keyword
MENU ▼
Read by QxMD icon Read
search

"Turner Syndrome"

keyword
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/28630649/a-complete-duplication-of-x-chromosome-resulting-in-a-tricentric-isochromosome-originated-by-centromere-repositioning
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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/28593616/new-insights-on-diabetes-in-turner-syndrome-results-from-an-observational-study-in-adulthood
#8
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
#9
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
#10
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
#11
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
#12
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
#13
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
#14
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/28523940/delay-in-estrogen-commencement-is-associated-with-lower-bone-mineral-density-in-turner-syndrome
#15
H H Nguyen, P Wong, B J Strauss, G Jones, P R Ebeling, F Milat, A Vincent
OBJECTIVE: Turner syndrome (TS) is associated with hypogonadism, osteoporosis and fractures. We investigated the prevalence and risk factors for low bone density and fractures in a TS cohort. METHODS: We included 76 TS patients (median age 28.5 years) attending a tertiary hospital between 1998 and 2015 who underwent dual-energy X-ray absorptiometry. Spine and femoral neck (FN) areal bone mineral density (aBMD) were compared with those of a control group. To adjust for smaller bone size, bone mineral apparent density (BMAD) was calculated...
May 19, 2017: Climacteric: the Journal of the International Menopause Society
https://www.readbyqxmd.com/read/28522645/real-life-gh-dosing-patterns-in-children-with-ghd-ts-or-born-sga-a-report-from-the-nordinet%C3%A2-international-outcome-study
#16
Oliver Blankenstein, Marta Snajderova, Joanne C Blair, Effie Pournara, Birgitte Tønnes Pedersen, Isabelle Oliver Petit
OBJECTIVE: To describe real-life dosing patterns in children with growth hormone deficiency (GHD), born small for gestational age (SGA) or with Turner syndrome (TS) receiving growth hormone (GH) and enrolled in the NordiNet® International Outcome Study (IOS; NCT00960128) between 2006 and 2016. DESIGN: This non-interventional, multicentre study included paediatric patients diagnosed with GHD (isolated [IGHD] or multiple pituitary hormone deficiency [MPHD]), born SGA or with TS and treated according to everyday clinical practice from the Czech Republic (IGHD/MPHD/SGA/TS: n=425/61/316/119), France (n=1404/188/970/206), Germany (n=2603/351/1387/411) and the UK (n=259/60/87/35)...
May 18, 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/28516754/adult-height-in-patients-with-turner-syndrome-and-association-with-lifestyle-related-diseases-after-human-growth-hormone-treatment-in-japan
#17
Kunihiko Hanew, Toshiaki Tanaka
No abstract text is available yet for this article.
March 2017: Pediatric Endocrinology Reviews: PER
https://www.readbyqxmd.com/read/28516753/revision-of-the-growth-references-for-japanese-girls-with-turner-syndrome
#18
Tsuyoshi Isojima
No abstract text is available yet for this article.
March 2017: Pediatric Endocrinology Reviews: PER
https://www.readbyqxmd.com/read/28516752/growth-hormone-treatment-and-adverse-events
#19
Yoshikazu Nishi, Toshiaki Tanaka
We compiled the major adverse events included in the Annual Research Reports of the Foundation for Growth Research published in and after 2000. We conducted a review of approximately 32,000 patients treated with growth hormone (GH) who subsequently developed leukemia and who were registered with the Foundation for Growth Research (from 1975 to December 31 1997). We performed a literature review and found that GH therapy was not associated with leukemia onset in patients with no risk factors for leukemia. We also reported the onset of diabetes mellitus (DM), scoliosis, and respiratory problems in patients with Prader-Willi syndrome who were treated with GH...
March 2017: Pediatric Endocrinology Reviews: PER
https://www.readbyqxmd.com/read/28508615/a-multidisciplinary-approach-to-puberty-and-fertility-in-girls-with-turner-syndrome
#20
Johanna Viau Colindres, Krista J Childress, Marni Axelrad, Laurence B McCullough, Yunru Shao, Charles Macias, Jennifer Loveless, Sheila K Gunn, Jennifer Bercaw-Pratt, Reid Sutton, Lefkothea P Karaviti, Jennifer E Dietrich
Women with Turner Syndrome (TS) have a variety of medical needs throughout their lives; however, the peripubertal years are particularly challenging. From a medical perspective, the burden of care increases during this time due to growth optimization strategies, frequent health screenings, and puberty induction. Psychologically, girls begin to comprehend the long-term implications of the condition, including their diminished fertility potential. Unfortunately, clear guidelines for how to best approach this stage have not been established...
September 2016: Pediatric Endocrinology Reviews: PER
keyword
keyword
84378
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"