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Turners syndrome

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https://www.readbyqxmd.com/read/27926952/growth-hormone-treatment-increases-plasma-irisin-concentration-in-patients-with-turner-syndrome
#1
B Wikiera, K Zawadzka, Ł Łaczmański, N Słoka, M Bolanowski, A Basiak, A Noczyńska, J Daroszewski
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...
December 7, 2016: Hormone and Metabolic Research, Hormon- und Stoffwechselforschung, Hormones et Métabolisme
https://www.readbyqxmd.com/read/27920363/detection-of-imprinting-effects-for-qualitative-traits-on-x-chromosome-based-on-nuclear-families
#2
Ji-Yuan Zhou, Xiao-Ping You, Ran Yang, Wing Kam Fung
Methods for detecting imprinting effects have been developed primarily for autosomal markers. However, no method is available in the literature to test for imprinting effects on X chromosome. Therefore, it is necessary to suggest methods for detecting such imprinting effects. In this article, the parental-asymmetry test on X chromosome (XPAT) is first developed to test for imprinting for qualitative traits in the presence of association, based on family trios each with both parents and their affected daughter...
December 5, 2016: Statistical Methods in Medical Research
https://www.readbyqxmd.com/read/27916781/gradually-increasing-ethinyl-estradiol-for-turner-syndrome-may-produce-good-final-height-but-not-ideal-bmd
#3
Yukihiro Hasegawa, Daisuke Ariyasu, Masako Izawa, Junko Igaki-Miyamoto, Mami Fukuma, Megumi Hatano, Hiroko Yagi, Masahiro Goto
Estrogen replacement therapy in Turner syndrome should theoretically mimic the physiology of healthy girls. The objective of this study was to describe final height and bone mineral density (BMD) in a group of 17 Turner syndrome patients (group E) who started their ethinyl estradiol therapy with an ultra-low dosage (1-5 ng/kg/day) from 9.8˜13.7 years. The subjects in group E had been treated with GH 0.35 mg/kg/week since the average age of 7.4 years. The 30 subjects in group L, one of the historical groups, were given comparable doses of GH, and conjugated estrogen 0...
December 2, 2016: Endocrine Journal
https://www.readbyqxmd.com/read/27913926/maxillary-length-in-euploid-and-aneuploid-fetuses
#4
Markus Hoopmann, Jiri Sonek, Dominik Goldschmid, Philipp Wagner, Harald Abele, Karl Oliver Kagan
PURPOSE: To examine the maxillary length of euploid and aneuploid fetuses in the second and third trimester. METHODS: Retrospective study utilizing stored 2D images of second and third trimester fetal profiles obtained at the University of Tuebingen, Germany. The length of the maxilla was measured as a straight line between the anterior ventral and posterior ventral edges of the maxilla. RESULTS: The study population consisted of 347 euploid fetuses and 122, 36, 5, 8, and 4 fetuses with trisomy 21, 18, and 13, Turner syndrome, and triploidy...
December 2, 2016: Archives of Gynecology and Obstetrics
https://www.readbyqxmd.com/read/27912889/hormone-replacement-therapy-in-young-women-with-primary-ovarian-insufficiency-and-early-menopause
#5
REVIEW
Shannon D Sullivan, Philip M Sarrel, Lawrence M Nelson
Primary ovarian insufficiency (POI) is a rare but important cause of ovarian hormone deficiency and infertility in women. In addition to causing infertility, POI is associated with multiple health risks, including bothersome menopausal symptoms, decreased bone density and increased risk of fractures, early progression of cardiovascular disease, psychologic impact that may include depression, anxiety, and decreased perceived psychosocial support, potential early decline in cognition, and dry eye syndrome. Appropriate hormone replacement therapy (HRT) to replace premenopausal levels of ovarian sex steroids is paramount to increasing quality of life for women with POI and ameliorating associated health risks...
