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Turner's syndrome

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https://www.readbyqxmd.com/read/28448550/priority-target-conditions-for-algorithms-for-monitoring-children-s-growth-interdisciplinary-consensus
#1
Pauline Scherdel, Rachel Reynaud, Christine Pietrement, Jean-François Salaün, Marc Bellaïche, Michel Arnould, Bertrand Chevallier, Hugues Piloquet, Emmanuel Jobez, Jacques Cheymol, Emmanuelle Bichara, Barbara Heude, Martin Chalumeau
BACKGROUND: Growth monitoring of apparently healthy children aims at early detection of serious conditions through the use of both clinical expertise and algorithms that define abnormal growth. Optimization of growth monitoring requires standardization of the definition of abnormal growth, and the selection of the priority target conditions is a prerequisite of such standardization. OBJECTIVE: To obtain a consensus about the priority target conditions for algorithms monitoring children's growth...
2017: PloS One
https://www.readbyqxmd.com/read/28439773/parsonage-turner-syndrome-due-to-autochthonous-acute-genotype-3f-hepatitis-e-virus-infection-in-a-nonimmunocompromised-55-year-old-patient
#2
A Velay, W Kack-Kack, F Abravanel, S Lhomme, P Leyendecker, L Kremer, P Chamouard, J Izopet, S Fafi-Kremer, H Barth
Hepatitis E virus (HEV) infection is an emerging autochthonous disease in industrialized countries. Extra-hepatic manifestations, in particular neurologic manifestations, have been reported in HEV infection. Only a few cases of hepatitis E-associated Parsonage-Turner syndrome have been reported, and HEV genotypes were rarely determined. Here, we report the case of a Parsonage-Turner syndrome associated with an acute autochthonous HEV infection in a 55-year-old immunocompetent patient. HEV genomic RNA was detected in serum and cerebrospinal fluid samples (CSF), and molecular phylogenetic analysis of HEV was performed...
April 24, 2017: Journal of Neurovirology
https://www.readbyqxmd.com/read/28439053/-calcium-and-bone-metabolism-across-women-s-life-stages-bone-metabolism-of-women-in-primary-amenorrhea
#3
Tsuyoshi Higuchi
For development of the bone during adolescence, the increased estrogen plays an important role especially in young women as well as GH/IGF-Ⅰ system. Although primary amenorrhea can be caused by various pathological factors, almost of cases have a dysfunction of estrogen secretory systems. For Turner syndrome, which is well-known disease with primary amenorrhea,it is generally recommended that the estrogen therapy is started at adolescence and gradually increased up to adult dose level. Recently studies about the adequate dose of estrogen and the adequate age of adult dose in Turner syndrome revealed that intervention with adult dose of estrogen is required as soon as possible for gaining better bone mineral...
2017: Clinical Calcium
https://www.readbyqxmd.com/read/28420278/audiometric-features-in-young-adults-with-turner-syndrome
#4
Åsa Bonnard, Christina Hederstierna, Rusana Bark, Malou Hultcrantz
OBJECTIVE: Hearing loss (HL) is a known problem in adults with Turner syndrome (TS). The aim of this study was to investigate audiometric features in young adults with TS and the extent of hearing aid provision. DESIGN: Patients were recruited from the Turner centre at Karolinska University Hospital. Analysis of audiograms was made in relation to hearing aid use, a Swedish normal hearing cohort and the need for hearing rehabilitation. STUDY SAMPLE: Sixty-four women with TS aged 25-38 years at the time of their audiological testing...
April 19, 2017: International Journal of Audiology
https://www.readbyqxmd.com/read/28417607/rebuttal-adverse-outcome-of-coarctation-stenting-in-patients-with-turner-syndrome
#5
Allard T van den Hoven, Maarten Witsenburg, Jolien W Roos-Hesselink
No abstract text is available yet for this article.
