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"Turner Syndrome"

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https://www.readbyqxmd.com/read/28332872/characterization-of-spontaneous-and-induced-puberty-in-girls-with-turner-syndrome
#1
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
#2
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
#3
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
#4
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
#5
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...
March 17, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28296370/-use-of-recombinant-human-growth-hormone-rhgh
#6
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
#7
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
https://www.readbyqxmd.com/read/28275532/surgical-correction-of-the-webbed-neck-an-alternative-lateral-approach
#8
Imen Mehri Turki
Objective: The webbed neck deformity or pterygium colli is the number one symptom of the Turner syndrome that leads the patient to consult a doctor. Various but rare surgical approaches have been described to correct this deformity. We reviewed our experience with the surgical correction of the pterygium colli. Methods: Through five clinical cases, we describe the surgical technique with a lateral approach which provides a better control of the operative site, allows for the excision of the underlying trapezial fascial web, thus preventing recurrence seen in the posterior approach, and restores a normal hairline...
2017: GMS Interdisciplinary Plastic and Reconstructive Surgery DGPW
https://www.readbyqxmd.com/read/28270874/relationship-between-obesity-and-liver-enzymes-levels-in-turner-s-syndrome
#9
Farzaneh Rohani, Fatemeh Golgiri, Mohammad Reza Alaei, Mojgan Karimi, Parham Nikraftar, Ramin Bozorgmehr
BACKGROUND: Liver enzyme abnormalities have been reported in Turner's syndrome (TS). There are some studies about possible causes of abnormal levels of liver enzymes. One of the main suggestions is obesity. The study aimed to determine the relationship between obesity and liver enzymes levels in patients with TS. METHODS: Forty-one karyotype-proven TS patients referred to Endocrinology and Metabolism Research Center were included in this cross-sectional study. Height and weight of patients were measured and their body mass index (BMI) was calculated...
February 2017: Gastroenterology Research
https://www.readbyqxmd.com/read/28261575/transition-of-women-with-turner-syndrome-from-pediatrics-to-adult-health-care-current-situation-and-associated-problems
#10
Hideya Sakakibara
No abstract text is available yet for this article.
2017: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/28260712/a-case-of-turner-syndrome-46xxp-45x-complicated-with-crohn-s-disease-after-hormone-therapy
#11
Yutaro Ihara, Kazuoki Hizawa, Kouhei Fujita, Masahiro Iida, Ema Washio, Takahiro Kai, Tomoki Nitahata, Motohiro Esaki, Mitsuo Iida
A 19-year-old woman, who had been receiving hormone replacement therapy for 13 months before the diagnosis of mosaic Turner syndrome (46XXp-/45X), developed Crohn's colitis and erythema nodosum of the lower legs. Colonoscopy revealed an anal fistula and the presence of deep longitudinal ulcers with cobblestoning in the colorectum. Therapy with prednisolone and adalimumab was effective for the intestinal and skin lesions. To date, all seven case reports of Turner syndrome in Japan have also developed Crohn's disease after hormone therapy, suggesting a possible association of sex hormones in the pathogenesis...
2017: Nihon Shokakibyo Gakkai Zasshi, the Japanese Journal of Gastro-enterology
https://www.readbyqxmd.com/read/28249771/effects-of-the-copy-number-of-ribosomal-genes-genes-for-rrna-on-viability-of-subjects-with-chromosomal-abnormalities
#12
N A Lyapunova, L N Porokhovnik, N V Kosyakova, I A Mandron, T G Tsvetkova
The number of active ribosomal genes (AcRG) was evaluated in 172 carriers of chromosomal abnormalities (CA) such as Down's syndrome (DS), Robertsonian translocations (RT), Klinefelter's and Turner's syndromes, trisomy Х, disomy Y, and various structural CA. In controls (n=318), AcRG dosage varied from 119 to 190 copies with a mean of 151 copies per diploid genome. In CA carriers, except for DS newborns, AcRG dosage was not beyond these limits. As shown previously, only within these limits cellular homeostasis and organism's viability can be supported, while genomes beyond these limits are eliminated by embryonic loss...
February 26, 2017: Gene
https://www.readbyqxmd.com/read/28236629/increased-prevalence-of-bicuspid-aortic-valve-in-turner-syndrome-links-with-karyotype-the-crucial-importance-of-detailed-cardiovascular-screening
#13
Eva Klásková, Jiřina Zapletalová, Sabina Kaprálová, Marta Šnajderová, Jan Lebl, Zbyněk Tüdös, Jan Pavlíček, Jana Černá, Vladimír Mihál, Veronika Stará, Martin Procházka
BACKGROUND: 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. METHODS: 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)...
