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"Turner Syndrome"

Carmen Brankaer, Pol Ghesquière, Anke De Wel, Ann Swillen, Bert De Smedt
Cross-syndrome comparisons offer an important window onto understanding heterogeneity in mathematical learning disabilities or dyscalculia. The present study therefore investigated symbolic numerical magnitude processing in two genetic syndromes that are both characterized by mathematical learning disabilities: Turner syndrome and 22q11.2 deletion syndrome (22q11DS). We further verified whether the phenotypic outcomes of these syndromes emerged from the same or different cognitive processes and therefore examined whether numerical impairments were related to working memory deficits, often observed in these syndromes...
October 17, 2016: Developmental Science
Veronica Gomez-Lobo, Anne-Marie Amies Oelschlager
Disorders (differences) of sexual development encompass a variety of conditions with atypical development of chromosomal, gonadal, or anatomic sex. Three of the most common differences of sex development conditions include congenital adrenal hyperplasia, complete androgen insensitivity, and Turner syndrome. Obstetrician-gynecologists who care for affected individuals in their practice must be familiar with the genetic, endocrine, and anatomic considerations of the most common conditions to provide optimal care...
October 6, 2016: Obstetrics and Gynecology
Ercan Mıhçı, Banu Güzel Nur, Sibel Berker-Karaüzüm, Aygen Yılmaz, Reha Artan
Celiac disease is an autoimmune, gastrointestinal disorder characterized by intolerance to the dietary grain protein gluten. An increased prevalence of celiac disease has been reported in Down syndrome and Turner syndrome, but there has been only few previous reports with respect to the association of celiac disease in Williams-Beuren syndrome. The aim of this study was to evaluate the frequency of celiac disease in our 24 Williams-Beuren syndrome patients. Gastrointestinal problems and celiac disease symptoms of patients were noted...
November 2015: Turkish Journal of Pediatrics
Christian Trolle, Morten Muhlig Nielsen, Anne Skakkebæk, Philippe Lamy, Søren Vang, Jakob Hedegaard, Iver Nordentoft, Torben Falck Ørntoft, Jakob Skou Pedersen, Claus Højbjerg Gravholt
Adults with 45,X monosomy (Turner syndrome) reflect a surviving minority since more than 99% of fetuses with 45,X monosomy die in utero. In adulthood 45,X monosomy is associated with increased morbidity and mortality, although strikingly heterogeneous with some individuals left untouched while others suffer from cardiovascular disease, autoimmune disease and infertility. The present study investigates the leukocyte DNAmethylation profile by using the 450K-Illumina Infinium assay and the leukocyte RNA-expression profile in 45,X monosomy compared with karyotypically normal female and male controls...
September 30, 2016: Scientific Reports
Diego A Lara, Mary K Ethen, Mark A Canfield, Wendy N Nembhard, Shaine A Morris
BACKGROUND: Hypoplastic left heart syndrome (HLHS) is strongly associated with Turner syndrome (TS); outcome data when these conditions coexist is sparse. We aimed to investigate long-term survival and causes of death in this population. METHODS: The Texas Birth Defects Registry was queried for all live born infants with HLHS during 1999-2007. We used Kaplan-Meier and Cox regression analyses to compare survival among patients with HLHS with TS (HLHS/TS+) to patients who had HLHS without genetic disorders or extracardiac birth defects (HLHS/TS-)...
September 29, 2016: Congenital Heart Disease
A Mandelberger, S Mathews, V Andikyan, L Chuang
No abstract text is available yet for this article.
November 2015: Journal of Minimally Invasive Gynecology
Gioconda Manassero-Morales, Denisse Alvarez-Manassero, Alfredo Merino-Luna
Introduction. The coexistence of Down and Turner syndromes due to double chromosome aneuploidy is very rare; it is even more rare to find the presence of a double monoclonal chromosomal abnormality. Objective. To report a unique case of double monoclonal chromosomal abnormality with trisomy of chromosome 21 and an X ring chromosome in all cells studied; no previous report has been found. Case Report. Female, 28 months old, with pathological short stature from birth, with the following dysmorphic features: tilted upward palpebral fissures, short neck, brachycephaly, and low-set ears...