December 2016: Fertility and Sterility
https://www.readbyqxmd.com/read/27911611/the-influence-of-gh-treatment-on-glucose-homeostasis-in-girls-with-turner-syndrome-a-7-years-study
#6
Federico Baronio, Laura Mazzanti, Ylenia Girtler, Federica Tamburrino, Fiorenzo Lupi, Silvia Longhi, Antonio Fanolla, Giorgio Radetti
CONTEXT: Growth hormone (GH) influences glucose homeostasis mainly by negatively affecting insulin sensitivity. OBJECTIVE: to longitudinally study the insulin sensitivity (HOMA-S), insulin secretion (insulinogenic index - IGI) and capacity of beta cells to adapt to changes in insulin sensitivity (oral disposition index-ODI) in girls affected by Turner syndrome (TS) undergoing GH treatment. DESIGN: a longitudinal retrospective seven years study Setting: a tertiary pediatric endocrine unit and a University pediatric Clinic...
December 2, 2016: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/27901060/body-composition-and-bone-mineral-status-in-patients-with-turner-syndrome
#7
Kun Shi, Li Liu, Yao-Juan He, Duan Li, Lian-Xiong Yuan, Gendie E Lash, Li Li
Turner syndrome (TS) is associated with decreased bone mineral density and increased fracture rate. However, the developmental trajectory of bone density or body composition in patients with TS is still unclear. The present study tested the hypothesis that different karyotypes and/or age contributes to abnormal body composition and decreased bone mineral status parameters in patients with TS. This study included 24 girls with TS, in which 13 girls exhibited X0 karyotype and 11 had mosaicism. Quantitative ultrasound (QUS) assessed the bone mineral status of the calcaneus, including bone mineral density (BMD), amplitude-dependent speed of sound (AD-SOS), broadband ultrasound attenuation (BUA) and InBody 770 assessed body composition...
November 30, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27896428/xci-escaping-gene-kdm5c-contributes-to-ovarian-development-via-downregulating-mir-320a
#8
Yi-Xi Sun, Yi-Xin Zhang, Dan Zhang, Chen-Ming Xu, Song-Chang Chen, Jun-Yu Zhang, Ye-Chun Ruan, Feng Chen, Run-Ju Zhang, Ye-Qing Qian, Yi-Feng Liu, Lu-Yang Jin, Tian-Tian Yu, Hai-Yan Xu, Yu-Qin Luo, Xin-Mei Liu, Fei Sun, Jian-Zhong Sheng, He-Feng Huang
Mechanisms underlying female gonadal dysgenesis remain unclarified and relatively unstudied. Whether X-chromosome inactivation (XCI)-escaping genes and microRNAs (miRNAs) contribute to this condition is currently unknown. We compared 45,X Turner Syndrome women with 46,XX normal women, and investigated differentially expressed miRNAs in Turner Syndrome through plasma miRNA sequencing. We found that miR-320a was consistently upregulated not only in 45,X plasma and peripheral blood mononuclear cells (PBMCs), but also in 45,X fetal gonadal tissues...
November 28, 2016: Human Genetics
https://www.readbyqxmd.com/read/27881458/dosage-of-estradiol-bone-and-body-composition-in-turner-syndrome-a-5-year-randomized-controlled-clinical-trial
#9
Line Cleemann, Kirsten Holm, Hanne Kobbernagel, Bent Kristensen, Sven Oluf Skouby, Andreas Emil Kryger Jensen, Claus Hojbjerg Gravholt
OBJECTIVE: Reduced bone mineral density (BMD) is seen in Turner syndrome (TS) with an increased risk of fractures, and body composition is characterized by increased body fat and decreased lean body mass. To evaluate the effect of two different doses of oral 17ß-estradiol in young TS women on bone mineral density (BMD), biochemical markers of bone turnover, and body composition with the hypothesis of a positive effect of the higher dose. DESIGN: A double-blind 5-year randomized controlled clinical trial...
November 23, 2016: European Journal of Endocrinology
https://www.readbyqxmd.com/read/27879963/hypogonadism-and-non-alcoholic-fatty-liver-disease
#10
Gesthimani Mintziori, Pavlos Poulakos, Christos Tsametis, Dimitrios G Goulis
Non-alcoholic fatty liver disease (NAFLD) is more common in men than in women. Thus, it has been suggested that sex steroids do have a role in the development of NAFLD. The aim of the current paper is to illustrate the association between NAFLD and hypogonadism, by reviewing data derived from both human and animal studies. The prevalence of NAFLD is high in men with hypogonadism, including those with idiopathic hypogonadotropic hypogonadism (IHH), as well as in women in post- menopause, those under estrogen receptor antagonist treatment or women with Turner syndrome...
