=0.02, p=0.002 and p=0.01 respectively). Four-dimensional flow MRI provides new insights into the altered aortic hemodynamics and wall shear stress that could have an impact on the development of aortic dissections.
de Marqui, Alessandra Bernadete Trovó; da Silva-Grecco, Roseane Lopes; Balarin, Marly Aparecida Spadotto
To assess the prevalence of Y-chromosome sequences and gonadoblastoma in patients with Turner syndrome using molecular techniques. A literature search was performed in Pubmed, limiting the period of time to the years 2005 to 2014 and using the descriptors: Turner syndrome and Y sequences (n=26), and Turner syndrome and Y-chromosome material (n=27). The inclusion criteria were: articles directly related to the subject and published in English or Portuguese. Articles which did not meet these criteria and review articles were excluded. After applying these criteria, 14 papers were left. the main results regarding the prevalence of Y-chromosome sequences in Turner syndrome were: 1-about 60% of the studies were conducted by Brazilian researchers; 2-the prevalence varied from 4.6 to 60%; 3-the most frequently investigated genes were SRY, DYZ3 and TSPY; 4-seven studies used only PCR, while in the remaining seven it was associated with FISH. Nine of the 14 studies reported gonadectomy and gonadoblastoma. The highest prevalence of gonadoblastoma (33%) was found in two studies. In five out of the nine papers evaluated the prevalence of gonadoblastoma was 10 to 25%; in two of them it was zero. according to these data, molecular analysis to detect Y-chromosome sequences in TS patients is indicated, regardless of their karyotype. In patients who test positive for these sequences, gonadoblastoma needs to be investigated. Copyright © 2015 Sociedade de Pediatria de São Paulo. Publicado por Elsevier Editora Ltda. All rights reserved.
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.
Murphy, Melissa M.; Mazzocco, Michele M. M.
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…
Manjila, Sunil; Miller, Benjamin R; Rao-Frisch, Anitha; Otvos, Balint; Mitchell, Anna; Bambakidis, Nicholas C; De Georgia, Michael A
Moyamoya disease is a rare cerebrovascular anomaly involving the intracranial carotid arteries that can present clinically with either ischemic or hemorrhagic disease. Moyamoya syndrome, indistinguishable from moyamoya disease at presentation, is associated with multiple clinical conditions including neurofibromatosis type 1, autoimmune disease, prior radiation therapy, Down syndrome, and Turner syndrome. We present the first reported case of an adult patient with previously unrecognized mosaic Turner syndrome with acute subarachnoid and intracerebral hemorrhage as the initial manifestation of moyamoya syndrome. A 52-year-old woman was admitted with a subarachnoid hemorrhage with associated flame-shaped intracerebral hemorrhage in the left frontal lobe. Physical examination revealed short stature, pectus excavatum, small fingers, micrognathia, and mild facial dysmorphism. Cerebral angiography showed features consistent with bilateral moyamoya disease, aberrant intrathoracic vessels, and an unruptured 4-mm right superior hypophyseal aneurysm. Genetic analysis confirmed a diagnosis of mosaic Turner syndrome. Our case report is the first documented presentation of adult moyamoya syndrome with subarachnoid and intracerebral hemorrhage as the initial presentation of mosaic Turner syndrome. It illustrates the utility of genetic evaluation in patients with cerebrovascular disease and dysmorphism. Copyright © 2014 National Stroke Association. Published by Elsevier Inc. All rights reserved.
Lesniak-Karpiak, Katarzyna; Mazzocco, Michele M. M.; Ross, Judith L.
This study compared 29 females with Turner syndrome and 21 females with fragile X syndrome (ages 6-22) on a videotaped role-play interaction with 34 females in a comparison group. Three of eight behavioral measures of social skills differentiated the participant groups. Fragile-X subjects required more time to initiate interactions and Turner…
Williams, Janet K.; And Others
Thirteen females with Turner syndrome, 13 females with nonverbal learning disabilities, and 14 males with nonverbal learning disabilities, ages 7-14, were taught via a cognitive behavioral modification approach to verbally mediate a spatial matching task. All three groups showed significant task improvement after the training, with no significant…
Roberto L. P. Mazzaschi
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.
GERVER, WJM; DRAYER, NM; VANES, A
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
The Hebrew word "dabar" is translated in the King James Bible by no fewer than 82 different English words. This article explores how and why it is translated like this, considering some of the issues at stake in Bible translation more generally, and with the King James Bible, in particular. It examines more closely six ways in which translation decisions either affect interpretation or reveal the translation process. It draws out implications for translators, readers, and for evaluating th...
Pady, D S
King James I of England (1566-1625) had unusually wide interests in new concepts about mental and physical diseases during the early seventeenth-century. He issued medical opinions about magic, witchcraft, the bubonic plague, hysteria, unconscious fits, sleepwalking, smoking, the "King's Evil", and many other medico-psychological symptoms and treatments which caught his imagination. In his didactic way, James's continuing studies of medical abnormalities of the body and mind revealed his great concern about the health of his people.
Since the founding of the School Development Program (SDP) by Dr. James Comer in 1968, the manner in which child development is addressed in many schools has changed drastically. By working together using the SDP model, schools, parents, and child development experts are able to foster healthy social, emotional, and academic development in children, resulting in improvement in all areas. This review briefly describes the creation and implementation of the SDP model by Dr. James Comer.
Devos, Daniel G H; De Groote, Katya; Babin, Danilo; Demulier, Laurent; Taeymans, Yves; Westenberg, Jos J; Van Bortel, Luc; Segers, Patrick; Achten, Eric; De Schepper, Jean; Rietzschel, Ernst
To study segmental structural and functional aortic properties in Turner syndrome (TS) patients. Aortic abnormalities contribute to increased morbidity and mortality of women with Turner syndrome. Cardiovascular magnetic resonance (CMR) allows segmental study of aortic elastic properties. We performed Pulse Wave Velocity (PWV) and distensibility measurements using CMR of the thoracic and abdominal aorta in 55 TS-patients, aged 13-59y, and in a control population (n = 38;12-58y). We investigated the contribution of TS on aortic stiffness in our entire cohort, in bicuspid (BAV) versus tricuspid (TAV) aortic valve-morphology subgroups, and in the younger and older subgroups. Differences in aortic properties were only seen at the most proximal aortic level. BAV Turner patients had significantly higher PWV, compared to TAV Turner (p = 0.014), who in turn had significantly higher PWV compared to controls (p = 0.010). BAV Turner patients had significantly larger ascending aortic (AA) luminal area and lower AA distensibility compared to both controls (all p Turner patients. TAV Turner had similar AA luminal areas and AA distensibility compared to Controls. Functional changes are present in younger and older Turner subjects, whereas ascending aortic dilation is prominent in older Turner patients. Clinically relevant dilatation (TAV and BAV) was associated with reduced distensibility. Aortic stiffening and dilation in TS affects the proximal aorta, and is more pronounced, although not exclusively, in BAV TS patients. Functional abnormalities are present at an early age, suggesting an aortic wall disease inherent to the TS. Whether this increased stiffness at young age can predict later dilatation needs to be studied longitudinally.
Sheanon, Nicole M; Backeljauw, Philippe F
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.
Candra Catur Nugroho
Full Text Available ABSTRACTThe continuous supply of true-to-type seedling through in vitro technique is very important for cassava (Manihot esculenta Crantz. as the demand for seedlings is increasing. The research consisted of two experiments and they were conducted from February 2013 to February 2014. The first experiment was in vitro shoot multiplication to evaluate the effect of culture medium and single node position on growth and shoot multiplication of cassava Jame-jame genotype. This experiment was arranged in a randomized complete block design with two factors and four replications. The first factor was culture medium (MS0 and MSB3 and the second factor was single node positions used as explant (basal, middle, and top section of the stem. The result showed that middle section of the stem cultured on MS0 medium had the highest shoot height, number of leaves, and number of nodes. The second experiment was the acclimatization to evaluate the effect of culture period on the success of the acclimatization. This experiment was arranged in a completely randomized design with culture period prior to acclimatization as treatment. The results showed that seedlings from period of 12 and 24 weeks after culture showed higher survival rates (80% than seedling from period of 36 and 48 weeks after culture (50 and 40%. Culture period prior to acclimatization had no significant effect on plant height and number of leaves.Keywords: BAP, culture period, single node position, shoot multiplication
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)
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.)
Pereira, Alfredo Manuel Franco; Alves, Alexandre; Infante, Paulo; Titto, Evaldo A. L.; Baccari, Flávio; Almeida, J. A. Afonso
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.
Zheng, Jiemei; Liu, Zhiying; Xia, Pei; Lai, Yi; Wei, Yangjun; Liu, Yanyan; Chen, Jiurong; Qin, Li; Xie, Liangyu; Wang, He
To explore the correlation between cytogenetic findings and clinical manifestations of Turner syndrome. 607 cases of cytogenetically diagnosed Turner syndrome, including those with a major manifestation of Turner syndrome, were analyzed with conventional G-banding. Correlation between the karyotypes and clinical features were analyzed. Among the 607 cases, there were 154 cases with monosomy X (25.37%). Mosaicism monosomy X was found in 240 patients (39.54%), which included 194 (80.83%) with a low proportion of 45,X (3 ≤ the number of 45, X ≤5, while the normal cells ≥ 30). Structural X chromosome abnormalities were found in 173 patients (28.50%). A supernumerary marker chromosome was found in 40 cases (6.59%). Most patients with typical manifestations of Turner syndrome were under 11 years of age and whose karyotypes were mainly 45,X. The karyotype of patients between 11 and 18 years old was mainly 45,X, 46,X,i(X)(q10) and mos45,X/46,X,i(X)(q10), which all had primary amenorrhea in addition to the typical clinical manifestations. The karyotype of patients over 18 years of age were mainly mosaicism with a low proportion of 45,X, whom all had primary infertility. 53 patients had a history of pregnancy, which included 48 with non-structural abnormalities of X chromosome and 5 with abnormal structure of X chromosome. Generally, the higher proportion of cells with an abnormal karyotype, the more severe were the clinical symptoms and the earlier clinical recognition. Karyotyping analysis can provide guidance for the early diagnosis of Turner syndrome, especially those with a low proportion of 45,X.
Sarkar, R; Marimuthu, K M
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.
The name of Parkinson is universally famous because of the eponymous disease. But as a man, James Parkinson (1755-1824), is poorly known. He was born, married and passed away in his St-Leonard parish in Shoreditch (London). After having studied Latin, Greek, natural philosophy, and stenography (shorthand), which he considered as the basic tools of any doctor, he studied for six months at the London Hospital Medical College, and served his apprenticeship as an apothecary-surgeon with his father for six years. Then he was qualified as a surgeon in 1784 at the age of 29 years. His activity has been deployed in three areas: 1) medicine, 2) political activism and social reformism, 3) paleontology and oryctology. As a physician, Parkinson has published several books, the most important concerned paralysis agitans (future Parkinson's disease), gout, complications of lightning (future Lichtenberg figures and keraunoparalysis), acute appendicitis (with his son John Parkinson) and hernias (diagnosis, development, dangers of hernia ruptures, and design of a simple truss). Its ideological and political commitment was manifested by joining two secret societies and publishing numerous pamphlets, many of which are signed by the pseudonym Old Hubert; he campaigned for a better representation of the people in Parliament, for greater social justice, for the defense and recognition of the rights of the poor, the insane, the children, and against children abuse. He published a small compendium of chemistry, he was one of the thirteen members who create the British Geological Society and is recognized as one of the founders of paleontology; as was Georges Cuvier (1769-1832), he remained a strong supporter of creationism and catastrophism. Distinguished oryctologist, he gave his name to several fossils, mainly molluscs.
Lebofsky, Larry A.; McCarthy, D. W.; Higgins, M. L.; Lebofsky, N. R.
The Astronomy Camp for Girl Scout Leaders is a science education program sponsored by NASA's next large space telescope: The James Webb Space Telescope (JWST). The E/PO team for JWST's Near Infrared Camera (NIRCam), in collaboration with the Sahuaro Girl Scout Council, has developed a long-term relationship with adult leaders from all GSUSA Councils that directly benefits troops of all ages, not only in general science education but also specifically in the astronomical and technology concepts relating to JWST. We have been training and equipping these leaders so they can in turn teach young women essential concepts in astronomy, i.e., the night sky environment. We model what astronomers do by engaging trainers in the process of scientific inquiry, and we equip them to host troop-level astronomy-related activities. It is GSUSA's goal to foster girls’ interest and creativity in Science, Technology, Engineering, and Math, creating an environment that encourages their interests early in their lives while creating a safe place for girls to try and fail, and then try again and succeed. To date, we have trained over 158 leaders in 13 camps. These leaders have come from 24 states, DC, Guam, and Japan. While many of the camp activities are related to the "First Light” theme, many of the background activities relate to two of the other JWST and NIRCam themes: "Birth of Stars and Protoplanetary Systems” and "Planetary Systems and the Origin of Life.” The latter includes our own Solar System. Our poster will highlight the Planetary Systems theme: 1. Earth and Moon: Day and Night; Rotation and Revolution. 2. Earth/Moon Comparisons. 3. Size Model: The Diameters of the Planets. 4. Macramé Planetary (Solar) Distance Model. 5.What is a Planet? 6. Planet Sorting Cards. 7. Human Orrery 8. Lookback Time in Our Daily Lives NIRCam E/PO website: http://zeus.as.arizona.edu/ dmccarthy/GSUSA
Puxley, Philip John; Grashuis, Randon M.
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
Suwa, Seizo; And Others
Effects of luteinizing hormone-releasing hormone (LH-RH) on LH and follicle-stimulating hormone (FSH) release were studied in 26 normal children and six patients (from 1-to 14-years-old) with Turner's syndrome. (Author)
An overview is presented of projects planned for the James Bay/Hudson Bay region, and the expected environmental impacts of these projects. The watershed of James Bay and Hudson Bay covers well over one third of Canada, from southern Alberta to central Ontario to Baffin Island, as well as parts of north Dakota and Minnesota in the U.S.A. Hydroelectric power developments that change the timing and rate of flow of fresh water may cause changes in the nature and duration of ice cover, habitats of marine mammals, fish and migratory birds, currents into and out of Hudson Bay/James Bay, seasonal and annual loads of sediments and nutrients to marine ecosystems, and anadromous fish populations. Hydroelectric projects are proposed for the region by Quebec, Ontario and Manitoba. In January 1992, the Canadian Arctic Resources Committee (CARC), the Environmental Committee of Sanikuluaq, and the Rawson Academy of Arctic Science will launch the Hudson Bay/James Bay Bioregion Program, an independent initiative to apply an ecosystem approach to the region. Two main objectives are to provide a comprehensive assessment of the cumulative impacts of human activities on the marine and freshwater ecosystems of the Hudson Bay/James Bay bioregion, and to foster sustainable development by examining and proposing cooperative processes for decision making among governments, developers, aboriginal peoples and other stakeholders. 1 fig
Basiago, Andrew D.
Presents the arguments advanced by James E. Krier, a professor of environmental law, against the belief that technological advancements will mitigate the problem of population growth in the battle against pollution control. (MDH)
Baker, Neal Kenton
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
Clerk Maxwell, James; Niven, W. D.
homogeneous quadratic functions; 57. On the focal lines of a refracted pencil; 58. An Essay on the mathematical principles of physics. By Rev. James Challis. (Review); 59. On Loschmidt's experiments on diffusion in relation to the kinetic theory of gases; 60. On the final state of a system of molecules in motion subject to forces of any kind; 61. Faraday; 62. Molecules (a lecture); 63. On double refraction in a viscous fluid in motion; 64. On Hamilton's characteristic function for a narrow beam of light; 65. On the relation of geometrical optics to other parts of mathematics and physics; 66. Plateau on soap-bubbles (Review); 67. Grove's Correlation of physical forces (Review); 68. On the application of Kirchhoff's rules for electric circuits to the solution of a geometric problem; 69. Van der Waals on the continuity of the gaseous and liquid states; 70. On the centre of motion of the eye; 71. On the dynamical evidence of the molecular constitution of bodies (a lecture); 72. On the application of Hamilton's characteristic function to the theory of an optical instrument symmetrical about its axis; 73. Atom; 74. Attraction; 75. On Bow's method of drawing diagrams in graphical statics with illustrations from Peaucellier's Linkage; 76. On the equilibrium of heterogeneous substances; 77. Diffusion of gases through absorbing substances; 78. General considerations concerning scientific apparatus; 79. Instruments connected with fluids; 80. Whewell's Writing and correspondence (Review); 81. On Ohm's Law; 82. On the protection of buildings from lightning; 83. Capillary action; 84. Hermann Ludwig Ferdinand Helmholtz; 85. On a paradox in the theory of attraction; 86. On approximate multiple integration between limits by summation; 87. On the unpublished electrical papers of the Hon. Henry Cavendish; 88. Constitution of bodies; 89. Diffusion; 90. Diagrams; 91. Tait's Thermo
Robert Bourassa's contributions to the hydroelectric development at James Bay were acknowledged with the inauguration of a park in the ex-prime minister's name. Phase 1 of the James Bay hydroelectric project constituted the world's biggest construction site, employing more than 180,000 people from beginning to project completion. The James Bay project allowed Hydro-Quebec to gain one of the world's largest electric power utilities and to gain significant competitive edge over its competitors. The Robert Bourassa Park contains a picnic area and a visitor interpretation centre which describes the history of the project. A sequence of 5 signposts summarize the contributions that Robert Bourassa made to the megaproject which cost over $20.6 billion. The complex consists of 65 turbines which produce 15,235 megawatts of electricity. 1 fig
Danielson, G. Edward
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
Yamazaki, Masanori; Sato, Ai; Nishio, Shin-ichi; Takeda, Teiji; Miyamoto, Takahide; Katai, Miyuki; Hashizume, Kiyoshi
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.
Sze, Jyh-Rou; Wei, An-Chi
This study reports a crossed Czerny-Turner spectrometer with multiple mirrors to extend the inspected spectrum. A design example with two movable mirrors and a stationary planar mirror is experimentally demonstrated to offer two additional spectral bands, thereby leading to thrice the spectral range of the original Czerny-Turner spectrometer. The results indicate that the configurations to measure the three bands have almost identical parameters. The moving direction of the planar mirror and the plane of incidence are orthogonal; thus, the influence of mirror movement on the repeatability of the spectrum is minimized. In addition to the merits of cost-effectiveness and rapid inspection, the reported mechanism of mirror movement is applied to general spectrometers to extend the spectral coverage without sacrificing the resolution.
Trolle, Christian; Mortensen, Kristian Havmand; Andersen, Niels Holmark
Objective: The risk of aortic dissection is 100 fold increased in Turner syndrome (TS). Increased blood pressure (BP) and heart rate is present as well as an increased risk of ischemic heart disease and diabetes. This study aimed to prospectively assess heart rate variability (HRV) in TS and its...... relation to aortic dimensions. Methods: Adults with TS (n=91, aged 37.4±10.4 years) recruited through the Danish National Society of Turner Syndrome Contact Group and an endocrine outpatient clinic were examined thrice (mean follow-up of 4.7±0.5 years). Healthy controls (n=64, aged 39.4±12.1 years) were...
Gawlik, Aneta; Hankus, Magdalena; Such, Kamila; Drosdzol-Cop, Agnieszka; Madej, Paweł; Borkowska, Marzena; Zachurzok, Agnieszka; Malecka-Tendera, Ewa
Turner syndrome is the most common example of hypergonadotropic hypogonadism resulting from gonadal dysgenesis. Most patients present delayed, or even absent, puberty. Premature ovarian failure can be expected even if spontaneous menarche occurs. Laboratory markers of gonadal dysgenesis are well known. The choice of optimal hormone replacement therapy in children and adolescents remains controversial, particularly regarding the age at which therapy should be initiated, and the dose and route of estrogen administration. On the basis of a review of the literature, we present the most acceptable schedule of sex steroid replacement therapy in younger patients with Turner syndrome. Copyright © 2016 North American Society for Pediatric and Adolescent Gynecology. Published by Elsevier Inc. All rights reserved.
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 . 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.
Stankov Kirill Nikolaevich
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.