2016: Case Reports in Pediatrics
Adam Stevens, Philip George Murray, Jerome Wojcik, John Raelson, Ekaterina Koledova, Pierre Chatelain, Peter E Clayton
OBJECTIVE: Single nucleotide polymorphisms (SNPs) associated with the response to r-hGH have previously been identified in GHD and TS children in the PREDICT long-term follow-up (LTFU) study (NCT00699855). Here we describe the PREDICT validation (VAL) study (NCT01419249) which aimed to confirm these genetic associations. DESIGN AND METHODS: Children with GHD (n=293) or TS (n=132) were recruited retrospectively from 29 sites in nine countries. All children had completed one year of r-hGH therapy...
September 20, 2016: European Journal of Endocrinology
Giuseppina Salzano, Mariarosa Calafiore, Cristina Mignosa, Stefano Passanisi, Jessica Trombatore, Giuseppina Zirilli
BACKGROUND: It is unknown whether phenotypic expression of Hashimoto's thyroiditis (HT) might be conditioned by the association with Turner syndrome (TS). OBJECTIVES: To focus on the most recent pediatric studies concerning epidemiology and biochemical course of HT in TS girls. DESIGN: The epidemiological peculiarities of TS-related HT in pediatric age were compared with those usually observed in non-TS girls with HT and results are summarized in Tables 1 and 2...
2016: Acta Bio-medica: Atenei Parmensis
Hyosoon An, Gi Beom Kim, Jae Suk Baek, Young Ah Lee, Bo Sang Kwon, Eun Jung Bae, Chung Il Noh
OBJECTIVE: Aortic dilatation and dissection are complications in some Turner syndrome (TS) patients. To better understand vascular nature of aorta before adult, we evaluated several elastic properties of the aorta in adolescent with TS in comparison to healthy controls. DESIGN AND METHOD: Various indices of the vascular function of ascending aorta were assessed prospectively in TS (n = 28), with a mean age of 14.9 ± 3.3 years and age-matched control (n = 18) groups with the transthoracic echocardiography...
September 2016: Journal of Hypertension
Pierre-Emmanuel Bouet, Ariane Godbout, Hady El Hachem, Maude Lefebvre, Lyne Bérubé, Marie-Danielle Dionne, Carole Kamga-Ngande, Louise Lapensée
Turner syndrome (TS) occurs in one in 2500 live female births and is one of the most common chromosomal abnormalities in women. Pregnancies in women with TS, conceived with either autologous or donated oocytes, are considered high risk because of the associated miscarriages and life-threatening cardiovascular complications (aortic dissection, severe hypertension). Therefore, it is imperative to conduct a full preconception evaluation and counselling that includes cardiac assessment with Holter blood pressure monitoring, echocardiography, and thoracic MRI...
August 2016: Journal of Obstetrics and Gynaecology Canada: JOGC, Journal D'obstétrique et Gynécologie du Canada: JOGC
Allard T van den Hoven, Anthonie L Duijnhouwer, Andreas Eicken, Jamil Aboulhosn, Christiaan de Bruin, Philippe F Backeljauw, Laurent Demulier, Massimo Chessa, Anselm Uebing, Gruschen R Veldtman, Aimee K Armstrong, Annemien E van den Bosch, Maarten Witsenburg, Jolien W Roos-Hesselink
OBJECTIVES: This study examines the outcome and procedural outcomes of percutaneous stent angioplasty for aortic coarctation in patients with Turner syndrome (TS). BACKGROUND: TS occurs in 1 in 2,500 live-born females and is associated with aortic coarctation. METHODS: In this multicenter, retrospective cohort study, all patients with TS and a coarctation of the aorta, treated with percutaneous stent implantation were included. The procedural strategies were dictated by local protocols...
September 15, 2016: Catheterization and Cardiovascular Interventions
Hyo Soon An, Jae Suk Baek, Gi Beom Kim, Young Ah Lee, Mi Kyoung Song, Bo Sang Kwon, Eun Jung Bae, Chung Il Noh
To investigate intrinsic vascular abnormalities of the ascending aorta before adulthood in Turner syndrome patients (TS), we compared 25 adolescent TS patients (mean age 14.6 ± 3.4 years) and 16 healthy controls from a university hospital. Blood pressure and other vascular indices were evaluated using echocardiography such as aortic strain, stiffness index, distensibility, and pulse wave velocity. Aortic strain (0.1237 vs. 0.1865, respectively; P = 0.003) and aortic distensibility (0.0049 vs. 0.0081, P = 0...
