keyword
MENU ▼
Read by QxMD icon Read
search

Turner syndrom

keyword
https://www.readbyqxmd.com/read/28725213/can-brain-natriuretic-peptides-and-osteoprotegerin-serve-as-biochemical-markers-for-the-detection-of-aortic-pathology-in-children-and-adolescents-with-turner-syndrome
#1
REVIEW
Meenal Mavinkurve, Clodagh S O'Gorman
Turner syndrome (TS) is a chromosomal disorder that affects 1:2,000 females. It results from either the complete or partial loss of the X chromosome as well as other aberrations. Clinical features of TS include short stature, delayed puberty, and congenital cardiac malformations. TS children also have an increased prevalence of cardiometabolic risk factors, which predisposes them to complications like coronary artery disease, cerebrovascular-related deaths, and aortic dissection. Early cardiac imaging, such as echocardiography and cardiac magnetic resonance imaging, are recommended to detect underlying aortic pathology...
2017: Frontiers in Endocrinology
https://www.readbyqxmd.com/read/28719764/surgical-anatomy-does-not-affect-the-progression-of-intestinal-failure-associated-liver-disease-in-neonatal-piglets
#2
Celeste M Lavallee, Pamela R Wizzard, Marihan Lansing, Donna F Vine, Patrick N Nation, Jason Y Yap, Benjamin P Willing, Paul W Wales, Justine M Turner
BACKGROUND: Intestinal failure-associated liver disease (IFALD) causes significant morbidity in neonates with short bowel syndrome (SBS) dependent on parenteral nutrition (PN). Resected ileum, with loss of the ileocecal valve (ICV), is the most common anatomy in SBS, yet its impact on IFALD has not been adequately studied. METHODS: Neonatal piglets were randomized to 75% intestinal resection with jejunocolic anastomosis (JC, n = 12), 75% resection with jejunoileal anastomosis and intact ICV (JI, n = 13), PN-fed sham (sham, n = 14), or sow-fed control (SF, n = 8)...
July 1, 2017: JPEN. Journal of Parenteral and Enteral Nutrition
https://www.readbyqxmd.com/read/28706617/rare-presentation-of-neurofibromatosis-and-turner-syndrome-in-a-pediatric-patient
#3
Natalie Gengel, Ian Marshall
Neurofibromatosis type 1 (NF1) is classically defined by the presence of multiple café-au-lait macules as one of the diagnostic criteria. Turner syndrome (TS) can also present with café-au-lait macules along with short stature. Our patient is the fifth reported with both NF1 and TS and the first who has been on growth hormone for short stature associated with TS.
June 26, 2017: Pediatric Reports
https://www.readbyqxmd.com/read/28705803/clinical-practice-guidelines-for-the-care-of-girls-and-women-with-turner-syndrome-proceedings-from-the-2016-cincinnati-international-turner-syndrome-meeting
#4
Claus H Gravholt, Niels H Andersen, Gerard S Conway, Olaf M Dekkers, Mitchell E Geffner, Karen O Klein, Angela E Lin, Nelly Mauras, Charmian A Quigley, Karen Rubin, David E Sandberg, Theo C J Sas, Michael Silberbach, Viveca Söderström-Anttila, Kirstine Stochholm, Janielle A van Alfen-van derVelden, Joachim Woelfle, Philippe F Backeljauw
Turner syndrome affects 25-50 per 100,000 females and can involve multiple organs through all stages of life, necessitating multidisciplinary approach to care. Previous guidelines have highlighted this, but numerous important advances have been noted recently. These advances cover all specialty fields involved in the care of girls and women with TS. This paper is based on an international effort that started with exploratory meetings in 2014 in both Europe and the USA, and culminated with a Consensus Meeting held in Cincinnati, Ohio, USA in July 2016...
September 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/28705802/new-international-turner-syndrome-guideline-a-multi-society-feat
#5
EDITORIAL
Claus H Gravholt, Philippe Backeljauw
No abstract text is available yet for this article.
September 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/28693121/impact-of-discontinuation-of-growth-hormone-treatment-on-lipids-and-weight-status-in-adolescents
#6
Juliane Rothermel, Nina Lass, Christina Bosse, Thomas Reinehr
BACKGROUND: While the main role of growth hormone (GH) replacement therapy in children is to promote linear growth, GH has also an effect on lipids and body composition. There is an ongoing discussion whether discontinuation of GH treatment is associated with deterioration of lipids. METHODS: We analyzed weight status [as body mass index-standard deviation score (BMI-SDS)], insulin like growth factor (IGF)-1, triglycerides, total, low-density liporptoein (LDL)- and high-density lipoprotein (HDL)-cholesterol at the end of GH treatment and in mean 6 months later in 90 adolescents (53 with GH deficiency, 16 with Turner syndrome [TS] and 21 born small-for-gestational age [SGA])...