Rosenfeld, R G; Hintz, R L; Johanson, A J; Brasel, J A; Burstein, S; Chernausek, S D; Clabots, T; Frane, J; Gotlin, R W; Kuntze, J
Seventy girls with Turner syndrome, 4 to 12 years of age, were randomly assigned to receive either no treatment (control) or methionyl human growth hormone (0.125 mg/kg three times per week), oxandrolone (0.125 mg/kg/day), or combination hGH plus oxandrolone therapy. Baseline growth rates averaged 4.3 cm/yr, and all were within 2 SD of mean growth velocity for age in girls with Turner syndrome. Sixty-seven girls remained in the study for a minimum of 1 year. Growth rates and growth velocity (in standard deviations for age in girls with Turner syndrome) were control 3.8 cm/yr (-0.1 SD), hGH 6.6 cm/yr (+2.3 SD), oxandrolone 7.9 cm/yr (+3.7 SD), and combination therapy 9.8 cm/yr (+5.4 SD). Mean bone ages advanced 1.0 years (hGH), 1.3 years (oxandrolone), and 1.6 years (combination). However, median increments in height age/bone age (delta HA/delta BA) ratios ranged from 1.0 to 1.1 for treatment groups, compared with 0.8 for the controls. Predicted adult height by the method of Bayley-Pinneau increased 2.5 cm for hGH or oxandrolone alone, and 3.2 cm for combination treatment. These data indicate that both hGH and oxandrolone can significantly stimulate short-term skeletal growth in patients with Turner syndrome, and potentially increase final adult height.
Nilsson, Dennis; Meng, Thomas
A simple technique is presented for achieving balanced occlusion when setting 30 degrees Pilkington-Turner teeth. This technique involves the rotation of the mandibular posterior teeth around three axes: the vertical axis, to align the grooves and embrasures with the lateral path of the movement of the cusps; the mesio-distal axis, to achieve the Curve of Wilson; and the bucco-lingual axis, resulting in the Curve of Spee.
Estela Morales Peralta
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.
Fan, Zhe; Zhang, Yingyi
Grey Turner's and Cullen's signs are rare clinical signs, which most appear in patients with severe acute pancreatitis. The present patient complained of abdominal pain after coughing. However, contrast-enhanced CT revealed a hemorrhage of the abdominal wall. Therefore, spontaneous hemorrhage of the abdominal wall was diagnosed. The patient recovered through immobilization and hemostasis therapy. This case report and literature review aims to remind clinicians of manifestations and treatment of spontaneous hemorrhage.
Hoxha, Petrit; Babameto-Laku, Anila; Vyshka, Gentian; Gjoka, Klodiana; Minxuri, Dorina; Myrtaj, Elira; Çakërri, Luljeta
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.
Ouarezki, Yasmine; Cizmecioglu, Filiz Mine; Mansour, Chourouk; Jones, Jeremy Huw; Gault, Emma Jane; Mason, Avril; Donaldson, Malcolm D C
Early diagnosis of Turner syndrome (TS) is necessary to facilitate appropriate management, including growth promotion. Not all girls with TS have overt short stature, and comparison with parental height (Ht) is needed for appropriate evaluation. We examined both the prevalence and diagnostic sensitivity of measured parental Ht in a dedicated TS clinic between 1989 and 2013. Lower end of parental target range (LTR) was calculated as mid-parental Ht (correction factor 12.5 cm minus 8.5 cm) and converted to standard deviation scores (SDS) using UK 1990 data, then compared with patient Ht SDS at first accurate measurement aged > 1 year. Information was available in 172 girls of whom 142 (82.6%) were short at first measurement. However, both parents had been measured in only 94 girls (54.6%). In 92 of these girls age at measurement was 6.93 ± 3.9 years, Ht SDS vs LTR SDS - 2.63 ± 0.94 vs - 1.77 ± 0.81 (p Turner syndrome are short in relation to parental heights, with untreated final height approximately 20 cm below female population mean. • Measured parental height is more accurate than reported height. What is New: • In a dedicated Turner clinic, there was 85% sensitivity when comparing patient height standard deviation score at first accurate measurement beyond 1 year of age with the lower end of the parental target range standard deviation. • However, measured height in both parents had been recorded in only 54.6% of the Turner girls attending the clinic. This indicates the need to improve the quality of growth assessment in tertiary care.
Hasegawa, Yukihiro; Ariyasu, Daisuke; Izawa, Masako; Igaki-Miyamoto, Junko; Fukuma, Mami; Hatano, Megumi; Yagi, Hiroko; Goto, Masahiro
Estrogen replacement therapy in Turner syndrome should theoretically mimic the physiology of healthy girls. The objective of this study was to describe final height and bone mineral density (BMD) in a group of 17 Turner syndrome patients (group E) who started their ethinyl estradiol therapy with an ultra-low dosage (1-5 ng/kg/day) from 9.8-13.7 years. The subjects in group E had been treated with GH 0.35 mg/kg/week since the average age of 7.4 years. The 30 subjects in group L, one of the historical groups, were given comparable doses of GH, and conjugated estrogen 0.3125 mg/week ∼0.3125 mg/day was initiated at 12.2-18.7 years. The subjects in group S, the other historical group, were 21 patients who experienced breast development and menarche spontaneously. Final height (height gain Turner syndrome. The final height in group L was 148.5 ± 3.0 cm with a SD of 1.30 ± 0.55, which was significantly different from the values for group E. The volumetric BMD of group S (0.290 ± 0.026 g/cm 3 ) was significantly different from that of group L or E (0.262 or 0.262 g/cm 3 as a mean, respectively). This is the first study of patients with Turner syndrome where estrogen was administered initially in an ultra-low dose and then increased gradually. Our estrogen therapy in group E produced good final height but not ideal BMD.
Bucerzan, Simona; Miclea, Diana; Popp, Radu; Alkhzouz, Camelia; Lazea, Cecilia; Pop, Ioan Victor; Grigorescu-Sido, Paula
Recent years have seen a shift in perspective on Turner syndrome, as it is no longer considered a significant disability due to therapeutic advances. The delay of diagnosis and the underdiagnosis are common in Turner syndrome, especially because of the great phenotypic variability and lack of firm diagnostic criteria. Our first aim was to assess the clinical and the cytogenetic characteristics and growth rate in growth hormone (GH)-treated patients as compared to those with spontaneous growth. The second aim was to analyze the Y chromosomal sequences. We analyzed 45 patients diagnosed with Turner syndrome in Genetic Pathology Centre of Cluj Emergency Children's Hospital. We carried out a study of the clinical features, the correlations between the karyotype and the phenotype, and we also made a research of Y chromosome sequences. The average age at diagnosis was 8.9±5.4 years. A significant association was observed between the number of external phenotypical abnormalities and internal malformations ( r =0.45), particularly the cardiovascular ones ( r =0.44). Patients treated with GH showed improvement in growth rate, with final stature significantly better than in untreated patients; benefits following treatment were greater if diagnosis was made before the age of 5 years. Thirteen percent of patients experienced spontaneous and complete puberty, whereas 30% experienced incomplete puberty. Patients with the 45,X genotype had a greater stature deficit and a higher incidence of cardiac malformations, compared with patients with 45,X/46,XX mosaic karyotype. Y chromosome sequences were found in only one patient, who subsequently underwent gonadectomy. The importance of this study resides, to the best of our knowledge, in the fact that the largest group of patients in Romania was analyzed and assessed. To draw firm conclusions on the most valuable clinical indicators for Turner syndrome diagnosis in clinical practice, studies on large groups of patients should be
Mazzocco, Michèle M M; Singh Bhatia, Neha; Lesniak-Karpiak, Katarzyna
The present study was designed to assess object identification ("what") and location ("where") skills among girls with fragile X or Turner syndrome and girls with neither disorder. Participants completed standardized subtests of visual perception and tasks of visuospatial "what" and "where" memory. Girls with fragile X had average performance on most object identification tasks, yet 53% failed to accurately recreate the gestalt of a design during the "where" memory task. Fewer than 7% of girls in the Turner or comparison group made this error. Girls with Turner syndrome had lower scores and longer response times on object perception tasks and had poorer recall of location for internal features of the design on the "where" memory task, relative to girls in the comparison or fragile X group. When limiting analyses to IQ-matched samples, correlations between math and visual perception tasks emerged, but only for girls with fragile X. These results reflect important differences between two cognitive phenotypes and have implications for the role of visuospatial processing in early math performance.
Full Text Available Background:Mosaic form of turner syndrome that represented by two or more cell lines in an affected individual, often has limitation for detection with classical cytogenetic methods. The present study was carried out to compare the efficiency of interphase Fluorescence In Situ Hybridisation (FISH and cytogenetic techniques in detection of mosaic form of turner syndrome. Methods: All candidate samples for turner syndrome were surveyed with both interphase FISH using DXZ1 as a chromosome X specific probe and the GTG- banding methods. The chi square test was used and a P-value of less than 0.05 was considered as being significant. Results: Asignificant difference was observed between results obtained from the application of the two methods under study (P<0.05, indicating that the interphase FISH is favourably compares to conventional cytogenetics in detection of mosaic form of X chromosome aneuploidy, as an extended number of cells can be scored in a limited time. Conclusion: The results indicate that using the two techniques in parallel allow accurate differentiation between mosaicism and homogenous aneuploidy of X chromosome, and thus both numerical and structural aberrations of the X will be analyzed.
Levitsky, Lynne L; Luria, Anne H O'Donnell; Hayes, Frances J; Lin, Angela E
We review recent understanding of the pathophysiology, molecular biology, and management of Turner syndrome. Sophisticated genetic techniques are able to detect mosaicism in one-third of individuals previously thought to have monosomy X. Prenatal detection using maternal blood should permit noninvasive detection of most fetuses with an X chromosome abnormality. Disproportionate growth with short limbs has been documented in this condition, and a target gene of short stature homeobox, connective tissue growth factor (Ctgf), has been described. Liver disease is more common in Turner syndrome than previously recognized. Most girls have gonadal failure. Spontaneous puberty and menarche is more commonly seen in girls with XX mosaicism. Low-dose estrogen replacement therapy may be given early to induce a more normal onset and tempo of puberty. Oocyte donation for assisted reproduction carries a substantial risk, particularly if the woman has known cardiac or aortic disease. Neurodevelopmental differences in Turner syndrome are beginning to be correlated with differences in brain anatomy. An increased understanding of the molecular basis for aspects of this disorder is now developing. In addition, a renewed focus on health maintenance through the life span should provide better general and targeted healthcare for these girls and women.
Kalkan, Rasime; Özdağ, Nermin; Bundak, Rüveyde; Çirakoğlu, Ayşe; Serakinci, Nedime
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.
Jeż, Wacław; Tobiasz-Adamczyk, Beata; Brzyski, Piotr; Majkowicz, Mikołaj; Pankiewicz, Piotr; Irzyniec, Tomasz J
Turner syndrome (TS) appears in women as a result of the lack of part or the whole of one of the X chromosomes. It is characterized by the occurrence of low height, hypogonadism, numerous developmental defects, and is often accompanied by psychological disturbances. Although the phenotype characteristics of women with TS are quite well documented, the knowledge of the impact of Turner syndrome on the satisfaction with life is still insufficient. The aim of our study was to assess the impact of TS on selected variables of quality of life, and hence also life satisfaction in women with this syndrome. The research was carried out in a group of 176 women with TS starting March 1995. The patients underwent anthropological and medical examinations, and their medical histories were taken using a questionnaire that included demographic and psychosocial items as well as issues related to selected variables of quality of life. In our research model, general life satisfaction was a dependent variable. The statistical analysis was conducted using the eta and Cramer's V correlation coefficients as well as a multidimensional logistic regression model. The main determinants of dissatisfaction with life in women with TS were short stature and feelings of loneliness and being handicapped. The determinants of life satisfaction in women with Turner syndrome were closely related to the private life of the study participants, in particular self-perception and feelings concerning their health status.
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
Reninger, Rosemary D.
Presents an interview with James Newton Howard, a film composer. Provides background information on Howard. Addresses topics such as his most challenging and rewarding scores, his musical background, and the benefits of being associated with the American Society of Composers, Authors, and Publishers (ASCAP). (CMK)
... Power Plant; Exemption 1.0 Background Entergy Nuclear Operations, Inc. (the licensee) is the holder of Facility Operating License No. DPR-59, which authorizes operation of the James A. FitzPatrick Nuclear Power... nuclear power reactors against radiological sabotage,'' published March 27, 2009, effective May 26, 2009...
... Power Plant; Exemption 1.0 Background Entergy Nuclear Operations, Inc. (the licensee) is the holder of Facility Operating License No. DPR-59, which authorizes operation of the James A. FitzPatrick Nuclear Power... nuclear power plants that were licensed before January 1, 1979, satisfy the requirements of 10 CFR Part 50...
prescindere dal contenuto. 1. Joyce stesso era solito lamentarsi del fatto che la critica non parlasse mai di Ulysses e. Finnegans Wake come testi comici. Si veda ad esempio il James Joyce di Richard Ellman: “Joyce commented to Georg Goyert of Jung, 'He seems to have read Ulysses from first to last without one smile.
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.
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.
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…
"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)
Cahan, Emily D.
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)
James Moir, a pioneering chemist in SouthAfrica, played a leading role in the SA Chemical Institute. He was an excellent organic chemist, who published widely on the relationship between the colour of an organic substance and its chemical structure. In addition to this, he worked as an analyst in the Government Chemical ...
James N Gray (Jim Gray) was a computer scientist whosemajor contributions include formalising a theory for reliabletransaction processing of large databases and ... including those of the staff, the journals, various programmes, and Current Science, has changed from 'ias.ernet.in' (or 'academy.ias.ernet.in') to 'ias.ac.in'.
James N Gray (Jim Gray) was a computer scientist whose major contributions include formalising a theory for reliable transaction processing of large databases and implementing systems based on his theory. This work was crucial to imple- ment reliable financial transactions by banks and other finan- cial institutions.
A letter from Gustav Hertz is published which he sent from Copenhagen on 23 March 1938 to James Franck asking him to help Lise Meitner. The threat to her of the Nazi regime and the relations between the three physicists are described in the introduction. (author)
James Moir was a pioneering chemist in the early 1900s who played a leading role in various chemical societies in South Africa. Although he was mainly an organic chemist, he was a very good all-round chemist, whose analytical and organic activities have already been covered in this journal. This article examines his ...
Gemini 7 pilot Astronaut James A. Lovell Jr. has temperature check with oral temperature probe attached to his space suit during final preflight preparations for the Gemini 7 space mission. The temperature probe allows doctors to monitor astronauts body temperature at any time during the mission.
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.
Moon, Jane S; Kuza, Catherine M; Desai, Manisha S
William James greatly influenced the fields of psychology, philosophy, and religion during the late 19 th and early 20 th centuries. This was the era of Modernism, a time when many writers rejected the certainty of Enlightenment ideals. Positivism, which rose to prominence in the early 19th century, had emphasized physical phenomena, empirical evidence, and the scientific method. Darwin's On the Origin of Species (1859), with its theory of natural selection, provided an explanation for the evolution of species apart from a divine Creator. Within this context, William James served as a "mediator between scientific agnosticism and the religious view of the world." James' own experience inhaling nitrous oxide played an important role in shaping his views. For James, the use of nitrous oxide served a key role in elucidating some of his most central ideas: 1) the value of religion, and the emphasis on mysticism and revelation (as opposed to theology and doctrine) as religion's foundation; 2) the universe as pluralistic (as opposed to absolutist, constant, eternal), driven by chance, experience, and change. Copyright © 2017 Elsevier Inc. All rights reserved.
Farrell, Edmund J.
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.
Oh, Yu Whan; Kim, Jung Hyuk; Chung, Kyoo Byung; Suh, Won Hyuck
The purpose of this study was to evaluate. the high-resolution CT features of Swyer-James syndrome with special attention to the airway lesions and to determine the clinical utility of high-resolution CT compared with that of chest radiography. In seven patients with Swyer-James syndrome, we retrospectively reviewed chest radiographs obtained during inspiration and expiration and high-resolution CT scans obtained in inspiration. The high-resolution CT appearance was evaluated and compared with that of chest radiography. On both chest radiographs and high-resolution CT, the affected lung volume was relatively diminished in four patients and normal in three patients. In all seven patients, chest radiographs showed hyperlucency of the lung which was unilateral in four and bilateral in three patients. Unilateral small hilum was seen in six patients and bronchiectasis was demonstrated in one patient on chest radiographs. The hyper lucent lung volume was not diminished on expiratory radiographs in all seven patients. In all patients, high-resolution CT demonstrated low attenuation regions of the lung either bilaterally(n=5) or unilaterally(n=2). Pulmonary vessels were markedly decreased in size and number in the lung parenchyma with low attenuation. Six patients had bronchiectasis on high-resolution CT, which were cylindrical or varicose in five and cystic in one. Bronchiolectasis was observed in three patients on high-resolution CT. The high-resolution CT findings are characteristic of Swyer-James syndrome. High-resolution CT is more sensitive than chest radiography in detecting regions of low attenuation and bronchiectasis and may be useful for the diagnosis of Swyer-James syndrome. Our results suggest that bronchiectasis is a frequently associated airway lesion of Swyer-James syndrome and bronchiolectasis may be associated in some cases
The US Department of Energy (DOE) proposes to lease the Strategic Petroleum Reserve's (SPR) St. James Terminal to private industry. The St. James Terminal consists of six storage tanks, a pumping station, two maine docks and ancillary facilities. DOE believes that the St. James Terminal presents an opportunity to establish a government- industry arrangement that could more effectively use this asset to serve the nations's oil distribution needs, reduce the operational cost of the SPR, and provide a source of revenue for the Government. DOE solicited interest in leasing its distribution facilities in a notice published March 16, 1994. In response, industry has expressed interest in leasing the St. James Terminal, as well as several DOE pipelines, to enhance the operation of its own facilities or to avoid having to construct new ones. Under such a lease, industry use would be subordinate to DOE use in the event of a national energy emergency. This Environmental Assessment describes the proposed leasing operation, its alternatives, and potential environmental impacts. Based on this analyses, DOE has determined that the proposed action is not a major Federal action significantly affecting the quality of the human environment within the meaning of the National Environmental Policy Act (NEPA) OF 1969 and has issued the Finding of No Significant Impact (FONSI)
Los, Evan; Quezada, Emilio; Chen, Zunqiu; Lapidus, Jodi; Silberbach, Michael
Cardiovascular disease is the major factor that reduces lifespan in Turner syndrome. High blood pressure (BP) is common in Turner syndrome and is the most easily treatable cardiovascular risk factor. We studied the prevalence of elevated screening systemic BP, awareness of the problem, and its clinical associations in a large group of girls attending the annual meeting of the Turner Syndrome Society of the United States. Among 168 girls aged 2 to 17 years, 42% had elevated screening BP (systolic and diastolic), yet only 8% reported a previous diagnosis of hypertension. History of aortic coarctation repair (17%) was positively associated with elevated systolic BP (52% versus 32%; PTurner syndrome phenotype/genotype probably includes an intrinsic risk for hypertension. Obesity and repaired aortic coarctation increase this risk further. There seems to be a BP awareness gap in girls with Turner syndrome. Because girls living with Turner syndrome are a sensitized population for hypertension, further study may provide clues to genetic factors leading to a better understanding of essential hypertension in the general population. © 2016 American Heart Association, Inc.
Detter, Ryan; Mooney, Michael; Fatig, Curtis
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
Saulo Gomes de Oliveira
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.
Suhamy Aline Mandelli
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.
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)
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
Parveen, Shagufta; Panicker, M M; Gupta, Pawan Kumar
A major cause of spontaneous abortions is chromosomal abnormality of foetal cells. We report the generation of an induced pluripotent stem cell line from the fibroblasts isolated from chorionic villi of an early spontaneously aborted foetus with Turner syndrome. The Turner syndrome villus induced pluripotent stem cell line is transgene free, retains the original XO karyotype, expresses pluripotency markers and undergoes trilineage differentiation. This pluripotent stem cell model of Turner syndrome should serve as a tool to study the developmental abnormalities of foetus and placenta that lead to early embryo lethality and profound symptoms like infertility in 45 XO survivors. Copyright © 2016 The Authors. Published by Elsevier B.V. All rights reserved.
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.
Background Identification of the subset females with Turner syndrome who face especially high risk of aortic dissection is difficult, and more optimal risk assessment is pivotal in order to improve outcomes. This study aimed to provide comprehensive, dynamic mathematical models of aortic disease in Turner syndrome by use of cardiovascular magnetic resonance (CMR). Methods A prospective framework of long-term aortic follow-up was used, which comprised diameters of the thoracic aorta prospectively assessed at nine positions by CMR at the three points in time (baseline [n = 102, age 38 ± 11 years], follow-up [after 2.4 ± 0.4 years, n = 80] and end-of-study [after 4.8 ± 0.5 years, n = 78]). Mathematical models were created that cohesively integrated all measurements at all positions, from all visits and for all participants, and using these models cohesive risk factor analyses were conducted based on which predictive modeling was performed on which predictive modelling was performed. Results The cohesive models showed that the variables with effect on aortic diameter were aortic coarctation (P aortic valves (P treatment (P = 0.005). Oestrogen replacement therapy had an effect of borderline significance (P = 0.08). From these data, mathematical models were created that enabled preemption of aortic dilation from CMR derived aortic diameters in scenarios both with and without known risk factors. The fit of the models to the actual data was good. Conclusion The presented cohesive model for prediction of aortic diameter in Turner syndrome could help identifying females with rapid growth of aortic diameter, and may enhance clinical decision-making based on serial CMR. PMID:23742092
Marston, Philip L.
