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Turner's syndrome

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https://www.readbyqxmd.com/read/29675452/attaching-and-effacing-pathogens-exploit-junction-regulatory-activities-of-n-wasp-and-snx9-to-disrupt-the-intestinal-barrier
#1
John J Garber, Emily M Mallick, Karen M Scanlon, Jerrold R Turner, Michael S Donnenberg, John M Leong, Scott B Snapper
Background & Aims: Neural Wiskott-Aldrich Syndrome protein (N-WASP) is a key regulator of the actin cytoskeleton in epithelial tissues and is poised to mediate cytoskeletal-dependent aspects of apical junction complex (AJC) homeostasis. Attaching-and-effacing (AE) pathogens disrupt this homeostasis through translocation of the effector molecule early secreted antigenic target-6 (ESX)-1 secretion-associated protein F (EspF). Although the mechanisms underlying AJC disruption by EspF are unknown, EspF contains putative binding sites for N-WASP and the endocytic regulator sorting nexin 9 (SNX9)...
March 2018: Cellular and Molecular Gastroenterology and Hepatology
https://www.readbyqxmd.com/read/29666205/human-cerebral-evolution-and-the-clinical-syndrome-of-amyotrophic-lateral-sclerosis
#2
Robert D Henderson, Fleur C Garton, Matthew C Kiernan, Martin R Turner, Andrew Eisen
No abstract text is available yet for this article.
April 17, 2018: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/29658144/bone-fragility-in-turner-syndrome-fracture-prevalence-and-risk-factors-determined-by-a-national-patient-survey
#3
Halley Wasserman, Philippe F Backeljauw, Jane C Khoury, Heidi J Kalkwarf, Catherine M Gordon
OBJECTIVE: Osteoporosis is considered a comorbidity of adult women with Turner Syndrome (TS). Limited data are available on fracture prevalence in girls and women with this diagnosis. We aimed to determine the prevalence of fractures in individuals with TS in the United States and identify risk factors for fracture. DESIGN: Girls and women with TS were invited to participate in an anonymous, self-report, national survey from November 2016 to March 2017. Non-TS controls were obtained through direct contacts of TS participants...
April 15, 2018: Clinical Endocrinology
https://www.readbyqxmd.com/read/29652668/still-too-little-too-late-ten-years-of-growth-hormone-therapy-baseline-data-from-the-nordinet%C3%A2-international-outcome-study
#4
Michel Polak, Daniel Konrad, Birgitte Tønnes Pedersen, Gediminas Puras, Marta Šnajderová
BACKGROUND: We investigated time trends in age, gender, growth hormone (GH) dose and height standard deviation score (SDS) in children with GH deficiency (GHD), born small for gestational age (SGA) or with Turner syndrome (TS) starting GH treatment. METHODS: Data were obtained from children enrolled in the NordiNet® International Outcome Study (IOS) between 2006 and 2015 in the Czech Republic, France, Germany, Serbia and Montenegro (all indications), and Switzerland and the UK (GHD only)...
April 13, 2018: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/29624718/editorial-on-brachial-plexitis-or-neuritis-mri-features-of-lesion-distribution-in-parsonage-turner-syndrome
#5
EDITORIAL
Mark A Ferrante
No abstract text is available yet for this article.
April 6, 2018: Muscle & Nerve
https://www.readbyqxmd.com/read/29622563/noncanonical-matrix-metalloprotease-1-protease-activated-receptor-1-signaling-drives-progression-of-atherosclerosis
#6
Rajashree Rana, Tianfang Huang, Georgios Koukos, Elizabeth K Fletcher, Susan E Turner, Andrew Shearer, Paul A Gurbel, Jeffrey J Rade, Carey D Kimmelstiel, Kevin P Bliden, Lidija Covic, Athan Kuliopulos
OBJECTIVE: Protease-activated receptor-1 (PAR1) is classically activated by thrombin and is critical in controlling the balance of hemostasis and thrombosis. More recently, it has been shown that noncanonical activation of PAR1 by matrix metalloprotease-1 (MMP1) contributes to arterial thrombosis. However, the role of PAR1 in long-term development of atherosclerosis is unknown, regardless of the protease agonist. APPROACH AND RESULTS: We found that plasma MMP1 was significantly correlated ( R =0...
