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"Turner Syndrome"

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https://www.readbyqxmd.com/read/28228961/concurrent-van-der-woude-syndrome-and-turner-syndrome-a-case-report
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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
https://www.readbyqxmd.com/read/28198067/verbal-spatial-iq-discrepancies-impact-brain-activation-associated-with-the-resolution-of-cognitive-conflict-in-children-and-adolescents
#7
Amy E Margolis, Katie S Davis, Lisa S Pao, Amy Lewis, Xiao Yang, Gregory Tau, Guihu Zhao, Zhishun Wang, Rachel Marsh
Verbal-spatial discrepancies are common in healthy individuals and in those with neurodevelopmental disorders associated with cognitive control deficits including: Autism Spectrum Disorder, Non-Verbal Learning Disability, Fragile X, 22q11 deletion, and Turner Syndrome. Previous data from healthy individuals suggest that the magnitude of the difference between verbal IQ (VIQ) and performance IQ (PIQ) scores (the VIQ>PIQ discrepancy) is associated with reduced thickness in frontal and parietal cortices (inferior frontal, anterior cingulate, inferior parietal lobule, and supramarginal gyrus) that support cognitive control...
February 15, 2017: Developmental Science
https://www.readbyqxmd.com/read/28186596/-clinical-manifestation-and-cytogenetic-analysis-of-607-patients-with-turner-syndrome
#8
Jiemei Zheng, Zhiying Liu, Pei Xia, Yi Lai, Yangjun Wei, Yanyan Liu, Jiurong Chen, Li Qin, Liangyu Xie, He Wang
OBJECTIVE: To explore the correlation between cytogenetic findings and clinical manifestations of Turner syndrome. METHODS: 607 cases of cytogenetically diagnosed Turner syndrome, including those with a major manifestation of Turner syndrome, were analyzed with conventional G-banding. Correlation between the karyotypes and clinical features were analyzed. RESULTS: Among the 607 cases, there were 154 cases with monosomy X (25.37%). Mosaicism monosomy X was found in 240 patients (39...
February 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28184962/magnetic-resonance-imaging-4-d-flow-based-analysis-of-aortic-hemodynamics-in-turner-syndrome
#9
Raoul Arnold, Marie Neu, Daniel Hirtler, Charlotte Gimpel, Michael Markl, Julia Geiger
BACKGROUND: Cardiovascular surveillance is important in Turner syndrome because of the increased risk of aortic dilation and dissection with consecutively increased mortality. OBJECTIVE: To compare 4-D flow MRI for the characterization of aortic 3-D flow patterns, dimensions and vessel wall parameters in pediatric patients with Turner syndrome and age-matched controls. MATERIALS AND METHODS: We performed 4-D flow MRI measuring in vivo 3-D blood flow with coverage of the thoracic aorta in 25 patients with Turner syndrome and in 16 female healthy controls (age mean ± standard deviation were 16 ± 5 years and 17 ± 4 years, respectively)...
February 9, 2017: Pediatric Radiology
https://www.readbyqxmd.com/read/28174642/prolonged-qt-interval-and-cardiac-arrest-after-a-single-dose-of-amiodarone-in-a-woman-with-turner-s-syndrome
#10
Dorte Guldbrand Nielsen, Jens Cosedis Nielsen, Christian Trolle, Claus Højbjerg Gravholt, Niels Holmark Andersen
Low-dose QT-prolonging drugs may have detrimental effects on women with Turner's syndrome. Preventive measures would be to use potential QT-prolonging drugs with precaution and ensure that both before and during treatment, ECGs are evaluated and drug treatment stopped if the QT interval increases.
February 2017: Clinical Case Reports
https://www.readbyqxmd.com/read/28173651/-rapidly-progressive-puberty-in-a-patient-with-mosaic-turner-syndrome-a-case-report-and-literature-review
#11
Y Liang, H Wei, X Yu, W Huang, X P Luo
Objective: To explore the clinical characteristics of diagnosis and treatment in patients with Turner syndrome and rapidly progressive puberty. Method: A rare case of rapidly progressive puberty in Turner syndrome with a mosaic karyotype of 45, X/46, X, del(X)(p21)(80%/20%)was diagnosed at Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology in January. 2015. Clinical characteristics and the related literature were reviewed. Original papers on precocious puberty or rapidly progressive puberty in Turner syndrome, published until Apr...
February 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/28138789/phrenic-nerve-palsy-secondary-to-parsonage-turner-syndrome-a-diagnosis-commonly-overlooked
#12
Tom McEnery, Ronan Walsh, Conor Burke, Aisling McGowan, John Faul, Liam Cormican
Neuralgic Amyotrophy (NA) or Parsonage-Turner syndrome is an idiopathic neuropathy commonly affecting the brachial plexus. Associated phrenic nerve involvement, though recognised, is thought to be very rare. We present a case series of four patients (all male, mean age 53) presenting with dyspnoea preceded by severe self-limiting upper limb and shoulder pain, with an elevated hemi-diaphragm on clinical examination and chest X-ray. Neurological examination of the upper limb at the time of presentation was normal...
January 30, 2017: Lung
https://www.readbyqxmd.com/read/28137251/autism-spectrum-disorder-associated-with-49-xyyyy-case-report-and-review-of-the-literature
#13
Caroline Demily, Alice Poisson, Elodie Peyroux, Valérie Gatellier, Alain Nicolas, Caroline Rigard, Caroline Schluth-Bolard, Damien Sanlaville, Massimiliano Rossi
BACKGROUND: Sex chromosome aneuploidies occur in approximately one in 420 live births. The most frequent abnormalities are 45,X (Turner syndrome), 47,XXX (triple X), 47,XXY (Klinefelter syndrome), and 47,XYY. The prevalence of males with more than one extra sex chromosome (e.g. 48,XXYY or 48,XXXY) is less common. However, the literature provides little information about the cognitive and behavioural phenotype and the natural history of the disease. We report the clinical, neurocognitive, social cognitive and psychiatric characterization of a patient with 49,XYYYY syndrome...
January 31, 2017: BMC Medical Genetics
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
#14
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...
2016: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/28099131/turner-syndrome-and-pituitary-adenomas-a-case-report-and-review-of-literature
#15
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...
February 1, 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
#16
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
#17
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
#18
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
#19
EDITORIAL
Claus H Gravholt
No abstract text is available yet for this article.
February 2017: 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
#20
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
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