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Turner syndrom

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https://www.readbyqxmd.com/read/29449075/cardiac-transplantation-in-children-with-down-syndrome-turner-syndrome-and-other-chromosomal-anomalies-a-multi-institutional-outcomes-analysis
#1
Christopher R Broda, Antonio G Cabrera, Joseph W Rossano, John L Jefferies, Jeffrey A Towbin, Clifford Chin, Pirouz Shamszad
BACKGROUND: The purpose of this study was to describe the prevalence, characteristics, and outcomes in pediatric patients with chromosomal anomalies (CA) undergoing orthotopic heart transplantation (OHT). METHODS: A query of the database of the Pediatric Health Information System, a large administrative and billing database of 43 tertiary children's hospitals, was performed for the Years 2004 to 2016. Pediatric patients who received OHT were analyzed based on presence and type of CA...
January 31, 2018: Journal of Heart and Lung Transplantation
https://www.readbyqxmd.com/read/29443807/multimodal-imaging-of-angioid-streaks-associated-with-turner-syndrome
#2
Bing Q Chiu, Edmund Tsui, Syed Amal Hussnain, Irene A Barbazetto, R Theodore Smith
PURPOSE: To report multimodal imaging in a novel case of angioid streaks in a patient with Turner syndrome with 10-year follow-up. METHODS: Case report of a patient with Turner syndrome and angioid streaks followed at Bellevue Hospital Eye Clinic from 2007 to 2017. Fundus photography, fluorescein angiography, and optical coherence tomography angiography were obtained. RESULTS: Angioid streaks with choroidal neovascularization were noted in this patient with Turner syndrome without other systemic conditions previously correlated with angioid streaks...
February 13, 2018: Retinal Cases & Brief Reports
https://www.readbyqxmd.com/read/29439729/application-of-neural-networks-for-classification-of-patau-edwards-down-turner-and-klinefelter-syndrome-based-on-first-trimester-maternal-serum-screening-data-ultrasonographic-findings-and-patient-demographics
#3
Aida Catic, Lejla Gurbeta, Amina Kurtovic-Kozaric, Senad Mehmedbasic, Almir Badnjevic
BACKGROUND: The usage of Artificial Neural Networks (ANNs) for genome-enabled classifications and establishing genome-phenotype correlations have been investigated more extensively over the past few years. The reason for this is that ANNs are good approximates of complex functions, so classification can be performed without the need for explicitly defined input-output model. This engineering tool can be applied for optimization of existing methods for disease/syndrome classification. Cytogenetic and molecular analyses are the most frequent tests used in prenatal diagnostic for the early detection of Turner, Klinefelter, Patau, Edwards and Down syndrome...
February 13, 2018: BMC Medical Genomics
https://www.readbyqxmd.com/read/29438552/estrogen-replacement-in-turner-syndrome-literature-review-and-practical-considerations
#4
Karen O Klein, Robert Rosenfield, Richard J Santen, Aneta Gawlik, Philippe Backeljauw, Claus H Gravholt, Theo Sas, Nelly Mauras
Context: Most girls with Turner Syndrome have hypergonadotropic hypogonadism and need hormonal replacement - for induction of puberty and later maintaining secondary sex characteristics, attaining peak bone mass, and uterine growth. The optimal estrogen replacement regimen is still being studied. Evidence Acquisition: We conducted a systematic search of PubMed for research related to TS and puberty, including key words: estrogen, growth, puberty. Evidence Synthesis: The goals of replacement are to mimic normal timing and progression of physical and social development while minimizing risks...
February 8, 2018: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/29430158/delayed-presentation-of-turner-syndrome-challenge-to-optimal-management
#5
Uma Kaimal Saikia, Dipti Sarma, Yogesh Yadav
Background: Turner syndrome (TS) is a chromosomal disorder associated with dysmorphic features and comorbidities, with recent trends focusing on early diagnosis for adequate management. Aim: The aim is to study the age and mode of presentation of TS, associated comorbidities and look for any correlation with the genotype. Material and Methods: This was a retrospective analysis of girls with TS attending the endocrinology clinic of a tertiary care center...
