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Sample records for hormosira banksii turner

  1. Historical demography and colonization pathways of the widespread intertidal seaweed Hormosira banksii (Phaeophyceae) in southeastern Australia.

    Science.gov (United States)

    Mueller, Rebecca; Wright, Jeffrey T; Bolch, Christopher J S

    2018-02-01

    The palaeoceanography of southern Australia has been characterized by fluctuating sea levels during glacial periods, changing temperature regimes and modified boundary currents. Previous studies on genetic structuring of species in southeastern Australia have focused mainly on the differentiation of eastern and western populations while the potential role of Bass Strait as a region of overlap for three biogeographic provinces (Peronia, Maugea, and Flindersia) has been largely ignored. This study aimed to explore the likely roles of historic and contemporary factors in determining divergence patterns in the habitat-forming intertidal seaweed Hormosira banksii in southeastern Australia with a special focus on postglacial dispersal into Bass Strait. We examined the genetic diversity of 475 Hormosira specimens collected from 19 sites around southern Australia using DNA sequence analysis of cytochrome oxidase 1. Three major haplotype groups were identified (western, centre and eastern) corresponding with the three existing biogeographical provinces in this region. Historic break points appeared to be retained and reinforced by modern day dispersal barriers. Phylogeographic grouping of Hormosira reflected a combination of historic and contemporary oceanography. As western and eastern group haplotypes were largely absent within Bass Strait, re-colonization after the last glacial maximum appeared to have originated from refuges within or near present day Bass Strait. Patterns of genetic structure for Hormosira are consistent with other marine species in this region and highlight the importance of biogeographical barriers in contributing to modern genetic structure. © 2017 Phycological Society of America.

  2. The effects of secondary-treated sewage effluent and reduced salinity on specific events in the early life stages of Hormosira banksii (Phaeophyceae)

    National Research Council Canada - National Science Library

    Kevekordes, Karen

    2000-01-01

    The early life stages of Hormosira banksii can be viewed as a series of distinct developmental events such as gamete release, fertilization, germination, adhesion, cell division, apical hair formation and growth...

  3. Turner

    NARCIS (Netherlands)

    Wilton, A.

    2006-01-01

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

  4. Turner Syndrome

    Science.gov (United States)

    Turner syndrome is a genetic disorder that affects a girl's development. The cause is a missing or incomplete X ... work properly. Other physical features typical of Turner syndrome are Short, "webbed" neck with folds of skin ...

  5. Microscopic and infrared spectroscopic comparison of the underwater adhesives produced by germlings of the brown seaweed species Durvillaea antarctica and Hormosira banksii

    National Research Council Canada - National Science Library

    Dimartino, Simone; Savory, David M; Fraser-Miller, Sara J; Gordon, Keith C; McQuillan, A James

    2016-01-01

    .... In this work, we investigated the adhesive secretions produced by germlings of two large seaweed species from the South Pacific, Durvillaea antarctica, also named 'the strongest kelp in the word...

  6. Turner Syndrome

    Science.gov (United States)

    ... 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 ...

  7. Turner Syndrome

    Directory of Open Access Journals (Sweden)

    Ramachandran Sudarshan

    2012-08-01

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

  8. Turner/Down mosaicism

    African Journals Online (AJOL)

    mosaicism and Crohn's disease. Acca Paediarr Scant! 1988; 77: 922-924. 3. Gauad AR. Congenital dislocation of the knees in a child with Down-mos'!ic. Tumersyndrome.JMedGener 1981; 18: 148-151. 4. MacFaul R, Turner T, Mason MK. Down'slTurner's mos,ucism: double aneuploidy as a rare cause of missed prenatal ...

  9. Touched by Turner

    Science.gov (United States)

    Adams, Jeff

    2015-01-01

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

  10. Learning about Turner Syndrome

    Science.gov (United States)

    ... reading skills. Some girls, however, have problems with math, memory skills and fine-finger movements. Additional symptoms ... aappublications.org] An article from Pediatrics , the official journal of the American Academy of Pediatrics Turner Syndrome [ ...

  11. Turner/Down mosaicism

    African Journals Online (AJOL)

    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 ...

  12. Turner Syndrome (For Parents)

    Science.gov (United States)

    ... or self-esteem and some also might have ADHD . Despite these physical differences and other problems, with the right medical care, early intervention, and ongoing support, a girl with Turner syndrome ...

  13. Entrevista a Edith Turner

    Directory of Open Access Journals (Sweden)

    George Mentore

    2009-09-01

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

  14. Turner syndrome and anesthesia.

    Science.gov (United States)

    Maranhão, Marcius Vinícius M

    2008-01-01

    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.

  15. Parsonage-turner syndrome

    Directory of Open Access Journals (Sweden)

    Cristina Schmitt Cavalheiro

    2016-07-01

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

  16. Autoimmunity and Turner's syndrome.

    Science.gov (United States)

    Lleo, Ana; Moroni, Luca; Caliari, Lisa; Invernizzi, Pietro

    2012-05-01

    Turner Syndrome (TS) is a common genetic disorder, affecting female individuals, resulting from the partial or complete absence of one sex chromosome, and occurring in approximately 50 per 100,000 liveborn girls. TS is associated with reduced adult height and with gonadal dysgenesis, leading to insufficient circulating levels of female sex steroids and to infertility. Morbidity and mortality are increased in TS but average intellectual performance is within the normal range. TS is closely associated to the presence of autoantibodies and autoimmune diseases (AID), especially autoimmune thyroiditis and inflammatory bowel disease. Despite the fact that the strong association between TS and AID is well known and has been widely studied, the underlying immunopathogenic mechanism remains partially unexplained. Recent studies have displayed how TS patients do not show an excess of immunogenic risk markers. This is evocative for a higher responsibility of X-chromosome abnormalities in the development of AID, and particularly of X-genes involved in immune response. For instance, the long arm of the X chromosome hosts a MHC-locus, so the loss of that region may lead to a deficiency in immune regulation. Currently no firm guidelines for diagnosis exist. In conclusion, TS is a condition associated with a number of autoimmune manifestations. Individuals with TS need life-long medical attention. As a consequence of these findings, early diagnosis and regular screening for potential associated autoimmune conditions are essential in the medical follow-up of TS patients. Copyright © 2011 Elsevier B.V. All rights reserved.

  17. Turner Syndrome and Its Variants

    OpenAIRE

    Semra Gürsoy; Derya Erçal

    2017-01-01

    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 abor...

  18. Genomic imprinting and Turner syndrome.

    Science.gov (United States)

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

    2012-05-01

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

  19. Turner Syndrome: Phenotypic Variability of Chromosomal Polymorphism

    Directory of Open Access Journals (Sweden)

    M.O. Ryznychuk

    2015-07-01

    Full Text Available Turner syndrome was firstly described by N. Shereshevskyi in 1925, and then by H. Turner in 1938. In 1959, Ch. Ford found that in patients with this syndrome one X chromosome is absent. The cause of this is that in the process of fertilization, one of two X chromosomes of maternal egg or paternal sperm is lost. Recent studies have suggested that two-thirds of patients with Turner syndrome do not have one X chromosome. Patients are almost exclusively women. Their karyotype is 45, X. Among newborn girls, Turner syndrome occurs with a frequency of 1 : 3,000, and among girls suffering from mental retardation — 1 : 1,500. The decisive arguments in the diagnosis of Turner syndrome are typical clinical features; data of study of sex chromatin and karyotype; possible prenatal diagnosis of fetal pathology. Patients with Turner syndrome require hormone therapy (by growth hormone, sex hormones, correction of congenital malformations and aesthetic defects. This article summarizes data of features of phenotypic manifestations of Turner syndrome, depending on the variant of chromosomal abnormalities.

  20. Mosaic Turner syndrome and hyperinsulinaemic hypoglycaemia

    DEFF Research Database (Denmark)

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

    2006-01-01

    BACKGROUND: A common and well recognised feature of Turner's syndrome (partial or total monosomy X) is impaired glucose tolerance or type 2 diabetes mellitus. A small percentage of patients with Turner's syndrome have a complex mosaic karyotype with atypical clinical features and mental retardation...... 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...

  1. Turner Syndrome and Its Variants

    Directory of Open Access Journals (Sweden)

    Semra Gürsoy

    2017-12-01

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

  2. What Are Common Treatments for Turner Syndrome?

    Science.gov (United States)

    ... 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 ...

  3. Autoimmune diseases in women with Turner's syndrome

    DEFF Research Database (Denmark)

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

    2010-01-01

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

  4. Fertility preservation in Turner syndrome.

    Science.gov (United States)

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

    2016-01-01

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

  5. Border mythology: Turner and modernity

    Directory of Open Access Journals (Sweden)

    Jorge E. Brenna B.

    2011-07-01

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

  6. The American Turners: their past and present

    Directory of Open Access Journals (Sweden)

    Annette R. Hofmann

    2015-06-01

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

  7. The Schmidt-Czerny-Turner spectrograph

    Science.gov (United States)

    McClure, Jason P.

    2014-09-01

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

  8. Sex hormone replacement in Turner syndrome

    DEFF Research Database (Denmark)

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

    2012-01-01

    osteoporosis seen in Turner syndrome. But sex hormone insufficiency is also involved in the increased cardiovascular risk, state of physical fitness, insulin resistance, body composition, and may play a role in the increased incidence of autoimmunity. Severe morbidity and mortality affects females with Turner...... syndrome. Recent research emphasizes the need for proper sex hormone replacement therapy (HRT) during the entire lifespan of females with TS and new hypotheses concerning estrogen receptors, genetics and the timing of HRT offers valuable new information. In this review, we will discuss the effects...

  9. Motor performance in girls with Turner's syndrome

    NARCIS (Netherlands)

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

    2000-01-01

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

  10. Increased prevalence of autoimmunity in Turner syndrome

    DEFF Research Database (Denmark)

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

    2009-01-01

    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...

  11. Lichen sclerosus en het syndroom van Turner

    NARCIS (Netherlands)

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

    2010-01-01

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

  12. Turner-like Syndrome: a case report

    Directory of Open Access Journals (Sweden)

    M.R. Velletri

    2013-10-01

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

  13. Physical fitness of schoolgirls with Turner syndrome

    NARCIS (Netherlands)

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

    2013-01-01

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

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

    OpenAIRE

    Marcius Vinícius M. Maranhão

    2008-01-01

    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...

  15. Menimbang Gagasan Bryan S. Turner tentang Islam

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    Imam Turmudi

    2015-09-01

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

  16. Síndrome de Turner e anestesia

    OpenAIRE

    Maranhão, Marcius Vinícius M.

    2008-01-01

    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...

  17. Pathology of the Cardiovascular System in Children with Turner Syndrome

    Directory of Open Access Journals (Sweden)

    A.Ye. Abaturov

    2015-03-01

    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.

  18. Ullrich-Turner syndrome and neurofibromatosis-1

    Energy Technology Data Exchange (ETDEWEB)

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

    1996-12-30

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

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

    Science.gov (United States)

    Ravel, C; Siffroi, J-P

    2009-06-01

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

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

    Energy Technology Data Exchange (ETDEWEB)

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

    1995-12-01

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

  1. Detour behaviour in attack-trained dogs: left-turners perform better than right-turners.

    Science.gov (United States)

    Siniscalchi, Marcello; Pergola, Gianluca; Quaranta, Angelo

    2013-01-01

    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.

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

    Directory of Open Access Journals (Sweden)

    Marcius Vinícius M. Maranhão

    2008-02-01

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

  3. Turner syndrome: From birth to adulthood.

    Science.gov (United States)

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

    2015-12-01

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

  4. A mother with variant Turner syndrome and two daughters with ...

    Indian Academy of Sciences (India)

    amenorrhoea, decreased fertility and anomalies of cardiac, renal and endocrine origin. Mosaic Turner syndrome is asso- ciated with infertility, secondary amenorrhoea and recurrent abortions (Kammoun et al. 2008). Spontaneous conception among Turner syndrome patients is extremely rare with cases reported mainly in ...

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

    LENUS (Irish Health Repository)

    Mullaney, Ronan

    2009-01-01

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

  6. Mechanisms of Lethal Cerebrovascular Accidents in Turner Syndrome.

    Science.gov (United States)

    Byard, Roger W

    2016-05-01

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

  7. Growth curves for girls with Turner syndrome.

    Science.gov (United States)

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

    2014-01-01

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

  8. Growth Curves for Girls with Turner Syndrome

    Directory of Open Access Journals (Sweden)

    Fabio Bertapelli

    2014-01-01

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

  9. [Human growth hormone and Turner syndrome].

    Science.gov (United States)

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

    2017-02-01

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

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

    Science.gov (United States)

    Trovó de Marqui, Alessandra Bernadete

    2015-01-01

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

  11. [Fertility on women with Turner syndrome].

    Science.gov (United States)

    Chakhtoura, Zeina; Touraine, Philippe

    2013-11-01

    Spontaneous pregnancies occur in 1.8 to 7.6% among women with Turner syndrome. A genetic counseling is required before conception because only 30 to 40% of these pregnancies lead to the birth of a healthy child. A check-up has to be done before pregnancy, and if authorized, it will be tightly followed-up. Pregnancy is contraindicated if cardiac or aortic malformations exist, except for bicuspid aortic valve. Teams advice single embryo transfer. Rates of pregnancies of 45 to 60% after oocyte donation, but 40 to 60% of spontaneous abortions are noted, due to uterine factors. A study is trying to define patients who could postulate to cryopreservation of ovarian tissue. Copyright © 2013. Published by Elsevier Masson SAS.

  12. [X isochromosomes: delayed diagnosis of Turner's syndrome].

    Science.gov (United States)

    Cuesta Hernández, M; Rueda Valencia, M E; Pérez Rodríguez, O; López de Lara, D

    2015-01-01

    Turner syndrome is diagnosed by the combination of certain phenotypic characteristics with the absence of one of the X chromosome. This absence may be total or partial, as occurs in isochromosomes Xq. The phenotypic consequences of these depend on two factors: the characteristics of the lost genes and the percentage of cells 45, X in mosaicisms. The clinical features also change with the cytogenetic pattern. Short stature is the most common phenotypic manifestation, as it is due to the haploinsufficiency of the SHOX gene on the short arm of X chromosomes. Thus, when there is isochromosomes on the long arms, short stature is always present. However, the typical features of this syndrome could be absent, and the diagnosis can be delayed. This occurred in our patients, who will not be able to obtain optimum benefits with growth hormone treatment. Copyright © 2014 Asociación Española de Pediatría. Published by Elsevier Espana. All rights reserved.

  13. Chiari I malformation associated with turner syndrome

    Directory of Open Access Journals (Sweden)

    Kamble Jayaprakash Harsha

    2017-01-01

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

  14. Terence S. Turner (1935-2015

    Directory of Open Access Journals (Sweden)

    Villarías-Robles, Juan J. R.

    2016-06-01

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

  15. Obstetric outcomes in women with Turner karyotype.

    Science.gov (United States)

    Hagman, A; Källén, K; Barrenäs, M-L; Landin-Wilhelmsen, K; Hanson, C; Bryman, I; Wennerholm, U-B

    2011-11-01

    Women with Turner syndrome (TS) have high risk of cardiovascular complications and hypertensive disorders. Few studies have analyzed obstetric outcome in women with TS. This study compared obstetric outcome in women with TS karyotype with women in the general population. The Swedish Genetic Turner Register was cross-linked with the Swedish Medical Birth Register between 1973 and 2007. Obstetric outcome in singletons was compared with a reference group of 56,000 women from the general population. Obstetric outcome in twins was described separately. A total of 202 singletons and three sets of twins were born to 115 women with a TS karyotype that was unknown in 52% at time of pregnancy. At first delivery, TS women of singletons were older than controls (median 30 vs. 26 yr, P < 0.0001). Preeclampsia occurred in 6.3 vs. 3.0% (P = 0.07). Aortic dissection occurred in one woman. Compared with the general population, the gestational age was shorter in children born by TS women (-6.4 d, P = 0.0067), and median birth weight was lower (-208 g, P = 0.0012), but sd scores for weight and length at birth were similar. The cesarean section rate was 35.6% in TS women and 11.8% in controls (P < 0.0001). There was no difference in birth defects in children of TS women as compared with controls. Obstetric outcomes in women with a TS karyotype were mostly favorable. Singletons of TS women had shorter gestational age, but similar size at birth, adjusted for gestational age and sex. Birth defects did not differ between TS and controls.

  16. Communication problems in Turner syndrome: a sample survey.

    Science.gov (United States)

    Van Borsel, J; Dhooge, I; Verhoye, K; Derde, K; Curfs, L

    1999-01-01

    Turner syndrome is a condition first recognized in 1938 with an incidence estimated at 1/2500 female births. It is known to result from a missing X chromosome and has as its main features a short stature, ovarian dysgenesis, neck webbing, congenital peripheral lymphedema, coarctation of the aorta, cubitus valgus, dysplastic nails, and pigmented nevi. In addition, psychosocial difficulties including communication disorders may occur. While the physical characteristics of Turner syndrome have been well documented, information on the communication problems in Turner syndrome is scarce. This study reports the results of a sample survey in 128 girls with Turner syndrome ranging in age from 2.4 to 58.8 years. Results are presented on the occurrence and nature of speech and language problems (voice disorders, articulation problems, stuttering, and delayed language development), on the presence of learning disabilities, and on educational history.

  17. How Do Health Care Providers Diagnose Turner Syndrome?

    Science.gov (United States)

    ... care providers diagnose Turner syndrome? Skip sharing on social media links Share this: Page Content Health care providers use a combination of physical symptoms and the results of a genetic blood ...

  18. Sublime dinâmico e pintura: Turner e Pollock

    Directory of Open Access Journals (Sweden)

    Jair Barboza

    2012-08-01

    Full Text Available http://dx.doi.org/10.5007/1677-2954.2012v11nesp1p105Este texto tem por objetivo mostrar como a concepção filosófica do sublime em Kant e Schopenhauer pode nos ajudar a ver algumas obras pictóricas de Turner e Pollock. Nesse sentido temos um sublime figurativo (Turner e um sublime não figurativo (Pollock na pintura.

  19. Morbidity and mortality after childbirth in women with Turner karyotype.

    Science.gov (United States)

    Hagman, Anna; Källén, Karin; Bryman, Inger; Landin-Wilhelmsen, Kerstin; Barrenäs, Marie-Louise; Wennerholm, Ulla-Britt

    2013-07-01

    Do women with Turner karyotype have increased mortality and morbidity in the years after childbirth? No mortality occurred during pregnancy and follow-up in women with Turner karyotype, but a higher rate of circulatory and endocrine diseases and a high risk of aortic aneurysm were confirmed. Pregnancies in women with Turner karyotype are high-risk pregnancies with an increased risk of maternal mortality from aortic dissection and morbidity from hypertensive disorders. A retrospective Swedish population-based registry study of 124 women with Turner karyotype born between 1957 and 1987 and who gave birth between 1973 and 2010. Women with Turner karyotype without childbirth (n = 378) were selected as controls. A second control group consisted of women from the Swedish Medical Birth Register (MBR) (n = 1230) matched for maternal age, number of children and year of birth of the first child. Women with Turner karyotype were identified in the Swedish Genetic Turner Register. Data were obtained by using the unique personal identification number with cross linkage to the Swedish MBR, the Cause of Death Register, the National Patient Register and the Swedish Cancer Register. Hazard ratio (HR) with 95% confidence interval (CI) was used in the analysis of morbidity. No mortality occurred in women with Turner karyotype and childbirth. Diseases of the circulatory system occurred more often in women with Turner syndrome under the age of 40 years compared with the MBR control group (HR 4.59; 95% CI 2.75-7.66) but was similar at or above the age of 40 years. Morbidity from circulatory diseases was increased before pregnancy (HR 3.83; 95% CI 1.02-14.43) and during pregnancy or within 1 year after (HR 5.78; 95% CI 1.94-17.24), but was similar after 1 or more years after delivery (HR 1.91; 95% CI 0.74-4.96). Aortic aneurysm occurred in 11/502 (2.2%) women with Turner karyotype and in three women (2.4%) during pregnancy. The long-term follow-up showed that aortic dissection was a

  20. Patterns of spatial functioning in Turner's syndrome.

    Science.gov (United States)

    Temple, C M; Carney, R A

    1995-03-01

    This paper presents results from a study of task performance on a variety of spatial tasks in 9-11 year-old children with Turner's Syndrome (T.S.), divided into those with genotype 45XO and those with Mixed genotypes, including isochromosomes of X and mosaicism. There was a significant overall effect of group reflecting impaired spatial cognition in T.S. with greater decrement in the 45XO group. Further investigation of the significant group by task interaction indicated that the group effects appeared on a visuo-perceptual task and on three visuo-constructional tasks but that there were no specific deficits in the T.S. groups on visuo-spatial or tactile-spatial tasks. In T.S., visuo-perceptual and visuo-constructive sub-systems of spatial skill may be more vulnerable than other components of spatial cognition, to the neuro-biological influences which contribute to the disorder. Such dissociation supports theories of modularity in the development of spatial skill. The spatial tasks which create difficulty overlap only partially with those for which there are sex differences amongst normal children and do not represent a simple exaggeration of normal male-female differences.

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

    Science.gov (United States)

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

    2016-10-21

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

  2. Power, Creativity, and Destruction in Turner's Fires

    Directory of Open Access Journals (Sweden)

    Leo Costello

    2017-12-01

    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.

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

    DEFF Research Database (Denmark)

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

    2013-01-01

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

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

    DEFF Research Database (Denmark)

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

    2002-01-01

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

  5. Turner syndrome: searching for better outcomes

    Directory of Open Access Journals (Sweden)

    Adauto Versiani Ramos

    2008-01-01

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

  6. Hearing loss in Adult Women with Turner Syndrome

    OpenAIRE

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

    2013-01-01

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

  7. Management of Turner syndrome in adult life and beyond.

    Science.gov (United States)

    Castelo-Branco, Camil

    2014-12-01

    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.

  8. Recurrent Vocal Fold Paralysis and Parsonage-Turner Syndrome

    Directory of Open Access Journals (Sweden)

    Marcus Vinicius Pinto

    2013-01-01

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

  9. Morgagni Hernia in a Girl With Turner Syndrome

    Directory of Open Access Journals (Sweden)

    Şenay Arıkan

    2008-08-01

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

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

    African Journals Online (AJOL)

    IRORO YARHERE

    The Nigerian Health Journal, Volume 16 No 2, April to June 2016 ... endorsed GH treatment for short girls with Turner syndrome. ... FASTING BLOOD SUGAR. ... levels have been normal since her follow-up and she has gained 6 cm in the past 1 year .... Cognitive function in some children with TS is grossly reduced when.

  11. 28 gonadal dysgenesis, turner's syndrome and phenotype in the ...

    African Journals Online (AJOL)

    1971-01-09

    Jan 9, 1971 ... GONADAL DYSGENESIS, TURNER'S SYNDROME AND PHENOTYPE IN THE. SOUTH AFRICAN BANTU*. H. J. GRACE, Genetics Department, Natal Instiiute of Immunology, Durban. The South African population is composed almost entirely of four races, the negroid Bantu; white Caucasoids; Asia-.

  12. Collectrin gene screening in Turner syndrome patients with kidney ...

    Indian Academy of Sciences (India)

    Turner syndrome (TS) affects one in 2500–3000 live-born girls, and is the most prevalent female sex chromosomal dis- order in humans, resulting from the loss of all or part of one of the two X chromosomes (Sybert and McCauley 2004). About 50% of TS patients carry a 45, X monosomy, the rest being mosaics or structural ...

  13. Osteoprotegerin in Turner syndrome - relationship to aortic diameter

    DEFF Research Database (Denmark)

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

    2015-01-01

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

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

    NARCIS (Netherlands)

    Menke, Leonie Alexandra

    2010-01-01

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

  15. A mother with variant Turner syndrome and two daughters with ...

    Indian Academy of Sciences (India)

    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 ...

  16. Areeda-turner in two-sided markets

    NARCIS (Netherlands)

    Behringer, S.; Filistrucchi, L.

    2015-01-01

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

  17. Areeda-Turner in Two-Sided Markets

    NARCIS (Netherlands)

    Behringer, S.; Filistrucchi, L.

    2014-01-01

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

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

    Science.gov (United States)

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

    2016-11-01

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

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

    Energy Technology Data Exchange (ETDEWEB)

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

    1994-09-01

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

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

    Directory of Open Access Journals (Sweden)

    Simone C. S. Coelho

    2007-12-01

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

  1. Growth curves for Turkish Girls with Turner Syndrome: Results of the Turkish Turner Syndrome Study Group.

    Science.gov (United States)

    Darendeliler, Feyza; Yeşilkaya, Ediz; Bereket, Abdullah; Baş, Firdevs; Bundak, Rüveyde; Sarı, Erkan; Küçükemre Aydın, Banu; Darcan, Şükran; Dündar, Bumin; Büyükinan, Muammer; Kara, Cengiz; Mazıcıoğlu, Mümtaz M; Adal, Erdal; Akıncı, Ayşehan; Atabek, Mehmet Emre; Demirel, Fatma; Çelik, Nurullah; Özkan, Behzat; Özhan, Bayram; Orbak, Zerrin; Ersoy, Betül; Doğan, Murat; Ataş, Ali; Turan, Serap; Gökşen, Damla; Tarım, Ömer; Yüksel, Bilgin; Ercan, Oya; Hatun, Şükrü; Şimşek, Enver; Ökten, Ayşenur; Abacı, Ayhan; Döneray, Hakan; Özbek, Mehmet Nuri; Keskin, Mehmet; Önal, Hasan; Akyürek, Nesibe; Bulan, Kezban; Tepe, Derya; Emeksiz, Hamdi Cihan; Demir, Korcan; Kızılay, Deniz; Topaloğlu, Ali Kemal; Eren, Erdal; Özen, Samim; Demirbilek, Hüseyin; Abalı, Saygın; Akın, Leyla; Eklioğlu, Beray Selver; Kaba, Sultan; Anık, Ahmet; Baş, Serpil; Ünüvar, Tolga; Sağlam, Halil; Bolu, Semih; Özgen, Tolga; Doğan, Durmuş; Çakır, Esra Deniz; Şen, Yaşar; Andıran, Nesibe; Çizmecioğlu, Filiz; Evliyaoğlu, Olcay; Karagüzel, Gülay; Pirgon, Özgür; Çatlı, Gönül; Can, Hatice Dilek; Gürbüz, Fatih; Binay, Çiğdem; Baş, Veysel Nijat; Sağlam, Celal; Gül, Davut; Polat, Adem; Açıkel, Cengizhan; Cinaz, Peyami

    2015-09-01

    Children with Turner syndrome (TS) have a specific growth pattern that is quite different from that of healthy children. Many countries have population-specific growth charts for TS. Considering national and ethnic differences, we undertook this multicenter collaborative study to construct growth charts and reference values for height, weight and body mass index (BMI) from 3 years of age to adulthood for spontaneous growth of Turkish girls with TS. Cross-sectional height and weight data of 842 patients with TS, younger than 18 years of age and before starting any therapy, were evaluated. The data were processed to calculate the 3rd, 10th, 25th, 50th, 75th, 90th and 97th percentile values for defined ages and to construct growth curves for height-for-age, weight-for-age and BMI-for-age of girls with TS. The growth pattern of TS girls in this series resembled the growth pattern of TS girls in other reports, but there were differences in height between our series and the others. This study provides disease-specific growth charts for Turkish girls with TS. These disease-specific national growth charts will serve to improve the evaluation of growth and its management with growth-promoting therapeutic agents in TS patients.

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

    Science.gov (United States)

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

    2010-01-01

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

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

    OpenAIRE

    Menke, Leonie Alexandra

    2010-01-01

    Turner syndrome (TS) is a disorder in females that is caused by the complete or partial absence of the second sex chromosome. The main characteristics are gonadal dysgenesis and short stature, with adult patients being on average 20 cm shorter than healthy women. Growth hormone (GH) therapy increases adult height with 5 to 12 cm and the addition of the weak androgen oxandrolone (Ox) may further increase adult height. This thesis describes the results of the first randomized, double-blind, pla...

  4. Parsonage-Turner Syndrome rather than Zoster Neuritis

    Directory of Open Access Journals (Sweden)

    Karim Gariani

    2011-07-01

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

  5. Growth Hormone Treatment in Turner's Syndrome: A Real World Experience

    OpenAIRE

    Vijay Sheker Reddy Danda; Sreedevi, P.; Arun, G.; P Srinivas Rao

    2017-01-01

    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 H...

  6. Pregnancy rate and outcome in Swedish women with Turner syndrome.

    Science.gov (United States)

    Bryman, Inger; Sylvén, Lisskulla; Berntorp, Kerstin; Innala, Eva; Bergström, Ingrid; Hanson, Charles; Oxholm, Marianne; Landin-Wilhelmsen, Kerstin

    2011-06-30

    Pregnancies occurred in 57 (12%) of 482 Swedish women with Turner syndrome with a liveborn rate of 54% in 124 pregnancies. Spontaneous pregnancies occurred in 40%, mainly in women with 45,X/46,XX mosaicism, and oocyte donation in 53% where miscarriages were less frequent, odds ratio = 0.43 (95% confidence interval 0.17-1.04). Copyright © 2011 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.

  7. Nonclassic congenital adrenal hyperplasia misdiagnosed as Turner syndrome

    Directory of Open Access Journals (Sweden)

    Vineet V Mishra

    2015-01-01

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

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

    Directory of Open Access Journals (Sweden)

    Acir Rachid

    2005-02-01

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

  9. Profiles: A Pilgrim’s Progress: Decherd Turner, 1922-2002

    Directory of Open Access Journals (Sweden)

    Valerie Hotchkiss

    2013-12-01

    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.

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

    NARCIS (Netherlands)

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

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

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

    Science.gov (United States)

    Cadoret, F; Lorenzini, F; Parant, O

    2015-09-01

    The authors report an uncommon case of a pregnant woman with Turner syndrome (TS) whose pregnancy (with favorable outcome) was complicated by a pemphigoid gestationis in third trimester. This case points out that monitoring of these pregnancies is not limited to cardiac monitoring. Prevalence of auto-immune diseases is increased in the TS. Auto-immune dermatoses, such as pemphigoid gestationis, are one of the potential complications during pregnancy and should be known to practitioners. Copyright © 2014 Elsevier Masson SAS. All rights reserved.

  12. Cytogenetic and molecular findings in patients with Turner's syndrome stigmata.

    OpenAIRE

    Kuznetzova, T; Baranov, A; Schwed, N; Ivaschenko, T; Malet, P; Giollant, M; Savitsky, G A; Baranov, V

    1995-01-01

    Cytogenetic and DNA analysis in 12 people with stigmata of Turner's syndrome was carried out. Cytogenetic analysis of these patients showed two subjects with 46,X, i(Xq) karyotypes, one with 45,X/46,X, i(Xq), one with 46,X,t(X;Y), and eight with 45,X/46,X,mar. Molecular analysis of DNA samples was performed in nine out of 12 patients with marker chromosomes. PCR analysis with oligoprimers specific for SRY, DYZ1, or DYZ3 loci identified Y chromosome material in five patients in the latter grou...

  13. Parenting a daughter with precocious puberty or Turner syndrome.

    Science.gov (United States)

    Williams, J K

    1995-01-01

    Alterations in sexual maturation present parenting challenges for mothers of these children. The purpose of this exploratory study was to identify specific childrearing problems and management behaviors used by mothers of daughters with two chronic conditions, precocious puberty and Turner syndrome. Problems included communicating with school personnel, supervising peer relationships, and attempting to normalize their daughter's physical appearance. The most common management behavior was taking charge to prevent or attempt to solve problems. Implications for clinical practice include providing anticipatory guidance, supporting parent communication strategies, and providing support and information resources.

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

    DEFF Research Database (Denmark)

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

    2010-01-01

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

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

    DEFF Research Database (Denmark)

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

    2010-01-01

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

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

    Directory of Open Access Journals (Sweden)

    Vijay Sheker Reddy Danda

    2017-01-01

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

  17. Growth Hormone Treatment in Turner's Syndrome: A Real World Experience.

    Science.gov (United States)

    Reddy Danda, Vijay Sheker; Sreedevi, P; Arun, G; Rao, P Srinivas

    2017-01-01

    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. 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. 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. Our observation shows that girls with TS benefit from early diagnosis and initiation of treatment with GH.

  18. Cardiac malformations and hypertension, but not metabolic risk factors, are common in Turner syndrome.

    Science.gov (United States)

    Landin-Wilhelmsen, K; Bryman, I; Wilhelmsen, L

    2001-09-01

    Turner syndrome (TS) is caused by an X chromosome aberration and is characterized by endogenous estrogen deficiency secondary to ovarian dysgenesis and short stature. Our aim was to study the prevalence of cardiovascular malformations and cardiovascular risk factors (blood pressure, blood lipids and glucose, coagulation factors, social factors, smoking habits) in adults with Turner syndrome in comparison with a female random population sample. One hundred women with Turner syndrome (aged 16-71 yr) underwent physical examination, echocardiography, electrocardiography, and blood sampling. Seventy-one of them were matched for age [mean age, 33.7 +/- 11 yr (range, 25-64)] with a random population sample (n = 213) of women [mean age, 34.8 +/- 9 yr (range, 25-64)] from the World Health Organization's Monitoring of Trends and Determinants in Cardiovascular Diseases Project, Göteborg. Six percent of Turner syndrome women were smokers compared with 25% in the population (P < 0.001). Turner syndrome women were relatively heavier and had a lower degree of leisure time physical activity than controls (P < 0.001). Diabetes and treatment for hypertension were present in 3 and 22% among Turner syndrome women vs. 2% (not significant) and 3% (P < 0.001) in controls, respectively. Cardiovascular malformations were found among 17% in Turner syndrome women (45,X dominated) vs. 0.5% in controls (P < 0.001). Systolic but not diastolic blood pressure was higher in Turner syndrome women. No differences were seen in serum total cholesterol, high- or low-density lipoprotein cholesterol, triglycerides, lipoprotein (a), or plasma fibrinogen concentrations between patients and controls. Diabetes or hypertension was not related to karyotype. In conclusion, congenital cardiovascular malformations were frequent. Most cardiovascular risk factors (glucose and lipid levels, fibrinogen, smoking habits) were not increased, but hypertension was more common in Turner syndrome women.

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

    Directory of Open Access Journals (Sweden)

    Craig Hamilton

    2012-01-01

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

  20. Turner's prize[London transport policy

    Energy Technology Data Exchange (ETDEWEB)

    Sherrington, M.

    2000-10-26

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

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

    Directory of Open Access Journals (Sweden)

    V.S. Vernyhorodskyi

    2016-04-01

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

  2. Detection system for optical coherence tomography: Czerny-Turner spectrometer

    Science.gov (United States)

    Kamińska, Aleksandra

    2017-08-01

    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.

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

    Science.gov (United States)

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

    2017-06-01

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

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

    NARCIS (Netherlands)

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

    2014-01-01

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

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

    Science.gov (United States)

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

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

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

    DEFF Research Database (Denmark)

    Gravholt, Claus Højbjerg; Poulsen, Henrik Enghusen; Ott, Peter

    2007-01-01

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

  7. Squamous cell carcinoma of the vulva in a virgin patient with Turner syndrome.

    Science.gov (United States)

    Tapisiz, Omer Lutfi; Topcu, Onur; Gungor, Tayfun; Ozdal, Bulent; Sirvan, Levent; Yesilyurt, Ahmet

    2011-09-01

    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.

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

    Science.gov (United States)

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

    2011-05-01

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

  9. Clinical disease characteristics according to karyotype in Turner syndrome

    Directory of Open Access Journals (Sweden)

    Chae Young Yeo

    2010-02-01

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

  10. Treatment of Turner's syndrome with recombinant human growth hormone (somatrem).

    Science.gov (United States)

    Lippe, B; Rosenfeld, R G; Hintz, R L; Johanson, A J; Frane, J; Sherman, B

    1988-01-01

    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.

  11. Postsurgical Parsonage-Turner syndrome: a challenging diagnosis.

    Science.gov (United States)

    Verhasselt, Skrallan; Schelfaut, Sebastiaan; Bataillie, Filiep; Moke, Lieven

    2013-02-01

    Parsonage-Turner syndrome (PTS) is a distinct clinical syndrome, characterized by acute and severe (mostly) unilateral shoulder pain, followed by paresis and atrophy of the shoulder girdle, while the pain decreases. Most authors consider it as an immune-mediated disorder. PTS is notoriously unrecognised and is usually diagnosed with delay. A PTS may also occur following a surgical procedure. Postsurgical PTS is an under-recognised and challenging clinical entity, as illustrated in the case reported here of a 59-year-old man, 4 weeks after anterior discectomy and fusion C5C7. In such cases, the differential diagnosis must be made with a complication of surgery, such as postoperative C5 palsy due for instance to a migrated bone graft. Arguments for PTS are: a certain delay between surgery and symptoms, intolerable pain followed by weakness and improvement of pain complaints, divergent distribution of weakness, sensory deficit and pain, which may be confirmed by electrodiagnosis. Early recognition of postsurgical PTS may avoid unnecessary investigations or surgical exploration. It allows to treat the patient properly, leading to greater satisfaction of both surgeon and patient; pain management, physical therapy and reassurance are the cornerstones.

  12. Increased fracture rates in Turner's syndrome: a nationwide questionnaire survey.

    Science.gov (United States)

    Gravholt, Claus Højbjerg; Vestergaard, Peter; Hermann, Anne Pernille; Mosekilde, Leif; Brixen, Kim; Christiansen, Jens Sandahl

    2003-07-01

    Reduced bone mineral content (BMC) and bone mineral density (BMD) have previously been reported in Turner's syndrome, although appropriate GH treatment and early induction of puberty seem to permit normal bone mass accumulation. Furthermore, an increased risk of fractures and osteoporosis have been reported in a registry study. The aim of the present study was to further characterize the risk of fractures in TS and to explore risk factors, in a historical follow-up survey based on a self-administered questionnaire. The questionnaire was issued to all females with TS (n = 632) in Denmark and to 1888 randomly selected controls (C) matched for age and geographical region. A total of 322 patients (51%) and 1169 controls (62%) returned the questionnaire. TS women were younger than C (30 years, range: 1-73 years vs. 34 years, range 2-82 years, P protective in females above 13 years of age (HR: 0.70, CI 0.54-0.93, P = 0.012). A history of parental fractures increased the risk (HR 1.92, CI 1.62-2.27, P early fractures in TS, especially in those without ovarian function and with a positive family history of fracture and osteoporosis. It thereby emphasizes the need for being vigilant with respect to BMD measurements in these patients.

  13. Genetic analysis of mosaicism in 53 women with Turner syndrome.

    Science.gov (United States)

    Hanson, L; Bryman, I; Barrenäs, M L; Janson, P O; Wahlström, J; Albertsson-Wikland, K; Hanson, C

    2001-01-01

    Mosaicism involving the sex chromosomes is a common finding in women with Turner syndrome (TS). It is especially important to detect Y-chromosomal material, since this is a risk factor for the development of gonadoblastoma. Recent studies have also indicated that the frequency of 45,X cells may be used to predict prognosis. As part of an ongoing multi-disciplinary study, we have examined the extent of Y-chromosomal material and sex chromosomal mosaicism and its tissue specificity in 53 women with TS. The results of lymphocyte karyotyping were compared with the use of interphase X/Y fluorescence in situ hybridisation (FISH) analysis of lymphocytes and buccal mucosal cells. As could be expected, an extended FISH analysis detected more Y-chromosomal material than karyotyping (in 15% vs. 11% of the women, respectively) and also detected more X-chromosomal mosaicism among the TS women (in 70% vs. 45 % of the women, respectively). In half of the women, tissue-specific differences between lymphocytes and buccal mucosal cells were found. Based on these results, we suggest the use of X/Y interphase FISH as a complement to karyotyping in order to obtain a more complete knowledge of the chromosome constitution of each individual with TS.

  14. A Case of Turner Syndrome with Multiple Embolic Infarcts

    Directory of Open Access Journals (Sweden)

    Cindy W. Yoon

    2016-09-01

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

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

    Science.gov (United States)

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

    2017-06-01

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

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

    Directory of Open Access Journals (Sweden)

    Christian Trolle

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

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

    Science.gov (United States)

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

    2012-06-01

    John Turner, whose pioneering work on social identity and self-categorization theories changed the face of modern social psychology, died in July 2011. This unique virtual special issue celebrates Turner's life and work by reproducing a number of key articles that were published in the British Journal of Social Psychology and the European Journal of Social Psychology over the course of his career. These articles are of three types: first, key position papers, on which Turner was the leading or sole author; second, papers that he published with collaborators (typically PhD students) that explored key theoretical propositions; third, short commentary papers, in which Turner engaged in debate around key issues within social psychology. Together, these papers map out a clear and compelling vision. This seeks to explain the distinctly social nature of the human mind by showing how all important forms of social behaviour - and in particular, the propensity for social influence and social change -are grounded in the sense of social identity that people derive from their group memberships. As we discuss in this editorial, Turner's great contribution was to formalize this understanding in terms of testable hypotheses and generative theory and then to work intensively but imaginatively with others to take this vision forward. ©2012 The British Psychological Society.

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

    Science.gov (United States)

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

    2017-02-02

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

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

    Science.gov (United States)

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

    2014-01-01

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

  20. Methylenetetrahydrofolate reductase gene polymorphisms in Egyptian Turner Syndrome patients.

    Science.gov (United States)

    Ismail, Manal F; Zarouk, Waheba A; Ruby, Mona O; Mahmoud, Wael M; Gad, Randa S

    2015-01-01

    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.

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

    Directory of Open Access Journals (Sweden)

    Rose Mary Rocco de Oliveira

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

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

    Energy Technology Data Exchange (ETDEWEB)

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

    1994-09-01

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

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

    Science.gov (United States)

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

    2016-01-01

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

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

    Science.gov (United States)

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

    2016-10-01

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

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

    Directory of Open Access Journals (Sweden)

    Annelise Barreto Carvalho

    2010-01-01

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

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

    OpenAIRE

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

    2017-01-01

    Most cases of Van der Woude syndrome are caused by a mutation to interferon regulatory factor 6 on chromosome 1. Turner syndrome is caused by complete or partial absence of the second sex chromosome in girls. We describe a unique case of the two syndromes occurring concurrently though apparently independently in a girl with Van der Woude syndrome diagnosed at birth and Turner syndrome at 14 years 9 months. Short stature was initially misattributed to Van der Woude syndrome and pituitary insuf...

  7. Prosthodontic treatment and medical considerations for a patient with Turner syndrome: a clinical report.

    Science.gov (United States)

    Nguyen, Caroline T; Hofstede, Theresa M

    2012-10-01

    This clinical report describes a multidisciplinary approach in the rehabilitation of a 23-year-old Caucasian woman affected with Turner's syndrome and subsequently diagnosed with T4 Giant cell reparative granuloma of the right maxillary sinus. The surgical treatment included a maxillectomy and infratemporal fossa dissection followed by a free fibula palatal reconstruction, fibula bone graft of the orbital floor, dental implant placement, and prosthodontic rehabilitation. Prosthodontic planning and treatment considerations in an adult patient with Turner Syndrome are discussed. © 2012 by the American College of Prosthodontists.

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

    Directory of Open Access Journals (Sweden)

    Lígia Z. C. Suzigan

    2004-08-01

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

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

    NARCIS (Netherlands)

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

    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

  10. Revision of the genus Parasapyga Turner (Hymenoptera, Sapygidae, with the description of two new species

    Directory of Open Access Journals (Sweden)

    Kees van Achterberg

    2014-01-01

    Full Text Available Two new species, Parasapyga boschi sp. n. from Vietnam and P. yvonnae sp. n. from Indonesia are described. Parasapyga walshae van der Vecht, 1940, is treated as a valid species instead of a subspecies of P. moelleri Turner, 1910. A key to the species of the genus is added and all species are illustrated.

  11. A nonmosaic 45,X karyotype in a mother with Turner's syndrome and in her daughter.

    Science.gov (United States)

    Cools, Martine; Rooman, Raoul P A; Wauters, Jan; Jacqemyn, Yves; Du Caju, Marc V L

    2004-10-01

    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.

