Results 61 to 70 of about 7,599,301 (308)

Neuropsychological and Educational Outcomes in Shwachman–Diamond Syndrome—A Report From the North American Shwachman–Diamond Syndrome Registry

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Shwachman–Diamond syndrome (SDS) is a rare autosomal recessive ribosomopathy characterized by bone marrow failure and multisystem involvement, with emerging evidence of associated neurocognitive impairment. Methods We conducted a retrospective study of 240 individuals with biallelic Shwachman–Bodian–Diamond syndrome (SBDS) mutations
Jane Koo, Melissa Gerstle, Leah Cheng, Richard Cooper, Katherine Coyne, Claire Dusa, Naomi E. Joffe, Diana Schwarz, Sarah Steltz, Akiko Shimamura, Kasiani C. Myers, Thea Quinton   +11 more
wiley   +1 more source

Deep Resequencing of GWAS Loci Identifies Rare Variants in CARD9, IL23R and RNF186 That Are Associated with Ulcerative Colitis [PDF]

, 2013
Genome-wide association studies and follow-up meta-analyses in Crohn's disease (CD) and ulcerative colitis (UC) have recently identified 163 disease-associated loci that meet genome-wide significance for these two inflammatory bowel diseases (IBD). These
Vermeire, S, Richard H. Duerr (107855), Steve R. Brant, Barclay, M, Sharma, Y., Alikashani, Azadeh, Rutgeerts, P, Colombel, JF, Philippe Goyette, Franke, Andre,, Gautam Goel (457889), Sharma, Yashoda,, Targan, SR, Bresso, Francesca,, Lawrance, I, Ken Sin Lo (457887), Xavier, Ramnik, Jonas Halfvarson, Levine, A, International IBD Genetics Consortium, [missing], McGovern, Dermot P. B., Lo, KS, Regueiro, M, Ellinghaus, David, Stevens, Christine,, International IBD Genetics Consortium, Ahmad, T, D'Inca, R, Bitton, A., Ramnik J. Xavier (153776), Sharma, Y, Lo, K.S., International, I.B.D.G.C., Judy H Cho, Silverberg, MS, Franke, A., Beaudoin, Melissa,, Goel, G, Griffiths, AM, Törkvist, L, Quebec IBD Genetics Consortium, [missing], Azadeh Alikashani (457888), Caroline Lagacé, Weersma, Rinse K., D'Amato, M., Glas, J, Sharma, Yashoda, Weersma, Rinse K.,, Philip L Schumm, Lettre, G., Mowat, Craig; id_orcid, Panés, J, Gautam Goel, Ellinghaus, D., Stevens, C., Beaudoin, Melissa, Jostins, L, Vermeire, S., Guthery, SL, Annese, V, Bis, JC, Lettre, Guillaume, Mélissa Beaudoin, Radford-Smith, G., Azadeh Alikashani, Duerr, RH, Lagacé, C, Boucher, Gabrielle,, Radford-Smith, GL, Newman, W, Florin, T, Phillips, A, Philip L. Schumm (457892), Guillaume Lettre (163230), Weersma, R.K., Gearry, R, Goyette, P., van Gossum, A, Rioux, J.D., Silverberg, Mark S., Lee, J, Vermeire, Severine, Franchimont, Denis, Yashoda Sharma, Mark S Silverberg, Goel, Gautam,, Mauro D'Amato (191109), Daly, Mark J.,, Georges, M, Latiano, A, Duerr, R.H., Proctor, DD, Quebec IBD Genetics Consortium, Duerr, Richard H., Begun, Jakob,, Schreiber, Stefan, John D Rioux, Stevens, Christine, Bresso, F, Cho, Judy H., Schreiber, S., Leif Törkvist (191104), Rivas, M. A., Severine Vermeire, McGovern, D.P.B., Weersma, Rinse K.; id_orcid, Ladouceur, Martin,, Mitrovic, M, Halfvarson, J., Laukens, D, Brant, Steve R., Halfvarson, J, Halfvarson, Jonas, David Ellinghaus (87596), ?, ?, Yashoda Sharma (362205), , K.S. lo, Parkes, M, Mark J Daly, Vito Annese (212128), Lo, Ken Sin,, Rioux, JD, Guillaume Lettre, Manuel A. Rivas, Philip