Results 1 to 10 of about 5,633,351 (163)

Targeted proteomics reveal histiocytosis-associated neurodegeneration signatures. [PDF]

Hemasphere
Abstract Neurodegeneration (ND) is a severe complication of Langerhans cell histiocytosis (LCH), yet its underlying biology and reliable biomarkers remain poorly defined. The aim of this study was to (1) gain insight into neuroimmunological mechanisms governing ND and (2) assess the clinical value of established and novel biomarkers for ND‐LCH.
Kvedaraite E, Lourda M, Munting JB, Papo M, Jädersten M, Shioda Y, Sakamoto K, Muñoz DM, Andriopoulos P, Pegoraro F, Laurencikas E, Kühnle I, Wille J, Naeije L, Olkinuora H, Sinha I, Hagey DW, Olsson-Åkefeldt S, Cohen-Aubart F, Österlundh G, Svensson M, Idbaih A, Piehl F, Blennow K, Zetterberg H, von Bahr TG, Gavhed D, Morimoto A, Haroche J, Henter JI.   +29 more
europepmc   +2 more sources

An Overlap of Erdheim–Chester Disease and Rosai–Dorfman Disease With Isolated Bone Lesions Presenting a Diagnostic Challenge: A Case Report [PDF]

Clin Case Rep
ABSTRACT Some of the rarest diseases with cell accumulation in different organs are histiocytoses. Since these diagnoses are uncommon, other differential diagnoses must be excluded. We report a case of a 42‐year‐old man with episodes of knee pain and fever.
Tulk M, Kuuse R, Zagura M, Ali H, Vahesaar L.   +4 more
europepmc   +2 more sources

MEK inhibition achieves robust and durable responses in Erdheim–Chester disease [PDF]

Hemasphere
Abstract Erdheim–Chester disease (ECD) is a rare histiocytic neoplasm characterized by heterogeneous clinical manifestations and limited evidence to guide targeted therapy. While MEK inhibitors (MEKi) are increasingly used, data on their real‐world efficacy, durability, and safety remain incomplete.
Pegoraro F, Triboulet F, Papo M, Peyronel F, Argentieri A, Razanamahery J, Idbaih A, Makras P, Shpilberg O, Hershkovitz‐Rokah O, Girschikofsky M, Collin M, Bowles K, Gohil S, Amerikanou R, Ledoult E, Le Scornet T, de Menthon M, Riviere E, Boulu X, Dupuy H, Aouba A, Faguer S, Solanich X, Sieni E, Barete S, Bellino C, Tomelleri A, Campochiaro C, Dagna L, Amoura Z, Emile J, Cohen‐Aubart F, Vaglio A, Haroche J.   +34 more
europepmc   +2 more sources

Progressive Cerebellar Dysfunction, Pituitary Insufficiency, and Severe Skeletal Fragility in Adult Survivorship of Childhood Multisystem Langerhans Cell Histiocytosis: A Case Report. [PDF]

Clin Case Rep
ABSTRACT Childhood‐onset multisystem Langerhans cell histiocytosis can lead to delayed adult morbidity involving the neurologic, hypothalamic–pituitary, and skeletal systems. Progressive cerebellar dysfunction, chronic pituitary insufficiency, and severe skeletal fragility may emerge years after apparent disease control, underscoring the need for ...
Alnahar S, Senjab A, Gharib S, Gharib Z, Hadid L.   +4 more
europepmc   +2 more sources

Histiocytosis development and clinical variation through the lens of genomics. [PDF]

J Pathol
Abstract Histiocytic neoplasms are rare haematologic diseases characterised by clonal expansions of cells with a monocyte, macrophage or dendritic cell phenotype. Their clinical manifestations are diverse, ranging from indolent lesions to aggressive systemic disease.
Kemps PG, van Halteren AG, van Wezel T, Hogendoorn PC.   +3 more
europepmc   +2 more sources

Langerhans cell histiocytosis (histiocytosis X) [PDF]

Postgraduate Medical Journal, 1997
Summary There has been a renewed interest in Langerhans cell histiocytosis in recent years due both to advances in basic research and to improvements in diagnostic and treatment approaches. In this article, we review the various aspects of the disease and the potential implications of these recent scientific researches for our ...
K Y Lam, Lam, KY
openaire   +5 more sources

Outcome of treatment with trametinib in adults with histiocytic neoplasms in the United Kingdom. [PDF]

Br J Haematol
Trametinib (MEK inhibitor) shows efficacy in refractory and high‐risk adult histiocytic neoplasms. At a median follow‐up of 21.4 months, the clinical response rate was 81% (30/37) and the radiological response was 68% (25/37) (n = 37).
Amerikanou R, Munir T, Bowles K, McNamara C, Chavda N, Price E, Adiyodi J, Coles A, Kelsey P, Smith J, Adams R, Hussein H, Zhao R, Nguyen T, Collin M, Gohil S.   +15 more
europepmc   +2 more sources

A nationwide multicenter observational study on childhood scurvy in Japan

Journal of Pediatric Gastroenterology and Nutrition, EarlyView.
Abstract Objectives Although scurvy is rare in developed countries, cases in children with selective diets due to neurodevelopmental disorders have been increasingly reported in Japan. In this nationwide multicenter observational study, we aimed to clarify the clinical characteristics and diagnostic challenges faced by children with scurvy in Japan ...
Yu Masuda, Ryohei Fukatsu, Ryosuke Miyamoto, Hitoshi Honma, Yoshinori Ito, Hiromichi Shoji, Masanobu Kawai, Yuri Etani, Toshiaki Shimizu, Akihisa Okumura   +9 more
wiley   +1 more source

Cutaneous Rosai‐Dorfman Disease With MAP2K1 Mutation Treated With Encorafenib and Binimetinib

JEADV Clinical Practice, EarlyView.
ABSTRACT Rosai‐Dorfman disease (RDD) is a rare histiocytic disorder with unifocal to multisystemic involvement. Activating mutations in the MAPK/ERK pathway can occur in up to 50% of RDD cases. We report a case of cutaneous RDD (C‐RDD) with facial and truncal lesions harboring an activating MAP2K1 (MEK1) mutation that showed a complete response to a ...
Melike Ak, Reinhard Dummer, Egle Ramelyte   +2 more
wiley   +1 more source

Tattoo Inflammation With Uveitis: From Recognition to Definition

Clinical &Experimental Ophthalmology, EarlyView.
ABSTRACT Tattoo inflammation with uveitis (TIU) is increasingly recognised but growing case numbers have revealed substantial heterogeneity. Patients currently classified as TIU appear to include those with overt or evolving systemic sarcoidosis as well as those with isolated, pigment‐associated ocular inflammation.
Anthea Anantharajah, Nicolas Kluger, Anthony J. H. Hall, Michelle Sharp, Jennifer E. Thorne, Lyndell L. Lim   +5 more
wiley   +1 more source