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Turner syndrome

Geraint P Williams, Peter Nightingale, Sue Southworth, Alastair K O Denniston, Paul J Tomlins, Stephen Turner, John Hamburger, Simon J Bowman, S John Curnow, Saaeha Rauz
Purpose: Ocular mucous membrane pemphigoid (OcMMP) is a rare autoimmune disorder resulting in progressive conjunctival fibrosis and ocular surface failure leading to sight loss in up to 50%. This study was designed to optimize an ocular surface sampling technique for identification of novel biomarkers associated with disease activity and/or progressive fibrosis. Methods: Fifty-seven patients with OcMMP underwent detailed examination of conjunctival inflammation and fibrosis using fornix depth measurement...
October 1, 2016: Investigative Ophthalmology & Visual Science
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
Ricarda A L Menke, Federica Agosta, Julian Grosskreutz, Massimo Filippi, Martin R Turner
Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative, clinically heterogeneous syndrome pathologically overlapping with frontotemporal dementia. To date, therapeutic trials in animal models have not been able to predict treatment response in humans, and the revised ALS Functional Rating Scale, which is based on coarse disability measures, remains the gold-standard measure of disease progression. Advances in neuroimaging have enabled mapping of functional, structural, and molecular aspects of ALS pathology, and these objective measures may be uniquely sensitive to the detection of propagation of pathology in vivo...
October 17, 2016: Neurotherapeutics: the Journal of the American Society for Experimental NeuroTherapeutics
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
Lijiang Ma, Yavuz Bayram, Heather M McLaughlin, Megan T Cho, Alyson Krokosky, Clesson E Turner, Kristin Lindstrom, Caleb P Bupp, Katey Mayberry, Weiyi Mu, Joann Bodurtha, Veronique Weinstein, Neda Zadeh, Wendy Alcaraz, Zöe Powis, Yunru Shao, Daryl A Scott, Andrea M Lewis, Janson J White, Shalani N Jhangiani, Elif Yilmaz Gulec, Seema R Lalani, James R Lupski, Kyle Retterer, Rhonda E Schnur, Ingrid M Wentzensen, Sherri Bale, Wendy K Chung
Intellectual disabilities are genetically heterogeneous and can be associated with congenital anomalies. Using whole-exome sequencing (WES), we identified five different de novo missense variants in the protein phosphatase-1 catalytic subunit beta (PPP1CB) gene in eight unrelated individuals who share an overlapping phenotype of dysmorphic features, macrocephaly, developmental delay or intellectual disability (ID), congenital heart disease, short stature, and skeletal and connective tissue abnormalities. Protein phosphatase-1 (PP1) is a serine/threonine-specific protein phosphatase involved in the dephosphorylation of a variety of proteins...
December 2016: Human Genetics
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
David W Lim, Abdoulaye Diané, Mitsuru Muto, Donna F Vine, Patrick N Nation, Pamela R Wizzard, David L Sigalet, David L Bigam, Paul B Pencharz, Justine M Turner, Paul W Wales
BACKGROUND: We aim to study the efficacy of exogenously administered glucagon-like peptide 2 (GLP-2) on intestinal adaptation in 2 preclinical models of neonatal short bowel syndrome (SBS) according to remnant intestinal anatomy, with and without ileum. Furthermore, we aim to determine if this adaptive effect was potentiated with enteral nutrition (EN). METHODS: Neonatal piglets were block-randomized to 75% mid-intestinal (JI group, retains ileum) or distal-intestinal (JC group, has no ileum) resection or no resection (sham control) and GLP-2 treatment (11 nmol/kg/d) or saline control for 7 days...
September 22, 2016: JPEN. Journal of Parenteral and Enteral Nutrition
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
Sam Mehr, Roger Allen, Christina Boros, Navid Adib, Alyson Kakakios, Paul J Turner, Maureen Rogers, Yvonne Zurynski, Davinder Singh-Grewal
AIM: Cryopyrin-associated periodic syndromes (CAPS) encapsulate three auto-inflammatory conditions, ranging in severity from mild (familial cold auto-inflammatory syndrome: FCAS), moderate (Muckle-Wells syndrome: MWS) and severe (neonatal onset multi-inflammatory disorder: NOMID). We aimed to describe the epidemiology, clinical features and outcomes of Australian children and adults with CAPS. METHODS: Patients were identified and clinical data collected through a questionnaire sent during 2012-2013 to clinicians reporting to the Australian Paediatric Surveillance Unit and subscribing to the Australasian Societies for Allergy/Immunology, Rheumatology and Dermatology...
September 2016: Journal of Paediatrics and Child Health
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
T M Yates, C L S Turner, H V Firth, J Berg, D T Pilz
Baraitser-Winter Cerebrofrontofacial syndrome (BWCFF) [BRWS; MIM #243310, 614583] is a rare developmental disorder affecting multiple organ systems. It is characterised by intellectual disability (mild to severe) and distinctive facial appearance (metopic ridging/trigonocephaly, bilateral ptosis, hypertelorism). The additional presence of cortical malformations (pachygyria/lissencephaly) and ocular colobomata are also suggestive of this syndrome. Other features include moderate short stature, contractures, congenital cardiac disease and genitourinary malformations...
September 13, 2016: Clinical Genetics
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