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

    DEFF Research Database (Denmark)

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

    2015-01-01

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

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

    NARCIS (Netherlands)

    Hagen, I.M. van; Duijnhouwer, A.L.; Kate-Booij, M.J. ten; Dykgraaf, R.H.; Duvekot, J.J.; Utens, E.M.; Roos-Hesselink, J.W.

    2017-01-01

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

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

    NARCIS (Netherlands)

    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)

    2017-01-01

    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

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

    Energy Technology Data Exchange (ETDEWEB)

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

    2004-08-01

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

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

    NARCIS (Netherlands)

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

    2011-01-01

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

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

    Directory of Open Access Journals (Sweden)

    Intae Choi

    2017-08-01

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

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

    NARCIS (Netherlands)

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

    1993-01-01

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

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

    NARCIS (Netherlands)

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

    2011-01-01

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

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

    NARCIS (Netherlands)

    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

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

    NARCIS (Netherlands)

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

    2012-01-01

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

  2. 2nd Turner Lecture Battling for History: The Impact of War upon ...

    African Journals Online (AJOL)

    case for chewing off more than one can bite, 'the impact of war upon modem South. Africa' must be it. Ideally, one ... as A.J.P. Taylor thought memorably that the Second World War was wonderful, so we can all agree on ... He delivered the 2"" Turner Lecture at a gala dinner during the War and Society in. Africa conference ...

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

    CERN Multimedia

    2003-01-01

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

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

    Science.gov (United States)

    Choi, Intae

    2017-01-01

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

  5. 2nd Turner Lecture Battling for History: The Impact of War upon ...

    African Journals Online (AJOL)

    Battling for History. 2nd Turner Lecture. Battling for History: The Impact of War upon Modern South Africa. Bill Nasson •. I should like to start this talk with two ..... 'leadership training.' Yet, according to the present leadership-training debate, training is but one aspect of leader development. And from this we may deduce that ...

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

    Science.gov (United States)

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

    2010-01-01

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

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

    Energy Technology Data Exchange (ETDEWEB)

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

    2017-04-15

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

  8. [Screening for Y chromosome sequences in patients with Turner syndrome].

    Science.gov (United States)

    Ferrão, Lénia; Lopes, Maria Lurdes; Limbert, Catarina; Marques, Bárbara; Boieiro, Filomena; Silva, Marisa; Marques, Ramira; Lavinha, João; Mota, Amilcar; Gonçalves, João

    2002-01-01

    The Turner syndrome (TS) has been described in association with different sex chromosome aberrations. Although most TS patients show no evidence of Y chromosome sequences, according to different authors some TS patients may have Y chromosome material present in a few cells that are not detected by standard cytogenetic analysis. The importance of identification of this low level Y mosaicism is of clinical relevance due to the patient's increased risk of developing gonadoblastoma. In the present study, standard chromosome analysis performed on peripheral blood lymphocytes from 22 TS patients showed 12 patients with 45,X karyotype, 7 patients were mosaics with or without structural abnormalities in one X chromosome and, the remaining three patients had the following karyotypes: 46,X,i(X)(q10); 46,X,+mar/47,X,idic(Y),+mar and 45,X/46,X,+r. Molecular studies were performed on genomic DNA extracted from peripheral blood lymphocytes and mouth epithelial cells, which derive from two different embryonic germ layers, mesoderm and ectoderm, respectively. The screening for low level Y mosaicism was carried out by simplex PCR and by nested PCR of the following Y specific loci: SRY (sex determining region Y), TSPY (testis specific protein Y encoded), DYZ3 (centromeric locus) and DAZ1 (deleted in azoospermia). In two TS patients a set of STSs of the Y long and short arms were used to characterize the idic(Y) and the ring chromosomes. The high sensitivity of the nested PCR (1 male cell/125,000 female cells) allowed for exclusion of the presence of low level Y mosaicism in 20 out of 22 TS patients. In the patient with the idic(Y), PCR analysis was positive for all Y loci tested excluding the heterochromatic region. This result identified the breakpoint between sY158 and sY159 on the long arm and, by fluorescence in situ hybridization (FISH) it was confirmed that the euchromatic part of the long arm, centromere and short arm of the Y chromosome were duplicated. The characterization

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

    Directory of Open Access Journals (Sweden)

    Shagufta Parveen

    2017-03-01

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

  10. Notes on the Taxonomic status of Polyalthia malabarica (Bedd. I. M. Turner (Annonaceae and a new variety from India

    Directory of Open Access Journals (Sweden)

    Mohan Alister

    2017-08-01

    Full Text Available The taxonomic status of Polyalthia malabarica (Bedd. I. M. Turner is discussed and a variety from Western Ghats of India is newly proposed with taxonomic description and illustration.

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

    DEFF Research Database (Denmark)

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

    2017-01-01

    Turner syndrome affects 25-50 per 100,000 females and can involve multiple organs through all stages of life, necessitating multidisciplinary approach to care. Previous guidelines have highlighted this, but numerous important advances have been noted recently. These advances cover all specialty...... 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...

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

    Science.gov (United States)

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

    2009-01-01

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

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

    Directory of Open Access Journals (Sweden)

    Gioconda Manassero-Morales

    2016-01-01

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

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

    Directory of Open Access Journals (Sweden)

    Estela Morales Peralta

    2005-03-01

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

  15. Final height in girls with Turner's syndrome treated with once or twice daily growth hormone injections

    OpenAIRE

    Sas, T.; Keizer-Schrama, S; Stijnen, T.; van Teunenbroek, A; Hokken-Koelega, A.; Waelkens, J.; Massa, G.; Vulsma, T.; Gerver, W; Reeser, H; de Waal, H E D.-v.; Jansen, M.; Drop, S.; The, D.

    1999-01-01

    OBJECTIVES—To study final height in girls with Turner's syndrome treated with once or twice daily injections of growth hormone (GH) in combination with low dose ethinyl oestradiol.
DESIGN—Until final height was reached, the effect of fractionated subcutaneous injections given twice daily was compared with once daily injections of a total GH dose of 6 IU/m2/day. Twice daily injections were given as one third in the morning and two thirds at bedtime. All girls concurrently ...

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

    Science.gov (United States)

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

    2015-11-01

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

  17. Methionyl human growth hormone and oxandrolone in Turner syndrome: preliminary results of a prospective randomized trial.

    Science.gov (United States)

    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

    1986-12-01

    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.

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

    Science.gov (United States)

    Fan, Zhe; Zhang, Yingyi

    2017-08-01

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

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

    Directory of Open Access Journals (Sweden)

    Rashmi Bawa

    2016-03-01

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

  20. Visuospatial skills and their association with math performance in girls with fragile X or Turner syndrome.

    Science.gov (United States)

    Mazzocco, Michèle M M; Singh Bhatia, Neha; Lesniak-Karpiak, Katarzyna

    2006-04-01

    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.

  1. Spontaneous pregnancies in a Turner syndrome woman with Y-chromosome mosaicism.

    Science.gov (United States)

    Landin-Wilhelmsen, Kerstin; Bryman, Inger; Hanson, Charles; Hanson, Lars

    2004-06-01

    To present a case involving pregnancies in a Turner woman with Y-chromosome mosaicism. A descriptive case report of a single patient. A 39-year-old woman was admitted to the endocrine clinic due to fatigue and premature menopause. She had tried in-vitro fertilization and oocyte donation twice without pregnancies but became spontaneously pregnant at age 36 and 37 and delivered two girls. During the seventh month of the second pregnancy, a dissecting aortic aneurysm, a coarctation, and subsequently a pheochromocytoma were detected and repaired. Hypothyroidism developed. Turner syndrome was diagnosed. Fluorescence in situ hybridization (FISH) analysis of lymphocytes revealed 31% XY cells and 4% XYY cells, while 66% of buccal cells had an XY constitution. Oophorectomy revealed no malignancy. FISH revealed 54% XY cells in the left gonad and 38% XY cells in the right. Turner syndrome should be suspected in women with aortic dissection, in general, but especially in those with additional features such as horseshoe kidney, coarctation, and infertility.

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

    Directory of Open Access Journals (Sweden)

    Bucerzan S

    2017-05-01

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

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

    Directory of Open Access Journals (Sweden)

    Saulo Gomes de Oliveira

    2010-01-01

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

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

    Directory of Open Access Journals (Sweden)

    A. Araújo

    2008-05-01

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

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

    Science.gov (United States)

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

    2017-03-01

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

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

    DEFF Research Database (Denmark)

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

    2010-01-01

    This study aimed to determine the dimensions of the thoracic aorta and the predictors of aortic dimensions in girls and young women with Turner syndrome (TS). A cross-sectional study was performed at a secondary care center. The study compared 41 TS patients with 50 healthy age-matched control.......03). The presence of bicuspid aortic valves correlated at the descending part of the aorta (R = 0.38; p girls or young TS patients. The BSA predicted aortic size at all positions. The prevalence of aortic dilation and aneurysm was lower...... in this population of girls and younger women with TS than in older TS populations....

  7. SÍNDROME DE TURNER CON MOSAICISMO 45X/46XY: REPORTE DE CASO

    OpenAIRE

    Saldarriaga Gil,Wilmar; Ávila Sánchez,Fernando; Isaza de Lourido,Carolina

    2011-01-01

    El síndrome de Turner tiene una prevalencia de 1 en 1800 a 5000 recién nacidos vivos femeninos y se caracteriza por la ausencia total o parcial del segundo cromosoma X. Actualmente se reconoce gran variedad en la presentación citogenética, siendo la más común la monosomia del X (45,X) y entre las menos frecuentes los mosaicismos que incluyen fragmentos o la totalidad del cromosoma Y. La presencia de este cromosoma confiere características fenotípicas de androgenización y obliga a la realizaci...

  8. Fatores associados a atraso no diagnóstico da síndrome de Turner

    OpenAIRE

    Miguel Neto, Jamil; Marini, Sofia Helena V. L.; Faria, Antonia Paula M.; Guerra Júnior, Gil; Guerra, Andréa Trevas M.

    2011-01-01

    OBJETIVO: Investigar as possíveis razões do atraso no diagnóstico da síndrome de Turner (ST), ou seja, aquele realizado após a idade em que se pode estabelecer o atraso puberal. MÉTODOS: Estudo transversal com obtenção de dados dos prontuários de 29 pacientes com ST diagnosticadas com mais de dois anos, entre 2004 e 2007. Foram comparados antecedentes pessoais e familiares e dados de exame físico das pacientes diagnosticadas com menos de 13 anos (limite a partir do qual se pode caracterizar a...

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

    Science.gov (United States)

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

    2016-01-01

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

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

    DEFF Research Database (Denmark)

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

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

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

    Energy Technology Data Exchange (ETDEWEB)

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

    1996-03-01

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

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

    Energy Technology Data Exchange (ETDEWEB)

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

    2010-12-15

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

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

    Directory of Open Access Journals (Sweden)

    Castro Ana Valéria Barros de

    2002-01-01

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

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

    Science.gov (United States)

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

    2015-01-01

    Abstract. The Growject® database on human GH treatment in Turner syndrome was analyzed in the Turner Syndrome Research Collaboration, and the relationships of the frequencies of spontaneous breast development and spontaneous menarche with karyotype and GH treatment were investigated. One hundred and three cases started GH treatment with 0.5 IU/kg/ week (0.5 IU group), and their dose was increased to 0.35 mg/kg/wk midway through the treatment course. Another 109 cases started GH at a dose of 0.35 mg/kg/wk (0.35 mg group). Spontaneous breast development was observed in 77 (36.3%) of the 212 patients, and spontaneous menarche occurred in 31 patients (14.6%). The frequency of spontaneous breast development was significantly lower in patients with the 45,X karyotype and significantly higher in patients with a structural abnormality of the second X chromosome. The frequency of spontaneous menarche was significantly higher in patients with mosaicism characterized by X monosomy and a cellular line with no structural abnormality of the X chromosome. No significant differences in frequencies of spontaneous breast development and spontaneous menarche were observed between the two dose groups, indicating that GH treatment does not increase the frequency of spontaneous puberty. PMID:26568657

  15. [Turner syndrome: spontaneous growth of stature, weight increase and accelerated bone maturation].

    Science.gov (United States)

    Cabrol, S; Saab, C; Gourmelen, M; Raux-Demay, M C; Le Bouc, Y

    1996-04-01

    Since growth hormone is effective in increasing the height of girls with Turner's syndrome, it is important to dispose of growth and bone maturation curves in a large number of untreated patients. Data on growth and bone maturation were collected from 160 patients with Turner's syndrome (50 have reached final height), born 1965-1991, untreated with growth hormone or anabolic steroids. X monosomy was found in half of the patients, mosaicism or X abnormality was present in the other half. Spontaneous puberty occurred in 25% (n = 25) of patients older than 13 years, 38 patients received estrogen after 13 years. Final heights were compared to predicted height according to Lyon's method. Forty-five percent of patients were small for date. Height velocity decreased from 2 years of age and decreased faster during adolescence, when gonadal dysgenesis occurred. Bone maturation velocity decreased also during adolescence. Excessive weight appeared after the age of 5 years. Patients with partial deletion of the long arm of X (n = 6) were taller than the other girls (n = 44) (mean +/- DS) 152.5 +/- 3.1 cm, range 150-158 cm versus 142.5 +/- 4.9 cm, 130-150 cm (P syndrome.

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

    Science.gov (United States)

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

    2016-01-01

    Neuralgic amyotrophy, brachial neuritis or Parsonage-Turner syndrome is a rare neuromuscular involvement of unknown aetiology. When it onsets in connection with a health care act, such as childbirth or surgery, a malpractice argument is often used as a cause of adverse outcome, usually due to an incorrect position of the patient on the operating table, a circumstance which directly involves the anesthesia area. Three cases are presented of Parsonage-Turner syndrome following very different surgery, with different results as regards prognosis. A review and discussion of bibliography is presented on the possibility that such circumstances are the subject of malpractice claims. Special emphasis is placed on the most currently accepted aetiopathogenic theories, and the relationship of this syndrome with the surgical act as a determining medico-legal aspect. Valuation parameters are proposed. Copyright © 2016 Sociedad Española de Anestesiología, Reanimación y Terapéutica del Dolor. Publicado por Elsevier España, S.L.U. All rights reserved.

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

    Directory of Open Access Journals (Sweden)

    Dorina STOICANESCU

    2009-11-01

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

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

    Science.gov (United States)

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

    2014-06-01

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

  19. Retinal damages in turner workers of a factory exposed to intraocular foreign bodies.

    Science.gov (United States)

    Shushtarian, S Masoud; Mirdehghan, M S; Valiollahi, P

    2008-12-01

    Damages caused by an intraocular foreign body (IOFB) to the visual system, mainly the retina, mostly occur during certain occupational activities. Turners are among the laborers who are mostly exposed to IOFB. The aim of the present work is to survey the effect of an IOFB on the visual system, mainly the retina. Fifty laborers of a turner factory who were exposed to IOFB were selected. Electroretinography (ERG) was recorded in all the laborers. Beside these workers, 50 laborers with no incidence of IOFB were also selected. They were also tested using ERG. The results obtained in the two groups were compared together to search for the possible changes in the two groups. The ERG patterns of the case groups were found to be changed in comparison to the control group. The changes were observed in the area under the b-wave of the ERG pattern in the early stage of damage and in the late stages, the latency and amplitude of the ERG b-wave were also affected. Finally, from the result of the present study, one can conclude that ERG is a suitable technique to search for the retinal changes in the laborers exposed to IOFB.

  20. Compromised trabecular microarchitecture and lower finite element estimates of radius and tibia bone strength in adults with turner syndrome

    DEFF Research Database (Denmark)

    Hansen, Stinus; Brixen, Kim; Gravholt, Claus H

    2012-01-01

    Although bone mass appear ample for bone size in Turner syndrome (TS), epidemiological studies have reported an increased risk of fracture in TS. We used high-resolution peripheral quantitative computed tomography (HR-pQCT) to measure standard morphological parameters of bone geometry and microar...... in TS patients in radius (-15%) and tibia (-13%) (both p ...

  1. The effect of oxandrolone on body proportions and body composition in growth hormone-treated girls with Turner syndrome.

    NARCIS (Netherlands)

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

    2010-01-01

    OBJECTIVE: Untreated girls with Turner syndrome (TS) have short stature, relatively broad shoulders, a broad pelvis, short legs, a high fat mass and low muscle mass. Our objective was to assess the effect of the weak androgen oxandrolone (Ox) on body proportions and composition in growth hormone

  2. Prolonged QT interval and cardiac arrest after a single dose of amiodarone in a woman with Turner's syndrome

    DEFF Research Database (Denmark)

    Nielsen, Dorte Guldbrand; Nielsen, Jens Cosedis; Trolle, Christian

    2017-01-01

    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....

  3. Growth hormone treatment for Turner syndrome in Australia reveals that younger age and increased dose interact to improve response

    NARCIS (Netherlands)

    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

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

    OpenAIRE

    González Rodríguez, María Paz; Velarde Mayol, Cristina

    2011-01-01

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

  5. Turner Syndrome

    Science.gov (United States)

    ... Funding Opportunities & Notices Contract Opportunities Grants Process, Policies & Strategies Peer Review Small Business Programs Training & Career Development For Applicants Sample Applications ...

  6. Turner syndrome

    Science.gov (United States)

    ... High blood pressure Diabetes Thinning of the bones (osteoporosis) Widening of the aorta and narrowing of the aortic valve Cataracts Obesity Other issues may include: Weight management Exercise Transition ...

  7. Turner Syndrome

    Science.gov (United States)

    ... and non-verbal learning disabilities (like difficulty with math). Other possible medical problems include being overweight, dental ... based on the most advanced clinical and scientific knowledge from The Endocrine Society ( www. endo- society. org ). ...

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

    Directory of Open Access Journals (Sweden)

    Charles C. Kolb

    1999-11-01

    Full Text Available Human sacrifice and cannibalism, the potential for institutionalized violence or warfare, witchcraft or sorcery, and ritual executions are emotionally charged issues; but some anthropologists and other learned scholars now suggest that these activities and behaviors occurred in the American Southwest, a region usually depicted for peace, harmony, tranquility, and spirituality. Christy Turner, Regents' Professor in the Department of Anthropology at Arizona State University, and his late wife, Jacqueline (1934-1996, are the co-authors of Man Corn. The book's title derives from the Nahuatl word tlacatlaolli, a "sacred meal of sacrificed human meat, cooked with corn." The Nahuatl and Mesoamerican connections are more than coincidental. The idea for this volume was conceived in 1958, and Christy dedicates the volume to the memory of his wife. They comment (p. 8 that "re­search on cannibalism has not been free of controversy or political and professional censuring" and they cite instances where their work has been disbelieved, dismissed, or admonished.

  9. Brachioradial pruritus in a patient with cervical disc herniation and Parsonage-Turner syndrome*

    Science.gov (United States)

    Carvalho, Sandrina; Sanches, Madalena; Alves, Rosário; Selores, Manuela

    2015-01-01

    Brachioradial pruritus is a chronic sensory neuropathy of unknown etiology which affects the skin of the shoulders, arms and forearms on the insertion of the brachioradialis muscle. We describe the case of a 60-yearold woman recently diagnosed with multiple myeloma who refers paresis, severe pruritus and itching lesions on the right arm with 6 months of evolution. Investigation led to a diagnosis of Brachioradial pruritus consequent to the presence of cervical disc herniation and Parsonage-Turner syndrome. The patient started gabapentin 900mg/day with good control of itching. Corticosteroids and antihistamines are often ineffective in the treatment of BP. Gabapentin has been used with encouraging results. All patients with Brachioradial pruritus should be evaluated for cervical spine injuries. PMID:26131874

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

    DEFF Research Database (Denmark)

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

    examined once. Aortic dimensions were measured at nine positions using 3D, non-contrast and free-breathing cardiovascular-MRI. HRV measured by short-term spectral analysis (supine-standing), transthoracic echocardiography, 24-hour ambulatory BP were done. Results: The changes in High frequency (HF) power......-average=-0.312 and -0.341; pmeasures of HRV. Prospectively there were no changes in HRV. Conclusions: A perturbed sympatho-vagal balance is present in TS explained by a decreased vagal activity......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...

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

    DEFF Research Database (Denmark)

    Nissen, Nis; Gravholt, Claus H; Abrahamsen, Bo

    2007-01-01

    OBJECTIVE: Patients with Turner syndrome (TS) have altered growth and increased risk of osteoporosis due to oestrogen deficiency and possibly a host of other factors. Thus, TS patients have a 4.9-fold increased risk of femoral neck fractures. Most patients are treated with oestrogen during puberty...... with healthy controls. PATIENTS: The study population comprised 58 patients with TS (aged 22-67 years) and 60 age-matched healthy women (aged 21-65 years). MEASUREMENTS: Hip axis length (HAL), neck width (NW), neck shaft angle (NSA), and femoral head-radius (HR) on dual-energy X-ray absorptiometry (DXA) screen...... and adolescence to facilitate pubertal development and prevent secondary osteoporosis. The geometry of the hip is a predictor for hip fractures independent of bone mineral density (BMD). The purpose of the present study was to investigate the variation of the geometry of the hip in patients with TS in comparison...

  12. A girl with increased writing and painting activities associated with Turner's syndrome and autistic spectrum disorder.

    Science.gov (United States)

    Ahouee, Shohreh Mohseni; Shooshtari, Mitra Hakim; Bidaki, Reza

    2015-01-01

    This report describes the findings on the evaluation of a 9-year-old girl with disabling and pronounced increased writing and painting activities associated with Turner's syndrome and autistic spectrum disorder. She spent most of the time doing these activities which affected not only her academic performance, but also social relationships. A comprehensive treatment plan consists of both biological and psychological aspects, is the main point of this case. Low dose of risperidone (0.5 mg/day) was started to decrease the patient's stereotypic behaviors. Sertraline (12.5 mg/day) was prescribed for her phobia. She was also referred to an occupational therapist in order to improve her social skills.

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

    DEFF Research Database (Denmark)

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

    2011-01-01

    Aims: To evaluate area bone mineral density (aBMD) and volumetric BMD (vBMD) by dual-energy X-ray absorptiometry, and relations to bone markers and hormones in adolescent women with Turner syndrome (TS). Methods: Cross-sectional study in TS patients (n = 37, 16.7 ± 3.4 years) and control group (n......' TS, compared to controls. vBMD(hip) was lower in 'ongoing GH' TS, but similar in 'previous GH'. z scores for aBMD were uniformly reduced in 'ongoing TS', but near-normalized in 'previous GH' TS. Bone formation and resorption markers were increased in 'ongoing GH' TS, while 'previous GH' TS had...... elevated bone resorption markers. Conclusion: BMD increased in parallel with age in TS patients receiving optimal estradiol replacement therapy and GH according to consensus guidelines, and in controls. Young TS undergoing pubertal induction and still receiving GH have lower z score BMD than older TS...

  14. Increased Frequency of HLA B 17 Antigen in Girls with Turner Syndrome and their Fathers

    Directory of Open Access Journals (Sweden)

    C. Dacou-Voutetakis

    1993-01-01

    Full Text Available HLA-A, -B and -DR antigen distribution was studied in 49 girls with Turner Syndrome (TS, in 43 of their parents, as well as in 433 controls. No increased frequency of DR3, DR4 was found in our group. However, an increased frequency of HLA B 17 antigen was disclosed (18.3% in TS versus 6.4% in the controls, p<0.001 and Pc<0.01. Furthermore, the HLA B 17 antigen was of paternal origin in 77.7% of the cases . The interpretation of the present findings is quite difficult. Most likely, the findings are related to the chromosomal abnormality rather than to autoimmunity. It is quite possible that genes within the region of class I genes create unfavorable circumstances leading to the loss of the sex chromosome or, alternatively, genes in this region confer protection and prevent miscarriage of the affected fetus.

  15. Winging of the scapula diagnosed as Parsonage-Turner syndrome: a case report.

    Science.gov (United States)

    Carroll, Christine; Bass, Bill

    2017-01-01

    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.

  16. Gonadoblastoma with Dysgerminoma in a Phenotypically Turner-Like Girl with 45,X/46,XY Karyotype.

    Science.gov (United States)

    Yüce, Özge; Döğer, Esra; Çelik, Nurullah; Emeksiz, Hamdi Cihan; Çamurdan, Mahmut Orhun; Bideci, Aysun; Cinaz, Peyami

    2015-12-01

    Individuals with 45,X/46,XY karyotype are at increased risk for germ cell tumor development. We report a case with a diagnosis of 45,X/46,XY gonadal dysgenesis who presented with short stature, physical stigmata of Turner syndrome. Her pubertal development was at Tanner stage 3. At follow-up, bilateral prophylactic gonadectomy was performed when considering the risk factors. Pathological assessment was consistent with gonadoblastoma in the left gonad, and dysgerminoma and gonadoblastoma in neighboring areas in the right gonad. The karyotype analysis of the right and left gonadal tissues reveled 45,X[97,3]/46,XY[2,7] and 45,X[92,7]/46,XY[4,5]/47,XYY [2,8] mosaic, respectively. The clinical management of such patient should be individualized according to the present risk factors. Additionally, signs of estrogenization like advanced breast development always suggest the possible presence of germ cell tumor.

  17. Alteracions neurosensorials en dones adultes amb Síndrome de Turner

    OpenAIRE

    Ros Cerro, Cristina

    2013-01-01

    ANTECEDENTS: La síndrome de Turner (ST) és una de malalties cromosòmiques més freqüents, i és deguda a la pèrdua total o parcial d’un cromosoma X. Els signes cardinals són la insuficiència gonadal i la talla baixa, però altres comorbiditats s’associen a la síndrome, com les malalties cardiovasculars, immunològiques, malformacions renals o l’osteoporosi. Alteracions neurosensorials han estat relacionades amb la ST, com diferents patrons d’hipoacúsia i disfuncions olfactòries i gustatives. L’...

  18. A Turner syndrome neurocognitive phenotype maps to Xp22.3

    Directory of Open Access Journals (Sweden)

    Elder Frederick F

    2007-05-01

    Full Text Available Abstract Background Turner syndrome (TS is associated with a neurocognitive phenotype that includes selective nonverbal deficits, e.g., impaired visual-spatial abilities. We previously reported evidence that this phenotype results from haploinsufficiency of one or more genes on distal Xp. This inference was based on genotype/phenotype comparisons of individual girls and women with partial Xp deletions, with the neurocognitive phenotype considered a dichotomous trait. We sought to confirm our findings in a large cohort (n = 47 of adult women with partial deletions of Xp or Xq, enriched for subjects with distal Xp deletions. Methods Subjects were recruited from North American genetics and endocrinology clinics. Phenotype assessment included measures of stature, ovarian function, and detailed neurocognitive testing. The neurocognitive phenotype was measured as a quantitative trait, the Turner Syndrome Cognitive Summary (TSCS score, derived from discriminant function analysis. Genetic analysis included karyotyping, X inactivation studies, fluorescent in situ hybridization, microsatellite marker genotyping, and array comparative genomic hybridization. Results We report statistical evidence that deletion of Xp22.3, an interval containing 31 annotated genes, is sufficient to cause the neurocognitive phenotype described by the TSCS score. Two other cardinal TS features, ovarian failure and short stature, as well as X chromosome inactivation pattern and subject's age, were unrelated to the TSCS score. Conclusion Detailed mapping suggests that haploinsufficiency of one or more genes in Xp22.3, the distal 8.3 megabases (Mb of the X chromosome, is responsible for a TS neurocognitive phenotype. This interval includes the 2.6 Mb Xp-Yp pseudoautosomal region (PAR1. Haploinsufficiency of the short stature gene SHOX in PAR1 probably does not cause this TS neurocognitive phenotype. Two genes proximal to PAR1 within the 8.3 Mb critical region, STS and NLGN4X, are

  19. CHARACTERIZATION OF SPONTANEOUS AND INDUCED PUBERTY IN GIRLS WITH TURNER SYNDROME.

    Science.gov (United States)

    Folsom, Lisal J; Slaven, James E; Nabhan, Zeina M; Eugster, Erica A

    2017-07-01

    To characterize puberty in girls with Turner syndrome (TS) and determine whether specific patient characteristics are associated with the timing of menarche. We also sought to compare spontaneous versus induced puberty in these patients. Medical records of girls followed in our Pediatric Endocrine clinic for TS from 2007 to 2015 were reviewed. Fifty-three girls were included, of whom 10 (19%) achieved menarche spontaneously and 43 (81%) received hormone replacement therapy (HRT). Of girls receiving HRT, a younger age at estrogen initiation correlated with a longer time to menarche (P = .02), and a mosaic karyotype was associated with a shorter time to menarche (P = .02), whereas no relationship was seen for body mass index, estrogen regimen, or maternal age at menarche. Nineteen girls (44%) receiving HRT had bleeding on estrogen alone at a wide dose range and were more likely to be on transdermal than oral preparations (P = .01). Girls with spontaneous puberty achieved menarche at a younger age (P<.01) and were more likely to have mosaic TS (P = .02). Significant variability in the timing of menarche exists among girls with TS. However, age at pubertal induction and karyotype were significantly correlated with age at menarche in our patients. A wide range of estrogen doses is seen in girls who bleed prior to progesterone, suggesting extreme variability in estrogen sensitivity among patients with TS. Girls achieving spontaneous menarche are younger and more likely to have a mosaic karyotype than those with induced menarche. Large-scale prospective studies are needed to confirm these results. BMI = body mass index; HRT = hormone replacement therapy; TS = Turner syndrome.

  20. Clinical features of women with Turner syndrome experiencing transition period in Japan.

    Science.gov (United States)

    Nishigaki, Satsuki; Hamazaki, Takashi; Tsuruhara, Akitoshi; Yoshida, Toshiko; Imamura, Takuji; Inada, Hiroshi; Fujita, Keinosuke; Shintaku, Haruo

    2017-05-30

    Turner syndrome results from the entire or partial loss of the second X chromosome, and is associated with a number of medical problems. Affected women require long-term medical follow-up. This study investigated the status of medical follow-up focusing on the transition for young adult women with Turner syndrome (TS). The clinical profiles of 63 women with TS over the age of 16 were retrospectively examined. Thirty-three women are continuously followed by pediatric endocrinologists at our pediatric division. Twenty women were transferred to gynecologists as primary care physicians. Eight young adult women dropped out of the regular health check-up from our pediatric division even though 7 women were undergoing estrogen replacement therapy. We further reviewed the complications and management of the 33 women who were continuously followed at our pediatric division. A high incidence of obesity and liver dysfunction were observed in this age group (23.5±8.7). Nineteen out of 33 women consulted a cardiologist in the adult care division for cardiovascular complications. In the analysis of 20 women who were transferred to gynecologists, mainly two gynecologists accepted the transfer and have become accustomed to clinical care for TS. Seven women who were followed by the gynecologist in our facility were adequately managed for lifelong complications. Since there is no clear framework for transition in Japan, coordination with other specialists, especially gynecologists, is essential for the successful management of adult women with TS. Patient education and provision of information are required for establishing self-advocacy, which will prevent drop-out.

  1. Women who gave birth to girls with Turner syndrome: maternal and neonatal characteristics.

    Science.gov (United States)

    Hagman, A; Wennerholm, U-B; Källén, K; Barrenäs, M-L; Landin-Wilhelmsen, K; Hanson, C; Bryman, I

    2010-06-01

    The aim was to identify maternal risk factors in women giving birth to girls with Turner syndrome (TS) and to describe the characteristics of newborns with TS. The Swedish Genetic Turner Register was cross-linked with the Swedish Medical Birth Register. Between 1973 and 2005, 494 children with TS were born. Maternal age, parity, height, smoking habits and neonatal characteristics; mode of delivery, gestational age, size at birth and Apgar score, were compared with women in the general population who gave birth to girls during the same period. More women with advanced maternal age (40+) delivered girls with TS, 3.2% when compared with 1.8% in the general population [OR 1.83, 95% confidence interval (CI) 1.09-3.08, after adjustment for year of birth]. Maternal height was inversely associated with TS pregnancies (P = 0.005). Late preterm birth occurred in newborns with TS in 10.5% when compared with 4.8% in the general population (OR 2.23; 95% CI: 1.67-2.97, after adjustment for year of birth and maternal age). Newborns with TS had birthweight less than -2SD in 17.8% and birth length less than -2SD in 21.0% when compared with 3.5 and 3.4%, in the general population (OR 6.55; 95% CI: 5.12-8.38 and OR 8.69; 95% CI: 6.89-10.97, after adjustment for year of birth and maternal age). Advanced maternal age and short stature were risk factors for giving birth to a girl with TS. More TS girls were born late preterm and were smaller for gestational age than non-TS girls in the general population.

  2. Final height in girls with Turner's syndrome treated with once or twice daily growth hormone injections. Dutch Advisory Group on Growth Hormone

    NARCIS (Netherlands)

    T.C.J. Sas (Theo); T. Vulsma (Thomas); W.J. Gerver; S.L.S. Drop (Stenvert); H.M. Reeser (Maarten); M. Jansen (Maarten); S.M.P.F. de Muinck Keizer-Schrama (Sabine); Th. Stijnen (Theo); A. van Teunenbroek (Arne); A.C.S. Hokken-Koelega (Anita); J.J.J. Waelkens (Johan); G.G. Massa; H.A. Delemarre-van de Waal (Henriette)

    1999-01-01

    textabstractOBJECTIVES: To study final height in girls with Turner's syndrome treated with once or twice daily injections of growth hormone (GH) in combination with low dose ethinyl oestradiol. DESIGN: Until final height was reached, the effect of fractionated

  3. Der Status des 'Mentalen' in kulturtheoretischen Handlungserklärungen. Zum Problem der Relation von Verhalten und Wissen nach Stephen Turner und Theodore Schatzki

    OpenAIRE

    Reckwitz, Andreas

    2000-01-01

    Der Artikel rekonstruiert und kommentiert die Versuche der US-amerikanischen Sozialtheoretiker Stephen P. Turner und Theodore R. Schatzki, den Status von 'kollektivem mentalem Wissen' in kulturtheoretischen Handlungserklärungen zu klären. Ausgangspunkt ist Turners Kritik am unreflektierten 'Mentalismus' vieler kulturtheoretischer Handlungserklärungen und seine Empfehlung eines Quasi-Behaviorismus als Gegenmodell. Foucaults und Geertz' 'Kultur als Text'-Ansätze und Schatzkis post-wittgensteini...

  4. Absence of autoantibodies connected to autoimmune polyendocrine syndrome type I and II and Addison's disease in girls and women with Turner syndrome

    Directory of Open Access Journals (Sweden)

    Kämpe Olle

    2007-12-01

    Full Text Available Abstract Background A disturbance in the immune system has been described in Turner syndrome (45,X, with an association to low levels of IgG and IgM and decreased levels of T- and B-lymphocytes. Also different autoimmune diseases have been connected to Turner syndrome (45,X, thyroiditis being the most common. Other autoimmune diseases seen are inflammatory bowel disease, insulin dependent diabetes mellitus, Addison's disease, rheumatoid arthritis, myasthenia gravis, vitiligo, alopecia, pernicious anaemia and hypoparathyroidism, but the association to Turner syndrome is not definite. Besides the typical features of Turner syndrome (short stature, failure to enter puberty spontaneously and infertility due to ovarian insufficiency ear problems are common. Otitis media and a progressive sensorineural hearing disorder are commonly seen. In the normal population there are known inner ear disorders related to autoimmune diseases. The aim of this study was to investigate patients with Turner syndrome regarding autoantibodies connected to the autoimmune disorders; autoimmune polyendocrine syndrome type I and II and Addison's disease, to screen for overlapping profile of autoantibodies. Blood samples from 110 Turner patients (7–65 years were investigated using in vitro transcription, translation and immunoprecipitation techniques regarding autoantibodies connected to autoimmune polyendocrine syndrome type I and II and Addison's disease (21-hydroxylase, 17α-hydroxylase, side-chain cleavage enzyme, aromatic L-amino acid decarboxylase, tyrosine hydroxylase and tryptophan hydroxylase. Results The autoantibodies investigated were not overrepresented among the Turner patients. Conclusion The autoimmune disorders associated with Turner syndrome do not seem to be of the same origin as Addison's disease, the type I or II autoimmune polyendocrine syndrome.

  5. Failure of Marfan anatomic criteria to predict risk of aortic dissection in Turner syndrome: necessity of specific adjusted risk thresholds.

    Science.gov (United States)

    Maureira, Juan-Pablo; Vanhuyse, Fabrice; Lekehal, Malik; Hubert, Thierry; Vigouroux, Charlène; Mattei, Marie-Françoise; Grandmougin, Daniel; Villemot, Jean-Pierre

    2012-05-01

    Patients with Turner syndrome are prompt to develop spontaneous acute aortic dissection following insidious aortic dilatation, with abnormal cardiovascular anatomy and consequently require specific guidelines for regular surveillance since they represent a subset of high-risk young patients. We report a rare and uncommon case of spontaneous acute aortic dissection in a 48-year old female patient with Turner syndrome who was not apparently eligible for a prophylactic surgery. A CT scan showed a Stanford type A aortic dissection and was urgently referred for surgical management. We operated on the patient under deep hypothermia (18°C) and circulatory arrest with a retrograde cerebroplegia as the primary entry tear was located in the arch. The postoperative course was uneventful and the patient was discharged at the eighth postoperative day. Following description of this case, special attention was paid to determine predisposing risk factors for aortic dissection to be specifically adjusted to TS patients.

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

    Science.gov (United States)

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

    2017-01-01

    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.

  7. RESULTS OF LONG-TERM THERAPY WITH GROWTH-HORMONE IN 2 DOSE REGIMENS IN TURNER SYNDROME

    NARCIS (Netherlands)

    NIENHUIS, HE; RONGENWESTERLAKEN, C; WIT, JM; OTTEN, BJ; KEIZERSCHRAMA, SMPFD; DRAYER, NM; DELEMARREVANDEWAAL, HA; VULSMA, T; OOSTDIJK, W; WAELKENS, JJJ

    1993-01-01

    Girls with Turner syndrome were divided according to age (group A 6-12 years, and group B 12-19 years) and human growth hormone (GH) dose regimen (A1 and B1, three injections/week; A2 and B2, six injections/week). All groups responded to GH, 24 IU/M2/week, with an increase in height velocity, though

  8. Síndrome de Turner – desfecho de uma gestação espontânea

    Directory of Open Access Journals (Sweden)

    Carla Antoniana Ferreira de Almeida Vieira

    2017-08-01

    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.

  9. Sexual functioning and partner relationships in women with turner syndrome: some empirical data and theoretical considerations regarding sexual desire.

    Science.gov (United States)

    Rolstad, Susanna Göthlin; Möller, Anders; Bryman, Inger; Boman, Ulla Wide

    2007-01-01

    The aim of this study was to describe marital status, sexual history, and sexual functioning in a group of women with Turner syndrome, and to compare the results with general Swedish population data. The sample consists of 57 women over 18 years of age. Data were collected from an interview, and using two self-report questionnaires: the McCoy Sexual Rating Scale and the Relationship Rating Scale (RS). Compared to population data, the women with Turner syndrome were less likely to have a partner and had had their sexual debut later. Single women differed more from the general population than did women with a partner, regarding sexual desire and sexual activity. Several women with a partner reported sexual problems, but unanimously reported being satisfied with their sex life and partner relationship. The level of sexual desire in women with Turner syndrome is discussed in relation to Levine's model of human sexual desire, where psychological and social motivational factors are considered in addition to a biologically based sexual drive (Levine, 1992).

  10. John Turner revisited: an intra-urban migration model for colonial-type cities in Latin America.

    Science.gov (United States)

    Schuurman, F J

    1986-01-01

    The author uses the intra-urban migration model developed by John Turner in the early 1960s to examine population movements in the city of Arequipa, Peru. Ways in which the model applies in the case of Arequipa are summarized, as are quantitative and qualitative differences between the model and the Arequipa study. The Turner model employs economic (industrialization level), demographic (level of rural-to-urban migration), and political (housing policy) criteria to distinguish a city's transitional phase. "According to these criteria Arequipa clearly belongs to the mid-transitional phase. The pattern of intra-urban migration, however, shows a mixture of Turner's mid and late transitional phases (e.g. center acts still as a reception area, but at the same time a major number of migrants settle directly in the periphery).... The town itself has a limited industrial development and hardly any municipal housing policy worth mentioning.... It is above all the demographic factor in combination with the town's morphology (a large colonial-type center, etc.) which in the case of Arequipa regulates the pattern of intra-urban migration." excerpt

  11. Interdisciplinarity in oro-maxillofacial dysmorphism rehabilitation of a patient with Turner syndrome. A clinical case report.

    Science.gov (United States)

    Jivănescu, Anca; Bratu, A Em; Naiche, Diana; Scurtu, Adina; Bratu, Cristina Dana

    2012-01-01

    Turner syndrome is a chromosomal disorder that manifests with short stature, gonadal dysfunction, hypothyroidism, congenital heart disease, and distinct craniofacial features including oro-maxillofacial dysmorphism. This paper presents a case of a 30-year-old female patient with Turner syndrome who sought dental care to improve the dental and facial morphology and restore the oral health. Detailed exobuccal examination revealed complex anomalies. Initial periodontal therapy and carious lesions treatment was followed by orthodontic treatment and prosthetic rehabilitation with two porcelain fused to metal fixed partial dental prostheses. Tooth whitening and restoration of the incisal edge of the anterior teeth was performed to complete the smile design improvement. The interdisciplinary approach pursued in this case resulted in successful oral rehabilitation with optimal treatment outcomes and high patient's satisfaction. Patients with Turner syndrome may present with complex morphologic oro-maxillofacial alterations that require individualized dental treatment plans. Appropriate interdisciplinary medical/dental treatment can lead to successful oral rehabilitation with a minimum of invasive procedures.

  12. Responses to falling lll: defense mechanisms used by women with Turner syndrome and variants

    Directory of Open Access Journals (Sweden)

    Vera Lúcia Soares Chvatal

    2009-01-01

    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

  13. Osteoporosis and fractures in Turner syndrome-importance of growth promoting and oestrogen therapy.

    Science.gov (United States)

    Landin-Wilhelmsen, K; Bryman, I; Windh, M; Wilhelmsen, L

    1999-10-01

    Turner syndrome (TS) is a chromosomal aberration (45,X) characterized by endogenous oestrogen deficiency and short stature. The aim was to study body composition, bone mineral density, fracture frequency, social and life style factors and biochemical bone markers, as well as hormones, in adults with TS in comparison with a female random population sample. Seventy women with TS responded to questionnaires. They underwent physical examination, bone mineral density measurement with Dual Energy X-ray Absorptiometry (DEXA) and blood sampling. Mean age was 31 +/- 12 (range 16-71) years. A random population sample of women from the WHO MONICA Project, Göteborg (25-64 years) served as controls (n = 740). Women with TS were shorter than the controls and had lower body weight and lean body mass (P < 0.0001). Body mass index and waist/hip circumference ratio were higher in TS (P < 0.0001). Osteoporosis was present in seven TS women, six above 45 years of age. None of these had received oestrogen substitution continuously. Fractures (all types) were reported by 11 (16%) TS women (six (50%) above 45 years) compared with 5% in the population sample (P < 0. 001). Four TS women with fractures had osteoporosis, all above 45 years of age. Osteoporosis and fractures did not differ between women with the 45,X karyotype and those with mosaicism. Impaired hearing was reported by 40%, and 73% wore glasses. Six percent among TS were smokers compared with 25% in the population (P < 0.001). TS women reported a lower degree of leisure time physical activity than controls (P < 0.001). Parathyroid hormone and osteocalcin were higher among TS (P < 0.02 and 0.001). Insulin-like growth factor-I was similar. Ninety-one percent of all TS had oestrogen substitution and 96% of TS below 25 years of age had received growth hormone treatment. Osteoporosis and fractures were common above, but not below, 45 years of age in Turner syndrome. It is probable that modern therapy, including growth promoting

  14. A case of 45,X/47,XXX mosaic Turner syndrome with limb length discrepancy.

    Science.gov (United States)

    Hishimura-Yonemaru, Nozomi; Okuhara, Koji; Takahashi, Nobuhiro; Tonoki, Hidefumi; Iizuka, Susumu; Tajima, Toshihiro

    2017-01-01

    Patients with Turner syndrome (TS) frequently show short stature and skeletal deformities, such as kyphosis and scoliosis. However, to the best of our knowledge, limb length discrepancy (LLD) has not yet been reported in patients with TS. The case of a 12-yr-old girl with 45,X/47,XXX mosaic TS showing LLD is herein presented. She was on GH therapy for short stature and was noted to have scoliosis in the standing position at a regular examination; however, the scoliosis became less evident in the supine position, which is indicative of LLD. The length of the left leg was 5.0 cm shorter than that of the right leg when measured. She was referred to orthopedics and underwent right distal femoral and right proximal tibial staple epiphysiodesis to shorten the abnormally long limb at 10 yr 6 mo of age. One year after the operation, the LLD decreased from 5.0 to 1.5 cm. During this period, GH was continued. LLD is a rare complication in TS, but when patients with TS show scoliosis in the standing position, re-evaluation for scoliosis in the supine position should be performed and the lengths of both legs should be measured.