Maxwell's life and science are presented with an account of the progression of Maxwell's research on electromagnetic theory. This is appropriate for the International Year of Light and Light-based Technologies, 2015. Maxwell's own confidence in his 1865 electromagnetic theory of light is examined, along with some of the difficulties he faced and the difficulties faced by some of his followers. Maxwell's interest in radiation pressure and electromagnetic stress is addressed, as well as subsequent developments. Some of Maxwell's other contributions to physics are discussed with an emphasis on the kinetic and molecular theory of gases. Maxwell's theistic perspective on science is illustrated, accompanied by examples of perspectives on Maxwell and his science provided by his peers and accounts of his interactions with those peers. Appendices examine the peer review of Maxwell's 1865 electromagnetic theory paper and the naming of the Maxwell Garnett effective media approximation and provide various supplemental perspectives. From Maxwell's publications and correspondence there is evidence he had a high regard for Michael Faraday. Examples of Maxwell's contributions to electromagnetic terminology are noted. - Highlights: • Maxwell’s 1865 “Dynamical theory of the electromagnetic field” is examined. • Maxwell affirmed confidence in his electromagnetic wave theory in his 1873 Treatise. • Discussion includes views and unpublished correspondence of Maxwell's contemporaries. • His contemporaries noticed the depth and breadth of Maxwell’s thought. • Maxwell’s contemporaries noticed his theistic perspective concerning science.
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
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. © 2015 Wiley Periodicals, Inc.
Nicholas T. Gamboa, B.S.
Full Text Available Turner syndrome (TS; 45,X0 is a relatively common chromosomal disorder that is associated with characteristic phenotypic stigmata: short stature, webbed neck, broad (“shield” chest with widely spaced nipples, cubitus valgus, ovarian dysgenesis (“streak ovary”, primary amenorrhea, renal anomalies, lymphedema of the hands or feet, and various vascular abnormalities. Abnormalities of the cardiovascular system are commonly reported in patient with TS, and vascular anomalies affecting various other organ systems are also frequently reported. To date, however, few reports of intracranial vascular malformations exist. The authors report the case of a patient with TS who was found to have multiple cerebral cavernous malformations on imaging.
Bodet Agustí, Eduard; Galido Ortego, Xavier; Ghani Martínez, Fares; García González, Begoña; Borràs Perera, Montserrat; Seara Gil, Angel
Turner syndrome (TS) is the human being's most frequent sex chromosome abnormality. Progressive sensorineural hearing loss is documented in more than 50% of the women affected by this syndrome. Although Mondini defect is the cochlear congenital malformation most frequently identified in other polymalformative syndromes, it has rarely been reported in TS. We describe the case of a 32-year-old woman with TS who presented progressive sensorineural hearing loss. The computed tomography of the ears showed bilateral Mondini deformity. Copyright © 2010 Elsevier España, S.L. All rights reserved.
Maciejewska-Jeske, Marzena; Czyzyk, Adam; Meczekalski, Blazej
Turner syndrome (TS) is a gonadal dysgenesis related to partial or total lack of one of the X chromosomes. It this report we describe a young patient presenting some somatic features of TS, who underwent spontaneous puberty and was eumenoorheic up to the age of 23. Using fluorescent in situ hybridization (FISH) mosaic karyotype (45X/47XXX) of TS and triple X syndrome was found. She presented uncommon for TS somatic hemihypotrophy and underwent growth hormone and surgical therapy. The patient was diagnosed with premature ovarian failure when she was 23, with absent follicular reserve. Clinical features of this case and a few published cases will be reviewed briefly.
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
Strasburger, Hans; Wade, Nicholas J.
James Jurin wrote an extended essay on distinct and indistinct vision in 1738. In it, he distinguished between "perfect," "distinct," and "indistinct vision" as perceptual categories, and his meticulous descriptions and analyses of perceptual phenomena contained observations that are akin to crowding. Remaining with the concepts of his day, however, he failed to recognize crowding as separate from spatial resolution. We present quotations from Jurin's essay and place them in the context of th...
Hegde, Shreya; Kundabala, M
This case report describes a rare treatment modality for Turner's hypoplasia done with a very conservative approach for the esthetic and functional problem of the defect. Diagnosis was made as Turner's hypoplasia of upper two central incisors with proximal caries. Treatment planning was done after considering many factors such as conservation of tooth structure, esthetics, occlusion and economy. Tooth preparation was done to receive Edge-up, all ceramic partial crowns for both the upper central incisors,using pressable all ceramic material and cemented with resin cement. PMID:24554869
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)
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
Franceschini, P.; Guala, A.; Camerano, P.; Franceschini, D.; Vardeu, M.P.; Signorile, F. [Universita di Torino (Italy)
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.
Carter, Cathy Ho, Ngaire Underhill, Sara James, Jessica Olszta, Jessica Brooks, Melissa May, and Rodolfo Cuevas. Because Lincoln Laboratory is at the...Corporation Applicon Arcon Corporation Ascension Technology Atlantic Aerospace Electronics Axsun Technologies Broadcloud Communications Carl Blake
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
Castro Ana Valéria Barros de
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.
Full Text Available Many congenital diseases are associated with growth failure, and patients with these diseases have specific growth patterns. As the growth patterns of affected individuals differ from those of normal populations, it is challenging to detect additional conditions that can influence growth using standard growth charts. Disease-specific growth charts are thus very useful tools and can be helpful for understanding the growth pattern and pathogenesis of congenital diseases. In addition, disease-specific growth charts allow doctors to detect deviations from the usual growth patterns for early diagnosis of an additional condition and can be used to evaluate the effects of growth-promoting treatment for patients. When developing these charts, factors that can affect the reliability of the charts should be considered. These factors include the definition of the disease with growth failure, selection bias in the measurements used to develop the charts, secular trends of the subjects, the numbers of subjects of varying ages and ethnicities, and the statistical method used to develop the charts. In this review, we summarize the development of disease-specific growth charts for Japanese individuals with Turner syndrome and Noonan syndrome and evaluate the efforts to collect unbiased measurements of subjects with these diseases. These charts were the only available disease-specific growth charts of Turner syndrome and Noonan syndrome for Asian populations and were developed using a Japanese population. Therefore, when these charts are adopted for Asian populations other than Japanese, different growth patterns should be considered.
Rodríguez-Hornillo, M; de la Riva, M C; Ojeda, R
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. Copyright © 2016 Sociedad Española de Anestesiología, Reanimación y Terapéutica del Dolor. Publicado por Elsevier España, S.L.U. All rights reserved.
Chadwick, Paul M; Smyth, Arlene; Liao, Lih-Mei
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.
Isojima, Tsuyoshi; Yokoya, Susumu
Many congenital diseases are associated with growth failure, and patients with these diseases have specific growth patterns. As the growth patterns of affected individuals differ from those of normal populations, it is challenging to detect additional conditions that can influence growth using standard growth charts. Disease-specific growth charts are thus very useful tools and can be helpful for understanding the growth pattern and pathogenesis of congenital diseases. In addition, disease-specific growth charts allow doctors to detect deviations from the usual growth patterns for early diagnosis of an additional condition and can be used to evaluate the effects of growth-promoting treatment for patients. When developing these charts, factors that can affect the reliability of the charts should be considered. These factors include the definition of the disease with growth failure, selection bias in the measurements used to develop the charts, secular trends of the subjects, the numbers of subjects of varying ages and ethnicities, and the statistical method used to develop the charts. In this review, we summarize the development of disease-specific growth charts for Japanese individuals with Turner syndrome and Noonan syndrome and evaluate the efforts to collect unbiased measurements of subjects with these diseases. These charts were the only available disease-specific growth charts of Turner syndrome and Noonan syndrome for Asian populations and were developed using a Japanese population. Therefore, when these charts are adopted for Asian populations other than Japanese, different growth patterns should be considered.
Chambers, Victor J.; Morey, Peter A.; Zukowski, Barbara J.; Kutyrev, Alexander S.; Collins, Nicholas R.
The James Webb Space Telescope (JWST) relies on several innovations to complete its five year mission. One vital technology is microshutters, the programmable field selectors that enable the Near Infrared Spectrometer (NIRSpec) to perform multi-object spectroscopy. Mission success depends on acquiring spectra from large numbers of galaxies by positioning shutter slits over faint targets. Precise selection of faint targets requires field selectors that are both high in contrast and stable in position. We have developed test facilities to evaluate microshutter contrast and alignment stability at their 35K operating temperature. These facilities used a novel application of image registration algorithms to obtain non-contact, sub-micron measurements in cryogenic conditions. The cryogenic motion of the shutters was successfully characterized. Optical results also demonstrated that shutter contrast far exceeds the NIRSpec requirements. Our test program has concluded with the delivery of a flight-qualified field selection subsystem to the NIRSpec bench.
Nielsen, Dorte Guldbrand; Nielsen, Jens Cosedis; Trolle, Christian
Low-dose QT-prolonging drugs may have detrimental effects on women with Turner's syndrome. Preventive measures would be to use potential QT-prolonging drugs with precaution and ensure that both before and during treatment, ECGs are evaluated and drug treatment stopped if the QT interval increases....
Hamilton, Laura S.
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…
Hughes, Ian P.; Choong, Catherine S.; Harris, Mark; Ambler, Geoffrey R.; Cutfield, Wayne S.; Hofman, Paul L.; Cowell, Chris T.; Werther, George; Cotterill, Andrew; Davies, Peter S. W.
P>Objective To investigate response to growth hormone (GH) in the first, second and third years of treatment in the total clinical cohort of Turner syndrome (TS) patients in Australia. Context Short stature is the most common clinical manifestation of TS. GH treatment improves growth. Design
Shircliffe, Barbara J.
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…
Ji, Jianguang; Zöller, Bengt; Sundquist, Jan; Sundquist, Kristina
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. © 2016 UICC.
Simon, T. J.; Takarae, Y.; DeBoer, T.; McDonald-McGinn, D. M.; Zackai, E. H.; Ross, J. L.
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…
Alessandra Bernadete Trovó de Marqui
Full Text Available ResumoObjetivo:Apresentar os principais resultados dos estudos que investigaram polimorfismos genéticos em síndrome de Turner, bem como sua associação com alguns sinais clínicos e etiologia desse distúrbio cromossômico.Fontes de dados:Revisão bibliográfica feita no PubMed, sem limite de período, com os seguintes termos: Turner syndrome and genetic polymorphism. Foram identificados 116 artigos e, de acordo com os critérios de inclusão e exclusão, 17 foram selecionados para leitura.Síntese dos dados:Os polimorfismos investigados em pacientes com síndrome de Turner estavam relacionados com déficit de crescimento, que causou baixa estatura, densidade mineral óssea baixa, autoimunidade e anomalias cardíacas, que podem estar presentes com frequências significativas nas pacientes. Também foi verificado o papel dos polimorfismos de único nucleotídeo (SNPs na etiologia da síndrome de Turner, ou seja, na não disjunção cromossômica.Conclusões:Os polimorfismos genéticos parecem estar associados à síndrome de Turner. Entretanto, por conta dos poucos estudos publicados e dos achados contraditórios, pesquisas em diferentes populações são necessárias para esclarecer o papel dessas variantes genéticas para os sinais clínicos e a etiologia do distúrbio cromossômico.
Bollasina, Massimo A.
I am deeply honored to have been selected as this year's recipient of the James R. Holton Junior Scientist Award, and I receive it with heartfelt gratitude and humility. I clearly remember Peter Webster's call announcing the amazing news and how I literally remained speechless and overwhelmed. I would like to express my sincere appreciation to the Atmospheric Sciences section of AGU and the members of the award committee. I am even more appreciative to have been presented this award handed by two outstanding scientists—Peter Webster and Bill Lau—who have remarkably contributed to our understanding of the Asian monsoon and tropical climate, my area of expertise.
Tubbs, R Shane; Rompala, Olivia; Verma, Ketan; Malakpour, Mehran; Shoja, Mohammadali M; Mortazavi, Martin M; Loukas, Marios
James Drake (1667-1707) was a renowned physician, anatomist, and writer whose name was recognized throughout London. He was highly involved in the politics of his time and was a well-known pamphleteer. He also delved into comedies and plays. Drake became a fellow of the Royal Society and the College of Physicians before his early death at 40 years of age. He authored one of the most deservedly popular medical treatises of his time, Anthropologia Nova, which remained a valuable resource to physicians and anatomists alike for decades. The present article reviews the contributions of this little known name in the history of anatomy. Copyright © 2011 Wiley Periodicals, Inc.
Phillip Luke Sinitiere
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.
Gardner, Jonathan P.
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.
Una serie de bocetos al óleo de James McNeill Whistler presenta un caso particular en la obra de este pintor, reconocido como uno de los iniciadores de la estética del ?arte por el arte? en Inglaterra. Se propone un recorrido por textos contemporáneos de las obras, en los que se alude a los Seis proyectos, a fin de ubicarlos en el contexto de la obra de Whistler y en relación con sus postulados estéticos. Nos interesa demostrar en especial el carácter central de estas pinturas en la obra ...
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
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.
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.
Nicolson, M; Fleming, J E E
James Willocks (1928-2004), a Glasgow obstetrician, was an important pioneer of obstetric ultrasound and the originator of the first clinically useful technique of fetal cephalometry. He collaborated with Tom Duggan, an engineer, who designed and built an electronic cephalometer to be used in conjunction with a Kelvin Hughes industrial flaw detector. Working in the Royal Maternity Hospital, Willocks was able to measure the biparietal diameter to an accuracy of better than 2mm. This major innovation enabled fetal growth in the third trimester to be accurately charted and thus greatly improved the detection of placental insufficiency, as well as the management of antepartum haemorrhage, hypertension and other complications of late pregnancy.
Thomas James Walker was a surgeon and general practitioner who worked in the city of Peterborough at a time when there were changes and innovations in the practice of medicine. After training in medicine and surgery at Edinburgh University, he qualified in London in 1857. He was a pioneer of laryngoscopy. He played an important role in introducing antiseptic surgery to the Peterborough Infirmary and was instrumental in the development of the operating theatre which opened in 1894. He was a philanthropist and collector of Roman and Saxon artefacts. In 1915, he was recognized as an outstanding member of the Peterborough community when he was offered the Freedom of the City.
Full Text Available Abstract Background Neocentromeres are rare human chromosomal aberrations in which a new centromere has formed in a previously non-centromeric location. We report the finding of a structurally abnormal X chromosome with a neocentromere in a 15-year-old girl with clinical features suggestive of Turner syndrome, including short stature and primary amenorrhea. Result G-banded chromosome analysis revealed a mosaic female karyotype involving two abnormal cell lines. One cell line (84% of analyzed metaphases had a structurally abnormal X chromosome (duplication of the long arm and deletion of the short arm and a normal X chromosome. The other cell line (16% of cells exhibited monosomy X. C-banding studies were negative for the abnormal X chromosome. FISH analysis revealed lack of hybridization of the abnormal X chromosome with both the X centromere-specific probe and the “all human centromeres” probe, a pattern consistent with lack of the X chromosome endogenous centromere. A FISH study using an XIST gene probe revealed the presence of two XIST genes, one on each long arm of the iso(Xq, required for inactivation of the abnormal X chromosome. R-banding also demonstrated inactivation of the abnormal X chromosome. An assay for centromeric protein C (CENP-C was positive on both the normal and the abnormal X chromosomes. The position of CENP-C in the abnormal X chromosome defined a neocentromere, which explains its mitotic stability. The karyotype is thus designated as 46,X,neo(X(qter- > q12::q12- > q21.2- > neo- > q21.2- > qter/45,X, which is consistent with stigmata of Turner syndrome. The mother of this patient has a normal karyotype; however, the father was not available for study. Conclusion To our knowledge, this is the first case of mosaic Turner syndrome involving an analphoid iso(Xq chromosome with a proven neocentromere among 90 previously described cases with a proven neocentromere.
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... 2 X chromosomes. Causes The typical amount of human chromosomes is 46. Chromosomes contain all of your genes and DNA, the building blocks of the body. Two of these chromosomes, the sex chromosomes, determine if you become a boy or a girl. Females typically have 2 of the same sex chromosomes, ...
... Failure to begin sexual changes expected during puberty Sexual development that "stalls" during teenage years Early end to ... doctor if you have concerns about physical or sexual development. Causes Most people are born with two sex ...
This thesis is a critical comparison of the accounts of religious belief proposed byWilliam James and Søren Kierkegaard. Both James and Kierkegaard greatly emphasizethe subjective aspects of religious belief. In view of this fact, surprisingly littlecomparative work has been done in this area. I contribute to this literature in two ways.Firstly, I make a brief assessment of what James knew of Kierkegaard’s work.Secondly, I draw four comparisons between Kierkegaard and James. In Chapter One Ie...
Full Text Available The relationship between literature and film is the subject of plentiful analyses and reflections within the general framework of Comparative Literature. A comparison between a literary work and its adaptations shows how filmmakers adhere to the principles of intertextuality. Exploring various adaptations of James Joyce’s The Dead (1914 and comparing them against each other are the main objectives of this research. This study examines how John Huston (1987, Travis Mills and William Ivey Long (2013 adapted James Joyce’s The Dead (1914 culturally, geopolitically, and sociologically. This study demonstrated that Huston’s adaptation was faithful to Joyce’s text in terms of character, costume, culture, and language, whereas Mills and Long’s adaptation was not fully loyal to Joyce especially in terms of character and culture. However, Mills and Long have attempted to create a language similar to Joyce’s. Further, consciousness and interior thoughts as subtle issues precisely shown in the novel were not illustrated wholly in both adaptations. Huston’s creativity was maintained in the last scene, picturing Gabriel’s monologue, whereas Mills and Long’s creativity was shown in creating new postmodern characters and culture.
Zara, Gabriella; Gasparotti, Roberto; Manara, Renzo
A 55-year-old woman complained of right scapular pain, like burning, radiating down his right arm and numbness in the first three fingers of the hand. Neurologic examination showed a slight deficit of the right brachial triceps muscle. Neurophysiological assessment showed a mild involvement of the seventh right spinal root (C7). Conventional MR imaging of the cervical spine showed mild disc protrusion at level C5-C6 without spinal root compression. High resolution MR neurography with multiplanar reconstruction along the course of the right brachial plexus showed a mild increase in signal intensity and thickening of the C7 root, middle trunk and posterior cord, consistent with Parsonage-Turner Syndrome. STIR images showed increased signal intensity in the right infraspinatus muscle innervated by the suprascapular nerve. In our case, sensitivity and specificity of the new MR sequences are higher than the clinical and neurophysiological evaluations. Copyright © 2011 Elsevier B.V. All rights reserved.
Carroll, Christine; Bass, Bill
A 24-year-old active duty female Soldier complained of right shoulder burning, stinging, electrical shock-like pain with radiation to the right hand after completing a ruck march. She also complained of swelling and feelings of her cold right hand. Examination showed a deficit in the deltoid, upper trapezius, supraspinatus, and also right winging of the scapula. She also exhibited weakness to right arm, weak right hand grip, and decreased sensation over the dorsal right hand. The right hand was also noticed to be colder to touch than the left one. She had tenderness to palpation over right paracervical muscles from C3 to C7. A previous magnetic resonance arthrogram of the right shoulder revealed no findings. The cervical magnetic resonance imagery showed mild disc protrusion at C5-C6 without spinal cord impingement. Based on the history and the physical findings, the patient was diagnosed with Parsonage-Turner syndrome.
Wiechec, Marcin; Knafel, Anna; Nocun, Agnieszka; Wiercinska, Ewa; Ludwin, Artur; Ludwin, Inga
To identify the most common first-trimester ultrasound findings in Turner syndrome (TS). To evaluate which first-trimester findings can be best used to predict the likelihood of TS. This was a prospective study, based on singleton pregnancies. The referrals included 6210 patients. Scan protocol covered a review of the early fetal anatomy and markers of aneuploidy. Study population comprised 5644 pregnancies: 5613 with a normal karyotype and 31 cases of TS. Statistically significant differences (p 3.5 mm and right dominant heart (RDH) augmented the risk of TS risk by 991 and 314 times, respectively. First-trimester sonography is a feasible method to identify the most characteristic features of TS fenotype. When the first-trimester pattern of TS is considered, a highly thickened NT, FHR above the 95th percentile, abnormal ductus venosus velocimetry, fetal hydrops, and RDH should be specifically searched for.