October 2017: Journal of Human Reproductive Sciences
https://www.readbyqxmd.com/read/29427215/systematic-review-of-quality-of-life-in-turner-syndrome
#6
REVIEW
Carolina Trombeta Reis, Maíra Seabra de Assumpção, Gil Guerra-Junior, Sofia Helena Valente de Lemos-Marini
PURPOSE: This study aimed to systematically review the available literature on "quality of life" (QoL) or "health-related quality of life" (HRQoL) in Turner syndrome (TS) patients and to analyze the relations among height, puberty, and the use of growth hormone (GH) and the QoL of TS patients. METHODS: An electronic bibliographic search was conducted through the PubMed, Embase, Bireme, Scopus, and Web of Science databases. The main terms were "Quality of Life" and "Turner syndrome...
February 9, 2018: Quality of Life Research
https://www.readbyqxmd.com/read/29424285/shifting-syndromes-sex-chromosome-variations-and-intersex-classifications
#7
David Andrew Griffiths
The 2006 'Consensus statement on management of intersex disorders' recommended moving to a new classification of intersex variations, framed in terms of 'disorders of sex development' or DSD. Part of the rationale for this change was to move away from associations with gender, and to increase clarity by grounding the classification system in genetics. While the medical community has largely accepted the move, some individuals from intersex activist communities have condemned it. In addition, people both inside and outside the medical community have disagreed about what should be covered by the classification system, in particular whether sex chromosome variations and the related diagnoses of Turner and Klinefelter's syndromes should be included...
February 2018: Social Studies of Science
https://www.readbyqxmd.com/read/29419858/-origin-and-morphological-features-of-small-supernumerary-marker-chromosomes-in-turner-syndrome
#8
Nan Liu, Tong Tong, Yue Chen, Yanling Chen, Chunquan Cai
OBJECTIVE To explore the origin and morphological features of small supernumerary marker chromosomes (sSMCs) in Turner syndrome. METHODS For 5 cases of Turner syndrome with a sSMC identified by conventional G-banding, dual-color fluorescence in situ hybridization (FISH) was applied to explore their origin and morphological features. RESULTS Among the 5 cases, 3 have derived from the X chromosome, which included 2 ring chromosomes and 1 centric minute. For the 2 sSMCs derived from the Y chromosome, 1 was ring or isodicentric chromosome, while the other was an isodicentric chromosome...
February 10, 2018: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/29417599/obstetricians-views-on-the-ethics-of-cardiac-surgery-for-newborns-with-common-aneuploidies
#9
Gary Fruhman, Collin Miller, Erol Amon, Darbey Raible, Rachael Bradshaw, Kimberly Martin
OBJECTIVE: To examine whether obstetricians think that cardiac surgery is ethical in babies with common aneuploidies and whether insurance companies should be required to pay for these surgeries. STUDY DESIGN: A survey was e-mailed to 2,897 OB-GYNs and 898 (31%) actively practicing obstetricians responded to the survey. Respondents were asked whether it is ethical to offer cardiac surgery for babies with heart defects diagnosed with trisomies 21, 18, 13, and Turner Syndrome and whether insurance companies should be required to pay for such surgeries in cases of trisomy 18 or 13...
February 7, 2018: Prenatal Diagnosis
https://www.readbyqxmd.com/read/29415703/fsh-may-be-a-useful-tool-to-allow-early-diagnosis-of-turner-syndrome
#10
Stela Carpini, Annelise Barreto Carvalho, Sofia Helena Valente de Lemos-Marini, Gil Guerra-Junior, Andréa Trevas Maciel-Guerra
BACKGROUND: Ultrasensitive assays to measure pre-pubertal gonadotropins levels could help identify patients with Turner syndrome (TS) in mid-childhood, but studies in this field are scarce. The aim of this study was to analyze gonadotropins levels in girls with TS throughout childhood. METHODS: Retrospective longitudinal study conducted with 15 girls with TS diagnosed with < 5 years whose FSH and LH measures were available since then. Hormones were evaluated in newborn/mini-puberty (< 0...
February 7, 2018: BMC Endocrine Disorders
https://www.readbyqxmd.com/read/29406001/turner-syndrome-diagnostic-and-management-considerations-for-perinatal-clinicians
#11
REVIEW
Jacob M Redel, Philippe F Backeljauw
The perinatal clinician needs to understand certain essential concepts when encountering an infant with a suspected or confirmed diagnosis of Turner syndrome. This article describes the key clinical features that should prompt testing, the appropriate diagnostic workup, the necessary screening required after diagnosis, and how to best approach family counseling.
