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"Turner Syndrome"

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https://www.readbyqxmd.com/read/28099951/complex-x-chromosomal-rearrangements-in-two-women-with-ovarian-dysfunction-implications-of-chromothripsis-chromoanasynthesis-dependent-and-independent-origins-of-complex-genomic-alterations
#1
Erina Suzuki, Hirohito Shima, Machiko Toki, Kunihiko Hanew, Keiko Matsubara, Hiroki Kurahashi, Satoshi Narumi, Tsutomu Ogata, Tsutomu Kamimaki, Maki Fukami
Our current understanding of the phenotypic consequences and the molecular basis of germline complex chromosomal rearrangements remains fragmentary. Here, we report the clinical and molecular characteristics of 2 women with germline complex X-chromosomal rearrangements. Patient 1 presented with nonsyndromic ovarian dysfunction and hyperthyroidism; patient 2 exhibited various Turner syndrome- associated symptoms including ovarian dysfunction, short stature, and autoimmune hypothyroidism. The genomic abnormalities of the patients were characterized by array-based comparative genomic hybridization, high-resolution karyotyping, microsatellite genotyping, X-inactivation analysis, and bisulfite sequencing...
January 19, 2017: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/28099131/turner-syndrome-and-pituitary-adenomas-a-case-report-and-review-of-literature
#2
Tiffany Yeh, Angela Ganan Soto, Jose Bernardo Quintos, Lisa Swartz Topor
BACKGROUND: Turner syndrome (TS) is the most common sex chromosome abnormality in females, typically associated with primary amenorrhea and premature ovarian failure due to gonadal dysgenesis. The association of TS with hypopituitarism is an uncommon finding. The objective of the study was to describe an adolescent with TS with hypergonadotropic hypogonadism and subsequent hypogonadotropic hypogonadism. CASE PRESENTATION: A 16-year-old female with primary amenorrhea was diagnosed with TS based on karyotype 45,XO...
January 18, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28097780/a-man-made-disease-fetal-neonatal-alloimmune-thrombocytopenia-due-to-incompatibility-between-oocyte-donor-and-gestational-mother
#3
Assaf Arie Barg, Aviya Dvir Ifrah, Tzipi Strauss, Michal J Simchen, Raoul Orvieto, Nurit Rosenberg, Gili Kenet
The incompatibility causing fetal and neonatal alloimmune thrombocytopenia (FNAIT) results from a fetus inheriting a paternal human platelet antigen (HPA), which is different from the maternal HPA. We present a unique case of FNAIT in a pregnancy involving an oocyte recipient mother with Turner syndrome. This is the first report of FNAIT in which the suggested mechanism involves antibodies produced by a gestational mother against the incompatible HPA of the oocyte donor.
January 18, 2017: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/28095041/oral-versus-transdermal-estrogen-in-turner-syndrome-a-systematic-review-and-meta-analysis
#4
Feras Zaiem, Fares Alahdab, Alaa Al Nofal, Mohammad Hassan Murad, Asma Javed
OBJECTIVE: To conduct a systematic review and meta-analysis comparing transdermal estrogens (TDE) versus oral estrogens (OE) in Turner syndrome (TS). METHOD: Randomized trials and observational comparative studies with a minimal follow up of 6 months for skeletal and metabolic outcomes and serum hormone changes. Outcomes were pooled with a random effects model and were reported as mean difference between OE and TDE groups and 95% confidence interval (CI). RESULT: Of 845 candidate references, 4 studies were included...
January 17, 2017: Endocrine Practice
https://www.readbyqxmd.com/read/28044362/the-electrodiagnostic-natural-history-of-parsonage-turner-syndrome
#5
Joseph H Feinberg, Elizabeth T Nguyen, Kwadwo Boachie-Adjei, Caitlin Gribbin, Steve K Lee, Aaron Daluiski, Scott W Wolfe
Introduction Recovery from Parsonage-Turner syndrome (PTS) is generally favorable, although recovery times have varied, in part because there are no universally-accepted outcome measures. This study describes the electrodiagnostic natural history of this condition based on objective electrodiagnostic testing, and proposes that complete electrodiagnostic recovery can be seen as early as 1 year. Methods Twenty-six subjects with 29 affected nerves confirmed as PTS were followed every 3 months for electrodiagnostic testing, or until full reinnervation was confirmed...
January 3, 2017: Muscle & Nerve
https://www.readbyqxmd.com/read/28032208/hormone-replacement-therapy-in-turner-syndrome-is-important-a-new-meta-analysis-points-at-many-shortcomings-in-the-available-literature
#6
EDITORIAL
Claus H Gravholt
No abstract text is available yet for this article.