March 1, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28236628/resting-energy-expenditure-in-girls-with-turner-syndrome
#14
Gerhard Binder, Laura Frank, Julian Ziegler, Gunnar Blumenstock, Roland Schweizer
BACKGROUND: Knowledge concerning energy metabolism in Turner syndrome (TS) is lacking. We compared the resting energy expenditure per fat-free mass (REE/FFM) in TS with other girls with short stature treated with growth hormone (GH) and age-related controls. METHODS: We measured prospectively REE by spirometry under fasting conditions in the morning in 85 short prepubertal girls at the start of GH treatment. Diagnoses were TS (n=20), GH deficiency (GHD) (n=38) and small for gestational age (SGA) short stature (n=27)...
March 1, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28228961/concurrent-van-der-woude-syndrome-and-turner-syndrome-a-case-report
#15
Evan Los, Hayley Baines, Ines Guttmann-Bauman
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 insufficiency associated with clefts before correctly diagnosing Turner syndrome...
2017: SAGE open medical case reports
https://www.readbyqxmd.com/read/28224649/sex-chromosomal-abnormalities-associated-with-equine-infertility-validation-of-a-simple-molecular-screening-tool-in-the-purebred-spanish-horse
#16
G Anaya, A Molina, M Valera, M Moreno-Millán, P Azor, P Peral-García, S Demyda-Peyrás
Chromosomal abnormalities in the sex chromosome pair (ECAX and ECAY) are widely associated with reproductive problems in horses. However, a large proportion of these abnormalities remains undiagnosed due to the lack of an affordable diagnostic tool that allows for avoiding karyotyping tests. Hereby, we developed an STR (single-tandem-repeat)-based molecular method to determine the presence of the main sex chromosomal abnormalities in horses in a fast, cheap and reliable way. The frequency of five ECAX-linked (LEX026, LEX003, TKY38, TKY270 and UCDEQ502) and two ECAY-linked (EcaYH12 and SRY) markers was characterized in 261 Purebred Spanish Horses to determine the efficiency of the methodology developed to be used as a chromosomal diagnostic tool...
February 22, 2017: Animal Genetics
https://www.readbyqxmd.com/read/28222756/proximal-aortic-stiffening-in-turner-patients-may-be-present-before-dilation-can-be-detected-a-segmental-functional-mri-study
#17
Daniel G H Devos, Katya De Groote, Danilo Babin, Laurent Demulier, Yves Taeymans, Jos J Westenberg, Luc Van Bortel, Patrick Segers, Eric Achten, Jean De Schepper, Ernst Rietzschel
BACKGROUND: To study segmental structural and functional aortic properties in Turner syndrome (TS) patients. Aortic abnormalities contribute to increased morbidity and mortality of women with Turner syndrome. Cardiovascular magnetic resonance (CMR) allows segmental study of aortic elastic properties. METHOD: We performed Pulse Wave Velocity (PWV) and distensibility measurements using CMR of the thoracic and abdominal aorta in 55 TS-patients, aged 13-59y, and in a control population (n = 38;12-58y)...
February 13, 2017: Journal of Cardiovascular Magnetic Resonance
https://www.readbyqxmd.com/read/28222116/the-role-of-short-term-memory-and-visuo-spatial-skills-in-numerical-magnitude-processing-evidence-from-turner-syndrome
#18
Lucie Attout, Marie-Pascale Noël, Marie-Cécile Nassogne, Laurence Rousselle
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...
2017: PloS One
https://www.readbyqxmd.com/read/28214339/turner-syndrome-and-duchenne-muscular-dystrophy
#19
Sumit Verma, Parul Goyal, Charlotte Beam, Durga Shah
No abstract text is available yet for this article.
February 18, 2017: Muscle & Nerve
https://www.readbyqxmd.com/read/28207470/improving-functional-and-aesthetic-outcomes-in-syndromic-patients-with-webbed-neck-deformity-utilizing-a-staged-endoscopic-assisted-approach-to-improve-the-posterior-hairline-and-decrease-scar-burden
#20
Emily Van Kouwenberg, Anmol S Chattha, Oluwaseun A Adetayo
INTRODUCTION: Webbed neck deformity (WND) can have significant functional and psychosocial impact on the developing child. Surgical correction can be challenging depending on the extent of the deformity, and patients often also have low posterior hairlines requiring simultaneous correction. Current surgical techniques include various methods of single-stage radical excision that often result in visible scar burden and residual deformity. There is currently no general consensus of which technique provides the best outcomes...
February 15, 2017: Journal of Craniofacial Surgery
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