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"Turner Syndrome"

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https://www.readbyqxmd.com/read/28420278/audiometric-features-in-young-adults-with-turner-syndrome
#1
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
https://www.readbyqxmd.com/read/28417607/rebuttal-adverse-outcome-of-coarctation-stenting-in-patients-with-turner-syndrome
#2
Allard T van den Hoven, Maarten Witsenburg, Jolien W Roos-Hesselink
No abstract text is available yet for this article.
April 18, 2017: Catheterization and Cardiovascular Interventions
https://www.readbyqxmd.com/read/28412999/generation-of-an-induced-pluripotent-stem-cell-line-from-chorionic-villi-of-a-turner-syndrome-spontaneous-abortion
#3
Shagufta Parveen, M M Panicker, Pawan Kumar Gupta
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...
March 2017: Stem Cell Research
https://www.readbyqxmd.com/read/28397183/prepubertal-ultra-low-dose-estrogen-therapy-is-associated-with-healthier-lipid-profile-than-conventional-estrogen-replacement-for-pubertal-induction-in-adolescent-girls-with-turner-syndrome-preliminary-results
#4
Anna Ruszala, Malgorzata Wojcik, Agata Zygmunt-Gorska, Dominika Janus, Joanna Wojtys, Jerzy B Starzyk
PURPOSE: The metabolic effects of prepubertal low-dose estrogen replacement (LE) therapy in Turner syndrome (TS) have not been fully investigated to date. The present study aimed to compare glucose and lipids metabolism in adolescents with TS on LE and conventional estrogen replacement (CE). METHODS: In 14 TS (mean age 13.8), LE (17β-estradiol, 62.5 μg daily) was introduced before age 12 (mean age 10.5), and followed by a pubertal induction regimen after age 12, and in 14 CE was started after age 12 (mean 14, SD 1...
April 10, 2017: Journal of Endocrinological Investigation
https://www.readbyqxmd.com/read/28392504/defects-in-the-first-wave-of-folliculogenesis-in-mouse-xo-ovaries
#5
Kento Miura, Chiharu Murata, Kyoko Harikae, Hitomi Suzuki, Masami Kanai-Azuma, Masamichi Kurohmaru, Naoki Tsunekawa, Yoshiakira Kanai
In mouse ovaries, the first wave of folliculogenesis perinatally starts near the medullary region, which directs the initial round of follicular growth soon after birth. At the same time, cortical primordial follicles start forming in the ovarian surface region, and then some are cyclically recruited for the second and subsequent rounds of follicular growth. Recent studies suggest different dynamics between the first and subsequent waves of follicular growth in postnatal ovaries. However, the phenotypic differences between these phases remain unclear...
April 10, 2017: Journal of Reproduction and Development
https://www.readbyqxmd.com/read/28389010/complications-related-to-turner-syndrome
#6
Natalia Bejarano Ramírez, Francisco Javier Redondo Calvo, Enrique Galán Gómez
No abstract text is available yet for this article.
April 4, 2017: Medicina Clínica
https://www.readbyqxmd.com/read/28385908/isolated-brachydactyly-type-e-and-idiopathic-pancreatitis-in-a-patient-presenting-to-a-lipid-disorders-clinic
#7
Michael M Page, Amanda J Hooper, Paul Glendenning, John R Burnett
An 18-year-old female tertiary student was referred to a lipid clinic with hypertriglyceridaemia discovered after presentation with acute pancreatitis. The patient's only medication was l-thyroxine for treatment of hypothyroidism. She was overweight, normotensive, with unremarkable facies. However, she had hypermobile hand joints and brachydactyly resulting in loss of left 3-5 and right 4 and 5 knuckle definitions. Radiography revealed shortening of metacarpals 3-5 on the left and 4 and 5 on the right. Her mother had similar skeletal changes, consistent with a dominant mode of inheritance...
April 6, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28384960/mullerian-agenesis-associated-with-turner-s-syndrome
#8
Padmanabhan Elamparidhi, Rudrappa Ramesh Kumar, Selvakkalanjiyam Sivaranjinie, Rajakumar Sibhithran
Turner's syndrome is a chromosomal disorder with 45 X0 due to absence of a set of gene from the short arm of X chromosome. The incidence of Turner's syndrome is 1 in 2500 live births. Primary amenorrhea is well known in Turner's syndrome, the reason being streak ovaries; but mullerian agenesis as a cause of primary amenorrhea in Turner's syndrome is a very rare entity. The incidence of Turner's syndrome associated with mullerian agenesis is extremely rare as there is only a hand full of cases reported in literature...