November 23, 2016: Minerva Endocrinologica
https://www.readbyqxmd.com/read/27869798/gluten-induced-symptoms-in-diarrhea-predominant-irritable-bowel-syndrome-are-associated-with-increased-myosin-light-chain-kinase-activity-and-claudin-15-expression
#11
Richard L Wu, Maria I Vazquez-Roque, Paula Carlson, Duane Burton, Madhusudan Grover, Michael Camilleri, Jerrold R Turner
The mechanisms underlying diarrhea-predominant irritable bowel syndrome (IBS-D) are poorly understood, but increased intestinal permeability is thought to contribute to symptoms. A recent clinical trial of gluten-free diet (GFD) demonstrated symptomatic improvement, relative to gluten-containing diet (GCD), which was associated with reduced intestinal permeability in non-celiac disease IBS-D patients. The aim of this study was to characterize intestinal epithelial tight junction composition in IBS-D before and after dietary gluten challenge...
November 21, 2016: Laboratory Investigation; a Journal of Technical Methods and Pathology
https://www.readbyqxmd.com/read/27866202/the-evolution-of-thyroid-function-after-presenting-with-hashimoto-thyroiditis-is-different-between-initially-euthyroid-girls-with-and-those-without-turner-syndrome
#12
Malgorzata Wasniewska, Mariacarolina Salerno, Andrea Corrias, Laura Mazzanti, Patrizia Matarazzo, Domenico Corica, Tommaso Aversa, Maria Francesca Messina, Filippo De Luca, Mariella Valenzise
AIM: 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. DESIGN: 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. RESULTS: 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...
November 19, 2016: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/27864992/the-mri-bullseye-sign-an-indicator-of-peripheral-nerve-constriction-in-parsonage-turner-syndrome
#13
Darryl B Sneag, Eliana B Saltzman, David W Meister, Joseph H Feinberg, Steve K Lee, Scott W Wolfe
INTRODUCTION: Magnetic resonance imaging's (MRI's) role in identifying hourglass constrictions (HGCs) of nerves in Parsonage-Turner syndrome (PTS) is largely unknown. METHODS: Six patients with PTS and with absent or minimal recovery underwent MRI. Surgical exploration was performed at identified pathologic sites. RESULTS: The time between symptom onset and surgery was 12.4 ± 6.9 months; the time between MRI and surgery was 1.3 ± 0...
November 16, 2016: Muscle & Nerve
https://www.readbyqxmd.com/read/27861716/high-androgen-levels-protect-against-hypothyroidism
#14
Johanna Schmidt, Eva Dahlgren, Inger Bryman, Kerstin Berntorp, Penelope Trimpou, Lars Wilhelmsen, Kerstin Landin-Wilhelmsen
Hypothyroidism is a common disorder, mainly in women but less frequently found in women with polycystic ovary syndrome (PCOS). The objective was to test the hypothesis that hyperandrogenism might protect against hypothyroidism MATERIAL AND METHODS: The data from three prospective follow-up (up to 21 years) and one register study were compared; women with PCOS (Rotterdam criteria), n=25, women with Turners syndrome, n=217, a random population sample of women, n=315, and men, n=95, (the WHO MONICA study). Findings were to be verified or rejected in all females, n=553 716, from the same region...
November 12, 2016: Acta Obstetricia et Gynecologica Scandinavica
https://www.readbyqxmd.com/read/27843801/interrupted-aortic-arch-with-isolated-persistent-left-superior-vena-cava-in-patient-with-turners-syndrome
#15
M Obadah Kattea, Osama A Smettei, Abdulrahman Kattea, Rami M Abazid
We present a case of 13-year-old female with Turner syndrome (TS), who presented with unexplained lower limbs swelling and ejection systolic murmur at the left second intercostal space. Suspicion of mild aortic coarctation was made by echocardiography. Computed tomography angiography (CTA) showed a complete interruption of the aortic arch (IAA) below the left subclavian artery with persistent left superior vena cava (PLSVC) and absent right SVC, defined as an isolated PLSVC. The patient underwent successful surgical correction after unsuccessful trial of transcatheter stent placement...