L. Schumm, Goyette, P, Silverberg, M.S., et al., Schumm, PL, Bitton, Alain, Goel, G., Brand, S, Xavier, Ramnik J.,, Christine Stevens (401796), John D. Rioux, Aumais, G, Martin Ladouceur (144366), Cohen, A, Van Gossum, André, Rivas, M.A., Cho, JH, Rivas, Manuel A.,, Cottone, M, Steve R Brant, Ramnik J Xavier, Schumm, Philip L.,, Ken Sin Lo, Cho, Judy H.,, Palmieri, O, Jakob Begun, Gabrielle Boucher, Xavier, R.J., Christine Stevens, Lettre, G, Halfvarson, Jonas,, Brant, S.R., McGovern, Dermot P. B.,, Daly, Mark J., Manuel A Rivas, Potocnik, U, Stevens, C, Begun, J., Philippe Goyette (215465), Ladouceur, M, Bitton, Alain,, Silverberg, Mark S.,, Dermot P B McGovern, McGovern, DPB, Lo, Ken Sin, Alain Bitton (259250), Balschun, T, Prescott, NJ, Boucher, Gabrielle, Anderson, CA, Bresso, F., Schreiber, S, Annese, Vito,, Lo, K. S., International IBD Genetics Consortium,, Schreiber, Stefan,, Francesca Bresso, Mark S. Silverberg, Montgomery, GW, Ladouceur, M., Lees, CW, David Ellinghaus, Mansfield, JC, Mathew, CG, Judy H. Cho, Kugathasan, S, Caroline Lagacé (215515), Franke, Andre, Satsangi, Jack, Weersma, RK, Bresso, Francesca, Mauro D'Amato, Ellinghaus, D, John D. Rioux (215621), McGovern, D.P., Lagace, C., D'Amato, Mauro, Lemann, M, Franke, A, Gabrielle Boucher (215508), Alikashani, Azadeh,, Begun, Jakob, Graham Radford-Smith, Lettre, Guillaume,, Leif Törkvist, Alain Bitton, Mark J. Daly, Deslandres, C, Mowat, C, Steinhart, AH, NIDDK IBD Genetics Consortium, [missing], Xavier, RJ, Boucher, G, Libioulle, C, Lees, Charlie, Rinse K. Weersma (131692), Richard H Duerr, Schumm, P.L., Ellinghaus, David,, Judy H. Cho (159806), Goel, Gautam, Martin Ladouceur, Kullak-Ublick, G, Törkvist, Leif,, Vito Annese, Lagace, Caroline,, D'Amato, Mauro,, Jakob Begun (273749), Begun, J, Alikashani, A., Annese, Vito, Brant, Steve R.,, Int IBD Genetics Consortium, Ponsioen, CY, Ladouceur, Martin, Graham Radford-Smith (457891), Radford-Smith, Graham L., Duerr, Richard H.,, Daly, M.J., Beaudoin, M., Goyette, Philippe, Torkvist, L., Lahaie, R, Dermot P. B. McGovern (179863), Rivas, Manuel A., Brant, SR, Edwards, C, Bayless, TM, Hakonarson, H, Ramnik J. Xavier, Gibson, Greg, Stefan Schreiber, Radford-Smith, Graham,, Louis, E, Mark S. Silverberg (179888), Annese, V., Beaudoin, M, Bernard, EJ, de Jong, DJ, Rivas, MA, Buning, C, Jong, D.J. de, Manuel A. Rivas (228371), Dermot P. B. McGovern, Haritunians, T, Goyette, Philippe,, Consortium, N.I.G., Rinse K. Weersma, Cho, J.H., Baldassano, RN, Mark J. Daly (210204), Andre Franke (77511), Lagace, Caroline, Denson, T, Franchimont, D, Mélissa Beaudoin (457886), NIDDK IBD Genetics Consortium, Alikashani, A, Boucher, G., D'Amato, M, Hugot, JP, Bitton, A, Severine Vermeire (5649814), Schumm, Philip L., Barrett, JC, Richard H. Duerr, Quebec, I.B.D.G.C., Rioux, John D., Steve R. Brant (457890), Andre Franke, Dubinsky, M, Stefan Schreiber (36915), Laukens, Debby, Daly, MJ, Bumpstead, S, Francesca Bresso (191101), Rinse K Weersma, Xavier, Ramnik J., Daly, Mark, Torkvist, Leif, Jonas Halfvarson (117749), Radford-Smith, Graham, Paré, P, Rioux, John D.,, Vermeire, Severine,   +308 more
core   +3 more sources

Survival After Hematopoietic Stem Cell Transplantation in Diamond–Blackfan Anemia Syndrome: The Role of Iron Overload—A Systematic Review

