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Turner's syndrome

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https://www.readbyqxmd.com/read/28647950/turner-syndrome-care-of-the-patient-birth-to-late-adolescence
#1
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
#2
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
#3
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 22, 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28630649/a-complete-duplication-of-x-chromosome-resulting-in-a-tricentric-isochromosome-originated-by-centromere-repositioning
#4
N Villa, D Conconi, D Gambel Benussi, G Tornese, F Crosti, E Sala, L Dalprà, V Pecile
BACKGROUND: Neocentromeres are rare and considered chromosomal aberrations, because a non-centromeric region evolves in an active centromere by mutation. The literature reported several structural anomalies of X chromosome and they influence the female reproductive capacity or are associated to Turner syndrome in the presence of monosomy X cell line. CASE PRESENTATION: We report a case of chromosome X complex rearrangement found in a prenatal diagnosis. The fetal karyotype showed a mosaicism with a 45,X cell line and a 46 chromosomes second line with a big marker, instead of a sex chromosome...
2017: Molecular Cytogenetics
https://www.readbyqxmd.com/read/28627089/analysis-of-ptpn22-zfat-and-myo9b-polymorphisms-in-turner-syndrome-and-risk-of-autoimmune-disease
#5
E Villanueva-Ortega, B Ahedo, M A Fonseca-Sánchez, J Pérez-Durán, N Garibay-Nieto, M T Macías-Galavíz, Y Trujillo-Cabrera, E García-Latorre, G Queipo
Turner syndrome (TS) is one of the most common sexual chromosome abnormalities and is clearly associated with an increased risk of autoimmune diseases, particularly thyroid disease and coeliac disease (CD). Single-nucleotide polymorphism analyses have been shown to provide correlative evidence that specific genes are associated with autoimmune disease. Our aim was to study the functional polymorphic variants of PTPN22 and ZFAT in relation to thyroid disease and those of MYO9B in relation to CD. A cross-sectional comparative analysis was performed on Mexican mestizo patients with TS and age-matched healthy females...
June 18, 2017: International Journal of Immunogenetics
https://www.readbyqxmd.com/read/28618411/prevalence-and-physical-distribution-of-sry-in-the-gonads-of-a-woman-with-turner-syndrome-phenotypic-presentation-tubal-formation-and-malignancy-risk
#6
Tamar G Baer, Christopher E Freeman, Claudia Cujar, Mahesh Mansukhani, Bahadur Singh, Xiaowei Chen, Rosanna Abellar, Sharon E Oberfield, Brynn Levy
Although monosomy X is the most common karyotype in patients with Turner syndrome, the presence of Y chromosome material has been observed in about 10% of patients. Y chromosome material in patients with Turner syndrome poses an increased risk of gonadoblastoma and malignant transformation. We report a woman with a diagnosis of Turner syndrome at 12 years of age, without signs of virilization, and karyotype reported as 46,X,del(X)(q13). At 26 years, cytogenetic studies indicated the patient to be mosaic for monosomy X and a cell line that contained a du-plicated Yq chromosome...
June 15, 2017: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/28617979/the-turner-syndrome-life-course-project-karyotype-phenotype-analyses-across-the-lifespan
#7
Antoinette Cameron-Pimblett, Clementina La Rosa, Thomas F J King, Melanie C Davies, Gerard S Conway
INTRODUCTION: Turner Syndrome is associated with a variety of morbidities affecting nearly every body system, some of which increase in prevalence in adult life. The severity of clinical features in TS is roughly in parallel with the magnitude of the deficit of X chromosome material. The aim of this study was to extend the established karyotype phenotype relationships using data from a large adult cohort. MATERIALS & METHODS: Karyotypes were available in 656 (78...