April 18, 2017: Catheterization and Cardiovascular Interventions
https://www.readbyqxmd.com/read/28412999/generation-of-an-induced-pluripotent-stem-cell-line-from-chorionic-villi-of-a-turner-syndrome-spontaneous-abortion
#6
Shagufta Parveen, M M Panicker, Pawan Kumar Gupta
A major cause of spontaneous abortions is chromosomal abnormality of foetal cells. We report the generation of an induced pluripotent stem cell line from the fibroblasts isolated from chorionic villi of an early spontaneously aborted foetus with Turner syndrome. The Turner syndrome villus induced pluripotent stem cell line is transgene free, retains the original XO karyotype, expresses pluripotency markers and undergoes trilineage differentiation. This pluripotent stem cell model of Turner syndrome should serve as a tool to study the developmental abnormalities of foetus and placenta that lead to early embryo lethality and profound symptoms like infertility in 45 XO survivors...
March 2017: Stem Cell Research
https://www.readbyqxmd.com/read/28397183/prepubertal-ultra-low-dose-estrogen-therapy-is-associated-with-healthier-lipid-profile-than-conventional-estrogen-replacement-for-pubertal-induction-in-adolescent-girls-with-turner-syndrome-preliminary-results
#7
Anna Ruszala, Malgorzata Wojcik, Agata Zygmunt-Gorska, Dominika Janus, Joanna Wojtys, Jerzy B Starzyk
PURPOSE: The metabolic effects of prepubertal low-dose estrogen replacement (LE) therapy in Turner syndrome (TS) have not been fully investigated to date. The present study aimed to compare glucose and lipids metabolism in adolescents with TS on LE and conventional estrogen replacement (CE). METHODS: In 14 TS (mean age 13.8), LE (17β-estradiol, 62.5 μg daily) was introduced before age 12 (mean age 10.5), and followed by a pubertal induction regimen after age 12, and in 14 CE was started after age 12 (mean 14, SD 1...
April 10, 2017: Journal of Endocrinological Investigation
https://www.readbyqxmd.com/read/28392504/defects-in-the-first-wave-of-folliculogenesis-in-mouse-xo-ovaries
#8
Kento Miura, Chiharu Murata, Kyoko Harikae, Hitomi Suzuki, Masami Kanai-Azuma, Masamichi Kurohmaru, Naoki Tsunekawa, Yoshiakira Kanai
In mouse ovaries, the first wave of folliculogenesis perinatally starts near the medullary region, which directs the initial round of follicular growth soon after birth. At the same time, cortical primordial follicles start forming in the ovarian surface region, and then some are cyclically recruited for the second and subsequent rounds of follicular growth. Recent studies suggest different dynamics between the first and subsequent waves of follicular growth in postnatal ovaries. However, the phenotypic differences between these phases remain unclear...
April 10, 2017: Journal of Reproduction and Development
https://www.readbyqxmd.com/read/28391887/investigating-the-prevalence-predictors-and-prognosis-of-suboptimal-statin-use-early-after-a-non-st-elevation-acute-coronary-syndrome
#9
Richard M Turner, Peng Yin, Anita Hanson, Richard FitzGerald, Andrew P Morris, Rod H Stables, Andrea L Jorgensen, Munir Pirmohamed
BACKGROUND: High-potency statin therapy is recommended in the secondary prevention of cardiovascular disease but discontinuation, dose reduction, statin switching, and/or nonadherence occur in practice. OBJECTIVES: To determine the prevalence and predictors of deviation from high-potency statin use early after a non-ST elevation acute coronary syndrome (NSTE-ACS) and its association with subsequent major adverse cardiovascular events (MACE) and all-cause mortality (ACM)...
January 2017: Journal of Clinical Lipidology
https://www.readbyqxmd.com/read/28389010/complications-related-to-turner-syndrome
#10
Natalia Bejarano Ramírez, Francisco Javier Redondo Calvo, Enrique Galán Gómez
No abstract text is available yet for this article.