March 2018: Clinics in Perinatology
https://www.readbyqxmd.com/read/29393965/de-novo-variants-in-cdk13-associated-with-syndromic-id-dd-molecular-and-clinical-delineation-of-15-individuals-and-a-further-review
#12
Willem M R van den Akker, Iris Brummelman, Lavinia M Martis, Renée N Timmermans, Rolph Pfundt, Tjitske Kleefstra, Marjolein H Willemsen, Erica H Gerkes, Johanna C Herkert, Anthonie J van Essen, Patrick Rump, Fleur Vansenne, Paulien A Terhal, Mieke M van Haelst, Ingrid Cristian, Clesson E Turner, Megan T Cho, Amber Begtrup, Rebecca Willaert, Emily Fassi, Koen L I van Gassen, Alexander P A Stegmann, Bert B A de Vries, Janneke H M Schuurs-Hoeijmakers
De novo variants in the gene encoding cyclin-dependent kinase 13 (CDK13) have been associated with congenital heart defects and intellectual disability (ID). Here, we present the clinical assessment of fifteen individuals and report novel de novo missense variants within the kinase domain of CDK13. Furthermore, we describe two nonsense variants and a recurrent frame-shift variant. We demonstrate the synthesis of two aberrant CDK13 transcripts in lymphoblastoid cells from an individual with a splice-site variant...
February 2, 2018: Clinical Genetics
https://www.readbyqxmd.com/read/29392348/determinants-of-increased-aortic-diameters-in-young-normotensive-patients-with-turner-syndrome-without-structural-heart-disease
#13
A Uçar, Melike Tuğrul, Bülent Oğuz Erol, Ensar Yekeler, Banu Aydın, Seher Yıldız, Kemal Nişli, Firdevs Baş, Şükran Poyrazoğlu, Feyza Darendeliler, Nurçin Saka, Aylin Yetim Şahin, Yasin Yılmaz, Rüveyde Bundak
Factors associated with aortic dilation and dissection in patients with Turner syndrome (TS) remain unclear. We assessed magnetic resonance imaging-based aortic diameters at nine predefined anatomic positions and examined associations of increased aortic diameters with B-type natriuretic peptide (BNP), A-type NP (ANP), growth hormone treatment, insulin-like growth factor 1 (IGF1), and estrogen status. Forty-seven patients with TS aged 7.3-21 years and 34 healthy peers were enrolled in this study. Aortic diameters were higher in patients with TS at three positions than in controls (p < 0...
February 1, 2018: Pediatric Cardiology
https://www.readbyqxmd.com/read/29372397/aortic-root-remodeling-in-a-patient-with-turner-syndrome-using-the-reference-curves-of-aortic-diameters-in-children
#14
Goki Inno, Yosuke Takahashi, Yasuyuki Kato, Yasuyuki Sasaki
We report the successful surgical treatment of aortic regurgitation in a 27-year-old woman with Turner syndrome (TS) who was admitted with exacerbation of dyspnea on exertion. Echocardiography showed a bicuspid aortic valve with severe aortic regurgitation and computed tomography showed dilatation of the ascending aorta and aortic root. Due to the patient's low body surface area (due to TS), standard determination of aortic size was not possible; therefore, we used the reference curves of aortic diameters in children...
January 25, 2018: General Thoracic and Cardiovascular Surgery
https://www.readbyqxmd.com/read/29368186/protection-before-impact-the-potential-neuroprotective-role-of-nutritional-supplementation-in-sports-related-head-trauma
#15
REVIEW
Jonathan M Oliver, Anthony J Anzalone, Stephanie M Turner
Even in the presence of underreporting, sports-related concussions/mild traumatic brain injuries (mTBI) are on the rise. In the absence of proper diagnosis, an athlete may return to play prior to full recovery, increasing the risk of second-impact syndrome or protracted symptoms. Recent evidence has demonstrated that sub-concussive impacts, those sustained routinely in practice and competition, result in a quantifiable pathophysiological response and the accumulation of both concussive and sub-concussive impacts sustained over a lifetime of sports participation may lead to long-term neurological impairments and an increased risk of developing neurodegenerative diseases...
January 24, 2018: Sports Medicine
https://www.readbyqxmd.com/read/29351567/whole-thorax-irradiation-of-non-human-primates-induces-persistent-nuclear-damage-and-gene-expression-changes-in-peripheral-blood-cells
#16
Shanaz A Ghandhi, Helen C Turner, Igor Shuryak, Gregory O Dugan, J Daniel Bourland, John D Olson, Janet A Tooze, Shad R Morton, Ines Batinic-Haberle, J Mark Cline, Sally A Amundson
We investigated the cytogenetic and gene expression responses of peripheral blood cells of non-human primates (NHP, Macaca mulatta) that were whole-thorax irradiated with a single dose of 10 Gy. In this model, partial irradiation of NHPs in the thoracic region (Whole Thorax Lung Irradiation, WTLI) allows the study of late radiation-induced lung injury, while avoiding acute radiation syndromes related to hematopoietic and gastrointestinal injury. A transient drop in circulating lymphocytes and platelets was seen by 9 days, followed by elevations in respiratory rate, circulating neutrophils, lymphocytes, and monocytes at 60-100 days, corresponding to computed tomography (CT) and histologic evidence of pneumonitis, and elective euthanasia of four animals...
