Results 51 to 60 of about 244,398 (299)

Methodological advances in patient-centered rare disease research: the UTHealth Houston Turner Syndrome Society of the United States research registry

Orphanet Journal of Rare Diseases
Background Many different clinical specialists provide care to patients with Turner syndrome (TS), who have highly variable clinical manifestations. Therefore, a national TS registry is essential to inform a cohesive approach to healthcare and research ...
Sara Mansoorshahi, Cindy Scurlock, Scientific Advisory Board of the Turner Syndrome Society of the United States Research Registry, Siddharth K Prakash   +3 more
doaj   +1 more source

Left Ventricular Noncompaction in a Child with Turner Syndrome

Case Reports in Pediatrics, 2019
Congenital heart disease (CHD) may cause a significant comorbidity in patients with Turner syndrome. The commonly reported CHD in these patients includes bicuspid aortic valve and coarctation of the aorta.
Snigdha Bhatia, Amna Qasim, Murad Almasri, Luba Frank, Ashraf M. Aly   +4 more
doaj   +1 more source

Complex X chromosome rearrangement associated with multiorgan autoimmunity [PDF]

, 2015
BACKGROUND: Turner syndrome, a congenital condition that affects 1/2,500 births, results from absence or structural alteration of the second sex chromosome.
A Franzese, A Grossi, Anikó Somogyi, Antónia Völgyi, Artúr Beke, C Hernando, CC Wong, CH Gravholt, CM Powell, D Chang, D Wechsler, Dezső David, EJ Verver, Eszter Kiss, F Rousseau, F Schmidt, FS Grass, G Horváth, G Koumbaris, GS Letteire, György Fekete, H Pamjav, Henriett Pikó, Horolma Pamjav, I Bianchi, Irén Haltrich, J Auger, KT Jørgensen, ME Ochalski, MJ Schoemaker, MK Kim, N Morimoto, OA Shchelochkov, P Invernizzi, RT Hamza, T Eggermann, T Terano, Veronika Karcagi, VK Bakalov, VK Bakalov, W Gawron, Zoltán Garamvölgyi   +41 more
core   +2 more sources

Efficacy and Safety Analysis of Roxarestat in Regulating Renal Anemia in Patients on Maintenance Hemodialysis

Therapeutic Apheresis and Dialysis, EarlyView.
ABSTRACT Objective To compare the efficacy and safety of roxarestat versus recombinant human erythropoietin (rhEPO) in the management of renal anemia in patients undergoing maintenance hemodialysis. Methods This was a prospective, open‐label, randomized controlled trial.
Lingling Chen, Junjie Zhu, Qiaonan Ge
wiley   +1 more source

Prevalence of autoimmune thyroid diseases among the Turner Syndrome patients: meta-analysis of cross sectional studies

BMC Research Notes, 2018
Objective This meta-analysis was done to estimate the prevalence of autoimmune thyroid diseases (ATDs) in Turner Syndrome patients, and to determine the clinical status of thyroid autoimmune diseases that occur frequently in association with Turner ...
Sagad Omer Obeid Mohamed, Ibrahim Hassan Eldaw Elkhidir, Abdelhamid Ibrahim Hassan Abuzied, Ahmed Abdulgadir Mohammed Hassan Noureddin, Gehad Abdelmonem Abdalla Ibrahim, Ahmed Abdallah Ali Mahmoud   +5 more
doaj   +1 more source

A cohort study of post-weaning multisystemic wasting syndrome and PCV2 in 178 pigs from birth to 14 weeks on a single farm in England [PDF]

, 2010
Our hypothesis was that pigs that develop post-weaning multisystemic wasting syndrome (PMWS) are detectable from an early age with signs of weight loss and other clinical and serological abnormalities.
A.J. Easton, Allan, Allan, Blanchard, Calsamiglia, Chae, Darwich, G.F. Medley, Grau-Roma, Harding, J. Slevin, J.C. Brown, K.A. Woodbine, Krakowka, L. Francis, L.E. Green, Larochelle, Lopez-Soria, M.J. Turner, Madec, Meerts, Meerts, Nielsen, Opriessnig, P.D. Scott, Rodriguez-Arrioja, Rodriguez-Arrioja, Rose, Rosell, Segales, Snow, Turner, Wiederkehr, Woodbine   +33 more
core   +2 more sources

Reciprocal control of viral infection and phosphoinositide dynamics

FEBS Letters, EarlyView.
Phosphoinositides, although scarce, regulate key cellular processes, including membrane dynamics and signaling. Viruses exploit these lipids to support their entry, replication, assembly, and egress. The central role of phosphoinositides in infection highlights phosphoinositide metabolism as a promising antiviral target.
Marie Déborah Bancilhon, Bruno Mesmin
wiley   +1 more source

Sonographically determined anomalies and outcome in 170 chromosomally abnormal fetuses [PDF]

, 1995
Structural pathology and outcome were studied in 170 chromosomally abnormal fetuses. Numerical chromosomal abnormalities were established in 158 (93 per cent) cases, of which 110 (71 per cent) represented trisomies, 30 (18 per cent) Turner syndrome, and ...
Bhaggoe, W.R. (W.), Brandenburg, H. (Helen), Cohen-Overbeek, T.E. (Titia), Hollander, N.S. (Nicolette) den, Kristelijn, M.J.E. (M. J E), Los, F.J., Wladimiroff, J.W. (Juriy)   +6 more
core   +6 more sources

Pheochromocytoma as a rare cause of hypertension in a 46 X, i(X)(q10) turner syndrome: a case report and literature review

BMC Endocrine Disorders, 2018
Background Cardiovascular disease (CVD) presents the most serious health problems and contributes to the increased mortality in young women with Turner syndrome.
Ji Yeon Shin, Bo Hyun Kim, Young Keum Kim, Tae Hwa Kim, Eun Heui Kim, Min Jin Lee, Jong Ho Kim, Yun Kyung Jeon, Sang Soo Kim, In Joo Kim   +9 more
doaj   +1 more source

Hearing loss in Adult Women with Turner Syndrome [PDF]

, 2013
L'objectiu d'aquest estudi és definir els patrons d'hipoacúsia en dones amb Síndrome de Turner i els possibles factors que poden afavorir el desenvolupament d'hipoacúsia neurosensorial en dones adultes amb Síndrome de Turner.
Andreu Castelo-Branco, Camil, Salas Puig, Francisco Javier, Santamaria Cano, Joan, Tercero Uribe, Ana Isabel, Universitat Autònoma de Barcelona. Departament de Medicina, Universitat Autònoma de Barcelona. Facultat de Medicina   +5 more
core