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Turner's syndrome

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https://www.readbyqxmd.com/read/28343557/infants-born-to-opioid-dependent-women-in-ontario-2002-2014
#1
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
https://www.readbyqxmd.com/read/28336768/care-of-girls-and-women-with-turner-syndrome-beyond-growth-and-hormones
#2
Caroline Culen, Diana-Allexandra Ertl, Katharina Schubert, Lisa Bartha-Doering, Gabriele Haeusler
Turner syndrome (TS), although considered a rare disease, is the most common sex chromosome abnormality in women, with an incident of 1 in 2,500 female births. TS is characterized by distinctive physical features such as short stature, ovarian dysgenesis, an increased risk for heart and renal defects as well as a specific cognitive and psychosocial phenotype. Given the complexity of the condition, patients face manifold difficulties which increase over the lifespan. Furthermore, failures during the transitional phase to adult care result in moderate health outcomes and decreased quality of life...
March 23, 2017: Endocrine Connections
https://www.readbyqxmd.com/read/28332872/characterization-of-spontaneous-and-induced-puberty-in-girls-with-turner-syndrome
#3
Lisal J Folsom, James E Slaven, Zeina M Nabhan, Erica A Eugster
OBJECTIVE: To characterize puberty in girls with Turner syndrome, and determine whether specific patient characteristics are associated with the timing of menarche. We also sought to compare spontaneous vs. induced puberty in these patients. DESIGN/PATIENTS/MEASUREMENTS: Medical records of girls followed in our Pediatric Endocrine clinic for Turner syndrome from 2007 to 2015 were reviewed. RESULTS: Fifty-three girls were included, of whom 10 (19%) achieved menarche spontaneously and 43 (81%) received hormone replacement therapy (HRT)...
March 23, 2017: Endocrine Practice
https://www.readbyqxmd.com/read/28331865/growth-hormone-utilization-review-in-a-pediatric-primary-care-setting
#4
Fatemeh Sayarifard, Fereshteh Bakhshi Imcheh, Shirinsadat Badri, Toktam Faghihi, Mostafa Qorbani, Mania Radfar
OBJECTIVE: One of the main problems facing public health providers and administrators in many countries is ensuring the rational use of high-cost drugs. In this regard, on-going process of medication use evaluation can be considered as a useful tool. In this study, we evaluated certain usage aspects of a highly-cost medication, that is, recombinant growth hormone (GH). METHODS: This cross-sectional study conducted from August 2012 to August 2014. Children receiving GH ± gonadotropin releasing hormone (GnRH) analogs were included in the study...
January 2017: Journal of Research in Pharmacy Practice
https://www.readbyqxmd.com/read/28331102/clinical-features-of-women-with-turner-syndrome-experiencing-transition-period-in-japan
#5
Satsuki Nishigaki, Takashi Hamazaki, Akitoshi Tsuruhara, Toshiko Yoshida, Takuji Imamura, Hiroshi Inada, Keinosuke Fujita, Haruo Shintaku
Turner syndrome results from the entire or partial loss of the second X chromosome, and is associated with a number of medical problems. Affected women require long-term medical follow-up. This study investigated the status of medical follow-up focusing on the transition for young adult women with Turner syndrome (TS). The clinical profiles of 63 women with TS over the age of 16 were retrospectively examined. Thirty-three women are continuously followed by pediatric endocrinologists at our pediatric division...
March 22, 2017: Endocrine Journal
https://www.readbyqxmd.com/read/28329488/capecitabine-induced-lichenoid-drug-eruption-a-case-report
#6
Jeff R Gehlhausen, Matthew B Strausburg, Mouhammad Aouthmany, Terrence M Katona, Matthew J Turner
Capecitabine is a 5-fluorouracil basedchemotherapeutic drug widely used in the treatmentof solid tumors, especially colorectal and breast. Someof the most common side effects of capecitabine arecutaneous in nature, including hand-foot syndrome(palmar-plantar erythrodysesthesia). Several reports inthe literature link capecitabine use with photosensitivelichenoid eruptions. Herein, we present a case ofcapecitabine-induced lichenoid eruption in an elderlyfemale with metastatic breast cancer and discuss ourfindings in relationship to previously reported cases ofthis and other capecitabine-induced skin pathologies...