  15. New approach to phenotypic variability and karyotype-phenotype correlation in Turner syndrome.

    Science.gov (United States)

    Miguel-Neto, Jamil; Carvalho, Annelise B; Marques-de-Faria, Antonia Paula; Guerra-Júnior, Gil; Maciel-Guerra, Andréa T

    2016-04-01

    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.

  16. Estudio citogenético de 38 pacientes con síndrome de turner

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    Alejandro Giraldo

    1983-12-01

    Full Text Available De 38 pacientes con síndrome de Turner, 20 presentaron el cariotipo clásico 45,X0 y una el mosaico 45,X0/46,XX. Las otras 17 pacientes mostraron diferentes anomalías estructurales: diez tenían una o dos líneas con isocromosomas de brazos largos, ocho de ellas con mosaicismo 45,X0; una paciente presentó 46,X, deI (Xp o 46,X,tel (Xq por tratarse de una falta total de brazos cortos; tres mostraron diferentes porcentajes de líneas monosómicas y anillos X: 45,X0/46,X.dXI; dos pacientes tenían anomalías estructurales d el cromosoma Y: 45,X/46, XY nf y 45.X0/46.X.idic (Yq y una paciente mostró 45,X0/46,X.f (X. Estas pacientes fueron remitidas para evaluación clínica y citogenetica al Grupo de Gen6tica del Instituto Nacional de Salud de Colombia, de 1977 a 1983. Se discuten algunas observaciones sobre el posible origen de las anomalías cromosómicas, la edad de los padres, las edades y motivos de consulta de las pacientes y los hallazgos clínicos

  17. Body mass index (BMI) in Turner Syndrome before and during growth hormone (GH) therapy.

    Science.gov (United States)

    Blackett, P R; Rundle, A C; Frane, J; Blethen, S L

    2000-02-01

    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.

  18. Impact of cognitive profile on social functioning in prepubescent females with Turner syndrome.

    Science.gov (United States)

    Lepage, Jean-François; Dunkin, Bria; Hong, David S; Reiss, Allan L

    2013-01-01

    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.

  19. Familial deletion of 18p associated with Turner like clinical features

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    Say, B.; Gopal Rao, V.V.N.; Harris, S. [H.A. Chapman Institute of Medical Genetics, Tulsa, OK (United States)] [and others

    1994-09-01

    The authors report the first occurrence to our knowledge of a familial deletion of the short arm of chromosome 18 in a mother and daughter. The proband is an 18-year-old female referred for chromosomal analysis because of mental retardation and short stature. She is the only offspring. Her birth weight was 3 pounds 10 ounces (below 5th percentile). As a child, she had delayed milestones. Her IQ is 69 and she is in classes for the educable mentally handicapped. Her height is 145.6 cm and weight 38.7 kg (both below 5th percentile). Physical examination revealed a low nuchal hairline. She has myopia. Chromosome analysis from peripheral blood lymphocytes revealed a 46,XX,del(18)(p11.21) karyotype. Since some of the same clinical features are also seen in the mother including short stature (157 cm), mental retardation, ocular problems like cataracts, exotropia and refractive error, chromosome analysis was performed which showed the same 46,XX,del(18)(p11.21) karyotype. A familial case like this has great implications in genetic counseling. Since the syndrome is not associated with sterility, the recurrence risk for the offspring is 50%. Patients with deletion (18p) syndrome are reported to have findings suggestive of Turner syndrome with varying degrees of mental retardation. We recommend that in patients with such clinical features associated with mental retardation, normal menstrual history and/or fertility, the possibility of deletion (18p) syndrome be considered.

  20. Care of girls and women with Turner syndrome: beyond growth and hormones

    Directory of Open Access Journals (Sweden)

    Caroline Culen

    2017-04-01

    Full Text Available Turner syndrome (TS, although considered a rare disease, is the most common sex chromosome abnormality in women, with an incident of 1 in 2500 female births. TS is characterized by distinctive physical features such as short stature, ovarian dysgenesis, an increased risk for heart and renal defects as well as a specific cognitive and psychosocial phenotype. Given the complexity of the condition, patients face manifold difficulties which increase over the lifespan. Furthermore, failures during the transitional phase to adult care result in moderate health outcomes and decreased quality of life. Guidelines on the optimal screening procedures and medical treatment are easy to find. However, recommendations for the treatment of the incriminating psychosocial aspects in TS are scarce. In this work, we first reviewed the literature on the cognitive and psychosocial development of girls with TS compared with normal development, from disclosure to young adulthood, and then introduce a psychosocial approach to counseling and treating patients with TS, including recommendations for age-appropriate psychological diagnostics. With this work, we aim to facilitate the integration of emphasized psychosocial care in state-of-the-art treatment for girls and women with TS.

  1. Genomic imprinting effects on cognitive and social abilities in prepubertal girls with Turner syndrome.

    Science.gov (United States)

    Lepage, Jean-François; Hong, David S; Hallmayer, Joachim; Reiss, Allan L

    2012-03-01

    Recent evidence suggests that the cognitive and social manifestations associated with Turner syndrome (TS) might be influenced by epigenetic factors in the form of genomic imprinting. However, due to small and heterogeneous samples, inconsistent results have emerged from these studies. The objective of this prospective study was to establish the impact of genomic imprinting on neurocognitive abilities and social functioning in young girls with TS. An extensive battery of neuropsychological assessments was administered to 65 children with TS who had never been exposed to estrogen treatment, 24 of whom had an X-chromosome from paternal origin (Xpat) and 41 from maternal origin (Xmat). The Wechsler scales of intelligence, the Motor-Free Visual Spatial test-3, the Wide Range Assessment of Visual Motor Ability, and the attention/executive domain of the NEPSY were used to assess cognitive abilities. Social functioning was assessed with the Social Responsiveness Scale and the Behavior Assessment System for Children-2. Results showed that although individuals with Xpat obtained lower scores than their counterparts with Xmat on most cognitive and social measures, only the Perceptual Reasoning Index of the intelligence scale yielded significant differences after correction for multiple comparisons. Overall, these results suggest that although some aspects of the neuropsychological profile of TS may be influenced by epigenetic factors, the sociocognitive phenotype associated with the disorder is not modulated by genomic imprinting.

  2. Loss of smell but not taste in adult women with Turner's syndrome and other congenital hypogonadisms.

    Science.gov (United States)

    Ros, Cristina; Alobid, Isam; Centellas, Silvia; Balasch, Juan; Mullol, Joaquim; Castelo-Branco, Camil

    2012-11-01

    To assess the impact of Turner's syndrome (TS) and other congenital hypogonadisms (OCH) on the sense of smell and taste. An analytical study of three independent cohorts was designed: patients affected by TS, OCH, and a control group of healthy women taking contraception. Gynaecological Endocrinology Unit and Smell Clinic in Rhinology Unit of Hospital Clinic of Barcelona. Thirty TS patients between 20 and 50 years of age receiving hormone replacement treatment (HT) were included as the exposed cohort; fourteen age-matched women with OCH taking HT were recruited; forty-three age-matched healthy controls receiving hormone contraception treatment were selected as the control group. This group was matched with an historical cohort of forty healthy women without contraception, used to validate BAST-24 in Hospital Clinic of Barcelona. Clinical history, presence of nasal symptoms, general physical examination, nasal endoscopy, and Barcelona Smell Test-24 (BAST-24) and gustometry were carried out on all patients. TS physical dysmorphology features, intensity of nasal symptoms and signs of nasal obstruction were collected. BAST-24 test included 24 odours to assess both sensory (detection, memory and forced choice) and sensitivity (intensity, irritability, freshness and pleasantness) odour characteristics, as well as 4 tastes to evaluate taste domains (detection and forced choice). Healthy women taking hormone contraception felt odours with more intensity (p=0.002) and less irritability (psmell memory (psmell but not of taste, compared to OCH and healthy controls taking contraception. Smell sensitivity was not affected. Copyright © 2012 Elsevier Ireland Ltd. All rights reserved.

  3. Hearing loss in adult women with Turner's syndrome and other congenital hypogonadisms.

    Science.gov (United States)

    Ros, Cristina; Tercero, Anna; Alobid, Isam; Balasch, Juan; Santamaria, Joan; Mullol, Joaquim; Castelo-Branco, Camil

    2014-02-01

    To define the patterns and causes of hearing decline associated to Turner's syndrome (TS). An observational study with three cohorts was designed: 31 TS patients, 15 women with other congenital hypogonadims (OCH) and 41 healthy age-matched women taking contraception. Microotoscopy, standard pure-tone audiometry brain auditory evoked potentials (BAEP) were performed to study hearing function. Up to 87% of TS subjects suffered from some degree of hearing loss (HL) in the audiograms, compared with 20% OCH and 27% controls. Sensorineural hearing loss (SNHL) was the most frequent type of hypoacusia found in TS group. BAEP study demonstrated that 61% of TS women showed HL compared to 20% in OCH patients. No significant differences in latencies, amplitudes, and interpeaks of waves I, III and V were found between TS and OCH, nor when compared to reference population. Worse results were observed among the oldest TS patients, those with pure monosomy or isochromosome, and those with a history of recurrent otitis. More than a half of TS females presented HL. SNHL is the most frequent pattern among middle-aged women with TS. Old age, karyotype and recurrent otitis are predisposition factors to produce HL, while oestrogens play a minor role.

  4. Psychological well-being in women with Turner syndrome: somatic and social correlates.

    Science.gov (United States)

    Boman, U Wide; Bryman, I; Möller, A

    2004-01-01

    Our aim was to examine possible somatic and social correlates to psychological well-being in adult women with Turner Syndrome (TS), including hormone replacement treatment Sixty-three women with a diagnosis of TS (mean age, 31.5 years) participated in a cross-sectional study, using interview data, ratings on the Psychological General Well-being (PGWB) Index, and data from medical examinations and medical records. Statistical analysis was performed by bivariate and multivariate analyses. Lack of sex hormones during adult life and the presence of hearing impairment were related to lower psychological well-being, as were higher age at diagnosis, higher age at menarche or induced bleeding, higher chronological age and retrospectively reported difficulties with school subjects. Age at diagnosis and difficulties with school subjects explained 25% of the variation in psychological well-being. This study has identified some correlates to psychological well-being in women with TS, which are important when considering the clinical management of adult women with TS.

  5. Women with Turner syndrome: psychological well-being, self-rated health and social life.

    Science.gov (United States)

    Boman, U W; Bryman, I; Halling, K; Möller, A

    2001-06-01

    Psychological well-being, self-rated health and social situation were investigated in a cross-sectional multidisciplinary study of 63 women with Turner syndrome (TS; mean age 31.5 years, range 18-59 years). The psychological examination included a semi-structured interview, and use of two standardized self-rating scales, the Psychological General Well-being Index (PGWB) and the Nottingham Health Profile (NHP). Psychological well-being and self-rated health were similar in the women with TS and Swedish female normative data, matched for age. However, the women with TS reported more social isolation than the normative group. Within the TS group, the oldest women reported more psychological distress and poorer health than the youngest. Those with impaired self-rated health reported more emotional distress. The women with TS were studying or in employment to the same degree as the general population, although fewer were cohabiting. In the interview, both negative and positive consequences of TS were reported. This study did not find any evidence for impaired psychological well-being, although it did indicate that women with TS experience more difficulties in the area of social and partner relationships.

  6. Hypothyroidism is common in turner syndrome: results of a five-year follow-up.

    Science.gov (United States)

    El-Mansoury, Mostafa; Bryman, Inger; Berntorp, Kerstin; Hanson, Charles; Wilhelmsen, Lars; Landin-Wilhelmsen, Kerstin

    2005-04-01

    Turner syndrome (TS) is caused by a sex chromosome aberration. The aim was to study the prevalence and incidence of thyroid disease in adults with TS. Women with TS (n = 91; mean age, 37.7 +/- 11 yr) were compared with an age-matched female random population sample (n = 228). At baseline, 15 (16%) TS women were treated for hypothyroidism, and elevated serum TSH was found in another eight (9%). As a result, hypothyroidism was more common in women with TS (25%) than in controls (2%; P < 0.0001). Serum free T4 was lower (P = 0.02), and serum TSH was higher (P < 0.0001) in TS women than in age-matched controls. Of all TS women with hypothyroidism, 10 (43%) had an elevated thyroid peroxidase antibody titer vs. 15 (22%) of those without hypothyroidism (P < 0.05), evenly distributed between the karyotype 45,X and mosaicism. A high body mass index, but not a family history or blood lipids, was associated with hypothyroidism in TS. After the 5-yr follow-up, an additional 11 (16%) developed hypothyroidism, of whom four (36%) had elevated thyroid peroxidase. Altogether, 34 (37%) TS women had hypothyroidism after the 5-yr follow-up. Autoimmune hypothyroidism was common, with an annual incidence of 3.2% in TS. Thyroid function should be checked regularly in TS.

  7. Selenium Status in Patients with Turner Syndrome: a Biochemical Assessment Related with Body Composition.

    Science.gov (United States)

    Pires, Liliane Viana; Siviero-Miachon, Adriana Aparecida; Spinola-Castro, Angela Maria; Pimentel, José Alexandre Coelho; Nishimura, Luciana Sigueta; Maia, Carla Soraya Costa; Cozzolino, Silvia Maria Franciscato

    2017-04-01

    Studies about selenium status in patients with Turner syndrome (TS) are non-existent in the literature. The aim of this study was to evaluate selenium status in patients with TS, while considering the different ages of the studied population and the relation with body composition. In total, 33 patients with TS were evaluated and grouped according to their developmental stages (children, adolescents, and adults). Selenium concentrations in their plasma, erythrocytes, urine, and nails were determined by using hydride generation atomic absorption spectrometry and erythrocyte glutathione peroxidase activity were measured by using Randox commercial kits. Additionally, height, weight, body fat percentage, waist circumference, and waist-height ratio were measured to characterize the patients. No differences in the selenium concentrations in the plasma, erythrocyte, urine, and nails or in the glutathione peroxidase activity were observed among the age groups (p > 0.05). The evaluated selenium levels were less than the established normal ones. The patients with larger waist circumference, body fat percentage, body mass index, and waist-height ratio showed lower glutathione peroxidase enzyme activity (p = 0.023). The present study shows that most patients with TS are deficient in selenium and that those with a greater accumulation of body fat have a lower GPx activity.

  8. Altered inorganic composition of dental enamel and dentin in primary teeth from girls with Turner syndrome.

    Science.gov (United States)

    Rizell, Sara; Kjellberg, Heidrun; Dietz, Wolfram; Norén, Jörgen G; Lundgren, Ted

    2010-04-01

    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.

  9. Slipped capital femoral epiphysis in a patient with Turner syndrome receiving growth hormone therapy.

    Science.gov (United States)

    Nasrallah, Mona P; Der-Boghossian, Asdghig H; Haidar, Rachid K

    2012-01-01

    To report a case of slipped capital femoral epiphysis in a young patient with Turner syndrome (TS) receiving growth hormone therapy and to emphasize the importance of keeping this orthopedic condition in mind during management of this patient group. Clinical, laboratory, and radiographic findings are presented, and risk factors for slipped capital femoral epiphysis are discussed. A child with TS presented for medical assessment because of a limp but with no history of trauma or febrile illness. Growth hormone therapy had been administered for 1 year because of her short stature. Physical examination and pelvic radiography of the patient showed the presence of bilateral slipped capital femoral epiphysis. She underwent bilateral pinning in situ, and growth hormone therapy was terminated. At follow-up after more than 2 years, no sequelae were noted. Patients with TS are at high risk for developing certain orthopedic conditions, such as slipped capital femoral epiphysis. Furthermore, slipped capital femoral epiphysis is a known complication of growth hormone therapy in growing children. A limp, hip pain, knee pain, or thigh pain might be a symptom of slipped capital femoral epiphysis in patients with TS, especially those receiving growth hormone therapy. Prompt recognition and treatment of this condition are important for prevention of sequelae.

  10. Ear and hearing problems in relation to karyotype in children with Turner syndrome.

    Science.gov (United States)

    Verver, E J J; Freriks, K; Thomeer, H G X M; Huygen, P L M; Pennings, R J E; Alfen-van der Velden, A A E M; Timmers, H J; Otten, B J; Cremers, C W R J; Kunst, H P M

    2011-05-01

    The aim of the study was to report otologic and audiologic characteristics in a group of children with Turner syndrome (TS) and correlate these findings to karyotype. Additionally, we give recommendations for the otologic care of these children. Sixty children (age 1.7-21.2 years) were included in this retrospective study. Medical history and karyotypes were recorded and otologic and audiologic evaluation was performed. A history of recurrent otitis media was reported in 41/60 (68%) children and 3/60 (5%) had suffered from cholesteatoma. Audiometric data in 56 children revealed that normal hearing was only present in 33/112 (29%) ears. All other ears 79/112 (71%) were classified in five different audiometric categories for hearing loss. Hearing thresholds in general appeared to be about 10-11 dB worse in children with a monosomy 45,X or isochromosome (both have a total deletion of the short (p) arm of the X-chromosome) compared to those having a mosaicism or structural anomaly (partial deletion, or total deletion in only a few cells). Our findings support the hypothesis that hearing can be affected by loss of the p-arm of the X-chromosome. It is for the first time that a relation between hearing problems and karyotype is statistically confirmed in a large group of children with TS. Copyright © 2010 Elsevier B.V. All rights reserved.

  11. Flower colour variation and chromosome numbers in the north western distributional area of Turners sidoides (Turneraceae

    Directory of Open Access Journals (Sweden)

    Viviana G. Solís Neffa

    2004-01-01

    Full Text Available In the context of the evolutionary studies that are being carried out in Turners sidoides autopolyploid complex (x= 7, a systematic survey was made in the northwestern area (Bolivia of its distribution. Six populations with salmon flowers and thirty five with yellow ones of the subsp. pinnatifida were found. The distribution of these populations is associated with climatic and spatial variables. The populations with salmon flowers live in the dry forests (Chaco Boreal Biogeographical Province, while yellow flowered populations occur in the inter-andean valleys (Boliviano-Tucumana Biogeographical Province. All the population studied are diploid. The results obtained support the allopatric diversification model of populations with yellow and salmon flowers at the diploid level, probably favoured by the orographic barriers and climatic changes that have arisen during the Andes development and Quaternary glaciations. Moreover, our analysis evidences that the north western area of T. sidoides constitutes an important centre of variation of the subsp. pinnatifida and the major centre of diploids hitherto detected

  12. Unusual Turner syndrome mosaic with a triple x cell line (47,X/49,XXX) in a western lowland gorilla (Gorilla gorilla gorilla).

    Science.gov (United States)

    Bradford, Carol M; Tupa, Lynn; Wiese, Debbie; Hurley, Timothy J; Zimmerman, Ralph

    2013-12-01

    A 29-yr-old female western lowland gorilla (Gorilla gorilla gorilla) was evaluated for low fertility and a midterm abortion. Laboratory testing included karyotyping, which revealed an unusual mosaicism for Turner syndrome with Triple X (47,X/49,XXX). This appears to be the first report of Turner syndrome in a great ape. In humans, Turner syndrome occurs in approximately 1 in 3,000 females, with half of those monosomic for the X chromosome. A small proportion is mosaic for a triple X cell line (3-4%). In humans, Turner syndrome is associated with characteristic phenotype including short stature, obesity, a broad chest with widely spaced nipples, webbing of the neck, and anteverted ears. This individual gorilla is significantly shorter in stature than conspecifics and is obese despite normal caloric intake. Individuals with Turner syndrome should also be screened for common health issues, including congenital heart defects, obesity, kidney abnormalities, hypertension, hypothyroidism, and diabetes mellitus. Animals with decreased fertility, multiple miscarriages, fetal losses, unusual phenotypes, or a combination of these symptoms should be evaluated for genetic abnormalities.

  13. Neoplasia in Turner syndrome. The importance of clinical and screening practices during follow-up.

    Science.gov (United States)

    Larizza, Daniela; Albanesi, Michela; De Silvestri, Annalisa; Accordino, Giulia; Brazzelli, Valeria; Maffè, Gabriella Carnevale; Calcaterra, Valeria

    2016-05-01

    Turmer syndrome (TS) patients show increased morbidity due to metabolic, autoimmune and cardiovascular disorders. A risk of neoplasia is also reported. Here, we review the prevalence of neoplasia in a cohort of Turner patients. We retrospectively evaluated 87 TS women. Follow-up included periodic ultrasound of the neck, abdominal and pelvic organs, dermatologic evaluation and fecal occult blood test. Karyotype was 45,X in 46 patients. During follow-up, 63 girls were treated with growth hormone, 65 with estro-progestin replacement therapy and 20 with L-thyroxine. Autoimmune diseases were present in 29 TS. A total of 17 neoplasms in 14 out of 87 patients were found. Six skin neoplasia, 3 central nervous system tumors, 3 gonadal neoplasia, 2 breast tumors, 1 hepatocarcinoma, 1 carcinoma of the pancreas and 1 follicular thyroid cancer were detected. Age at tumor diagnosis was higher in 45,X pts than in those with other karyotypes (p = 0.003). Adenomioma gallbladdder (AG) was detected in 15.3% of the patients, with a lower age in girls at diagnosis with an associated neoplasia in comparison with TS without tumors (p = 0.017). No correlation between genetic make up, treatment, associated autoimmune diseases and neoplastia was found. In our TS population an increased neoplasia prevalence was reported. A high prevalence of AG was also noted and it might be indicative of a predisposition to neoplasia. Further studies are needed to define the overall risk for neoplasia, and to determine the role of the loss of the X-chromosome and hormonal therapies. Copyright © 2016 Elsevier Masson SAS. All rights reserved.

  14. Growth hormone therapy in a girl with Turner syndrome and diabetes type 1 - case report.

    Science.gov (United States)

    Obara-Moszynska, Monika; Banaszak, Magdalena; Niedziela, Marek

    2015-01-01

    The studies indicate the complex etiology of abnormal glucose metabolism in the Turner syndrome (TS). In the light of these carbohydrate disorders a therapy with recombinant growth hormone (rGH) in TS may be associated with complications, as growth hormone has a diabetogenic potential. Perinatal history is unknown since the patient was adopted at the age of 4 years. At 11 years old, due to typical phenotype, TS was diagnosed. The karyotype was 45,X[43]/46,X,i(X)(q10)[7]. At the same age, basing on laboratory results, insulin dependent diabetes was diagnosed and the conventional insulin therapy was initiated. During the hospitalization, at the age of 12 years, the patient was 123.5cm (-4.4SD). At the same age rGH tre-atment was initiated, with the dose 0.045 mg/kg/d. After 3 months of therapy the height velocity rose to 8.2 cm/ year. At the age of 13 years, substitution with 17β-estradiol was started. After 3 years and 4 months the growth hormone treatment was stopped because of poor height velocity. The final height of the patient was 140 cm (-4,OSD). Two years after the end of rGH treatment the height was 141.2 cm. After termination of rGH treatment the need for daily insulin dose decreased from 50-60U/d to 38-44U/d. The decision of rGH therapy in TS with diabetes is certainly difficult. While starting the growth hormone treatment the clinician must keep in mind the risk of metabolic complications, but also the awareness that gives the patient a chance to improve the final height. In terms of the proper psycho-emotional development the reduction of growth deficit is very important. © Polish Society for Pediatric Endocrinology and Diabetology.

  15. Growth hormone therapy of Turner's syndrome: beneficial effect on adult height.

    Science.gov (United States)

    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

    1998-02-01

    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.

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

    Science.gov (United States)

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

    2017-03-01

    Turner syndrome (TS) is associated with subfertility and infertility. Nevertheless, an increasing number of women become pregnant through oocyte donation. The wish to conceive may be negatively influenced by the fear of cardiovascular complications. The aim was to investigate the wish to conceive and the concerns about cardiovascular complications during pregnancy in women with TS. The patient association for TS invited all members of ≥18 years old (n = 344) to complete a specifically developed, disease-specific questionnaire, including questions about fertility, wish to conceive, attempts and concerns. Results were compared with previously published results of this questionnaire in women with congenital heart disease. The questionnaire was completed by 89 women (median age 30.1 years, Q1-Q3 = 22.9-39.4). Of them, 51% had 45, X0-monosomy and 38% had ≥1 cardiac abnormality. Seventeen women (19%) had attempted to become pregnant and 12 of them succeeded to become pregnant. Women who had not undertaken attempts to conceive (81%), considered themselves mainly too young or had no partner. Of the total sample, 58% were concerned about the influence of pregnancy on their cardiovascular status. This was higher (75%) in the sample of women with TS and cardiac abnormalities, than in women with congenital heart disease from a previously published cohort (21%), (p concerns about pregnancy complications between women with TS who respectively had or had not attempted to become pregnant. Women with TS, especially those with cardiac abnormalities, show serious concerns about the risks pregnancy may have. Patients should be timely counseled and specifically asked about their concerns. Psychosocial care should be provided when necessary.

  17. Turner syndrome and associated problems in Turkish children: a multicenter study.

    Science.gov (United States)

    Yeşilkaya, Ediz; Bereket, Abdullah; Darendeliler, Feyza; Baş, Firdevs; Poyrazoğlu, Şükran; Küçükemre Aydın, Banu; Darcan, Şükran; Dündar, Bumin; Büyükinan, Muammer; Kara, Cengiz; Sarı, Erkan; Adal, Erdal; Akıncı, Ayşehan; Atabek, Mehmet Emre; Demirel, Fatma; Çelik, Nurullah; Özkan, Behzat; Özhan, Bayram; Orbak, Zerrin; Ersoy, Betül; Doğan, Murat; Ataş, Ali; Turan, Serap; Gökşen, Damla; Tarım, Ömer; Yüksel, Bilgin; Ercan, Oya; Hatun, Şükrü; Şimşek, Enver; Ökten, Ayşenur; Abacı, Ayhan; Döneray, Hakan; Özbek, Mehmet Nuri; Keskin, Mehmet; Önal, Hasan; Akyürek, Nesibe; Bulan, Kezban; Tepe, Derya; Emeksiz, Hamdi Cihan; Demir, Korcan; Kızılay, Deniz; Topaloğlu, Ali Kemal; Eren, Erdal; Özen, Samim; Abalı, Saygın; Akın, Leyla; Selver Eklioğlu, Beray; Kaba, Sultan; Anık, Ahmet; Baş, Serpil; Ünüvar, Tolga; Sağlam, Halil; Bolu, Semih; Özgen, Tolga; Doğan, Durmuş; Deniz Çakır, Esra; Şen, Yaşar; Andıran, Nesibe; Çizmecioğlu, Filiz; Evliyaoğlu, Olcay; Karagüzel, Gülay; Pirgon, Özgür; Çatlı, Gönül; Can, Hatice Dilek; Gürbüz, Fatih; Binay, Çiğdem; Baş, Veysel Nijat; Fidancı, Kürşat; Polat, Adem; Gül, Davut; Açıkel, Cengizhan; Demirbilek, Hüseyin; Cinaz, Peyami; Bondy, Carolyn

    2015-03-01

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

  18. Impaired body balance, fine motor function and hearing in women with Turner syndrome.

    Science.gov (United States)

    El-Mansoury, Mostafa; Barrenäs, Marie-Louise; Bryman, Inger; Hanson, Charles; Landin-Wilhelmsen, Kerstin

    2009-08-01

    Fractures are related to falling. Turner syndrome (TS) is associated with hypogonadism, osteoporosis and fractures and has been considered as a syndrome of early ageing. The aim was to study whether fine motor function (FM) and body balance (BB) were impaired and related to genotype, fractures, metabolic variables and hearing. Cross-sectional study. TS women, n = 75, mean age 30 years (range 16-59) and treated with oestrogen hormone replacement therapy (HRT) at the out-patient clinic, Sahlgrenska University Hospital, Göteborg, Sweden, and 31 healthy controls, mean age 37 years (range 24-63). Six FM and eight BB tests with open and closed eyes, respectively, were done. Bone mineral density was estimated with Dual energy X-ray Absorptiometry. Presence/absence of fractures was noted, blood samples were taken and audiometry was done in the TS women. TS women had poorer FM (27.4 +/- 6.0 vs. 32.8 +/- 2.2; P < 0.0001) and BB (28.0 +/- 8.1 vs. 34.7 +/- 2.4; P < 0.0001) than controls. FM was poorer in TS women with hearing aids compared to those without (P < 0.05). FM and BB were negatively correlated with age, waist : hip ratio and positively correlated with hearing, and bone mineral density, and BB was negatively correlated with physical activity in TS women. BB correlated negatively with age in controls. FM, BB and hearing function were poorer in 45,X, nonmosaics, than in 45,X/46,XX, mosaics. FM and BB were poorer in adult TS women on HRT than in controls. Higher age, hearing impairment, osteoporosis, abdominal obesity, a sedentary lifestyle and the TS per se were strong determinants, and mosaicism mitigated both fine motor function and BB in TS.

  19. Chromosomal mosaicism mitigates stigmata and cardiovascular risk factors in Turner syndrome.

    Science.gov (United States)

    El-Mansoury, Mostafa; Barrenäs, Marie-Louise; Bryman, Inger; Hanson, Charles; Larsson, Christina; Wilhelmsen, Lars; Landin-Wilhelmsen, Kerstin

    2007-05-01

    To study genotype-phenotype correlations in Turner syndrome (TS) regarding body composition, cardiovascular risk factors, stigmata and age at diagnosis vs. degree of mosaicism estimated as the percentage of 45,X and 46,XX cells. One hundred and twenty-six TS women, mean age 31 years, were examined by three specialists, who reported stigmata independent of each other. Dual energy X-ray absorptiometry (DXA) was used to measure bone mineral density (BMD). The karyotype was blinded. Fluorescence in situ hybridization (FISH) was performed on buccal cells. A random population sample served as controls. Forty-four per cent exhibited a 45,X karyotype and 56% a second-cell line, while 27% of all had a 45,X/46,XX mosaicism. Five 45,X cases with a conventional karyotype were 45,X/46,XX mosaic according to FISH. At diagnosis, 45,X cases were younger (P < 0.05) and had more stigmata per person (P < 0.01) than the mosaics. TS with marker chromosome X or Y, iso or ring, did not differ from 45,X in this aspect. The mosaics had higher BMD and SHBG and lower total cholesterol and FSH than TS with 45,X and did not differ compared with controls in terms of body mass index (BMI), waist/hip ratio, BMD, blood pressure, cholesterol, triglycerides, SHBG, diabetes or osteoporosis. The number of stigmata correlated positively to BMI, waist/hip ratio, cholesterol and %45,X and inversely to height and %46,XX according to FISH. Mosaicism seems to mitigate the TS phenotype and the cardiovascular risk factor profile. Mosaics were diagnosed 8 years later than 45,X cases. This emphasizes the necessity for a stricter genotype categorization not only in the clinic but also in research on TS than previously adopted.

  20. Impact of growth hormone therapy on quality of life in adults with turner syndrome.

    Science.gov (United States)

    Amundson, Emily; Boman, Ulla Wide; Barrenäs, Marie-Louise; Bryman, Inger; Landin-Wilhelmsen, Kerstin

    2010-03-01

    GH and/or oxandrolone are used to promote growth in Turner syndrome (TS). The aim of this study was to compare quality of life (QoL) in TS women with controls and determine the impact of growth promoting therapy on QoL in TS women. This was a cross-sectional, case-control study. The study was conducted at an outpatient clinic at Sahlgrenska University Hospital, Göteborg, Sweden. PATIENTS included 111 TS women (age range 18-59 yr) and 111 randomly selected, age-matched women (25-54 yr) from the World Health Organization Monitoring Trends and Determinants for Cardiovascular Disease project (Göteborg, Sweden) served as controls. QoL was estimated by the Psychological General Well-Being scale (anxiety, depressed mood, positive well-being, self-control, general health and vitality) and the Nottingham Health Profile (physical mobility, pain, sleep, energy, social isolation, and emotional reactions). TS women reported more social isolation than controls (P < 0.001). After age adjustment, significantly less pain (<0.05) was reported attributable to GH treatment within TS. No significant difference in any other subscales used could be shown. In TS, QoL was negatively affected by higher current age and age at diagnosis and positively affected by better body balance, fine motor function, and higher bone mineral density. Social isolation was more commonly reported in the whole TS cohort than in the population. Except for less pain, no significant impact on QoL attributable to GH treatment could be found, despite the mean +5.1 cm final height.

  1. Elevated liver enzymes in Turner syndrome during a 5-year follow-up study.

    Science.gov (United States)

    El-Mansoury, Mostafa; Berntorp, Kerstin; Bryman, Inger; Hanson, Charles; Innala, Eva; Karlsson, Anders; Landin-Wilhelmsen, Kerstin

    2008-03-01

    To study the prevalence and incidence of elevated liver enzymes and their relationship with body weight, metabolic factors and other diseases in Turner syndrome (TS). Five-year follow-up. Women with TS (n = 218, mean age 33 +/- 13, range 16-71 years) from outpatient clinics at university hospitals in Sweden. Fasting blood samples for aspartate (AST) and alanine aminotransferase (ALT), bilirubin, alkaline phosphatase (ALP), gamma-glutamyl transferase (GT), viral hepatitis serology and hepatic auto-antibodies, vitamin B12, blood glucose, lipids and hormones. Seventy-nine subjects (36%) had one or more liver enzyme levels higher than the reference level, the most prevalent being GT. Karyotype 45,X was present in 51% of all TS women and in 48% of those with elevated liver enzymes. Body weight, body mass index (BMI), total cholesterol, triglycerides, and apolipoproteins A and B at start were higher in TS women with elevated liver enzymes than in TS women with normal levels. At 5 years, AST, ALT and GT were increased and another 23% of patients had developed elevated liver enzymes, that is, 59% in total (36% + 23%), while in 6%, the elevated liver enzymes had been normalized and all 6% also had lowered cholesterol levels. Multivariate analysis showed that GT was correlated with total cholesterol; P = 0.0032 at start and P = 0.0005 at 5 years, independently of other factors. Liver biopsy in six TS women showed one cholangitis, one hepatitis C, two steatosis and two normal biopsies. Withdrawal of oestrogen substitution did not influence the liver enzymes. Pathological liver enzymes were common in TS women, with a prevalence of 36% at 33 years of age, an annual incidence over 5 years of 3.4%. There was no relation to karyotype, alcohol, viral hepatitis, E(2) or autoimmunity, but a connection with total serum cholesterol.

  2. Clorinda Matto de Turner (1852-1909) : representación y autorrepresentación : negociaciones para el progreso

    OpenAIRE

    Vargas Yábar, Miguel Gustavo

    2009-01-01

    El presente trabajo propone que la escritura de Clorinda Matto de Turner (1852-1909) conforma un complejo sistema de negociación entre la autora y los poderes hegemónicos que le son contemporáneos. Dicho sistema involucra estrategias (reciprocidad, renuncia y crítica moderada) y recursos (sentimen-talismo, realismo, naturalismo, etc.) orientados hacia la consecución de la modernización y el progreso del Perú y Latinoamérica. El trabajo, en consecuencia, consta de cuatro capítulos que desarrol...

  3. 47,XXX/45,X/46,XX mosaicism in a patient with Turner phenotype and spontaneous puberal development.

    Science.gov (United States)

    Brambila-Tapia, Aniel Jessica Leticia; Rivera, Horacio; García-Castillo, Herbert; Domínguez-Quezada, Maria Guadalupe; Dávalos-Rodríguez, Ingrid Patricia

    2009-11-01

    To describe a patient with infertility and phenotypic combination of Turner and triple-X syndrome related to mos 47,XXX/45X/46,XX karyotype. Case report. División de Genética, Centro de Investigación Biomédica de Occidente and Hospital de Ginecología y Obstetricia, CMNO, Instituto Mexicano del Seguro Social. The 24-year-old patient presented a phenotypic combination of Turner syndrome and X polysomy. She showed wide and short neck, low posterior hairline, cubitus valgus, bilateral shortening of the fourth and fifth metacarpals, multiple nevi, and müllerian anomalies but had spontaneous pubarche, thelarche, and menarche. Laboratory evaluations, imaging studies, ovarian biopsy, G-banding karyotype, and in situ fluorescence hybridization. Clinical and laboratory findings. A karyotype: mos 47,XXX/45X/46,XX was found in the cytogenetic studies, a bicornuate uterus in the ultrasonographic scan, and a normal ovarian profile in the laboratory tests. The infertility in the present case can be related to either bicornuate uterus or subclinical abortions due to aneuploid ova. Cytogenetic assessment provides important information regarding infertile patients with uterine factors and short stature.

  4. Six-year results of a randomized, prospective trial of human growth hormone and oxandrolone in Turner syndrome.

    Science.gov (United States)

    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

    1992-07-01

    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.

  5. Carbohydrate and lipid metabolism in Turner syndrome: effect of therapy with growth hormone, oxandrolone, and a combination of both.

    Science.gov (United States)

    Wilson, D M; Frane, J W; Sherman, B; Johanson, A J; Hintz, R L; Rosenfeld, R G

    1988-02-01

    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.

  6. Growth Hormone Treatment Increases Plasma Irisin Concentration in Patients with Turner Syndrome.

    Science.gov (United States)

    Wikiera, B; Zawadzka, K; Łaczmański, Ł; Słoka, N; Bolanowski, M; Basiak, A; Noczyńska, A; Daroszewski, J

    2017-02-01

    Irisin (Ir) deficiency may be a contributing factor in metabolic disease. This study aimed to investigate the effect of supraphysiological doses of recombinant human growth hormone (rhGH) on Ir plasma concentration in relation to metabolic disorders, including obesity and other components of metabolic syndrome. We studied 36 girls with Turner syndrome (mean age 8.2 years) treated with rhGH (0.05 mg/kg/day). Anthropometric data and fasting blood levels [e. g., Ir, insulin, glucose, glycated hemoglobin (HbA1c), IGF-1, IGFBP-3, cholesterol, insulin resistance (HOMA-IR), and β-cell function (HOMA-β)] were analyzed prior to and following rhGH therapy [mean (SD) follow-up of 1.47 (0.89) years]. Insulin sensitivity (Matsuda index) was calculated before and after the glucose load. Following rhGH therapy, an increase in IGF-1 [mean (SD) of 119.40 (62.47) ng/ml to 439.08 (209.91) ng/ml, p=0.000], Ir [2.10 (1.03) μg/ml to 2.48 (0.78) μg/ml, p=0.036], HOMA-IR [median (IQR) of 0.64 (0.45-1.30) to 0.92 (0.67-2.36), p=0.0206], and HOMA-β values [45.00 (27.69-72.00) to 81.53 (51.43-132.00), p=0.0447] were observed. Multiple regression analysis yielded no associations between Ir and metabolic and hormonal parameters before rhGH treatment; however, on rhGH, the model (R2=0.56, adjusted R2=0.45) showed positive associations between Ir and IGF-1 standard deviation score and HbA1c, and negative associations between Ir and fasting blood glucose, HDL-cholesterol, and triglycerides. Despite manifestation of insulin resistance, rhGH application had a positive effect on Ir regulation, and restored physiological conditions of lipid and glucose metabolism. © Georg Thieme Verlag KG Stuttgart · New York.

  7. Studying early lethality of 45,XO (Turner's syndrome embryos using human embryonic stem cells.

    Directory of Open Access Journals (Sweden)

    Achia Urbach

    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

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

    Science.gov (United States)

    Menke, Leonie A; Sas, Theo C J; van Koningsbrugge, Sophie H L; de Ridder, Maria A J; Zandwijken, Gladys R J; Boersma, Bart; Dejonckere, Philippe H; de Muinck Keizer-Schrama, Sabine M P F; Otten, Barto J; Wit, Jan M

    2011-09-01

    Oxandrolone (Ox) increases height gain but may also cause voice deepening in growth hormone (GH)-treated girls with Turner syndrome (TS). We assessed the effect of Ox on objective and subjective speaking voice frequency in GH-treated girls with TS. A multicenter, randomized, placebo (Pl)-controlled, double-blind study was conducted. One hundred thirty-three patients were included and treated with GH (1.33 mg/m2/d) from baseline, combined with Pl or Ox in a low (0.03 mg/kg/d) or conventional (0.06 mg/kg/d) dose from the age of 8 years and estrogens from the age of 12 years. Yearly from starting Ox/Pl until 6 months after discontinuing GH+Ox/Pl, voices were recorded and questionnaires were completed. At start, mean (±standard deviation [SD]) voice frequency SD score (SDS) was high for age (1.0±1.2, Pvoices tended to lower on GH+Ox 0.03 (P=0.09) and significantly lowered on GH+Ox 0.06 (P=0.007). At the last measurement, voice frequency SDS was still relatively high in GH+Pl group (0.6±0.7, P=0.002) but similar to healthy girls in both GH+Ox groups. Voice frequency became lower than -2 SDS in one patient (3%) on GH+Ox 0.03 and three patients (11%) on GH+Ox 0.06. The percentage of patients reporting subjective voice deepening was similar between the dosage groups. Untreated girls with TS have relatively high-pitched voices. The addition of Ox to GH decreases voice frequency in a dose-dependent way. Although most voice frequencies remain within the normal range, they may occasionally become lower than -2 SDS, especially on GH+Ox 0.06 mg/kg/d. Copyright © 2011 The Voice Foundation. Published by Mosby, Inc. All rights reserved.

  9. Final height in girls with Turner's syndrome treated with once or twice daily growth hormone injections. Dutch Advisory Group on Growth Hormone

    NARCIS (Netherlands)

    Sas, T. C.; de Muinck Keizer-Schrama, S. M.; Stijnen, T.; van Teunenbroek, A.; Hokken-Koelega, A. C.; Waelkens, J. J.; Massa, G. G.; Vulsma, T.; Gerver, W. J.; Reeser, H. M.; Delemarre-van de Waal, H. E.; Jansen, M.; Drop, S. L.

    1999-01-01

    To study final height in girls with Turner's syndrome treated with once or twice daily injections of growth hormone (GH) in combination with low dose ethinyl oestradiol. Until final height was reached, the effect of fractionated subcutaneous injections given twice daily was compared with once daily

  10. Puberty induction in Turner syndrome: Results of oestrogen treatment on development of secondary sexual characteristics, uterine dimensions and serum hormone levels

    NARCIS (Netherlands)

    Bannink, E.M.N.; Sassen, C. van; Buuren, S. van; Jong, F.H. de; Lequin, M.; Mulder, P.G.H.; Muinck Keizer-Schrama, S.M.P.F. de

    2009-01-01

    Background: Besides short stature, gonadal dysgenesis leading to a lack of oestrogen is one of the main characteristics of Turner syndrome (TS). In most TS girls, puberty is induced with exogenous oestrogens. Objective: To describe the pubertal development and uterine dimensions achieved by low-dose

  11. Body proportions during long-term growth hormone treatment in girls with Turner syndrome participating in a randomized dose-response trial

    NARCIS (Netherlands)

    T.C.J. Sas (Theo); W.J. Gerver; R. de Bruin (Rob); Th. Stijnen (Theo); S.M.P.F. de Muinck Keizer-Schrama (Sabine); T.J. Cole (Trevor); A. van Teunenbroek (Arne); S.L.S. Drop (Stenvert)

    1999-01-01

    textabstractTo assess body proportions in girls with Turner syndrome (TS) during long term GH treatment, height, sitting height (SH), hand (Hand) and foot (Foot) lengths, and biacromial (Biac) and biiliacal (Biil) diameters were measured in 68 girls with TS

  12. The effect of the weak androgen oxandrolone on psychological and behavioral characteristics in growth hormone-treated girls with Turner syndrome.

