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Turner syndrome

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https://www.readbyqxmd.com/read/28324009/whole-exome-sequencing-for-diagnosis-of-turner-syndrome-towards-next-generation-sequencing-and-newborn-screening
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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/28270572/creb-signaling-is-involved-in-rett-syndrome-pathogenesis
#7
Qian Bu, Anxin Wang, Hamdi Hamzah, Alex Waldman, Keer Jiang, Qiping Dong, Ronghui Li, Jason Kim, Daniel Turner, Qiang Chang
Rett syndrome (RTT) is a debilitating neurodevelopmental disorder caused by mutations in the MECP2 gene. To facilitate the study of cellular mechanisms in human cells, we established several human stem cell lines: human embryonic stem cell (hESC) line carrying the common T158M mutation (MECP2(T158M/T158M) ), hESC line expressing no MECP2 (MECP2-KO), congenic pair of wild type and mutant RTT patient-specific induced pluripotent stem cell (iPSC) line carrying the V247fs mutation (V247fs-WT and V247fs-MT), and iPSC line in which the V247fs mutation was corrected by CRISPR/Cas9-based genome editing (V247fs-MT-correction)...
March 7, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/28266736/cardiac-ct-angiography-in-the-emergency-room-apical-hypertrophic-cardiomyopathy-presenting-as-acute-coronary-syndrome
#8
Michael C Turner, Edmund K Kerut, James Mckinnie, Michael Davis, Christine Hinton
A 59-year-old male presented to the emergency room with symptoms of chest tightness and palpitations. Following conversion of atrial fibrillation to sinus rhythm, he had deep symmetrical T-wave changes on his electrocardiogram. Symptoms resolved almost immediately, and his initial troponin was negative. He underwent cardiac CT angiography utilizing an emergency room triage protocol which resulted in a diagnosis of nonobstructive coronary artery disease and apical hypertrophic cardiomyopathy. Following a hospital stay of less than 24 hours, he was discharged to outpatient follow-up on medical management and has remained asymptomatic over 6 months...
March 7, 2017: Echocardiography
https://www.readbyqxmd.com/read/28261575/transition-of-women-with-turner-syndrome-from-pediatrics-to-adult-health-care-current-situation-and-associated-problems
#9
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
#10
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
#11
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/28248916/light-induced-hemiplegia-an-atypical-case-of-retinal-steal-syndrome
#12
David Kerek, Sami Al Kasab, Michael U Antonucci, Raymond D Turner, Tanya N Turan
Atherosclerosis affecting the carotid arteries accounts for up to 20% of ischemic strokes 1. The clinical effects of atherosclerotic occlusive disease vary according to multiple factors, one of which is collateral circulation. In response to a chronic decrease in cerebral perfusion from atherosclerotic occlusion, alternative flow pathways, or collaterals, develop in a variety of patterns. In the setting of carotid occlusion, flow from the Circle of Willis, if complete, often comprises the main cerebral collateral network...
March 2017: Neurologist
https://www.readbyqxmd.com/read/28248154/collaborative-care-and-active-surveillance-for-screen-positive-elders-with-subthreshold-depression-casper-a-multicentred-randomised-controlled-trial-of-clinical-effectiveness-and-cost-effectiveness
#13
Helen Lewis, Joy Adamson, Katie Atherton, Della Bailey, Jacqueline Birtwistle, Katharine Bosanquet, Emily Clare, Jaime Delgadillo, David Ekers, Deborah Foster, Rhian Gabe, Samantha Gascoyne, Lesley Haley, Rebecca Hargate, Catherine Hewitt, John Holmes, Ada Keding, Amanda Lilley-Kelly, Jahnese Maya, Dean McMillan, Shaista Meer, Jodi Meredith, Natasha Mitchell, Sarah Nutbrown, Karen Overend, Madeline Pasterfield, David Richards, Karen Spilsbury, David Torgerson, Gemma Traviss-Turner, Dominic Trépel, Rebecca Woodhouse, Friederike Ziegler, Simon Gilbody
BACKGROUND: Efforts to reduce the burden of illness and personal suffering associated with depression in older adults have focused on those with more severe depressive syndromes. Less attention has been paid to those with mild disorders/subthreshold depression, but these patients also suffer significant impairments in their quality of life and level of functioning. There is currently no clear evidence-based guidance regarding treatment for this patient group. OBJECTIVES: To establish the clinical effectiveness and cost-effectiveness of a low-intensity intervention of collaborative care for primary care older adults who screened positive for subthreshold depression...
February 2017: Health Technology Assessment: HTA
https://www.readbyqxmd.com/read/28243882/improving-patient-outcomes-in-fibrous-dysplasia-mccune-albright-syndrome-an-international-multidisciplinary-workshop-to-inform-an-international-partnership
#14
A M Boyce, A Turner, L Watts, L Forestier-Zhang, A Underhill, R Pinedo-Villanueva, F Monsell, D Tessaris, C Burren, L Masi, N Hamdy, M L Brandi, R Chapurlat, M T Collins, Muhammad Kassim Javaid
To develop consensus on improving the management of patients, we convened an international workshop involving patients, clinicians, and researchers. Key findings included the diagnostic delay and variability in subsequent management with agreement to develop an international natural history study. We now invite other stakeholders to join the partnership. PURPOSE: The aim of this study was develop a consensus on how to improve the management of patients with fibrous dysplasia and prioritize areas for research METHODS: An international workshop was held over 3 days involving patients, clinicians, and researchers...
December 2017: Archives of Osteoporosis
https://www.readbyqxmd.com/read/28239872/-betwixt-and-between-liminality-in-recovery-stories-from-people-with-myalgic-encephalomyelitis-me-or-chronic-fatigue-syndrome-cfs
#15
Brian Brown, Kate Huszar, Rosemary Chapman
This paper explores experiences of 16 people claiming to have recovered from Myalgic Encephalomyelitis (ME) or Chronic Fatigue Syndrome (CFS) using the concept of liminality. Liminality describes the status of those falling between socially recognised and medically sanctioned categories, and illuminates both the experience of illness and the process of recovery from ME/CFS. The liminality experienced during illness was akin to that described by Turner with a degree of communitas among sufferers. As recovery progressed, participants stressed the percentage to which they had improved, and compared themselves with peers and themselves prior to the illness...
February 27, 2017: Sociology of Health & Illness
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
#16
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
#17
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
#18
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
#19
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
#20
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
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