October 2016: Avicenna Journal of Medicine
https://www.readbyqxmd.com/read/27828687/selected-clinical-features-of-the-head-and-neck-in-women-with-turner-syndrome-and-the-45-x-46-xy-karyotype
#16
Agnieszka Frelich, Wacław Jeż, Tomasz Jerzy Irzyniec
INTRODUCTION: 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. MATERIAL AND METHODS: 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...
November 9, 2016: Endokrynologia Polska
https://www.readbyqxmd.com/read/27816898/epilepsy-in-ring-chromosome-20-syndrome
#17
Aglaia Vignoli, Francesca Bisulli, Francesca Darra, Massimo Mastrangelo, Carmen Barba, Lucio Giordano, Katherine Turner, Elena Zambrelli, Valentina Chiesa, Stefania Bova, Isabella Fiocchi, Angela Peron, Ilaria Naldi, Giuseppe Milito, Laura Licchetta, Paolo Tinuper, Renzo Guerrini, Bernardo Dalla Bernardina, Maria Paola Canevini
OBJECTIVE: Ring chromosome 20 syndrome is characterized by severe, drug resistant childhood onset epilepsy, often accompanied by cognitive impairment. We characterized the electro-clinical phenotype and the long-term course of epilepsy in a large series. METHODS: We reviewed the electro-clinical phenotype of 25 patients (aged 8-59 years), and assessed the relationship between epilepsy severity and clinical and/or genetic variables. We also searched for reports of patients diagnosed with r(20) syndrome in the literature, included those whose clinical information was sufficiently accurate, and compared their clinical features with the ones of our patients...
December 2016: Epilepsy Research
https://www.readbyqxmd.com/read/27814343/prevalence-of-shox-haploinsufficiency-among-short-statured-children
#18
Maja Rou Marstrand-Joergensen, Rikke Beck Jensen, Lise Aksglaede, Morten Dunoe, Anders Juul
BACKGROUND: The aim of this clinical study was to determine the prevalence of SHOX haploinsufficiency in a population of short stature patients and describe their anthropometric measurements. METHODS: 574 short statured patients were evaluated in a single center (1992-2015). SHOX copy number was detected by quantitative Polymerase Chain Reaction (qPCR) in 574 subjects, followed by multiplex ligation-dependent probe amplification (MLPA) and DNA sequencing in subjects with SHOX haploinsufficiency...
November 4, 2016: Pediatric Research
https://www.readbyqxmd.com/read/27809913/long-term-safety-and-efficacy-of-omnitrope%C3%A2-a-somatropin-biosimilar-in-children-requiring-growth-hormone-treatment-italian-interim-analysis-of-the-patro-children-study
#19
Lorenzo Iughetti, Gianluca Tornese, Maria Elisabeth Street, Flavia Napoli, Claudia Giavoli, Franco Antoniazzi, Stefano Stagi, Caterina Luongo, Sara Azzolini, Letizia Ragusa, Gianni Bona, Clara Zecchino, Tommaso Aversa, Luca Persani, Laura Guazzarotti, Emiliano Zecchi, Alberto Pietropoli, Stefano Zucchini
BACKGROUND: PATRO Children is an ongoing observational, longitudinal, non-interventional, global post-marketing surveillance study, which is investigating the long-term safety and effectiveness of Omnitrope®, a somatropin biosimilar to Genotropin®, in children with growth disturbances. The primary endpoint of PATRO Children is long-term safety and the secondary endpoint is effectiveness, which is assessed by analysing auxological data such as height (HSDS) and height velocity (HVSDS) standard deviation scores...
November 3, 2016: Italian Journal of Pediatrics
https://www.readbyqxmd.com/read/27809610/sexuality-and-quality-of-life-in-congenital-hypogonadisms
#20
María Fernanda Garrido Oyarzún, Camil Castelo-Branco
Turner syndrome and idiopathic congenital hypogonadism including Kallmann syndrome are conditions associated to a large number of widely known comorbidities that need a medical support forever. One of the characteristics shared by both conditions is the lack of sexual development that influencing the sexuality functioning and quality of life of the affected women. Few studies have been conducted to assess these topics, but they need to be considered in the treatment to all women with hypogonadism. This review on the major medical issues and psychological aspects, also focus in the present knowledge about sexual function and quality of life of women with Turner syndrome and idiopathic congenital hypogonadism, which aims to help in the comprehensive management of these patients...
November 4, 2016: Gynecological Endocrinology
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