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Turner's syndrome

Anna Grandone, Francesca Del Vecchio Blanco, Annalaura Torella, Manuela Caruso, Filippo De Luca, Raffaella Di Mase, Maria Francesca Messina, Maria Carolina Salerno, Alessia Sallemi, Lucia Perone, Pierluigi Marzuillo, Emanuele Miraglia Del Giudice, Vincenzo Nigro, Laura Perrone
AIMS: We aimed at evaluating a standard multiplex ligation-dependent probe amplification (MLPA) probe set for the detection of aneuploidy to diagnose Turner syndrome (TS). We first fixed an MLPA ratio cutoff able to detect all cases of TS in a pilot TS group. We then tested this value on a second group of TS patients and a short-stature population to measure specificity and sensitivity. METHODS: 15 TS patients with X mosaicism or X structural abnormalities (Pilot TS Group), 45 TS karyotype-assessed patients (TS Group), and 74 prepubertal female patients with apparent idiopathic short stature (Short-Stature Group) were enrolled...
October 27, 2016: Hormone Research in Pædiatrics
Esmé G Trevelyan, Warren A Turner, Lynn Summerfield-Mann, Nicola Robinson
BACKGROUND: Post amputation, the complication of phantom limb pain (PLP) is prevalent and difficult to manage. This study aimed to determine whether it was feasible and acceptable to undertake a definitive multicentred randomised controlled trial assessing the effectiveness of acupuncture for treating lower limb amputees with PLP. METHODS: A mixed-methods embedded design, including a randomised controlled trial and semistructured interviews, was undertaken. A total of 15 participants with PLP were randomly assigned to receive either eight pragmatic Traditional Chinese Medicine acupuncture treatments and usual care or usual care alone over 4 weeks...
October 25, 2016: Trials
(no author information available yet)
[This retracts the article on p. 226 in vol. 20, PMID: 26817010.].
September 2016: Annals of Pediatric Endocrinology & Metabolism
Arlener D Turner, Andrew S Lim, Sue E Leurgans, David A Bennett, Aron S Buchman, Lisa L Barnes
OBJECTIVE: Assess the relationship of self-reported sleep quality and possible sleep disorders with disability in a racially diverse sample of community-dwelling older adults. METHODS: Participants included 943 non-demented older African Americans (n=452) and Whites (n=491) from two cohort studies, the Minority Aging Research Study (MARS) and the Rush Memory and Aging Project (MAP). Participants completed a 32-item questionnaire assessing sleep quality and the possible presence of three sleep disorders (sleep apnea, restless leg syndrome [RLS] and REM behavior disorder [RBD])...
October 20, 2016: Ethnicity & Disease
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
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