February 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28376481/use-of-hormone-replacement-in-females-with-endocrine-disorders
#9
Sophie Christin-Maitre
Hormone replacement therapy (HRT) is necessary in adolescents with primary ovarian insufficiency (POI) in order to avoid estrogen deficiency. The goal of this minirewiew is to present the different types of estrogens (17β-estradiol, estradiol valerate, ethinyl estradiol, and combined equine estrogens) as well as the different types of progestins available. In order to choose among the different types of HRTs, the features of each regimen are being discussed as well as their risks and their respective benefits...
April 4, 2017: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/28360449/balanced-reciprocal-translocation-t-x-1-in-a-girl-with-tall-stature-and-primary-amenorrhea
#10
Zahra Razavi, Hossein Emad Momtaz
Chromosomal translocations constitute one of the most important, yet uncommon, causes of primary amenorrhea and gonadal dysgenesis. Although X-autosome translocations are frequently associated with streak gonads and clinical features of the Turner syndrome, the majority of X-autosome carriers may present with a variable phenotype, developmental delay, and recognizable X-linked syndrome due to nonrandom X-inactivation. In this article, we describe a healthy 15.5-year-old girl with primary amenorrhea, gonadal dysgenesis, and tall stature without other manifestations of the Turner syndrome...
March 2017: Iranian Journal of Medical Sciences
https://www.readbyqxmd.com/read/28357876/noninvasive-prenatal-screening-for-fetal-common-sex-chromosome-aneuploidies-from-maternal-blood
#11
Bin Zhang, Bei-Yi Lu, Bin Yu, Fang-Xiu Zheng, Qin Zhou, Ying-Ping Chen, Xiao-Qing Zhang
Objective To explore the feasibility of high-throughput massively parallel genomic DNA sequencing technology for the noninvasive prenatal detection of fetal sex chromosome aneuploidies (SCAs). Methods The study enrolled pregnant women who were prepared to undergo noninvasive prenatal testing (NIPT) in the second trimester. Cell-free fetal DNA (cffDNA) was extracted from the mother's peripheral venous blood and a high-throughput sequencing procedure was undertaken. Patients identified as having pregnancies associated with SCAs were offered prenatal fetal chromosomal karyotyping...
January 1, 2017: Journal of International Medical Research
https://www.readbyqxmd.com/read/28349385/risk-of-gonadoblastoma-development-in-patients-with-turner-syndrome-with-cryptic-y-chromosome-material
#12
Ahreum Kwon, Sei Eun Hyun, Mo Kyung Jung, Hyun Wook Chae, Woo Jung Lee, Tae Hyuk Kim, Duk Hee Kim, Ho-Seong Kim
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...
March 27, 2017: Hormones & Cancer
https://www.readbyqxmd.com/read/28336768/care-of-girls-and-women-with-turner-syndrome-beyond-growth-and-hormones
#13
Caroline Culen, Diana-Allexandra Ertl, Katharina Schubert, Lisa Bartha-Doering, Gabriele Haeusler
Turner syndrome (TS), although considered a rare disease, is the most common sex chromosome abnormality in women, with an incident of 1 in 2,500 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...
March 23, 2017: Endocrine Connections
https://www.readbyqxmd.com/read/28332872/characterization-of-spontaneous-and-induced-puberty-in-girls-with-turner-syndrome
#14
Lisal J Folsom, James E Slaven, Zeina M Nabhan, Erica A Eugster
OBJECTIVE: To characterize puberty in girls with Turner syndrome, and determine whether specific patient characteristics are associated with the timing of menarche. We also sought to compare spontaneous vs. induced puberty in these patients. DESIGN/PATIENTS/MEASUREMENTS: Medical records of girls followed in our Pediatric Endocrine clinic for Turner syndrome from 2007 to 2015 were reviewed. RESULTS: Fifty-three girls were included, of whom 10 (19%) achieved menarche spontaneously and 43 (81%) received hormone replacement therapy (HRT)...