June 15, 2017: Clinical Endocrinology
https://www.readbyqxmd.com/read/28613046/anti-mullerian-hormone-amh-determinations-in-the-pediatric-and-adolescent-endocrine-practice
#8
Amir Weintraub, Talia Eldar-Geva
Anti-Mullerian hormone (AMH), secreted by immature testicular Sertoli-cells, triggers the regression of male fetal Mullerian ducts. During puberty, AMH is downregulated by intratesticular testosterone. In females, AMH is secreted from granulosa cells of immature ovarian follicles from late prenatal life until menopause; serum concentration is 5-20 times lower in females than in males through lifetime. In boys, AMH determination is useful in the clinical setting as a marker of Sertoli cell function. Serum AMH is low in infants with hypogonadotrophic hypogonadism (and increases with FSH treatment), in patients with primary hypogonadism from early postnatal life and in Klinefelter syndrome from midpuberty...
June 2017: Pediatric Endocrinology Reviews: PER
https://www.readbyqxmd.com/read/28609392/the-role-of-hormone-therapy-in-the-management-of-severe-postpartum-depression-in-patients-with-turner-syndrome
#9
Alison K Shea, Wendy Wolfman
OBJECTIVE: Premature ovarian failure associated with Turner syndrome presents clinicians with a vast range of health concerns, including infertility, cardiovascular disease, and decreased bone mineral density, in addition to psychological sequelae. Hormone therapy is paramount in managing these complications, but the additional needs in the postpartum period for those who are able to carry out a successful pregnancy have not been described. METHODS: We present a case of severe postpartum depression (PPD) with psychotic features in a patient with Turner syndrome, which presented at 4 weeks after the birth of her first child via egg donation RESULTS:: We describe the case of a previously well 32-year-old patient with an 46 X, i(Xq) karyotype, who went through a 4-week intensive inpatient treatment course for PPD, requiring electroconvulsant therapy for persistent infanticidal and suicidal ideation...
June 12, 2017: Menopause: the Journal of the North American Menopause Society
https://www.readbyqxmd.com/read/28602933/familial-epilepsy-with-anterior-polymicrogyria-as-a-presentation-of-col18a1-mutations
#10
Mark A Corbett, Samantha J Turner, Alison Gardner, Jeremy Silver, Jim Stankovich, Richard J Leventer, Christopher P Derry, Renée Carroll, Thuong Ha, Ingrid E Scheffer, Melanie Bahlo, Graeme D Jackson, David A Mackey, Samuel F Berkovic, Jozef Gecz
Knobloch syndrome [OMIM: (KNO1) #267750] is a rare and clinically heterogeneous autosomal recessive disorder caused by mutations in COL18A1. Knobloch syndrome is characterised by abnormalities of the eye and occipital skull defects however the full phenotypic spectrum is yet to be defined. This report describes a family of four affected sisters with polymicrogyria, refractory seizures, and intellectual impairment of varying severity with a Lennox-Gastaut phenotype, and complex eye abnormalities where a syndromic diagnosis was not initially made...
June 8, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28597237/energy-conserving-thermoregulatory-patterns-and-lower-disease-severity-in-a-bat-resistant-to-the-impacts-of-white-nose-syndrome
#11
Marianne S Moore, Kenneth A Field, Melissa J Behr, Gregory G Turner, Morgan E Furze, Daniel W F Stern, Paul R Allegra, Sarah A Bouboulis, Chelsey D Musante, Megan E Vodzak, Matthew E Biron, Melissa B Meierhofer, Winifred F Frick, Jeffrey T Foster, Daryl Howell, Joseph A Kath, Allen Kurta, Gerda Nordquist, Joseph S Johnson, Thomas M Lilley, Benjamin W Barrett, DeeAnn M Reeder
The devastating bat fungal disease, white-nose syndrome (WNS), does not appear to affect all species equally. To experimentally determine susceptibility differences between species, we exposed hibernating naïve little brown myotis (Myotis lucifugus) and big brown bats (Eptesicus fuscus) to the fungus that causes WNS, Pseudogymnoascus destructans (Pd). After hibernating under identical conditions, Pd lesions were significantly more prevalent and more severe in little brown myotis. This species difference in pathology correlates with susceptibility to WNS in the wild and suggests that survival is related to different host physiological responses...