Folsom, Lisal J; Slaven, James E; Nabhan, Zeina M; Eugster, Erica A
To characterize puberty in girls with Turner syndrome (TS) and determine whether specific patient characteristics are associated with the timing of menarche. We also sought to compare spontaneous versus induced puberty in these patients. Medical records of girls followed in our Pediatric Endocrine clinic for TS from 2007 to 2015 were reviewed. Fifty-three girls were included, of whom 10 (19%) achieved menarche spontaneously and 43 (81%) received hormone replacement therapy (HRT). Of girls receiving HRT, a younger age at estrogen initiation correlated with a longer time to menarche (P = .02), and a mosaic karyotype was associated with a shorter time to menarche (P = .02), whereas no relationship was seen for body mass index, estrogen regimen, or maternal age at menarche. Nineteen girls (44%) receiving HRT had bleeding on estrogen alone at a wide dose range and were more likely to be on transdermal than oral preparations (P = .01). Girls with spontaneous puberty achieved menarche at a younger age (PTurner syndrome.
Williams, V K; Suppiah, R; Coppin, B; Nicholls, C M; Simsek, A; McGregor, L K
A 2-year-old girl presented to casualty with a right knee effusion after apparently minor trauma. Inflicted injury was suspected and full forensic coagulation studies were performed which revealed a mild deficiency of factor VIII. Screening of the exons and intron/exon boundaries of F8 gene indicated that the child appeared to be homozygous for the missense mutation c.5123G>A (p.Arg1708His) in exon 14 of the F8 gene. This mutation has been reported to be associated with mild haemophilia A. The possibility of hemizygosity had been masked by the test kit employed but referral to the genetics service and subsequent array CGH resulted in a diagnosis of Turner syndrome. © 2011 Blackwell Publishing Ltd.
Nishigaki, Satsuki; Hamazaki, Takashi; Tsuruhara, Akitoshi; Yoshida, Toshiko; Imamura, Takuji; Inada, Hiroshi; Fujita, Keinosuke; Shintaku, Haruo
Turner syndrome results from the entire or partial loss of the second X chromosome, and is associated with a number of medical problems. Affected women require long-term medical follow-up. This study investigated the status of medical follow-up focusing on the transition for young adult women with Turner syndrome (TS). The clinical profiles of 63 women with TS over the age of 16 were retrospectively examined. Thirty-three women are continuously followed by pediatric endocrinologists at our pediatric division. Twenty women were transferred to gynecologists as primary care physicians. Eight young adult women dropped out of the regular health check-up from our pediatric division even though 7 women were undergoing estrogen replacement therapy. We further reviewed the complications and management of the 33 women who were continuously followed at our pediatric division. A high incidence of obesity and liver dysfunction were observed in this age group (23.5±8.7). Nineteen out of 33 women consulted a cardiologist in the adult care division for cardiovascular complications. In the analysis of 20 women who were transferred to gynecologists, mainly two gynecologists accepted the transfer and have become accustomed to clinical care for TS. Seven women who were followed by the gynecologist in our facility were adequately managed for lifelong complications. Since there is no clear framework for transition in Japan, coordination with other specialists, especially gynecologists, is essential for the successful management of adult women with TS. Patient education and provision of information are required for establishing self-advocacy, which will prevent drop-out.
Y.K. van Pareren (Yvonne); S.M.P.F. de Muinck Keizer-Schrama (Sabine); Th. Stijnen (Theo); T.C.J. Sas (Theo); S.L.S. Drop (Stenvert)
textabstractGH treatment increases insulin levels in girls with Turner syndrome (TS), who are already predisposed to develop diabetes mellitus and other risk factors for developing cardiovascular disease. Therefore, in the present study, we investigated carbohydrate metabolism and
Blum, Werner F; Ross, Judith L; Zimmermann, Alan G; Quigley, Charmian A; Child, Christopher J; Kalifa, Gabriel; Deal, Cheri; Drop, Stenvert L S; Rappold, Gudrun; Cutler, Gordon B
Growth impairment in short stature homeobox-containing gene (SHOX) deficiency and Turner syndrome share a similar etiology. Because of the established effect of GH treatment on height in patients with Turner syndrome, we hypothesized that GH therapy would also stimulate growth in patients with SHOX deficiency. Our objectives were to evaluate long-term efficacy of GH treatment in short patients with SHOX deficiency and to compare the effect on final (adult) height (FH) in patients with SHOX deficiency and Turner syndrome. A prospective, multinational, open-label, randomized 3-arm study consisting of a 2-year control period and a subsequent extension period to FH. The treatment groups were 1) SHOX-D-C/GH (untreated during the control period, GH-treated during the extension), 2) SHOX-D-GH/GH, and 3) Turner-GH/GH (GH-treated during both study periods). Short-statured prepubertal patients with genetically confirmed SHOX deficiency (n = 49) or Turner syndrome (n = 24) who participated in the extension. Depending on the study arm, patients received a daily sc injection of 0.05 mg/kg recombinant human GH from start of the study or start of the extension until attainment of FH or study closure. Height SD score gain from start of GH treatment to FH was similar between the combined SHOX-deficient groups (n = 28, 1.34 ± 0.18 [least-squares mean ± SE]) and the Turner group (n = 19, 1.32 ± 0.22). In this FH population, 57% of the patients with SHOX deficiency and 32% of the patients with Turner syndrome achieved a FH greater than -2 SD score. GH treatment in short children with SHOX deficiency showed similar long-term efficacy as seen in girls with Turner syndrome.
Gravholt, Claus H; Andersen, Niels H; Conway, Gerard S; Dekkers, Olaf M; Geffner, Mitchell E; Klein, Karen O; Lin, Angela E; Mauras, Nelly; Quigley, Charmian A; Rubin, Karen; Sandberg, David E; Sas, Theo C J; Silberbach, Michael; Söderström-Anttila, Viveca; Stochholm, Kirstine; van Alfen-van derVelden, Janielle A; Woelfle, Joachim; Backeljauw, Philippe F
Turner syndrome affects 25-50 per 100,000 females and can involve multiple organs through all stages of life, necessitating multidisciplinary approach to care. Previous guidelines have highlighted this, but numerous important advances have been noted recently. These advances cover all specialty fields involved in the care of girls and women with TS. This paper is based on an international effort that started with exploratory meetings in 2014 in both Europe and the USA, and culminated with a Consensus Meeting held in Cincinnati, Ohio, USA in July 2016. Prior to this meeting, five groups each addressed important areas in TS care: 1) diagnostic and genetic issues, 2) growth and development during childhood and adolescence, 3) congenital and acquired cardiovascular disease, 4) transition and adult care, and 5) other comorbidities and neurocognitive issues. These groups produced proposals for the present guidelines. Additionally, four pertinent questions were submitted for formal GRADE (Grading of Recommendations, Assessment, Development and Evaluation) evaluation with a separate systematic review of the literature. These four questions related to the efficacy and most optimal treatment of short stature, infertility, hypertension, and hormonal replacement therapy. The guidelines project was initiated by the European Society for Endocrinology and the Pediatric Endocrine Society, in collaboration with The European Society for Pediatric Endocrinology, The Endocrine Society, European Society of Human Reproduction and Embryology, The American Heart Association, The Society for Endocrinology, and the European Society of Cardiology. The guideline has been formally endorsed by the European Society for Endocrinology, the Pediatric Endocrine Society, the European Society for Pediatric Endocrinology, the European Society of Human Reproduction and Embryology and the Endocrine Society. Advocacy groups appointed representatives who participated in pre-meeting discussions and in the
... Nuclear Operations, Inc., James A. Fitzpatrick Nuclear Power Plant, Vermont Yankee Nuclear Power Station, Pilgrim Nuclear Power Station, Request for Action AGENCY: Nuclear Regulatory Commission. ACTION: Request... that the NRC take action with regard to James A. Fitzpatrick Nuclear Power Plant, Vermont Yankee...
Käsper, Kalle, 1952-
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
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…
Visiting the settings of popular films and tv series has become a growing niche in the tourist market. Little is known about what makes these visits so appealing. This question is explored on the basis of the case of James Bond. Twenty-three interviews were conducted with James Bond fans who had
... COMMISSION Mr. James Chaisson; Order Prohibiting Involvement in NRC-Licensed Activities I Mr. James Chaisson... required TGR to limit the storage of radioactive material approved on the license to temporary job sites in... any involvement in NRC-licensed activities for a period of 3 years from the effective date of this...
Ferrari, Michel; Okamoto, Carol M.
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…
Thayer-Bacon, Barbara J.
In "A Pluralistic Universe," James argues that the world we experience is more than we can describe. Our theories are incomplete, open, and imperfect. Concepts function to try to shape, organize, and describe this open, flowing universe, while the universe continually escapes beyond our artificial boundaries. For James and myself, the…
Full Text Available The present paper represents our attempt to decipher the literary ideas that Henry James, Northrop Frye and David Lodge brought in criticism, therefore our main focus is on The Art of Fiction and The Art of the Novel, both belonging to Henry James, The Anatomy of Criticism -by Northrop Frye and The Art of Fiction of David Lodge. Particular attention is going to be given to Henry James and the concepts that he introduced in narratology, we will refer to the distinct features of Modernism, the literary current which has H. James as its representative and to the way Frye and Lodge regard „The Master’s” work from a critic point of view. The purpose is to familiarize the readers with the American author Henry James and to understand the complexity of his work.
Croce, P J
In the 5 years before 1878, when his career in psychology was becoming established, William James wrote a series of notes and reviews assessing the work of many of the pioneers in the new field. Adopting a public and confident voice, even while he was privately still uncertain and searching, James criticized the dogmatism of positivist and idealist claims to the study of the human brain and mind. In his short writings of 1873-1877, James started to formulate his own middle path. His first steps on that path show that he did not reject either scientific or philosophic inquiry; instead, he viewed scientific knowledge as a way to understand philosophical questions more deeply. Saving his sharpest critiques for positivism, James endorsed scientific investigation without materialist assmptions. While his career in psychology was still only a hope, James treated science as a means toward humanist insight.
Yu, Wayne H.; Richon, Karen
The James Webb Space Telescope (JWST) is a large-scale space telescope mission designed to study fundamental astrophysical questions ranging from the formation of the universe to the origin of planetary systems and the origins of life. JWSTs orbit design is a Libration Point Orbit (LPO) around the Sun-Earth/Moon (SEM) L2 point for a planned mission lifetime of 10.5 years. The launch readiness period for JWST is from Oct 1st, 2018 November 30th, 2018. This paper presents the first launch window analysis for the JWST observatory using finite-burn modeling; previous analysis assumed a single impulsive midcourse correction to achieve the mission orbit. The physical limitations of the JWST hardware stemming primarily from propulsion, communication and thermal requirements alongside updated mission design requirements result in significant launch window within the launch readiness period. Future plans are also discussed.
The James Webb Space Telescope (JWST) will enable a wealth of new scientific investigations in the near- and mid-infrared, with sensitivity and spatial/spectral resolution greatly surpassing its predecessors. In this paper, we focus upon Solar System science facilitated by JWST, discussing the most current information available concerning JWST instrument properties and observing techniques relevant to planetary science. We also present numerous example observing scenarios for a wide variety of Solar System targets to illustrate the potential of JWST science to the Solar System community. This paper updates and supersedes the Solar System white paper published by the JWST Project in 2010. It is based both on that paper and on a workshop held at the annual meeting of the Division for Planetary Sciences in Reno, NV, in 2012.
Full Text Available James Joyce had decided that 16 June 1904 should be the one day in the life of Leopold Bloom, about which he wrote his 800 page novel Ulysses. In his book, Joyce actually followed Mr Bloom that entire day, from his getting up and having the nowadays famous kidney breakfast, to the late evening, when he had to break into his own house on 7 Eccle Street to have a drink with Stephen Dedalus, the other main figure of the novel. The centenary of that very day took, accordingly, place in 2004. I have borrowed the identity of Mr Bloom to describe some street scenes from the centennial celebrations of Bloomsday in Dublin. After this intro-ductory presentation, part two of this article will attempt to analyse Bloomsday in terms of a Theatrical Event, embedded in an unusual and striking playing culture. In a third part, Mr Bloom will once more be allowed to make some concluding comments.
Astronaut James S. Voss, Expedition Two flight engineer, works with a series of cables on the EXPRESS Rack in the United State's Destiny laboratory on the International Space Station (ISS). The EXPRESS Rack is a standardized payload rack system that transports, stores, and supports experiments aboard the ISS. EXPRESS stands for EXpedite the PRocessing of Experiments to the Space Station, reflecting the fact that this system was developed specifically to maximize the Station's research capabilities. The EXPRESS Rack system supports science payloads in several disciplines, including biology, chemistry, physics, ecology, and medicine. With the EXPRESS Rack, getting experiments to space has never been easier or more affordable. With its standardized hardware interfaces and streamlined approach, the EXPRESS Rack enables quick, simple integration of multiple payloads aboard the ISS. The system is comprised of elements that remain on the ISS, as well as elements that travel back and forth between the ISS and Earth via the Space Shuttle.
Yu, Wayne; Richon, Karen
The James Webb Space Telescope (JWST) is a large-scale space telescope mission designed to study fundamental astrophysical questions ranging from the formation of the universe to the origin of planetary systems and the origins of life. JWSTs orbit design is a Libration Point Orbit (LPO) around the Sun-EarthMoon (SEM) L2 point for a planned mission lifetime of 10.5 years. The launch readiness period for JWST is from Oct 1st, 2018 November 30th, 2018. This paper presents the first launch window analysis for the JWST observatory using finite-burn modeling; previous analysis assumed a single impulsive midcourse correction to achieve the mission orbit. The physical limitations of the JWST hardware stemming primarily from propulsion, communication and thermal requirements alongside updated mission design requirements result in significant launch window within the launch readiness period. Future plans are also discussed.
Pacheco C, Dario; Ojeda Leon, Paulina; Varo Acosta, Humberto; Salcedo Veles, Patricia; Salazar Juan Carlos
This is a case report about a 67 years-old female patient with respiratory syndrome of 8 years with cough and dyspnoea. End-inspiration crackles in the pulmonary auscultation were found in left hemi thorax. Chest x-ray in expiration and inspiration showed hyperluscency and air trapping in the same hemi-thorax. Chest high-resolution CT revealed a low sized, oligohemic left lung with cylindrical bronchiectasis. Perfusion scintigraphy 99Tc labeled showed markedly left lung hypo-perfusion. Mild obstructive process was found in pulmonary function test. Lung biopsy of lingula reported bronchiolitis obliterans. Considered all the results that were obtained from clinical, x-ray and histopathology, a diagnosis of Swyer-James-Macleods syndrome was made
Maxwell, James Clerk
One of the greatest theoretical physicists of the 19th century, James Clerk Maxwell is best known for his studies of the electromagnetic field. The 101 scientific papers of this two-volume set, arranged chronologically, testify to Maxwell's profound scientific legacy and include the preliminary explorations that culminated in his most famous work, A Treatise on Electricity and Magnetism. One of the nineteenth century's most significant papers, "A Dynamical Theory of the Electromagnetic Field," appears here, along with similarly influential expositions of Maxwell's dynamical theory of gases. The author's extensive range of interests is well represented, from his discussions of color blindness and the composition of Saturn's rings to his essays on geometrical optics, ether, and protecting buildings from lightning. His less technical writings are featured as well, including items written for the Encyclopedia Britannica and Nature magazine, book reviews, and popular lectures. Striking in their originality, these ...
Full Text Available The article employs critical concepts from sociology and anthropology to examine the stereotype of the Vanishing Indian and disclose its contradictory character. The article argues that in James Fenimore Cooper’s late novels from the 1840s a type of American Indian appears who can be regarded as a Vanishing Indian in many respects as he displays some slight degree of assimilation but at the same time he can be found to reveal a surprising amount of resistance to the process of vanishing and marginalization. His peculiar mode of survival and his mode of living demonstrate a certain degree of acculturation, which comes close to Gerald Vizenor’s survivance and for which I propose a term critical integration. I base my study on Susquesus (alias Trackless, Cooper’s less well-known character from The Littlepage Manuscripts, a three-book family saga.
Megan E. Hazell
Full Text Available Little is known about the movements and home range of boreal woodland caribou (Rangifer tarandus in the James Bay lowlands, northern Ontario. Our preliminary study involves the use of GPS collars with Argos satellite system uplink to monitor movements of caribou and 10 animals were collared in December 2004. Animals appeared to have reduced rates of daily movement starting approximately in mid to late December and stretching until late February. Similarly, most animals appeared to have very reduced rates of movement from the beginning of May to the end of June indicating that this is their calving period (includes both parturition as well as the period immediately after parturition. Thus the over-wintering range was assumed to be where the animals were from mid-December to late February and the calving range was defined as the area they were in from the beginning of May to the end of June. Individual home-ranges were typically large, the mean 90% kernel home range for 2004 - 2007 was 41 579 km2. Over wintering areas and calving areas were small when compared to annual home-range size and reflect the reduced rates of movement during these time periods. Female caribou show site fidelity to calving grounds, using the same core areas year after year. However, the same level of site fidelity was not observed in over-wintering areas. The caribou in the James Bay lowlands display behaviours that are characteristic of both the forest-tundra and forest-forest ecotypes which may warrant the reconsideration of the validity of proposed ecotypes with respect to protection under species-at-risk legislation.
Full Text Available The aim of this article is the quest for knowledge in "The King James Bible" (1611 in terms of quantitative and qualitative research methodology with the application of the statistical analysis tool Antconc. The quest for knowledge with the use of corpus research aims at discussing the Biblical concept of knowledge through the origin, the object of knowledge, its implications and its constant development. Knowledge is often seen as of divine nature, reflected in the soul of man. It is based not only on logical, but also on the spiritual and ethical reasoning. The object of knowledge is light, reflecting the divine nature of knowledge which exceeds the intellect to reach a deeper spiritual human reasoning. In "The King James Bible" (1611 the authors of New Testament consider human knowledge to be imperfect and partial. They emphasize the need for a spiritual man aiming at reaching a complete knowledge. This spiritual development is based on the relationship between knowledge and faith, as well as knowledge and love. For the authors of the books of the New Testament there is no dichotomy between both knowledge and faith and knowledge and love, because faith and love depend on knowledge that originates in the word of God and leads to spiritual development. From this perspective, religious knowledge, love and mercy as well as faith developed through the knowledge of the biblical text leads to the knowledge of God, the enlightening source of ultimate knowledge. Thus, in the spiritual development of man not only the knowledge and faith but also emotional intelligence, which expresses itself through love and charity as the safer guide in all controversial issues, are important.
Gaia is the Anglo-Saxon term for the Hellenic term Gea or Ge, which means Earth. The GAIA hypothesis was launched almost 40 years ago by the famous chemist James Lovelock, who was engaged by the National Aeronautics and Space Administration (NASA) to create a sensitive instrument for searching forms of extraterrestrial life on other planets. Then he published the book The ages of GAIA, which perturbed the world's scientific public of those days. Lovelock struck upon this idea in the late sixties of the past century, during the space race with Russians, when he was hired hy the National Aeronautics and Space Administration to conduct a series of experiments to find and explore life forms on the planet Mars. Experiments executed by the American module Viking failed to trace any life form, as Lovelock had predicted. He called it a dead equilibrium. Then he turned to Earth, whose perspective is totally different from its first neighbors. Venus and Mars, and is far from a dead equilibrium. DAISYWORLD: In this hypothesis. Lovelock represents Earth as one living, giant super organism, composed of all living creatures and its material environnent. In that super organisnm, the level of oxygen, weather conditions, ocean salinity and so on are under constant influence of physical, chemical and biological processes, which provide the existence for such life forms on Earth. Dr James Lovelock represents a pioneer of climatology, and his hypothesis gives a unique insight into the correlation of dynamic processes on our planet, no matter whether they are of physical or biological nature.