April 4, 2017: Medicina Clínica
https://www.readbyqxmd.com/read/28385908/isolated-brachydactyly-type-e-and-idiopathic-pancreatitis-in-a-patient-presenting-to-a-lipid-disorders-clinic
#11
Michael M Page, Amanda J Hooper, Paul Glendenning, John R Burnett
An 18-year-old female tertiary student was referred to a lipid clinic with hypertriglyceridaemia discovered after presentation with acute pancreatitis. The patient's only medication was l-thyroxine for treatment of hypothyroidism. She was overweight, normotensive, with unremarkable facies. However, she had hypermobile hand joints and brachydactyly resulting in loss of left 3-5 and right 4 and 5 knuckle definitions. Radiography revealed shortening of metacarpals 3-5 on the left and 4 and 5 on the right. Her mother had similar skeletal changes, consistent with a dominant mode of inheritance...
April 6, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28384960/mullerian-agenesis-associated-with-turner-s-syndrome
#12
Padmanabhan Elamparidhi, Rudrappa Ramesh Kumar, Selvakkalanjiyam Sivaranjinie, Rajakumar Sibhithran
Turner's syndrome is a chromosomal disorder with 45 X0 due to absence of a set of gene from the short arm of X chromosome. The incidence of Turner's syndrome is 1 in 2500 live births. Primary amenorrhea is well known in Turner's syndrome, the reason being streak ovaries; but mullerian agenesis as a cause of primary amenorrhea in Turner's syndrome is a very rare entity. The incidence of Turner's syndrome associated with mullerian agenesis is extremely rare as there is only a hand full of cases reported in literature...
February 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28376481/use-of-hormone-replacement-in-females-with-endocrine-disorders
#13
Sophie Christin-Maitre
Hormone replacement therapy (HRT) is necessary in adolescents with primary ovarian insufficiency (POI) in order to avoid estrogen deficiency. The goal of this minirewiew is to present the different types of estrogens (17β-estradiol, estradiol valerate, ethinyl estradiol, and combined equine estrogens) as well as the different types of progestins available. In order to choose among the different types of HRTs, the features of each regimen are being discussed as well as their risks and their respective benefits...
April 4, 2017: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/28371864/a-multicentre-study-of-patients-with-timothy-syndrome
#14
Mark A Walsh, Christian Turner, Katherine W Timothy, Neil Seller, Dominic L Hares, Andrew F James, Jules C Hancox, Orhan Uzun, Dean Boyce, Alan G Stuart, Paul Brennan, Caroline Sarton, Karen McGuire, Ruth A Newbury-Ecob, Karen Mcleod
Aims: Timothy syndrome (TS) is an extremely rare multisystem disorder characterized by marked QT prolongation, syndactyly, seizures, behavioural abnormalities, immunodeficiency, and hypoglycaemia. The aim of this study was to categorize the phenotypes and examine the outcomes of patients with TS. Methods and results: All patients diagnosed with TS in the United Kingdom over a 24-year period were reviewed. Fifteen centres in the British Congenital Arrhythmia Group network were contacted to partake in the study...
March 24, 2017: Europace: European Pacing, Arrhythmias, and Cardiac Electrophysiology
https://www.readbyqxmd.com/read/28370206/adjuvant-psychological-therapy-in-long-term-endocrine-conditions
#15
J Daniels, J M Turner-Cobb
Consideration of psychological distress in long term endocrine conditions is of vital importance given the prevalence of anxiety and depression in such disorders. Poor mental health can lead to compromised self-care, higher utilisation of health services, lower rates of adherence, reduced quality of life and ultimately poorer outcomes. Adjuvant psychological therapy offers an effective resource to reduce distress in endocrinological disorders. While the vast majority of work in this area has focused on psychological screening and intervention in diabetes, identification and recognition of psychological distress is equally important in other endocrinological conditions, with supportive evidence in Polycystic Ovary Syndrome and Addison's disease...