June 8, 2017: Journal of Comparative Physiology. B, Biochemical, Systemic, and Environmental Physiology
https://www.readbyqxmd.com/read/28593616/new-insights-on-diabetes-in-turner-syndrome-results-from-an-observational-study-in-adulthood
#12
Daniela Ibarra-Gasparini, Paola Altieri, Emanuela Scarano, Annamaria Perri, Antonio M Morselli-Labate, Uberto Pagotto, Laura Mazzanti, Renato Pasquali, Alessandra Gambineri
OBJECTIVE: To explore the characteristics of diabetes mellitus in adults with Turner syndrome. DESIGN: Observational study consisting of a prospective phase after the access of adults with Turner syndrome to the Endocrinology Unit (median period of follow-up 15.6, interquartile range: 12.0-24.5 months) and a retrospective collection of data from the diagnosis of Turner syndrome until the time of access to the Endocrinology Unit. A total of 113 Italian Turner syndrome patients were included in the study...
June 7, 2017: Endocrine
https://www.readbyqxmd.com/read/28591595/mapping-the-effect-of-the-x-chromosome-on-the-human-brain-neuroimaging-evidence-from-turner-syndrome
#13
REVIEW
Chenxi Zhao, Gaolang Gong
In addition to determining sex, the X chromosome has long been considered to play a crucial role in brain development and intelligence. Turner syndrome (TS) is caused by the congenital absence of all or part of one of the X chromosomes in females. Thus, Turner syndrome provides a unique "knock-out model" for investigating how the X chromosome influences the human brain in vivo. Numerous cutting-edge neuroimaging techniques and analyses have been applied to investigate various brain phenotypes in women with TS, which have yielded valuable evidence toward elucidating the causal relationship between the X chromosome and human brain structure and function...
June 4, 2017: Neuroscience and Biobehavioral Reviews
https://www.readbyqxmd.com/read/28588710/the-clinical-analysis-of-small-supernumerary-marker-chromosomes-in-17-children-with-mos-45-x-46-x-mar-karyotype
#14
Hongying Wang, Ting Wang, Naichao Yang, Yaxiang He, Linqi Chen, Liyi Hong, Xuejun Shao, Hong Li, Hong Zhu, Haibo Li
Small supernumerary maker chromosome (sSMC) is a type of structurally abnormal chromosome. In order to identify the origin, morphology and other characteristics of sSMCs in children with mos 45,X/46,X,+mar karyotype, 17 patients (16 females and 1 male) were analyzed. All patients underwent general physical examination, gonadal imaging and molecular cytogenetic analyses, including Giemsa banding, dual-color fluorescence in situ hybridization and detection of the sex-determining region Y gene by polymerase chain reaction...
June 2017: Oncology Letters
https://www.readbyqxmd.com/read/28576390/genetic-basis-of-eugonadal-and-hypogonadal-female-reproductive-disorders
#15
REVIEW
Tatiana Trofimova, Daria Lizneva, Larisa Suturina, Walidah Walker, Yen-Hao Chen, Ricardo Azziz, Lawrence C Layman
This review discusses the current state of our understanding regarding the genetic basis of the most important reproductive disorders in women. For clarity, these disorders have been divided into eugonadal and hypogonadal types. Hypogonadal disorders have been further subdivided according to serum gonadotropin levels. Our review focuses on historical and recent data regarding the genetics of the hypothalamic-pituitary-gonadal axis dysfunction, as well as the development and etiology of eugonadal disorders including leiomyomata, endometriosis, spontaneous ovarian hyperstimulation syndrome, polycystic ovarian syndrome, mullerian aplasia, and steroid hormone resistance syndromes...
May 9, 2017: Best Practice & Research. Clinical Obstetrics & Gynaecology
https://www.readbyqxmd.com/read/28575299/mortality-in-children-receiving-growth-hormone-treatment-for-growth-disorders-data-from-the-genesis-observational-program
#16
Charmian A Quigley, Christopher J Child, Alan G Zimmermann, Ron G Rosenfeld, Leslie L Robison, Werner F Blum
Context: Although pediatric GH treatment is generally considered safe for approved indications, there have been long-held concerns regarding potential for increased risk of neoplasia and, more recently, of stroke and mortality in adults treated with GH during childhood. Objective: To assess mortality in children receiving GH. Design: Prospective, multi-national, observational study. Setting: Genetics and Neuroendocrinology of Short-stature International Study (GeNeSIS)...