June 24, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28688566/dysphagia-in-healthy-children-characteristics-and-management-of-a-consecutive-cohort-at-a-tertiary-centre
#7
Orysya Svystun, Wendy Johannsen, Rabin Persad, Justine M Turner, Carina Majaesic, Hamdy El-Hakim
OBJECTIVE: Whereas the literature is replete with reports on complex children with dysphagia (DP), the parameters characterizing non-neurologically impaired (NNI) children have been underreported, leaving a substantial knowledge gap. We set to characterize a consecutive cohort of NNI children, their management, and outcomes. METHODS: We undertook a retrospective case series. Children (<18 years old) attending a tertiary multidisciplinary swallowing clinic were eligible...
August 2017: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/28686853/wdr26-haploinsufficiency-causes-a-recognizable-syndrome-of-intellectual-disability-seizures-abnormal-gait-and-distinctive-facial-features
#8
Cara M Skraban, Constance F Wells, Preetha Markose, Megan T Cho, Addie I Nesbitt, P Y Billie Au, Amber Begtrup, John A Bernat, Lynne M Bird, Kajia Cao, Arjan P M de Brouwer, Elizabeth H Denenberg, Ganka Douglas, Kristin M Gibson, Katheryn Grand, Alice Goldenberg, A Micheil Innes, Jane Juusola, Marlies Kempers, Esther Kinning, David M Markie, Martina M Owens, Katelyn Payne, Richard Person, Rolph Pfundt, Amber Stocco, Claire L S Turner, Nienke E Verbeek, Laurence E Walsh, Taylor C Warner, Patricia G Wheeler, Dagmar Wieczorek, Alisha B Wilkens, Evelien Zonneveld-Huijssoon, Tjitske Kleefstra, Stephen P Robertson, Avni Santani, Koen L I van Gassen, Matthew A Deardorff
We report 15 individuals with de novo pathogenic variants in WDR26. Eleven of the individuals carry loss-of-function mutations, and four harbor missense substitutions. These 15 individuals comprise ten females and five males, and all have intellectual disability with delayed speech, a history of febrile and/or non-febrile seizures, and a wide-based, spastic, and/or stiff-legged gait. These subjects share a set of common facial features that include a prominent maxilla and upper lip that readily reveal the upper gingiva, widely spaced teeth, and a broad nasal tip...
July 6, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28682865/overall-evaluation-of-the-clinical-value-of-prenatal-screening-for-fetal-free-dna-in-maternal-blood
#9
Bin Yu, Bei-Yi Lu, Bin Zhang, Xiao-Qing Zhang, Ying-Ping Chen, Qin Zhou, Jian Jiang, Hui-Yan Wang
OBJECTIVE: To explore the clinical value of prenatal screening for fetal-free DNA in maternal blood. METHODS: A total of 10,275 maternal blood samples were collected from October 2012 to May 2016 at the prenatal diagnosis center of Changzhou Woman and Children Health Hospital. RESULTS: Among 10,275 pregnant women accepted noninvasive prenatal testing (NIPT), 9 cases could not get the results after collected the blood second times. The rate of NIPT failure was 0...
July 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28680878/at-term-xmo-and-xpo-mouse-placentas-show-differences-in-glucose-metabolism-in-the-trophectoderm-derived-outer-zone
#10
Nannan He, Shujing J Lim, Joana C Moreira de Mello, Injerreau Navarro, Monika Bialecka, Daniela C F Salvatori, Lucette A J van der Westerlaken, Lygia V Pereira, Susana M Chuva de Sousa Lopes
Genetic mouse model (39,XO) for human Turner Syndrome (45,XO) harboring either a single maternally inherited (Xm) or paternally inherited (Xp) chromosome show a pronounced difference in survival rate at term. However, a detailed comparison of XmO and XpO placentas to explain this difference is lacking. We aimed to investigate the morphological and molecular differences between XmO and XpO term mouse placentas. We observed that XpO placentas at term contained a significantly larger area of glycogen cells (GCs) in their outer zone, compared to XmO, XX, and XY placentas...
