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Turners syndrome

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https://www.readbyqxmd.com/read/28523940/delay-in-estrogen-commencement-is-associated-with-lower-bone-mineral-density-in-turner-syndrome
#1
H H Nguyen, P Wong, B J Strauss, G Jones, P R Ebeling, F Milat, A Vincent
OBJECTIVE: Turner syndrome (TS) is associated with hypogonadism, osteoporosis and fractures. We investigated the prevalence and risk factors for low bone density and fractures in a TS cohort. METHODS: We included 76 TS patients (median age 28.5 years) attending a tertiary hospital between 1998 and 2015 who underwent dual-energy X-ray absorptiometry. Spine and femoral neck (FN) areal bone mineral density (aBMD) were compared with those of a control group. To adjust for smaller bone size, bone mineral apparent density (BMAD) was calculated...
May 19, 2017: Climacteric: the Journal of the International Menopause Society
https://www.readbyqxmd.com/read/28522645/real-life-gh-dosing-patterns-in-children-with-ghd-ts-or-born-sga-a-report-from-the-nordinet%C3%A2-international-outcome-study
#2
Oliver Blankenstein, Marta Snajderova, Joanne C Blair, Effie Pournara, Birgitte Tønnes Pedersen, Isabelle Oliver Petit
OBJECTIVE: To describe real-life dosing patterns in children with growth hormone deficiency (GHD), born small for gestational age (SGA) or with Turner syndrome (TS) receiving growth hormone (GH) and enrolled in the NordiNet® International Outcome Study (IOS; NCT00960128) between 2006 and 2016. DESIGN: This non-interventional, multicentre study included paediatric patients diagnosed with GHD (isolated [IGHD] or multiple pituitary hormone deficiency [MPHD]), born SGA or with TS and treated according to everyday clinical practice from the Czech Republic (IGHD/MPHD/SGA/TS: n=425/61/316/119), France (n=1404/188/970/206), Germany (n=2603/351/1387/411) and the UK (n=259/60/87/35)...
May 18, 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/28516754/adult-height-in-patients-with-turner-syndrome-and-association-with-lifestyle-related-diseases-after-human-growth-hormone-treatment-in-japan
#3
Kunihiko Hanew, Toshiaki Tanaka
No abstract text is available yet for this article.
March 2017: Pediatric Endocrinology Reviews: PER
https://www.readbyqxmd.com/read/28516753/revision-of-the-growth-references-for-japanese-girls-with-turner-syndrome
#4
Tsuyoshi Isojima
No abstract text is available yet for this article.
March 2017: Pediatric Endocrinology Reviews: PER
https://www.readbyqxmd.com/read/28516752/growth-hormone-treatment-and-adverse-events
#5
Yoshikazu Nishi, Toshiaki Tanaka
We compiled the major adverse events included in the Annual Research Reports of the Foundation for Growth Research published in and after 2000. We conducted a review of approximately 32,000 patients treated with growth hormone (GH) who subsequently developed leukemia and who were registered with the Foundation for Growth Research (from 1975 to December 31 1997). We performed a literature review and found that GH therapy was not associated with leukemia onset in patients with no risk factors for leukemia. We also reported the onset of diabetes mellitus (DM), scoliosis, and respiratory problems in patients with Prader-Willi syndrome who were treated with GH...
March 2017: Pediatric Endocrinology Reviews: PER
https://www.readbyqxmd.com/read/28508615/a-multidisciplinary-approach-to-puberty-and-fertility-in-girls-with-turner-syndrome
#6
Johanna Viau Colindres, Krista J Childress, Marni Axelrad, Laurence B McCullough, Yunru Shao, Charles Macias, Jennifer Loveless, Sheila K Gunn, Jennifer Bercaw-Pratt, Reid Sutton, Lefkothea P Karaviti, Jennifer E Dietrich
Women with Turner Syndrome (TS) have a variety of medical needs throughout their lives; however, the peripubertal years are particularly challenging. From a medical perspective, the burden of care increases during this time due to growth optimization strategies, frequent health screenings, and puberty induction. Psychologically, girls begin to comprehend the long-term implications of the condition, including their diminished fertility potential. Unfortunately, clear guidelines for how to best approach this stage have not been established...
September 2016: Pediatric Endocrinology Reviews: PER
https://www.readbyqxmd.com/read/28506992/reduced-mad2-levels-dampen-apoptotic-response-to-non-exchange-sex-chromosomes-and-lead-to-sperm-aneuploidy
#7
Imrul Faisal, Liisa Kauppi
In meiosis, non-exchange homologous chromosomes are at risk for missegregation and should be monitored by the spindle assembly checkpoint (SAC) to avoid formation of aneuploid gametes. Sex chromosome missegregation is particularly common and can lead to sterility or to aneuploid offspring (e.g. individuals with Turner or Klinefelter syndrome). Despite major implications for health and reproduction, modifiers of meiotic SAC robustness and the subsequent apoptotic response in male mammals remain obscure. Levels of SAC proteins, e...