May 26, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28555287/genetic-diagnostics-of-inherited-aortic-diseases-medical-strategy-analysis
#17
Y von Kodolitsch, K Kutsche
Genetic aortic syndromes (GAS) include Marfan, Loeys-Dietz, vascular Ehlers-Danlos, and Turner syndrome as well as congenital bicuspid aortic valve. The clinical management of these diseases has certain similarities and differences. We employed medical strategy analysis to test the utility of genetic diagnostics in the management of GAS. We chose the standpoint of the cardiologist for our analysis. In the first step, the medical goals in the management of GAS are specified. In the second step, the accuracy of genetic diagnostics for GAS is examined...
May 29, 2017: Herz
https://www.readbyqxmd.com/read/28553590/growth-hormone-treatment-in-turner-s-syndrome-a-real-world-experience
#18
Vijay Sheker Reddy Danda, P Sreedevi, G Arun, P Srinivas Rao
OBJECTIVE: Short stature is a universal clinical feature of Turner's syndrome (TS). Growth failure begins in fetal life, and adults with TS are on an average 20 cm shorter than the normal female population. Since there is a paucity of data from India regarding the effect of growth hormone (GH) on TS patients, we retrospectively analyzed the data of TS patients who are on GH treatment. METHODS: This hospital-based observational retrospective study was conducted in a tertiary care hospital of Hyderabad...
May 2017: Indian Journal of Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28545597/prefrontal-cortical-thinning-links-to-negative-symptoms-in-schizophrenia-via-the-enigma-consortium
#19
E Walton, D P Hibar, T G M van Erp, S G Potkin, R Roiz-Santiañez, B Crespo-Facorro, P Suarez-Pinilla, N E M van Haren, S M C de Zwarte, R S Kahn, W Cahn, N T Doan, K N Jørgensen, T P Gurholt, I Agartz, O A Andreassen, L T Westlye, I Melle, A O Berg, L Morch-Johnsen, A Færden, L Flyckt, H Fatouros-Bergman, E G Jönsson, R Hashimoto, H Yamamori, M Fukunaga, N Jahanshad, P De Rossi, F Piras, N Banaj, G Spalletta, R E Gur, R C Gur, D H Wolf, T D Satterthwaite, L M Beard, I E Sommer, S Koops, O Gruber, A Richter, B Krämer, S Kelly, G Donohoe, C McDonald, D M Cannon, A Corvin, M Gill, A Di Giorgio, A Bertolino, S Lawrie, T Nickson, H C Whalley, E Neilson, V D Calhoun, P M Thompson, J A Turner, S Ehrlich
BACKGROUND: Our understanding of the complex relationship between schizophrenia symptomatology and etiological factors can be improved by studying brain-based correlates of schizophrenia. Research showed that impairments in value processing and executive functioning, which have been associated with prefrontal brain areas [particularly the medial orbitofrontal cortex (MOFC)], are linked to negative symptoms. Here we tested the hypothesis that MOFC thickness is associated with negative symptom severity...
May 26, 2017: Psychological Medicine
https://www.readbyqxmd.com/read/28541768/sex-differences-in-the-presentation-of-body-dysmorphic-disorder-in-a-community-sample-of-adolescents
#20
Sophie C Schneider, Jonathan Mond, Cynthia M Turner, Jennifer L Hudson
The current study sought to explore sex differences in the presentation of probable full-syndrome and subthreshold body dysmorphic disorder (BDD) in adolescents from an Australian community sample. Specifically, it examined sex differences in the types of BDD symptoms endorsed, body areas of concern, and the association with elevated symptoms of comorbid disorders. In male participants, it also compared the presenting features of those with and without muscle dysmorphia. Of 3,149 adolescents assessed using self-report questionnaires, 162 (5...
May 25, 2017: Journal of Clinical Child and Adolescent Psychology
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