December 28, 2016: Endocrine
https://www.readbyqxmd.com/read/28027064/novel-pathogenic-variant-in-the-hras-gene-with-lethal-outcome-and-a-broad-phenotypic-spectrum-among-polish-patients-with-costello-syndrome
#7
Magdalena Pelc, Elżbieta Ciara, Aleksandra Jezela-Stanek, Monika Kugaudo, Agata Cieślikowska, Dorota Jurkiewicz, Magdalena Janeczko, Krystyna Chrzanowska, Małgorzata Krajewska-Walasek, Agata Skórka
Costello syndrome (CS) is a rare congenital disorder from the group of RASopathies, characterized by a distinctive facial appearance, failure to thrive, cardiac and skin anomalies, intellectual disability, and a predisposition to neoplasia. CS is associated with germline mutations in the proto-oncogene HRAS, a small GTPase from the Ras family. In this study, a molecular and clinical analysis was carried out in eight Polish patients with the Costello phenotype. A molecular test showed two known heterozygous mutations in the first coding exon of the gene in seven patients: p...
December 23, 2016: Clinical Dysmorphology
https://www.readbyqxmd.com/read/28018463/concomitant-occurrence-of-turner-syndrome-and-growth-hormone-deficiency
#8
Jung Yu, Ha Young Shin, Chong Guk Lee, Jae Hyun Kim
Turner syndrome (TS) is a genetic disorder in phenotypic females that has characteristic physical features and presents as partial or complete absence of the second sex chromosome. Growth hormone deficiency (GHD) is a condition caused by insufficient release of growth hormone from the pituitary gland. The concomitant occurrence of TS and GHD is rare and has not yet been reported in Korea. Here we report 2 cases of TS and GHD. In case 1, GHD was initially diagnosed. Karyotyping was performed because of the presence of the typical phenotype and poor response to growth hormone therapy, which revealed 45,X/45,X+mar...
November 2016: Korean Journal of Pediatrics
https://www.readbyqxmd.com/read/28005757/correction-of-pterygium-colli-in-turner-syndrome-a-clinical-report-and-review-of-the-surgical-management
#9
Richard Ben Lou, Petros Konofaos, Robert D Wallace
The aim of surgery for pterygium colli (PC) is to correct the contour deformity, redistribute or remove the horizontal excess of skin, address the abnormal posterior hairline, avoid excessive scarring, and prevent recurrence. The purpose of this study is to review the available methods to correct the deformity and highlight a recent patient performed by the senior author. A modified bilateral Z-plasty technique was used for correcting PC on a 5-year-old African American girl diagnosed with Turner syndrome. The patient had an uneventful postoperative period and satisfactory functional and esthetic results were demonstrated at 1 year follow-up...
November 2016: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/27997249/dosage-of-sex-chromosomal-genes-in-blood-deposited-on-filter-paper-for-neonatal-screening-of-sex-chromosome-aneuploidy
#10
Luis Daniel Campos-Acevedo, Marisol Ibarra-Ramirez, José de Jesús Lugo-Trampe, Michelle de Jesús Zamudio-Osuna, Iris Torres-Muñoz, Ma Del Roble Velasco-Campos, Luz Rojas-Patlan, Irám Pablo Rodríguez-Sánchez, Laura Elia Martínez-de-Villarreal
AIMS: In this study, we examined the doses of the stature homeobox (SHOX), vesicle-associated membrane protein 7 (VAMP7), and SRY genes to establish a protocol for using peripheral blood samples deposited on filter paper for the screening of sex chromosome aneuploidy in neonates. We also measured correlations with karyotypes to assess this method as a neonatal screening strategy. MATERIALS AND METHODS: This was an observational, descriptive, comparative blind study...
December 2016: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/27976569/horseshoe-kidney-with-growth-retardation-don-t-forget-turner-syndrome
#11
Seçil Arslansoyu-Çamlar, Alper Soylu, Ayhan Abacı, Mehmet Atilla Türkmen, Ayfer Ülgenalp, Salih Kavukçu
Horseshoe kidney is the most frequent renal fusion anomaly that is usually asymptomatic and isolated malformation. However it can be seen with various syndromes and chromosomal anomalies. It was reported that 15-35% of Turner syndrome cases (TS) also display horseshoe kidney condition. TS is a chromosomal anomaly that had been characterized by delayed puberty, short body height and gonadal dysgenesis. In this report a five-year-old girl with horseshoe kidney, which has growth retardation during follow-up as only symptom of Turner syndrome...
2016: Turkish Journal of Pediatrics
https://www.readbyqxmd.com/read/27926952/growth-hormone-treatment-increases-plasma-irisin-concentration-in-patients-with-turner-syndrome
#12
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
#13
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...
January 1, 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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
Line Cleemann, Kirsten Holm, Hanne Kobbernagel, Bent Kristensen, Sven Oluf Skouby, Andreas Kryger Jensen, Claus H 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 17B-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...
February 2017: European Journal of Endocrinology
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