February 15, 2017: Dermatology Online Journal
https://www.readbyqxmd.com/read/28324009/whole-exome-sequencing-for-diagnosis-of-turner-syndrome-towards-next-generation-sequencing-and-newborn-screening
#7
David R Murdock, Frank X Donovan, Settara C Chandrasekharappa, Nicole Banks, Carolyn Bondy, Maximilian Muenke, Paul Kruszka
Context, Objectives: Turner syndrome (TS) is due to a complete or partial loss of an X chromosome in females and is not currently part of newborn screening. Diagnosis is often delayed resulting in missed crucial diagnostic and therapeutic opportunities. This study sought to determine if whole-exome sequencing (WES) as part of a potential newborn screening program could be used to diagnose TS. Design, Setting, Patients: Karyotype, chromosomal microarray, and WES were performed on women with TS (n=27) enrolled in the Personalized Genomic Research study at the National Institutes of Health...
January 24, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28323272/constipation-predominant-irritable-bowel-syndrome-females-have-normal-colonic-barrier-and-secretory-function
#8
Stephanie A Peters, Shoko Edogawa, Wendy J Sundt, Roy B Dyer, Daniel A Dalenberg, Amelia Mazzone, Ravinder J Singh, Natalie Moses, Thomas C Smyrk, Christopher Weber, David R Linden, Wallace K MacNaughton, Jerrold R Turner, Michael Camilleri, David A Katzka, Gianrico Farrugia, Madhusudan Grover
OBJECTIVES: The objective of this study was to determine whether constipation-predominant irritable bowel syndrome (IBS-C) is associated with changes in intestinal barrier and secretory function. METHODS: A total of 19 IBS-C patients and 18 healthy volunteers (all females) underwent saccharide excretion assay (0.1 g (13)C mannitol and 1 g lactulose), measurements of duodenal and colonic mucosal barrier (transmucosal resistance (TMR), macromolecular and Escherichia coli Bio-Particle translocation), mucosal secretion (basal and acetylcholine (Ach)-evoked short-circuit current (Isc)), in vivo duodenal mucosal impedance, circulating endotoxins, and colonic tight junction gene expression...
March 21, 2017: American Journal of Gastroenterology
https://www.readbyqxmd.com/read/28306537/clinical-features-of-girls-with-short-stature-among-inv-9-turner-45-x-and-control-individuals
#9
Xuefeng Chen, Xiumin Wang, Guanping Dong, Junfen Fu, Wei Wu, Youjun Jiang
BACKGROUND: The clinical significance of pericentric inversion of chromosome 9 [inv (9)] remains unclear. METHODS: This case control study assessed girls with short stature. According to karyotypes, the subjects were divided into inv (9) [46,XX,inv (9)(p12q13) and 46,XX,inv (9)(p11q13)], Turner syndrome (45, X) and control (normal 46, XX) groups, respectively. Detailed clinical features were compared. RESULTS: Height standard deviation score (SDS) values at diagnosis were -2...
March 17, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28296370/-use-of-recombinant-human-growth-hormone-rhgh
#10
Raúl Calzada-León
Recombinant human growth hormone, synthesized in E.coli or mammalian cells cultures, is since 1985, a useful therapeutic resource to increase growth velocity and final height. In this paper are discussed the four phases (aims, security and efficacy, utility and efficiency) indispensables to define the start of treatment, as well as the absolute, relative and metabolic indications and the transitory and permanent conditions that contraindicate its use. It is commented the way to optimize the results (simple but indispensables indications for the physician, the patients and their family)...
March 2017: Revista Médica del Instituto Mexicano del Seguro Social
https://www.readbyqxmd.com/read/28284085/detection-of-turner-syndrome-using-x-chromosome-inactivation-specific-differentially-methylated-cpg-sites-a-pilot-study
#11
Qiang Zhang, Xiaohong Guo, Tian Tian, Teng Wang, Qiaoli Li, Lei Wang, Yun Liu, Qinghe Xing, Lin He, Xinzhi Zhao
BACKGROUND: Early diagnosis of Turner syndrome (TS) may improve preventive measures and treatment. X-chromosome inactivation specific differentially methylated CpG sites (XIDMSs) that are high methylated in inactive X chromosomes (Xi) and unmethylated in active X chromosomes (Xa) may be potential makers for TS detection. METHODS: The candidate XIDMSs were screened from 9 male and 12 female DNA samples with normal karyotypes using the Illumina 450k array and validated by bisulfite sequencing PCR and pyrosequencing assay...
