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Hearing Disorders: HELP
Articles by Hal M. Hoffman
Based on 3 articles published since 2010
(Why 3 articles?)
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Between 2010 and 2020, H. M. Hoffman wrote the following 3 articles about Hearing Disorders.
 
+ Citations + Abstracts
1 Review Diagnostic criteria for cryopyrin-associated periodic syndrome (CAPS). 2017

Kuemmerle-Deschner, Jasmin B / Ozen, Seza / Tyrrell, Pascal N / Kone-Paut, Isabelle / Goldbach-Mansky, Raphaela / Lachmann, Helen / Blank, Norbert / Hoffman, Hal M / Weissbarth-Riedel, Elisabeth / Hugle, Boris / Kallinich, Tilmann / Gattorno, Marco / Gul, Ahmet / Ter Haar, Nienke / Oswald, Marlen / Dedeoglu, Fatma / Cantarini, Luca / Benseler, Susanne M. ·Division of Pediatric Rheumatology, Department of Pediatrics, University Hospital Tuebingen, Tuebingen, Germany. · Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey. · Department of Medical Imaging, University of Toronto, Toronto, Ontario, Canada. · Department of Pediatric Rheumatology, Reference Centre for Autoinflammatory Disorders CEREMAI, Bicêtre Hospital, University of Paris SUD, Paris, France. · Translational Autoinflammatory Disease Section, NIAMS/NIH, Bethesda, Maryland, USA. · National Amyloidosis Centre, University College London Medical School, London, UK. · Haematologie, Onkologie und Rheumatologie, Universitaetsklinikum Heidelberg, Heidelberg, Germany. · University of California at San Diego, San Diego, California, USA. · Kinderrheumatologische Ambulanz, Universitaetsklinikum Eppendorf, Hamburg, Germany. · German Center for Pediatric and Adolescent Rheumatology, Garmisch-Partenkirchen, Germany. · Department of Rheumatology, Charité, University Medicine Berlin, Berlin, Germany. · UO Pediatria 2, G. Gaslini Institute, Genoa, Italy. · Istanbul University, Istanbul, Turkey. · Laboratory for Translational Immunology, University Medical Center Utrecht, Utrecht, The Netherlands. · Department of Rheumatology, Boston Children's Hospital, Boston, Massachusetts, USA. · Department of Pediatrics, Harvard Medical School, Boston, Massachusetts, USA. · Rheumatology Unit, Policlinico Le Scotte, University of Sienna, Italy. · Rheumatology, Department of Paediatrics, Alberta Children's Hospital, University of Calgary, Calgary, Alberta, Canada. ·Ann Rheum Dis · Pubmed #27707729.

ABSTRACT: Cryopyrin-associated periodic syndrome (CAPS) is a rare, heterogeneous disease entity associated with

2 Article None 2017

Nakanishi, Hiroshi / Kawashima, Yoshiyuki / Kurima, Kiyoto / Chae, Jae Jin / Ross, Astin M / Pinto-Patarroyo, Gineth / Patel, Seema K / Muskett, Julie A / Ratay, Jessica S / Chattaraj, Parna / Park, Yong Hwan / Grevich, Sriharsha / Brewer, Carmen C / Hoa, Michael / Kim, H Jeffrey / Butman, John A / Broderick, Lori / Hoffman, Hal M / Aksentijevich, Ivona / Kastner, Daniel L / Goldbach-Mansky, Raphaela / Griffith, Andrew J. ·Otolaryngology Branch, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, MD 20892. · Inflammatory Disease Section, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892. · Rheumatology Fellowship and Training Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD 20892. · Rady Children's Hospital and Department of Pediatrics, University of California, San Diego, La Jolla, CA 92093. · Office of the Clinical Director, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, MD 20892. · Radiology and Imaging Sciences, Clinical Center, National Institutes of Health, Bethesda, MD 20892. · Inflammatory Disease Section, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892; kastnerd@mail.nih.gov griffita@nidcd.nih.gov. · Translational Autoinflammatory Disease Studies, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD 20892. · Otolaryngology Branch, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, MD 20892; kastnerd@mail.nih.gov griffita@nidcd.nih.gov. ·Proc Natl Acad Sci U S A · Pubmed #28847925.