2017: Frontiers in Cell and Developmental Biology
https://www.readbyqxmd.com/read/28678425/semi-automated-scoring-of-triple-probe-fish-in-human-sperm-using-confocal-microscopy
#11
Francesca Branch, GiaLinh Nguyen, Nicholas Porter, Heather A Young, Sheena E Martenies, Nathan McCray, Glen Deloid, Anastas Popratiloff, Melissa J Perry
Structural and numerical sperm chromosomal aberrations result from abnormal meiosis and are directly linked to infertility. Any live births that arise from aneuploid conceptuses can result in syndromes such as Kleinfelter, Turners, XYY and Edwards. Multi-probe fluorescence in situ hybridization (FISH) is commonly used to study sperm aneuploidy, however manual FISH scoring in sperm samples is labor-intensive and introduces errors. Automated scoring methods are continuously evolving. One challenging aspect for optimizing automated sperm FISH scoring has been the overlap in excitation and emission of the fluorescent probes used to enumerate the chromosomes of interest...
July 5, 2017: Cytometry. Part A: the Journal of the International Society for Analytical Cytology
https://www.readbyqxmd.com/read/28672749/impact-of-discontinuation-of-growth-hormone-treatment-on-lipids-and-weight-status-in-adolescents
#12
Juliane Rothermel, Nina Lass, Christina Bosse, Thomas Reinehr
BACKGROUND: While the main role of growth hormone (GH) replacement therapy in children is to promote linear growth, GH has also an effect on lipids and body composition. There is an ongoing discussion whether discontinuation of GH treatment is associated with deterioration of lipids. METHODS: We analyzed weight status [as body mass index-standard deviation score (BMI-SDS)], insulin like growth factor (IGF)-1, triglycerides, total, low-density liporptoein (LDL)- and high-density lipoprotein (HDL)-cholesterol at the end of GH treatment and in mean 6 months later in 90 adolescents (53 with GH deficiency, 16 with Turner syndrome [TS] and 21 born small-for-gestational age [SGA])...
July 26, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28668339/-ten-years-experience-with-the-first-approved-biosimilar-recombinant-human-growth-hormone-drug-in-normal-clinical-practice
#13
Juan Pedro López-Siguero, Margarida Palla García, Elena Martínez Busto, Francisco José Rebollo, Manuel Pombo
INTRODUCTION: Recombinant human growth hormone (rhGH) is the first biosimilar drug approved by the European Medicines Agency in 2006, using the biosimilar registration process. It was authorised for the treatment of growth hormone deficiency, and growth disorders associated with Turner's syndrome, chronic renal failure, Prader-Willi syndrome, and growth disorders in children/adolescents born small for gestational age, and replacement therapy in adults with pronounced growth hormone deficiency...
June 28, 2017: Anales de Pediatría: Publicación Oficial de la Asociación Española de Pediatría (A.E.P.)
https://www.readbyqxmd.com/read/28668215/-social-cognition-in-children-with-neurogenetic-syndromes-a-literature-review
#14
A Morel, C Demily
Social cognitive impairments may largely contribute to reduced social skills and adaptive problems in individuals with microdeletion syndromes associated with behavioral and psychiatric phenotypes. Understanding the role of social information processing deficits in the emergence of psychotic disorders is a crucial challenge in the management of these patients. Each neurogenetic disorder is characterized by a specific social cognition phenotype. Clarifying the social ability profile of each population may help adjust patient care according to their key strengths and weaknesses...
June 28, 2017: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/28665875/neuralgic-amyotrophy-attributed-incorrectly-to-block-related-injury-understanding-errors-in-clinical-reasoning
#15
Joseph M Neal, Susan S Porter, Barry P Wilson
OBJECTIVE: We report a case of misdiagnosed neuralgic amyotrophy (brachial plexus neuritis, Parsonage-Turner syndrome). Our primary objective is to review the scientific basis for errors in clinical reasoning. CASE REPORT: We herein report a patient in whom signs and symptoms compatible with neuralgic amyotrophy presented after shoulder surgery. The patient's brachial plexopathy was attributed incorrectly as a complication of interscalene brachial plexus block. The true diagnosis was made only after the patient developed neuralgic amyotrophy in the contralateral upper extremity after a subsequent shoulder surgery on that side, this time without a brachial plexus block...
June 29, 2017: Regional Anesthesia and Pain Medicine
https://www.readbyqxmd.com/read/28664923/genetics-new-insights-into-turner-syndrome
#16
Alan Morris
No abstract text is available yet for this article.
August 2017: Nature Reviews. Endocrinology
https://www.readbyqxmd.com/read/28655407/turner-syndrome-as-a-cause-of-liver-cirrhosis
#17
Salvador Machlab, Mireia Miquel, Tania Voltà, Maria Rosa Escoda, Mercedes Vergara
No abstract text is available yet for this article.