Pediatric Blood &Cancer, EarlyView.
ABSTRACT We assessed the effect of iron overload (IO) on mortality and complications following hematopoietic stem cell transplantation (HSCT) in patients with Diamond–Blackfan anemia syndrome (DBAS) in a systematic review of individual participant data and cohort data from observational studies.
Geoffrey Z. L. Kuppens, Evangelia Kiakou, Lieke de Zwart, Maurizio Miano, Eduard J. van Beers, Marc Bierings, Marije Bartels   +6 more
wiley   +1 more source

A Situational Assessment of the Diagnostic Landscape and Organizational Readiness to Implement Next‐Generation Sequencing at Two Childhood Cancer Treatment Centers in Ghana

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Purpose Next‐generation sequencing (NGS) has emerged as a promising approach to improve diagnostic accuracy, but its feasibility in low‐ and middle‐income countries remains unknown. This study characterized the diagnostic landscape and assessed organizational readiness for NGS implementation at two childhood cancer treatment centers in Accra ...
Melissa Carvalho, Emmanuella Amoako, Nihad Salifu, Lily Gloria Tagoe, Yaw Bediako, Michelle Hermiston, Catherine Segbefia   +6 more
wiley   +1 more source

Studying Epidemiological Properties Of Rare Diseases

, 2021
Introduction: A type of disease where a small percentage of the population has been affected are called rare diseases. The rare diseases subject is full of misunderstandings.
Alam, Jamal
core  

Switching from Rituximab to Eculizumab in US Patients with Neuromyelitis Optica Spectrum Disorder: Impact on Hospitalizations

Neurology and Therapy
Introduction Neuromyelitis optica spectrum disorder (NMOSD), a rare autoimmune disease, affects the optic nerves and spinal cord. Rituximab is often used off-label to treat NMOSD; however, comparator-controlled trial data are limited.
Justin Lee, Adrian Kielhorn, Sami Fam, Emily Riser, Eoin P. Flanagan   +4 more
doaj   +1 more source

Increased circulating progranulin is not sufficient to induce cardiac dysfunction or supraventricular arrhythmia

Scientific Reports, 2023
Atrial fibrillation (AF) is the most prevalent cardiac arrhythmia, and the incidence of new-onset AF has been increasing over the past two decades. Several factors contribute to the risk of developing AF including age, preexisting cardiovascular disease,
Kevin E. McElhanon, Tyler C. Huff, Dinesh Hirenallur-Shanthappa, Russell A. Miller, Nicolas Christoforou   +4 more
doaj   +1 more source

Central Nervous System Tumors Among Infants in Canada: A Report From CYP‐C

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Central nervous system (CNS) tumors in infants are rare, pose unique clinical challenges, and lack large‐scale evidence‐based data to guide management. This study seeks to describe CNS tumors in Canadian infants and to compare their outcomes with those of older children.
Samuel Sassine, Hallie Coltin, Sylvia Cheng, Lucie Lafay‐Cousin, Vanan Issai Magimairajan, Craig Erker, Stéphanie Vairy, Lynette Bowes, Adam Fleming, Donna Johnston, Sarah McKillop, Roona Sinha, Julie Bennett, Christina Coleman, Laura Wheaton, Shayna Zelcer, Samuele Renzi, Thai Hoa Tran   +17 more
wiley   +1 more source

Expert Consensus for the Diagnosis and Treatment of Bartter Syndrome in China(2023)

罕见病研究
Bartter syndrome (BS) is a rare inherited salt-losing renal tubular disorder characterized by secondary hyperaldosteronism with hypokalemia and hypochloremic metabolic alkalosis, and normal or low blood pressure.
Chinese Society of Rare Diseases, Rare Diseases Society of Chinese Research Hospital Association, China Alliance for Rare Diseases, Beijing Society of Rare Disease Clinical Care and Accessibility, Bartter Syndrome Consensus Working Group   +4 more
doaj   +1 more source

Impact of Radiation Therapy on Physical and Psychosocial Health of Adolescents and Young Adults: A Joint Report From the Children's Oncology Group AYA and Radiation Oncology Committees

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Rates of cancer among adolescents and young adults (AYA), age 15–39 years, are increasing. Consequently, radiation oncologists are treating more AYAs who have diagnoses spanning both pediatric and adult practices. Compared to pediatric and older adult patients, AYAs face a unique set of challenges.
Hesham Elhalawani, Rachel K. Peterson, Avani D. Rao, Laurie J. McKenzie, Ahmed Magdy Elmotayam, Leslie Chang, Michael Roth, Susan L. McGovern   +7 more
wiley   +1 more source