Aristizábal, Juan Fernando; Smit, Rosana Martínez
Turner syndrome is caused by complete or partial absence of one X chromosome. These patients usually have a delay in growth and altered body proportions, causing sexual infantilism, short stature, delayed bone maturation, and variations in craniofacial morphology, among other systemic complications. The skeletal features associated with this syndrome include maxillary growth reduction with midface hypoplasia; mandibular micrognathia; high, narrow palate; V-shaped maxillary arch; and open bite. This case report shows a two-phase orthodontic treatment in a patient with Turner syndrome with a Class II malocclusion and severe deep bite, which is an unusual feature in patients with this disease. A conventional orthodontic treatment was performed, and after 20 months in retention the patient remains stable.
Telepova, Alena S; Romanenko, Svetlana A; Lemskaya, Natalya A; Maksimova, Yulia V; Shorina, Asia R; Yudkin, Dmitry V
Small supernumerary marker chromosomes can be derived from autosomes and sex chromosomes and can accompany chromosome pathologies, such as Turner syndrome. Here, we present a case report of a patient with mosaic Turner syndrome and Dandy-Walker syndrome carrying a marker chromosome. We showed the presence of the marker chromosome in 33.8% of blood cells. FISH of the probe derived from the marker chromosome by microdissection revealed that it originated from the centromeric region of chromosome X. Additionally, we showed no telomeric sequences and no XIST sequence in the marker chromosome. This is the first report of these two syndromes accompanied by the presence of a marker chromosome. Marker chromosome was X-derived and originated from centromeric region. Patient has mild symptoms but there is no XIST gene in marker chromosome. CPG137. Registered 03 March 2017.
Der Proteinpolymorphismus des Wachstumshormonrezeptors, verursacht durch die Deletion des Exons 3, wurde vor kurzem mit einem unterschiedlichen Ansprechen kleiner Kinder ohne Wachstumshormonmangel auf eine Hochdosis Wachstumshormontherapie in Verbindung gebracht (16). In der vorliegenden Arbeit wurde diese Verbindung an zwei genau definierten Patientenkollektiven überprüft. Untersucht wurden in einer retrospektiven Studie einerseits Turner-Mädchen (n=53), definiert über den Karyotyp, ander...
King, Jessica E; Plamondon, Jenna; Counts, Debra; Laney, Dawn; Dixon, Shannan DeLany
Delayed discussion about infertility with individuals affected by Turner syndrome (TS) has been found to result in psychological and social harm. The aim of this study was to identify barriers experienced when discussing infertility and determine resource types that may facilitate this conversation. An electronic survey, given to caregivers of girls with TS diagnosed at barriers in having the conversation. Although most individuals did not use resources to facilitate the conversation, they did express interest in additional resources.
Carla Antoniana Ferreira de Almeida Vieira
Full Text Available Objetivo: A Síndrome de Turner afeta aproximadamente 1:2.500 meninas nascidas vivas e decorre da ausência completa ou parcial do segundo cromossomo X. Embora o hipogonadismo e a infertilidade sejam os achados mais frequentes, 2-5 % das mulheres podem apresentar gravidez espontânea. O objetivo deste trabalho é relatar o desfecho de gravidez espontânea em uma portadora de Síndrome de Turner e apresentar uma revisão sobre o manejo dessa associação incomum. Relato do caso: Paciente, com Síndrome de Turner diagnosticada aos 8 anos, cariótipo 45,X(4%/46,XX(96%, apresentou desenvolvimento puberal espontâneo e menarca aos 15 anos. Aos 28 anos engravidou espontaneamente. Na 32ª semana de gestação, ultrassonografia revelou hidropsia fetal, placentomegalia e polidramnia. A gestação evoluiu para trabalho de parto prematuro, com óbito do recém-nascido no dia seguinte. A paciente desenvolveu depressão pós-parto. Conclusão: A gestação espontânea em uma mulher com Síndrome de Turner é um evento raro. Há um aumento de risco de malformações fetais, abortos espontâneos e natimortos. Gestantes portadoras da síndrome apresentam uma frequência elevada de complicações e alta taxa de mortalidade. As complicações mais comuns são diabetes gestacional, hipotireoidismo, hipertensão, pré-eclâmpsia, eclâmpsia e maior risco de dissecção/ruptura da aorta, sendo fundamental o acompanhamento multidisciplinar pré-concepcional e pré-natal.
Rao, Angoori Gnaneshwar; Swathi, T; Farheen, Saba Syeda; Kolli, Amit; Hari, Sharanya; Reddy, Uday Deshmukh; Deepak, Kondapi; Jagadevapuram, Kranthi
Desmoid tumor of rectus abdominis presenting with Grey-Turner's and Cullen's sign is rare. Herein, we report desmoid tumor of rectus abdominis in a 64-year-old multiparous female who presented with ecchymosis involving left flank and around the umbilicus. Histopathological examination of biopsy from the tumor confirmed the diagnosis of the desmoid tumor. She was referred to a surgeon for radical resection. PMID:28584378
Angoori Gnaneshwar Rao
Full Text Available Desmoid tumor of rectus abdominis presenting with Grey-Turner's and Cullen's sign is rare. Herein, we report desmoid tumor of rectus abdominis in a 64-year-old multiparous female who presented with ecchymosis involving left flank and around the umbilicus. Histopathological examination of biopsy from the tumor confirmed the diagnosis of the desmoid tumor. She was referred to a surgeon for radical resection.
NIENHUIS, HE; RONGENWESTERLAKEN, C; WIT, JM; OTTEN, BJ; KEIZERSCHRAMA, SMPFD; DRAYER, NM; DELEMARREVANDEWAAL, HA; VULSMA, T; OOSTDIJK, W; WAELKENS, JJJ
Girls with Turner syndrome were divided according to age (group A 6-12 years, and group B 12-19 years) and human growth hormone (GH) dose regimen (A1 and B1, three injections/week; A2 and B2, six injections/week). All groups responded to GH, 24 IU/M2/week, with an increase in height velocity, though
Smith, H.; Buckle, J.; Hills, R.; Bell, G.; Richer, J.; Curtis, E.; Withington, S.; Leech, J.; Williamson, R.; Dent, W.; Hastings, P.; Redman, R.; Wooff, B.; Yeung, K.; Friberg, P.; Walther, C.; Kackley, R.; Jenness, T.; Tilanus, R.; Dempsey, J.; Kroug, M.; Zijlstra, T.; Klapwijk, T. M.
This paper describes the key design features and performance of HARP, an innovative heterodyne focal-plane array receiver designed and built to operate in the submillimetre on the James Clerk Maxwell Telescope (JCMT) in Hawaii. The 4x4 element array uses SIS detectors, and is the first sub-millimetre spectral imaging system on the JCMT. HARP provides 3-dimensional imaging capability with high sensitivity at 325-375 GHz and affords significantly improved productivity in terms of speed of mapping. HARP was designed and built as a collaborative project between the Cavendish Astrophysics Group in Cambridge UK, the UK-Astronomy Technology Centre in Edinburgh UK, the Herzberg Institute of Astrophysics in Canada and the Joint Astronomy Centre in Hawaii. SIS devices for the mixers were fabricated to a Cavendish Astrophysics Group design at the Delft University of Technology in the Netherlands. Working in conjunction with the new Auto Correlation Spectral Imaging System (ACSIS), first light with HARP was achieved in December 2005. HARP synthesizes a number of interesting features across all elements of the design; we present key performance characteristics and images of astronomical observations obtained during commissioning.
Prueter, James; Stevens, Shawn M; Andaluz, Norberto; Samy, Ravi N
In this patient report, Parsonage-Turner syndrome (acute brachial neuropathy) developed in our patient 1 day after resection of a vestibular schwannoma by a middle cranial fossa approach. Aiming to increase awareness of this rare disorder among neurotologists, we describe differential diagnoses, work-up, and management strategies. A 67-year-old man treated for vestibular schwannoma at a single tertiary referral center. Surgery for vestibular schwannoma, electromyography for confirmation of diagnosis, and physical therapy. After ruling out postoperative complications by intracranial imaging and physical examination, electromyography was confirmatory of the suspected diagnosis, Parsonage-Turner syndrome; steroids were not indicated. With physical therapy as treatment, our patient is experiencing gradual recovery of all neurologic deficits, including gross motor function. As a rare condition reported only sporadically in the orthopedic and neurology literature, our patient with Parsonage-Turner syndrome represents (to our knowledge) the first within neurotology literature. This rare, idiopathic disease process is usually self-limiting, and may mimic cerebral-vascular accident or injury from surgical positioning. Its presentation is one of limited motor and sensory neuropathies of the brachial plexus distribution.
Trzcińska, Dorota; Olszewska, Elżbieta; Wiśniewski, Andrzej; Milde, Katarzyna; Madej, Marcin
It is established that patients with Turner syndrome (TS) have numerous defects of the skeletal system, including in the lower extremities structure. However, there are not enough studies in the literature about knee alignment and foot arches in girls and women with TS. Assessment of knees and feet in girls and women with TS. Sixty-two girls and women with TS were examined. The mean chronological age of the patients was 15.61±5.27 years, ranging from 6.36 to 27.04-years-old. All patients underwent physical examinations of their knees and feet. Additionally, almost 70% (n=42) underwent plantographic examinations and measurement of their heel angle and Clarke's angle. The formation of the foot in patients with TS was related to the reference values developed on the basis of studies of healthy girls (n=92). In women whose knee conditions were assessed only on the basis of a physical examination, a drawer test was performed each time to assess the stability of the knee ligament systems. In over 60% of patients with TS, incorrect knee alignment, primarily in the form of genu valgum (knock-knee), was diagnosed. At the same time, 60% of the patients tested only in physical examinations were diagnosed with knee ligament instabilities (positive drawer test). Physical examinations showing foot arch malformation - in equal proportion splay-foot and low-arched - were found in almost two-thirds of women with TS. However, on the basis of plantography, abnormalities in the longitudinal arch of the foot were diagnosed in 60% of patients with TS, and abnormalities in the transverse arch of the foot were diagnosed in 80% of patients with TS. In patients with TS, the occurrence of the following is characteristic: 1. Genu valgum of knees and heels; 2. Frequent cases of abnormally formed longitudinal and transverse arches of the foot, with the longitudinal arch of the foot usually being reduced, while the transverse arch is excessively elevated; 3. Asymmetry involving a frequent
Vera Lúcia Soares Chvatal
Full Text Available BACKGROUND: Article extracted from the doctoral research entitled "Experiences of the infertility phenomenon by patients suffering from Turner syndrome and variants: a clinical-qualitative study" approved by the University of Campinas. OBJECTIVES: To understand the defenses employed by women suffering from TS and different ways of dealing with the disease. METHOD: Qualitative research with exploratory design, non-experimental. The instrument consisted of a semidirect psychological interview, involving 13 women, undergoing semestral medical follow-up at the Center for Integral Attention to Women's Health (CAISM, and whose sampling was determined by saturation. Data was interpreted using the psychodynamic approach along with an eclectic framework of theoretical references for discussion in the spirit of interdisciplinary approach. RESULTS:These women displayed psychosocial conflicts such as difficulties in interpersonal relationships; feelings of resignation, anger, impotence, devaluation and depression symptoms. Defenses used were: repression, denial, annulment, fantasizing, adaptation and sublimation. DISCUSSION: Women suffering from TS and variants must deal with the disease's organic and psychic implications that cause great suffering and often hinder a saner social insertion. In this case, the study's findings can guide ambulatory psychological support concomitantly to the routine clinical protocol.OBJETIVO:Conhecer as defesas utilizadas por mulheres com síndrome de Turner (ST ou formas variantes para lidar com a doença. MÉTODO: Pesquisa qualitativa com desenho exploratório, não experimental. O instrumento consistiu em entrevista psicológica semidirigida, aplicada em 13 mulheres, cuja amostragem deu-se por saturação, as quais fazem acompanhamento semestral no Centro de Atendimento Integral à Saúde da Mulher. Os dados foram interpretados utilizando-se da abordagem psicodinâmica, aliada a um quadro eclético de referenciais te
Focuses on technology, on advances in such areas as aeronautics, electronics, physics, the space sciences, as well as computers and the attendant progress in medicine, robotics, and artificial intelligence. Describes educational resources for elementary and middle school students, including Web sites, CD-ROMs and software, videotapes, books,…
Kagan, K O; Sonek, J; Berg, X; Berg, C; Mallmann, M; Abele, H; Hoopmann, M; Geipel, A
To examine the effectiveness of nasal bone (NB) evaluation (including NB length (NBL)), prenasal thickness (PT) measurement, the PT:NBL ratio and the prefrontal space ratio (PFSR) in the identification of fetuses with trisomy 18 or 13, triploidy or Turner syndrome. This was a retrospective study using stored midsagittal two-dimensional images of the facial profile of fetuses with trisomy 18 or 13, triploidy or Turner syndrome in the second and third trimesters. For images of acceptable quality, measurements were obtained of NBL (where NB was present), PT, the PT:NBL ratio and PFSR, and these measurements were compared with previously published normal ranges. The search of databases identified 189 fetuses that met the study criteria: 132 (69.8%) with trisomy 18, 40 (21.2%) with trisomy 13, 10 (5.3%) with triploidy and seven (3.7%) with Turner syndrome. The NB was either absent or its measurement was below the 5(th) centile in 67 (50.8%), 20 (50.0%), five (50.0%) and two (28.6%) of the fetuses with trisomy 18, trisomy 13, triploidy and Turner syndrome, respectively. The PT measurement was above the 95(th) centile in 24 (18.2%), six (15.0%), one (10.0%) and one (14.3%) of the affected fetuses, respectively. The PFSR was abnormal in 72 (54.5%), 29 (72.5%), seven (70%) and four (57.1%) of the cases and the PT:NBL ratio was above the 95(th) centile or the nasal bone was absent in 72 (54.5%), 20 (50.0%), six (60.0%) and four (57.1%) cases, respectively. Although each of the facial markers considered provides some useful information in screening for trisomy 18, trisomy 13, triploidy and Turner syndrome, the performance of none of the markers appears to be as good as that in screening for trisomy 21. Copyright © 2014 ISUOG. Published by John Wiley & Sons Ltd.
the emergence of technology created new ethical dilemmas? In his paper “ What Is Computer Ethics,” James Moor wrote: Computer ethics is not a fixed...and Computer Ethics. Upper Saddle River, NJ. Prentice Hall, 1997 7. Moor, James H. What is Computer Ethics, found in Spinello, Case Studies in
Blackett, P R; Rundle, A C; Frane, J; Blethen, S L
To study whether body mass index (BMI) is different in girls with Turner syndrome (TS) compared to normal girls, and whether BMI in TS is affected by growth hormone (GH) treatment. A retrospective cross-sectional study. 2468 girls with TS enrolled in the National Cooperative Group Study (NCGS), a collaborative surveillance study for assessing GH-treated children. BMI and BMI standard deviation score (BMI SDS) at baseline and during GH treatment were computed from height and weight data. BMI in TS patients increases with age as expected. However, BMI SDS increased starting at about age 9 y. A similar pattern of increase in BMI SDS was observed after each year of GH treatment for up to 4 y, but GH treatment did not change the magnitude of increase. BMI and BMI SDS curves before and during GH treatment were essentially superimposable. These findings suggest that mechanisms specific for TS are responsible for the age-related increase in BMI SDS. This increase was unaffected by GH treatment.
Ros, Cristina; Alobid, Isam; Centellas, Silvia; Balasch, Juan; Mullol, Joaquim; Castelo-Branco, Camil
To assess the impact of Turner's syndrome (TS) and other congenital hypogonadisms (OCH) on the sense of smell and taste. An analytical study of three independent cohorts was designed: patients affected by TS, OCH, and a control group of healthy women taking contraception. Gynaecological Endocrinology Unit and Smell Clinic in Rhinology Unit of Hospital Clinic of Barcelona. Thirty TS patients between 20 and 50 years of age receiving hormone replacement treatment (HT) were included as the exposed cohort; fourteen age-matched women with OCH taking HT were recruited; forty-three age-matched healthy controls receiving hormone contraception treatment were selected as the control group. This group was matched with an historical cohort of forty healthy women without contraception, used to validate BAST-24 in Hospital Clinic of Barcelona. Clinical history, presence of nasal symptoms, general physical examination, nasal endoscopy, and Barcelona Smell Test-24 (BAST-24) and gustometry were carried out on all patients. TS physical dysmorphology features, intensity of nasal symptoms and signs of nasal obstruction were collected. BAST-24 test included 24 odours to assess both sensory (detection, memory and forced choice) and sensitivity (intensity, irritability, freshness and pleasantness) odour characteristics, as well as 4 tastes to evaluate taste domains (detection and forced choice). Healthy women taking hormone contraception felt odours with more intensity (p=0.002) and less irritability (psmell memory (psmell but not of taste, compared to OCH and healthy controls taking contraception. Smell sensitivity was not affected. Copyright © 2012 Elsevier Ireland Ltd. All rights reserved.
Miguel-Neto, Jamil; Carvalho, Annelise B; Marques-de-Faria, Antonia Paula; Guerra-Júnior, Gil; Maciel-Guerra, Andréa T
Phenotypic variability of Turner syndrome (TS) challenges clinicians, and undiagnosed mosaicism may lead to conflicting results of karyotype-phenotype correlations. This study assessed the extent of phenotypic variability and investigated the presence of karyotype-phenotype correlations. The sample comprised 80 patients with ≥50 cells analyzed in karyotype. Twenty were 45,X/46,X,+mar; three groups of 20 patients were constructed by matching those girls with the nearest-aged patient with 45,X, 45,X/46,XX and 45,X/46,X,i(Xq) or 46,X,i(Xq) karyotype. Data were obtained on height z-score, dysmorphic features, echocardiogram and urinary system sonography. The number of dysmorphic features ranged from one to 16 and was not correlated to age at diagnosis or height. The groups did not differ in height, number of dysmorphic features, cardiovascular and urinary system anomalies and frequency of any specific feature, except for short fourth metacarpal. Wide phenotypical variability of TS may be objectively described and its clinical picture is not correlated to karyotype.
Gould, Harley N; Bakalov, Vladimir K; Tankersley, Carolyn; Bondy, Carolyn A
Turner Syndrome (TS) is due to X chromosome monosomy and affects ~1 per 2500 females at birth. The major features are short stature and primary ovarian failure. Short stature and monosomy for a maternal X chromosome have been implicated in impaired functionality in adult life; however, data on adult outcomes in TS are limited. In this study we evaluated the influence of adult height and parental origin of the single X chromosome on education, employment, and marital outcomes among women with TS. This was a cross-sectional study of 240 women (25-67 years old) with TS participating in an intramural National Institutes of Health (NIH) study. Parental origin of the single X chromosome was determined by genotyping proband and parental genomic DNA. Information on education, employment, and family status was self reported. Normative data was obtained from the U.S. Bureaus of Census and Labor and Statistics. Seventy percent of the TS group had a baccalaureate degree or higher, compared with 30% of U.S. women (pemployed compared with 70% of the U.S. female population. Approximately 50% of the TS group had ever married, compared with 78% of the general female population (peducation, employment, or marital status. Women with TS currently achieve education and employment levels higher than the female U.S. population but are less likely to marry. Neither adult height nor parental origin of the single X chromosome influenced outcomes in education, employment, or marriage.
Sears, Derek W. G.
In this interview, Grenville Turner (Fig. 1) recounts how he became interested in meteorites during postdoctoral research with John Reynolds at the University of California, Berkeley, after completing a DPhil with Ken Mayne at the University of Oxford. At Berkeley, he worked on xenon isotopes with fellow students Bob Pepin and Craig Merrihue, but Reynolds' insistence that they analyze all the inert gases in their samples meant that they also made important contributions to Ne isotope studies and potassium-argon dating leading to the Ar-Ar technique. In 1964, Grenville obtained a teaching position at the University of Sheffield where he developed his own laboratory for inert gas isotope measurements. After the return of samples from the Moon by the Apollo program, he became involved in determining the chronology of volcanism and major impacts on the Moon. In 1988, Grenville and his team moved to the University of Manchester as part of a national reorganization of earth science departments. During the post Apollo years, Grenville's interest turned to the development of new instrumentation (resonance ionization mass spectrometry and the ion microprobe), and to problems in terrestrial isotope geochemistry, particularly the source of inert gases in fluid inclusions. He received the Leonard Medal of the Meteoritical Society in 1999, and he has also received awards from the Royal Society, the European Association of Geochemistry, and the Royal Astronomical Society.