    NARCIS (Netherlands)

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

    2010-01-01

    The weak androgen oxandrolone (Ox) increases height gain in growth-hormone (GH) treated girls with Turner syndrome (TS), but may also give rise to virilizing side effects. To assess the effect of Ox, at a conventional and low dosage, on behavior, aggression, romantic and sexual interest, mood, and

  13. The effects of GH and hormone replacement therapy on serum concentrations of mannan-binding lectin, surfactant protein D and vitamin D binding protein in Turner syndrome

    DEFF Research Database (Denmark)

    Gravholt, Claus Højbjerg; Leth-Larsen, Rikke; Lauridsen, Anna Lis

    2004-01-01

    function. In the present study we examined whether GH or hormone replacement therapy (HRT) in Turner syndrome (TS) influence the serum concentrations of MBL and two other proteins partaking in the innate immune defence, surfactant protein D (SP-D) and vitamin D binding protein (DBP). DESIGN: Study 1...

  14. Long-term effects of oxandrolone treatment in childhood on neurocognition, wellbeing and social-emotional functioning in young adults with Turner syndrome

    NARCIS (Netherlands)

    Freriks, K.; Verhaak, C.M.; Sas, T.C.J.; Menke, L.A.; Wit, J.M.; Otten, B.J.; Muinck Keizer-Schrama, S.M.P.F. de; Smeets, D.F.C.M.; Netea-Maier, R.T.; Hermus, A.R.M.M.; Kessels, R.P.C.; Timmers, H.J.L.M.

    2015-01-01

    Turner syndrome (TS) is the result of (partial) absence of one X-chromosome. Besides short stature, gonadal dysgenesis and other physical aspects, TS women have typical psychological features. Since psychological effects of androgen exposure in childhood probably are long-lasting, we explored

  15. Long-term effects of oxandrolone treatment in childhood on neurocognition, quality of life and social-emotional functioning in young adults with Turner syndrome

    NARCIS (Netherlands)

    Freriks, K.; Verhaak, C.M.; Sas, T.C.; Menke, L.A.; Wit, J.M.; Otten, B.J.; Keizer-Schrama, S.M.; Smeets, D.F.C.M.; Netea-Maier, R.T.; Hermus, A.R.M.M.; Kessels, R.P.C.; Timmers, H.J.L.M.

    2015-01-01

    Turner syndrome (TS) is the result of (partial) absence of one X-chromosome. Besides short stature, gonadal dysgenesis and other physical aspects, TS women have typical psychological features. Since psychological effects of androgen exposure in childhood probably are long-lasting, we explored

  16. Coexisting diseases modifying each other’s presentation - lack of growth failure in Turner syndrome due to the associated pituitary gigantism

    Directory of Open Access Journals (Sweden)

    Dragović Tamara

    2016-01-01

    Full Text Available Introduction. Turner syndrome presents with one of the most frequent chromosomal aberrations in female, typically presented with growth retardation, ovarian insufficiency, facial dysmorphism, and numerous other somatic stigmata. Gigantism is an extremely rare condition resulting from an excessive growth hormone (GH secretion that occurs during childhood before the fusion of epiphyseal growth plates. The major clinical feature of gigantism is growth acceleration, although these patients also suffer from hypogonadism and soft tissue hypertrophy. Case report. We presented a girl with mosaic Turner syndrome, delayed puberty and normal linear growth for the sex and age, due to the simultaneous GH hypersecretion by pituitary tumor. In the presented case all the typical phenotypic stigmata related to Turner syndrome were missing. Due to excessive pituitary GH secretion during the period while the epiphyseal growth plates of the long bones are still open, characteristic stagnation in longitudinal growth has not been demonstrated. The patient presented with delayed puberty and primary amenorrhea along with a sudden appearance of clinical signs of hypersomatotropinism, which were the reasons for seeking medical help at the age of 16. Conclusion. Physical examination of children presenting with delayed puberty but without growth arrest must include an overall hormonal and genetic testing even in the cases when typical clinical presentations of genetic disorder are absent. To the best of our knowledge, this is the first reported case of simultaneous presence of Turner syndrome and gigantism in the literature.

  17. Unique unbalanced X;X translocation (Xq22;p11.2) in a woman with primary amenorrhea but without Ullrich-Turner syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Letterie, G.S. [Virginia Mason Medical Center, Seattle, WA (United States)

    1995-12-04

    This is a report of a patient with delayed puberty and a previously unreported translocation 46,X,-X,+der(X),t(X;X) (q22;p11.2) without any manifestations of Ullrich-Turner syndrome. The relationship of this unbalanced translocation to the critical region hypothesis is discussed. 6 refs., 3 figs.

  18. Numerical Magnitude Processing Impairments in Genetic Syndromes: A Cross-Syndrome Comparison of Turner and 22Q11.2 Deletion Syndromes

    Science.gov (United States)

    Brankaer, Carmen; Ghesquière, Pol; De Wel, Anke; Swillen, Ann; De Smedt, Bert

    2017-01-01

    Cross-syndrome comparisons offer an important window onto understanding heterogeneity in mathematical learning disabilities or dyscalculia. The present study therefore investigated symbolic numerical magnitude processing in two genetic syndromes that are both characterized by mathematical learning disabilities: Turner syndrome and 22q11.2 deletion…

  19. Anti-AMPA-Receptor Encephalitis Presenting as a Rapid-Cycling Bipolar Disorder in a Young Woman with Turner Syndrome.

    Science.gov (United States)

    Quaranta, Giuseppe; Maremmani, Angelo Giovanni Icro; Perugi, Giulio

    2015-01-01

    Background. Autoimmune encephalitis is a disorder characterised by the subacute onset of seizures, short-term memory loss, and psychiatric and behavioural symptoms. Initially, it was recognised as a paraneoplastic disorder, but recently a subgroup of patients without systemic cancer was identified. Case Description. We describe a 20-year-old woman with Turner syndrome presenting with a treatment-resistant rapid cycling bipolar disorder with cognitive impairment. She was diagnosed with anti-AMPA-receptor encephalitis. She showed marked improvement after starting memantine and valproic acid. Conclusion. This case description emphasises the importance of timely recognition of autoimmune limbic encephalitis in patients with psychiatric manifestations and a possible predisposition to autoimmune conditions, in order to rule out malignancy and to quickly initiate treatment.

  20. Three-year results of a randomized prospective trial of methionyl human growth hormone and oxandrolone in Turner syndrome.

    Science.gov (United States)

    Rosenfeld, R G; Hintz, R L; Johanson, A J; Sherman, B; Brasel, J A; Burstein, S; Chernausek, S; Compton, P; Frane, J; Gotlin, R W

    1988-08-01

    Seventy girls with Turner syndrome, 4 to 12 years of age, participated in a prospective, randomized study to determine the effects on growth of methionyl human growth hormone (met-hGH) or oxandrolone. Subjects were randomly assigned to receive either no treatment (control) or met-hGH (0.125 mg/kg three times per week), oxandrolone (0.125 mg/kg/day), or combination met-hGH plus oxandrolone. At the end of an initial period of 12 to 20 months, patients in the original control and oxandrolone groups were given combination met-hGH plus oxandrolone. At that time the dosage of oxandrolone was lowered to 0.0625 mg/kg/day. Sixty-five subjects have now completed the first 3 years of the study. Compared with the control growth rate for year 1 (3.8 cm/yr), significant increases in growth rate were seen in all 3 years of combination therapy (9.8, 7.4, and 6.1 cm/yr, respectively) and in the first 2 years of treatment with met-hGH alone (6.6, 5.4, and 4.6 cm/yr). When growth velocity was expressed as standard deviation for age in girls with Turner syndrome, significant increases relative to the control group for year 1 (-0.1 SD) were seen in all three years of both combination therapy and met-hGH alone (combination, +6.6, +4.3, +3.0 SD; met-hGH, +3.1, +2.0, +1.4 SD). After 3 years of treatment, predicted adult height by the method of Bayley-Pinneau increased 4.5 cm in the met-hGH group and 8.2 cm in the combination group.

  1. Respostas ao adoecimento: mecanismos de defesa utilizados por mulheres com síndrome de Turner e variantes The defenses employed by women with Turner syndrome: dealing with the disease

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    Vera Lúcia Soares Chvatal

    2009-01-01

    Full Text Available 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 teóricos para discussão no espírito da interdisciplinaridade. RESULTADOS: Essas mulheres apresentaram conflitos psicossociais como dificuldades de relacionamento interpessoal; sentimentos de resignação, raiva, impotência, desvalia e quadros de depressão. As defesas utilizadas foram: repressão, negação, anulação, fantasia, adaptação e sublimação. CONCLUSÕES:As mulheres com ST ou formas variantes têm de lidar com as intercorrências orgânicas e psíquicas da enfermidade provocando grande sofrimento que, frequentemente, dificultam uma inserção social mais sadia. Neste caso, os achados deste estudo poderão nortear acompanhamento psicológico ambulatorial concomitantemente ao protocolo clínico de rotina.OBJECTIVE:To understand the defenses employed by women suffering from Turner syndrome (TS and different ways of dealing with the disease. METHOD: Qualitative research with exploratory design, non-experimental. The instrument consisted of semi-conducted psychological interview, involving 13 women, undergoing semestral medical follow-up at the Women's Health Care Center, 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

  2. A {open_quotes}balanced{close_quotes} Y:16 translocation with the Y breakpoint just proximal to the Yq heterochromatin boundary associated with Turner-like neonatal lymphedema suggests the location of a potential anti-Turner gene

    Energy Technology Data Exchange (ETDEWEB)

    Erickson, R.P.; Hudgins, L. [Univ. of Arizona, Tucson, AZ (United States); Stone, J.F. [Southwest Biomedical Research Institute, Scottsdale, AZ (United States)] [and others

    1994-09-01

    A male patient with Turner-like hydrops in the newborn period (Bonnevie-Ullrich syndrome) was studied. The extensive nucchal cystic hygroma and hydrops resolved over several weeks. The karyotype was 46,X,t(Y;16)(q11.2;q24). The paternal karyotype was normal. Chromosome painting with the heterochromatic long arm repeat DYZ2 disclosed that all the hybridization was on the derivative 16. This was confirmed by chromosome painting with DYZ1, the other major Y long arm heterochromatic repeat, and DYZ3, the Y alphoid, centromeric repeat, which showed chromosomal separation of the 2 stained regions. A {open_quotes}FISHing trip{close_quotes} was performed using the Y YAC contig created in Dr. David Page`s laboratory. This disclosed 2 YACs located just proximal to the Y heterochromatin which {open_quotes}jumped{close_quotes} the translocation. The recent discovery of a candidate gene for the azoospermia factor (AZF) in this region suggests the possibility that there are several Y-expressed genes adjacent to the heterochromatin boundary as there are near the pseudoautosomal boundary.

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

    Directory of Open Access Journals (Sweden)

    Milena Flória-Santos

    2006-10-01

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

  4. The association with Turner syndrome significantly affects the course of Hashimoto's thyroiditis in children, irrespective of karyotype.

    Science.gov (United States)

    Aversa, Tommaso; Messina, Maria Francesca; Mazzanti, Laura; Salerno, Mariacarolina; Mussa, Alessandro; Faienza, Maria Felicia; Scarano, Emanuela; De Luca, Filippo; Wasniewska, Malgorzata

    2015-12-01

    Only few studies have investigated to now whether the association with Turner syndrome (TS) may affect the course of Hashimoto's thyroiditis (HT) in children. Aim of this study was to ascertain whether the presentation and long-term course of HT in TS children may be characterized by a peculiar and atypical pattern. The clinical and biochemical findings at HT diagnosis in 90 TS children (group A) were compared with those recorded in 449 girls with HT but without TS (group B); in group A patients, thyroid function tests were re-evaluated after a median time interval of 4.9 years. At HT diagnosis median TSH levels and the rate of cases presenting with a thyroid dysfunction picture were significantly lower in group A, irrespective of karyotype abnormalities. In group A only 34.8 % of the girls who had initially presented with euthyroidism remained euthyroid even at re-evaluation, whilst 67.7 % of those who had presented with subclinical hypothyroidism became overtly hypothyroid over time; also such evolutive pattern was irrespective of karyotype abnormalities. (1) In TS girls, HT presents with a milder hormonal pattern, which often deteriorates over time; (2) these biochemical features are not necessarily linked with a specific karyotype.

  5. Increased prevalence of bicuspid aortic valve in Turner syndrome links with karyotype: the crucial importance of detailed cardiovascular screening.

    Science.gov (United States)

    Klásková, Eva; Zapletalová, Jiřina; Kaprálová, Sabina; Šnajderová, Marta; Lebl, Jan; Tüdös, Zbyněk; Pavlíček, Jan; Černá, Jana; Mihál, Vladimír; Stará, Veronika; Procházka, Martin

    2017-03-01

    Bicuspid aortic valve (BAV) represents one of the strongest risk factors for aortic dissection in Turner syndrome (TS). An exact relation between the occurrence of BAV and a particular karyotype has not been established yet. The aim of this study was to determine the association between karyotype and prevalence of BAV. Sixty-seven TS patients aged between 6.6 and 32.5 years underwent cardiac magnetic resonance imaging (MRI) study. They were divided into four cytogenetic subgroups-45,X karyotype (n=27); 45,X/46,XX mosaicism (n=17); structural abnormalities of the X chromosome (n=10); and 45,X/structural abnormality of the X chromosome mosaicism (n=13). Prevalence of BAV and odds ratio (OR) compared with the general population in the whole study group, and statistical comparison of prevalences of BAV among the individual subgroups were determined. Prevalence of BAV in the whole study group was established as 28.4% [OR 208.3 (95% CI - 103.8-418.0); p-valuekaryotype had the highest prevalence of BAV - 40.7%, p-valuekaryotype significantly predisposed to BAV (p-value=0.05). The 45,X karyotype is associated with the highest prevalence of BAV. Also, the presence of the 45,X cell line in any mosaic karyotype increases the probability of BAV.

  6. Analysis of Turner syndrome patients within the Jordanian population, with a focus on four patients with Y chromosome abnormalities.

    Science.gov (United States)

    Daggag, H; Srour, W; El-Khateeb, M; Ajlouni, K

    2013-01-01

    This study presents findings in Turner syndrome (TS) patients from the Jordanian population, with focus on 4 patients with Y chromosomal abnormalities. From 1989 to 2011, 504 patients with TS stigmata were referred to our institute for karyotyping, resulting in 142 positive TS cases. Of these, 62 (43.7%) had the typical 45,X karyotype and the remaining individuals (56.3%) were found to be mosaics. Fifteen TS patients (10.5%) carried a structural abnormality of the Y chromosome and presented with the mosaic 45,X/46,XY karyotype. From these, 4 TS cases were investigated further. Karyotyping revealed that 1 patient carried a small supernumerary marker chromosome, whereas cytogenetic and molecular analyses showed that 3 patients carried 2 copies of the SRY gene. Further analysis by SRY sequencing revealed no mutations within the gene. The analyzed patients were found to be phenotypically either females or males, depending on the predominance of the cell line carrying the Y chromosome. This study demonstrates the importance of detailed cytogenetic analysis (such as FISH) in TS patients, and it also emphasizes the need for molecular analysis (such as PCR and sequencing) when fragments of the Y chromosome are present. © 2013 S. Karger AG, Basel.

  7. Cortical Brain Morphology in Young, Estrogen-Naive, and Adolescent, Estrogen-Treated Girls with Turner Syndrome

    Science.gov (United States)

    Lepage, Jean-Francois; Mazaika, Paul K.; Hong, David S.; Raman, Mira; Reiss, Allan L.

    2013-01-01

    Turner syndrome (TS) is a genetic condition that permits direct investigation of the complex interaction among genes, hormones, behavior, and brain development. Here, we used automated segmentation and surface-based morphometry to characterize the differences in brain morphology in children (n = 30) and adolescents (n = 16) with TS relative to age- and sex-matched control groups (n = 21 and 24, respectively). Our results show that individuals with TS, young and adolescent, present widespread reduction of gray matter volume, white matter volume and surface area (SA) over both parietal and occipital cortices bilaterally, as well as enlarged amygdala. In contrast to the young cohort, adolescents with TS showed significantly larger mean cortical thickness and significantly smaller total SA compared with healthy controls. Exploratory developmental analyses suggested aberrant regional brain maturation in the parahippocampal gyrus and orbitofrontal regions from childhood to adolescence in TS. These findings show the existence of abnormal brain morphology early in development in TS, but also suggest the presence of altered neurodevelopmental trajectories in some regions, which could potentially be the consequences of estrogen deficiency, both pre- and postnatally. PMID:22806268

  8. The role of short-term memory and visuo-spatial skills in numerical magnitude processing: Evidence from Turner syndrome.

    Directory of Open Access Journals (Sweden)

    Lucie Attout

    Full Text Available Most studies on magnitude representation have focused on the visual modality with no possibility of disentangling the influence of visuo-spatial skills and short-term memory (STM abilities on quantification processes. This study examines this issue in patients with Turner syndrome (TS, a genetic condition characterized by a specific cognitive profile frequently associating poor mathematical achievement, low spatial skills and reduced STM abilities. In order to identify the influence of visuo-spatial and STM processing on numerical magnitude abilities, twenty female participants with TS and twenty control female participants matched for verbal IQ and education level were administered a series of magnitude comparison tasks. The tasks differed on the nature of the magnitude to be processed (continuous, discrete and symbolic magnitude, on visuo-spatial processing requirement (no/high and on STM demands (low in simultaneous presentation vs. high in sequential presentation. Our results showed a lower acuity when participants with TS compared the numerical magnitudes of stimuli presented sequentially (low visuo-spatial processing and high STM load: Dot sequence and Sound sequence while no difference was observed in the numerical comparison of sets presented simultaneously. In addition, the group difference in sequential tasks disappeared when controlling for STM abilities. Finally, both groups demonstrated similar performance when comparing continuous or symbolic magnitude stimuli and they exhibited comparable subitizing abilities. These results highlight the importance of STM abilities in extracting numerosity through a sequential presentation and underline the importance of considering the impact of format presentation on magnitude judgments.

  9. Paternal X could relate to arithmetic function; study of cognitive function and parental origin of X chromosome in Turner syndrome.

    Science.gov (United States)

    Ergür, Ayça T; Ocal, Gönül; Berberoglu, Merih; Tekin, Mustafa; Kiliç, Birim G; Aycan, Zehra; Kutlu, Alev; Adiyaman, Pelin; Siklar, Zeynep; Akar, Nejat; Sahin, Aynur; Akçayöz, Duygu

    2008-04-01

    45,X Turner syndrome (TS) female subjects have visuospatial skill and social cognition deficits that may arise from X-linked imprinting. The aim of the present study was to compare phenotypic characteristics and neurocognitive pattern of 12 monosomic TS girls, according to X-linked imprinting. Microsatellite markers were used to determine the parental origin of the missing chromosome X. Wechsler Intelligence Scale for Children-Revised (WISC-R) was administered as measures of general intellectual functioning. The results were compared in TS patients with maternally derived X chromosome (Xm) and paternally derived X chromosome (Xp). Six out of 12 patients (50%) had Xm, and the other six (50%) had Xp chromosome. There was no difference in the total, verbal and performance IQ score between the TS subgroups with Xm and Xp. When the WISC-R subtest score patterns were compared, the mean arithmetic scores were significantly poorer in the Xm TS than in the Xp TS. In monosomic TS cases, paternal imprinting may predict arithmetic ability, on the other hand, reductionist consideration defined by genetic imprinting is not sufficient to confirm this. Further studies should be undertaken to clarify this situation.

  10. Feto portador de síndrome de turner e tetralogia de fallot associadas à elevação de alfafetoproteína materna Fetal turner syndrome and tetralogy of fallot associated with elevated maternal serum alpha-fetoprotein levels

    Directory of Open Access Journals (Sweden)

    Eduardo Vieira Neto

    1998-06-01

    Full Text Available A síndrome de Turner fetal e suas complicações, a hidropisia e o higroma cístico, podem produzir alteração dos marcadores bioquímicos de soro materno inicialmente utilizados no rastreamento de síndrome de Down e de defeitos de tubo neural (DTN. Os autores relatam o caso de uma gestante de 37 anos, que foi rastreada para síndrome de Down e DTN no início do 2º trimestre. Foi constatado aumento da alfafetoproteína de soro materno (MSAFP e o rastreamento foi considerado positivo para DTN. Foi realizado exame ultra-sonográfico tridimensional, que não demonstrou nenhuma anormalidade fetal ou placentária, caracterizando o caso como elevação idiopática de MSAFP. No 3º trimestre, a gravidez evoluiu com acentuada oligoidrâmnia e alteração do fluxo uteroplacentário, obrigando à instituição de terapia com corticosteróides e parto cesáreo na 34ª semana gestacional. O concepto do sexo feminino foi encaminhado à UTI neonatal, onde foram diagnosticadas tetralogia de Fallot e síndrome de Turner. Esse caso incentivou os autores a rever a literatura sobre marcadores bioquímicos de soro materno na síndrome de Turner e nas malformações cardíacas congênitas. Ao final, propõe-se um protocolo para elevação idiopática de MSAFP.Turner syndrome and its complications, hydrops and cystic hygroma, can produce alterations in maternal serum biochemical markers used in screening for Down's syndrome and neural tube defects (NTD. The authors report the case of a 37-year-old pregnant woman, screened for Down's syndrome and NTD in the second trimester of pregnancy. The maternal serum alpha-fetoprotein (MSAFP level was increased and the test was considered screen positive for NTD. A three-dimensional ultrasound investigation was performed, but no fetal or placental anomalies were found, indicating a case of unexplained increased msafp. In the third trimester severe oligohydramnios and disturbances in uteroplacental arterial circulation

  11. Restoring rocky intertidal communities: Lessons from a benthic macroalgal ecosystem engineer.

    Science.gov (United States)

    Bellgrove, Alecia; McKenzie, Prudence F; Cameron, Hayley; Pocklington, Jacqueline B

    2017-04-15

    As coastal population growth increases globally, effective waste management practices are required to protect biodiversity. Water authorities are under increasing pressure to reduce the impact of sewage effluent discharged into the coastal environment and restore disturbed ecosystems. We review the role of benthic macroalgae as ecosystem engineers and focus particularly on the temperate Australasian fucoid Hormosira banksii as a case study for rocky intertidal restoration efforts. Research focussing on the roles of ecosystem engineers is lagging behind restoration research of ecosystem engineers. As such, management decisions are being made without a sound understanding of the ecology of ecosystem engineers. For successful restoration of rocky intertidal shores it is important that we assess the thresholds of engineering traits (discussed herein) and the environmental conditions under which they are important. Copyright © 2017 Elsevier Ltd. All rights reserved.

  12. Aberrant parietal cortex developmental trajectories in girls with Turner syndrome and related visual-spatial cognitive development: a preliminary study.

    Science.gov (United States)

    Green, Tamar; Chromik, Lindsay C; Mazaika, Paul K; Fierro, Kyle; Raman, Mira M; Lazzeroni, Laura C; Hong, David S; Reiss, Allan L

    2014-09-01

    Turner syndrome (TS) arises from partial or complete absence of the X-chromosome in females. Girls with TS show deficits in visual-spatial skills as well as reduced brain volume and surface area in the parietal cortex which supports these cognitive functions. Thus, measuring the developmental trajectory of the parietal cortex and the associated visual-spatial cognition in TS may provide novel insights into critical brain-behavior associations. In this longitudinal study, we acquired structural MRI data and assessed visual-spatial skills in 16 (age: 8.23 ± 2.5) girls with TS and 13 age-matched controls over two time-points. Gray and white matter volume, surface area and cortical thickness were calculated from surfaced based segmentation of bilateral parietal cortices, and the NEPSY Arrows subtest was used to assess visual-spatial ability. Volumetric and cognitive scalars were modeled to obtain estimates of age-related change. The results show aberrant growth of white matter volume (P = 0.011, corrected) and surface area (P = 0.036, corrected) of the left superior parietal regions during childhood in girls with TS. Other parietal sub-regions were significantly smaller in girls with TS at both time-points but did not show different growth trajectories relative to controls. Furthermore, we found that visual-spatial skills showed a widening deficit for girls with TS relative to controls (P = 0.003). Young girls with TS demonstrate an aberrant trajectory of parietal cortical and cognitive development during childhood. Elucidating aberrant neurodevelopmental trajectories in this population is critical for determining specific stages of brain maturation that are particularly dependent on TS-related genetic and hormonal factors. © 2014 Wiley Periodicals, Inc.

  13. Selected clinical features of the head and neck in women with Turner syndrome and the 45,X/46,XY karyotype.

    Science.gov (United States)

    Frelich, Agnieszka; Frelich, Jakub; Jeż, Wacław; Irzyniec, Tomasz

    2017-01-01

    A 45,X/46,XY karyotype in women with Turner syndrome (TS) is very rare. The presence of a Y chromosome in the karyotype causes phenotypic differences and increased risk for neoplastic disease, compared to TS-women with other karyotypes. Our study addresses an issue: non-genital phenotypic differences between TS-patients with a Y-chromosome of their karyotype and TS-women without it. Results from patient history/physical examinations of the head and neck of eight TS-women and the 45,X/46,XY karyotype were compared with those observed in 164 TS-women and 30 controls. The heights of TS-groups: 142.5 ± 7.2 and 144.9 ± 7.2 cm were lower than controls (165.2 ± 6.6 cm). Participants were examined from 1995 to 2014. Among 28 study parameters, 15 were more frequently observed in TS women with the 45,X/46,XY karyotype compared to controls. Only abnormalities in the oral cavity and a history of childhood lymphoedema, differed significantly in the TS groups. With respect to the head and neck, the patient history and physical examination results of TS-women and the 45,X/46,XY karyotype and TS and other karyotypes revealed similar differences compared to controls. Compared to others TS patients, 45,X/46,XY individuals might more frequently have oral cavity soft tissue abnormalities and more rarely a history of childhood lymphoedema. (Endokrynol Pol 2017; 68 (1): 47-52).

  14. Whole-Exome Sequencing for Diagnosis of Turner Syndrome: Toward Next-Generation Sequencing and Newborn Screening.

    Science.gov (United States)

    Murdock, David R; Donovan, Frank X; Chandrasekharappa, Settara C; Banks, Nicole; Bondy, Carolyn; Muenke, Maximilian; Kruszka, Paul

    2017-05-01

    Turner syndrome (TS) is due to a complete or partial loss of an X chromosome in female patients and is not currently part of newborn screening (NBS). Diagnosis is often delayed, resulting in missed crucial diagnostic and therapeutic opportunities. This study sought to determine if whole-exome sequencing (WES) as part of a potential NBS program could be used to diagnose TS. Karyotype, chromosomal microarray, and WES were performed on blood samples from women with TS (n = 27) enrolled in the Personalized Genomic Research study at the National Institutes of Health. Female control subjects (n = 37) and male subjects (n = 27) also underwent WES. Copy number variation was evaluated using EXCAVATOR2 and B allele frequency was calculated from informative single nucleotide polymorphisms. Simulated WES data were generated for detection of low-level mosaicism and complex structural chromosome abnormalities. We detected monosomy for chromosome X in all 27 TS samples, including 1 mosaic for 45,X/46,XX and another with previously unreported material on chromosome Y. Sensitivity and specificity were both 100% for the diagnosis of TS with no false-positive or false-negative results. Using simulated WES data, we detected isochromosome Xq and low-level mosaicism as low as 5%. We present an accurate method of diagnosing TS using WES, including cases with low-level mosaicism, isochromosome Xq, and cryptic Y-chromosome material. Given the potential use of next-generation sequencing for NBS in many different diseases and syndromes, we propose WES can be used as a screening test for TS in newborns.

  15. Anthropometric findings from birth to adulthood and their relation with karyotpye distribution in Turkish girls with Turner syndrome.

    Science.gov (United States)

    Sari, Erkan; Bereket, Abdullah; Yeşilkaya, Ediz; Baş, Firdevs; Bundak, Rüveyde; Aydın, Banu Küçükemre; Darcan, Şükran; Dündar, Bumin; Büyükinan, Muammer; Kara, Cengiz; Adal, Erdal; Akıncı, Ayşehan; Atabek, Mehmet Emre; Demirel, Fatma; Çelik, Nurullah; Özkan, Behzat; Özhan, Bayram; Orbak, Zerrin; Ersoy, Betül; Doğan, Murat; Ataş, Ali; Turan, Serap; Gökşen, Damla; Tarım, Ömer; Yüksel, Bilgin; Ercan, Oya; Hatun, Şükrü; Şimşek, Enver; Ökten, Ayşenur; Abacı, Ayhan; Döneray, Hakan; Özbek, Mehmet Nuri; Keskin, Mehmet; Önal, Hasan; Akyürek, Nesibe; Bulan, Kezban; Tepe, Derya; Emeksiz, Hamdi Cihan; Demir, Korcan; Kızılay, Deniz; Topaloğlu, Ali Kemal; Eren, Erdal; Özen, Samim; Demirbilek, Hüseyin; Abalı, Saygın; Akın, Leyla; Eklioğlu, Beray Selver; Kaba, Sultan; Anık, Ahmet; Baş, Serpil; Unuvar, Tolga; Sağlam, Halil; Bolu, Semih; Özgen, Tolga; Doğan, Durmuş; Çakır, Esra Deniz; Şen, Yaşar; Andıran, Nesibe; Çizmecioğlu, Filiz; Evliyaoğlu, Olcay; Karagüzel, Gülay; Pirgon, Özgür; Çatlı, Gönül; Can, Hatice Dilek; Gürbüz, Fatih; Binay, Çiğdem; Baş, Veysel Nijat; Fidancı, Kürşat; Gül, Davut; Polat, Adem; Acıkel, Cengizhan; Cinaz, Peyami; Darendeliler, Feyza

    2016-04-01

    To evaluate the anthropometric features of girls with Turner syndrome (TS) at birth and presentation and the effect of karyotype on these parameters. Data were collected from 842 patients with TS from 35 different centers, who were followed-up between 1984 and 2014 and whose diagnosis age ranged from birth to 18 years. Of the 842 patients, 122 girls who received growth hormone, estrogen or oxandrolone were excluded, and 720 girls were included in the study. In this cohort, the frequency of small for gestational age (SGA) birth was 33%. The frequency of SGA birth was 4.2% (2/48) in preterm and 36% (174/483) in term neonates (P < 0.001). The mean birth length was 1.3 cm shorter and mean birth weight was 0.36 kg lower than that of the normal population. The mean age at diagnosis was 10.1 ± 4.4 years. Mean height, weight and body mass index standard deviation scores at presentation were -3.1 ± 1.7, -1.4 ± 1.5, and 0.4 ± 1.7, respectively. Patients with isochromosome Xq were significantly heavier than those with other karyotype groups (P = 0.007). Age at presentation was negatively correlated and mid-parental height was positively correlated with height at presentation. Mid-parental height and age at presentation were the only parameters that were associated with height of children with TS. The frequency of SGA birth was found higher in preterm than term neonates but the mechanism could not be clarified. We found no effect of karyotype on height of girls with TS, whereas weight was greater in 46,X,i(Xq) and 45,X/46,X,i(Xq) karyotype groups. © 2016 Wiley Periodicals, Inc.

  16. Efficacy of estrogen replacement therapy (ERT) on uterine growth and acquisition of bone mass in patients with Turner syndrome.

    Science.gov (United States)

    Nakamura, Tomomi; Tsuburai, Taku; Tokinaga, Aya; Nakajima, Izumi; Kitayama, Reiko; Imai, Yuichi; Nagata, Tomoko; Yoshida, Hiroshi; Hirahara, Fumiki; Sakakibara, Hideya

    2015-01-01

    Estrogen replacement therapy (ERT) is necessary for uterine development and bone mass acquisition in women with Turner syndrome (TS) suffering from ovarian insufficiency. However, adequate ERT regimens have not yet been established. The aim of this study was to evaluate the efficacy of ERT for both uterine development and bone mass acquisition. One hundred TS patients from Yokohama City University Hospital (88 with primary amenorrhea (PA) and 12 patients with spontaneous menstrual cycles (MC)) were enrolled after obtaining consent. Clinical profiles, uterine length (UL) measured by ultrasonic examination, and bone mineral density (BMD) of the lumbar vertebrae (L2-4) assessed by DEXA were evaluated. At the time of the first visit, the ULs of patients in the PA group were significantly shorter than those in the MC group. After receiving ERT, there were no significant differences in UL between patients with PA and MC. Forty-seven patients for whom the ERT initiation age was known were investigated to clarify the influence on BMD. The results showed that the BMD in the late initiation (18 years or older) group at the latest visit (0.770 ± 0.107 g/cm2: n = 16) was significantly lower than that in the early initiation (under 18 years) group (0.858 ± 0.119 g/cm2: n = 21) or the MC group (0.941 ± 0.118 g/cm2: n = 10). No significant differences were seen between the early initiation and MC group. ERT was effective in increasing UL and BMD. However, early initiation of ERT is necessary to increase BMD.

  17. A 6-year Follow-up survey of health status in middle-aged women with Turner syndrome.

    Science.gov (United States)

    Fjermestad, Krister W; Naess, Eva E; Bahr, David; Gravholt, Claus H

    2016-09-01

    Studies suggest younger women with Turner syndrome (TS) have good quality of life. Less is known about everyday functioning in adults with TS. In a 6-year follow-up study, multiple areas of functioning were compared between TS women and controls. Women with TS and controls were mailed a self-report survey 6 years after a baseline study. Fifty-seven women with TS (M age 40·6 ± 11·1 years) and 101 controls (M age 38·8 ± 10·6 years, ns) responded. Measures of background information, experienced life strain and presence/impact of health conditions were developed for this study. The QPS Nordic measured perceived workload challenges. The LiSat-9 measured life satisfaction. The Rosenberg Self-Esteem Scale measured self-esteem. More TS women lived alone, fewer had biological children, and more had adoptive children. TS women reported fewer sex partners and less sexual confidence. Controls had higher education. There was no difference in employment status. More TS women received disability pensions. TS women reported their work as more physically challenging, less positively challenging and requiring less knowledge skills. TS women experienced more life strain in school, adolescence and late working life. Controls reported higher overall life satisfaction, with no difference between samples on specific domains. TS women reported lower self-esteem. For TS women only, physical health at baseline predicted length of education and mental health at baseline predicted self-esteem. Women with TS face more challenges than controls on several domains of functioning. Early physical and mental health may influence later educational achievement and self-esteem for women with TS. © 2016 John Wiley & Sons Ltd.

  18. Phenotype in girls and women with turner syndrome: Association between dysmorphic features, karyotype and cardio-aortic malformations.

    Science.gov (United States)

    Noordman, Iris; Duijnhouwer, Anthonie; Kapusta, Livia; Kempers, Marlies; Roeleveld, Nel; Schokking, Michiel; Smeets, Dominique; Freriks, Kim; Timmers, Henri; van Alfen-van der Velden, Janiëlle

    2018-01-12

    Turner syndrome (TS) is a genetic disorder characterized by the (partial) absence or a structural aberration of the second sex chromosome and is associated with a variety of phenotypes with specific physical features and cardio-aortic malformations. The objective of this study was to gain a better insight into the differences in dysmorphic features between girls and women with TS and to explore the association between these features, karyotype and cardio-aortic malformations. This prospective study investigated 14 dysmorphic features of TS girls and women using a checklist. Three major phenotypic patterns were recognized (severe phenotype, lymphatic phenotype and skeletal phenotype). Patient data including karyotype and cardio-aortic malformations (bicuspid aortic valve (BAV) and aortic coarctation (COA)) were collected. Associations between the prevalence of dysmorphic features, karyotype and cardio-aortic malformations were analysed using chi 2 -test and odds ratios. A total of 202 patients (84 girls and 118 women) were analysed prospectively. Differences in prevalence of dysmorphic features were found between girls and women. A strong association was found between monosomy 45,X and the phenotypic patterns. Furthermore, an association was found between COA and lymphatic phenotype, but no association was found between karyotype and cardio-aortic malformations. This study uncovered a difference in dysmorphic features between girls and women. Monosomy 45,X is associated with a more severe phenotype, lymphatic phenotype and skeletal phenotype. All patients with TS should be screened for cardio-aortic malformations, because in contrast to previous reports, karyotype and cardio-aortic malformations showed no significant association. Copyright © 2018. Published by Elsevier Masson SAS.

  19. Karyotype-specific ear and hearing problems in young adults with Turner syndrome and the effect of oxandrolone treatment.

    Science.gov (United States)

    Verver, Eva J J; Freriks, Kim; Sas, Theo C J; Huygen, Patrick L M; Pennings, Ronald J E; Smeets, Dominique F C M; Hermus, Ad R M M; Menke, Leonie A; Wit, Jan M; Otten, Barto J; van Alfen-van der Velden, Janiëlle A E M; de Muinck Keizer-Schrama, Sabine M P F; Topsakal, Vedat; Admiraal, Ronald J C; Timmers, Henri J L M; Kunst, Henricus P M

    2014-10-01

    To evaluate karyotype-specific ear and hearing problems in young-adult patients with Turner syndrome (TS) and assess the effects of previous treatment with oxandrolone (Ox). Double-blind follow-up study. University hospital. Sixty-five TS patients (mean age, 24.3 yr) previously treated with growth hormone combined with placebo, Ox 0.03 mg/kg per day, or Ox 0.06 mg/kg per day from the age of 8 years and estrogen from the age of 12 years. Ear examination was performed according to standard clinical practice. Air- and bone conduction thresholds were measured in decibel hearing level. We compared patients with total monosomy of the short arm of the X chromosome (Xp), monosomy 45,X and isochromosome 46,X,i(Xq), with patients with a partial monosomy Xp, mosaicism or other structural X chromosomal anomalies. We assessed the effect of previous Ox treatment. Sixty-six percent of the patients had a history of recurrent otitis media. We found hearing loss in 66% of the ears, including pure sensorineural hearing loss in 32%. Hearing thresholds in patients with a complete monosomy Xp were about 10 dB worse compared with those in patients with a partial monosomy Xp. Air- and bone conduction thresholds were not different between the placebo and Ox treatment groups. Young-adult TS individuals frequently have structural ear pathology, and many suffer from hearing loss. This indicates that careful follow-up to detect ear and hearing problems is necessary, especially for those with a monosomy 45,X or isochromosome 46,X,i(Xq). Ox does not seem to have an effect on hearing.

  20. Screening for celiac disease among patients with Turner syndrome in Brasília, DF, midwest region of Brazil Triagem para doença celíaca em pacientes com síndrome de Turner em Brasília, DF, região centro-oeste do Brasil

    Directory of Open Access Journals (Sweden)

    Maria do Carmo Sorci Dias

    2010-09-01

    Full Text Available CONTEXT: Several studies have demonstrated a higher prevalence of celiac disease (CD among females with Turner syndrome when compared to the general population. Nevertheless, there is no record in literature concerning this investigation among Brazilian patients. OBJECTIVE: To assess the prevalence of CD among a group of Brazilian patients with Turner syndrome. METHODS: Fifty-six females with Turner syndrome and on gluten-containing diet were screened for CD utilizing immunoglobulin A antiendomysium (IgA-EMA and immunoglobulin A anti-tissue transglutaminase (IgA-tTG antibody assays. Additionally, they were genotyped for CD human leukocyte antigen (CD-HLA predisposing alleles. Patients showing positivity in serological testing were offered to perform small intestine biopsy for histological confirmation. RESULTS: Mean age at diagnosis of Turner syndrome was 5.5 ± 4.4 years; mean age at screening for CD was 17.0 ± 9.3 years (from 10 months of age to 52 years. Two girls were positive for IgA-EMA and IgA-tTG, presented predisposing HLA-DQ2 alleles and both had the diagnosis of CD confirmed by jejunal biopsy. CONCLUSION: The 3.6% prevalence of biopsy-proven CD among this group of females with Turner syndrome is 10 times higher than the one among females from the general population of the same geographical area. This result provides additional support to an association between these two disorders and restates that girls and women with Turner syndrome represent a high risk population for developing CD.CONTEXTO: Alguns estudos têm demonstrado maior prevalência de doença celíaca entre mulheres com síndrome de Turner, quando comparadas com a população geral. Entretanto, não há registro na literatura desta investigação em pacientes brasileiras. OBJETIVO: Avaliar a prevalência de doença celíaca entre um grupo de pacientes brasileiras com síndrome de Turner. MÉTODOS: Cinquenta e seis pacientes com síndrome de Turner recebendo dieta contendo

  1. Farmacogenética do tratamento do hormônio de crescimento em pacientes com síndrome de Turner

    OpenAIRE

    Adriana Farrant Braz

    2013-01-01

    A resposta individual ao tratamento com hormônio de crescimento recombinante humano (rhGH) na síndrome de Turner (ST) é muito variável. A falta de individualização da dose pode justificar a variabilidade de respostas e os resultados insatisfatórios de algumas pacientes mesmo quando diagnosticadas e tratadas em condições ideais. Como a resposta ao tratamento com rhGH reflete fatores genéticos e não genéticos, o objetivo do presente estudo é avaliar a influência de fatores genéticos no tratamen...

  2. Variedad de la presentación citogenética en el síndrome de Turner, prenatal y postnatal

    OpenAIRE

    Saldarriaga,Wilmar; Valencia,Mariana; Fandiño-Losada,Andrés; Ruiz,Fabián Andrés; Isaza,Carolina

    2014-01-01

    Antecedentes: El síndrome de Turner (ST) es causado por la ausencia total o parcial del cromosoma X y posee una gran variedad en su presentación citogenética. Objetivos: Determinar la variedad de presentación citogenética y la existencia de diferencias entre los casos diagnosticados in útero y los de diagnóstico postnatal, en pacientes con ST en dos laboratorios de referencia de Cali, Colombia. Métodos: Se realizó un estudio observacional descriptivo de corte transversal, se incluyeron pacien...

  3. Los libros misceláneos y la emergencia de la escritora profesional: Juana Manuela Gorriti y Clorinda Matto de Turner

    OpenAIRE

    Beatriz Ferrús Antón

    2013-01-01

    Juana Manuela Gorriti y Clorinda Matto de Turner, dos de las primeras escritoras profesionales de América Latina, publicaron libros misceláneos. Éstos son el síntoma de una época, donde la mujer se incorpora como profesional al mundo de la prensa. El objeto de este artículo es analizar estos libros, que han sido objeto del olvido crítico, prestando atención a tres elementos: los diferentes géneros que los conforman, el modo en que se imagina en ellos la "nación" y las "imágenes de mujer" que ...