June 24, 2017: Gastroenterología y Hepatología
https://www.readbyqxmd.com/read/28647950/turner-syndrome-care-of-the-patient-birth-to-late-adolescence
#18
Denise Gruccio Paolucci, Vaneeta Bamba
Turner syndrome (TS) is a genetic condition occurring in females resulting from the loss of part or all of one of the X chromosomes. The two hallmark features of Turner syndrome include short stature and primary ovarian insufficiency. In addition, Turner syndrome can involve multiple healthcare issues including cardiac and renal anomalies, autoimmune disorders, hearing loss, ophthalmologic issues, bone anomalies, dermatologic issues and psychosocial and educational concerns. The presenting signs of Turner syndrome can vary markedly, leading to delayed or even missed diagnosis...
June 2017: Pediatric Endocrinology Reviews: PER
https://www.readbyqxmd.com/read/28641912/a-2-year-holistic-health-and-stress-intervention-results-of-an-rct-in-clergy
#19
Rae Jean Proeschold-Bell, Elizabeth L Turner, Gary G Bennett, Jia Yao, Xiang-Fang Li, David E Eagle, Rachel A Meyer, Redford B Williams, Robin Y Swift, H Edgar Moore, Melanie A Kolkin, Carl C Weisner, Katherine M Rugani, Holly J Hough, Virginia P Williams, David C Toole
INTRODUCTION: This study sought to determine the effect of a 2-year, multicomponent health intervention (Spirited Life) targeting metabolic syndrome and stress simultaneously. DESIGN: An RCT using a three-cohort multiple baseline design was conducted in 2010-2014. SETTING/PARTICIPANTS: Participants were United Methodist clergy in North Carolina, U.S., in 2010, invited based on occupational status. Of invited 1,745 clergy, 1,114 consented, provided baseline data, and were randomly assigned to immediate intervention (n=395), 1-year waitlist (n=283), or 2-year waitlist (n=436) cohorts for a 48-month trial duration...
June 13, 2017: American Journal of Preventive Medicine
https://www.readbyqxmd.com/read/28640813/identification-of-a-sj%C3%A3-gren-s-syndrome-susceptibility-locus-at-oas1-that-influences-isoform-switching-protein-expression-and-responsiveness-to-type-i-interferons
#20
He Li, Tove Ragna Reksten, John A Ice, Jennifer A Kelly, Indra Adrianto, Astrid Rasmussen, Shaofeng Wang, Bo He, Kiely M Grundahl, Stuart B Glenn, Corinne Miceli-Richard, Simon Bowman, Sue Lester, Per Eriksson, Maija-Leena Eloranta, Johan G Brun, Lasse G Gøransson, Erna Harboe, Joel M Guthridge, Kenneth M Kaufman, Marika Kvarnström, Deborah S Cunninghame Graham, Ketan Patel, Adam J Adler, A Darise Farris, Michael T Brennan, James Chodosh, Rajaram Gopalakrishnan, Michael H Weisman, Swamy Venuturupalli, Daniel J Wallace, Kimberly S Hefner, Glen D Houston, Andrew J W Huang, Pamela J Hughes, David M Lewis, Lida Radfar, Evan S Vista, Contessa E Edgar, Michael D Rohrer, Donald U Stone, Timothy J Vyse, John B Harley, Patrick M Gaffney, Judith A James, Sean Turner, Ilias Alevizos, Juan-Manuel Anaya, Nelson L Rhodus, Barbara M Segal, Courtney G Montgomery, R Hal Scofield, Susan Kovats, Xavier Mariette, Lars Rönnblom, Torsten Witte, Maureen Rischmueller, Marie Wahren-Herlenius, Roald Omdal, Roland Jonsson, Wan-Fai Ng, Gunnel Nordmark, Christopher J Lessard, Kathy L Sivils
Sjögren's syndrome (SS) is a common, autoimmune exocrinopathy distinguished by keratoconjunctivitis sicca and xerostomia. Patients frequently develop serious complications including lymphoma, pulmonary dysfunction, neuropathy, vasculitis, and debilitating fatigue. Dysregulation of type I interferon (IFN) pathway is a prominent feature of SS and is correlated with increased autoantibody titers and disease severity. To identify genetic determinants of IFN pathway dysregulation in SS, we performed cis-expression quantitative trait locus (eQTL) analyses focusing on differentially expressed type I IFN-inducible transcripts identified through a transcriptome profiling study...
June 2017: PLoS Genetics
keyword
keyword
57065
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"