Viviana G. Solís Neffa
Full Text Available In the context of the evolutionary studies that are being carried out in Turners sidoides autopolyploid complex (x= 7, a systematic survey was made in the northwestern area (Bolivia of its distribution. Six populations with salmon flowers and thirty five with yellow ones of the subsp. pinnatifida were found. The distribution of these populations is associated with climatic and spatial variables. The populations with salmon flowers live in the dry forests (Chaco Boreal Biogeographical Province, while yellow flowered populations occur in the inter-andean valleys (Boliviano-Tucumana Biogeographical Province. All the population studied are diploid. The results obtained support the allopatric diversification model of populations with yellow and salmon flowers at the diploid level, probably favoured by the orographic barriers and climatic changes that have arisen during the Andes development and Quaternary glaciations. Moreover, our analysis evidences that the north western area of T. sidoides constitutes an important centre of variation of the subsp. pinnatifida and the major centre of diploids hitherto detected
Cleemann, Line; Hjerrild, Britta E; Lauridsen, Anna L
CONTEXT: Reduced bone mineral density (BMD) and increased risk of fractures are present in many women with Turner syndrome (TS). OBJECTIVE: Examine longitudinal changes in BMD in TS and relate changes to biochemical parameters. DESIGN: Prospective, pragmatic, and observational study. Examinations......-informed women with TS, being encouraged to maintain a healthy lifestyle, including HRT and intake of calcium and vitamin D.......-dominant forearm. Bone formation and resorption markers, sex hormones, IGF1, and maximal oxygen uptake. RESULTS: At follow-up, forearm BMD, radius ultradistal BMD, and hip BMD remained unchanged, radius 1/3 BMD declined (0.601+/-0.059 vs 0.592+/-0.059, P=0.03), while spine BMD increased (0.972+/-0.139 vs 1.......010+/-0.144, Pformation markers did not change over time in TS. Bone resorption markers decreased over time in TS. Testosterone, IGF1, and maximal oxygen uptake was significantly reduced in TS. CONCLUSION: Longitudinal changes in BMD in TS were slight. BMD can be maintained at most sites in well...
Shi, Kun; Liu, Li; He, Yao-Juan; Li, Duan; Yuan, Lian-Xiong; Lash, Gendie E; Li, Li
Turner syndrome (TS) is associated with decreased bone mineral density and increased fracture rate. However, the developmental trajectory of bone density or body composition in patients with TS is still unclear. The present study tested the hypothesis that different karyotypes and/or age contributes to abnormal body composition and decreased bone mineral status parameters in patients with TS. This study included 24 girls with TS, in which 13 girls exhibited X0 karyotype and 11 had mosaicism. Quantitative ultrasound (QUS) assessed the bone mineral status of the calcaneus, including bone mineral density (BMD), amplitude-dependent speed of sound (AD-SOS), broadband ultrasound attenuation (BUA) and InBody 770 assessed body composition. Pearson's test was performed to correlate measured parameters with patient age. The body composition and bone mineral status parameters were not significantly influenced by patient karyotype. There was a correlation between patient age and AD-SOS (r = -0.61, P = 0.002) and BUA (r = 0.50, P = 0.013) but not BMD (r = -0.19, P = 0.379). In conclusion, there was no effect of karyotype on body composition or body mineral status. Bone mineral status, as evidenced by changes in AD-SOS and BUA, alters with age regardless of karyotype. The developmental trajectory demonstrated in the current study warrants further validation in a longitudinal study.
Lepage, Jean-François; Dunkin, Bria; Hong, David S; Reiss, Allan L
Social deficits are prevalent in Turner syndrome (TS); however, the extent to which these difficulties are secondary to characteristic cognitive impairments is not well known. Here, we sought to establish the relative contribution of executive functions, visuospatial abilities, and IQ to social difficulties in young girls with TS. Forty TS girls and 19 typically developing (TD) children were assessed with the Social Responsiveness Scale (SRS), the Motor-Free Visual Spatial Test (MVPT-3), the Behavior Rating Inventory of Executive Function (BRIEF), and an IQ test. Hierarchical multiple regression analyses were conducted with the SRS subscales as outcome variables. In a first step, the cognitive factors were entered (verbal IQ, BRIEF global score, MVPT-3, and age), followed by the group variable in a second step. In comparison to TD, TS participants were significantly impaired on all main measures. All six regression models with the SRS subscales were significant and revealed that global executive functions explained the largest portion of the variance on all subscales and the total score. Even after controlling for cognitive elements, the group factor still explained a significant portion of the variance of the Social Cognition, Social Awareness, and Autistic Mannerisms subscales. In contrast, the group factor was not a significant predictor of Social Motivation and Social Communication scores. These results suggest that executive dysfunctions play a role in social impairments encountered in TS, but also that some specific aspects of social behavior are altered beyond what can be attributed to cognitive difficulties in this population.
Hishimura-Yonemaru, Nozomi; Okuhara, Koji; Takahashi, Nobuhiro; Tonoki, Hidefumi; Iizuka, Susumu; Tajima, Toshihiro
Patients with Turner syndrome (TS) frequently show short stature and skeletal deformities, such as kyphosis and scoliosis. However, to the best of our knowledge, limb length discrepancy (LLD) has not yet been reported in patients with TS. The case of a 12-yr-old girl with 45,X/47,XXX mosaic TS showing LLD is herein presented. She was on GH therapy for short stature and was noted to have scoliosis in the standing position at a regular examination; however, the scoliosis became less evident in the supine position, which is indicative of LLD. The length of the left leg was 5.0 cm shorter than that of the right leg when measured. She was referred to orthopedics and underwent right distal femoral and right proximal tibial staple epiphysiodesis to shorten the abnormally long limb at 10 yr 6 mo of age. One year after the operation, the LLD decreased from 5.0 to 1.5 cm. During this period, GH was continued. LLD is a rare complication in TS, but when patients with TS show scoliosis in the standing position, re-evaluation for scoliosis in the supine position should be performed and the lengths of both legs should be measured.
Roelofs, Renée L; Wingbermühle, Ellen; Freriks, Kim; Verhaak, Chris M; Kessels, Roy P C; Egger, Jos I M
Noonan syndrome (NS) and Turner syndrome (TS) are associated with cognitive problems and difficulties in affective information processing. While both phenotypes include short stature, facial dysmorphisms, and a webbed neck, genetic etiology and neuropsychological phenotype differ significantly. The present study examines putative differences in affective information processing and social assertiveness between adult women with NS and TS. Twenty-six women with NS, 40 women with TS, and 40 female controls were matched on age and intelligence, and subsequently compared on (1) alexithymia, measured by the Bermond-Vorst Alexithymia Questionnaire, (2) emotion perception, evaluated by the Emotion Recognition Task, and (3) social assertiveness and social discomfort, assessed by the Scale for Interpersonal Behavior. Women with TS showed higher levels of alexithymia than women with NS and controls (P-values social assertiveness and the level of social discomfort. Women with NS and TS demonstrated different patterns of impairment in affective information processing, in terms of alexithymia and emotion perception. The present findings suggest neuropsychological phenotyping to be helpful for the diagnosis of specific cognitive-affective deficits in genetic syndromes, for the enhancement of genetic counseling, and for the development of personalized treatment plans. © 2015 Wiley Periodicals, Inc.
Meccia, Virna L.; Simoncelli, Simona; Sparnocchia, Stefania
The physical reanalysis component of the Mediterranean Forecasting System is used to construct a high-resolution three-dimensional atlas of the Turner Angle. An assessment of the model quality shows a maximum degree of agreement with observations in the water column between 150 and 1000 m depth. The mean state of the favourable conditions for double diffusion processes is evaluated and the recent decadal variability is studied in terms of changes in the water mass properties. The results show that approximately 50% of the Mediterranean Sea is favourable to double diffusion processes, from which around 47% is associated with salt fingering. The Tyrrhenian, Ionian and southwestern Mediterranean are the most vulnerable basins to salt fingering, and the strongest processes can occur in the Tyrrhenian deep waters. Diffusive convection is most likely to occur in the Ionian, Aegean and eastern Mediterranean at vertical levels deeper than 1000 m. The observed gradual warming and salinification of the Mediterranean after 1997 decreased and increased the possibilities of the occurrence of salt fingers and double diffusive convections, respectively. The climatological atlas that is presented in this paper provides a three-dimensional picture of the regions that are either doubly stable or favourable to double diffusion instability and allows for the characterization of the diffusive properties of the water masses.
Full Text Available De 38 pacientes con síndrome de Turner, 20 presentaron el cariotipo clásico 45,X0 y una el mosaico 45,X0/46,XX. Las otras 17 pacientes mostraron diferentes anomalías estructurales: diez tenían una o dos líneas con isocromosomas de brazos largos, ocho de ellas con mosaicismo 45,X0; una paciente presentó 46,X, deI (Xp o 46,X,tel (Xq por tratarse de una falta total de brazos cortos; tres mostraron diferentes porcentajes de líneas monosómicas y anillos X: 45,X0/46,X.dXI; dos pacientes tenían anomalías estructurales d el cromosoma Y: 45,X/46, XY nf y 45.X0/46.X.idic (Yq y una paciente mostró 45,X0/46,X.f (X. Estas pacientes fueron remitidas para evaluación clínica y citogenetica al Grupo de Gen6tica del Instituto Nacional de Salud de Colombia, de 1977 a 1983. Se discuten algunas observaciones sobre el posible origen de las anomalías cromosómicas, la edad de los padres, las edades y motivos de consulta de las pacientes y los hallazgos clínicos
Pedersen Erik M
Full Text Available Abstract Background The risk of aortic dissection is 100-fold increased in Turner syndrome (TS. Unfortunately, risk stratification is inadequate due to a lack of insight into the natural course of the syndrome-associated aortopathy. Therefore, this study aimed to prospectively assess aortic dimensions in TS. Methods Eighty adult TS patients were examined twice with a mean follow-up of 2.4 ± 0.4 years, and 67 healthy age and gender-matched controls were examined once. Aortic dimensions were measured at nine predefined positions using 3D, non-contrast and free-breathing cardiovascular magnetic resonance. Transthoracic echocardiography and 24-hour ambulatory blood pressure were also performed. Results At baseline, aortic diameters (body surface area indexed were larger at all positions in TS. Aortic dilation was more prevalent at all positions excluding the distal transverse aortic arch. Aortic diameter increased in the aortic sinus, at the sinotubular junction and in the mid-ascending aorta with growth rates of 0.1 - 0.4 mm/year. Aortic diameters at all other positions were unchanged. The bicuspid aortic valve conferred higher aortic sinus growth rates (p Conclusion A general aortopathy is present in TS with enlargement of the ascending aorta, which is accelerated in the presence of a bicuspid aortic valve.
Rizell, Sara; Kjellberg, Heidrun; Dietz, Wolfram; Norén, Jörgen G; Lundgren, Ted
In Turner syndrome (TS) one X-chromosome is missing or defective. The amelogenin gene, located on the X-chromosome, plays a key role during the formation of dental enamel. The aim of this study was to find support for the hypothesis that impaired expression of the X-chromosome influences mineral incorporation during amelogenesis and, indirectly, during dentinogenesis. Primary tooth enamel and dentin from girls with TS were analysed and compared with the enamel and dentin of primary teeth from healthy girls. Qualitative and quantitative changes in the composition of TS enamel were found, in addition to morphological differences. Higher frequencies of subsurface lesions and rod-free zones were seen in TS enamel using polarized light microscopy. Similarly, scanning electron microscopy showed that the enamel rods from TS teeth were of atypical sizes and directions. Using X-ray microanalysis, high levels of calcium and phosphorus, and low levels of carbon, were found in both TS enamel and dentin. Using microradiography, a lower degree of mineralization was found in TS enamel. Rule induction analysis was performed to identify characteristic element patterns for TS. Low values of carbon were the most critical attributes for the outcome TS. The conclusion was that impaired expression of the X-chromosome has an impact on dental hard tissue formation.
Over the past 20 years the Hubble Space Telescope has revolutionized our understanding of the Universe. Most recently, the complete refurbishment of Hubble in 2009 has given new life to the telescope and the new science instruments have already produced groundbreaking science results, revealing some of the most distant galaxy candidates ever discovered. Despite the remarkable advances in astrophysics that Hubble has provided, the new questions that have arisen demand a new space telescope with new technologies and capabilities. I will present the exciting new technology development and science goals of NASA's James Webb Space Telescope, which is currently being built and tested and will be launched this decade.
Full Text Available The current study aims to investigate James Joyce’s Exiles in light of Jacques Lacan’s theory of desire. Richard Rowan and Robert Hand as the major male characters of the play are involved with intersubjective relationships, the motor force behind which is language and its constitutive lack. Facing lack in the Symbolic order on account of language, they take recourse to desire to find object petit a. Being in a mutual relationship, object petit a fuels desire which makes the subjects establish their identity in accordance with the Other’s desire. What they seek and need is the Other’s desire to give meaning to their otherwise fruitless quest in life. Richard and Robert seek diverse object petit a’s, representative of their goals and ideals in life, to re-fill their lack. Being caught up in the same metonymical deferral of desire, they seek other surrogates throughout the play. This metonymical tendency to seek the Other’s desire paves the ground for the reproduction of desire through fantasy.
Beltran Roca Martinez
Full Text Available Este artículo es una revisión crítica de las aportaciones teóricas de James Scott. Se estudian las principales ideas de toda su producción bibliográfica entre 1976 y 2012, subrayando tanto las aportaciones como las principales críticas suscitadas. Comienza con una biografía y descripción del contexto de su obra. Sigue su revisión de los conceptos de economía moral, hegemonía y resistencia. Posteriormente explora su crítica a la planificación centralizada y su concepto de mētis o conocimiento práctico. Más adelante se examina su trabajo sobre las estrategias de huida del Estado en las montañas del Sudeste Asiático. Finalmente se discute sobre la particular relación de Scott con el anarquismo, más explícita en sus últimas obras.
William Thomas Mari
Full Text Available To the enterprising journalists of early eighteenth-century Great Britain, the refined status of “author” remained elusive. Journalism itself was a nascent occupation formed in the processes of cultural legitimatization, commercialization, and politicization of authorship. In London, James Ralph, an American expatriate and political writer, emerged as a spokesman for journalism. In his Case of Authors by Profession or Trade, a short treatise published in 1758, Ralph argued that “professional” authors included journalists and other non-patroned writers. They deserved respect as an occupational group, and a special role in society. Ralph equated and extended the privileged notions of authorship and the role of the author — essentially, respectability and some limited independence from political and financial pressures — to his fellow journalists. His Case is worth revisiting because it shows how literary culture was being challenged in his era, extended and subverted as it was by his fellow journalists and their more transitory creations.
Henry Stapp attempts to resolve the Cartesian dilemma by introducing what the author would characterize as an ontological dualism between mind and matter. His model for mind comes from William James' description of conscious events and for matter from Werner Heisenberg's ontological model for quantum events (wave function collapse). His demonstration of the isomorphism between the two types of events is successful, but in the author's opinion fails to establish a monistic, scientific theory. The author traces Stapp's failure to his adamant rejection of arbitrariness, or 'randomness'. This makes it impossible for him (or for Bohr and Pauli before him) to understand the power of Darwin's explanation of biology, let along the triumphs of modern 'neo-Darwinism'. The author notes that the point at issue is a modern version of the unresolved opposition between Leucippus and Democritus on one side and Epicurus on the other. Stapp's views are contrasted with recent discussions of consciousness by two eminent biologists: Crick and Edelman. They locate the problem firmly in the context of natural selection on the surface of the earth. Their approaches provide a sound basis for further scientific work. The author briefly examines the connection between this scientific (rather than ontological) framework and the new fundamental theory based on bit-strings and the combinatorial hierarchy
James Tuck was well known for starting the Project Sherwood group at Los Alamos Scientific Laboratory in 1952. This group was formed to study and develop concepts for controlled fusion energy. In his later years after retiring from Controlled Fusion Division, he continued research at Los Alamos on the topic of ball lightning. He traveled widely giving lectures on both observations of others and his own experimental efforts. He collected anecdotal observations obtained from those in his lecture audiences during his travels and from responses from newspaper articles where he asked for specific information from ball lightning observers. He finally cut off this collection of data when the number of responses became overwhelming. The author's primary publication on ball lightning was a short laboratory report. He planned on publishing a book on the subject but this was never completed before his death. Tuck focused his experimental effort on attempting to duplicate the production of plasma balls claimed to be observed in US Navy submarines when a switch was opened under overload conditions with battery power. During lunch breaks he made use of a Los Alamos N-division battery bank facility to mock up a submarine power pack and switch gear. This non-funded effort was abruptly terminated when an explosion occurred in the facility. An overview of Tuck's research and views will be given. The flavor Jim's personality as well as a ball produced with his experimental apparatus will be shown using video chips.
Byars, James Lee; Eleey, Peter
"I see my autobiography as an arbitrary segment of so many pages of time, of things that I have paid attention to at this point in my life," wrote James Lee Byars (1932-1997) in 1969. He was then 37, about half the average male lifespan at the time, and accordingly thought it appropriate to write his "1/2 autobiography." Byars' art ranged from highly refined objects to extremely minimal performance and events, and books, ephemera and correspondence that he distributed widely among friends and colleagues. Today, more than 15 years after his death, assessments of his art must negotiate Byars' performance of his charismatic self in his life and art. For his first major posthumous survey in the US, exhibition curators Magalí Arriola and Peter Eleey decided to produce a catalogue in two "halves," playing on his "1/2 autobiography": a catalogue of the exhibition itself, including new scholarship, and a sourcebook of primary documents. 1/2 an Autobiography, Sourcebook constitutes the latter volume--a reference guid...
Cameron, Ewen A; MacGillivray, Neil
This paper analyses two key aspects of the life and work of Sir James Young Simpson: his evangelical Christianity and his reaction to criticism following his use of anaesthesia in obstetrics. Simpson's personal religious struggle is placed in the context of the devastating events surrounding the Disruption of the established Church of Scotland in 1843. Whatever his involvement in the events of that year, the development of his faith demonstrates his simple evangelical conviction in the atonement of Christ, very much in keeping with that of many believers in Victorian Britain. There has arisen the notion (still current as is clear from publications in medical journals within recent years) that there was a savage religious response, especially in Presbyterian Scotland, to his use of chloroform - in reality the attack on Simpson's enthusiastic promotion of chloroform was brief, sporadic and of little moment. Simpson's carefully constructed counter to criticism of anaesthesia, drawing on considerable theological and linguistic expertise, reveals a complexity at odds with the simplicity of his faith. The contrast is so great and the reaction so elaborate that it is proposed that Simpson deliberately exaggerated the affair, believing the publicity could only be valuable.
McCartney, Mark; Whitaker, Andrew
James Clerk Maxwell (1831-1879) had a relatively brief, but remarkable life, lived in his beloved rural home of Glenlair, and variously in Edinburgh, Aberdeen, London and Cambridge. His scholarship also ranged wide - covering all the major aspects of Victorian natural philosophy. He was one of the most important mathematical physicists of all time, coming only after Newton and Einstein. In scientific terms his immortality is enshrined in electromagnetism and Maxwell's equations, but as this book shows, there was much more to Maxwell than electromagnetism, both in terms of his science and his wider life. Maxwell's life and contributions to science are so rich that they demand the expertise of a range of academics - physicists, mathematicians, and historians of science and literature - to do him justice. The various chapters will enable Maxwell to be seen from a range of perspectives. Chapters 1 to 4 deal with wider aspects of his life in time and place, at Aberdeen, King's College London and the Cavendish Labo...
Senecal, P.; Egre, D.
The LaGrande hydroelectric project in northwest Quebec, originally begun in 1972, was blocked by the Cree Indians and a negotiated settlement was reached in 1975 to continue it in exchange for compensation, land rights, and other matters. The James Bay and Northern Quebec Agreement contained provisions regulating the use of land and aimed at preserving the traditional Cree way of life. Other complementary agreements were signed in the 1980s. The impact of river-system modifications on wildlife harvesting and the effect of access roads on Cree communities are discussed. Flooding of hunting lands affected some traplines, and the low productivity of shore habitats and the high levels of mercury in some fish have greatly limited use of the LaGrande reservoirs for other purposes. Stream navigation at some communities was made more difficult because of changed river flows. The impact of the roads has been more positive, since the roads have facilitated trade and reduced local prices of many goods, and made wildlife harvesting easier and more evenly distributed. An income security program for hunters, fishers, and trappers has helped preserve a traditional lifestyle. A sharp increase in salary income, indicating consolidation of the employment market in the region, is the most significant economic impact of the LaGrande project agreement. 6 refs
Full Text Available The traditional answer card reading method using OMR (Optical Mark Reader, most commonly, OMR special card special use, less versatile, high cost, aiming at the existing problems proposed a method based on pattern recognition of the answer card identification method. Using the method based on Line Segment Detector to detect the tilt of the image, the existence of tilt image rotation correction, and eventually achieve positioning and detection of answers to the answer sheet .Pattern recognition technology for automatic reading, high accuracy, detect faster
Bradford, Carol M; Tupa, Lynn; Wiese, Debbie; Hurley, Timothy J; Zimmerman, Ralph
A 29-yr-old female western lowland gorilla (Gorilla gorilla gorilla) was evaluated for low fertility and a midterm abortion. Laboratory testing included karyotyping, which revealed an unusual mosaicism for Turner syndrome with Triple X (47,X/49,XXX). This appears to be the first report of Turner syndrome in a great ape. In humans, Turner syndrome occurs in approximately 1 in 3,000 females, with half of those monosomic for the X chromosome. A small proportion is mosaic for a triple X cell line (3-4%). In humans, Turner syndrome is associated with characteristic phenotype including short stature, obesity, a broad chest with widely spaced nipples, webbing of the neck, and anteverted ears. This individual gorilla is significantly shorter in stature than conspecifics and is obese despite normal caloric intake. Individuals with Turner syndrome should also be screened for common health issues, including congenital heart defects, obesity, kidney abnormalities, hypertension, hypothyroidism, and diabetes mellitus. Animals with decreased fertility, multiple miscarriages, fetal losses, unusual phenotypes, or a combination of these symptoms should be evaluated for genetic abnormalities.