March 8, 2017: Clinica Chimica Acta; International Journal of Clinical Chemistry
https://www.readbyqxmd.com/read/28275532/surgical-correction-of-the-webbed-neck-an-alternative-lateral-approach
#12
Imen Mehri Turki
Objective: The webbed neck deformity or pterygium colli is the number one symptom of the Turner syndrome that leads the patient to consult a doctor. Various but rare surgical approaches have been described to correct this deformity. We reviewed our experience with the surgical correction of the pterygium colli. Methods: Through five clinical cases, we describe the surgical technique with a lateral approach which provides a better control of the operative site, allows for the excision of the underlying trapezial fascial web, thus preventing recurrence seen in the posterior approach, and restores a normal hairline...
2017: GMS Interdisciplinary Plastic and Reconstructive Surgery DGPW
https://www.readbyqxmd.com/read/28270874/relationship-between-obesity-and-liver-enzymes-levels-in-turner-s-syndrome
#13
Farzaneh Rohani, Fatemeh Golgiri, Mohammad Reza Alaei, Mojgan Karimi, Parham Nikraftar, Ramin Bozorgmehr
BACKGROUND: Liver enzyme abnormalities have been reported in Turner's syndrome (TS). There are some studies about possible causes of abnormal levels of liver enzymes. One of the main suggestions is obesity. The study aimed to determine the relationship between obesity and liver enzymes levels in patients with TS. METHODS: Forty-one karyotype-proven TS patients referred to Endocrinology and Metabolism Research Center were included in this cross-sectional study. Height and weight of patients were measured and their body mass index (BMI) was calculated...
February 2017: Gastroenterology Research
https://www.readbyqxmd.com/read/28270572/creb-signaling-is-involved-in-rett-syndrome-pathogenesis
#14
Qian Bu, Anxin Wang, Hamdi Hamzah, Alex Waldman, Keer Jiang, Qiping Dong, Ronghui Li, Jason Kim, Daniel Turner, Qiang Chang
Rett syndrome (RTT) is a debilitating neurodevelopmental disorder caused by mutations in the MECP2 gene. To facilitate the study of cellular mechanisms in human cells, we established several human stem cell lines: human embryonic stem cell (hESC) line carrying the common T158M mutation (MECP2(T158M/T158M) ), hESC line expressing no MECP2 (MECP2-KO), congenic pair of wild type and mutant RTT patient-specific induced pluripotent stem cell (iPSC) line carrying the V247fs mutation (V247fs-WT and V247fs-MT), and iPSC line in which the V247fs mutation was corrected by CRISPR/Cas9-based genome editing (V247fs-MT-correction)...
March 7, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/28266736/cardiac-ct-angiography-in-the-emergency-room-apical-hypertrophic-cardiomyopathy-presenting-as-acute-coronary-syndrome
#15
Michael C Turner, Edmund K Kerut, James Mckinnie, Michael Davis, Christine Hinton
A 59-year-old male presented to the emergency room with symptoms of chest tightness and palpitations. Following conversion of atrial fibrillation to sinus rhythm, he had deep symmetrical T-wave changes on his electrocardiogram. Symptoms resolved almost immediately, and his initial troponin was negative. He underwent cardiac CT angiography utilizing an emergency room triage protocol which resulted in a diagnosis of nonobstructive coronary artery disease and apical hypertrophic cardiomyopathy. Following a hospital stay of less than 24 hours, he was discharged to outpatient follow-up on medical management and has remained asymptomatic over 6 months...
March 7, 2017: Echocardiography
https://www.readbyqxmd.com/read/28261575/transition-of-women-with-turner-syndrome-from-pediatrics-to-adult-health-care-current-situation-and-associated-problems
#16
Hideya Sakakibara
No abstract text is available yet for this article.