2018: PloS One
https://www.readbyqxmd.com/read/29350159/clinical-and-molecular-epidemiology-of-staphylococcal-toxic-shock-syndrome-in-the-united-kingdom
#17
Hema Sharma, Debra Smith, Claire E Turner, Laurence Game, Bruno Pichon, Russell Hope, Robert Hill, Angela Kearns, Shiranee Sriskandan
Staphylococcal toxic shock syndrome (TSS) was originally described in menstruating women and linked to TSS toxin 1 (TSST-1)-producing Staphylococcus aureus. Using UK national surveillance data, we ascertained clinical, molecular and superantigenic characteristics of TSS cases. Average annual TSS incidence was 0.07/100,000 population. Patients with nonmenstrual TSS were younger than those with menstrual TSS but had the same mortality rate. Children <16 years of age accounted for 39% of TSS cases, most caused by burns and skin and soft tissue infections...
February 2018: Emerging Infectious Diseases
https://www.readbyqxmd.com/read/29344338/current-best-practice-in-the-management-of-turner-syndrome
#18
REVIEW
Roopa Kanakatti Shankar, Philippe F Backeljauw
Turner syndrome (TS) is characterized by partial or complete loss of the second X-chromosome in phenotypic females resulting in a constellation of clinical findings that may include lymphedema, cardiac anomalies, short stature, primary ovarian failure and neurocognitive difficulties. Optimizing health care delivery is important to enable these individuals achieve their full potential. We review the current best practice management recommendations for individuals with TS focusing on the latest consensus opinion in regard to genetic diagnosis, treatment of short stature, estrogen supplementation, addressing psychosocial issues, as well screening for other comorbidities...
January 2018: Therapeutic Advances in Endocrinology and Metabolism
https://www.readbyqxmd.com/read/29343557/dicer1-and-associated-conditions-%C3%A2-identification-of-at-risk-individuals-and-recommended-surveillance-strategies
#19
Kris Ann P Schultz, Gretchen M Williams, Junne Kamihara, Douglas R Stewart, Anne K Harris, Andrew J Bauer, Joyce Turner, Rachana Shah, Katherine Schneider, Kami Wolfe Schneider, Ann Garrity Carr, Laura A Harney, Shari Baldinger, A Lindsay Frazier, Daniel Orbach, Dominik T Schneider, David Malkin, Louis P Dehner, Yoav H Messinger, Ashley Hill
Pathogenic germline DICER1 variants cause a hereditary cancer predisposition syndrome with a variety of manifestations. In addition to conferring increased cancer risks for pleuropulmonary blastoma (PPB) and ovarian sex cord-stromal tumors, particularly Sertoli-Leydig cell tumor, individuals with pathogenic germline DICER1 variants may also develop lung cysts, cystic nephroma, renal sarcoma and Wilms tumor, nodular hyperplasia of the thyroid, nasal chondromesenchymal hamartoma, ciliary body medulloepithelioma, genitourinary embryonal rhabdomyosarcoma and brain tumors including pineoblastoma and pituitary blastoma...
January 17, 2018: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
https://www.readbyqxmd.com/read/29339108/phenotype-in-girls-and-women-with-turner-syndrome-association-between-dysmorphic-features-karyotype-and-cardio-aortic-malformations
#20
Iris Noordman, Anthonie Duijnhouwer, Livia Kapusta, Marlies Kempers, Nel Roeleveld, Michiel Schokking, Dominique Smeets, Kim Freriks, Henri Timmers, Janiëlle van Alfen-van der Velden
INTRODUCTION: Turner syndrome (TS) is a genetic disorder characterized by the (partial) absence or a structural aberration of the second sex chromosome and is associated with a variety of phenotypes with specific physical features and cardio-aortic malformations. The objective of this study was to gain a better insight into the differences in dysmorphic features between girls and women with TS and to explore the association between these features, karyotype and cardio-aortic malformations...
January 12, 2018: European Journal of Medical Genetics
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