April 5, 2018: Arteriosclerosis, Thrombosis, and Vascular Biology
https://www.readbyqxmd.com/read/29615040/multicentre-cross-sectional-clinical-evaluation-study-about-quality-of-life-in-adults-with-disorders-differences-of-sex-development-dsd-compared-to-country-specific-reference-populations-dsd-life
#7
Marion Rapp, Esther Mueller-Godeffroy, Peter Lee, Robert Roehle, Baudewijntje P C Kreukels, Birgit Köhler, Anna Nordenström, Claire Bouvattier, Ute Thyen
BACKGROUND: Previous studies in quality of life (QOL) in individuals with disorders/differences of sex development (DSD) have been restricted to subpopulations of the condition. We describe QOL in adult persons with DSD compared to country specific references and assess the impact of diagnosis. METHODS: The multicentre cross-sectional clinical evaluation (dsd-LIFE) took place in 14 specialized clinics in six European countries. Adolescents (≥16 years) and adults having a DSD condition were included from 02/2014 to 09/2015...
April 3, 2018: Health and Quality of Life Outcomes
https://www.readbyqxmd.com/read/29609644/assessing-the-effectiveness-of-enhanced-psychological-care-for-patients-with-depressive-symptoms-attending-cardiac-rehabilitation-compared-with-treatment-as-usual-cadence-a-pilot-cluster-randomised-controlled-trial
#8
Suzanne H Richards, Chris Dickens, Rob Anderson, David A Richards, Rod S Taylor, Obioha C Ukoumunne, Katrina M Turner, Manish Gandhi, Willem Kuyken, Andrew Gibson, Antoinette Davey, Fiona Warren, Rachel Winder, John Campbell
BACKGROUND: Around 17% of people attending UK cardiac rehabilitation programmes have depression. Optimising psychological wellbeing is a rehabilitation goal, but provision of psychological care is limited. We developed and piloted an Enhanced Psychological Care (EPC) intervention embedded within cardiac rehabilitation, aiming to test key areas of uncertainty to inform the design of a definitive randomised controlled trial (RCT) and economic evaluation. METHODS: An external pilot randomised controlled trial (RCT) randomised eight cardiac rehabilitation teams (clusters) to either usual care of cardiac rehabilitation provision (UC), or EPC in addition to UC...
April 2, 2018: Trials
https://www.readbyqxmd.com/read/29609449/design-of-the-long-term-observational-cohort-study-with-recombinant-human-growth-hormone-in-korean-children-lg-growth-study
#9
Sochung Chung, Jae-Ho Yoo, Jin Ho Choi, Young-Jun Rhie, Hyun-Wook Chae, Jae Hyun Kim, Il Tae Hwang, Choong Ho Shin, Eun Young Kim, Kee-Hyoung Lee
PURPOSE: Regarding recombinant human growth hormone (rhGH) use in the pediatric population, no long-term follow-up data are available for Korean patients. To fill in the gap of knowledge, a registry study (LG Growth Study) was initiated to assess the safety and effectiveness of four types of rhGH products in real-life settings. METHODS: A total of 4,000 children will be registered and prospectively followed up at 6-month intervals until 2 years after epiphyseal closure to collect data on treatment and adverse events, with primary interest in malignancies and growth outcomes...
March 2018: Annals of Pediatric Endocrinology & Metabolism
https://www.readbyqxmd.com/read/29608076/body-image-and-self-esteem-in-disorders-of-sex-development-a-european-multicenter-study
#10
Tim C van de Grift, Peggy T Cohen-Kettenis, Annelou L C de Vries, Baudewijntje P C Kreukels
OBJECTIVE: Disorders/differences of sex development (DSD) refer to congenital conditions with atypical sex development and are associated with psychosexual issues. The aim of this study was to assess body image and self-esteem across the DSD spectrum and to study the impact of diagnosis and mediating characteristics. METHOD: Data collection was part of dsd-LIFE, a cross-sectional study conducted by 14 European expert clinics on wellbeing and health care evaluation of adults diagnosed with DSD...