Pietzner, Vera; Weigel, Johannes F W; Wand, Dorothea; Merkenschlager, Andreas; Bernhard, Matthias K
Impaired glucose tolerance and type 2 diabetes are well-known features in patients with Turner syndrome. To the best of our knowledge, there is only one reported case of hyperinsulinemic hypoglycemia associated with a complex mosaic Turner syndrome available in the current literature. We report on the case of a 13-month-old girl with a complex mosaic Turner genotype and mild hyperinsulinemic hypoglycemia responsive to diazoxide therapy. Cytogenetic analyses showed two or possibly three cell lines. Sixty percent of the cell lines had a 45,X genotype and the rest had 46,XX with a marker ring chromosome. Diagnosis of a mosaic Turner syndrome and mild Kabuki-like phenotype was confirmed. Despite the rareness of this case, clinicians should be aware of the possibility of hyperinsulinemic hypoglycemia in patients with Turner syndrome to prevent further brain damage caused by hypoglycemic episodes and seizures. Although the mechanism leading to hyperinsulinism in this condition is still unknown, the present report discusses this rare presentation and gives an overview on the current literature regarding this case.
Lim, D B N; Gault, E J; Kubba, H; Morrissey, M S C; Wynne, D M; Donaldson, M D C
Girls with Turner syndrome are prone to cholesteatoma, a serious suppurative middle ear disease. We aimed to confirm its high prevalence in Turner syndrome, identify risk factors and suggest possible strategies for earlier detection. We reviewed 179 girls with Turner syndrome between 1989 and 2012 to identify cases of cholesteatoma. Seven girls (3.9%) had cholesteatoma (index girls) and each was compared with three age-matched girls without cholesteatoma (comparison girls). All the index girls had either the 45,X or 45,X/46X,i(Xq) karyotypes. Nine ears were initially affected, with three recurrences in two girls. Median age at first cholesteatoma presentation was 11.9 years (range: 7.5-15.2), with otorrhoea for three (range: one to seven) months in all 12 affected ears. Index girls had a significantly higher proportion of previous recurrent acute (p = 0.007) and chronic otitis media (p = 0.008), chronic perforation (p = 0.038) aural polyps (p Turner syndrome. Risk factors include 45,X and 46,XiXq karyotypes; a history of chronic otitis media, tympanic membrane retraction and persistent otorrhoea; and older age. Earlier recognition of ear disease is needed and otoscopy training for paediatricians caring for Turner syndrome patients may be beneficial. ©2014 Foundation Acta Paediatrica. Published by John Wiley & Sons Ltd.
The Integrated Science Instrument Module (ISIM) of the James Webb Space Telescope will be integrated and tested at the Environmental Test Facilities at Goddard Space Flight Center (GSFC). The cryogenic thermal vacuum testing of the ISIM will be the most difficult and problematic portion of the GSFC Integration and Test flow. The test is to validate the coupled interface of the science instruments and the ISIM structure and to sufficiently stress that interface while validating image quality of the science instruments. The instruments and the structure are not made from the same materials and have different CTE. Test objectives and verification rationale are currently being evaluated in Phase B of the project plan. The test program will encounter engineering challenges and limitations, which are derived by cost and technology many of which can be mitigated by facility upgrades, creative GSE, and thorough forethought. The cryogenic testing of the ISIM will involve a number of risks such as the implementation of unique metrology techniques, mechanical, electrical and optical simulators housed within the cryogenic vacuum environment. These potential risks are investigated and possible solutions are proposed.
Elster, Richard S.
Transcript of the words of Provost Richard S. Elster from the September 2001 Distinguished Alumni Award recognition of Secretary of the Air Force the Honorable James Roche and Secretary of the Army the Honorable Thomas White.
James Williamson d/b/a Golden Triangle Builders (the Company) is located in Pittsburgh, Pennsylvania. The settlement involves renovation activities conducted at property constructed prior to 1978, located in Pittsburgh, Pennsylvania.
... Eastern Virginia Rivers National Wildlife Refuge Complex. James River NWR lies in the Chesapeake Bay... specific purposes. We use these purposes as the foundation for developing and prioritizing the management...
Bressette, W. E.
A photographic flight was made over the James River on May 17, 1977. The data show that, in general, James River water has very high sunlight reflectance. In the Bailey Bay area this reflectance is drastically reduced. Also shown is a technique for normalizing off-axis variations in radiance film exposure from camera falloff and uneven sunlight conditions to the nadir value. After data normalization, a spectral analysis is performed that identifies Bailey Creek water in James River water. The spectral results when compared with laboratory spectrometer data indicate that reflectance from James River water is dominated by suspended matter, while the substance most likely responsible for reduced reflectance in Bailey Creek water is dissolved organic carbon.
This report summarizes findings from monitoring data that was collected over a two-year period from Bridge No. : 61390613004101 in the John James Audubon Project, which was formerly designated as Bridge #2 prior to : construction completion. The brid...
This project allowed the continuation of collecting monitoring data from Bridge #6139061300401 in the John James Audubon Project : for an additional two-year period. Bridge #6139061300401 was instrumented as part of an earlier project (LTRC Project N...
St. Clair, Ralf; Phipps, Alison
Professor James Gee addresses issues of linguistics, literacies and cultures. Gee emphasises the importance of Discourses, and argues that the future of literacy studies lies in the interrogation of new media and the globalisation of culture.
Ameerika laulja ja kitarristi James Wertsi ning saksofonikvarteti SaxEst kontserdituurist Eestis algusega 1. dets. Haljala rahvamajast. Kontserdituurist "Valge gospel" alates 11. dets. kuues Eestimaa kirikus (viimane kontsert 20. dets. Tallinna Linnahallis)
Elkins, James, 1955-
Kultuuriteaduste ja kunstide doktorikool korraldas 20.-22. sept. 2010 Eesti Kunstiakadeemia kunstikultuuri teaduskonnas ameerika kunstiteadlase James Elkensi seminari "Kunst, kunstiajalugu ja visuaalkultuuri uuringud. Uurimise ja kirjastamise probleeme ja kontseptsioone tänapäeval". James Elkensiga kunstiteadusest, sellest, kuidas visuaalkultuuri uurimine paneb küsimärgi alla senise kunstiajaloo ning kuidas on võimalik kirjutada ka Euroopa traditsioonist väljapoole jäävat kunstiajalugu, siinsest kunstiajaloo uurimisest ja kirjutamisest
José Manuel Estévez-Saá
Full Text Available James Stephens and James Joyce have been mentioned as referents for Caitriona Lally’s highly acclaimed debut novel, Eggshells (2015. The present contribution intends to study this new brilliant rendering of the city of Dublin through the eyes of allegedly ‘changeling’ Vivian, whose Joycean creative musings on language serve her to portray contemporary Dublin, as well as to imaginatively project portals to other worlds where she can feel more at ease.
Ganz, Jeremy C
James Hill (1703-1776) was a surgeon from Dumfries in Scotland who can lay claim to being the first to treat head injury patients in a thoroughly modern manner. He was highly regarded in his lifetime and for a century afterwards but has subsequently been forgotten. He had the lowest surgical mortality for trepanation of any surgeon of his time. He uniquely presented his results after a lengthy follow-up of many years. His management of cranial fractures was advanced. He did not use the trepan for fissures as others did and his conservative management of depressed fractures was based on biological rather than mechanical notions. He had an instinct for the management of raised intracranial pressure (ICP) unique in his day even though he could not have understood it in modern terms. He operated on head injuries only if there was a disturbance of consciousness. He was aware of the importance of cerebral pulsation and was alone in recording it in a majority of operated patients. He was ready to open the dura when necessary and did so six times. He introduced non-compressive bandaging over skull defects after surgery. In three cases he shaved off brain hernias which resulted in marked clinical improvement. He not only understood that an injury or disease on one side caused a deficit on the other side but uniquely encompassed this knowledge in his treatment planning. In view of these many insights and achievements, he deserves to be considered as the first surgeon whose neurosurgical management is recognisably close to modern practice.
Hartl, Daniel L
To honor James F. Crow on the occasion of his 95th birthday, GENETICS has commissioned a series of Perspectives and Reviews. For GENETICS to publish the honorifics is fitting, as from their birth Crow and GENETICS have been paired. Crow was scheduled to be born in January 1916, the same month that the first issue of GENETICS was scheduled to appear, and in the many years that Crow has made major contributions to the conceptual foundations of modern genetics, GENETICS has chronicled his and other major advances in the field. The commissioned Perspectives and Reviews summarize and celebrate Professor Crow's contributions as a research scientist, administrator, colleague, community supporter, international leader, teacher, and mentor. In science, Professor Crow was the international leader of his generation in the application of genetics to populations of organisms and in uncovering the role of genetics in health and disease. In education, he was a superb undergraduate teacher whose inspiration changed the career paths of many students. His teaching skills are legendary, his lectures urbane and witty, rigorous and clear. He was also an extraordinary mentor to numerous graduate students and postdoctoral fellows, many of whom went on to establish successful careers of their own. In public service, Professor Crow served in key administrative positions at the University of Wisconsin, participated as a member of numerous national and international committees, and served as president of both the Genetics Society of America and the American Society for Human Genetics. This Perspective examines Professor Crow as teacher and mentor through the eyes and experiences of one student who was enrolled in his genetics course as an undergraduate and who later studied with him as a graduate student.
Ludwig, George H.; McIlwain, Carl Edwin
James Alfred Van Allen, world-renowned space scientist, died 9 August 2006 at the age of ninety-one. He succumbed to heart failure after a ten-week period of declining health. Van Allen served for his entire sixty-seven-year professional career as an amazingly productive researcher, space science spokesman, inspired teacher, and valued colleague. The realization by him and his associates that charged particles are trapped by the Earth's magnetic field began a whole new field of research, magnetospheric physics. Following that initial discovery, he and his associates quickly extended their observations, first to the inner planets, and then to the rest of the planets and beyond. During his tenure at Iowa, he and his group flew instruments on more than sixty successful Earth satellites and planetary spacecraft, including the first missions to the planets Venus, Mars, Jupiter, Saturn, Uranus, and Neptune. Van Allen's lifetime publication list numbers more than 275, of which many are widely-cited, seminal papers. He was the sole author of more than 125 of those papers. Beyond the research laboratory, Van Allen worked energetically throughout his career in establishing space research as a new branch of human inquiry. He was among the most sought-after as a committee member and adviser, working at the highest levels of government, including the White House and Congress, and at all levels of the national and international research establishments. Many presentations in the non-scientific arena helped to bring the exciting discoveries and challenges of space research to the attention of the general public. James Van Allen (Van to his many friends and colleagues) was born on 7 September 1914 on a small farm near Mount Pleasant, Iowa, the second of four sons of Alfred Morris Van Allen and Alma Olney Van Allen. After high school in Mount Pleasant, he entered Iowa Wesleyan College, majoring in physics and graduating summa cum laude. While there, he was introduced to geophysics
Full Text Available Background: Previous studies have shown that only a minority of patients with Turner syndrome (TS have adequate medical care after transfer to adult care. Aim of this study: To assess the status of medical follow-up and quality of life (QoL in adult women diagnosed with TS and followed up until transfer. To compare the subjective and objective view of the medical care quality and initiate improvements based on patients’ experiences and current recommendations. Methods: 39 adult women with TS out of 64 patients contacted were seen for a clinical and laboratory check, cardiac ultrasound, standardized and structured questionnaires (SF-36v2 and Beck depression inventory. Results: 7/39 of the patients were not being followed medically at all. Only 2/39 consulted all the specialists recommended. Comorbidities were newly diagnosed in 27/39 patients; of these, 11 related to the cardiovascular system. Patients in our cohort scored as high as the mean reference population for SF-36v2 in both mental and physical compartments. Obese participants had lower scores in the physical function section, whereas higher education was related to higher physical QoL scores. Adult height slightly correlated positively with physical health. Conclusion: Medical follow-up was inadequate in our study cohort of adults with TS. Even though their medical follow-up was insufficient, these women felt adequately treated, leaving them vulnerable for premature illness. Initiatives in health autonomy and a structured transfer process as well as closer collaborations within specialities are urgently needed.
Full Text Available Abstract Background Cornelia de Lange syndrome (CdLS is a dominantly inherited disorder characterized by facial dysmorphism, growth and cognitive impairment, limb malformations and multiple organ involvement. Mutations in NIPBL gene account for about 60% of patients with CdLS. This gene encodes a key regulator of the Cohesin complex, which controls sister chromatid segregation during both mitosis and meiosis. Turner syndrome (TS results from the partial or complete absence of one of the X chromosomes, usually associated with congenital lymphedema, short stature, and gonadal dysgenesis. Case presentation Here we report a four-year-old female with CdLS due to a frameshift mutation in the NIPBL gene (c.1445_1448delGAGA, who also had a tissue-specific mosaic 45,X/46,XX karyotype. The patient showed a severe form of CdLS with craniofacial dysmorphism, pre- and post-natal growth delay, cardiovascular abnormalities, hirsutism and severe psychomotor retardation with behavioural problems. She also presented with minor clinical features consistent with TS, including peripheral lymphedema and webbed neck. The NIPBL mutation was present in the two tissues analysed from different embryonic origins (peripheral blood lymphocytes and oral mucosa epithelial cells. However, the percentage of cells with monosomy X was low and variable in tissues. These findings indicate that, ontogenically, the NIPBL mutation may have appeared before the mosaic monosomy X. Conclusions The coexistence in several patients of these two rare disorders raises the issue of whether there is indeed a cause-effect association. The detailed clinical descriptions indicate predominant CdLS phenotype, although additional TS manifestations may appear in adolescence.
Rosenfeld, R G; Attie, K M; Frane, J; Brasel, J A; Burstein, S; Cara, J F; Chernausek, S; Gotlin, R W; Kuntze, J; Lippe, B M; Mahoney, C P; Moore, W V; Saenger, P; Johanson, A J
To carry out a multicenter, prospective, randomized trial of human growth hormone (GH), alone or in combination with oxandrolone (OX), in patients with Turner's syndrome (TS). In an initial phase lasting 12 to 24 months, 70 girls with TS, verified by karyotype, were randomly assigned to one of four groups: (1) observation, (2) OX, (3) GH, or (4) GH plus OX. After completion of the first phase, group 3 subjects continued to receive GH only. All other subjects were treated with GH plus OX. Subjects were followed up until attainment of adult height and/or cessation of treatment. Data from this trial were compared with growth characteristics of 25 American historical subjects with TS (matched for age, height, parental target height, and karyotype) who never received either GH or androgens. Of the 70 subjects enrolled, 60 completed the clinical trial. The 17 subjects receiving GH alone all completed the trial and reached a height of 150.4+/-5.5 cm (mean +/- SD), 8.4+/-4.5 cm taller than their mean projected adult height at enrollment (95% confidence interval [CI]: 6.3 to 10.6 cm). The 43 subjects receiving GH plus OX attained a mean height of 152.1+/-5.9 cm, 10.3+/-4.7 cm taller than their mean projected adult height (95% CI: 8.9 to 11.7 cm). The historical control subjects had a mean adult height of 144.2+/-6.0 cm, precisely matching their original projected adult height of 144.2+/-6.1 cm. GH, either alone or in combination with OX, is capable of stimulating short-term growth and augmenting adult height in girls with TS. With early diagnosis and initiation of treatment, an adult height of more than 150 cm is a reasonable goal for most girls with TS.
Wu, Hua-Hong; Li, Hui
To investigate the karyotype, clinical manifestations and natural and therapeutic outcome of Turner syndrome (TS) in China. A total of 124 TS patients with definite diagnosis were included. Karyotype, main clinical signs, sexual development and therapeutic outcome were analyzed. TS karyotype was classified in 4 types: monosomy (32.7%), mosaic (15.9%), variant (23.9%) and mosaic with variant (27.4%). All patients showed short stature, with mean adult height<145cm. Sixteen percent of adolescent patients showed spontaneous breast development and 8% spontaneous menstruation. The rate of spontaneous sexual development was lowest in the monosomy karyotype. Common signs included cubitus valgus and wide breast space in about 50% of patients, epicanthus and skin nevus in 30% and webbed neck and shield chest in 10-20%. More than 10% of patients had associated heart, kidney or thyroid abnormalities. The rate of kidney malformation was highest in the monosomy karyotype. Growth hormone (GH) therapy can accelerate growth, with 7.6cm and 6.7cm increase in height in the first and second years of therapy respectively, slowing to 5.7cm and 4.1cm in the third and fourth years. Treated patients who reached nearly adult height were 10.2cm taller than untreated patients. Therapeutic effect correlated with GH therapy duration. TS patients showed a variety of karyotypes, related to the diversity of clinical manifestations and outcomes. Sexual development and adult height were poorer in monosomy karyotypes than in other types. Copyright © 2018 Elsevier Masson SAS. All rights reserved.
De Groote, Katya; Devos, Daniël; Van Herck, Koen; Demulier, Laurent; Buysse, Wesley; De Schepper, Jean; De Wolf, Daniël
Hypertension in Turner syndrome (TS) is a multifactorial, highly prevalent and significant problem that warrants timely diagnosis and rigorous treatment. The objective of this study was to investigate the association between abnormal aortic arch morphology and hypertension in adult TS patients. This was a single centre retrospective study in 74 adult TS patients (age 29.41 ± 8.91 years) who underwent a routine cardiac MRI. Patients were assigned to the hypertensive group (N = 31) if blood pressure exceeded 140/90 mmHg and/or if they were treated with antihypertensive medication. Aortic arch morphology was evaluated on MRI images and initially assigned as normal (N = 54) or abnormal (N = 20), based on the curve of the transverse arch and the distance between the left common carotid-left subclavian artery. We additionally used a new more objective method to describe aortic arch abnormality in TS by determination of the relative position of the highest point of the transverse arch (AoHP). Logistic regression analysis showed that hypertension is significantly and independently associated with age, BMI and abnormal arch morphology, with a larger effect size for the new AoHP method than for the classical method. TS patients with hypertension and abnormal arch morphology more often had dilatation of the ascending aorta. There is a significant association between abnormal arch morphology and hypertension in TS patients, independent of age and BMI, and not related to other structural heart disease. We suggest that aortic arch morphology should be included in the risk stratification for hypertension in TS and propose a new quantitative method to express aortic arch morphology.
Obara-Moszynska, Monika; Banaszak, Magdalena; Niedziela, Marek
The studies indicate the complex etiology of abnormal glucose metabolism in the Turner syndrome (TS). In the light of these carbohydrate disorders a therapy with recombinant growth hormone (rGH) in TS may be associated with complications, as growth hormone has a diabetogenic potential. Perinatal history is unknown since the patient was adopted at the age of 4 years. At 11 years old, due to typical phenotype, TS was diagnosed. The karyotype was 45,X/46,X,i(X)(q10). At the same age, basing on laboratory results, insulin dependent diabetes was diagnosed and the conventional insulin therapy was initiated. During the hospitalization, at the age of 12 years, the patient was 123.5cm (-4.4SD). At the same age rGH tre-atment was initiated, with the dose 0.045 mg/kg/d. After 3 months of therapy the height velocity rose to 8.2 cm/ year. At the age of 13 years, substitution with 17β-estradiol was started. After 3 years and 4 months the growth hormone treatment was stopped because of poor height velocity. The final height of the patient was 140 cm (-4,OSD). Two years after the end of rGH treatment the height was 141.2 cm. After termination of rGH treatment the need for daily insulin dose decreased from 50-60U/d to 38-44U/d. The decision of rGH therapy in TS with diabetes is certainly difficult. While starting the growth hormone treatment the clinician must keep in mind the risk of metabolic complications, but also the awareness that gives the patient a chance to improve the final height. In terms of the proper psycho-emotional development the reduction of growth deficit is very important. © Polish Society for Pediatric Endocrinology and Diabetology.