May 15, 2017: Development
https://www.readbyqxmd.com/read/28496331/clinical-and-genetic-characteristics-in-a-group-of-45-patients-with-turner-syndrome-monocentric-study
#8
Simona Bucerzan, Diana Miclea, Radu Popp, Camelia Alkhzouz, Cecilia Lazea, Ioan Victor Pop, Paula Grigorescu-Sido
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...
2017: Therapeutics and Clinical Risk Management
https://www.readbyqxmd.com/read/28491449/metastatic-pulmonary-carcinomas-in-cats-feline-lung-digit-syndrome-further-variations-on-a-theme
#9
Elizabeth Thrift, Chris Greenwell, Audra-Lynne Turner, Andrea M Harvey, Donna Maher, Richard Malik
CASE SERIES SUMMARY: The aim of this retrospective case series was to describe seven cases where cats with primary lung tumours were presented because of metastases to extra-pulmonary sites ('feline lung-digit syndrome'). Specifically, we wanted to emphasise less typical case descriptions where tumour emboli resulted in lesions developing in the musculature (including the muscles of the head), skin or distal aorta. RELEVANCE AND NOVEL INFORMATION: The cases are presented to increase clinical awareness of this entity in feline practice, especially when characteristic combinations of clinical signs are present...
January 2017: JFMS Open Rep
https://www.readbyqxmd.com/read/28485514/incidence-puberty-and-fertility-in-45-x-47-xxx-mosaicism-report-of-a-patient-and-a-literature-review
#10
Han Hyuk Lim, Hong Ryang Kil, Sun Hoe Koo
Turner syndrome (TS), characterized by short stature and premature ovarian failure, is caused by chromosomal aberrations with total or partial loss of one of the two X chromosomes. Spontaneous puberty, menarche, and pregnancy occur in some patients depending on the abnormality of the X. Moreover, spontaneous pregnancy is uncommon (<0.5%) for TS with 45,X monosomy. Among TS patients, 45,X/47,XXX karyotype is extremely rare. Previous reports have demonstrated that TS with 45,X/47,XXX is less severe than common TS due to higher occurrence of puberty (83%), menarche (57-67%), and fertility (14%) and lower occurrence of congenital anomalies (<5%)...
May 9, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28479808/chiari-i-malformation-associated-with-turner-syndrome
#11
Kamble Jayaprakash Harsha, Jeevan S Nair
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...
April 2017: Journal of Neurosciences in Rural Practice
https://www.readbyqxmd.com/read/28478723/unilateral-foot-swelling-in-an-adolescent-with-turner-syndrome
#12
Andrés Mallipudi, Megan Gornet, Elie Portnoy, Michael A Barone
No abstract text is available yet for this article.
May 1, 2017: Clinical Pediatrics
https://www.readbyqxmd.com/read/28465315/a-first-in-human-clinical-study-of-a-new-sp-b-and-sp-c-enriched-synthetic-surfactant-chf5633-in-preterm-babies-with-respiratory-distress-syndrome
#13
David G Sweet, Mark A Turner, Zbyněk Straňák, Richard Plavka, Paul Clarke, Ben J Stenson, Dominique Singer, Rangmar Goelz, Laura Fabbri, Guido Varoli, Annalisa Piccinno, Debora Santoro, Christian P Speer
OBJECTIVE: CHF5633 (Chiesi Farmaceutici S.p.A., Parma, Italy) is the first fully synthetic surfactant enriched by peptide analogues of two human surfactant proteins. We planned to assess safety and tolerability of CHF5633 and explore preliminary efficacy. DESIGN: Multicentre cohort study. PATIENTS: Forty infants from 27(+0) to 33(+6) weeks gestation with respiratory distress syndrome requiring fraction of inspired oxygen (FiO2) ≥0.35 were treated with a single dose of CHF5633 within 48 hours after birth...
May 2, 2017: Archives of Disease in Childhood. Fetal and Neonatal Edition
https://www.readbyqxmd.com/read/28463845/pulmonary-vein-varices-are-syndromic-features-in-turner-syndrome
#14
Mouhamad Nasser, Didier Revel, Hélène Thibault, Chahéra Khouatra, Vincent Cottin
No abstract text is available yet for this article.
May 3, 2017: Respiration; International Review of Thoracic Diseases
https://www.readbyqxmd.com/read/28461798/transcatheter-aortic-valve-implantation-in-a-patient-with-unicuspid-aortic-valve
#15
Angelo Nascimbene, Pranav Loyalka, Igor D Gregoric, Ricardo Bellera, Maan Malahfji, Marija Petrovic, Biswajit Kar
Transcatheter aortic valve replacement (TAVR) in patients with bicuspid aortic valves has been successfully performed, but there is a lack of published experience in percutaneous treatment of patients with unicuspid valves and severe aortic stenosis. We describe a case of TAVR in such a patient. A 31-year-old woman with Turner syndrome-who had undergone coarctation repair via subclavian flap at age 7 days and an aortic valvotomy at age 6 weeks-presented with severe symptomatic aortic stenosis. She was deemed inoperable because of her severe pulmonary hypertension and numerous comorbidities; consequently, a 20-mm Edwards Sapien 3 Transcatheter Heart Valve was offered for compassionate use...