ABSTRACT: The NLRP3 inflammasome is an intracellular innate immune sensor that is expressed in immune cells, including monocytes and macrophages. Activation of the NLRP3 inflammasome leads to IL-1β secretion. Gain-of-function mutations of

3 Article Clinical and Molecular Phenotypes of Low-Penetrance Variants of NLRP3: Diagnostic and Therapeutic Challenges. 2017

Kuemmerle-Deschner, J B / Verma, D / Endres, T / Broderick, L / de Jesus, A A / Hofer, F / Blank, N / Krause, K / Rietschel, C / Horneff, G / Aksentijevich, I / Lohse, P / Goldbach-Mansky, R / Hoffman, H M / Benseler, S M. ·University Hospital Tuebingen, Tuebingen, Germany. · Rady Children's Hospital and University of California at San Diego, San Diego, California. · National Institute of Allergy and Infectious Diseases, NIH, Bethesda, Maryland. · Universitaetsklinikum Heidelberg, Heidelberg, Germany. · Charité Medical University, Berlin, Germany. · Clementine-Kinderhospital, Frankfurt, Germany. · Asklepios-Klinik Sankt Augustin, Sankt Augustin, Germany. · National Human Genome Research Institute, NIH, Bethesda, Maryland. · Institute of Laboratory Medicine and Human Genetics, Singen, Germany. · University Hospital Tuebingen, Tuebingen, Germany, and Alberta Children's Hospital, University of Calgary, Calgary, Alberta, Canada. ·Arthritis Rheumatol · Pubmed #28692792.

ABSTRACT: OBJECTIVE: Cryopyrin-associated periodic syndromes (CAPS) result from gain-of-function mutations in the NLRP3 gene, which causes excessive release of interleukin-1β (IL-1β) and systemic inflammation. While pathogenetic NLRP3 variant phenotypes are well-characterized, low-penetrance NLRP3 variants represent a significant clinical challenge. The aims of this study were to determine the clinical phenotype, the in vitro biologic phenotype, and the effect of anti-IL-1 treatment in patients with low-penetrance NLRP3 variants. METHODS: A multicenter study of consecutive symptomatic patients with low-penetrance NLRP3 variants recruited from 7 centers between May 2012 and May 2013 was performed. The observed findings were transferred into a study database, from which they were extracted for analysis. Controls were patients with a known pathogenetic NLRP3 variant. Clinical presentation and CAPS markers of inflammation were captured. Functional assays of inflammasome activation, including caspase 1 activity, NF-κB release, cell death, and IL-1β release, were performed. Treatment effects of IL-1 were determined. Comparisons between low-penetrance and pathogenetic NLRP3 variants were performed. RESULTS: The study included 45 patients, 21 of which were female (47%); 26 of the patients (58%) were children. NLRP3 low-penetrance variants identified in the patients were Q703K (n = 19), R488K (n = 6), and V198M (n = 20). In the controls, 28 had pathogenetic NLRP3 variants. Patients with low-penetrance NLRP3 variants had significantly more fever (76%) and gastrointestinal symptoms (73%); eye disease, hearing loss, and renal involvement were less common. Functional inflammasome testing identified an intermediate phenotype in low-penetrance NLRP3 variants as compared to wild-type and pathogenetic NLRP3 variants. All treated patients responded to IL-1 inhibition, with complete response documented in 50% of patients. CONCLUSION: Patients with low-penetrance NLRP3 variants display a distinct clinical phenotype and an intermediate biologic phenotype, including IL-1β and non-IL-1β-mediated inflammatory pathway activation.