  4. Adult height in Turner syndrome girls after long-term growth hormone treatment Talla adulta en pacientes con síndrome de Turner tratadas con hormona de crecimiento a largo plazo

    Directory of Open Access Journals (Sweden)

    Analía Morín

    2009-10-01

    Full Text Available We studied the adult height (AH outcome, and factors likely to influence it, in Turner Syndrome (TS girls treated with growth hormone (GH. A total of 25 TS girls treated with GH were compared with 10 TS girls not treated with GH. The percentage of girls who achieved normal third percentile was determined. Projected AH (PAH was calculated according to height standard deviation score (HSDS at the beginning of the treatment. Gain in height was determined as: AH - pretreatment PAH. The percentage of girls who achieved target range (midparental height±2 SD was determined. Multiple linear regression models were fitted on baseline variables- chronological age (CA, midparental height (MPH and HSDS; and treatment variablesduration of oestrogen-free GH therapy and duration of GH therapy+oestrogens. As for baseline data: median CA was 13.0 years (5.6-15.8. Mean HSDS was 0.25±1.1 SDS. PAH was 139.2±5.6 cm. MPH was 160.0±5.0 cm. As for follow up data: Median CA at onset oestrogens was 15.1 years (13.2-16.6. Median duration of GH therapy was 3.8 years (2.1-10.3. Median oestrogen-free GH period was 2.0 years (0.7-7.8, and median GH+oestrogens period, 1.8 years (1.0-3.2. Adult height: Mean AH was 150.4±7.0 cm in treated patients and 140.8±7.2 cm in the group not treated with GH (p=0.001. Fourteen (56% girls achieved normal third percentile compared with an initially predicted 1 (4%. Gain in height was 11.2±3.7 cm. Thirteen (59% girls reached an AH within target range. HSDS at the beginning of the treatment was the variable most strongly related to AH and duration of oestrogen-free GH period was the variable most strongly related to gain in height.Se estudió la talla adulta (TA y los factores que pudieran influenciarla en niñas con síndrome de Turner (ST tratadas con hormona de crecimiento (HC. Se compararon 25 pacientes con ST tratadas con HC y 10 niñas no tratadas. Se determinó: el porcentaje de niñas que alcanzó el tercer percentilo de la curva

  5. Assessment of the most effective part of echelle laser-induced plasma spectra for further classification using Czerny-Turner spectrometer

    Science.gov (United States)

    Pořízka, Pavel; Klus, Jakub; Prochazka, David; Vítková, Gabriela; Brada, Michal; Novotný, Jan; Novotný, Karel; Kaiser, Jozef

    2016-10-01

    The objective of this work was to assess a part of echelle Laser-Induced Plasma spectra (ranging from 200 to 1000 nm) that could be most effectively employed for rocks classification. Therefore, a 60 nm wide spectral window mask was iteratively moved over the broadband echelle spectra. Each created narrow artificial spectral windows (60 nm) was used for the classification of rock samples using various Multivariate Data Analysis (MVDA) algorithms, reaching more than 99% of the overall accuracy in certain cases. Afterwards, the Czerny-Turner spectrometer (having higher sensitivity compared to the echelle spectrometer) was aligned to the a priori selected and the most effective spectral regions and rocks samples were re-measured. Consequently the MVDA analyses were utilized again, providing also satisfying classification results yielding more than 99% of the overall accuracy. Measurements of 28 sedimentary ores (certified reference materials) were done utilizing commercially available X-Trace device (AtomTrace), where spectrometers in both configurations (echelle and Czerny-Turner) were exploited.

  6. Human 45,X fibroblast transcriptome reveals distinct differentially expressed genes including long noncoding RNAs potentially associated with the pathophysiology of Turner syndrome.

    Directory of Open Access Journals (Sweden)

    Shriram N Rajpathak

    Full Text Available Turner syndrome is a chromosomal abnormality characterized by the absence of whole or part of the X chromosome in females. This X aneuploidy condition is associated with a diverse set of clinical phenotypes such as gonadal dysfunction, short stature, osteoporosis and Type II diabetes mellitus, among others. These phenotypes differ in their severity and penetrance among the affected individuals. Haploinsufficiency for a few X linked genes has been associated with some of these disease phenotypes. RNA sequencing can provide valuable insights to understand molecular mechanism of disease process. In the current study, we have analysed the transcriptome profiles of human untransformed 45,X and 46,XX fibroblast cells and identified differential expression of genes in these two karyotypes. Functional analysis revealed that these differentially expressing genes are associated with bone differentiation, glucose metabolism and gonadal development pathways. We also report differential expression of lincRNAs in X monosomic cells. Our observations provide a basis for evaluation of cellular and molecular mechanism(s in the establishment of Turner syndrome phenotypes.

  7. Pregnancy after oocyte donation in 45, X Turner syndrome women, complicated by gestational diabetes and polyhydramnios. Case report and mini-review of literature.

    Science.gov (United States)

    Czyzyk, Adam; Podfigurna-Stopa, Agnieszka; Katulski, Krzysztof; Breborowicz, Grzegorz H; Genazzani, Andrea R; Meczekalski, Blazej

    2016-08-01

    Patients suffering from Turner syndrome (TS) demonstrate characteristic clinical features, with a short stature and gonadal dysgenesis causing infertility in most patients. Spontaneous pregnancies in women with TS are quite rare and pregnancy outcomes involving an increased risk of miscarriage and stillbirths are observed. In this case report, we present a 28 years old pregnant woman with the diagnosis of TS. Due to hypergonadotrophic hypogonadism, she was proposed an in vitro fertilization (IVF) program with an oocyte donor from unrelated anonymous women. After the second transfer, implantation occurred. In the 24th week of gestation, gestational diabetes class 1 was diagnosed. In the 31st week of gestation, polyhydramnios was diagnosed, although other parameters were reassuring. Considering the polyhydramnios, along with the diagnosis of Turner syndrome in the mother, we decided to perform an elective cesarean section. Subsequently, a healthy term male was born. For most women with the diagnosis of TS, the only way to become pregnant is through oocyte donation. The aim of this work was to characterize the course of pregnancy in TS patient and review literature addressing this issue.

  8. Fatores associados a atraso no diagnóstico da síndrome de Turner Investigación de factores asociados a retraso en el diagnóstico del síndrome de Turner Variables associated with diagnostic delay in Turner syndrome

    Directory of Open Access Journals (Sweden)

    Jamil Miguel Neto

    2011-03-01

    Full Text Available OBJETIVO: Investigar as possíveis razões do atraso no diagnóstico da síndrome de Turner (ST, ou seja, aquele realizado após a idade em que se pode estabelecer o atraso puberal. MÉTODOS: Estudo transversal com obtenção de dados dos prontuários de 29 pacientes com ST diagnosticadas com mais de dois anos, entre 2004 e 2007. Foram comparados antecedentes pessoais e familiares e dados de exame físico das pacientes diagnosticadas com menos de 13 anos (limite a partir do qual se pode caracterizar atraso puberal em meninas com os daquelas diagnosticadas após os 13 anos por meio dos testes t de Student e exato de Fisher. RESULTADOS: Não houve diferenças significativas quanto à estatura materna e da própria paciente, história de afecções associadas (consideradas individualmente, escolaridade dos pais, recorrência familiar de baixa estatura, presença de cada sinal dismórfico isoladamente e total de sinais observados. Os dois grupos diferiram quanto à presença de ao menos uma afecção sugestiva dessa síndrome (associada ao diagnóstico mais precoce e ao número de irmãos (maior no diagnóstico tardio e associado à menor escolaridade materna. CONCLUSÕES: O diagnóstico precoce relacionou-se mais à presença de alguma das afecções associadas à ST (possivelmente determinando-se encaminhamento a serviços de maior complexidade do que a sinais dismórficos. Há indicações de que déficit de crescimento menos evidente, dificuldade dos médicos em reconhecer anomalias sugestivas dessa síndrome e determinantes socioeconômicos contribuam para o atraso no diagnóstico. É necessário enfatizar na formação pediátrica o reconhecimento do espectro clínico dessa síndrome e ampliar os serviços públicos de genética.OBJETIVO: Investigar las posibles razones del retraso en el diagnóstico del síndrome de Turner (ST, es decir, aquél realizado después de la edad en que se puede establecer retraso puberal. MÉTODOS: Estudio

  9. Toxicity of a secondary-treated sewage effluent to marine biota in Bass Strait, Australia: development of action trigger values for a toxicity monitoring program.

    Science.gov (United States)

    Adams, Merrin S; Stauber, Jennifer L; Binet, Monique T; Molloy, Robert; Gregory, David

    2008-01-01

    Melbourne Water's Eastern Treatment Plant (ETP) produces a secondary-treated sewage effluent which is chlorinated and discharged into Bass Strait at Boags Rocks, Victoria, Australia. Disappearance of the sensitive brown seaweed Hormosira banksii from rock platforms immediately adjacent to the shore-line discharge was identified in the early 1990s. Subsequently, Melbourne Water and CSIRO undertook an environmental impact assessment and review of land and marine effluent disposal options, which included ambient water quality monitoring, biological monitoring, bioaccumulation studies and toxicity testing of existing effluent to assess the nature and magnitude of the environmental effects. This paper presents data from the toxicity monitoring programs since 2001. Chronic toxicity testing using macroalgal germination and cell division (H. banksii), microalgal growth rate (Nitzschia closterium) and scallop larval development (Chlamys asperrima), confirmed that ammonia was the major cause of effluent toxicity. Results from this toxicity monitoring program were used to develop action trigger values for toxicity for each species, which were then used in a refined monitoring program in 2005-2007. An upgrade of the ETP is in progress to improve nitrification/denitrification in order to reduce ammonia concentrations and the toxicity of the effluent. Toxicity testing with a simulated upgraded effluent confirmed that ammonia concentrations and toxicity were reduced. Estimated "safe" dilutions of effluent, calculated using species sensitivity distributions, decreased from 1:140-300 for existing ETP effluent to 1:20 for nitrified effluent, further confirming that treatment improvements should reduce the impact on marine biota in the vicinity of the discharge.

  10. Turner Syndrome (For Teens)

    Science.gov (United States)

    ... with TS may have learning problems, particularly in math. Many also struggle with tasks requiring spatial skills, ... you think you might need help. Keep a journal or diary in which you can record your ...

  11. Turner Syndrome: Other FAQs

    Science.gov (United States)

    ... NICHD Research Information Find a Study More Information Preeclampsia and Eclampsia About NICHD Research Information Find a ... of the Director Director's Corner Office of Administrative Management (OAM) Office of Communications (OC) Office of Global ...

  12. Age-related perception of stature, acceptance of therapy, and psychosocial functioning in human growth hormone-treated girls with Turner's syndrome.

    Science.gov (United States)

    Lagrou, K; Xhrouet-Heinrichs, D; Heinrichs, C; Craen, M; Chanoine, J P; Malvaux, P; Bourguignon, J P

    1998-05-01

    This study evaluated the perception of stature, acceptance of therapy, and psychosocial functioning in relation to age at onset and time on treatment during 2 yr of GH therapy in 31 girls with Turner's syndrome grouped by age (group A: 3.7-5.8 yr, n = 9; group B: 7.2-11.8 yr, n = 13; group C: 12.5-16.4 yr, n = 9). The growth response after 2 yr was significant in the 3 groups when calculated in terms of growth norms for untreated Turner girls (mean increase in height SD score: +1.2, +1.5, and +1.1, respectively). The effect was less marked in terms of growth norms for normal girls, particularly in group B (+0.5 SD score). Height was perceived as a problem by most patients, except in the youngest girls at the start of treatment (group A) and in the majority of the adolescents after 2 yr of GH therapy (group C), without evidence of relation to growth response during therapy. The GH injections were fairly well accepted by all patients, except those younger than 6 yr. In all patients, expected adult height was unrealistic and became more realistic with age, whereas no consistent changes were observed in relation to growth response to GH therapy. The Child Behavior Checklist revealed elevated mean scores at the behavioral subscales of attention problems (group A and B), social problems, withdrawal, and anxiety-depression (most obviously in group B). No significant changes were seen during GH therapy. In group C, an elevated mean social problem score at the Youth Self Report and a low mean social self-esteem score at the Self-Esteem Inventory were observed before therapy and showed a significant improvement during 2 yr of GH treatment. These results, however, might be biased due to an increase in social desirability during therapy. We conclude that the perception of height, acceptance of GH therapy, and psychosocial functioning in girls with Turner's syndrome show important differences between age groups, with only slight changes observed during GH therapy.

  13. Air Flow Modeling in the Wind Tunnel of the FHWA Aerodynamics Laboratory at Turner-Fairbank Highway Research Center

    Energy Technology Data Exchange (ETDEWEB)

    Sitek, M. A. [Argonne National Lab. (ANL), Argonne, IL (United States). Transportation Research and Analysis Computing Center (TRACC) Energy Systems Division; Lottes, S. A. [Argonne National Lab. (ANL), Argonne, IL (United States). Transportation Research and Analysis Computing Center (TRACC) Energy Systems Division; Bojanowski, C. [Argonne National Lab. (ANL), Argonne, IL (United States). Transportation Research and Analysis Computing Center (TRACC) Energy Systems Division

    2017-09-01

    Computational fluid dynamics (CFD) modeling is widely used in industry for design and in the research community to support, compliment, and extend the scope of experimental studies. Analysis of transportation infrastructure using high performance cluster computing with CFD and structural mechanics software is done at the Transportation Research and Analysis Computing Center (TRACC) at Argonne National Laboratory. These resources, available at TRACC, were used to perform advanced three-dimensional computational simulations of the wind tunnel laboratory at the Turner-Fairbank Highway Research Center (TFHRC). The goals were to verify the CFD model of the laboratory wind tunnel and then to use versions of the model to provide the capability to (1) perform larger parametric series of tests than can be easily done in the laboratory with available budget and time, (2) to extend testing to wind speeds that cannot be achieved in the laboratory, and (3) to run types of tests that are very difficult or impossible to run in the laboratory. Modern CFD software has many physics models and domain meshing options. Models, including the choice of turbulence and other physics models and settings, the computational mesh, and the solver settings, need to be validated against measurements to verify that the results are sufficiently accurate for use in engineering applications. The wind tunnel model was built and tested, by comparing to experimental measurements, to provide a valuable tool to perform these types of studies in the future as a complement and extension to TFHRC’s experimental capabilities. Wind tunnel testing at TFHRC is conducted in a subsonic open-jet wind tunnel with a 1.83 m (6 foot) by 1.83 m (6 foot) cross section. A three component dual force-balance system is used to measure forces acting on tested models, and a three degree of freedom suspension system is used for dynamic response tests. Pictures of the room are shown in Figure 1-1 to Figure 1-4. A detailed CAD

  14. Assessment of pulsed DC electric field to guide downstream migrating sea lamprey in experimental flume at USGS Conte Anadromous Fish Lab, Turners Falls, MA (December 2013)

    Science.gov (United States)

    Miehls, Scott M.; Johnson, Nicholas; Haro, Alexander J.

    2017-01-01

    This is a tabular data set that contains records of water velocity, depth, temperature and trial information such as start and stop times and date for experimental trials testing the effect of an electric field on the movement patterns and distribution of juvenile sea lamprey moving downstream in an experimental flume. Distribution is recorded for each individual lamprey as presence (1) or absence (0) in a series of downstream collection nets positions laterally across the flume. The data is formatted as comma delimited and contains no special characters. The trails were conducted during December 2 through December 15, 2013 in a 6 meter wide experimental flume at the Conte Anadromous Fish Research Lab in Turners Falls, MA.

  15. The Evolution of Thyroid Function after Presenting with Hashimoto Thyroiditis Is Different between Initially Euthyroid Girls with and Those without Turner Syndrome.

    Science.gov (United States)

    Wasniewska, Malgorzata; Salerno, Mariacarolina; Corrias, Andrea; Mazzanti, Laura; Matarazzo, Patrizia; Corica, Domenico; Aversa, Tommaso; Messina, Maria Francesca; De Luca, Filippo; Valenzise, Mariella

    2016-01-01

    To prospectively investigate, during a 5-year follow-up, whether the prognosis of thyroid function with Hashimoto thyroiditis (HT) is different in euthyroid girls with Turner syndrome (TS) than in euthyroid girls without TS. In 66 TS girls and 132 non-TS girls with euthyroid HT and similar thyroid functional test results at HT diagnosis, we followed up the evolution of thyroid status over time. At the end of follow-up, the TS girls exhibited higher TSH levels, lower fT4 levels, and lower prevalence rates of both euthyroidism and subclinical hypothyroidism, but higher prevalence rates of both overt hypothyroidism and hyperthyroidism, irrespective of the karyotype. An association with TS is able to impair the long-term prognosis of thyroid function in girls with HT. Such an effect occurs irrespective of thyroid functional test results at HT diagnosis and is not necessarily linked with a specific karyotype. © 2016 S. Karger AG, Basel.

  16. SCIENTIFIC EVENTS OF THE TURNER SCIENTIFIC AND RESEARCH INSTITUTE FOR CHILDREN’S ORTHOPEDICS AS A FORM OF CONTINUOUS MEDICAL EDUCATION FOR PEDIATRIC TRAUMATOLOGISTS

    Directory of Open Access Journals (Sweden)

    Karina S. Solovyova

    2017-03-01

    Full Text Available The experience of the Turner Scientific and Research Institute for Children's Orthopedics in educational activities for improvement of the professional knowledge of pediatric physicians was represented. The target audience of the continuous medical education include traumatologists, pediatric surgeons, and doctors of related specialties of Russia that are involved in diagnosis, treatment, and rehabilitation of children with injuries, congenital and acquired diseases of the musculoskeletal system. Since 1986, the Institute has organized 28 all-Russian scientific and practical conferences on topical issues of traumatology and orthopedics of pediatric age in 22 different cities across the country. In the interest of the institute, the school of pediatric orthopedists is constantly working for district orthopedists of children's polyclinics of St. Petersburg, and regular monothematic seminars are performed with the participation of leading Russian experts and visiting lecturers from abroad. These scientific and practical activities improve the professional skills of doctors and help them improve the provision of specialized care to children.

  17. Epilepsia e síndrome de turner apresentação de um caso e revisão da literatura

    Directory of Open Access Journals (Sweden)

    P. C. Trevisol-Bittencourt

    1990-09-01

    Full Text Available Henry Turner descreveu, em 1938, síndrome caracterizada por infantilismo sexual, pescoço alado e cubitus valgus. Disgenesia gonadal foi acrescentada à síndrome nos anos subsequentes e o critério exigido para sua confirmação diagnostica é a demonstração de cariótipo anormal, no qual é inexistente uma porção ou todos os de um cromossoma X. Ainda que nos dias atuais haja muita informação geral disponível sobre a síndrome de Turner, em relação a suas possíveis complicações neurológicas há inexplicável negligência. Nesta comunicação revemos o caso de uma paciente com esta síndrome, que desenvolveu epilepsia severa a partir dos 16 anos de idade. Em complementação, revisão das publicações sobre o assunto nos últimos 20 anos, com ênfase às alterações neurológicas associadas à condição, é apresentada. O constante aparecimento de malformações extracranianas, muitas das quais estando empírica e freqüentemente combinadas a anomalias no SNC, bem como a incidência relativamente alta de deficits nestas pacientes, parecem justificar a hipótese de que em certa porcentagem de casos, uma malformação do SNC, não necessariamente de tipo vascular, poderá ser parte ainda não descrita da síndrome.

  18. Growth hormone therapy of Turner syndrome: the impact of age of estrogen replacement on final height. Genentech, Inc., Collaborative Study Group.

    Science.gov (United States)

    Chernausek, S D; Attie, K M; Cara, J F; Rosenfeld, R G; Frane, J

    2000-07-01

    Clinical trials of recombinant human GH therapy in Turner syndrome that began more than a decade ago show that GH accelerates the linear growth rate. Several studies indicate that final height is also improved, although the magnitude of the increase has been debated. The age at which feminization is induced could be an important factor in determining the patient's ultimate growth response. To test this, 60 patients from a large (n = 117), previously unreported, clinical trial of GH treatment were randomly assigned to begin conjugated estrogens at either 12 or 15 yr of age. The 60 patients were all less than 11 yr of age at entry (mean, 9.5 yr) and received 0.375 mg/kg x week of GH for nearly 6 yr on a daily or three times weekly regimen. Height gain was calculated by comparing the study patients' final or near final heights to their pretreatment projected heights as well as to those of a separate set of age-matched, historical control patients. Patients in whom estrogen treatment was delayed until age 15 yr gained an average of 8.4 +/- 4.3 cm over their projected height, whereas those starting estrogen at 12 yr gained only 5.1 +/- 3.6 cm, on the average (P < 0.01). Analysis of the interval data showed that growth was stimulated for approximately 2 yr after estrogen initiation, but then declined in association with bone age advancement. Patients who were older than 11 yr at entry (n = 57) all initiated estrogen 1 yr after beginning GH and showed a mean gain in adult height of 4.7 cm, similar to those given estrogen at age 12 yr. Multivariate analysis revealed that the number of years of GH therapy before estrogen treatment was a strong factor in predicting height gained, indicating that the timing of estrogen introduction is an important determinant of final height in this cohort of GH-treated patients with Turner syndrome matched for baseline age and other characteristics.

  19. A unique case of Turner syndrome accompanying prolactinoma and unexpected elongated styloid process: Clinical and cone-beam computed tomographic features

    Energy Technology Data Exchange (ETDEWEB)

    Evlice, Burcu; Tatli, Ufuk; Yazicioglu, Iffet; Oztunc, Haluk [Faculty of Dentistry, Cukurova University, Adana (Turkey); Evlice, Ahmet [Faculty of Medicine, Cukurova University, Adana (Turkey)

    2013-06-15

    Turner syndrome (TS) is one of the most common chromosomal abnormalities, with an estimated frequency among female live births of 1/2,000-3,000. The syndrome is characterized by the partial or complete absence of one X chromosome (45,X karyotype). We reported a unique case of a 40-year-old woman with TS accompanying unexpected elongated styloid process specific to Eagle syndrome (ES) and followed up-prolactinoma. The present article is the first report to define the cone-beam computed tomographic (CBCT) features of TS accompanying ES. Patients with TS carry various risks that make treatment more complicated; thus advanced imaging techniques for proper treatment and follow-up are extremely important. In the light of CBCT examination, craniofacial abnormalities specific to TS and accompanying syndromes such as the crowding of teeth especially in the maxillary anterior region caused by maxillary narrowness, micrognatic maxilla and mandible, relative mandibular retrusion, malocclusion, open-bite, and an elongated styloid process (length of 32.7 mm) on the right side were illustrated in detail.

  20. Preliminary Evidence for Aortopathy and an X-Linked Parent-of-Origin Effect on Aortic Valve Malformation in a Mouse Model of Turner Syndrome

    Directory of Open Access Journals (Sweden)

    Robert B. Hinton

    2015-07-01

    Full Text Available Turner syndrome (TS, most frequently caused by X-monosomy (45,X, is characterized in part by cardiovascular abnormalities, including aortopathy and bicuspid aortic valve (BAV. There is a need for animal models that recapitulate the cardiovascular manifestations of TS. Extracellular matrix (ECM organization and morphometrics of the aortic valve and proximal aorta were examined in adult 39,XO mice (where the parental origin of the single X was paternal (39,XPO or maternal (39,XMO and 40,XX controls. Aortic valve morphology was normal (tricuspid in all of the 39,XPO and 40,XX mice studied, but abnormal (bicuspid or quadricuspid in 15% of 39,XMO mice. Smooth muscle cell orientation in the ascending aorta was abnormal in all 39,XPO and 39,XMO mice examined, but smooth muscle actin was decreased in 39,XMO mice only. Aortic dilation was present with reduced penetrance in 39,XO mice. The 39,XO mouse demonstrates aortopathy and an X-linked parent-of-origin effect on aortic valve malformation, and the candidate gene FAM9B is polymorphically expressed in control and diseased human aortic valves. The 39,XO mouse model may be valuable for examining the mechanisms underlying the cardiovascular findings in TS, and suggest there are important genetic modifiers on the X chromosome that modulate risk for nonsyndromic BAV and aortopathy.

  1. Accurate long-term prediction of height during the first four years of growth hormone treatment in prepubertal children with growth hormone deficiency or Turner Syndrome.

    Science.gov (United States)

    Ranke, Michael B; Lindberg, Anders; Brosz, Mathias; Kaspers, Stefan; Loftus, Jane; Wollmann, Hartmut; Kołtowska-Haggstrom, Maria; Roelants, Mathieu

    2012-01-01

    The study aim was to develop and validate models for long-term prediction of growth in prepubertal children with idiopathic growth hormone deficiency (GHD) or Turner syndrome (TS) for optimal, cost-effective growth hormone (GH) therapy. Height was predicted by sequential application of annual prediction algorithms for height velocity in cohorts of GHD (n = 664) and TS (n = 607) as documented within KIGS (Pfizer International Growth Database). As height prediction models also require an estimate of weight, new algorithms for weight increase during the first to fourth prepubertal years on GH were developed. When height was predicted from the start of GH treatment, the predicted and observed mean (SD) gain over 4 years was 30.4 (3.4) cm and 30.1 (4.9) cm, respectively, in GHD patients, and 27.2 (2.2) cm and 26.6 (3.5) cm, respectively, in TS patients. For all 4 years, gains of weight SD scores (SDS) were accurately described as a function of weight SDS and observed gain in height SDS (R(2) > 0.89). In GHD and TS patients treated with GH, an accurate prepubertal long-term prediction of height development in groups is possible. Based on this, an optimal individual height outcome could be simulated. Copyright © 2012 S. Karger AG, Basel.

  2. The proportion of diploid 46,XX cells increases with time in women with Turner syndrome--a 10-year follow-up study.

    Science.gov (United States)

    Denes, Anna-Maria; Landin-Wilhelmsen, Kerstin; Wettergren, Yvonne; Bryman, Inger; Hanson, Charles

    2015-02-01

    In the normal population, loss of one of the sex chromosomes leading to monosomy (45,X) is a part of the aging process. In Turner syndrome (TS), the classic karyotype 45,X is found in up to 50% at birth, and others have a second cell line; mosaicism. The aim was to study if the chromosomal pattern in TS women changes over time. Fluorescence in situ hybridization was performed on buccal smear cells obtained twice, 10 years apart, from 42 women with TS aged 26-66 years (mean±standard deviation: 42.0±11.6). DNA probes specific for chromosomes X (DXZ1) and Y (DYZ3) were used and >100 cells were analyzed/patient. Nineteen women had monosomy (45,X) (<10% 46,XX), nine had 45,X/46,XX mosaicism, and 14 had iso, ring, or a marker chromosome at baseline. At 10 years, the percentage of diploid cells had increased in 29 of 42 women (69%), with an average increase of 5.7±13.0%. There was a positive correlation between age and % change in diploid 46,XX or 46,XY cells (r=0.38, p=0.023). This new finding might have relevance for the life expectancy in TS.

  3. The Proportion of Diploid 46,XX Cells Increases with Time in Women with Turner Syndrome—A 10-Year Follow-Up Study

    Science.gov (United States)

    Denes, Anna-Maria; Landin-Wilhelmsen, Kerstin; Wettergren, Yvonne; Bryman, Inger

    2015-01-01

    In the normal population, loss of one of the sex chromosomes leading to monosomy (45,X) is a part of the aging process. In Turner syndrome (TS), the classic karyotype 45,X is found in up to 50% at birth, and others have a second cell line; mosaicism. The aim was to study if the chromosomal pattern in TS women changes over time. Fluorescence in situ hybridization was performed on buccal smear cells obtained twice, 10 years apart, from 42 women with TS aged 26–66 years (mean±standard deviation: 42.0±11.6). DNA probes specific for chromosomes X (DXZ1) and Y (DYZ3) were used and >100 cells were analyzed/patient. Nineteen women had monosomy (45,X) (<10% 46,XX), nine had 45,X/46,XX mosaicism, and 14 had iso, ring, or a marker chromosome at baseline. At 10 years, the percentage of diploid cells had increased in 29 of 42 women (69%), with an average increase of 5.7±13.0%. There was a positive correlation between age and % change in diploid 46,XX or 46,XY cells (r=0.38, p=0.023). This new finding might have relevance for the life expectancy in TS. PMID:25587646

  4. Insulin resistance in adolescents with Turner syndrome is comparable to obese peers, but the overall metabolic risk is lower due to unknown mechanism.

    Science.gov (United States)

    Wojcik, M; Janus, D; Zygmunt-Gorska, A; Starzyk, J B

    2015-03-01

    An increased risk of insulin resistance, hypertension and liver dysfunction is related to obesity (Ob), but may be also present in normal-weight Turner syndrome (TS) patients. The aim of the study was to compare metabolic risk in adolescents with TS and Ob. The study included 21 non-obese with TS (all receiving human recombinant growth hormone, 17/21 estrogen/estrogen-progesterone), and 21 age-matched Ob girls (mean age 13.9 years). Glucose and serum insulin levels were assessed fasting and in 120' of standard oral glucose tolerance test. Levels of triglycerides (TG), total cholesterol (TC), low-density lipoprotein (LDL) and high-density lipoprotein (HDL) cholesterol, alanine aminotransferase (ALT), FGF19, FGF21 and FGF23 levels were measured fasting. Mean BMI SDS was significantly lower in TS patients (0.1 vs 4.8 SD, p insulin (14.97 vs 17.19 and 69.3 vs 98.78 μIU/mL) levels, HOMA-IR (3.02 vs 3.4), TC (4.05 vs 4.4 mmol/L), TG (1.25 vs 1.37 mmol/L), ALT (26.9 vs 28.3 IU/L), FGF19 (232.8 vs 182.7 pg/mL), and FGF23 (12.3 vs 17.5 pg/mL) levels. Mean LDL (2.05 vs 2.7 mmol/L, p = 0.003) and FGF21 (293.9 vs 514.7 pg/mL, p = 0.007) levels were significantly lower, and HDL (1.7 vs 1.2 mmol/L, p Insulin resistance in adolescents with TS on growth hormone treatment is comparable to Ob patients, but overall metabolic risk factors seem to be lower.

  5. Long-term effects of oxandrolone treatment in childhood on neurocognition, quality of life and social-emotional functioning in young adults with Turner syndrome.

    Science.gov (United States)

    Freriks, K; Verhaak, C M; Sas, T C J; Menke, L A; Wit, J M; Otten, B J; de Muinck Keizer-Schrama, S M P F; Smeets, D F C M; Netea-Maier, R T; Hermus, A R M M; Kessels, R P C; Timmers, H J L M

    2015-03-01

    Turner syndrome (TS) is the result of (partial) absence of one X-chromosome. Besides short stature, gonadal dysgenesis and other physical aspects, TS women have typical psychological features. Since psychological effects of androgen exposure in childhood probably are long-lasting, we explored long-term psychological functioning after oxandrolone (Ox) therapy during childhood in adults with TS in terms of neurocognition, quality of life and social-emotional functioning. During the initial study, girls were treated with growth hormone (GH) combined with placebo (Pl), Ox 0.03 mg/kg/day, or Ox 0.06 mg/kg/day from the age of eight, and estrogen from the age of twelve. Sixty-eight women participated in the current double-blinded follow-up study (mean age 24.0 years, mean time since stopping GH/Ox 8.7 years). We found no effects on neurocognition. Concerning quality of life women treated with Ox had higher anxiety levels (STAI 37.4 ± 8.4 vs 31.8 ± 5.0, p=0.002) and higher scores on the depression subscale of the SCL-90-R (25.7 ± 10.7 vs 20.5 ± 4.7, p=0.01). Regarding social-emotional functioning, emotion perception for fearful faces was lower in the Ox-treated patients, without effect on interpersonal behavior. Our exploratory study is the first to suggest that androgen treatment in adolescence possibly has long-term effects on adult quality of life and social-emotional functioning. However, differences are small and clinical implications of our results seem limited. Therefore we would not recommend against the use of Ox in light of psychological consequences. Copyright © 2014 Elsevier Inc. All rights reserved.

  6. Prediction of Spontaneous Puberty in Turner Syndrome Based on Mid-Childhood Gonadotropin Concentrations, Karyotype, and Ovary Visualization: A Longitudinal Study.

    Science.gov (United States)

    Hankus, Magdalena; Soltysik, Kamil; Szeliga, Kamila; Antosz, Aleksandra; Drosdzol-Cop, Agnieszka; Wilk, Krzysztof; Zachurzok, Agnieszka; Malecka-Tendera, Ewa; Gawlik, Aneta Monika

    2017-12-22

    To investigate whether karyotype, mid-childhood (6-10 years) follicle-stimulating hormone (FSH) and luteinizing hormone (LH) levels, and ultrasound ovary visualization results can be used as indicators of spontaneous puberty in Turner syndrome (TS). The analysis was based on clinical and biochemical data from 110 TS girls aged >13 years at the end of the study (1,140 visits between 1996 and 2015). The study population was divided according to karyotype: 45,X and non-45,X. The mean age ± standard deviation at diagnosis was 10.7 ± 4.0 years, and the follow-up duration was 5.9 ± 3.3 years. Spontaneous puberty was confirmed in 48% and menarche in 20% of the subjects, less frequently in 45,X girls. The mean age at Tanner stage B2 was 13.7 ± 2.4 years and that at menarche 14.2 ± 1.7 years, regardless of the karyotype. The median FSH level at 6-10 years was 8.16 IU/L, which was significantly lower than 10 years. The median LH level at 6-10 years was 0.35 IU/L, which was lower than >10 years. The chance of spontaneous menarche was decreased in girls with FSH ≥6.7 IU/L between 6 and 10 years. Although spontaneous puberty and menarche occur more frequently in non-45,X girls, the karyotype cannot be used to predict them. However, the chance of spontaneous menarche can be predicted based on gonadotropin cut-off values. There was no correlation between ultrasound ovary visualization results and spontaneous puberty. © 2017 S. Karger AG, Basel.

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

    Science.gov (United States)

    2010-01-01

    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. PMID:20377888

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

    Science.gov (United States)

    Goetghebeur, Mireille M; Wagner, Monika; Khoury, Hanane; Rindress, Donna; Grégoire, Jean-Pierre; Deal, Cheri

    2010-04-08

    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.

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

    Directory of Open Access Journals (Sweden)

    Grégoire Jean-Pierre

    2010-04-01

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

  10. Advanced statistical analysis of laser-induced breakdown spectroscopy data to discriminate sedimentary rocks based on Czerny–Turner and Echelle spectrometers

    Energy Technology Data Exchange (ETDEWEB)

    Zhu, Xiaoqin; Xu, Tao; Lin, Qingyu [Research Center of Analytical Instrumentation, College of Chemistry, Sichuan University, Chengdu 610064 (China); Liang, Long [College of Chemistry and Materials Science, Northwest University, Xi' an 710069 (China); Niu, Guanghui; Lai, Hongjun; Xu, Mingjun; Wang, Xu [Research Center of Analytical Instrumentation, College of Chemistry, Sichuan University, Chengdu 610064 (China); Li, Hua [College of Chemistry and Materials Science, Northwest University, Xi' an 710069 (China); Duan, Yixiang, E-mail: yduan@scu.edu.cn [Research Center of Analytical Instrumentation, College of Chemistry, Sichuan University, Chengdu 610064 (China)

    2014-03-01

    The correct identification of rock types is critical for understanding the origins and history of any particular rock body. Laser-induced breakdown spectroscopy (LIBS) has developed into an excellent analytical tool for geological materials research because of its numerous technical advantages compared with traditional methods. The coupling of LIBS with advanced multivariate analysis has received increasing attention because it facilitates the rapid processing of spectral information to differentiate and classify samples. In this study, we collected LIBS datasets for 16 sedimentary rocks from Triassic strata in Sichuan Basin. We compared the performance of two types of spectrometers (Czerny–Turner and Echelle) for classification of rocks using two advanced multivariate statistical techniques, i.e., partial least squares discriminant analysis (PLS-DA) and support vector machines (SVMs). Comparable levels of performance were achievable when using the two systems in the best signal reception conditions. Our results also suggest that SVM outperformed PLS-DA in classification performance. Then, we compared the results obtained when using pre-selected wavelength variables and broadband LIBS spectra as variable inputs. They provided approximately equivalent levels of performance. In addition, the rock slab samples were also analyzed directly after being polished. This minimized the analysis time greatly and showed improvement of classification performance compared with the pressed pellets. - Highlights: • SVM and PLS-DA were compared using two spectrometers to classify sedimentary rocks. • SVM combined with LIBS improved the classification accuracy compared with PLS-DA. • Minimal difference using pre-selected and broadband spectra as variable inputs • Improved classification performance achievable using polished rock slab samples.

  11. Women with Turner syndrome are at high risk of lifestyle-related disease -From questionnaire surveys by the Foundation for Growth Science in Japan.

    Science.gov (United States)

    Hanew, Kunihiko; Tanaka, Toshiaki; Horikawa, Reiko; Hasegawa, Tomonobu; Fujita, Keinosuke; Yokoya, Susumu

    2016-05-31

    In this study, the prevalence of obesity and complications of lifestyle-related diseases, such as diabetes mellitus, hypertension, dyslipidemia and liver dysfunction, as well as the relationship with karyotypes, were investigated in 492 patients with Turner syndrome (TS) aged 17 years or older. Data were obtained through questionnaire surveys administered by attending physicians throughout Japan. Collected data were compared with data from the National Health and Nutrition Survey. Patient ages ranged from 17.1 to 42.5 years (mean ± standard error, 26.6±0.2). The prevalence of lifestyle-related diseases at age 20 or over was 6.3% for diabetes, 8.7% for hypertension, 20.2% for dyslipidemia and 12.4% for liver dysfunction. These four diseases were clearly associated with severity of obesity. Obesity (BMI ≥25 kg/m(2)) was observed in 106 out of 426 patients with TS aged 15 to 39 years (24.7%) and the prevalence was significantly higher than that of the general female population (9.4%). The mean BMI in age subgroups without any complications ranged from 21.2 to 22.7, which although was within normal ranges was significantly higher than that in the general female population (20.3-21.3). In this study population, patients with TS had more complications related to lifestyle-related diseases that were highly related to obesity. Few associations between complications and karyotypes were found. In the follow-up of patients with TS, the presence of lifestyle-related disease should be considered in the evaluation and treatment of the disease.

  12. Percepción y causación: apuntes para la construcción de una crítica a la teoría de la integración conceptual de Fauconnier y Turner

    Directory of Open Access Journals (Sweden)

    Felipe Beltrán Vega

    2014-01-01

    Full Text Available Las preguntas acerca de cómo se lleva a cabo la integración en la experiencia visual de diversos aspectos (color, forma, movimiento, etc., procesados en áreas corticales del cerebro humano diferentes y distantes entre sí, encuentran una posible respuesta en la propuesta de Gilles Fauconnier y Mark Turner acerca de la “integración conceptual” como operación fundamental de la racionalidad humana. Esta respuesta revela, ante el análisis, cuáles son algunas de las limitaciones que el planteamiento de los autores considerados debería señalar.

  13. Health-related quality of life of young adults with Turner syndrome following a long-term randomized controlled trial of recombinant human growth hormone

    Directory of Open Access Journals (Sweden)

    Van Vliet Guy

    2011-05-01

    Full Text Available Abstract Background There are limited long-term randomized controlled trials of growth hormone (GH supplementation to adult height and few published reports of the health-related quality of life (HRQOL following treatment. The present follow-up study of young adults from a long-term controlled trial of GH treatment in patients with Turner syndrome (TS yielded data to examine whether GH supplementation resulted in a higher HRQOL (either due to taller stature or from the knowledge that active treatment and not placebo had been received or alternatively a lower HRQOL (due to medicalization from years of injections. Methods The original trial randomized 154 Canadian girls with TS aged 7-13 years from 13 centres to receive either long-term GH injections at the pharmacologic dose of 0.3 mg/kg/week or to receive no injections; estrogen prescription for induction of puberty was standardized. Patients were eligible for the follow-up study if they were at least 16 years old at the time of follow-up. The instrument used to study HRQOL was the SF-36, summarized into physical and mental component scales (PCS and MCS; higher scores indicate better HRQOL. Results Thirty-four of the 48 eligible participants (71% consented to participate; data were missing for one patient. Both groups (GH and no treatment had normal HRQOL at this post-treatment assessment. The GH group had a (mean ± SD PCS score of 56 ± 5; the untreated group 58 ± 4; mean score for 16-24 year old females in the general population 53.5 ± 6.9. The GH group had a mean MCS score of 52 ± 6; the untreated group 49 ± 13; mean score for 16-24 year old females in the general population 49.6 ± 9.8. Secondary analyses showed no relationship between HRQOL and height. Conclusions We found no benefit or adverse effect on HRQOL either from receiving or not receiving growth hormone injections in a long-term randomized controlled trial, confirming larger observational studies. We suggest that it remains

  14. Anti-Müllerian hormone levels in girls and adolescents with Turner syndrome are related to karyotype, pubertal development and growth hormone treatment.

    Science.gov (United States)

    Visser, Jenny A; Hokken-Koelega, Anita C S; Zandwijken, Gladys R J; Limacher, Andreas; Ranke, Michael B; Flück, Christa E

    2013-07-01

    In girls and adolescents with Turner syndrome (TS), is there a correlation between serum AMH levels and karyotype, spontaneous puberty and other biochemical markers of ovarian function, or growth hormone (GH) therapy? Serum anti-Müllerian hormone (AMH) correlates with karyotype, pubertal development, LH, FSH and are measurable in a higher percentage of TS patients under GH therapy. Most girls with TS suffer from incomplete sexual development, premature ovarian failure and infertility due to abnormal ovarian folliculogenesis. Serum AMH levels reflect the ovarian reserve in females, even in childhood. Cross-sectional study investigating 270 karyotype proven TS patients aged 0-20 years between 2009 and 2010. Studies were conducted at three University Children's hospitals in Europe. Main outcome measures were clinical data concerning pubertal development as well as laboratory data including karyotype, serum AMH, LH, FSH, estradiol (E2), inhibin B and IGF. RESULTS AND THE ROLE OF CHANCE: Serum AMH was detectable in 21.9% of all TS girls and correlated strongly with karyotypes. A measurable serum AMH was found in 77% of TS girls with karyotype 45,X/46,XX, in 25% with 'other' karyotypes and in only 10% of 45,X TS girls. A strong relationship was also observed for measurable serum AMH and signs of spontaneous puberty such as breast development [adjusted odds ratio (OR) 19.3; 95% CI 2.1-175.6; P = 0.009] and menarche (crude OR 47.6; 95% CI 4.8-472.9; P = 0.001). Serum AMH correlated negatively with FSH and LH, but did not correlate with E2 and inhibin B. GH therapy increased the odds of having measurable AMH in TS (adjusted OR 4.1; 95% CI 1.9-8.8; P < 0.001). The cross-sectional design of the study does not allow longitudinal interpretation of the data; for that further studies are needed. High percentage of non-measurable AMH levels in the cohort of TS require categorized analysis.

  15. Application of Neural Networks for classification of Patau, Edwards, Down, Turner and Klinefelter Syndrome based on first trimester maternal serum screening data, ultrasonographic findings and patient demographics.

    Science.gov (United States)

    Catic, Aida; Gurbeta, Lejla; Kurtovic-Kozaric, Amina; Mehmedbasic, Senad; Badnjevic, Almir

    2018-02-13

    The usage of Artificial Neural Networks (ANNs) for genome-enabled classifications and establishing genome-phenotype correlations have been investigated more extensively over the past few years. The reason for this is that ANNs are good approximates of complex functions, so classification can be performed without the need for explicitly defined input-output model. This engineering tool can be applied for optimization of existing methods for disease/syndrome classification. Cytogenetic and molecular analyses are the most frequent tests used in prenatal diagnostic for the early detection of Turner, Klinefelter, Patau, Edwards and Down syndrome. These procedures can be lengthy, repetitive; and often employ invasive techniques so a robust automated method for classifying and reporting prenatal diagnostics would greatly help the clinicians with their routine work. The database consisted of data collected from 2500 pregnant woman that came to the Institute of Gynecology, Infertility and Perinatology "Mehmedbasic" for routine antenatal care between January 2000 and December 2016. During first trimester all women were subject to screening test where values of maternal serum pregnancy-associated plasma protein A (PAPP-A) and free beta human chorionic gonadotropin (β-hCG) were measured. Also, fetal nuchal translucency thickness and the presence or absence of the nasal bone was observed using ultrasound. The architectures of linear feedforward and feedback neural networks were investigated for various training data distributions and number of neurons in hidden layer. Feedback neural network architecture out performed feedforward neural network architecture in predictive ability for all five aneuploidy prenatal syndrome classes. Feedforward neural network with 15 neurons in hidden layer achieved classification sensitivity of 92.00%. Classification sensitivity of feedback (Elman's) neural network was 99.00%. Average accuracy of feedforward neural network was 89.6% and for

  16. Setting conservation management thresholds using a novel participatory modeling approach.

    Science.gov (United States)

    Addison, P F E; de Bie, K; Rumpff, L

    2015-10-01

    We devised a participatory modeling approach for setting management thresholds that show when management intervention is required to address undesirable ecosystem changes. This approach was designed to be used when management thresholds: must be set for environmental indicators in the face of multiple competing objectives; need to incorporate scientific understanding and value judgments; and will be set by participants with limited modeling experience. We applied our approach to a case study where management thresholds were set for a mat-forming brown alga, Hormosira banksii, in a protected area management context. Participants, including management staff and scientists, were involved in a workshop to test the approach, and set management thresholds to address the threat of trampling by visitors to an intertidal rocky reef. The approach involved trading off the environmental objective, to maintain the condition of intertidal reef communities, with social and economic objectives to ensure management intervention was cost-effective. Ecological scenarios, developed using scenario planning, were a key feature that provided the foundation for where to set management thresholds. The scenarios developed represented declines in percent cover of H. banksii that may occur under increased threatening processes. Participants defined 4 discrete management alternatives to address the threat of trampling and estimated the effect of these alternatives on the objectives under each ecological scenario. A weighted additive model was used to aggregate participants' consequence estimates. Model outputs (decision scores) clearly expressed uncertainty, which can be considered by decision makers and used to inform where to set management thresholds. This approach encourages a proactive form of conservation, where management thresholds and associated actions are defined a priori for ecological indicators, rather than reacting to unexpected ecosystem changes in the future. © 2015 The

  17. Genetics Home Reference: Turner syndrome

    Science.gov (United States)

    ... and CRISPR-Cas9? What is direct-to-consumer genetic testing? What is precision medicine? What is newborn screening? New Pages Leprosy Polycystic ovary syndrome Gorlin-Chaudhry-Moss syndrome All New & Updated Pages ...

