Results 121 to 130 of about 97,874 (310)

The Behavioral Phenotype and Importance of Multidisciplinary Care in Patients With Sotos Syndrome: A Single‐Center Experience

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Sotos syndrome is an autosomal dominant condition caused by pathogenic variants in the NSD1 gene on chromosome 5q35. It is characterized by macrosomia, distinctive facial features, and developmental delays. Patients are also reported to have a behavioral phenotype including autism spectrum disorder, attention deficit/hyperactivity disorder ...
Aravind Viswanathan, Andrew M. George, Evan R. Hathaway, Carlyn Glatts, Jennifer M. Kalish   +4 more
wiley   +1 more source

Additional file 1: of An open-label prospective randomized multicenter study of intensive versus weekly granulocyte and monocyte apheresis in active crohnâ s disease

, 2015
CONSORT 2010 checklist. (DOC 217 kb)
Yoshimura, Naoki, Yokoyama, Yoko, Matsuoka, Katsuyoshi, Takahashi, Hiroki, Iwakiri, Ryuichi, Yamamoto, Takayuki, Nakagawa, Tomoo, Fukuchi, Takumi, Motoya, Satoshi, Kunisaki, Reiko, Kato, Shingo, Hirai, Fumihito, Yoh Ishiguro, Tanida, Satoshi, Hiraoka, Sakiko, Mitsuyama, Keiichi, Ishihara, Shunji, Tanaka, Shinji, Michiro Otaka, Osada, Taro, Kagaya, Takashi, Suzuki, Yasuo, Nakase, Hiroshi, Hanai, Hiroyuki, Watanabe, Kenji, Nobuhito Kashiwagi, Hibi, Toshifumi   +26 more
openaire   +1 more source

The concurrent association of inflammatory polymyositis and Crohn’s ileo-colitis in a Sri Lankan man: a case report of a rare association and literature review [PDF]

, 2014
BACKGROUND: Crohn’s disease is a relapsing, systemic inflammatory disease affecting the gastrointestinal tract with associated extraintestinal manifestations and immune disorders.
Champa Jayasundara, Nilesh Fenandopulle, Upul Liyanage, Vipula R Bataduwaarachchi   +3 more
core   +1 more source

An International ASXL3 Natural History Study: Deep Phenotypic Analyses Including Detailed Reports of a Milder Phenotype, Novel Associations, and Clinical Recommendations

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Natural History Studies can help inform clinician and caregiver expectations, form the basis of management guidelines, and provide a comparator for therapeutic intervention. In rare conditions, where collection of prospective longitudinal data is untimely and impractical, quasi‐natural history data—from multiple individuals of different ages ...
E. Woods, N. Holmes, A. S. Denommé‐Pichon, M. Vincent, N. Belova, C. Gooch, B. Isidor, C. W. Ockeloen, E. Pavlidou, H. Stewart, V. J. M. Verhoeven, A. Ververi, A. Dixit, A. Sarkar, R. Legg, E. Reid, M. Balasubramanian   +16 more
wiley   +1 more source

Subtherapeutic concentrations of infliximab and adalimumab are associated with increased disease activity in Crohn’s disease

Therapeutic Advances in Gastroenterology, 2018
Background: Low anti-tumor necrosis factor α (TNFα) serum concentrations may result in lack of treatment response in patients with inflammatory bowel disease. We determined the anti-TNFα drug concentrations in patients with inflammatory bowel disease and
Arne Carlsen, Roald Omdal, Kristian Øgreid Leitao, Kjetil Isaksen, Anne Kristine Hetta, Lars Normann Karlsen, Lars Aabakken, Nils Bolstad, David Warren, Knut E.A. Lundin, Tore Grimstad   +10 more
doaj   +1 more source

Efficacy, Safety, Pharmacokinetics, and Immunogenicity of ABBV‐154 in Adults With Glucocorticoid‐Dependent Polymyalgia Rheumatica: A Phase 2, Randomized, Double‐Blind, Placebo‐Controlled Trial

Arthritis &Rheumatology, EarlyView.
Objective An unmet need exists for glucocorticoid‐sparing treatments for patients with polymyalgia rheumatica (PMR). The antibody‐drug conjugate ABBV‐154 comprises adalimumab conjugated to a glucocorticoid receptor modulator. We evaluated ABBV‐154 versus placebo in patients with glucocorticoid‐dependent PMR.
Robert F. Spiera, Valerie Devauchelle‐Pensec, Claire E. Owen, Federico Díaz‐González, Tsutomu Takeuchi, Edit Drescher, Jaclyn Anderson, Dilek Arikan, Ronilda D'Cunha, Julie Parmentier, Denise T. Kruzikas, Weihan Zhao, Yang Yang, Karen Stellpflug, Frank Buttgereit   +14 more
wiley   +1 more source

Paradoxical Activation of Entheseal Myeloid Cells by JAK1 and Tyk2 Inhibitors via Interleukin‐10 Antagonism

Arthritis &Rheumatology, EarlyView.
Objective JAK inhibition (JAKi) is effective in seronegative spondyloarthropathy (SpA) spectrum disorders, but Tyk2 inhibition failed in SpA spectrum ulcerative colitis, and tofacitinib showed minimal benefit in Crohn disease, which highlights the complex role for JAK/STAT signaling in different inflammatory processes.
Sami Giryes, Chi Wong, Charlie Bridgewood, Mark Harland, Ala Altaie, Nicole McDermott, Kerem Abacar, Abhay Rao, Almas Khan, Tristan McMillan, Peter Loughenbury, Robert Dunsmuir, Vishal Borse, Tom Macleod, Dennis McGonagle   +14 more
wiley   +1 more source

Additional file 4: of Circulating cathelicidin levels correlate with mucosal disease activity in ulcerative colitis, risk of intestinal stricture in Crohnâ s disease, and clinical prognosis in inflammatory bowel disease

, 2017
Figure S4. Data analysis of CD clinical activity. Prevalence, sensitivity, specificity, PPV, NPV, and AUC values of ROC curves of LL-37 test alone, CRP test alone, and both in indicating (A) CD clinical remission and (B) moderate or severe CD clinical activity.
Tran, Diana, Jiani Wang, Ha, Christina, Ho, Wendy, S. Mattai, Oikonomopoulos, Angelos, Weiss, Guy, Lacey, Precious, Cheng, Michelle, Shieh, Christine, Mussatto, Caroline, Ho, Samantha, Hommes, Daniel, Hon Koon   +13 more
openaire   +1 more source

Efficacy and Safety of ABBV‐154 for the Treatment of Active Rheumatoid Arthritis: A Phase 2b, Randomized, Placebo‐Controlled Trial

Arthritis &Rheumatology, Accepted Article.
Objective Despite availability of biologics and targeted synthetic disease‐modifying antirheumatic drugs (b/tsDMARDs) to treat rheumatoid arthritis (RA), many patients do not experience optimized disease control. Glucocorticoids are effective but have safety risks.
Frank Buttgereit, Atul Singhal, Alan Kivitz, Edit Drescher, Yoshinori Taniguchi, Rosalía Martínez Pérez, Jaclyn Anderson, Ronilda D'Cunha, Weihan Zhao, Nicholas DeVogel, Julie Parmentier, Romy Christmann, Dilek Arikan, Howard Amital   +13 more
wiley   +1 more source

CROHN’S DISEASE OF THE STOMACH: THE "RAM’S HORN" SIGN [PDF]

, 1975
Jack Farman, David Faegenburg, Serge Dallemand, CLARK-KUO CHEN   +3 more
openalex   +1 more source