September 15, 2016: Pediatric Cardiology
Jayne M MacMahon, Maureen J O'Sullivan, Michael McDermott, Feargal Quinn, Thomas Morris, Andrew J Green, David R Betts, Susan M O'Connell
Mosaic Turner syndrome (TSM) commonly occurs in the form of 45,X/46,XX and 45,X/46,X,i(X)(q10). Mosaicism for a Y chromosome, 45,X/46,XY, has been well documented and is associated with increased risk of gonadoblastoma (GB). To date, there are only six reported cases of TSM with a trisomy 18 karyotype, and only two of these were phenotypically female with 45,X/47,XY,+18 karyotype. We present the case of a phenotypically female infant born with dysmorphic features. G-banded karyotype and interphase FISH of blood showed 45,X in 95% and 47,XY,+18 (trisomy 18) in 5% of cells analysed...
September 10, 2016: Hormone Research in Pædiatrics
Haytham Kubba, Arlene Smyth, Sze Choong Wong, Avril Mason
BACKGROUND: Turner's syndrome (TS) is a common chromosomal disorder, affecting 1 in 2000 newborn girls, in which part or all of one X chromosome is missing. Ear and hearing problems are very common in girls and women with TS. The aim of this review was to review the published literature in order to suggest recommendations for otological health surveillance. METHOD: A keyword search of Ovid Medline was performed for published literature on the subject and evidence rated according to the GRADE criteria...
September 10, 2016: Clinical Otolaryngology
Arianna Martin, Eve-Marie Quintin, Scott S Hall, Allan L Reiss
Fragile X syndrome (FXS) is associated with executive function (EF) and independent living skills (ILS) deficits. We examined the role of childhood EF in ILS during adolescence/early adulthood in females with FXS and two comparison groups in the same age range (matched for IQ [IQ/Age group] and with another genetic condition, Turner syndrome [TS group]). EF and ILS were significantly higher for the FXS group than the IQ/Age group but did not differ from the TS group. For the FXS group, age and EF were significant predictors of ILS during adolescence/early adulthood, but there were no statistically significant longitudinal associations between EF and ILS...
September 2016: American Journal on Intellectual and Developmental Disabilities
Siddharth K Prakash, Carolyn A Bondy, Cheryl L Maslen, Michael Silberbach, Angela E Lin, Laura Perrone, Giuseppe Limongelli, Hector I Michelena, Eduardo Bossone, Rodolfo Citro, Scott A Lemaire, Simon C Body, Dianna M Milewicz
Turner Syndrome (TS) is a developmental disorder caused by partial or complete loss of one sex chromosome. Bicuspid aortic valve and other left-sided congenital heart lesions (LSL), including thoracic aortic aneurysms and acute aortic dissections, are 30-50 times more frequent in TS than in the general population. In 454 TS subjects, we found that LSL are significantly associated with reduced dosage of Xp genes and increased dosage of Xq genes. We also showed that genome-wide copy number variation is increased in TS and identify a common copy number variant (CNV) in chromosome 12p13...
September 8, 2016: American Journal of Medical Genetics. Part A
Douglas A Canning
No abstract text is available yet for this article.
September 2016: Journal of Urology
Jian-Fa Jiang, Qin-Jie Tian, Wei Xue, Yan Deng, Ting-Ping Zheng, Ai-Jun Sun
Objective To summarize the clinical features of XO/XY gonadal dysgenesis. Method We retrospectively analyzed the clinical data of patients with XO/XY gonadal dysgenesis admitted to Peking Union Medical College Hospital from January 2008 to May 2015. Results Totally 32 patients with XO/XY gonadal dysgenesis were included. The social gender was female in all subjects and the age 6 to 33 years. Patients presented mainly with primary amenorrhea or short stature,and usually had specific somatic signs of Turner's syndrome...
August 2016: Zhongguo Yi Xue Ke Xue Yuan Xue Bao. Acta Academiae Medicinae Sinicae
Iris M van Hagen, Anthonie L Duijnhouwer, Marianne J Ten Kate-Booij, Ramon H M Dykgraaf, Johannes J Duvekot, Elisabeth M W J Utens, Jolien W Roos-Hesselink
INTRODUCTION: Turner syndrome (TS) is associated with subfertility and infertility. Nevertheless, an increasing number of women become pregnant through oocyte donation. The wish to conceive may be negatively influenced by the fear of cardiovascular complications. The aim was to investigate the wish to conceive and the concerns about cardiovascular complications during pregnancy in women with TS. METHODS: The patient association for TS invited all members of ≥18 years old (n = 344) to complete a specifically developed, disease-specific questionnaire, including questions about fertility, wish to conceive, attempts and concerns...
September 1, 2016: Journal of Psychosomatic Obstetrics and Gynaecology
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