Results 131 to 140 of about 73,107 (244)

Atypical Clinical Course of Griscelli Syndrome Type 2 With Primarily Neurologic Presentation and Adult‐Onset in a 46‐Year‐Old Male

American Journal of Medical Genetics Part A, Volume 200, Issue 8, Page 1850-1855, August 2026.
ABSTRACT Griscelli Syndrome Type 2 (GS2) is a rare autosomal recessive disorder caused by pathogenic mutations in the RAB27A gene. Typically, it is characterized by cutaneous hypopigmentation, immunodeficiency, with or without neurological abnormalities secondary to hemophagocytic lymphohistiocytosis (HLH). Without treatment, GS2 often results in fatal
Dzhoy Papingi, Michael Kutsche, Helena Lichtenfeld, Fanny Kortüm, Angela Abicht, Laura Herrmann, Theresia Herget   +6 more
wiley   +1 more source

A sarcoidosis biológiai terápiája [PDF]

A sarcoidosis egy ismeretlen etiológiájú, több szervet érintő granulomatosus megbetegedés. Incidenciája 1-40/100 000. Főként fiatalokat érint. A szervi érintettségek változó arányban jelentkeznek, amik meghatározzák a betegség súlyosságát, kimenetelét és
Sass, Máté
core  

Multifaceted Roles of Chloroquines in Gastrointestinal Disorders and Beyond

Comprehensive Physiology, Volume 16, Issue 4, August 2026.
Chloroquine (CQ) and hydroxychloroquine (HCQ) modulate lysosomal activity and autophagy, suppressing gastrointestinal inflammation and reshaping pathogenic microbiota. These mechanisms alleviate inflammatory bowel disease, inhibit associated tumor growth, and provide benefits in certain autoimmune and viral conditions.
Sihyun Jeong, Eunsoo Kim, Yong Sung Kim, Eunok Im   +3 more
wiley   +1 more source

Rare and common manifestation of musculoskeletal and sinonasal sarcoidosis: A case report

Radiology Case Reports
Sarcoidosis is a systemic granulomatous disease that can affect multiple organ systems. Although many sarcoidosis patients are asymptomatic, the variable clinical progression of symptomatic patients and the nonspecific presentation make diagnosis ...
Kihyun Kwon, MD, Eric Taub, MD, Brandon Dang, MD, Joseph Dobtsis, MD   +3 more
doaj   +1 more source

Repercussions of Diagnostic Delay in Rare Diseases

Journal of Genetic Counseling, Volume 35, Issue 4, August 2026.
ABSTRACT Rare diseases (RDs) are often subject to diagnostic delays due to their low prevalence, clinical variability, and limited professional awareness. This scoping review aimed to map the literature on these delays, examining their clinical, emotional, and socioeconomic consequences.
Luisa Rezende Batista, Luiza Fernandes Valente, Fernando Spina, Davi Said Gonçalves Celso, Israel Gomy, Christiane Mariotini‐Moura   +5 more
wiley   +1 more source

Management of extrapulmonary sarcoidosis: challenges and solutions [PDF]

, 2016
Khalid Al-Kofahi,1,* Peter Korsten,2,* Christian Ascoli,3 Shanti Virupannavar,4 Mehdi Mirsaeidi,5 Ian Chang,6 Naim Qaqish,7 Lesley A Saketkoo,8 Robert P Baughman,9 Nadera J Sweiss3,4 1Department of Molecular Biosciences, University of Kansas, Lawrence ...
Baughman RP, Virupannavar S, Sweiss NJ, Saketkoo LA, Qaqish N, Ascoli C, Al-Kofahi K, Korsten P, Mirsaeidi M, Chang I   +9 more
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Musculoskeletal involvement in sarcoidosis: A single center experience [PDF]

Objective: Sarcoidosis is a chronic inflammatory disease that affects many organs and systems, especially the lungs, lymph nodes and musculoskeletal system.
Bilgin Karaalioğlu, Rabia Deniz, Kübra Kalkan, Duygu Sevinç Özgür, Cemal Bes, Gül Güzelant Özköse, Burak İnce, Fatih Yıldırım, Gamze Akkuzu   +8 more
core   +1 more source

Pre‐Imaging Clinical Factors Associated With Cardiac MR Image Quality Using Large Language Model‐Enabled Data Extraction

Journal of Magnetic Resonance Imaging, Volume 64, Issue 2, Page 565-578, August 2026.
ABSTRACT Background Poor cardiac MR image quality can prompt repeat examinations and hinder clinical decision‐making. Purpose To evaluate whether pre‐imaging clinical information, extracted using a large language model (LLM), is independently associated with cardiac MR image quality. Study Type Retrospective.
Hong Yu, Masha Bondarenko, Ali Nowroozi, Yoo Jin Lee, Adrian Serapio, Punita Kaveti, Jae Ho Sohn   +6 more
wiley   +1 more source

EVALUATION OF TPEAK-TEND INTERVAL AND TPEAK-END/QT RATIO IN PATIENTS WITH SARCOIDOSIS [PDF]

, 2016
Background: Tp-e interval which represents the interval between the peak and the end of the T-wave on electrocardiogram (ECG), can be used as a marker of transmural dispersion of repolarization.
Karadeniz, Cem, Demir, Melike, Ucsular, Fatma, Karadeniz, Gulistan, Yalniz, Enver   +4 more
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Sarcoidosis and Polymethyl Methacrylate (PMMA) Granulomas following COVID-19 Vaccination (ChAdOx1): Successful Treatment with Tofacitinib

Indian Journal of Dermatology
Sarcoidosis and complications related to fillers have been reported following the COVID-19 vaccination. Additionally, cutaneous sarcoidosis has been observed around polymethyl methacrylate (PMMA) injection sites.
Mayra Ianhez, Hélio A Miot, Lívia VN Caetano, Henrique Moura de Paula, Giselle GS Freire, Pedro PTS Torres   +5 more
doaj   +1 more source