March 30, 2017: Clinical Endocrinology
https://www.readbyqxmd.com/read/28360449/balanced-reciprocal-translocation-t-x-1-in-a-girl-with-tall-stature-and-primary-amenorrhea
#16
Zahra Razavi, Hossein Emad Momtaz
Chromosomal translocations constitute one of the most important, yet uncommon, causes of primary amenorrhea and gonadal dysgenesis. Although X-autosome translocations are frequently associated with streak gonads and clinical features of the Turner syndrome, the majority of X-autosome carriers may present with a variable phenotype, developmental delay, and recognizable X-linked syndrome due to nonrandom X-inactivation. In this article, we describe a healthy 15.5-year-old girl with primary amenorrhea, gonadal dysgenesis, and tall stature without other manifestations of the Turner syndrome...
March 2017: Iranian Journal of Medical Sciences
https://www.readbyqxmd.com/read/28357876/noninvasive-prenatal-screening-for-fetal-common-sex-chromosome-aneuploidies-from-maternal-blood
#17
Bin Zhang, Bei-Yi Lu, Bin Yu, Fang-Xiu Zheng, Qin Zhou, Ying-Ping Chen, Xiao-Qing Zhang
Objective To explore the feasibility of high-throughput massively parallel genomic DNA sequencing technology for the noninvasive prenatal detection of fetal sex chromosome aneuploidies (SCAs). Methods The study enrolled pregnant women who were prepared to undergo noninvasive prenatal testing (NIPT) in the second trimester. Cell-free fetal DNA (cffDNA) was extracted from the mother's peripheral venous blood and a high-throughput sequencing procedure was undertaken. Patients identified as having pregnancies associated with SCAs were offered prenatal fetal chromosomal karyotyping...
January 1, 2017: Journal of International Medical Research
https://www.readbyqxmd.com/read/28357779/a-comprehensive-review-of-pediatric-tumors-and-associated-cancer-predisposition-syndromes
#18
REVIEW
Sarah Scollon, Amanda Knoth Anglin, Martha Thomas, Joyce T Turner, Kami Wolfe Schneider
An understanding of the role of inherited cancer predisposition syndromes in pediatric tumor diagnoses continues to develop as more information is learned through the application of genomic technology. Identifying patients and their relatives at an increased risk for developing cancer is an important step in the care of this patient population. The purpose of this review is to highlight various tumor types that arise in the pediatric population and the cancer predisposition syndromes associated with those tumors...
March 29, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/28349385/risk-of-gonadoblastoma-development-in-patients-with-turner-syndrome-with-cryptic-y-chromosome-material
#19
Ahreum Kwon, Sei Eun Hyun, Mo Kyung Jung, Hyun Wook Chae, Woo Jung Lee, Tae Hyuk Kim, Duk Hee Kim, Ho-Seong Kim
Current guidelines recommend that testing for Y chromosome material should be performed only in patients with Turner syndrome harboring a marker chromosome and exhibiting virilization in order to detect individuals who are at high risk of gonadoblastoma. However, cryptic Y chromosome material is suggested to be a risk factor for gonadoblastoma in patients with Turner syndrome. Here, we aimed to estimate the frequency of cryptic Y chromosome material in patients with Turner syndrome and determine whether Y chromosome material increased the risk for development of gonadoblastoma...
March 27, 2017: Hormones & Cancer
https://www.readbyqxmd.com/read/28343557/infants-born-to-opioid-dependent-women-in-ontario-2002-2014
#20
Susan B Brogly, Suzanne Turner, Katherine Lajkosz, Greg Davies, Adam Newman, Ana Johnson, Kimberly Dow
BACKGROUND: There is a paucity of data characterizing mother-infant pairs with prenatal opioid dependence in Canada. We therefore conducted a study of relevant births in Ontario from 2002 to 2014. METHODS: We used data from the Institute for Clinical Evaluative Sciences, the linked databases of coded population-based Ontario health services records. Differences in characteristics of opioid-dependent mother-neonate pairs and infant hospital costs by year were assessed using linear regression, and we calculated rates of preterm birth, low birth weight, birth defects, mortality, and neonatal abstinence syndrome...
March 2017: Journal of Obstetrics and Gynaecology Canada: JOGC, Journal D'obstétrique et Gynécologie du Canada: JOGC
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