April 2018: Health Psychology: Official Journal of the Division of Health Psychology, American Psychological Association
https://www.readbyqxmd.com/read/29607913/eldecalcitol-increases-bone-mass-in-patients-with-turner-syndrome-who-have-insufficient-bone-mass-acquisition-after-estrogen-replacement-therapy
#11
Taku Tsuburai, Tomomi Nakamura, Hiromi Yoshikata, Etsuko Miyagi, Hideya Sakakibara
Most patients with Turner syndrome (TS) exhibit amenorrhea due to premature ovarian failure. Therefore, estrogen replacement therapy (ERT) is required; however, even after undergoing ERT, it is not rare for bone mass acquisition to be insufficient. This study was conducted in two stages, involving a cross-sectional and a prospective interventional study. We recruited 52 TS patients undergoing ERT due to amenorrhea (categorized into low (LB group; n = 23), and normal (NB group; n = 29) bone mass groups) and 7 TS patients who maintained ovarian function (spontaneous menstrual cycle group (MC group)) as controls...
March 31, 2018: Endocrine Journal
https://www.readbyqxmd.com/read/29606626/gender-dysphoria-and-gender-change-in-disorders-of-sex-development-intersex-conditions-results-from-the-dsd-life-study
#12
Baudewijntje P C Kreukels, Birgit Köhler, Anna Nordenström, Robert Roehle, Ute Thyen, Claire Bouvattier, Annelou L C de Vries, Peggy T Cohen-Kettenis
BACKGROUND: Information on the psychosexual outcome of individuals with disorders of sex development (DSDs) and intersex conditions is of great importance for sex assignment at birth of newborns with DSD. AIM: To assess gender change and gender dysphoria in a large sample of individuals with different DSDs. METHODS: A cross-sectional study was conducted in 14 European centers with 1,040 participants (717 female-identifying and 311 male-identifying persons and 12 persons identifying with another gender) with different forms of DSD...
March 29, 2018: Journal of Sexual Medicine
https://www.readbyqxmd.com/read/29590547/ibrutinib-plus-venetoclax-for-the-treatment-of-mantle-cell-lymphoma
#13
COMPARATIVE STUDY
Constantine S Tam, Mary Ann Anderson, Christiane Pott, Rishu Agarwal, Sasanka Handunnetti, Rodney J Hicks, Kate Burbury, Gillian Turner, Juliana Di Iulio, Mathias Bressel, David Westerman, Stephen Lade, Martin Dreyling, Sarah-Jane Dawson, Mark A Dawson, John F Seymour, Andrew W Roberts
BACKGROUND: Both the BTK inhibitor ibrutinib and the BCL2 inhibitor venetoclax are active as monotherapy in the treatment of mantle-cell lymphoma. Complete response rates of 21% have been observed for each agent when administered as long-term continuous therapy. Preclinical models predict synergy in combination. METHODS: We conducted a single-group, phase 2 study of daily oral ibrutinib and venetoclax in patients, as compared with historical controls. Patients commenced ibrutinib monotherapy at a dose of 560 mg per day...
March 29, 2018: New England Journal of Medicine
https://www.readbyqxmd.com/read/29581156/height-outcome-of-the-recombinant-human-growth-hormone-treatment-in-turner-syndrome-a-meta-analysis
#14
Ping Li, Fei Cheng, Lei Xiu
OBJECTIVE: This study sought to determine the effect of the recombinant human growth hormone (rhGH) treatment of Turner syndrome (TS) on height outcome. Methods:We searched in MEDLINE, EMBASE and Cochrane Central Register of Controlled Trials and Cochrane Database of Systematic Reviews. A literature search identified 640 records. After screening and full-text assessment, 11 records were included in the systematic review. Methodological quality was assessed using the Cochrane Risk of Bias tool...
March 26, 2018: Endocrine Connections
https://www.readbyqxmd.com/read/29581155/disorders-of-sex-development-timing-of-diagnosis-and-management-in-a-single-large-tertiary-center
#15
Ella Kohva, Päivi Miettinen, Seppo Taskinen, Matti Hero, Annika Tarkkanen, Taneli Raivio
BACKGROUND: We describe the phenotypic spectrum and timing of diagnosis and management in a large series of patients with disorders of sexual development (DSD) treated in a single pediatric tertiary center. METHODS: DSD patients who had visited our tertiary center during the survey period (between 2004 and 2014) were identified based on an ICD-10 inquiry, and their phenotypic and molecular genetic findings were recorded from patient charts. RESULTS: Among the 550 DSD patients, 53...