  18. Diagnóstico da Síndrome de Turner: a experiência do Instituto Estadual de Diabetes e Endocrinologia - Rio de Janeiro, de 1970 a 2008 Diagnosis of Turner's Syndrome: the experience of the Rio de Janeiro State Institute of Diabetes and Endocrinology between 1970 and 2008

    Directory of Open Access Journals (Sweden)

    Monica de Paula Jung

    2010-03-01

    Full Text Available OBJETIVOS: descrever a experiência no diagnóstico da Síndrome de Turner (ST, focalizando a distribuição dos cromossomos, a idade, os sinais e sintomas característicos, conforme as fases da vida (lactância, infância, adolescência e adulta. MÉTODOS: estudo descritivo com 178 pacientes, atendidos de 1970 até 2008. Para análise estatística das diferenças percentuais usou-se o Epi-Info-2000 e para as diferenças entre as médias de idades o teste t de Student e o ANOVA. RESULTADOS: os cariótipos encontrados foram: 79 com 45,X (35,4%, 36 com isocromossomo Xq (20,2% e 63 com outros mosaicos (35,4%. A média de idade do diagnóstico foi de 12,6 anos, sendo menor naquelas com 45,X. Tiveram o diagnóstico feito na lactância 11,3% das pacientes, 25,3% na infância, 51,1% na adolescência e 12,4% na fase adulta. Daquelas diagnosticadas antes dos cinco anos de idade, 70,6% apresentaram 45,X. Os sinais que levaram à suspeita diagnóstica na lactância foram o pescoço alado e o linfedema congênito de pés/mãos associados às dismorfias típicas; na infância e adolescência foi a baixa estatura. Cubitus valgus foi encontrado em 72,5% das pacientes e orelhas anômalas em 65% das pacientes diagnosticadas com menos de um ano de idade. CONCLUSÃO: o diagnóstico da ST é desnecessariamente atrasado, levando-se em consideração que algumas características típicas podem já estar presentes desde o nascimento.OBJECTIVES: to describe the Rio de Janeiro State Institute of Diabetes and Endocrinology's experience in diagnosing Turner Syndrome (TS, focusing on the distribution of chromosomes, age, and typical signs and symptoms, according to life stage (breast feeding, childhood, adolescence and adulthood. METHODS: a descriptive study was conducted of 178 patients, attending the Institute between 1970 and 2008 for the purposes of statistical analysis of the percentage differences using Epi-Info-2000 and of the differences between the mean ages using

  19. Effects of low-dose estrogen replacement during childhood on pubertal development and gonadotropin concentrations in patients with Turner syndrome: results of a randomized, double-blind, placebo-controlled clinical trial.

    Science.gov (United States)

    Quigley, Charmian A; Wan, Xiaohai; Garg, Sipi; Kowal, Karen; Cutler, Gordon B; Ross, Judith L

    2014-09-01

    The optimal approach to estrogen replacement in girls with Turner syndrome has not been determined. The aim of the study was to assess the effects of an individualized regimen of low-dose ethinyl estradiol (EE2) during childhood from as early as age 5, followed by a pubertal induction regimen starting after age 12 and escalating to full replacement over 4 years. This study was a prospective, randomized, double-blind, placebo-controlled clinical trial. The study was conducted at two US pediatric endocrine centers. Girls with Turner syndrome (n = 149), aged 5.0-12.5 years, were enrolled; data from 123 girls were analyzable for pubertal onset. Interventions comprised placebo or recombinant GH injections three times a week, with daily oral placebo or oral EE2 during childhood (25 ng/kg/d, ages 5-8 y; 50 ng/kg/d, ages >8-12 y); after age 12, all patients received escalating EE2 starting at a nominal dosage of 100 ng/kg/d. Placebo/EE2 dosages were reduced by 50% for breast development before age 12 years, vaginal bleeding before age 14 years, or undue advance in bone age. The main outcome measures for this report were median ages at Tanner breast stage ≥2, median age at menarche, and tempo of puberty (Tanner 2 to menarche). Patterns of gonadotropin secretion and impact of childhood EE2 on gonadotropins also were assessed. Compared with recipients of oral placebo (n = 62), girls who received childhood low-dose EE2 (n = 61) had significantly earlier thelarche (median, 11.6 vs 12.6 y, P placebo recipients, girls who had spontaneous breast development before estrogen exposure had significantly lower median FSH values than girls who did not. In addition to previously reported effects on cognitive measures and GH-mediated height gain, childhood estrogen replacement significantly normalized the onset and tempo of puberty. Childhood low-dose estrogen replacement should be considered for girls with Turner syndrome.

  20. Le personnage du Christ dans les Mystères anglais : une analyse d'après les travaux de Victor Turner

    Directory of Open Access Journals (Sweden)

    Tatjana Silec

    2010-06-01

    Full Text Available Dans les Mystères de York ou de Towneley, le Christ tient à la fois du fou de cour et du fou sage, ce qui peut sembler paradoxal mais trouve son origine dans la place accordée au fou dans la société médiévale occidentale en général. Le fou dit « sage » était, en raison du mépris dans lequel il tenait sa propre personne physique et son statut social, couvert du même opprobre que son homonyme de cour: tous deux bénéficiaient d'une liberté singulière qu'ils payaient de l'abandon de toute dignité. Les brimades endurées par le Christ dans deux Mystères anglais, Christ Before Herod et The Buffeting1, qui visent, pour les bourreaux, à humilier leur victime en faisant d’elle un bouffon, ont pour objet véritable de rendre évidente la folie d'un tel geste aux yeux des spectateurs, ainsi que le courage du Christ dans une mise en scène qui met en avant les qualités liminales de cette période de la vie du fils de Dieu, lequel est amené à devenir roi au terme de celle-ci. Elles mettent également en évidence le statut véritablement abject du fou professionnel.In the mystery cycles of York and Towneley, Jesus Christ is compared to a jester or a (wise fool by his opponents, something which is not so surprising if one takes into account the place given to the fool in medieval society. Indeed, despite his “wisdom” and because of his traditional lack of regard for his own person or status, the wise fool was the regular target of the same sort of abuse that the professional jester incurred, for it was the price they both had to pay for the special type of freedom they were awarded. The humiliations that Christ is subjected to in Christ Before Herod and The Buffeting, which his tormentors use to ridicule him, are evidence of their own folly and a testament to their victim’s fortitude. They exhibit the liminal qualities described by Turner in his analysis of the ritual process. And they are also a reminder of the truly abject

  1. Los lugares de lo político, los desplazamientos del símbolo. Poder y simbolismo en la obra de Victor W. Turner, de Rodrigo Díaz Cruz

    Directory of Open Access Journals (Sweden)

    Dario Ranocchiari

    2015-01-01

    Full Text Available Este es un libro que hacía falta desde hace mucho tiempo. Puede que eso quiera decir —como sugiere el autor en la introducción— que habría sido mejor si se hubiese publicado hace veinte o treinta años, pero mi opinión es que no hay momentos mejores de este para redescubrir la obra de Victor Turner (1920-1983. ¿Habrían tenido que publicarse ya en los 1970 y 1980 estudios críticos analíticos y bien fundamentados sobre las muchas almas de la antropología turneriana? Sí, indudablemente. Pero la lectura que de ella nos proporciona en 2014 Rodrigo Díaz Cruz no habría podido hacerse en pleno auge de la antropología interpretativa o de la posmoderna.

  2. Fluorescence in situ hybridisation analysis and ovarian histology of women with Turner syndrome presenting with Y-chromosomal material: a correlation between oral epithelial cells, lymphocytes and ovarian tissue.

    Science.gov (United States)

    Hanson, Lars; Bryman, Inger; Janson, Per Olof; Jakobsen, Anne-Marie; Hanson, Charles

    2002-01-01

    The early detection of Y-chromosomal material in women with Turner syndrome (TS) is of great importance due to a relatively high risk of gonadal tumour development. Using fluorescence in situ hybridisation (FISH) analysis, we studied the presence of three different Y-specific sequences (SRY, Ycen and Yq12) in three different tissues (oral epithelial cells, lymphocytes and ovarian tissue) of twelve TS women. We have also described their ovarian histology. Two of the women (17%) had gonadal tumours. In five women where ovarian tissue was available, the presence of Y-chromosomal material in oral epithelial cells and lymphocytes correlated to the presence of Y-chromosomal material in the gonads. We therefore conclude that FISH analysis of oral epithelial cells and/or lymphocytes is a valuable complement to karyotyping for the early detection of Y-chromosomal material in TS women.

  3. Características clínicas e citogenéticas da síndrome de Turner na região Centro-Oeste do Brasil Clinical and cytogenetic aspects of the Turner syndrome in the Brazilian Western region

    Directory of Open Access Journals (Sweden)

    Claudinéia de Araújo

    2010-08-01

    Full Text Available OBJETIVO: examinar a associação entre características citogenéticas e alterações clínicas em pacientes com síndrome de Turner (ST. MÉTODOS: Foram incluídas 42 pacientes. Os dados clínicos foram colhidos e registrados em formulário padronizado com entrevista do responsável e, quando possível, com a própria paciente, seguido de exame físico detalhado. A associação entre cariótipo e intercorrências clínicas foram examinadas pelo teste do χ2. RESULTADOS: Das pacientes, 64% tinham cariótipo 45,X; 26,2% 45,X/46,X; 7% 45,X/46Xi(Xq e 2,3% 45,X/46,X,Del(Xq. Independentemente do cariótipo, 100% das pacientes apresentaram baixa estatura. A implantação baixa dos cabelos foi mais frequente nas pacientes com cariótipo 45,X (p=0,03. Anomalias cardiovasculares (45%, otites (43%, disfunção da tireoide (33% e hipertensão arterial (26,6% foram as alterações clínicas mais frequentes e não mostraram correlação com o cariótipo. A avaliação de medidas antropométricas revelou correlação positiva entre a idade e o diâmetro da cintura e quadril (r=0,9; p=0,01. Trinta e uma pacientes (74% faziam ou tinham feito uso de medicamentos, sendo que hormônio de crescimento (43%, esteroides sexuais (30%, tiroxina (11,9% e oxandrolona (9,5% foram os mais utilizados. A comparação da idade da gestação no momento em que ocorreu o parto com dificuldade no aprendizado mostrou razão de prevalência de 1,71 (p>0,05. CONCLUSÃO: a implantação baixa dos cabelos é o estigma mais prevalente nas pacientes com cariótipo 45,X e as alterações clínicas mais comuns são as cardiovasculares, otites, hipertensão arterial e disfunções tireoidianas, porém não apresentam correlação com o cariótipo.PURPOSE: to examine the association between cytogenetic characteristics and clinical and epidemiological changes in patients with Turner syndrome (TS. METHODS: Forty-two patients were included. Data were collected using a standardized

  4. Derivation of a water quality guideline for aluminium in marine waters.

    Science.gov (United States)

    Golding, Lisa A; Angel, Brad M; Batley, Graeme E; Apte, Simon C; Krassoi, Rick; Doyle, Chris J

    2015-01-01

    Metal risk assessment of industrialized harbors and coastal marine waters requires the application of robust water quality guidelines to determine the likelihood of biological impacts. Currently there is no such guideline available for aluminium in marine waters. A water quality guideline of 24 µg total Al/L has been developed for aluminium in marine waters based on chronic 10% inhibition or effect concentrations (IC10 or EC10) and no-observed-effect concentrations (NOECs) from 11 species (2 literature values and 9 species tested including temperate and tropical species) representing 6 taxonomic groups. The 3 most sensitive species tested were a diatom Ceratoneis closterium (formerly Nitzschia closterium; IC10 = 18 µg Al/L, 72-h growth rate inhibition) aluminium forms of aluminate (Al(OH4 (-) ) and aluminium hydroxide (Al(OH)3 (0) ) although both dissolved, and particulate aluminium contributed to toxicity in the diatom Minutocellus polymorphus and green alga Dunaliella tertiolecta. In contrast, aluminium toxicity to the green flagellate alga Tetraselmis sp. was the result of particulate aluminium only. Four species, a brown macroalga (Hormosira banksii), sea urchin embryo (Heliocidaris tuberculata), and 2 juvenile fish species (Lates calcarifer and Acanthochromis polyacanthus), were not adversely affected at the highest test concentration used. © 2014 SETAC.

  5. Turner Syndrome: A Guide for Families

    Science.gov (United States)

    ... but the availability has decreased among providers of Assisted Reproductive Technology because women with TS have an increased ... breaths, for example. There are many stress management techniques that work just as ... and reproduction with their children. However, talking about all aspects ...

  6. What Are the Symptoms of Turner Syndrome?

    Science.gov (United States)

    ... NICHD Research Information Find a Study More Information Pharmacology Condition Information NICHD Research Information Find a Study ... National Center for Medical Rehabilitation Research (NCMRR) Center History Funding Opportunity Announcements (FOAs) for NCMRR Partners Training & ...

  7. HYDRAULICS, TURNER COUNTY, SOUTH DAKOTA, USA

    Data.gov (United States)

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

  8. Habitat-associations of turban snails on intertidal and subtidal rocky reefs.

    Science.gov (United States)

    Smoothey, Amy F

    2013-01-01

    Patchiness of habitat has important influences on distributions and abundances of organisms. Given the increasing threat of loss and alteration of habitats due to pressures associated with humans, there is a need for ecologists to understand species' requirements for habitat and to predict changes to taxa under various future environmental conditions. This study tested hypotheses about the generality of patterns described for one species of marine intertidal turban snail for a different, yet closely-related species in subtidal habitats along the coast of New South Wales, Australia. These two closely-related species live in similar habitats, yet under quite different conditions, which provided an opportunity to investigate how similar types of habitats influence patterns of distribution, abundance and size-structure in intertidal versus subtidal environments. For each species, there were similar associations between biogenically structured habitat and densities. The intertidal species, Turbo undulates, were more abundant, with greater proportions of small individuals in habitats formed by the canopy-forming alga, Hormosira banksii, the solitary ascidian, Pyura stolonifera or the turfing red alga, Corallina officinalis compared to simple habitat (bare rock). Similarly, more Turbo torquatus were found in biogenically structured subtidal habitat, i.e. canopy-forming algae, Ecklonia radiata, mixed algal communities ('fringe'), or turfing red algae (Corallina officinalis and Amphiroa aniceps) than where habitat is simple (barrens). Small T. torquatus were more abundant in areas of turf and 'fringe', while large snails were more abundant in areas of kelp and barrens. These patterns were found at each location sampled (i.e. eight intertidal and two subtidal rocky reefs) and at all times of sampling, across each environment. This study highlighted the consistent influence of biogenically structured habitats on the distribution, abundance and size-structure of intertidal and

  9. Turner : ettevõtjaks ei sünnita / Patrick Turner ; interv. Erik Aru

    Index Scriptorium Estoniae

    Turner, Patrick

    2007-01-01

    Intervjuu rahvusvahelise ärikooli INSEAD õppejõu Patrick Turneriga, kes vastab küsimustele, mis puudutavad ettevõtlust. Ta leiab, et nii nagu inimene peab omama luba auto juhtimiseks, peaks luba olema ka firma loomiseks. Vt. samas: Kes ta on?

  10. 45, x/46, x, r (x karyotype in patients with clinical diagnosis of turner’s syndrome Cariotipo 45, X/46, X, r(X en pacientes con diagnóstico clínico de síndrome de Turner

    Directory of Open Access Journals (Sweden)

    José Luis Ramírez Castro

    2000-03-01

    Full Text Available One out of 400 to 500 living newborns show sex chromosome abnormalities. Usually, the clinic characteristics due to alteration of those chromosomes are less severe than those produced by autosomic imbalance. This tolerance of the developing fetus to the excess or deficit in the X chromosome material, may be due, at least in part, to the presence of compensatory mechanisms related with the inactivation or not of the genetic material. Turner’s syndrome is characterized by short stature, primary amenorrea, streak gonads and poor development of secondary sexual characteristics. At birth lymphedema of the dorsal surface of the hands and feet is common, but usually it disappears during lactation. Mental retardation is not a finding of this syndrome, however space-form perceptional deficits are described. All these manifestations of the syndrome have a close relation with the cytogenetic findings. The purpose of this paper is to describe the clinical manifestations and an uncommon X ring chromosome mosaicism in patients with Turner syndrome-like characteristics tended in the Medical Genetics Unit of the Medical School – Antioquia University. Clinical and cytogenetics aspects in these patients are discussed. Uno de cada 400 a 500 recién nacidos vivos presenta anormalidades de los cromosomas sexuales. En términos generales, las manifestaciones clínicas por dicha alteración son más leves que las producidas por imbalance autosómico. Posiblemente esta tolerancia del feto en desarrollo al exceso o deficiencia del material presente en el cromosoma X, se debe, por lo menos en parte, a la presencia de mecanismos compensadores mediante los cuales dicho material puede ser o no inactivado (1. Las mujeres con síndrome de Turner presentan baja estatura, amenorrea primaria, tórax amplio, poco desarrollo mamario y además ovarios rudimentarios. Al nacer se destaca el edema de manos y pies, el cual desaparece durante la lactancia. No existe un retardo

  11. Systems for scoring severity of illness in intensive care | Turner ...

    African Journals Online (AJOL)

    The relationship between score and mortality in all patients and in specific groups was investigated. The APACHE 11 system is likely to be the most useful in comparing different therapies and intensive care units, while the organ failure system was more accurate in predicting outcome. No system was precise enough in its ...

  12. Turner syndrome and 45,X/47,XXX mosaicism.

    Science.gov (United States)

    Akbas, E; Mutluhan, H; Savasoglu, K; Soylemez, F; Ozturk, I; Yazici, G

    2009-01-01

    The occurrence of double aneuploidy is a relatively rare phenomenon. We report on a 17-year-old woman with short stature, minimal pubic and axillar hair and short hands. In cultured lymphocyte a double aneuploidy mosaicism was detected, consisting of a cell line with trisomy for X chromosome and a cell line with monosomy for the X-chromosome and no cell line with a normal karyotype. To our knowledge, this is the first case of mosaic 45,X/47,XXX in Turkey.

  13. ESO65-SC03, Teutsch 106, Turner 6

    Indian Academy of Sciences (India)

    GIREESH C. JOSHI

    2017-11-27

    Nov 27, 2017 ... several examples of the CMDs of stellar clusters such as, NGC 4755 (Bonatto et al. 2006), M11 (Santos et al. 2005) having apparent stellar sequences more than one. One of these sequences is referred as the MS of stud- ied cluster, whereas other may be the sub- or red-giant branch. The cluster's ...

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

    African Journals Online (AJOL)

    IRORO YARHERE

    strategies and is actually the first in the mnemonic that has stuck with this policy, GOBIFFEEETH. In resource limited settings, where esoteric and sophisticated materials are unavailable, simple and basic tools can be used to achieve optimal health. All health centers have or should have stadiometers to measure height and ...

  15. TURNER LECTURE Military education and the study of War

    African Journals Online (AJOL)

    class and requiring the mastery of a specified body of knowledge are mostly the result of modem technology. .... Vietnam War. At its conclusion, an eager young participant leapt to his feet and declared that the .... complex in the aftermath of the Cold War's end, and with war unlikely to disappear as a means of regulating ...

  16. Design Features of Hardening Turners with Outstripping Plastic Deformation

    Directory of Open Access Journals (Sweden)

    V. M. Yaroslavtsev

    2014-01-01

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

  17. Raptor taxonomy: Highlights from two recent papers | Turner ...

    African Journals Online (AJOL)

    In order to try and bring such items to the attention of our readers, we hereby introduce a new feature for Scopus: Items of interest from recent ornithological literature. We hope to have this feature in all forthcoming issues of Scopus, switching between topics based on interest and articles received. Besides the Editorial Board ...

  18. East Africa's diminishing bird habitats and bird species | Turner ...

    African Journals Online (AJOL)

    Scopus: Journal of East African Ornithology. Journal Home · ABOUT · Advanced Search · Current Issue · Archives · Journal Home > Vol 32 (2012) >. Log in or Register to get access to full text downloads.

  19. Buffalo weavers Bubalornis in eastern Africa | Turner | Scopus ...

    African Journals Online (AJOL)

    Scopus: Journal of East African Ornithology. Journal Home · ABOUT THIS JOURNAL · Advanced Search · Current Issue · Archives · Journal Home > Vol 36, No 2 (2016) >. Log in or Register to get access to full text downloads.

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

    DEFF Research Database (Denmark)

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

    2012-01-01

    a TS female enters adulthood it is less clear who should be the primary care giver. Morbidity and mortality is increased, especially due to the risk of dissection of the aorta and other cardiovascular diseases, as well as the risk of type 2 diabetes, hypertension, osteoporosis, thyroid disease...... and other diseases. The proper dose of HRT with female sex steroids has not been established, and, likewise, benefits and/or drawbacks from HRT have not been thoroughly evaluated. The transition period from paediatric to adult care seems to be especially vulnerable and the proper framework for transition...... treatment for increasing height, are becoming well founded. Osteoporosis, diabetes, both type 1 and 2, hypothyroidism, obesity and a host of other endocrine diseases and conditions are seen more frequently in TS. Prevention, intervention and proper treatment is only just being recognized. Hypertension...

  1. Turner/Down mosaicism: A case report | Jansen | South African ...

    African Journals Online (AJOL)

    A 45,X/47,XX, +21 mosaicism (80%:20%) in a young girl with clinical features of Down syndrome is reported. The proportion of 45,X:47,XX, +21 cells present in peripheral lymphocytes does not necessarily have a profound effect on the phenotype. A possible explanation for the occurrence of double aneuploidy is given.

  2. Buffalo weavers Bubalornis in eastern Africa | Turner | Scopus ...

    African Journals Online (AJOL)

    Scopus: Journal of East African Ornithology. Journal Home · ABOUT · Advanced Search · Current Issue · Archives · Journal Home > Vol 36, No 2 (2016) >. Log in or Register to get access to full text downloads.

  3. TURNER LECTURE Military education and the study of War

    African Journals Online (AJOL)

    Military education and the study of War. PROF JEFFREY GREY. Horner Chair of Military Theory, USMC, Quantico. & School of History. Australian Defence Force Academy. The educatibn of officers has attracted considerable attention in recent times, especially as Western armies have moved inexorably towards the all- ...

  4. Micromorphology and Histochemistry of the Laticifers from Vegetative Organs of Asclepiadoideae species (Apocynaceae)

    National Research Council Canada - National Science Library

    Diego DEMARCO

    2015-01-01

      Micromorphology and main substances of the laticifer walls and latex of Asclepias curassavica, Fischeria stellata, Gonioanthela axillaris, Matelea denticulata, and Oxypetalum banksii were analyzed...

  5. Responses to falling lll: defense mechanisms used by women with Turner syndrome and variants

    National Research Council Canada - National Science Library

    Vera Lúcia Soares Chvatal; Fátima Böttcher-Luiz; Egberto Ribeiro Turato

    2009-01-01

    ...), 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...

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

    DEFF Research Database (Denmark)

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

    2002-01-01

    (crown-rump lengths, 106-220 mm) were included in the study. From each radiograph, two horizontal (outer and inner bi-iliac distances) and two vertical (caudo-cranial) positions compared to the vertebral column were measured to estimate the position of the iliac bones. The present investigation revealed...... a different growth pattern compared to normal fetuses. Regarding the caudo-cranial position of the iliac bones compared to the lower vertebral column, there was no significant difference for the lower caudo-cranial position, but the upper caudo-cranial position was significantly lower in UTS fetuses than...

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

    DEFF Research Database (Denmark)

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

    2011-01-01

    similar. In addition we found low IGF-I, higher levels of cortisol and norepinephrine and an increased waist-hip ratio in TS. CONCLUSIONS: Young normal weight TS women show significant glucose intolerance in spite of normal insulin secretion during hyperglycaemic clamping and normal insulin sensitivity...

  8. Shepherd and Turner 1985, Prince et al. 1988, Tutschulte and Connell

    African Journals Online (AJOL)

    spamer

    1977). In South Africa, a positive relationship has been reported between juveniles of the commercially exploited abalone Haliotis midae and the sea urchin. Parechinus angulosus (Tarr 1989, Wood 1993, Tarr. S. Afr. J. mar. Sci. 22: 145–156. 2000. 145. EVIDENCE FOR A POSITIVE RELATIONSHIP BETWEEN JUVENILE.

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

    DEFF Research Database (Denmark)

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

    2009-01-01

    at baseline and follow-up (5.9+/-0.7 years). SETTING: Tertiary hospital. PARTICIPANTS: Fifty-four women with TS (43.0+/-9.95 years). Interventions Hormone replacement therapy (HRT) and calcium and vitamin D supplementation. Main outcome measures BMD (g/cm(2)) measured at lumbar spine, hip, and the non......-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, Poxygen uptake was significantly reduced in TS. CONCLUSION: Longitudinal changes in BMD in TS were slight. BMD can be maintained at most sites in well...

  10. The Turner and Colodny Cases: Academic Freedom at the University of Pittsburgh, 1934 & 1961

    Science.gov (United States)

    Good, Curtis J.

    2011-01-01

    The principle of academic freedom is a central aspect of the learning and teaching process in the American higher education system. Its importance, however, has become more accepted over time and today it is an established part of our post-secondary system. This shift in acceptance began in the early part of the twentieth century and was contested…

  11. Cardiometabolic and vascular risks in young and adolescent girls with Turner syndrome

    Directory of Open Access Journals (Sweden)

    Meenal Mavinkurve

    2015-06-01

    General significance: From a clinical perspective, this review highlights the importance of regular screening and pro-active management of cardiometabolic risk from childhood in TS cohorts and that future research should aim to address whether modification of these variables at a young age can alter the disease process and atherosclerotic outcomes in adulthood.

  12. Shepherd and Turner 1985, Prince et al. 1988, Tutschulte and Connell

    African Journals Online (AJOL)

    spamer

    They also confirmed a strong, positive relationship between urchins and juvenile abalone. Of the juvenile abalone ... ecological associations of abalone juveniles: Millers. Point ...... FARQUHAR, M. R. 1994 — Interspecific interactions of the sea.

  13. Alkaloid profile, antibacterial and allelopathic activities of Lupinus jaimehintoniana B.L. Turner (Fabaceae

    Directory of Open Access Journals (Sweden)

    Ruiz-González Nancy

    2012-01-01

    Full Text Available Herein we describe some aspects of the ethnobotanical use and the first alkaloid profile of Lupinus jaimehintoniana, the 5 to 8 m high arboreous lupine. Five quinolizidine alkaloids identified as sparteine, 5,6-dehydrolupanine, lupanine, nuttalline, and d-thermopsine, were characterized by the respective elution order according to their electronic impact spectra, lupanine being the most abundant in the four different tissues analyzed. Simultaneously, an antibacterial assessment of the four corresponding crude methanolic extracts, as well as the four semi-purified alkaloids was performed on specific Escherichia coli and Agrobacterium tumefaciens strains. These experiments resulted in MIC ranges of 37-61 µg mL-1 and 130-146 µg mL-1, respectively. for both bacterial species. Finally, the allelopathic activity of these extracts on the germination of Lactuca sativa seeds was demonstrated to be in the range of 50-300 µg mL-1 for both semi-purified alkaloid and methanolic extracts.

  14. VizieR Online Data Catalog: newly discovered planets from WASP-South (Turner+, 2016)

    Science.gov (United States)

    Turner, O. D.; Anderson, D. R.; Cameron, A. Collier; Delrez, L.; Evans, D. F.; Gillon, M.; Hellier, C.; Jehin, E.; Lendl, M.; Maxted, P. F. L.; Pepe, F.; Pollacco, D.; Queloz, D.; Segransan, D.; Smalley, B.; Smith, A. M. S.; Triaud, A. H. M. J.; Udry, S.; West, R. G.

    2017-02-01

    Lightcurves and radial velocity data of three newly discovered planets from the WASP-South survey. Discovery data come from the WASP-South telescope (SAAO, South Africa) with follow-up lightcurves from the TRAPPIST telescope and EulerCam on the Swiss telescope (La Silla, Chile). Radial velocity data are from the CORALIE spectrograph on the Swiss telescope. (6 data files).

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

    DEFF Research Database (Denmark)

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

    2007-01-01

    with healthy controls. PATIENTS: The study population comprised 58 patients with TS (aged 22-67 years) and 60 age-matched healthy women (aged 21-65 years). MEASUREMENTS: Hip axis length (HAL), neck width (NW), neck shaft angle (NSA), and femoral head-radius (HR) on dual-energy X-ray absorptiometry (DXA) screen...... for differences in height, HAL was not significantly different (9.4 +/- 0.5 vs. 9.5 +/- 0.5 cm; NS) in TS compared with controls while NW was significantly increased (3.5 +/- 0.4 cm vs. 3.3 +/- 0.2 cm, P NSA was similar (129 +/- 4 degrees vs. 130 +/- 4 degrees , NS), and HR was significantly decreased...

  16. Evaluation of antibacterial activity of the brown Seaweed Turbinaria ornata (Turner J. Agardh from Egypt

    Directory of Open Access Journals (Sweden)

    Fatma Mohamed Elnabawy Ward

    2016-08-01

    Full Text Available Objective: To investigate the potential antibacterial activities of ethanol extracts of Turbinaria ornata (T. ornata, Oleic acid (OA and palmitic acid (PA extracted from T. ornata as well as mixtures of OA and PA (1:1 against some bacterial species. Methods: Brown seaweed T. ornata was collected from Hurghada shores, Red Sea coast of Egypt. OA and PA were extracted from T. ornata. Ethanol extracts of T. ornata, OA, PA and mixtures of these two fatty acids (1:1 were tested for their antibacterial activities against Escherichia coli, Bacillus cereus, Bacillus subtilis, Klebsiella pneumonia and Staphylococcus aureus by the disc diffusion method. Results: Ethanol extracts of T. ornata, OA, PA and mixtures of OA and PA (1:1 showed antibacterial activities that increased significantly (least significant difference at 0.05 level with increasing concentrations against all tested bacteria. Different concentrations of ethanol extracts of T. ornata and extracted OA showed its highest activity against Bacillus subtilis, while PA and mixtures of PA and OA (1:1 showed its highest activity against Bacillus cereus. The maximum inhibition activities were shown for mixtures of OA and PA (1:1. Scanning electron microscope showed that mixtures of OA and PA (1:1 caused plasmolysis and reduction in cell size of Escherichia coli. Conclusions: Different concentrations of T. ornata and its fatty acids showed activities against all tested bacteria. Therefore, it is a potential source of natural antimicrobial compounds.

  17. Identification of Stellar Sequences in Various Stellar Systems: ESO65-SC03, Teutsch 106, Turner 6

    Science.gov (United States)

    Joshi, Gireesh C.

    2017-12-01

    The spatial morphological study of stellar clusters has been carried out through their identified probable members. The field stars decontamination is performed by the statistical cleaning approach (depends on the magnitude and colour of stars within the field and cluster regions). The colour magnitude ratio diagram (CMRD) approach is used to separate the stellar sequences of cluster systems. The age, distance and reddening of each cluster is estimated through the visual inspection of best fitted isochrone in colour magnitude diagrams (CMDs). The mean proper motion values of stellar clusters are obtained through the extracted data from PPMXL and UCAC4 catalogs. Moreover, these values vary according to the extracted data-set from these catalogues. This variation has occurred due to different estimation efficiency of proper motions. The two colour ratio (TCR) and two colour magnitude ratio (TCMR) values of each cluster is determined by utilizing the WISE and PPMXL catalogues, these values are found abnormal for Teutsch 106. In addition, the TCMR values are similar to TCR values at longer wavelength, whereas both values are far away from each other at shorter wavelength. The fraction of young stellar objects (YSOs) is also computed for each cluster.

  18. School Ritual as Performance: A Reconstruction of Durkheim's and Turner's Uses of Ritual.

    Science.gov (United States)

    Quantz, Richard A.

    1999-01-01

    Addresses the assumption that ritual performances are not as important in modern, secular, bureaucratic schools as they were in communal, sacred, tribal societies, reviving a concept forged in structuralism and redefining it as a performative text, thus taking advantage of certain poststructural insights while maintaining much of the power of its…

  19. Incidence of neuralgic amyotrophy (parsonage turner syndrome) in a primary care setting - A prospective cohort study

    NARCIS (Netherlands)

    N. van Alfen (Nens); J.J.J. van Eijk (Jeroen); T. Ennik (Tessa); S.O. Flynn (Sean O.); I.E.G. Nobacht (Inge E. G.); J.T. Groothuis (Jan); S. Pillen (Sigrid); F.A. van de Laar (Floris A.)

    2015-01-01

    textabstractObjective Neuralgic amyotrophy is considered a rare peripheral nervous system disorder but in practice seems grossly under recognized, which negatively affects care for these patients. In this study we prospectively counted the one-year incidence rate of classic neuralgic amyotrophy in a

  20. Respostas ao adoecimento: mecanismos de defesa utilizados por mulheres com síndrome de Turner e variantes

    National Research Council Canada - National Science Library

    Chvatal, Vera Lúcia Soares; Böttcher-Luiz, Fátima; Turato, Egberto Ribeiro

    2009-01-01

    ... eclético de referenciais teóricos para discussão no espírito da interdisciplinaridade. RESULTADOS: Essas mulheres apresentaram conflitos psicossociais como dificuldades de relacionamento interpessoal...

  1. Dosage of estradiol, bone and body composition in Turner syndrome: a 5-year randomized controlled clinical trial

    DEFF Research Database (Denmark)

    Cleemann, Line; Holm, Kirsten; Kobbernagel, Hanne

    2017-01-01

    mass (LBM), fat mass (FM) measured yearly be DXA-scan and resorptive and formative bone markers in serum. RESULTS: BMD, whole body and regional, increased over time with an attenuation towards the end of the study, and bone turnover markers decreased over time, both with no differences between...

  2. Effects of salinity, temperature and phosphorus concentration on the chemical composition of Gelidium crinale (Turner Lamouroux (Gelidiaceae, Rhodophyta

    Directory of Open Access Journals (Sweden)

    Lúcia Rebello Dillenburg

    2005-05-01

    Full Text Available The effects of different culture conditions (temperature, salinity and dissolved inorganic phosphorus were investigated for seven days, under controlled conditions. The maximum production of proteins occurred in cultures where the temperature was 25°C, with concentrations of 5.0 and 10.0 µM of dissolved inorganic phosphorus and salinity between 15 and 20 psu, with values varying from 2.62 to 2.83% of algae dry weight. For carbohydrates, a third-order interaction was not observed in the statistical analysis; only a second order interaction was observed between temperature and inorganic phosphorus concentrations Efeito dos parâmetros abióticos em cultivo de G. crinale (P < 0.005 and between temperature and salinity (P < 0.000. The greatest phosphorus increase in the thalli (0.80 % occurred in the lowest temperature (15 °C, associated with low salinity (10 psu and high inorganic phosphorus concentration (10.0 µM. The Pearson’s correlation coefficient revealed positive correlations (P < 0.001 among protein content, temperature and inorganic phosphorus available in the growth medium. For carbohydrates, correlations were positive with all three abiotic parameters. For tissue phosphorus, a positive correlation occurred only with dissolved inorganic phosphorus; with temperature and salinity, the correlations were negative. Among the chemical components present in the algae, proteins and carbohydrates showed a positive correlation, while tissue phosphorus presented a negative correlation with both, although this correlation was not significant with regard to protein.

  3. Professor Alan Turner (1947-2012). Specialist in Miocene-Pleistocene Carnivora, particularly Felidae and Hyaenidae and their palaeoecology

    Science.gov (United States)

    O'Regan, Hannah; Turner, Adam; Antón, Mauricio

    2014-07-01

    Alan first trained as a telecom engineer, working for the GPO (General Post Office) which later became British Telecom. He never forgot this early training and was fascinated by how things worked - always happy to take something apart and fix it (although his attempt to close a large plate glass window with a geological hammer was not one of his successes). Following a few years as an engineer, he went to Sheffield University to study archaeology as a mature student in 1973. At this time Sheffield was a hotbed of prehistory with Graeme Barker, Robin Dennell and many others contributing to a truly research-led degree (with tutorials in the pub (well, it was the 1970s)) (Fig. 1). Alan's interest in bones developed at this time, and having graduated in 1976 he went on to take a PhD, supervised by Robin Dennell, on "Aspects of the palaeoecology of large predators, including man, during the British Upper Pleistocene, with particular emphasis on predator-prey relationships" which resulted in a life-long interest in the Carnivora and particularly hyaenas. Following his PhD, Alan moved to the Environmental Archaeology Unit at York to undertake a Science Research Council project on the morphometrics of domestic cattle and pigs from Coppergate and other major urban excavations in the city. Faced with a lot of measurements and statistics, Alan retained his interest in the animals themselves. The project also confirmed to Alan that prehistory was his metier, rather than the historic periods. Former York colleagues still fondly recall Alan's dry wit, and the day that he successfully put the irritating lab telephone beyond use with no externally visible trace of damage.

  4. Faculty of Color in Academe: What 20 Years of Literature Tells Us. A Journal Article by Turner, Gonzalez, & Wood

    Science.gov (United States)

    Sky Lark, Taj'ullah

    2013-01-01

    Classrooms have become increasingly diverse within the last 10 years, and continue to be diversified; however, the majority of Universities and Colleges are operating in a crisis mode when it comes to the diversity of its faculty in particular the representation of underrepresented minorities. There has been abundance of research work done on this…

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

    DEFF Research Database (Denmark)

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

    2011-01-01

    with TS (17·0 ± 3·3 years, range 11·2-24·9 years), 50 healthy age-matched controls (16·9 ± 3·2 years, range 12·5-25·0 years) and 107 Tanner-stage-matched controls (15·0 ± 3·2 years, range 10·1-24·2). Measurements Uterine and ovarian volume by US and MRI. Results Ovaries were detected in 37% in TS by US...

  6. The Fall of Anarchy: Politics and Anatomy in an Enigmatic Painting by J.M.W. Turner

    Directory of Open Access Journals (Sweden)

    Sam Smiles

    2016-06-01

    Full Text Available The subject of Turner’s mysterious unfinished painting, known today as Death on a Pale Horse, is a problem that has baffled generations of scholars. It has been proposed that it is a response to the death of Turner’s father in 1829 or to the cholera outbreak of 1832 but these suggestions are at best circumstantial. This paper offers a new interpretation of this enigmatic painting, linking it principally to the cause of political Reform.

  7. Nonmosaic 45, XO karyotype in a woman with Turner syndrome without any cognitive, psychosocial or behavioral deficiencies (A Case report)

    OpenAIRE

    Djaswadi Dasuki, Enny S Pamuji

    2015-01-01

    A 22 year old woman with primary amenorrhea came to The Reproductive Endocrinology and Infertility Centre, University of Gadjah Mada, Dr.Sardjito Hospital. She had no abnormalities in cognitive, psychosocial or behavioral capacities, she had almost completed her university degree. On examination she had no secondary sexual development, no pathognomonic abnormal phenotype related to abnormal karyotype. There was no indication of family history associated ,;pecifically to the abnormal karyotype...

  8. SGA and Turner Syndrome: the impact of growth hormone treatment on physical and mental well-being

    NARCIS (Netherlands)

    E.M.N. Bannink (Ellen)

    2006-01-01

    textabstractBy definition, 2.3% of the children is born Small for Gestational Age (SGA), which is a length and/or height < -2 standard deviation (SD). Most children born SGA show catch-up growth during the first years of life. Approximately 10% of them remain short with a height below the normal

  9. Ecological and biochemical analyses of the brown alga Turbinaria ornata (Turner J. Agardh from Red Sea coast, Egypt

    Directory of Open Access Journals (Sweden)

    Mohamed Ali Deyab

    2016-03-01

    Full Text Available Objective: To study ecological parameters and biochemical composition of brown seaweed, Turbinaria ornata (T. ornata collected from Hurghada shores, Red Sea coast of Egypt during September, October and November, 2015. Methods: T. ornata and its associated seaweeds were collected, identified and their abundances were estimated. Water of collection site was analyzed physicochemically as well as qualitative and quantitative analyses of phytoplankton. T. ornata was analyzed for protein, total carbohydrate, lipids, alginic acid, agar, pigments, minerals and heavy metals. Results: The results showed that macroalgal species recorded along Hurghada shores belong to Phaeophyta, Rhodophyta and Chlorophyta. At collection site, the moderate temperature, slight alkaline pH, low turbidity, high dissolved oxygen and valuable nutrient content of saline water exerted the massive growth of T. ornata with maximum abundance (24% during October. The phytoplankton community was quite diverse with a maximum numbers of taxa (104.2 × 108 cell/L recorded during October. Analysis of T. ornata alga powder showed that high soluble carbohydrate (2.80 ± 0.10 mg/g dry/weight and chlorophyll c (0.001 7 ± 0.000 1 mg/g fresh weight contents were recorded during September; while high contents of protein (37.70 ± 0.60 mg/g dry weight, lipids (3.10 ± 0.06 mg/g dry weight, polysaccharides (agar and alginates, carotenoids (0.016 0 ± 0.000 4 mg/g fresh weight, minerals and heavy metals were recorded during November. Conclusions: The study revealed that physicochemical analyses of water were varied slightly during the three months and suitable for the growth of T. ornata. It contains high amount of most biochemical constituents during October.

  10. Incidence of neuralgic amyotrophy (Parsonage Turner syndrome in a primary care setting--a prospective cohort study.

    Directory of Open Access Journals (Sweden)

    Nens van Alfen

    Full Text Available Neuralgic amyotrophy is considered a rare peripheral nervous system disorder but in practice seems grossly under recognized, which negatively affects care for these patients. In this study we prospectively counted the one-year incidence rate of classic neuralgic amyotrophy in a primary care setting.In a prospective cohort study during the year 2012 we registered all new cases of neck, shoulder or arm complaints from two large primary care centers serving a population of 14,118. Prior to study, general practitioners received a short training on how to diagnose classic neuralgic amyotrophy. Neuralgic amyotrophy was defined according to published criteria irrespective of family history. Only patients with a classic phenotype were counted as definite cases. After inclusion, patients with suspected neuralgic amyotrophy who had not yet seen a neurologist were offered neurologic evaluation for diagnostic confirmation.Of the 492 patients identified with new onset neck, shoulder or arm complaints, 34 were suspected of having neuralgic amyotrophy. After neurologic evaluation the diagnosis was confirmed in 14 patients. This amounts to a one-year incidence rate for classic neuralgic amyotrophy of 1 per 1000.Our findings suggest that neuralgic amyotrophy is 30-50 times more common than previously thought. Unawareness of the disorder and its clinical presentation seems the most likely explanation for this difference. An incidence rate of 1 per 1000 and the long-term sequelae many patients suffer warrant more vigilance in diagnosing the disorder, to pave the way for timely treatment and prevent complications.

  11. Incidence of neuralgic amyotrophy (Parsonage Turner syndrome) in a primary care setting--a prospective cohort study

    NARCIS (Netherlands)

    Alfen, N. van; Eijk, J.J.J. van; Ennik, T.; Flynn, S.O.; Nobacht, I.E.; Groothuis, J.T.; Pillen, S.; Laar, F.A. van de

    2015-01-01

    OBJECTIVE: Neuralgic amyotrophy is considered a rare peripheral nervous system disorder but in practice seems grossly under recognized, which negatively affects care for these patients. In this study we prospectively counted the one-year incidence rate of classic neuralgic amyotrophy in a primary

  12. Colchicine and amiprophos-methyl (APM) in polyploidy induction in ...

    African Journals Online (AJOL)

    The objective was to assess the colchicine and amiprophos-methyl (APM) concentration and exposure period in the chromosome duplication of breed banana plants diploids. Banana stem tips were used from the following genotypes: breed diploids (1304-04 [Malaccensis x Madang (Musa acuminata spp. banksii)] and ...

