Results 31 to 40 of about 21,441 (140)

Single-Cell Genetic Mapping of Gasdermin Expression Across Immune-Mediated Inflammatory Diseases. [PDF]

FASEB J
This figure illustrates the lineage‐specific causal effects of gasdermin (GSDM) expression on the risk of eight immune‐mediated inflammatory diseases (IMIDs). The analysis, based on single‐cell genetic data, shows how GSDMA, GSDMB, and GSDMD affect disease risk in various immune cell types, highlighting distinct protective or risk‐enhancing roles in ...
Gao X, Guo X, Yin K, Jin X.
europepmc   +2 more sources

Efficacy, safety, and relapse outcomes of MAPK inhibitors in pediatric Langerhans cell histiocytosis: A real‐world study

International Journal of Cancer, EarlyView.
What's new? Mitogen‐activated protein kinase (MAPK) inhibitors are promising treatments for pediatric Langerhans cell histiocytosis (LCH), a rare heterogeneous neoplasm that often affects multiple organ systems. Which MAPK inhibitors are most effective against LCH remains uncertain.
Xue Tang, Jing‐jing Sun, Zhi Wan, Xiao‐yu Jing, Xia Guo, Ju Gao   +5 more
wiley   +1 more source

Multicenter Validation Study of the Clinical Diagnostic Criteria for IgG4‐Related Sclerosing Cholangitis 2020 in Japan

Journal of Hepato-Biliary-Pancreatic Sciences, EarlyView.
ABSTRACT Background The diagnostic performance of clinical diagnostic criteria for IgG4‐related sclerosing cholangitis 2020 (IgG4‐SC2020) has not been fully validated since its proposal as a revision of the 2012 criteria (IgG4‐SC2012). Methods We conducted a multicenter validation study to evaluate the diagnostic performance of IgG4‐SC2020 using ...
Itaru Naitoh, Takahiro Nakazawa, Kensuke Kubota, Takayoshi Nishino, Akira Nakamura, Dai Inoue, Takanori Sano, Kazuhiro Kikuta, Yusuke Kurita, Kazuro Chiba, Tsukasa Ikeura, Hiroyuki Matsubayashi, Takuya Ishikawa, Masaki Kuwatani, Terumi Kamisawa, Ichiro Yasuda, Mitsuhiro Kawano, Atsushi Masamune, Japan Pancreatitis Study Group, Yoko Abe, Atsushi Irisawa, Hiroyuki Tanaka, Eizaburo Ohno, Tatsuru Maruo, Toshiharu Ueki, Rei Suzuki, Tadayuki Takagi, Hiromasa Ohira, Shirou Tanoue, Akio Ido, Takahiro Komori, Kayashima Atsuo, Masayasu Horibe, Eisuke Iwasaki, Masahiro Tsujimae, Yuzo Kodama, Kazushige Uchida, Masayuki Ueno, Kenji Notohara, Shotaro Kakehashi, Nao Fujimori, Eiji Nakatani, Yasuki Hori, Michihiro Yoshida, Hiroki Kawashima, Kazunao Hayashi, Shuji Terai, Kosaku Morimoto, Ryosuke Sato, Kazuyuki Matsumoto, Hironari Kato, Yoshiharu Masaki, Hiroshi Nakase, Toshihiko Arizumi, Atsushi Tanaka, Ryotaro Matusmoto, Tetsuya Takikawa, Ryosuke Tonozuka, Takao Itoi, Kenji Hirano, Nobuhiko Hayashi   +60 more
wiley   +1 more source

Reshaping study design for faster extrapolation‐based drug approval in pediatric inflammatory bowel diseases: An ESPGHAN–NASPGHAN position paper

Journal of Pediatric Gastroenterology and Nutrition, EarlyView.
Abstract Children with inflammatory bowel diseases (IBD) have limited access to the available advanced therapies, given the lengthy gap between adult and pediatric approval. We aimed to review key hurdles for pediatric trials and recommend practical solutions.
Dan Turner, Amit Assa, Mikkel Malham, Shira Yuval Bar‐Asher, Carla Rayan, Jeffrey S. Hyams, Holm H. Uhlig, Brad Pasternak, David C. Wilson, Hilary K. Michel, Lissy de Ridder, Eric Zuckerman, Marina Aloi, Peter Szitanyi, Marla C. Dubinsky, Anne M. Griffiths, Roberto Saldana, Javier Martín‐de‐Carpi, Eytan Wine, Richard K. Russell, Jeremy Adler, Joseph Picoraro   +21 more
wiley   +1 more source