March 26, 2018: Endocrine Connections
https://www.readbyqxmd.com/read/29580553/karyotype-classification-clinical-manifestations-and-outcome-in-124-turner-syndrome-patients-in-china
#16
Hua-Hong Wu, Hui Li
OBJECTIVE: To investigate the karyotype, clinical manifestations and natural and therapeutic outcome of Turner syndrome (TS) in China. METHOD: A total of 124 TS patients with definite diagnosis were included. Karyotype, main clinical signs, sexual development and therapeutic outcome were analyzed. RESULTS: TS karyotype was classified in 4 types: monosomy (32.7%), mosaic (15.9%), variant (23.9%) and mosaic with variant (27.4%). All patients showed short stature, with mean adult height<145cm...
March 23, 2018: Annales D'endocrinologie
https://www.readbyqxmd.com/read/29555686/brain-microvascular-endothelial-cells-exhibit-lower-activation-of-the-alternative-complement-pathway-than-glomerular-microvascular-endothelial-cells
#17
Sarah E Sartain, Nancy A Turner, Joel L Moake
Atypical hemolytic uremic syndrome (aHUS) and bone marrow transplantation-associated thrombotic microangiopathy (TA-TMA) are associated with excessive activation of the alternative complement pathway (AP) and with severe renal - and rarely, cerebral - microvascular damage. Here, we compared AP activation and regulation in human glomerular and brain microvascular endothelial cells (GMVECs and BMVECs, respectively) unstimulated or stimulated by the proinflammatory cytokine, tumor necrosis factor (TNF). Compared with GMVECs and under both experimental conditions, BMVECs had increased gene expression of the AP-related genes C3 , CFB , and C5 , and decreased expression of CFD This was associated with increased expression in BMVECs (relative to GMVECs) of the genes for surface and soluble regulatory molecules ( CD46 , THBD , CD55 , CFI , and CFH ) suppressing formation of the AP C3 and C5 convertases...
March 19, 2018: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/29552498/suprapubic-catheter-placement-through-ileal-mesentery-causes-mechanical-small-bowel-obstruction-six-years-later-in-a-female-patient-with-turners-syndrome
#18
Niki Parikh, Robert Grand, Jayne McCauley, Ari Halldorsson, Cynthia Smith
Percutaneous suprapubic cystostomy (SPC) is a procedure performed to manage urinary retention when urethral catheterization is contraindicated or to improve the quality of life in cases such as neurogenic bladder. Although a simple procedure, it is associated with serious complications, increasing the morbidity and mortality. This case study demonstrates a delayed presentation of small bowel obstruction caused by a suprapubic catheter traversing through the ileal mesentery in a patient with no prior bowel surgeries...
March 2018: Urology Case Reports
https://www.readbyqxmd.com/read/29549980/-mathematical-learning-disability-a-multiple-origin-examples-of-turner-and-fragile-x-syndromes
#19
C Deffrennes, M De Clercq, L Vallée, M-P Lemaître
Problems in mathematics are a frequent major complaint in neuropediatric departments, for which there are two explanatory theoretical models: the hypothesis of a genetic and modular origin (with a number sense deficit) and a multidetermined origin. The purpose of this paper is to review the mathematical difficulties described in Turner syndrome and Fragile X syndrome, because a specific mathematical disorder is usually reported in these populations, supporting the existence of a number sense. Analysis of the literature reveals highly variable cognitive phenotypes in these populations, especially regarding mathematical abilities...
March 14, 2018: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/29546464/chromosome-wide-gene-dosage-rebalance-may-benefit-tumor-progression
#20
Honglei Zhang, Xing Yang, Xu Feng, Haibo Xu, Qin Yang, Li Zou, Mei Yan, Dequan Liu, Xiaosan Su, Baowei Jiao
The high-risk of tumor initiation in patients with Turner syndrome (TS) characterized by X chromosome monosomy in women has been well established and aneuploidy, defined as an abnormal number of chromosomes, is a common feature in human cancer. However, the underlying mechanisms of X chromosome aneuploidy promoting tumorigenesis remain obscure. We propose that chromosome-wide gene dosage imbalance (CDI) may serve as an important mechanism. Here, we assess the relative expression ratios of X chromosome and autosomes (expression ratios of X:AA) between tumor samples and adjacent normal samples across 16 tumor types using expression datasets from The Cancer Genome Atlas (TCGA) project...
March 15, 2018: Molecular Genetics and Genomics: MGG
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