2017: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/28260712/a-case-of-turner-syndrome-46xxp-45x-complicated-with-crohn-s-disease-after-hormone-therapy
#17
Yutaro Ihara, Kazuoki Hizawa, Kouhei Fujita, Masahiro Iida, Ema Washio, Takahiro Kai, Tomoki Nitahata, Motohiro Esaki, Mitsuo Iida
A 19-year-old woman, who had been receiving hormone replacement therapy for 13 months before the diagnosis of mosaic Turner syndrome (46XXp-/45X), developed Crohn's colitis and erythema nodosum of the lower legs. Colonoscopy revealed an anal fistula and the presence of deep longitudinal ulcers with cobblestoning in the colorectum. Therapy with prednisolone and adalimumab was effective for the intestinal and skin lesions. To date, all seven case reports of Turner syndrome in Japan have also developed Crohn's disease after hormone therapy, suggesting a possible association of sex hormones in the pathogenesis...
2017: Nihon Shokakibyo Gakkai Zasshi, the Japanese Journal of Gastro-enterology
https://www.readbyqxmd.com/read/28249771/effects-of-the-copy-number-of-ribosomal-genes-genes-for-rrna-on-viability-of-subjects-with-chromosomal-abnormalities
#18
N A Lyapunova, L N Porokhovnik, N V Kosyakova, I A Mandron, T G Tsvetkova
The number of active ribosomal genes (AcRG) was evaluated in 172 carriers of chromosomal abnormalities (CA) such as Down's syndrome (DS), Robertsonian translocations (RT), Klinefelter's and Turner's syndromes, trisomy Х, disomy Y, and various structural CA. In controls (n=318), AcRG dosage varied from 119 to 190 copies with a mean of 151 copies per diploid genome. In CA carriers, except for DS newborns, AcRG dosage was not beyond these limits. As shown previously, only within these limits cellular homeostasis and organism's viability can be supported, while genomes beyond these limits are eliminated by embryonic loss...
February 26, 2017: Gene
https://www.readbyqxmd.com/read/28248916/light-induced-hemiplegia-an-atypical-case-of-retinal-steal-syndrome
#19
David Kerek, Sami Al Kasab, Michael U Antonucci, Raymond D Turner, Tanya N Turan
Atherosclerosis affecting the carotid arteries accounts for up to 20% of ischemic strokes 1. The clinical effects of atherosclerotic occlusive disease vary according to multiple factors, one of which is collateral circulation. In response to a chronic decrease in cerebral perfusion from atherosclerotic occlusion, alternative flow pathways, or collaterals, develop in a variety of patterns. In the setting of carotid occlusion, flow from the Circle of Willis, if complete, often comprises the main cerebral collateral network...
March 2017: Neurologist
https://www.readbyqxmd.com/read/28248154/collaborative-care-and-active-surveillance-for-screen-positive-elders-with-subthreshold-depression-casper-a-multicentred-randomised-controlled-trial-of-clinical-effectiveness-and-cost-effectiveness
#20
Helen Lewis, Joy Adamson, Katie Atherton, Della Bailey, Jacqueline Birtwistle, Katharine Bosanquet, Emily Clare, Jaime Delgadillo, David Ekers, Deborah Foster, Rhian Gabe, Samantha Gascoyne, Lesley Haley, Rebecca Hargate, Catherine Hewitt, John Holmes, Ada Keding, Amanda Lilley-Kelly, Jahnese Maya, Dean McMillan, Shaista Meer, Jodi Meredith, Natasha Mitchell, Sarah Nutbrown, Karen Overend, Madeline Pasterfield, David Richards, Karen Spilsbury, David Torgerson, Gemma Traviss-Turner, Dominic Trépel, Rebecca Woodhouse, Friederike Ziegler, Simon Gilbody
BACKGROUND: Efforts to reduce the burden of illness and personal suffering associated with depression in older adults have focused on those with more severe depressive syndromes. Less attention has been paid to those with mild disorders/subthreshold depression, but these patients also suffer significant impairments in their quality of life and level of functioning. There is currently no clear evidence-based guidance regarding treatment for this patient group. OBJECTIVES: To establish the clinical effectiveness and cost-effectiveness of a low-intensity intervention of collaborative care for primary care older adults who screened positive for subthreshold depression...
February 2017: Health Technology Assessment: HTA
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