A case of autoimmune hepatitis in a patient with inflammatory bowel disease and significant lymphadenopathy in the porta hepatis

JPGN Reports, EarlyView.
Abstract The diagnosis of autoimmune hepatitis (AIH) is supported by the presence of elevated transaminases, hypergammaglobulinemia, liver biopsy consistent with AIH, and the presence of AIH autoantibodies. In this case presentation, we highlight the challenges associated with diagnosing AIH in a patient with inflammatory bowel disease (IBD) who ...
Benjamin J. Malamet, Shannon Joerger, Karen Caudill, Mai He, Juan Reyes Genere, Janis Stoll   +5 more
wiley   +1 more source

DOCK8 deficiency presenting with sclerosing cholangitis, raised immunoglobulin E, and bronchiectasis: A fatal pediatric case report

JPGN Reports, EarlyView.
Abstract Dedicator of cytokinesis 8 (DOCK8) deficiency is a rare autosomal recessive primary immunodeficiency. Patients with DOCK8 deficiency typically present at early age with allergic manifestations, cutaneous and respiratory infections, raised immunoglobulin E, and they have an increased risk of developing malignancies.
Natalia Nedelkopoulou, Kelechi Ugonna, Stephen Hughes, Sanjay Rajwal, Marumbo Mtegha   +4 more
wiley   +1 more source

Successful endoscopic management of a pediatric intrapancreatic common bile duct stricture following blunt pancreatic trauma: A case report

JPGN Reports, EarlyView.
Abstract Pancreatic and biliary tract injuries from blunt abdominal trauma are rare in children. Common bile duct (CBD) strictures secondary to pancreatic trauma are even more uncommon, and management traditionally involves surgery. We report a 9‐year‐old boy who developed a severe distal intrapancreatic CBD stricture after blunt pancreatic trauma ...
Alexis M. Woida, Bernadette E. Vitola, Diana G. Lerner   +2 more
wiley   +1 more source

Infantile exocrine pancreatic insufficiency due to a homozygous SPINK1 pathogenic variant in two siblings: A case report

JPGN Reports, EarlyView.
Abstract Infantile exocrine pancreatic insufficiency is a rare condition, most often encountered in the context of cystic fibrosis or Shwachman–Diamond syndrome. The SPINK1 gene encodes a trypsin inhibitor protein that prevents the premature activation of digestive enzymes in pancreatic tissue.
France Chalon, Angélique Lhomme, Marie Léonard, Laura Zambelli, Serpil Alkan, Corinne Fasquelle, Aimé Lumaka, Guillaume Debray, Vincent Bours, Julie Frère, Emeline Bequet   +10 more
wiley   +1 more source

Quality of Life in Patients With Variant Syndromes of Autoimmune Liver Diseases—A Cross‐Sectional Multicentre Study [PDF]

Liver Int
ABSTRACT Background & Aims Primary biliary cholangitis (PBC), primary sclerosing cholangitis (PSC) and autoimmune hepatitis (AIH) go along with reduced health‐related quality of life (HRQOL). Variant syndromes, that is, conditions with features of both PBC/PSC and AIH, are associated with higher clinical complexity and worse prognosis. Studies on HRQOL
Uhlenbusch N, Snijders R, Mund M, Janik M, Milkiewicz P, Löwe B, Kroll C, Raszeja‐Wyszomirska J, Gerussi A, Bolis F, Cristoferi L, Invernizzi P, Kovats P, Papp M, Grønbæk L, Grønbæk H, Tjwa E, Aamann L, Ytting H, Ronca V, Olsen K, Oo Y, van der Meer A, Madaleno J, Canhão B, Engel B, Campos‐Murguia A, Taubert R, Koc Ö, Kramer M, Willemse J, Lohse A, Drenth J, Gevers T, Schramm C.   +34 more
europepmc   +2 more sources

Primary (AL) Amyloidosis Following COVID-19 Infection: A Case Report. [PDF]

Clin Case Rep
ABSTRACT Primary (AL) amyloidosis is a rare systemic disorder caused by extracellular deposition of monoclonal immunoglobulin light chains, resulting in multi‐organ dysfunction. SARS‐CoV‐2 infection may induce persistent inflammatory and immune dysregulation, potentially promoting amyloid formation, although clinical evidence is limited, making the ...
Gholami N, Tahsini Tekantapeh S, Khalaji A, Nejati B, Ravaei G.   +4 more
europepmc   +2 more sources