  13. Commentary: Launch of a quality improvement network for evidence-based management of uncommon pediatric endocrine disorders: Turner syndrome as a prototype

    Science.gov (United States)

    Traditional, hypothesis-oriented research approaches have thus far failed to generate sufficient evidence to achieve consensus about the management of children with many endocrine disorders, partly because of the rarity of these disorders and because of regulatory burdens unique to research in child...

  14. WATER TEMPERATURE and other data from USS RICHMOND K. TURNER, USS CUSHING and other platforms from 1991-01-14 to 1992-10-29 (NCEI Accession 9300065)

    Data.gov (United States)

    National Oceanic and Atmospheric Administration, Department of Commerce — The water depth and temperature data was collected from eight ships by the US Navy. The data was collected from January 14, 1991 to October 29, 1992. 32 envelopes of...

  15. Oxidative stress response in the skin mucus layer of Goodea gracilis (Hubbs and Turner, 1939) exposed to crude oil: A non-invasive approach.

    Science.gov (United States)

    Dzul-Caamal, Ricardo; Salazar-Coria, Lucia; Olivares-Rubio, Hugo F; Rocha-Gómez, Maria Alejandra; Girón-Pérez, Manuel Iván; Vega-López, Armando

    2016-10-01

    The skin of the fish is the foremost target of oxidative stress due to the generation of Reactive Oxygen Species (ROS) originated in the environment and in the skin itself. In this study, a non-destructive assay was developed to evaluate the effects of crude oil (0.0001-0.1mg/L, 96h) on oxidative stress response in the Skin Mucus Layer (SML) of the dusky splitfin goodeid (Goodea gracilis). The response in the SML was compared with recognized target organs through the Integrated Biomarker Response (IBRv2) and a slight addition to the method was proposed. Crude oil was extremely toxic and elicited a clear induction of ROS in the SML, as in the brain, liver and muscle. By the exposure to crude, a significant change in the activities of Superoxide Dismutase (SOD), Catalase (CAT), Glutathione Peroxidase (GPx) as well as on lipid peroxidation (TBARS) and carbonyl protein (RCO) levels was detected. Also, increases in the activity of EROD were found. The general IBRv2 proposed in this study (gIBRv2) showed that oil causes the higher oxidative response in the SML (60.049) under different concentrations of petroleum, which was greater in the brain (56.749), muscle (56.561) and liver (55.775). The results of the study revealed an organ-specific antioxidant defense response that was dependent on the load of petroleum. These results contributed to the understanding of the complexity of oxidative stress response in fish exposed to crude oil using the Skin Mucus Layer as a target for environmental monitoring studies. Copyright © 2016 Elsevier Inc. All rights reserved.

  16. Exceptional lexical skills but executive language deficits in school starters and young adults with Turners syndrome: implications for X chromosome effects on brain function.

    Science.gov (United States)

    Temple, Christine M; Shephard, Elizabeth E

    2012-03-01

    TS school starters had enhanced receptive and expressive language on standardised assessment (CELF-P) and enhanced rhyme judgements, spoonerisms, and lexical decision, indicating enhanced phonological skills and word representations. There was marginal but consistent advantage across lexico-semantic tasks. On executive tasks, speeded naming of numbers was impaired but not pictures. Young TS adults had enhanced naming and receptive vocabulary, indicating enhanced semantic skills. There were consistent deficits in executive language: phonemic oral fluency, rhyme fluency, speeded naming of pictures, numbers and colours; sentence completion requiring supression of prepotent responses. Haploinsufficiency of X-chromosome drives mechanisms that affect the anatomical and neurochemical development of the brain, resulting in enhanced temporal lobe aspects of language. These strengths co-exist with impaired development of frontal lobe executive language systems. This means not only that these elements of language can decouple in development but that their very independence is driven by mechanisms linked to the X-chromosome. Copyright © 2011 Elsevier Inc. All rights reserved.

  17. Tri Community Watershed Initiative: Towns of Black Diamond, Turner Valley and Okotoks, Alberta, Canada Promoting Sustainable Behaviour in Watersheds and Communities

    Science.gov (United States)

    Maureen Lynch

    2006-01-01

    For the past two years, three rural municipalities in the foothills of the Canadian Rockies have been working together to promote sustainability in their communities. The towns share the belief that water is an integral part of the community; they have formed a Tri Community Watershed Initiative to help manage their shared resource. Activities of the Initiative include...

  18. Antinociceptive activity of sulfated carbohydrates from the red algae Bryothamnion seaforthii (Turner Kütz. and B. triquetrum (S.G. Gmel. M. Howe

    Directory of Open Access Journals (Sweden)

    G.S.B. Viana

    2002-06-01

    Full Text Available We report the antinociceptive activity, determined by the writhing, formalin and hot-plate tests in mice, of crude (F0/60, lectin and carbohydrate fractions isolated by ammonium sulfate precipitation (0 to 60% from Bryothamnion seaforthii and B. triquetrum, species of red algae. Not only fraction F0/60 but also lectins from both species significantly inhibited acetic acid-induced abdominal contractions after intraperitoneal or oral administrations. In the formalin test, lectins (1 and 5 mg/kg, ip, and 5 to 20 mg/kg, po inhibited the 1st and 2nd phases (5 and 20 min, respectively, but the effect occurred predominantly on the 2nd phase. The effects of the lectins were totally or partially reversed by naloxone (2 mg/kg, sc in the 1st and 2nd phases, respectively. Experiments performed with lectins in the absence and presence of avidin (1 mg/kg, ip and D-mannose (1 mg/kg, ip showed that avidin did not interfere with the effect of B. seaforthii lectin but partially reversed the effect of B. triquetrum lectin. D-Mannose completely reversed the effects of both species. F0/60 fractions from both algae significantly increased the latency time in response to thermal stimuli, and naloxone reversed antinociception, indicating the involvement of the opioid system in both the peripheral and central effects of the fractions. In the writhing test, the carbohydrate fractions were the most active, inhibiting the contractions by 71 and 79% (B. triquetrum and by 46 and 69% (B. seaforthii at doses of 1 and 5 mg/kg, ip, respectively. Sulfated carbohydrate fractions of B. seaforthii and B. triquetrum, containing only about 5% protein as contaminants, are probably responsible for the antinociceptive effects of these red algae.

  19. Las barriadas de Lima como estímulo a la reflexión urbana sobre la vivienda. Revisitando a Turner y de Soto

    NARCIS (Netherlands)

    Fernandez Maldonado, A.M.

    2015-01-01

    The barriadas of Lima have been the most thoroughly studied urban and social process in the field of housing and social sciences in Peru. The processes observed in them served as inspiration for two enthusiastic and influential proposals in the field of housing and urban economics, elaborated and

  20. Oscar Zanetti Lecuona, Historia mínima de Cuba. México, El Colegio de México, Turner, 2013, 342 p.

    OpenAIRE

    Santamaría García, Antonio

    2014-01-01

    Las historias breves, amén de necesarias, para la docencia, el lector interesado, y sin duda por ello, son ejercicios difíciles. El esfuerzo de síntesis no debe ir en menoscabo de la suficiencia de la información y para ello el hilo conductor del relato y el análisis ha de ser tan sencillo y claro como interesante. Por eso las buenas historias breves son siempre, y además, buenos ensayos literarios, buenos ejercicios de reflexión y una construcción intelectual de la realidad. Todas esas carac...

  1. Le personnage du Christ dans les Mystères anglais : une analyse d'après les travaux de Victor Turner

    OpenAIRE

    Tatjana Silec

    2010-01-01

    Dans les Mystères de York ou de Towneley, le Christ tient à la fois du fou de cour et du fou sage, ce qui peut sembler paradoxal mais trouve son origine dans la place accordée au fou dans la société médiévale occidentale en général. Le fou dit « sage » était, en raison du mépris dans lequel il tenait sa propre personne physique et son statut social, couvert du même opprobre que son homonyme de cour: tous deux bénéficiaient d'une liberté singulière qu'ils payaient de l'abandon de toute dignité...

  2. Relation between chemical composition of Grateloupia doryphora (Montagne Howe, Gymnogongrus griffithsiae (Turner Martius, and abiotic parameters Relação entre composição química de Grateloupia doryphora (Montagne Howe, Gymnogongrus griffithsiae (Turner Martius e parâmetros abióticos

    Directory of Open Access Journals (Sweden)

    Paulo Nelo Medeiros Perfeto

    1998-04-01

    Full Text Available In Grateloupia doryphora and Gymnogongrus griffithsiae the seasonal variation of their chemical compounds was studied, establishing a relation with the physical and chemical properties of seawater. High values of proteins in the studied species were detected during the winter, 28.88% in G. doryphora and 26.68% in G. griffithsiae, corresponding to the maximum period of ammonium concentration in the marine environment. The variation in carbohydrates content showed an inverse relation with the proteins, with a maximum of 54.72% in G. doryphora and of 55.36% in G. griffithsiae, both in summer, positively correlated with salinity and temperature of sea water. Lipids content was low in both species. In G. doryphora the values ranged between 0.81 and 1.30% and, in G. griffithsiae, from 0.71 to 1.50% of dry weight, showing a direct relation with the amount of nitrogen in the seawater. The maximum content of ashes, phosphorus and potassium occurred in autumn and winter, respectively, with 11.85%, 0.20%, 1.27% in G. doryphora, and 14.46%, 0.14%, 1.41% in G. griffithsiae.Foi estudado em Grateloupia doryphora e Gymnogongrus griffithsiae a variação sazonal de seus compostos químicos, estabelecendo uma relação com os parâmetros físico-químicos da água do mar. Durante o inverno foram detectados valores altos de proteína nas espécies estudadas, com 28,88 % em G. doryphora e 26,68 % em G. griffithsiae, correspondendo ao período de concentração máxima de amônio no ambiente marinho. A variação no conteúdo de carboidratos apresentou relação inversa à de proteínas. Os valores máximos de 54,72 % em G. doryphora e de 55,36 % em G. griffithsiae, ocorreram no verão, correlacionados positivamente com salinidade e temperatura da água do mar. Os conteúdos de lipídeos foram baixos em ambas as espécies. Em G. doryphora os valores variaram entre 0,81 e 1,30 % e em G. griffithsiae, de 0,71 a 1,50 % do peso seco, mostrando relação direta com a quantidade de nitrogênio na água do mar. O conteúdo máximo de cinzas, fósforo e potássio ocorreu no outono e inverno, respectivamente com 11,85 %, 0,20 % e 1,27 % em G. doryphora e 14,46 %, 0,14 % e 1,41 % em G. griffithsiae.

  3. 77 FR 42491 - Announcement of the Board of Trustees for the National Environmental Education Foundation

    Science.gov (United States)

    2012-07-19

    ... TBS, TNT, Turner Classic Movies and Turner South. Her other experience includes brand management for... ``Woman To Watch'' by Women in Cable Telecommunications, a Brand Builders Award at the 2006 Promax & BDA...

  4. Cities, Towns and Villages, City limit boundaries for all municipalities in Ben Hill, Brooks, Cook, Echols, Lanier, Irwin, Lowndes, Tift and Turner Counties., Published in 2010, 1:7200 (1in=600ft) scale, Southern Georgia Regional Commission.

    Data.gov (United States)

    NSGIC Regional | GIS Inventory — Cities, Towns and Villages dataset current as of 2010. City limit boundaries for all municipalities in Ben Hill, Brooks, Cook, Echols, Lanier, Irwin, Lowndes, Tift...

  5. Daniel Wildmann: Der veränderbare Körper. Jüdische Turner, Männlichkeit und das Wiedergewinnen von Geschichte in Deutschland um 1900. Tübingen: Mohr Siebeck Verlag 2009.

    Directory of Open Access Journals (Sweden)

    Martin Lücke

    2010-03-01

    Full Text Available In seiner körpergeschichtlichen Studie widmet sich Daniel Wildmann nationaljüdischen Turnvereinen in Deutschland im Zeitraum von 1898 bis 1921. Er zeichnet nach, wie sich der Entwurf eines jüdischen Turnkollektivs in politischen Auseinandersetzungen im Spannungsfeld von Zionismus und Antisemitismus im deutschen Kaiserreich verorten lässt und an welche medizinischen Diskurse die Debatten um eine körperlich-therapeutische Wirkung von Turnen anknüpften. Schwerpunkt seiner Arbeit ist jedoch das Herausarbeiten der geschlechtlichen Kodierung der jüdischen turnenden Männer- und Frauenkörper. Hier zeigt Wildmann, dass insbesondere eine eigensinnige Aneignung und Umdeutung von Vorstellungen der jüdischen Antike sowie Körperbilder einer Offiziers-Männlichkeit die Vorstellung von idealer jüdischer Männlichkeit prägten.In his study, which is informed by discourses on the history of the body, Daniel Wildmann examines national Jewish gymnastics clubs in Germany during the period from 1898 to 1921. He traces the manner in which we can locate the model of a Jewish gymnastics collective within the political debates found in the field of tension between Zionism and anti-Semitism during the German empire. Further, he pursues the question as to which medical discourses and debates connect to the physical-therapeutic effects of gymnastics. The focus of his work is, however, to address the gendered coding of Jewish gymnasts’ bodies, both male and female. Here, Wildmann shows that the conception of an ideal Jewish masculinity is determined in particular by a persistent appropriation and reinterpretation of ideas found in Jewish antiquity as well as masculine body images perpetuated by officers.

  6. What does it take to help an outgroup?

    OpenAIRE

    Jansen, Bianca G M

    2010-01-01

    The present thesis has focused on helping behaviour towards disadvantaged outgroups. Research was done at an intergroup level, and obtained its theoretical foundation from the Social Identity theory (Tajfel & Turner, 1986), self-categorization theory (Turner, 1985; Turner et al., 1987) and the empathy-altruism model (Batson, 1987, 1991; Batson et al., 1989; Batson & Shaw, 1991) and focused on the influence of identity content and ingroup norms in investigating outgroup helping. Experiments we...

  7. Browse Author Index

    African Journals Online (AJOL)

    T. Tareen, Sidra · Thomsett, S · Thorns, D · Thuva, K · Toloa, Esther · Topfer, T · Turner, D A · Turner, DA · Turner, Donald A. V. Virani, M Z. w. wa Kariuki, C · Wachira, W · Wachira, Washington · Wagura, L · Wairasho, P · Wamiti, W · Wamiti, Wanyoike · Wario, P · Watt, S 151 - 200 of 208 Items >>. ISSN: 2313- ...

  8. Usability and Tolerability of the Norditropin NordiFlex® Injection Device in Children Never Previously Treated With Growth Hormone

    Science.gov (United States)

    2014-06-23

    Growth Hormone Disorder; Growth Hormone Deficiency in Children; Genetic Disorder; Turner Syndrome; Foetal Growth Problem; Small for Gestational Age; Chronic Kidney Disease; Chronic Renal Insufficiency; Delivery Systems

  9. Facility Environmental Management System

    Data.gov (United States)

    Federal Laboratory Consortium — This is the Web site of the Federal Highway Administration's (FHWA's) Turner-Fairbank Highway Research Center (TFHRC) facility Environmental Management System (EMS)....

  10. Inclusivity, Gestalt principles, and plain language in document design.

    OpenAIRE

    Farrell, Helen

    2016-01-01

    Blog post introducing Turner & Schomberg's (2016) paper on inclusive practices in document design, using Gestalt components to illustrate the process of writing and designing material, in order to foster online discussion in the Information Literacy Journal Club. Turner, J. and Schomberg, J. (2016) ‘Inclusivity, Gestalt principles, and plain language in document design’, In the Library with the Lead Pipe.

  11. Preliminary observations of birds of Songo Songo Island, Tanzania

    African Journals Online (AJOL)

    Introduction. While the bird fauna of many East African islands is relatively well known (e.g.,. Wasini: Ryall 1994; Zanzibar: Moreau & Pakenham 1941, Pakenham 1979; Pemba: Moreau & Pakenham 1941, Pakenham 1979, Archer & Turner 1993, Catry et al. 2000;. Latham: Gwynne et al. 1970, Gerhart & Turner 1978; Mafia: ...

  12. Factors affecting reproduction in Merino ewes of the Tygerhoek flock

    African Journals Online (AJOL)

    (Turner & Dolling, 1965; Atkins, 1980; Olivier, 1982; Fourie. & Heydenrych, 1983). Reproduction in ewes is also affected by birth type. Multiple born ewes tend to be superior to singles (Turner, 1969; Van der Westhuysen, 1973; Kritzinger, Stindt & Van der West- huysen, 1984). Contradictory results were, however, reported.

  13. Hydrodynamic Interactions during Launch and Recovery of a Small Boat from a Ship in a Seaway

    Science.gov (United States)

    2014-11-28

    and Andrewartha , Thomas, Turner, and Lin [5]. The present paper examines hy- drodynamic interactions that can occur dur- ing launch and recovery of a...two ships in close proximity. Ocean Engineering, 30(8):1051–1063, 2003. [5] T. Andrewartha , G. Thomas, T. Turner, and F. Lin. Replenishment at sea

  14. Ensuring a Future for Marine Corps Operational Support Airlift (OSA)

    Science.gov (United States)

    2013-04-29

    its lift capacity and efficiency to meet the new requirements in the Pacific. History of OSA: Man has looked to the sky in wonder since the... Tommy Turner. Turner was a seasoned Marine and a well respected Marine leader. He was known for his strict discipline and made sure that Marine aviation

  15. Commentary

    Indian Academy of Sciences (India)

    Madhu

    Magic with moulds: Meiotic and mitotic crossing over in Neurospora inversions and duplications. In 1982 Barbara Turner and David Perkins reported an astonishing result; from a cross between two inver- sion strains of Neurospora crassa [In(OY348) and In(OY323)] they recovered progeny of the normal sequence (Turner ...

  16. Chromosomal study in newborn infants with congenital anomalies in ...

    African Journals Online (AJOL)

    Numerical abnormalities were found in 22 cases (21.35%) (4.4/1000), Down syndrome in 16 cases, Edward syndrome in two cases, Patau syndrome in one case and Turner syndrome (monosomy) in three cases. Structural abnormalities were present in six cases (5.83%) (1.2/1000), Down syndrome in two cases, Turner ...

  17. Brachial Plexus Injuries

    Science.gov (United States)

    ... as a result of shoulder trauma, tumors, or inflammation. There is a rare syndrome called Parsonage-Turner Syndrome, or brachial plexitis , which ... as a result of shoulder trauma, tumors, or inflammation. There is a rare syndrome called Parsonage-Turner Syndrome, or brachial plexitis , which ...

  18. Learning, cognition and ideology | Ross | South African Journal of ...

    African Journals Online (AJOL)

    Invited to give the 2000 Rick Turner Memorial Lecture, I pondered the following question: What explains the fact that the sincere thought of a brilliant and heroic person such as Turner can appear preposterous to me, if bad faith or scholarly ignorance on one side or the other are ruled out, as they should be in this case?

  19. Anmeldelse: The Writer's Handbooks 2009

    DEFF Research Database (Denmark)

    Bonde, Lars Ole

    2008-01-01

    Anmeldelse af: Barry Turner (red.) (2008) The Writer’s Handbook 2009. The complete guide for all writers, publishers, editors, agents, and broadcasts. New York: MacMillan Barry Turner (red.) (2008) The Screenwriter’s Handbook 2009. The essential companion for screenwriters. New York: MacMillan...

  20. In vitro inhibitory activities of selected Australian medicinal plant extracts against protein glycation, angiotensin converting enzyme (ACE) and digestive enzymes linked to type II diabetes.

    Science.gov (United States)

    Deo, Permal; Hewawasam, Erandi; Karakoulakis, Aris; Claudie, David J; Nelson, Robert; Simpson, Bradley S; Smith, Nicholas M; Semple, Susan J

    2016-11-04

    There is a need to develop potential new therapies for the management of diabetes and hypertension. Australian medicinal plants collected from the Kuuku I'yu (Northern Kaanju) homelands, Cape York Peninsula, Queensland, Australia were investigated to determine their therapeutic potential. Extracts were tested for inhibition of protein glycation and key enzymes relevant to the management of hyperglycaemia and hypertension. The inhibitory activities were further correlated with the antioxidant activities. Extracts of five selected plant species were investigated: Petalostigma pubescens, Petalostigma banksii, Memecylon pauciflorum, Millettia pinnata and Grewia mesomischa. Enzyme inhibitory activity of the plant extracts was assessed against α-amylase, α-glucosidase and angiotensin converting enzyme (ACE). Antiglycation activity was determined using glucose-induced protein glycation models and formation of protein-bound fluorescent advanced glycation endproducts (AGEs). Antioxidant activity was determined by measuring the scavenging effect of plant extracts against 1, 1-diphenyl-2-picryl hydrazyl (DPPH) and using the ferric reducing anti-oxidant potential assay (FRAP). Total phenolic and flavonoid contents were also determined. Extracts of the leaves of Petalostigma banksii and P. pubescens showed the strongest inhibition of α-amylase with IC50 values of 166.50 ± 5.50 μg/mL and 160.20 ± 27.92 μg/mL, respectively. The P. pubescens leaf extract was also the strongest inhibitor of α-glucosidase with an IC50 of 167.83 ± 23.82 μg/mL. Testing for the antiglycation potential of the extracts, measured as inhibition of formation of protein-bound fluorescent AGEs, showed that P. banksii root and fruit extracts had IC50 values of 34.49 ± 4.31 μg/mL and 47.72 ± 1.65 μg/mL, respectively, which were significantly lower (p < 0.05) than other extracts. The inhibitory effect on α-amylase, α-glucosidase and the antiglycation potential of the

  1. Geographic Place Names, GNIS data for Atkinson, Bacon, Ben Hill, Berrien, Brantley, Brooks, Charlton, Clinch, Coffee, Cook, Echols, Irwin, Lanier, Lowndes, Pierce, Tift, Turner, Ware counties., Published in 1999, 1:7200 (1in=600ft) scale, Southern Georgia Regional Commission.

    Data.gov (United States)

    NSGIC Regional | GIS Inventory — Geographic Place Names dataset current as of 1999. GNIS data for Atkinson, Bacon, Ben Hill, Berrien, Brantley, Brooks, Charlton, Clinch, Coffee, Cook, Echols, Irwin,...

  2. Clinical Librarian Programs May Lead to Information Behaviour Change. A review of: Urquhart, Christine, Janet Turner, Jane Durbin, and Jean Ryan. “Changes in Information Behavior in Clinical Teams after Introduction of a Clinical Librarian Service.” Journal of the Medical Library Association 95 (2007: 14‐22.

    Directory of Open Access Journals (Sweden)

    Marcy L. Brown

    2007-12-01

    Full Text Available Objective – Assess whether the North Wales Clinical Librarian service changed the information behaviour of team clinicians. Specific objectives were to: • Assess which services were used. • Estimate the effects of training on clinician search patterns and search times. • Examine the benefits of services regarding clinical governance. • Examine the effects of training on clinician confidence. • Explore factors affecting librarian-clinician collaboration. Design – Observational, longitudinal evaluation through:1. Librarian reflective diaries2. Baseline and final questionnaire surveys3. In‐person and telephone interviews between surveysSetting – Three National Health Service (NHS Hospital Trusts in North Wales, UK. These included North West Wales, Conwy & Denbighshire, and North East Wales.Subjects – Physicians, nurses, and allied clinical staff working with clinical librarians in one of the above three NHS Trusts.Methods – The evaluation period ran from November 2003 through January 2005. Data collected varied between Trusts, since program activities varied across locations. Questionnaire data was analyzed with Excel; interview data was analyzed with QSR N6. North East Wales/Conwy & Denbighshire: In these two Trusts, baseline questionnaires were distributed in April 2004; interviews were conducted between July and October 2004, and final questionnaires were distributed in December 2004. Sixty‐nine baseline questionnaires were returned from the April distribution, and 57 final questionnaires were returned in December. Additionally, 33 face‐to‐face and telephone interviews were conducted between Julyand October. North West Wales: Immediate post‐training feedback was collected from 90 participants; questionnaires sent one month after training had only a 32% response rate (24 of 75 questionnaires. Twelve interviews were conducted.Results – Interviews at all sites demonstrated a conflict between wanting the librarian to perform searches for the clinical teams, and the clinicians needing or wanting more independence through greater search skills. The librarian reflective diaries showed a change in practice over the evaluation period. Administrative duties lessened and more time was spent on searching or teaching. North East Wales/Conwy & Denbighshire: Although a greater percentage of medical staff reported using NHS and library Web sites by the end of the evaluation period (70.7% versus 59.4%, a larger percentage felt overwhelmed by the amount of information retrieved (68.3% versus 60.9%. At baseline, more than 50% wished to spend less than 10 minutes on a search of “general importance but not of personal interest” (18, but follow up indicated that the number of physicians expecting to spend that small amount of time had dropped to 36%. Among nurses and allied professionals, changes in information behaviour were fewer. The interviews confirmed that information provided by a clinical librarian affected patient management and/or therapy; patient diagnosis was not affected. One interview indicated that cost savings had resulted from information provided by a clinical librarian. Forty‐five percent of interviewees felt that their search skills had improved. North West Wales: Ninety‐nine percent of session attendees rated training programs highly. Although feedback indicated a desire for more training, 88.9% did feel more confident about their search abilities immediately following a program. The one month‐post‐training questionnaire had avery low response rate (32%, but over 54% of those responding did believe that their skills had improved. But one month later, 12 interviews reported that “initial enthusiasm had usually tapered off” (20, and those interviewed weren’t sure if they really had better skills. Conclusions – While findings weren’t conclusive, they suggest that having a librarian participate on a clinical team does lead to changes in information behaviour. Staff members were more confident searchers, more willing to search for information, and more willing to delegate that task to a librarian. The study also suggests that library services may be effectively targeted to specific groups of clinicians, and may have an impact on patient care.

  3. Combustion-driven oscillation in a furnace with multispud-type gas burners. 4th Report. Effects of position of secondary air guide sleeve and openness of secondary air guide vane on combustion oscillation condition; Multispud gata gas turner ni okeru nensho shindo. 4. Nijigen kuki sleeve ichi oyobi nijigen kuki vane kaido no shindo reiki ni oyobosu eikyo

    Energy Technology Data Exchange (ETDEWEB)

    Akiyama, I.; Okiura, K.; Baba, A.; Orimoto, M. [Babcock-Hitachi K.K., Tokyo (Japan)

    1994-07-25

    Effects of the position of a secondary air guide sleeve and the openness of a secondary air guide vane on combustion oscillation conditions were studied experimentally for multispud-type gas burners. Pressure fluctuation in furnaces was analyzed with the previously reported resonance factor which was proposed as an index to represent the degree of combustion oscillation. As a result, the combustion oscillation region was largely affected by both position of a guide sleeve and openness of a guide vane. As the openness having large effect on the ratio of primary and secondary air/tertiary air and the position hardly having effect on the ratio were adjusted skillfully, the burner with no combustion oscillation region was achieved in its normal operation range. In addition, as the effect of preheating combustion air was arranged with a standard flow rate or mass flow flux of air, it was suggested the combustion oscillation region due to preheating can be described with the same manner as that due to no preheating. 5 refs., 8 figs.

  4. New Lepidium (Brassicaceae) from New Zealand

    Science.gov (United States)

    de Lange, P. J.; Heenan, P. B.; Houliston, G. J.; Rolfe, J. R.; Mitchell, A. D.

    2013-01-01

    Abstract A revision of the New Zealand endemic Lepidium oleraceum and allied species is presented. Sixteen species are recognised, 10 of these are new. The new species are segregated on the basis of morphological characters supported by molecular data obtained from three DNA markers (two rDNA and one cpDNA). One species, Lepidium castellanum sp. nov., is endemic to the Kermadec Islands where it is sympatric with Lepidium oleraceum. The North Island of New Zealand supports four species, with two of them, Lepidium amissum sp. nov. and Lepidium obtusatum, now extinct. The South Island supports six species, that, aside from Lepidium banksii, Lepidium flexicaule and Lepidium oleraceum, are all confined to the south-eastern half of the island (Lepidium aegrum sp. nov., Lepidium crassum sp. nov. and Lepidium juvencum sp. nov.). One of these, Lepidium juvencum sp. nov., extends to Stewart Island. The Chatham Islands support six species (Lepidium flexicaule, Lepidium oblitum sp. nov., Lepidium oleraceum, Lepidium oligodontum sp. nov., Lepidium panniforme sp. nov., and Lepidium rekohuense sp. nov.), one of which, Lepidium oligodontum sp. nov., extends to the Antipodes Islands group. The remote, subantarctic Bounty Islands group supports one endemic, Lepidium seditiosum sp. nov., which is the only vascular plant to be recorded from there. Lepidium limenophylax sp. nov. is known from islands off the south-western side of Stewart Island/Rakiura, The Snares and Auckland islands. Lepidium naufragorum, although not related to Lepidium oleraceum and its allies, is also treated because populations with entire leaves are now known. Typification is undertaken for Lepidium banksii, Lepidium oleraceum, Lepidium oleraceum var. acutidentatum, var. frondosum and var. serrulatum. PMID:23794938

  5. Traditional Banana Diversity in Oceania: An Endangered Heritage

    Science.gov (United States)

    Kagy, Valérie; Wong, Maurice; Vandenbroucke, Henri; Jenny, Christophe; Dubois, Cécile; Ollivier, Anthony; Cardi, Céline; Mournet, Pierre; Tuia, Valérie; Roux, Nicolas; Doležel, Jaroslav; Perrier, Xavier

    2016-01-01

    This study aims to understand the genetic diversity of traditional Oceanian starchy bananas in order to propose an efficient conservation strategy for these endangered varieties. SSR and DArT molecular markers are used to characterize a large sample of Pacific accessions, from New Guinea to Tahiti and Hawaii. All Pacific starchy bananas are shown of New Guinea origin, by interspecific hybridization between Musa acuminata (AA genome), more precisely its local subspecies M. acuminata ssp. banksii, and M. balbisiana (BB genome) generating triploid AAB Pacific starchy bananas. These AAB genotypes do not form a subgroup sensu stricto and genetic markers differentiate two subgroups across the three morphotypes usually identified: Iholena versus Popoulu and Maoli. The Popoulu/Maoli accessions, even if morphologically diverse throughout the Pacific, cluster in the same genetic subgroup. However, the subgroup is not strictly monophyletic and several close, but different genotypes are linked to the dominant genotype. One of the related genotypes is specific to New Caledonia (NC), with morphotypes close to Maoli, but with some primitive characters. It is concluded that the diffusion of Pacific starchy AAB bananas results from a series of introductions of triploids originating in New Guinea area from several sexual recombination events implying different genotypes of M. acuminata ssp. banksii. This scheme of multiple waves from the New Guinea zone is consistent with the archaeological data for peopling of the Pacific. The present geographic distribution suggests that a greater diversity must have existed in the past. Its erosion finds parallels with the erosion of cultural traditions, inexorably declining in most of the Polynesian or Melanesian Islands. Symmetrically, diversity hot spots appear linked to the local persistence of traditions: Maoli in New Caledonian Kanak traditions or Iholena in a few Polynesian islands. These results will contribute to optimizing the

  6. Traditional Banana Diversity in Oceania: An Endangered Heritage.

    Directory of Open Access Journals (Sweden)

    Valérie Kagy

    Full Text Available This study aims to understand the genetic diversity of traditional Oceanian starchy bananas in order to propose an efficient conservation strategy for these endangered varieties. SSR and DArT molecular markers are used to characterize a large sample of Pacific accessions, from New Guinea to Tahiti and Hawaii. All Pacific starchy bananas are shown of New Guinea origin, by interspecific hybridization between Musa acuminata (AA genome, more precisely its local subspecies M. acuminata ssp. banksii, and M. balbisiana (BB genome generating triploid AAB Pacific starchy bananas. These AAB genotypes do not form a subgroup sensu stricto and genetic markers differentiate two subgroups across the three morphotypes usually identified: Iholena versus Popoulu and Maoli. The Popoulu/Maoli accessions, even if morphologically diverse throughout the Pacific, cluster in the same genetic subgroup. However, the subgroup is not strictly monophyletic and several close, but different genotypes are linked to the dominant genotype. One of the related genotypes is specific to New Caledonia (NC, with morphotypes close to Maoli, but with some primitive characters. It is concluded that the diffusion of Pacific starchy AAB bananas results from a series of introductions of triploids originating in New Guinea area from several sexual recombination events implying different genotypes of M. acuminata ssp. banksii. This scheme of multiple waves from the New Guinea zone is consistent with the archaeological data for peopling of the Pacific. The present geographic distribution suggests that a greater diversity must have existed in the past. Its erosion finds parallels with the erosion of cultural traditions, inexorably declining in most of the Polynesian or Melanesian Islands. Symmetrically, diversity hot spots appear linked to the local persistence of traditions: Maoli in New Caledonian Kanak traditions or Iholena in a few Polynesian islands. These results will contribute to

  7. Traditional Banana Diversity in Oceania: An Endangered Heritage.

    Science.gov (United States)

    Kagy, Valérie; Wong, Maurice; Vandenbroucke, Henri; Jenny, Christophe; Dubois, Cécile; Ollivier, Anthony; Cardi, Céline; Mournet, Pierre; Tuia, Valérie; Roux, Nicolas; Doležel, Jaroslav; Perrier, Xavier

    2016-01-01

    This study aims to understand the genetic diversity of traditional Oceanian starchy bananas in order to propose an efficient conservation strategy for these endangered varieties. SSR and DArT molecular markers are used to characterize a large sample of Pacific accessions, from New Guinea to Tahiti and Hawaii. All Pacific starchy bananas are shown of New Guinea origin, by interspecific hybridization between Musa acuminata (AA genome), more precisely its local subspecies M. acuminata ssp. banksii, and M. balbisiana (BB genome) generating triploid AAB Pacific starchy bananas. These AAB genotypes do not form a subgroup sensu stricto and genetic markers differentiate two subgroups across the three morphotypes usually identified: Iholena versus Popoulu and Maoli. The Popoulu/Maoli accessions, even if morphologically diverse throughout the Pacific, cluster in the same genetic subgroup. However, the subgroup is not strictly monophyletic and several close, but different genotypes are linked to the dominant genotype. One of the related genotypes is specific to New Caledonia (NC), with morphotypes close to Maoli, but with some primitive characters. It is concluded that the diffusion of Pacific starchy AAB bananas results from a series of introductions of triploids originating in New Guinea area from several sexual recombination events implying different genotypes of M. acuminata ssp. banksii. This scheme of multiple waves from the New Guinea zone is consistent with the archaeological data for peopling of the Pacific. The present geographic distribution suggests that a greater diversity must have existed in the past. Its erosion finds parallels with the erosion of cultural traditions, inexorably declining in most of the Polynesian or Melanesian Islands. Symmetrically, diversity hot spots appear linked to the local persistence of traditions: Maoli in New Caledonian Kanak traditions or Iholena in a few Polynesian islands. These results will contribute to optimizing the

  8. Dynamical Properties of Two-Dimensional Josephson Junction Arrays

    Science.gov (United States)

    1990-05-01

    steps. In this regime the step widths are found to be identical to the ac voltage-biased step widths. It can be shown (see Van Duzer and Turner, 1981, p...to the ’washboard’ model for single junctions, where the current term is included in the ’effective’ potential (see Van Duzer and Turner, 1981, pp. 179...Diego, 1989), pp. 91-134. Van Duzer , T., and C. W. Turner, Principles of Superconductive Devices and Circuits (Elsevier North Holland, New York, 1981

  9. We Need to Talk about Cultural Studies

    Directory of Open Access Journals (Sweden)

    Justin O'Connor

    2012-09-01

    Full Text Available A review of Graeme Turner, What’s Become of Cultural Studies (Sage, London, 2012 and Lawrence Grossberg, Cultural Studies in the Future Tense (Duke University Press, Durham, 2010.

  10. TOPOI Y ESPACIOS MENTALES

    National Research Council Canada - National Science Library

    Jesús Portillo Fernández

    2017-01-01

      Diachronic review of the concepts "topoi" and "mental spaces". Pragmatic analysis of the types of conceptual blending presented by Fauconnier and Turner regarding the creation of argumentative guarantors...

  11. Disease: H01968 [KEGG MEDICUS

    Lifescience Database Archive (English)

    Full Text Available ... AUTHORS ... Grimbacher B, Holland SM, Puck JM ... TITLE ... Hyper-IgE syndromes. ... ...S ... Zhang Q, Davis JC, Lamborn IT, Freeman AF, Jing H, Favreau AJ, Matthews HF, Davis J, Turner ML, Uzel G, Holland

  12. PCOS: What Teens Need to Know

    Science.gov (United States)

    ... Turner Syndrome Featured Resource Find an Endocrinologist Search PCOS for Teens September 2013 Download PDFs English Espanol ... PCOS Challenge womenshealth.gov Teens Health What is PCOS? PCOS, which stands for polycystic ovary syndrome, is ...

  13. Ethnic Stereotypes – Impediments or Enhancers of Social Cognition?

    National Research Council Canada - National Science Library

    Ajtony, Zsuzsanna

    2011-01-01

    ... (Tajfel and Turner 1986). It offers a comparison of related concepts such as prejudice (Gadamer 1984) and attitude (Cseresnyési 2004) and relies on stereotype definition developed by Hilton and Hippel...

  14. PRESSURE - WATER and Other Data from EASTWARD and Other Platforms From Gulf of Mexico from 19750311 to 19770509 (NODC Accession 8000017)

    Data.gov (United States)

    National Oceanic and Atmospheric Administration, Department of Commerce — Microfiche publication of the Mississippi Delta Bight Studies, Offshore Primary Production (R/E-5), Louisiana Sea Grant Program, was submitted by R.E. Turner and...

  15. Isolated pons involvement in Posterior Reversible Encephalopathy Syndrome: Case report and review of the literature

    Directory of Open Access Journals (Sweden)

    Mariangela Ferrara

    2017-03-01

    Conclusions: Though isolated infratentorial involvement in PRES recognizes several causes, hypertension, which is a common feature in Turner syndrome, would have played a key role in our case with solely pons MRI T2-hyperintensity.

  16. 77 FR 5006 - Combined Notice of Filings #1

    Science.gov (United States)

    2012-02-01

    ... Project, Limited Partnership, Southern Company--Florida LLC, Southern Turner Cimarron I, LLC. Description...: Dominion Energy Marketing, Inc. Description: Compliance Filing--Designation of Filer to be effective 1/24...

  17. Markko Märtin : sain maailma parima kaardilugeja

    Index Scriptorium Estoniae

    2005-01-01

    Markko Märtin rääkis ajakirjale Autosport traagilisest avariist ja hukkunud kaardilugejast Michael Parkist. Michael Parki meenutavad: Robert Reid, Paul Turner, Sebastien Loeb, David Higgins, Malcolm Wilson, Daniel Elena, David Evans

  18. Workshop on Populations & Crowds: Dynamics, Disruptions and their Computational Models

    Science.gov (United States)

    2015-01-01

    18. Mark Turner, Cognitive Science, Case Western Reserve 19. Arvind Verma, Criminology , Indiana University 20. Nick Weller, USC Political Science...21. Wendy Wood, USC Social Psychology In addition, several key researchers from federal government agencies were also invited. These

  19. Fiscal years 2007 and 2008 : representative examples of completed RD&T projects and activities

    Science.gov (United States)

    2009-06-01

    The tables in this document correspond to major offices and initiatives at the Federal Highway Administration's Office of Research, Development, and Technology (RD&T), located at the Turner-Fairbank Highway Research Center. The tables provide represe...

  20. Libraries in Maine: MedlinePlus

    Science.gov (United States)

    ... this page: https://medlineplus.gov/libraries/maine.html Libraries in Maine To use the sharing features on ... please enable JavaScript. Auburn Central Maine Community College Library 1250 Turner Street Auburn, ME 04210-6498 207- ...

  1. Fluid inclusion, geochemical, Rb-Sr and Sm-Nd isotope studies on ...

    Indian Academy of Sciences (India)

    10

    . 399 geochemical and geochronological similarities (Torsvik et al. 2001b; Ashwal et al. 400. 2002; Pandit et al. 2003; Collins 2006, Pradhan et al. 2010). In Australia,. 401. Neoproterozoic magmatism is reported of 850-780 Ma (Turner et al.

  2. The hypothesis of contact in nursing: a narrative review of the literature

    National Research Council Canada - National Science Library

    Marletta, Giuseppe; Artioli, Giovanna; Sarli, Leopoldo; Mancini, Tiziana

    2015-01-01

    ... side, the Social Identity Theory of Tajfel and Turner, according to which the comparison between people belonging to different groups may actually generate an attitude of ingroup favoritism and outgroup discrimination...

  3. Pop / Tristan Priimägi

    Index Scriptorium Estoniae

    Priimägi, Tristan, 1976-

    2008-01-01

    Heliplaatidest: She & Him "Volume One", James Morrison "Songs For You, Truths For Me", Pussycat Dolls "Doll Domination", Tina Turner "Tina!", Keane "Perfect Symmetry", Kings Of Leon "Only By The Night"

  4. Faces of the Naval War College: An Illustrated Catalogue of the U.S. Naval War College’s Collection of Portrait Paintings and Busts

    Science.gov (United States)

    2009-09-01

    Maine. The artist, Ernest Fosbery (b. 1874), was a Canadian artist who had studied with F. Brownell in Ottawa and then with the French academic...particularly influential role in supporting and furthering the work of the Naval War College. 65 Admiral Richmond Kelly Turner Oil on Canvas Albert Murray, ca...1945 Loan from the Navy Art Collection, Naval History and Heritage Command Richmond Kelly Turner (1885 – 1961) graduated from the Naval War

  5. Browse Author Index

    African Journals Online (AJOL)

    Items 51 - 69 of 69 ... A B C D E F G H I J K L M N O P Q R S T U V W X Y Z All. T. Touliabah, Hussein E · Traynor, Catherine H · Truter, M · Tsheboeng, G · Tubatsi, G · Tudararo-Aherobo, LE · Tumwebaze, Rhoda · Turki, S · Turner, Clive R · Turner, GF · Turpie, JK · Turton, AR · Tweddle, D · Tweddle, Denis · Tweddle, Denis

  6. Cannon Reservoir Human Ecology Project. Volume 1. Euro-American Pioneer Settlement Systems in the Central Salt River Valley of Northeast Missouri.

    Science.gov (United States)

    1984-01-01

    provide functional infor- Turner thesis (discussed below). More recently, histori- mation on occupations, agriculture, and wealth differ- cal...a few who later resold it supplemented by vegetables such as peas, beans, okra , at a profit to actual settlers. Sixty percent of land grants collards...in promoting land who did not have the cash to buy it from the federal denincracv, which is part of the Turner thesis . Curti government. This dispute

  7. Trust and the 442nd Regimental Combat Team

    Science.gov (United States)

    2016-05-26

    World War II was substantially less then Turner, Lovell adopted many of Turner’s views on Japanese-Americans.79 Turner and Lovell were not only...is a certain level of interpretation for application. Although World War II leadership doctrine does not reflect all of the lessons learned in the...Combat Team was a segregated organization comprised of Japanese-Americans from Hawaii and internment camps across the mid-west during World War II

  8. The Necessity of a Good Fight: A Multicultural Approach to Productive Conflict in Operational Level Staffs

    Science.gov (United States)

    2008-04-23

    Tajfel and Turner , J. C. “An Integrative Theory of Intergroup Conflict,” ed. W. G. Austin & S. Worchel, The Social Psychology of... theories ( Social Identity Theory and Realistic Conflict Theory ) and anecdotal evidence highlight the significant challenges of creating productive...RAND_MG379.pdf (accessed 17 March 2008). Tajfel , H., & Turner , J. C. “An Integrative Theory of Intergroup Conflict,” ed. W. G. Austin & S. Worchel,

  9. Recruitment, Retention, Mobilization, and Training of the Woman Chaplain

    Science.gov (United States)

    1981-11-18

    Worship. New York: Harper and Row. Newcomb , Theodore M., Ralph H. Turner and Philip E. Converse 1965 Social and Psychology: The Study of Human...and Tom Neufer-Euswiler 1974 Women and Worship. New York: Harper and Row. Newcomb , Theodore M., Ralph H. Turner and Philip E. Converse 1965 Social and...Jr. and Lee Taylor 1971 "Differential Recruitment of Female Professionals: A Case Study of Clergyworen," in Athena Theodore , ed., The Professional

  10. Residual analysis for spatial point processes

    DEFF Research Database (Denmark)

    Waagepetersen, Rasmus Plenge

    2005-01-01

    Discussion of the paper "Residual analysis for spatial point processes" by A. Baddeley, M. Hazelton, J. Møller and R. Turner. Journal of the Royal Statistical Society, Series B, vol. 67, pages 617-666, 2005.......Discussion of the paper "Residual analysis for spatial point processes" by A. Baddeley, M. Hazelton, J. Møller and R. Turner. Journal of the Royal Statistical Society, Series B, vol. 67, pages 617-666, 2005....