April 2017: Texas Heart Institute Journal
https://www.readbyqxmd.com/read/28456931/thyroid-autoimmunity-in-girls-with-turner-syndrome
#16
Ewelina Witkowska-Sędek, Ada Borowiec, Anna Kucharska, Karolina Chacewicz, Małgorzata Rumińska, Urszula Demkow, Beata Pyrżak
Turner syndrome is associated with increased incidence of autoimmune diseases, especially those of the thyroid gland. The aim of this study was to assess the prevalence of thyroid autoimmunity among pediatric patients with Turner syndrome. The study was retrospective and included 41 girls with Turner syndrome aged 6-18 years. Free thyroxine (FT4), thyroid stimulating hormone (TSH), anti-thyroid peroxidase (TPO-Ab) antibodies, anti-thyroglobulin (TG-Ab) antibodies, and karyotype were investigated. The correlation between karyotype and incidence of thyroid autoimmunity was also examined...
April 30, 2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/28448550/priority-target-conditions-for-algorithms-for-monitoring-children-s-growth-interdisciplinary-consensus
#17
Pauline Scherdel, Rachel Reynaud, Christine Pietrement, Jean-François Salaün, Marc Bellaïche, Michel Arnould, Bertrand Chevallier, Hugues Piloquet, Emmanuel Jobez, Jacques Cheymol, Emmanuelle Bichara, Barbara Heude, Martin Chalumeau
BACKGROUND: Growth monitoring of apparently healthy children aims at early detection of serious conditions through the use of both clinical expertise and algorithms that define abnormal growth. Optimization of growth monitoring requires standardization of the definition of abnormal growth, and the selection of the priority target conditions is a prerequisite of such standardization. OBJECTIVE: To obtain a consensus about the priority target conditions for algorithms monitoring children's growth...
2017: PloS One
https://www.readbyqxmd.com/read/28439773/parsonage-turner-syndrome-due-to-autochthonous-acute-genotype-3f-hepatitis-e-virus-infection-in-a-nonimmunocompromised-55-year-old-patient
#18
A Velay, W Kack-Kack, F Abravanel, S Lhomme, P Leyendecker, L Kremer, P Chamouard, J Izopet, S Fafi-Kremer, H Barth
Hepatitis E virus (HEV) infection is an emerging autochthonous disease in industrialized countries. Extra-hepatic manifestations, in particular neurologic manifestations, have been reported in HEV infection. Only a few cases of hepatitis E-associated Parsonage-Turner syndrome have been reported, and HEV genotypes were rarely determined. Here, we report the case of a Parsonage-Turner syndrome associated with an acute autochthonous HEV infection in a 55-year-old immunocompetent patient. HEV genomic RNA was detected in serum and cerebrospinal fluid samples (CSF), and molecular phylogenetic analysis of HEV was performed...
April 24, 2017: Journal of Neurovirology
https://www.readbyqxmd.com/read/28439053/-calcium-and-bone-metabolism-across-women-s-life-stages-bone-metabolism-of-women-in-primary-amenorrhea
#19
Tsuyoshi Higuchi
For development of the bone during adolescence, the increased estrogen plays an important role especially in young women as well as GH/IGF-Ⅰ system. Although primary amenorrhea can be caused by various pathological factors, almost of cases have a dysfunction of estrogen secretory systems. For Turner syndrome, which is well-known disease with primary amenorrhea,it is generally recommended that the estrogen therapy is started at adolescence and gradually increased up to adult dose level. Recently studies about the adequate dose of estrogen and the adequate age of adult dose in Turner syndrome revealed that intervention with adult dose of estrogen is required as soon as possible for gaining better bone mineral...
2017: Clinical Calcium
https://www.readbyqxmd.com/read/28420278/audiometric-features-in-young-adults-with-turner-syndrome
#20
Åsa Bonnard, Christina Hederstierna, Rusana Bark, Malou Hultcrantz
OBJECTIVE: Hearing loss (HL) is a known problem in adults with Turner syndrome (TS). The aim of this study was to investigate audiometric features in young adults with TS and the extent of hearing aid provision. DESIGN: Patients were recruited from the Turner centre at Karolinska University Hospital. Analysis of audiograms was made in relation to hearing aid use, a Swedish normal hearing cohort and the need for hearing rehabilitation. STUDY SAMPLE: Sixty-four women with TS aged 25-38 years at the time of their audiological testing...
April 19, 2017: International Journal of Audiology
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