March 23, 2017: Endocrine Practice
https://www.readbyqxmd.com/read/28331865/growth-hormone-utilization-review-in-a-pediatric-primary-care-setting
#15
Fatemeh Sayarifard, Fereshteh Bakhshi Imcheh, Shirinsadat Badri, Toktam Faghihi, Mostafa Qorbani, Mania Radfar
OBJECTIVE: One of the main problems facing public health providers and administrators in many countries is ensuring the rational use of high-cost drugs. In this regard, on-going process of medication use evaluation can be considered as a useful tool. In this study, we evaluated certain usage aspects of a highly-cost medication, that is, recombinant growth hormone (GH). METHODS: This cross-sectional study conducted from August 2012 to August 2014. Children receiving GH ± gonadotropin releasing hormone (GnRH) analogs were included in the study...
January 2017: Journal of Research in Pharmacy Practice
https://www.readbyqxmd.com/read/28331102/clinical-features-of-women-with-turner-syndrome-experiencing-transition-period-in-japan
#16
Satsuki Nishigaki, Takashi Hamazaki, Akitoshi Tsuruhara, Toshiko Yoshida, Takuji Imamura, Hiroshi Inada, Keinosuke Fujita, Haruo Shintaku
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...
March 22, 2017: Endocrine Journal
https://www.readbyqxmd.com/read/28324009/whole-exome-sequencing-for-diagnosis-of-turner-syndrome-towards-next-generation-sequencing-and-newborn-screening
#17
David R Murdock, Frank X Donovan, Settara C Chandrasekharappa, Nicole Banks, Carolyn Bondy, Maximilian Muenke, Paul Kruszka
Context, Objectives: Turner syndrome (TS) is due to a complete or partial loss of an X chromosome in females and is not currently part of newborn screening. 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 newborn screening program could be used to diagnose TS. Design, Setting, Patients: Karyotype, chromosomal microarray, and WES were performed on women with TS (n=27) enrolled in the Personalized Genomic Research study at the National Institutes of Health...
January 24, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28306537/clinical-features-of-girls-with-short-stature-among-inv-9-turner-45-x-and-control-individuals
#18
Xuefeng Chen, Xiumin Wang, Guanping Dong, Junfen Fu, Wei Wu, Youjun Jiang
BACKGROUND: The clinical significance of pericentric inversion of chromosome 9 [inv (9)] remains unclear. METHODS: This case control study assessed girls with short stature. According to karyotypes, the subjects were divided into inv (9) [46,XX,inv (9)(p12q13) and 46,XX,inv (9)(p11q13)], Turner syndrome (45, X) and control (normal 46, XX) groups, respectively. Detailed clinical features were compared. RESULTS: Height standard deviation score (SDS) values at diagnosis were -2...
April 1, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28296370/-use-of-recombinant-human-growth-hormone-rhgh
#19
Raúl Calzada-León
Recombinant human growth hormone, synthesized in E.coli or mammalian cells cultures, is since 1985, a useful therapeutic resource to increase growth velocity and final height. In this paper are discussed the four phases (aims, security and efficacy, utility and efficiency) indispensables to define the start of treatment, as well as the absolute, relative and metabolic indications and the transitory and permanent conditions that contraindicate its use. It is commented the way to optimize the results (simple but indispensables indications for the physician, the patients and their family)...
March 2017: Revista Médica del Instituto Mexicano del Seguro Social
https://www.readbyqxmd.com/read/28284085/detection-of-turner-syndrome-using-x-chromosome-inactivation-specific-differentially-methylated-cpg-sites-a-pilot-study
#20
Qiang Zhang, Xiaohong Guo, Tian Tian, Teng Wang, Qiaoli Li, Lei Wang, Yun Liu, Qinghe Xing, Lin He, Xinzhi Zhao
BACKGROUND: Early diagnosis of Turner syndrome (TS) may improve preventive measures and treatment. X-chromosome inactivation specific differentially methylated CpG sites (XIDMSs) that are high methylated in inactive X chromosomes (Xi) and unmethylated in active X chromosomes (Xa) may be potential makers for TS detection. METHODS: The candidate XIDMSs were screened from 9 male and 12 female DNA samples with normal karyotypes using the Illumina 450k array and validated by bisulfite sequencing PCR and pyrosequencing assay...
March 8, 2017: Clinica Chimica Acta; International Journal of Clinical Chemistry
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