Results 21 to 30 of about 329 (147)

Current development and future perspective of IDH1 inhibitors in cholangiocarcinoma

Liver Cancer International, Volume 3, Issue 1, Page 17-31, February 2022., 2022
Abstract Background and Aims Biliary tract cancer (BTC) represents a major public health problem due to its increasing rates of incidence and mortality, especially the intrahepatic cholangiocarcinoma (IHCCA) subtype. First line palliative systemic treatment with cisplatin and gemcitabine has been the unique level IA evidence option until last few years
Jorge Adeva
wiley   +1 more source

Exome sequencing in patient‐parent trios suggests new candidate genes for early‐onset primary sclerosing cholangitis

Liver International, Volume 41, Issue 5, Page 1044-1057, May 2021., 2021
Abstract BACKGROUND & AIMS Primary sclerosing cholangitis (PSC) is a rare bile duct disease strongly associated with inflammatory bowel disease (IBD). Whole‐exome sequencing (WES) has contributed to understanding the molecular basis of very early‐onset IBD, but rare protein‐altering genetic variants have not been identified for early‐onset PSC.
Sjoukje‐Marije Haisma, Rinse K. Weersma, Maria E. Joosse, Barbara A. E. de Koning, Tim de Meij, Bart G. P. Koot, Wolters V. M., Obbe Norbruis, Mark J. Daly, Christine Stevens, Ramnik J. Xavier, Jukka Koskela, Manuel A. Rivas, Marijn C. Visschedijk, Henkjan J. Verkade, Ruggero Barbieri, Dianne B. H. Jansen, Eleonora A. M. Festen, Patrick F. van Rheenen, Cleo C. van Diemen   +19 more
wiley   +1 more source

Acral papular mucinosis: a new case of this rare entity [PDF]

Anais Brasileiros de Dermatologia, 2016
Acral persistent papular mucinosis (APPM) is a rare subtype of localized lichen myxedematosus. It consists of small papules localized exclusively on the back of the hands, wrists and extensor aspects of distal forearms with no other clinical or ...
María Encarnación Gómez Sánchez, Fernando de Manueles Marcos, Maria Luisa Martínez Martínez, Roberto Vera Berón, Jose Manuel Azaña Défez   +4 more
doaj   +1 more source

Case for diagnosis. Lichen myxedematosus [PDF]

Anais Brasileiros de Dermatologia, 2016
Scleromyxedema or lichen myxedematosus is a rare papular mucinosis of chronic and progressive course and unknown etiology. It is commonly associated with monoclonal gammopathy and may show extracutaneous manifestations, affecting the heart, lung, kidney,
Priscila Regina Orso Rebellato, Mauren Beatriz Frazon Carbonar, Nicole Iasmin Magario Tabuti, Graziela Junges Crescente Rastelli   +3 more
doaj   +1 more source

Cutaneous mucinoses [PDF]

, 1996
Cutaneous mucinoses are a heterogeneous group of disorders in which mucin accumulates in the skin or in the follicles. Mucin is a gelatinous substance composed of glycosaminoglycanes, especially hyaluronic acid and dermatan sulfate bound to small ...
Rebora A, Rongioletti F
core   +4 more sources

Escleromixedema associado a miocardiopatia Scleromyxedema with associated cardiomyopathy

Anais Brasileiros de Dermatologia, 2004
Relato de um caso de escleromixedema com lesões cutâneas associadas a miopatia, disfunção esofageana e paraproteinemia. Durante a evolução, a paciente apresentou sintomas de insuficiência cardíaca congestiva (ICC) que foram relacionados à miocardiopatia,
Gladys Aires Martins, Wadad Gonzaga Abdala, Daniela Velozo de Andrade   +2 more
doaj   +1 more source

Mucinose Folicular: revisão da literatura e relato de um caso Follicular mucinosis: literature review and case report

Anais Brasileiros de Dermatologia, 2002
A mucinose follicular (MuF), também chamada de alopecia mucinosa, é mucinose cutânea caracterizada pelo acúmulo de mucina no folículo pilossebáceo. As mucinoses têm duas formas de apresentação: uma idiopática ou primária, e outra sintomática ou associada
Antônio de Pádua Marques da Fonseca, Sebastião Honório Bona, Wanda Silveira M. da Fonseca, Francisco Soares Campelo, Prisco Medeiros de Melo Rego   +4 more
doaj   +1 more source

Scleromyxedema

JDDG: Journal der Deutschen Dermatologischen Gesellschaft, Volume 18, Issue 12, Page 1449-1467, December 2020., 2020
Summary Scleromyxedema is a rare, cutaneous deposition disorder from the group of mucinoses, which can affect multiple organs and is virtually always associated with a monoclonal gammopathy. Cutaneous manifestations are usually generalized, 2 to 3 mm sized, dome‐shaped or flat‐topped, waxy, slightly red to skin‐colored papules and sclerodermoid ...
Jochen H. O. Hoffmann, Alexander H. Enk
wiley   +1 more source

Pretibial mucinosis in an euthyroid patient [PDF]

Anais Brasileiros de Dermatologia, 2016
A case of exuberant pretibial mucinosis in a patient with normal thyroid function is reported. A review of literature on possible etiologies other than thyroid disease for the accumulation of mucin in the pretibial area is presented.
Laura de Mattos Milman, Aline Barcellos Grill, Giana Paula Müller, Damiê De Villa, Paulo Ricardo Martins Souza   +4 more
doaj   +2 more sources

Scleredema associated with Sjögren’s syndrome [PDF]

Anais Brasileiros de Dermatologia, 2015
Scleredema adultorum of Buschke is a rare disorder characterized by diffuse swelling and non-pitting induration of the skin usually involving the face, neck, arms and upper trunk.
João Alves, Tiago Judas, Tiago Ferreira, Diogo Matos, Elvira Bártolo   +4 more
doaj   +2 more sources