Yevstigneeva, O A; Andreeva, E N; Grigoryan, O R; Volevodz, N N; Melnichenko, G A; Dedov, I I
To investigate the impact of menopausal hormone therapy (MHT) on the expression of risk factors for cardiovascular events (CVEs) in patients with Shereshevsky-Turner syndrome (STS); to elaborate an algorithm for patient management using MHT. From 2010 to 2012, a total of 41 patients aged 14 to 35 years with STS were examined in the framework of a prospective observational study. 100 STS case histories in 2000 to 2009 were retrospectively analyzed. The indicators of the so-called cardiometabolic risk, such as body mass index (BMI), lipidogram readings, venous plasma glucose levels, and blood pressure, were estimated in relation to the type of MHT. In the prospective part of the investigation, an angioscan was used to estimate vessel characteristics (stiffness, wall tone, endothelial function (EF)), by using the examination data. 90% of the patients with STS were found to have risk factors for CVEs: atherogenic dyslipidemia (85%; 51% in the general female population of the same age), diastolic hypertension (36%; no more than 5% that is not typical for age-matched healthy general female population). In addition to increased arterial wall stiffness (AWS), obvious EF disorder is typical for STS patients. MHT was accompanied by a dose-dependent (estradiol, at least 2 mg) reduction in diastolic blood pressure by an average of 13% over 24 months, an increase in high density lipoprotein levels by more than 10% over 24 months and also contributedto a decrease in AWS and an improvement in EF. By favorably affecting the EF of vessels and reducing the severity of atherogenic dyslipidemia, MHT potentially enables a reduction in CV risk in patients with STS.
Larizza, Daniela; Albanesi, Michela; De Silvestri, Annalisa; Accordino, Giulia; Brazzelli, Valeria; Maffè, Gabriella Carnevale; Calcaterra, Valeria
Turmer syndrome (TS) patients show increased morbidity due to metabolic, autoimmune and cardiovascular disorders. A risk of neoplasia is also reported. Here, we review the prevalence of neoplasia in a cohort of Turner patients. We retrospectively evaluated 87 TS women. Follow-up included periodic ultrasound of the neck, abdominal and pelvic organs, dermatologic evaluation and fecal occult blood test. Karyotype was 45,X in 46 patients. During follow-up, 63 girls were treated with growth hormone, 65 with estro-progestin replacement therapy and 20 with L-thyroxine. Autoimmune diseases were present in 29 TS. A total of 17 neoplasms in 14 out of 87 patients were found. Six skin neoplasia, 3 central nervous system tumors, 3 gonadal neoplasia, 2 breast tumors, 1 hepatocarcinoma, 1 carcinoma of the pancreas and 1 follicular thyroid cancer were detected. Age at tumor diagnosis was higher in 45,X pts than in those with other karyotypes (p = 0.003). Adenomioma gallbladdder (AG) was detected in 15.3% of the patients, with a lower age in girls at diagnosis with an associated neoplasia in comparison with TS without tumors (p = 0.017). No correlation between genetic make up, treatment, associated autoimmune diseases and neoplastia was found. In our TS population an increased neoplasia prevalence was reported. A high prevalence of AG was also noted and it might be indicative of a predisposition to neoplasia. Further studies are needed to define the overall risk for neoplasia, and to determine the role of the loss of the X-chromosome and hormonal therapies. Copyright © 2016 Elsevier Masson SAS. All rights reserved.
Insulin resistance or the impairment of insulin capability to decrease blood glucose levels is seen in approximately 25% of girls with Turner syndrome (TS). Growth hormone (hGH), especially when administered at pharmacological doses, may additionally negatively affect the carbohydrate metabolism in TS girls, changing the response of peripheral tissues to insulin. The aim of the report was the assessment of glucose and insulin release and the prevalence of insulin resistance in physiological conditions (baseline and post-standard meal values), as well as after oral and IV glucose tolerance test in patients with Turner syndrome after a 6-month therapy with growth hormone, oxandrolone (Ox) and a combination of these two agents (hGH+Ox). The authors also evaluated the effect of these three therapeutic methods on carbohydrate metabolism, attempting to define the risk of glucose intolerance, type 2 diabetes and hyperinsulinemia and insulin resistance. The analysis of individual results in all the patients revealed that laboratory criteria for diagnosis type 2 diabetes (glycemia at 120 min OGTT >12.2 mmol/l) were met by one patient subjected to a combined therapy. Glucose intolerance (IGT) in OGTT, normally seen in 12.5% of untreated girls, was not intensified following a 6-month hGH or Ox therapy, but was more pronounced in patients on the combined treatment. A tendency was seen towards fasting hyperinsulinism (>25 uLI/ml) in patients on hGH and hGH+Ox, with more pronounced insulin resistance (IR15) in girls on the combined therapy. Combined treatment with growth hormone and oxandrolone results in a significant increase of insulin secretion and increased insulin resistance. In view of the effects of insulin resistance, one should analyze the advisability of combined treatment with growth hormone and oxandrolone in girls with Turner syndrome.
Wagner, P; Sonek, J; Hoopmann, M; Abele, H; Kagan, K O
To examine the performance of first-trimester ultrasound screening for trisomies 18 and 13, triploidy and Turner syndrome based on fetal nuchal translucency thickness (NT), additional fetal ultrasound markers including anatomy of the nasal bone (NB), blood flow across the tricuspid valve (TV) and through the ductus venosus (DV) and a detailed fetal anomaly scan at 11-13 weeks' gestation. This was a retrospective case-matched study involving pregnant women at 11-13 weeks' gestation. The study population consisted of fetuses with trisomy 18, trisomy 13, triploidy or Turner syndrome. For each fetus with an abnormal karyotype, 50 randomly selected euploid fetuses were added to the study population. In all cases, the crown-rump length and NT were measured. In addition NB, TV flow and DV flow were examined. The summed risk for trisomies 21, 18 and 13 was computed based on: first, maternal age (MA); second, MA and fetal NT; third, MA, NT and one of the markers NB, TV flow or DV flow; fourth, MA, NT and all these markers combined; fifth, MA, NT and fetal anomalies; and, finally, MA, NT, all markers and fetal anomalies. The study population consisted of 4550 euploid and 91 aneuploid fetuses. Median NT was 1.8 mm in euploid fetuses and 4.8, 6.8, 1.8 and 10.0 mm in fetuses with trisomy 18, trisomy 13, triploidy and Turner syndrome, respectively. The NB, TV flow and DV flow were abnormal in 48 (1.1%), 34 (0.7%) and 99 (2.2%) euploid fetuses, respectively, and in 42 (46.2%), 31 (34.1%) and 62 (68.1%) aneuploid fetuses, respectively. At least one defect was found in 60 (1.3%) euploid and in 76 (83.5%) aneuploid fetuses. For a false-positive rate of 3%, the detection rate for screening based on MA and fetal NT was 75.8%. It increased to 84.6-86.8% when including one of the additional ultrasound markers and it was 90.1% when all three markers were included. When screening was based on MA, fetal NT and a detailed anomaly scan, the detection rate was 94.5% and increased to 95
James Chadwick (1981-1974) was a key figure in the field of nuclear science. Through his studies, he researched the disintegration of atoms by bombarding alpha particles and proved the existence of neutrons. For this discovery, he was awarded the Nobel Prize for physics in 1935. (Author)
Smith, Damian J.
Full Text Available This article examines the relationship between the Papacy and Aragon-Catalonia during the period 1213-1216. After the death of King Peter H (12/9/1213, the Crown of Aragon, traditionally a close ally of Rome, was plunged into a grave crisis. A study of how the Pope and his legate. Cardinal Peter of Benevento, react to this crisis, and protect the new King, James I, tells us much about the actual extent and objectives of pontifical power, as well as adding much information on the early years of the great Catalan ruler. It is evident that the Pope, using traditional justifications, stretched his intervention in the temporal dominion to an unprecedented extent, but ultimately the Pope was limited both in his objectives and by the actual mechanisms of power.[fr] Cet article examine le rapport entre la Papauté et Aragon-Catalogne pendant la période 1213-1216. Après la mort du Roi Pierre II (12/9/1213, la Couronne, généralement une alliée étroite de Rome, était face à une crise très sérieuse. Comment ont réagi le Pape, Innocent III, et son envoyé, le Cardinal Pierre, à cette crise, et comment ils ont protégé le roi nouveau, Jacques I ? La réponse révèle beaucoup au sujet de la étendue réelle et des buts du pouvoir pontifical, et ajoute encore du renseignement au sujet des années formateux du grand Roi Jacques I. De toute évidence. Innocent III, avec les arguments normaux, a augmenté sa intervention à l'intérieur du domaine temporal à une mesure sans précédent, mais, à la fin, ses buts et les mécanismes de pouvoir ont limité sa influence.
Rosenfeld, R G; Frane, J; Attie, K M; Brasel, J A; Burstein, S; Cara, J F; Chernausek, S; Gotlin, R W; Kuntze, J; Lippe, B M
Seventy girls with Turner syndrome, verified by karyotype, were randomly assigned to observation or treatment with human growth hormone (hGH), oxandrolone, or a combination of hGH plus oxandrolone for a period of 12 to 24 months, to assess the effect of treatment on growth velocity and adult height. Subsequently, all subjects received either hGH alone or hGH plus oxandrolone. Data are presented for 62 subjects treated for a period of 3 to 6 years. When compared with the anticipated growth rate in untreated patients, the growth rate after treatment with hGH, both alone and in combination with oxandrolone, showed a sustained increase for at least 6 years. Treatment is continuing in over half of the subjects; at present, 14 (82%) of 17 girls receiving hGH alone and 41 (91%) of 45 girls receiving combination therapy exceeded their expected adult heights. Thirty girls have completed treatment; mean height for these 30 patients is 151.9 cm, compared with their mean original projected adult height of 143.8 cm. We conclude that therapy with hGH, alone and in combination with oxandrolone, can result in a sustained increase in growth rate and a significant increase in adult height for most prepubertal girls with Turner syndrome.
Wilson, D M; Frane, J W; Sherman, B; Johanson, A J; Hintz, R L; Rosenfeld, R G
To evaluate the effects of growth-promoting therapy on carbohydrate metabolism in girls with Turner syndrome, we determined glucose and insulin concentrations during oral glucose tolerance tests (OGTTs) at baseline and after 5 days, 2 months, and 12 months of treatment with growth hormone (GH), oxandrolone, or a combination of GH and oxandrolone, or after the same intervals with no therapy. Before therapy, subjects had a significantly greater glucose response during OGTT than published normal control values. There were no significant changes in mean fasting glucose, cholesterol, or triglyceride concentrations in any of the treatment groups. The integrated glucose concentrations rose significantly over baseline values in the oxandrolone group at 2 and 12 months and in the combination group at 5 days. There were significant increases in the mean integrated insulin concentrations at 2 and 12 months for the group receiving oxandrolone alone and at all three times for the group receiving combination therapy. Thus oxandrolone, alone or in combination with GH, had significant effects on carbohydrate metabolism in subjects with Turner syndrome, whereas GH alone did not.
Brambila-Tapia, Aniel Jessica Leticia; Rivera, Horacio; García-Castillo, Herbert; Domínguez-Quezada, Maria Guadalupe; Dávalos-Rodríguez, Ingrid Patricia
To describe a patient with infertility and phenotypic combination of Turner and triple-X syndrome related to mos 47,XXX/45X/46,XX karyotype. Case report. División de Genética, Centro de Investigación Biomédica de Occidente and Hospital de Ginecología y Obstetricia, CMNO, Instituto Mexicano del Seguro Social. The 24-year-old patient presented a phenotypic combination of Turner syndrome and X polysomy. She showed wide and short neck, low posterior hairline, cubitus valgus, bilateral shortening of the fourth and fifth metacarpals, multiple nevi, and müllerian anomalies but had spontaneous pubarche, thelarche, and menarche. Laboratory evaluations, imaging studies, ovarian biopsy, G-banding karyotype, and in situ fluorescence hybridization. Clinical and laboratory findings. A karyotype: mos 47,XXX/45X/46,XX was found in the cytogenetic studies, a bicornuate uterus in the ultrasonographic scan, and a normal ovarian profile in the laboratory tests. The infertility in the present case can be related to either bicornuate uterus or subclinical abortions due to aneuploid ova. Cytogenetic assessment provides important information regarding infertile patients with uterine factors and short stature.
Marcela Carolina López
Full Text Available En este trabajo se exponen los fundamentos teóricos que permiten considerar al Síndrome de Turner como un “modelo genético sensible” en el cual analizar asociaciones entre caracteres psicológicos y factores genéticos y ambientales. La investigación en esta línea permitiría dilucidar mecanismos de riesgo ambiental y comprender el grado de “vulnerabilidad” que presentan las mujeres con el síndrome. El Síndrome de Turner es un trastorno genético, no heredable, que se caracteriza por la deleción total o parcial del cromosoma X en el sexo femenino. El estudio de la disfunción social que presentan las mujeres con este síndrome, es decir, de la capacidad para relacionarse con el entorno y la calidad de los vínculos tiene importantes implicaciones en la comprensión de la forma en que actúa el ambiente sobre el desarrollo psicológico, y de cómo a su vez éste se ve afectado por factores genéticos que actúan en interacción.
Yuan, Qun; Zhu, Dan; Chen, Yueyang; Guo, Zhenyan; Zuo, Chao; Gao, Zhishan
We present the optical design of a Czerny-Turner imaging spectrometer for which astigmatism is corrected using off-the-shelf optics resulting in spectral resolution of 0.1 nm. The classic Czerny-Turner imaging spectrometer, consisting of a plane grating, two spherical mirrors, and a sensor with 10-μm pixels, was used as the benchmark. We comparatively assessed three configurations of the spectrometer that corrected astigmatism with divergent illumination of the grating, by adding a cylindrical lens, or by adding a cylindrical mirror. When configured with the added cylindrical lens, the imaging spectrometer with a point field of view (FOV) and a linear sensor achieved diffraction-limited performance over a broadband width of 400 nm centered at 800 nm, while the maximum allowable bandwidth was only 200 nm for the other two configurations. When configured with the added cylindrical mirror, the imaging spectrometer with a one-dimensional field of view (1D FOV) and an area sensor showed its superiority on imaging quality, spectral nonlinearity, as well as keystone over 100 nm bandwidth and 10 mm spatial extent along the entrance slit.
Full Text Available Turner's syndrome (caused by monosomy of chromosome X is one of the most common chromosomal abnormalities in females. Although 3% of all pregnancies start with XO embryos, 99% of these pregnancies terminate spontaneously during the first trimester. The common genetic explanation for the early lethality of monosomy X embryos, as well as the phenotype of surviving individuals is haploinsufficiency of pseudoautosomal genes on the X chromosome. Another possible mechanism is null expression of imprinted genes on the X chromosome due to the loss of the expressed allele. In contrast to humans, XO mice are viable, and fertile. Thus, neither cells from patients nor mouse models can be used in order to study the cause of early lethality in XO embryos. Human embryonic stem cells (HESCs can differentiate in culture into cells from the three embryonic germ layers as well as into extraembryonic cells. These cells have been shown to have great value in modeling human developmental genetic disorders. In order to study the reasons for the early lethality of 45,XO embryos we have isolated HESCs that have spontaneously lost one of their sex chromosomes. To examine the possibility that imprinted genes on the X chromosome play a role in the phenotype of XO embryos, we have identified genes that were no longer expressed in the mutant cells. None of these genes showed a monoallelic expression in XX cells, implying that imprinting is not playing a major role in the phenotype of XO embryos. To suggest an explanation for the embryonic lethality caused by monosomy X, we have differentiated the XO HESCs in vitro an in vivo. DNA microarray analysis of the differentiated cells enabled us to compare the expression of tissue specific genes in XO and XX cells. The tissue that showed the most significant differences between the clones was the placenta. Many placental genes are expressed at much higher levels in XX cells in compare to XO cells. Thus, we suggest that abnormal
Full Text Available BackgroundWhether children with chromosomal disorders of growth and puberty are affected by secular trends (STs as observed in the general population remains unanswered, but this question has relevance for expectations of spontaneous development and treatment responses.ObjectivesThe aim of the study was to evaluate STs in birth parameters, growth, and pubertal development in girls with Turner syndrome (TS.Study designRetrospective analysis of KIGS data (Pfizer International Growth Database. We included all TS patients who entered KIGS between 1987 and 2012 and were born from 1975 to 2004, who were prepubertal and growth treatment naïve at first entry (total number: 7,219. Pretreatment height and ages at the start of treatment were compared across 5-year birth year groups, with subgroup analyses stratified by induced or spontaneous puberty start.ResultsWe observed significant STs across the birth year groups for birth weight [+0.18 SD score (SDS, p < 0.001], pretreatment height at mean age 8 years (+0.73 SDS, p < 0.001, height at the start of growth hormone (GH therapy (+0.38 SDS, p < 0.001 and start of puberty (+0.42 SDS, p < 0.001. Spontaneous puberty onset increased from 15 to 30% (p < 0.001. Mean age at the start of GH treatment decreased from 10.8 to 7.4 years (−3.4 years; p < 0.001, and substantial declines were seen in ages at onset of spontaneous and induced puberty (−2.0 years; p < 0.001 and menarche (−2.1 years; p < 0.001.ConclusionEnvironmental changes leading to increased height and earlier and also more common, spontaneous puberty are applicable in TS as in normal girls. In addition, greater awareness for TS may underlie trends to earlier start of GH therapy and induction of puberty at a more physiological age.
Lora Jean Brake
Full Text Available At first glance the twenty-first century arena of biotechnology and bioethics seems worlds away from the practical concerns of the first century outlook of the New Testament book of James. A closer look, however, reveals that the issues that James addresses have applications to challenges in bioethics. This article will give an overview of James and examine James’ teaching on wealth, poverty, and generosity and its import for the issue of global stewardship in bioethics. Stewardship concerns both a Christian’s care and management of time, talents, and treasures. Faithful use of the resources God has given demonstrates the fruitful faith that James writes of in his epistle. The idea of global stewardship, though “stewardship” is grounded in a distinctly Christian ethic, reflects an emerging discussion in bioethics regarding the need to address the inequities present between the money and time spent on biotechnology in some of the world in proportion to the money spent on meeting the basic healthcare needs of the poor of the entire world. This New Testament epistle gives clear indications of how the Christian is to view wealth and how the Christian is to respond to poverty. James, though a comparatively small book, sends a crucial message across the years that should greatly impact how Christians view stewardship in terms of global healthcare needs.
Gurney, David H
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Gravholt, Claus Højbjerg; Leth-Larsen, Rikke; Lauridsen, Anna Lis
function. In the present study we examined whether GH or hormone replacement therapy (HRT) in Turner syndrome (TS) influence the serum concentrations of MBL and two other proteins partaking in the innate immune defence, surfactant protein D (SP-D) and vitamin D binding protein (DBP). DESIGN: Study 1...
Full Text Available Introduction. Turner syndrome presents with one of the most frequent chromosomal aberrations in female, typically presented with growth retardation, ovarian insufficiency, facial dysmorphism, and numerous other somatic stigmata. Gigantism is an extremely rare condition resulting from an excessive growth hormone (GH secretion that occurs during childhood before the fusion of epiphyseal growth plates. The major clinical feature of gigantism is growth acceleration, although these patients also suffer from hypogonadism and soft tissue hypertrophy. Case report. We presented a girl with mosaic Turner syndrome, delayed puberty and normal linear growth for the sex and age, due to the simultaneous GH hypersecretion by pituitary tumor. In the presented case all the typical phenotypic stigmata related to Turner syndrome were missing. Due to excessive pituitary GH secretion during the period while the epiphyseal growth plates of the long bones are still open, characteristic stagnation in longitudinal growth has not been demonstrated. The patient presented with delayed puberty and primary amenorrhea along with a sudden appearance of clinical signs of hypersomatotropinism, which were the reasons for seeking medical help at the age of 16. Conclusion. Physical examination of children presenting with delayed puberty but without growth arrest must include an overall hormonal and genetic testing even in the cases when typical clinical presentations of genetic disorder are absent. To the best of our knowledge, this is the first reported case of simultaneous presence of Turner syndrome and gigantism in the literature.