  11. Testing the first neutron mirror flipper

    Energy Technology Data Exchange (ETDEWEB)

    Pleshanov, N.K., E-mail: pnk@pnpi.spb.ru [Neutron Research Department, Petersburg Nuclear Physics Institute, NRC “Kurchatov Institute”, Orlova Roscha, Gatchina, St. Petersburg 188300 (Russian Federation); Syromyatnikov, V.G. [Neutron Research Department, Petersburg Nuclear Physics Institute, NRC “Kurchatov Institute”, Orlova Roscha, Gatchina, St. Petersburg 188300 (Russian Federation); Physical Department, St. Petersburg State University, Ulyanovskaya, 1, Petrodvorets, St. Petersburg 198504 (Russian Federation)

    2016-11-21

    The first neutron mirror flipper built as a magnetic Co{sub 70}Fe{sub 30} (71.1 nm) layer on a non-magnetic periodic multilayer {NiMo(6.96 nm)/Ti(6.17 nm)}×20 was tested. Its efficiency at the Bragg peak was found to exceed 0.966. Thus, the possibility of producing neutron mirror spin turners, including π/2- and π-turners (flippers), was experimentally demonstrated.

  12. ROSS: An Object-Oriented Language for Constructing Simulations.

    Science.gov (United States)

    1984-12-01

    W. Giarla, S. Narain, E. Cesar , and S. Turner, R-3158-AF, October 1984. Fast Concurrent Simulation Using the Time Warp Mechanism, Part I: Local Contru... Villanueva , and H. M. Markowitz, The Simscript H Pmoramming Language, Prentice-Hall, Englewood Cliffs, New Jersey, 1968. Klahr, P., J. Ellis, W. Giarla, S...Narain, E. Cesar , and S. Turner, TWIRL Tactical Warfare in the ROSS Lanuage, The Rand Corporation, R.3158-AF, October 1984. Klahr, P., and W. S

  13. Case report: Goldenhar syndrome following donor oocyte IVF.

    Science.gov (United States)

    Gittins, Victoria; Kasraie, Jason

    2010-09-01

    To describe a case of Goldenhar syndrome in a couple receiving donated oocytes in an 'egg sharing' IVF cycle where the recipient of donor oocytes had Turner syndrome, hypothyroidism and gestational diabetes. Case report Child born to oocyte recipient with Goldenhar syndrome We believe this is the first reported case of a child born with Goldenhar syndrome following use of donated oocytes in IVF by a woman with Turner syndrome, hypothyroidism and gestational diabetes.

  14. Micromorphology and Histochemistry of the Laticifers from Vegetative Organs of Asclepiadoideae species (Apocynaceae

    Directory of Open Access Journals (Sweden)

    Diego DEMARCO

    2014-08-01

    Full Text Available Micromorphology and main substances of the laticifer walls and latex of Asclepias curassavica, Fischeria stellata, Gonioanthela axillaris, Matelea denticulata, and Oxypetalum banksii were analyzed and compared with those of Apocynacean Cerrado species. Laticifers of the studied species from different rainforest vegetations exhibit similar features. The walls are primary, highly hydrated, pectic-cellulosic, and firmly attached to adjacent cell walls. The latex is milky white, constituted by polysaccharides, including mucilage, proteins, lipids, including fatty acids, phenolic compounds, and alkaloids; however, Fischeria and Gonioanthela differ from the other species for also producing neutral lipids. The latex of the investigated species is related to plant defense against herbivory, and may be toxic and inhibit microorganism proliferation. Also, it can coagulate, sealing plants wounds and working as a physical barrier. These latex properties provide greater adaptive advantage to these plants in relation to non-latescent plants.MICROMORFOLOGÍA E HISTOQUÍMICA DE LOS LATICÍFEROS DE ÓRGANOS VEGETATIVOS DE ESPECIES DE ASCLEPIADOIDEAE (APOCYNACEAELa micromorfología y las principales clases de componentes de las paredes de los laticíferos y del látex de Asclepias curassavica, Fischeria stellata, Gonioanthela axillaris, Matelea denticulata y Oxypetalum banksii, fueron analizadas y comparadas con las de especies de Apocynaceae de Cerrado. Los laticíferos de las especies estudiadas de diferentes tipos de bosques presentan características semejantes. Las paredes son primarias, altamente hidratadas, pecto-celulósicas y fuertemente adheridas a las paredes de las células adyacentes. El látex es blanco lechoso, constituido por polisacáridos, incluyendo mucílago, proteínas, lípidos, incluyendo ácidos grasos, compuestos fenólicos e alcaloides. Fischeria y Gonioanthela difieren de las demás especies por producir lípidos neutros. El látex de

  15. The Multiverse and Divine Creation

    Directory of Open Access Journals (Sweden)

    Michael Almeida

    2017-11-01

    Full Text Available I provide the account of divine creation found in multiverse theorists Donald Turner, Klaas Kraay, and Tim O’Connor. I show that the accounts Kraay and Turner offer are incoherent. God does not survey all possible worlds and necessarily actualize those universes in the (on balance good worlds or the worthy worlds. If God necessarily actualizes the multiverse, we have no idea which universes are parts of that multiverse. I show next that Tim O’Connor’s multiverse account of creation is also incoherent. I argue that a preferable multiverse would include a much greater variety of universes than are included in Turner, Kraay or O’Connor. In the last section I offer some concluding remarks.

  16. Cryptophlebia Walsingham, 1900, Thaumatotibia Zacher, 1915, and Archiphlebia Komai & Horak, 2006, in Australia (Lepidoptera: Tortricidae: Olethreutinae: Grapholitini).

    Science.gov (United States)

    Horak, Marianne; Komai, Furumi

    2016-10-31

    The Australian species of the grapholitine genera Cryptophlebia Walsingham, 1900, Thaumatotibia Zacher, 1915 and Archiphlebia Komai & Horak, 2006, are revised, described and illustrated. A key to species is provided. Five named species of Cryptophlebia, C. ombrodelta (Lower), C. iridosoma (Meyrick), C. rhynchias (Meyrick) and C. pallifimbriana Bradley, are redescribed and three new species, C. wraggae, sp. nov., C. stigmata, sp. nov., and C. caulicola, sp. nov., are described. Cryptophlebia amblyopa Clarke, described from Micronesia, is synonymised with C. iridosoma. Cryptophlebia caulicola, sp. nov., is a borer in twigs of Acacia mangium Willd. in northern Queensland. Thaumatotibia aclyta (Turner) and T. zophophanes (Turner) are redescribed and the new species T. maculata, sp. nov., is described. Fruit of Acronychia spp. (Rutaceae) have been identified as native hosts of T. zophophanes, a pest species which damages macadamia (Proteaceae) and avocado (Lauraceae) on the Atherton Tableland. Archiphlebia endophaga (Meyrick) and A. rutilescens (Turner) are redescribed, and the new species A. gilva, sp. nov., is described.

  17. Riding the waves of culture understanding cultural diversity in business

    CERN Document Server

    Trompenaars, Fons

    1993-01-01

    The definitive guide to cross-cultural management--updated to help you lead effectively during a time of unprecedented globalization First published nearly 20 years ago, Riding the Waves of Culture became the standard guide to conducting business in an international context. Now, the third edition provides you with important new information and groundbreaking methods for leading effectively in the most globalized business landscape ever. Fons Trompenaars is a world expert on international management and founder and director of Trompenaars Hampden-Turner (THT), a consulting firm in the field of intercultural management. Charles Hampden-Turner is a Senior Research Associate at the Judge Business School at the University of Cambridge and cofounder and Director of Research and Development at the Trompenaars-Hampden-Turner Group.

  18. Gruplar arası temas, kaygı ve yanlılığın sosyal mesafeye etkisi: Türk ve Kürt kökenli gruplar üzerine bir çalışma

    OpenAIRE

    GÜLER, Meltem

    2013-01-01

    Son altmış yıldır gruplar arasındaki ilişkiler incelenmektedir. Allport (1954), Amir (1969), Şerif (1966), LeVine ve Campbell (1972) ve Tajfel ve Turner (1979) gruplararası ilişkilere yoğunlaşan ilk isimler olmuştur. 1980’lerde Tajfel ve Turner (1979) Sosyal Kimlik Kuramını ve izleyen yıllarda Turner ve arkadaşları (1987) Kendini Sınıflandırma Kuramını ortaya koyarak gruplar arasındaki ilişkileri daha geniş bir bakış açısından ele alınmasını sağlamıştır. Sosyal Kimlik Kuramı, sosyal ...

  19. The macrophage low-grade inflammation marker sCD163 is modulated by exogenous sex steroids

    DEFF Research Database (Denmark)

    Thomsen, Henrik Holm; Møller, Holger Jon; Trolle, Christian

    2013-01-01

    Soluble CD163 (sCD163) is a novel marker linked to states of low grade inflammation such as diabetes, obesity, liver disease and atherosclerosis, all prevalent in subjects with Turner and Klinefelter Syndromes. We aimed to assess the levels of sCD163 and the regulation of sCD163 in regards...... to treatment with sex hormone therapy in males with and without Klinefelter Syndrome and females with and without Turner Syndrome. Males with Klinefelter Syndrome (n=70) and age-matched controls (n=71) participating in a cross-sectional study and 12 healthy males from an experimental hypogonadism study....... Females with Turner Syndrome (n=8) and healthy age- matched controls (n=8) participating in a randomized cross-over trial. The intervention comprised of treatment with sex steroids. Males with Klinefelter Syndrome had higher levels of sCD163 compared with controls (1.75 (0.47-6.90) and 1.36 (0...

  20. Great Britain in the Age of Sail: Scarce Resources, Ruthless Actions and Consequences

    Science.gov (United States)

    2015-04-01

    combatants amounted to about 250, but some 2000 civilians were killed and many more rendered homeless .74 This apparently unprovoked British attack on an...Second British Empire, 134-125. 89 L.C.F. Turner, “The Cape of Good Hope and the Anglo-French Conflict, 1797-1806,” Historical Studies: Australia and...23-46. Turner, L.C.F. "The Cape of Good Hope and the Anglo-French Conflict, 1797-1806." Historical Studies: Australia and New Zealand, vol. 2

  1. 'Teenage Wildlife'

    OpenAIRE

    Johnson, Esther

    2011-01-01

    Curatorial videotheque project for the exhibition 'Nothing in the World But Youth' at Turner Contemporary, Margate, 17 September 2011 – 8 January 2012\\ud Article included in exhibition catalogue for 'Nothing in the World But Youth' Turner Contemporary pp. 17-25 \\ud \\ud Accompanying catalogue Text:\\ud \\ud TEENAGE WILDLIFE\\ud “You're tearing me apart!...You say one thing, he says another, and everybody changes back again”. \\ud – James Dean as Jim Stark in Rebel Without a Cause (1955) directed b...

  2. Advective collisions

    OpenAIRE

    Andersson, B.; Gustavsson, K.; Mehlig, B.; Wilkinson, M.

    2007-01-01

    Small particles advected in a fluid can collide (and therefore aggregate) due to the stretching or shearing of fluid elements. This effect is usually discussed in terms of a theory due to Saffman and Turner [J. Fluid Mech., 1, 16-30, (1956)]. We show that in complex or random flows the Saffman-Turner theory for the collision rate describes only an initial transient (which we evaluate exactly). We obtain precise expressions for the steady-state collision rate for flows with small Kubo number, ...

  3. A Crystal-Plasticity FEM Study on Effects of Simplified Grain Representation and Mesh Types on Mesoscopic Plasticity Heterogeneities (Postprint)

    Science.gov (United States)

    2012-06-09

    HETEROGENEITIES (POSTPRINT) M.A. Groeber , T.J. Turner, D.M. Dimiduk, C.F. Woodward, and M.D. Uchic AFRL/RXCM Y.S. Choi and T.A. Parthasarathy UES, Inc... Groeber , T.J. Turner, D.M. Dimiduk, C.F. Woodward, and M.D. Uchic - AFRL/RXCM Y.S. Choi and T.A. Parthasarathy - UES, Inc. 5d. PROJECT NUMBER 4349...15] A. Rollett, R. Lebensohn, M. Groeber , Y. Choi, J. Li, G. Rohrer, Modell. Simul. Mater. Sci. Eng. 18 (2010) 074005. 16] C. Przybyla, D. McDowell

  4. Identités représentées et représentations identitaires :effets des contextes comparatif et sociopolitique sur la signification psychologique des appartenances géopolitiques.

    OpenAIRE

    Licata, Laurent

    2000-01-01

    Etude des relations entre représentations sociales et identités sociales dans le domaine des appartenances géopolitiques (régions, nations, Europe). L'introduction explore les liens conceptuels entre la théorie des Représentations Sociales (Moscovici, 1961) et les théories de l'Identité Sociale (Tajfel & Turner, 1986) et de l'Auto-catégorisation (Turner et al. 1987). Ces liens sont ensuite étudiés au travers de trois séries d'études empiriques. La première porte sur les effets du contexte de ...

  5. Mapping Cultural Frame Shifting in Interaction Design with Blending Theory

    DEFF Research Database (Denmark)

    Markussen, Thomas; Krogh, Peter Gall

    2008-01-01

    the network model of mental spaces from Fauconnier & Turner's blending theory onto video material and interviews from initial qualitative use studies of a design case. In so doing we explore and argue for how meaning formation and embodied cognition coalesce in cultural frame shifting and provide a tool......In this paper, we introduce Gilles Fauconnier & Mark Turner's blending theory as a new conceptual framework for explaining ‘cultural frame shifting' in interaction design. Cultural frame shifting is when people, through their explorative use of technology, are required imaginatively to reorganize...

  6. Erythropoiesis-stimulating agents for the treatment of chemotherapy-induced anemia: comparisons from real-world clinical experience [Corrigendum

    Directory of Open Access Journals (Sweden)

    Rodriguez Garzotto A

    2014-07-01

    Full Text Available Rodriguez Garzotto A, Heine O, Turner M, et al. J Blood Med. 2014;5:43–48.The author list should have been:Analia Rodriguez Garzotto1Susana Cortijo Casacajares1Cristina Pernaut1Gustavo Javier Ruiz Ares1Irene Otero Blas1Oliver Heine2Matthew Turner3Francisco Rebollo Laserna4Hernan Cortes Funes1Andreas Lorenz51Hospital Universitario 12 de Octubre, Ctra Andalucía, Madrid, Spain; 2Zentralklinikum Suhl, Suhl, 3Sandoz International GmbH, Holzkirchen, Germany; 4Sandoz Farmaceutica SA, Madrid, Spain; 5Frauenarztpraxis, Hildburghausen, GermanyRead the original article

  7. Geochemistry of the suspended sediment in the estuaries of the Mandovi and Zuari rivers, central west coast of India

    Digital Repository Service at National Institute of Oceanography (India)

    Kessarkar, P.M.; Shynu, R.; Rao, V.P.; Chong, F.; Narvekar, T.; Zhang, J.

    . 1982; Figueres et al. 1985; Turner et al. 1991 and 1994; Turner and Millward 1994; Zwolsman 1994; Negrel 1997; Zwolsman and van Eck 1999). The physico-chemical changes at the mixing zone of river water and seawater lead to a variety of reactions... material being transported by the river is modified before reaching the coastal seas (Yaun- Hui et al. 1984; Morris et al. 1987; Bewers and Yeats 1989). Resuspension of bed sediments and diffusion of metals from sediments to the overlying water column...

  8. MICROMORFOLOGÍA Y HISTOQUÍMICA DE LOS LATICÍFEROS DE ÓRGANOS VEGETATIVOS DE ESPECIES DE ASCLEPIADOIDEAE (APOCYNACEAE

    Directory of Open Access Journals (Sweden)

    Diego DEMARCO

    2015-01-01

    Full Text Available La micromorfología y las principales clases de componentes de las paredes de los laticíferos y del látex de Asclepias curassavica , Fischeria stellata , Gonioanthela axillaris , Matelea denticulata y Oxypetalum banksii , fueron analizadas y comparadas con las de especies de Apocynaceae de Cerrado. Los laticíferos de las especies estudiadas de diferentes tipos de bosques presentan características semejantes. Las paredes son primarias, altamente hidratadas, pecto-celulósicas y fuertemente adheridas a las paredes de las células adyacentes. El látex es blanco lechoso, constituido por polisacáridos, incluyendo mucílago, proteínas, lípidos, incluyendo ácidos grasos, compuestos fenólicos e alcaloides. Fischeria y Gonioanthela difieren de las demás especies por producir lípidos neutros. El látex de las especies investigadas está asociado a la protección de la planta contra herbivoría, pudiendo ser tóxico e inhibir la proliferación de microorganismos, además de coagular, sellando heridas de las plantas y funcionando como barrera física. Estas propiedades del látex proporcionan una mayor ventaja adaptativa a estas plantas en relación a las no latescentes.

  9. Shark predation on cephalopods in the Mexican and Ecuadorian Pacific Ocean

    Science.gov (United States)

    Galván-Magaña, Felipe; Polo-Silva, Carlos; Berenice Hernández-Aguilar, Sandra; Sandoval-Londoño, Alejandro; Ruth Ochoa-Díaz, Maria; Aguilar-Castro, Nallely; Castañeda-Suárez, David; Cabrera Chavez-Costa, Alejandra; Baigorrí-Santacruz, Álvaro; Eden Torres-Rojas, Yassir; Andrés Abitia-Cárdenas, Leonardo

    2013-10-01

    Pelagic predators such as sharks have been shown to be effective cephalopod samplers, because they have high consumption rates and swimming speeds. The stomach contents of these predators allow us to determine the distribution and abundance of cephalopods, considering the scarcity of biological information and the difficulty of catching squids and octopi using traditional methods. The silky shark (Carcharhinus falciformis), blue shark (Prionace glauca), scalloped hammerhead (Sphyrna lewini), smooth hammerhead (Sphyrna zygaena), pelagic thresher shark (Alopias pelagicus), and bigeye thresher shark (Alopias superciliosus) were caught off both coasts of Baja California Sur, Mexico, and in the Ecuadorian Pacific Ocean. Cephalopod sizes (mantle lengths, ML) were calculated based on the beak measurements to determine the size of cephalopods consumed by the sharks. We identified 21 cephalopod species based on beak items found in the shark stomachs. The most abundant cephalopods consumed by sharks in both areas were Dosidicus gigas, Ancistrocheirus lesueurii, Onychoteuthis banksii, Sthenoteuthis ovalaniensis, Argonauta spp., Abraliopsis affinis, and Mastigoteuthis dentata. The cephalopod's habitat provides information about the depth at which these sharks capture their prey. The blue shark feeds on cephalopods in epipelagic, mesopelagic, and bathypelagic waters; the silky shark feeds on cephalopods in epipelagic waters; and the scalloped hammerhead shark preys on cephalopods in neritic (bottom) and oceanic waters (epipelagic and mesopelagic). The pelagic thresher shark consumed epipelagic and neritic species; whereas the bigeye thresher shark feeds mainly on epipelagic and mesopelagic squids in Ecuadorian waters. The smooth hammerhead preys on epipelagic and mesopelagic squids off Mexico and Ecuador.

  10. Identity-Related Influences on the Success of Minority Workers in Primarily Nonminority Organizations.

    Science.gov (United States)

    James, Keith; Khoo, Gillian

    1991-01-01

    Reviews literature at the micro- (individual, interpersonal, and small group) and macro- (organizational, societal, and cultural) levels relating to the experiences and outcomes of minorities in work settings populated primarily by members of the majority. Uses Tajfel and Turner's Social Identity Theory as an organizational and integrative…

  11. Phenotypic correlations between wool traits of a Dohne Merino flock

    African Journals Online (AJOL)

    'iTo rvhom all corresoondence should be addressed. Received l1 Januan' 1985 ... fleece mass was corrected to one age-group as described by. Turner & Young (1969). As a result of incomplete data no correction factors could be calculated for the other wool traits. Bodymass was corrected to the mass of 2-year-old ewes.

  12. The 1994 Arctic Ocean Section. The First Major Scientific Crossing of the Arctic Ocean,

    Science.gov (United States)

    1996-09-01

    Officer William Turner Jr Electrical Officer William Falconer Second Officer Stephen Baxter Senior Engineer Nigel Hawksworth Third Officer Thomas Lafford...Jacqueline Bourdon Helicopter Engineer Percy Gammon Steward Leo Higgins Nurse Cylethia Lee Steward Ralph Bowley Steward Mark Lewis Steward Robert Schoots

  13. DIE GEBRUIK VAN SELEKSIE.INDEKSE BY MERINOSKAPE

    African Journals Online (AJOL)

    van oorweldigende belang is met kleur in. 'n onderge- skikte rol en die invloed van die ander eienskappe negeer- baar. Soortgelyke resultate is verkry deur Mullaney en. Sanderson ( 1970). Turner en Young ( 1969) gee die resul- tate van toetse met die verwerking van wol. Ook in hierdie geval'was veselfynheid, gemeet as ...

  14. Critical Studies in Teaching and Learning: Submissions

    African Journals Online (AJOL)

    Submissions must be original research, and must be between 5000 and 8000 words excluding references and endnotes. STYLE GUIDE ... The journal uses U.K. punctuation and spelling, following The Oxford English Dictionary (OED). Foreign words .... In Jones, C., Turner, J. & Street, B.V. Students Writing in the University.

  15. Plasma exchange in Goodpasture syndrome associated with ...

    African Journals Online (AJOL)

    Turner's syndrome was determined through blood karyotype analysis, and GPS was diagnosed because the patient was negative for antinuclear antibodies and antineutrophil cytoplasmic antibodies (ANCA), but positive for anti-glomerular basement membrane (anti-GBM) antibodies (200 RU/ml). PE was carried out in ...

  16. Valuing Wildlands

    Science.gov (United States)

    R.A. Efroymson; H.I. Jager; W.W. Hargrove

    2010-01-01

    One of the central problems of land and water management is "the way in which scarce resources are allocated among alternative uses and users. The question is, of course, fundamental to economic models and modes of thought in ecology"(Rapport and Turner 1977). Many questions that are at the heart of environmental scape ecology and EcoRAs (the primary topics...

  17. Primary Ovarian Insufficiency

    Science.gov (United States)

    ... like symptoms, including: Night sweats Vaginal dryness Irritability, depression, or anxiety Trouble sleeping Trouble with concentration or memory What causes POI? In most cases the cause of POI is unknown. Women with certain genetic disorders, such as Turner syndrome and fragile X ...

  18. Neuralgic amyotrophy

    NARCIS (Netherlands)

    Alfen, Nens van

    2006-01-01

    Neuralgic amyotrophy (a.k.a. Parsonage - Turner syndrome) is a very painful and debilitating disorder of the peripheral nerves of the shoulder and arm. Although known for over a century, it is underrecognized in daily practice. In this thesis the signs, symptoms and complications of the different

  19. The Warfighter’s Stress Response: Telemetric and Noninvasive Assessment

    Science.gov (United States)

    2002-09-01

    Medicine, the Nathan Smith Club, Yale University School of Medicine) 1999. Forensics Expert Witness, International Tribunal for War Crimes committed in...J., Turner, B., & Simon, M.A. (1999). Research methods in health psychology. In M.A. Simon (Ed.), Manual de psicologia de la salud: Fundamentos

  20. Domfeh et al

    African Journals Online (AJOL)

    PUBLICATIONS1

    Engineering IJCEE-IJENS, 12(02):17-23. Suphunvorranop, T. (1985). A guide to SCS runoff procedures. Technical Publication No. 85-5, Project Number 15/20 200 03. Turner, B. F., Gardner, L. R. and Sharp, W. E.. (1996). The hydrology of Lake Bosumtwi, a climate-sensitive lake in Ghana, West Africa. Journal of Hydrology ...

  1. X-exome sequencing identifies a HDAC8 variant in a large pedigree with X-linked intellectual disability, truncal obesity, gynaecomastia, hypogonadism and unusual face

    NARCIS (Netherlands)

    Harakalova, M.; van den Boogaard, M.J.; Sinke, R.; van Lieshout, S.; van Tuil, M.C.; Duran, K.; Renkens, I.; Terhal, P.A.; de Kovel, C.; Nijman, I.J.; van Haelst, M.; Knoers, N.V.; van Haaften, G.; Kloosterman, W.; Hennekam, R.C.; Cuppen, E.; Ploos van Amstel, H.K.

    2012-01-01

    BACKGROUND: We present a large Dutch family with seven males affected by a novel syndrome of X-linked intellectual disability, hypogonadism, gynaecomastia, truncal obesity, short stature and recognisable craniofacial manifestations resembling but not identical to Wilson-Turner syndrome. Seven female

  2. In vitro Synergy and Time-kill Assessment of Interaction between ...

    African Journals Online (AJOL)

    Levine A, Turner D. Combined azithromycin and metronidazole therapy is effective in inducing remission in pediatric Crohn's disease. J Crohn's. Colitis 2011; 5(3): 222-226. 9. Richard S, Lynn SM, Avery CG. Antimicrobial susceptibility testing protocols. CRC Press, Taylor and Francis Group; New York, 2007. 10. EUCAST ...

  3. The Effects of Live Music as the Discriminative Stimulus and Reinforcer on the Skill Acquisition of Learners with Neurodevelopmental Disorders

    Science.gov (United States)

    Harms, Melanie D.

    2013-01-01

    Individuals with neurodevelopmental disorders are challenged with memory and language deficits that impact their skills acquisition (Martin, Klusek, Estigarriba, & Roberts, 2009; Turner & Alborz, 2003). The value of music when applied as an antecedent and a reinforcer has long been established to address such memory and language deficits…

  4. Kas meediatsirkus? / Katrin Kivimaa

    Index Scriptorium Estoniae

    Kivimaa, Katrin, 1969-

    2006-01-01

    Turner Prize'i 2006. a. kunstipreemia näitusest Londonis Tate-Britainis. Nominente oli neli: Tomma Abts, Mark Titchner, Phil Collins ja Rebecca Warren. Preemia pälvis saksa-inglise maalikunstnik Tomma Abts. Pikemalt Phil Collinsi videost "Reaalse naasmine"

  5. to view fulltext PDF

    Indian Academy of Sciences (India)

    2015-04-01

    Apr 1, 2015 ... (a) Batten S R, Neville S M and Turner D R. 2009 In Coordination Polymers: Design, Analysis and. Application (RSC Publishing: Cambridge UK); (b). Robson R 2008 Dalton Trans. 5113; (c) Themed issue. 'Coordination polymers: structure and function' 2010. Biradha K (Ed.) New J. Chem. 34 2353–2681 ...

  6. Disease: H00480 [KEGG MEDICUS

    Lifescience Database Archive (English)

    Full Text Available Puusepp H, Raymond FL, Schwartz CE, Stevenson RE, Turner G, Field M, Walikonis RS, Harvey RJ, Hackett A, Fu...oubridge C, Tarpey PS, Abidi F, Ramsden SL, Rujirabanjerd S, Murphy JA, Boyle J, Shaw M, Gardner A, Proos A,

  7. 76 FR 2947 - Notice of Final Federal Agency Actions on Proposed Highway in Minnesota

    Science.gov (United States)

    2011-01-18

    .... Derrell Turner, Division Administrator, Federal Highway Administration, Saint Paul, Minnesota. BILLING... Jackson Street, Suite 500, Saint Paul, MN 55101, Telephone (651) 291-6100, e-mail: [email protected] Federal Highway Administration Notice of Final Federal Agency Actions on Proposed Highway in Minnesota...

  8. Antologi om Visuelle Felt-& Analyse Metoder

    DEFF Research Database (Denmark)

    Lundberg, Pia

    andet baseret på det poetiske princip, af Edgar Allan Poe, som blev udgivet posthumt i 1850. Derudover anvendes antropologerne Victor Turner & Edward Bruners teoretiske arbejder om forskellige kulturæstetiske fænomener og udtryk (fx Bruner 1986). Sidst men ikke mindst anvendes de kulturvidenskabelige...

  9. PETROLOGY AND GEOCHEMISTRY OF CALC-SILICATE SCHISTS ...

    African Journals Online (AJOL)

    DR OKONKOWO

    2012-02-29

    Feb 29, 2012 ... Calc-silicate diffusion zones between marble and pelitic schist. Journal of. Petrology, 16, 314-346. Turner, D. C., 1983. Upper Proterozoic Schist Belts in the Nigerian sector of the Pan-African province of West Africa. Precambrian Research, 21, 55-. 79. Van de Kamp, P. C., 1968. Geochemistry and origin of.

  10. Analysis of Hydrodynamic Interaction Between HMCS FREDERICTON and USNS KANAWHA

    Science.gov (United States)

    2012-09-01

    Andrewartha , T., Thomas, G., Turner, T., and Lin, F. (2007). Replenishment at Sea: Motions of Ships Operating Side by Side in Head Seas. International...dissemination of the document, other than those imposed by security classification) (X) Unlimited distribution ( ) Defence departments and defence contractors...further distribution only as approved ( ) Defence departments and Canadian defence contractors; further distribution only as approved ( ) Government

  11. Frequency and pattern of cytogenetic alterations in primary ...

    African Journals Online (AJOL)

    Tahir M. Malla

    2015-08-10

    Aug 10, 2015 ... Representative karyotype (46,XO) of a primary amenorrhea female with Turner's syndrome. Figure 2. Representative karyotype (46,XX,i(Xq)) of a primary amenorrhea female with isochromosome Xq. Frequency and pattern of cytogenetic alterations in primary amenorrhea cases of Kashmir, North India. 27 ...

  12. The Gradient Paradigm: A conceptual and analytical framework for landscape ecology [Chapter 5

    Science.gov (United States)

    Samuel A. Cushman; Kevin Gutzweiler; Jeffrey S. Evans; Kevin McGarigal

    2010-01-01

    Landscape ecology deals fundamentally with how, when, and why patterns of environmental factors influence the distribution of organisms and ecological processes, and reciprocally, how the actions of organisms and ecological processes influence ecological patterns (Urban et al. 1991; Turner 1989). The landscape ecologist's goal is to determine where and when...

  13. Laboratory scale production of the human recombinant iduronate 2 ...

    African Journals Online (AJOL)

    STORAGESEVER

    2009-05-04

    May 4, 2009 ... with glycine 1.7 mM). The fluorescence was determined in a fluorometer Turner 450, with wave lengths of excitation and emission of 360 and 415 nm, respectively. The control was leukocytes or human plasma (Voznyi et al., 2001). Enzyme activity was expressed as nmol of substrate converted h-1 mg-1 of ...

  14. Untitled

    African Journals Online (AJOL)

    previous growth of the wood species in the trials. This enables careful thought— out plan of action of how the experiment may be carried out. Such an approach .... an apprwliate -0 1. tone: QISBIIS whizhcenbeeaslz 'Iihfgh. References. Begg, J. E., and Turner, N. C (1976) Crop. Water Deficits. Adv. Agron., 28: 161-217.

  15. Pathogenetic Basis of Aortopathy and Aortic Valve Disease

    Science.gov (United States)

    2018-02-19

    Aortopathies; Thoracic Aortic Aneurysm; Aortic Valve Disease; Thoracic Aortic Disease; Thoracic Aortic Dissection; Thoracic Aortic Rupture; Ascending Aortic Disease; Descending Aortic Disease; Ascending Aortic Aneurysm; Descending Aortic Aneurysm; Marfan Syndrome; Loeys-Dietz Syndrome; Ehlers-Danlos Syndrome; Shprintzen-Goldberg Syndrome; Turner Syndrome; PHACE Syndrome; Autosomal Recessive Cutis Laxa; Congenital Contractural Arachnodactyly; Arterial Tortuosity Syndrome

  16. Global Proliferation-Dynamics, Acquisition Strategies, and Responses. Volume 1. Overview

    Science.gov (United States)

    1994-09-01

    RADM MARC PELAEZ SAF/AQ ATTN: LT GEN RICHARD E HAWLEY DEPART OF THE NAVY ATTN: COL CRAIG TURNER SECRETARY OF THE AIR FORCE ATTN: DR SHELIA E WIDNALL...PAUL BERNSTEIN ATTN: DR A NARATH ATTN: RALPH HALLENBECK ATTN: SOEREN KERN US DEPARTMENT OF ENERGY ATTN: HONORABLE HAZEL R O’LEARY SPARTA INC ATTN: C

  17. Pathophysiology of Increased Fetal Nuchal Translucency Thickness

    Directory of Open Access Journals (Sweden)

    Chih-Ping Chen

    2010-06-01

    Full Text Available Increased fetal nuchal translucency thickness is associated with trisomy 13, trisomy 18, trisomy 21, Turner syndrome, other sex chromosome abnormalities, as well as many fetal anomalies and genetic syndromes. This article provides a comprehensive review of the cardinal proposed pathophysiology including altered composition of the extracellular matrix, abnormalities of the heart and great arteries, and disturbed or delayed lymphatic development.

  18. Radiation-Induced Germ Cell Mutations-Their Detection and Modification.

    Science.gov (United States)

    1987-06-30

    is probably the autosomal aneuploidy with the longest life expectancy. Individuals with trisomy 18 (Turner’s Syndrome), trisomy 13 (Pateau’s...induction in male germ cells by 95 keV/ mm argon nuclei ..................................................................................... 29 2 Dominant...the zygote before or soon after implantation. Boue et. al ( 13 ) estimate that 66% of all early abortuses have chromosomal anomalies, and the

  19. Experiences of Earned Success: Community College Students' Shifts in College Confidence

    Science.gov (United States)

    Bickerstaff, Susan; Barragan, Melissa; Rucks-Ahidiana, Zawadi

    2017-01-01

    Confidence and related constructs such as self-efficacy have been previously identified as important to college student persistence and performance (e.g., Cox, 2009; Wood & Turner, 2011), but existing research gives little indication of how confidence is shaped by students' day-to-day interactions in class and on campus. Using data from nearly…

  20. Martin Creed: "Tahan luua keskkonna, kus on hea olla" / intervjueerinud Maria Arusoo

    Index Scriptorium Estoniae

    Creed, Martin, 1968-

    2011-01-01

    Tallinna Kunstihoones 29. sept.-l publikuga kohtunud inglise kunstnik, muusik ja teoreetik Martin Creed endast, oma loomingust, loomeprotsessist, oma Turner Prize'i pälvinud installatsioonist "Work No 227. Lights going on and off", mis oli väljas näitusel "Continuum_Kunst kui taju. Ruum kui protsess" jm.

  1. Profile of disorders of sexual differentiation in the Northeast region of ...

    African Journals Online (AJOL)

    Disorders of sex chromosome (Klinefelter syndrome and Turner syndrome) were the commonest, followed by mullerian dysgenesis. The commonest age of presentation was adolescence (>15–18 years)(36.56%), followed by patients aged 18 years or more (24.88%). In our study, 32.26% presented with primary female ...

  2. Profile of genetic disorders prevalent in northeast region of Cairo ...

    African Journals Online (AJOL)

    Rabah M. Shawky

    2012-02-04

    Feb 4, 2012 ... Down syndrome. 2523. 74.71. With maternal age >30 years. 1432. 42.40. With maternal age <30 years. 1091. 32.30. Other trisomies. 78. 2.30. Chromosome deletions. 143. 4.23. Sex chromosome abnormalities. 632. 18.72. Turner syndrome. 254. 7.52. Klinefelter syndrome. 130. 3.85. Fragile X syndrome.

  3. Meaning-seeking in the illusory correlation paradigm : The active role of participants in the categorization process

    NARCIS (Netherlands)

    Berndsen, M; McGarty, C; van der Pligt, J; Spears, R

    The present research examines the role of categorical perception (McGarty, Haslam, Turner, & Oakes, 1993) in the illusory correlation paradigm. This approach assumes that the search for meaningful differences between two stimulus groups can lead to the illusory correlation effect. This explanation

  4. Similar cellular responses after treatment with either praziquantel or ...

    African Journals Online (AJOL)

    cytokines which mark each subset are IL-4 and IFN-γ and these have a ... Midzi1 and Patricia D. Ndhlovu3. 1 Department of ..... Work on vaccine candidates against ... Mutapi F, Ndhlovu PD, Hagan P, Spicer JT, Mduluza T, Turner. CMR ...

  5. Download this PDF file

    African Journals Online (AJOL)

    ichthyofauna of Clarias species, very little or no research work has been done in the numerous ..... and a low yield during high water mark. Similar results ... Turner (1970) also observed that the catch rate was inversely related to water level with a ... freshwater habitats, Ph.D. Thesis, Rivers State University of. Science and ...

  6. WEST AFRICAN JOURNAL OF MEDICINE

    African Journals Online (AJOL)

    user1

    Lymphadénite Tuberculeuse: Peau Réaction d'hypersensibilité Retardée de Type et les Réponses ... increasing IFN-γ levels and decreasing IL-10 levels mark ..... In this work we demonstrated that .... Turner J, Gonzalez-Juarrero M, Ellis.

  7. On Defining "Imaginary" Beings and Attributes: How do ...

    African Journals Online (AJOL)

    R.B. Ruthven

    land and Quinn 1987, Lakoff 1987, Lakoff and Turner 1989, Palmer 1996, Shore. 1996 and ..... Again, the issue of truth is relativized to some reference point and truth mark- ers are used to .... tury, the Dragon is recorded in Conrad Gesner's Historia Animalium, a work of a scientific .... Holland, D. and N. Quinn (Eds.). 1987.

  8. The Mystery of Historical Channel Shoaling at Houston-Galveston Navigation Channel, TX

    Science.gov (United States)

    2011-05-01

    to the east in October 2002 ( HVJ Associates, 2003) changed flow from the San Jacinto River, altering shoaling patterns and magnitudes. 6. Trawling...www.hurricanecity.com/city/galveston.htm. 573 HVJ Associates, Inc. (2003). “Evaluation of Atkinson and Bolivar exhibits.” Turner Collie & Braden, Inc., and

  9. 61 | Page

    African Journals Online (AJOL)

    Fr. Ikenga

    2016-12-10

    Dec 10, 2016 ... this in Bishak v. National Productivity Centre & Anor7 when in determining the nature of probationary employment it held that 'an officer on probation ...... Ezekiel Amakiri & Ors. (1976) 2 S.C. 1 at page 11 – 12, Casir v London North Western Railway Co. (1975). LR 10 CP. 307; Pascoe V. Turner (1979) 2 All ...

  10. Plaadid / Ants Tõnisson

    Index Scriptorium Estoniae

    Tõnisson, Ants

    2004-01-01

    Uutest heliplaatidest Neil Young "Greatest Hits", The Jacksons "The Very Best Of", Seal "Best 1991-2004", Tina Turner "All The Best", "Bridget Jones", Gotan Project "Inspiracio", Xzibit "Weapons Of Mass", Annie "Anniemal", Terry Callier "Lookin' Out", Lamb Of God "Ashes Of The Wake", Robbie Williams "Greatest Hits", "Jazz In The House", "Earth"

  11. Measuring Acquisition Workforce Quality Through Dynamic Knowledge and Performance: An Exploratory Investigation to Interrelate Acquisition Knowledge With Process Maturity

    Science.gov (United States)

    2014-04-30

    funding and research will facilitate and drive. References Ahern, D. M., Clouse, A., & Turner, R. (2001). CMMI , distilled. Boston, MA: Addison-Wesley...management on the execution of simplified acquisition procedures (Master’s thesis ). Monterey, CA: Naval Postgraduate School. Benbasat, I., Goldstein, D

  12. Contract Management Process Maturity: Empirical Analysis of Organizational Assessments

    Science.gov (United States)

    2009-08-27

    qb=p`elli= = List of References Ahern, D.M., Clouse, A., & Turner, R. (2001). CMMI , distilled. Boston: Addison- Wesley. Army Aviation and Missile...organizational culture at naval air systems command (Master’s Thesis ). Monterey, CA: Naval Postgraduate School. Kraljic, P. (1983, September-October

  13. New perspective on gas-well liquid loading and unloading

    NARCIS (Netherlands)

    Veeken, C.A.M.; Belfroid, S.P.C.

    2010-01-01

    This paper discusses the multiphase flow mechanism responsible for gas-well liquid loading. It shows that the conventional idea of droplet flow reversal (Turner et al. (1969)) does not capture reality and that actual observations are better described by film flow reversal. This paper subsequently

  14. Liquid loading experiments with tube wall modifications

    NARCIS (Netherlands)

    Belfroid, S.P.C.; Schiferli, W.; Veltin, J.; Veeken, K.

    2011-01-01

    This paper discusses the multiphase flow mechanism responsible for gas-well liquid loading. It demonstrates that the conventional idea of droplet flow reversal (Turner et al. (1)) does not capture reality and that actual observations are better described by film flow reversal phenomenon. The

  15. Patchwork with an Environmental Twist!

    Science.gov (United States)

    Childress, Rita

    2010-01-01

    One of the author's favorite things about going home is looking at her parents' new quilts. Over the years, each room of their home has become filled with beautiful, original, patchwork quilts, each of which has a history. Recently the author encountered a new artist online, Vadis Turner, whose work is in the style of the familiar tumbling block…

  16. Responses of Forest Ecosystems to Changing Sulfur Inputs

    Science.gov (United States)

    Dale W. Johnson; Myron J. Mitchell

    1998-01-01

    There was little information on sulfur (S) cycling in forests compared with that of other nutrients (especially N) until the past two decades. Interest in S nutrition and cycling in forests was heightened with the discovery of deficiencies in some unpolluted regions (Kelly and Lambert, 1972; Humphreys et al., 1975; Turner et al., 1977, 1980) and excesses associated...

  17. extramarital affair as correlate of reproductive health and home

    African Journals Online (AJOL)

    Mugumbate

    Turner (2013), there is reluctance in admitting to infidelity. Glass (2012) highlighted some assumptions and facts about extramarital affairs as follows: -. Extramarital affair happens in an unhappy or unloving marriage. It is also believed that it can also happen in happy marriages and that marital happiness does not stop an ...

  18. Congenital malformations prevalent among Egyptian children and ...

    African Journals Online (AJOL)

    Rabah M. Shawky

    0.9. Q90–Q99 Chromosomal abnormalities, not elsewhere classified. Down syndrome. 2523. 74.49. Chromosomal deletions. 143. 4.22. Other trisomies. 78. 2.30. Others autosomal syndromes. 35. 1.03. Fragile X syndrome. 248. 7.32. Turner. 204. 6.02. Klinefelter syndrome. 130. 3.84. Others sex chromosome syndromes. 26.

  19. The child who is not doing well at school

    African Journals Online (AJOL)

    2007-04-11

    Apr 11, 2007 ... syndrome, Turner's syndrome, Williams syndrome, fragile X and velocardiofacial syndromes (22q deletion). A screen for allergic conditions and upper airways obstruction can reveal treatable problems, including adenoidal hypertrophy and serous otitis media. Vision can be tested using the Snellen chart.

  20. Going Green: Eco-Friendly Schools

    Science.gov (United States)

    Whelan, Debra Lau

    2007-01-01

    A growing number of studies show that a school's physical condition--especially its lighting and indoor air quality--directly affect student performance. A 2005 Turner Construction survey of green buildings found that 70 percent of districts with sustainable schools reported improved student performance. It also makes perfect sense that…