Results 31 to 40 of about 1,553 (193)
Clinical and molecular study of the extracellular matrix protein 1 gene in a spanish family with lipoid proteinosis [PDF]
, 2017 [Background] Lipoid proteinosis (LP) is a rare autosomal recessive disorder characterized by a hoarse voice, variable scarring, and infiltration of the skin and mucosa.
Delgado-Valverde, Mercedes +8 more
core +1 more source
Respiratory Medicine Case Reports, 2022 A man with a history of cancer of the base of the tongue presenting with hemoptysis, recurrent pneumonia and crazy-paving patterns on CT was ultimately diagnosed with lipoid pneumonia, subsequently found to be associated with use of fish oil capsules and
Morten Høy Nielsen +2 more
doaj +1 more source
MedComm, Volume 4, Issue 4, August 2023., 2023 A comprehensive landscape of the applications of NPs and their toxicity on health. Abstract Nanoparticles (NPs) have become one of the most popular objects of scientific study during the past decades. However, despite wealth of study reports, still there is a gap, particularly in health toxicology studies, underlying mechanisms, and related evaluation ...
Lihui Xuan +4 more
wiley +1 more source
Journal of Oral and Maxillofacial Pathology, 2009 Lipoid proteinosis is a rare disorder with autosomal recessive inheritance, characterized by progressive deposition of hyaline material in the skin, mucous membrane, and different organs of the body, resulting in a multitude of clinical manifestations. A 62-year-old male presented with hoarseness of voice since infancy, eyelid beading, and generalized ...
Rao, Roopa Shamsundar +3 more
openaire +4 more sources
Lipoid proteinosis: identification of a novel nonsense mutation c.1246C>T:p.R416X in ECM1 gene from Bangladesh [PDF]
, 2023 Lipoid proteinosis is a rare multisystem genodermatosis inherited as autosomal recessive trait. We report a case of lipoid proteinosis in a 10-year-old boy born to first-degree consanguineous parents presented with marked hoarseness of voice ...
Alam, Md. Jahangir +7 more
core +1 more source
Receptor and secreted targets of Wnt-1/beta-catenin signalling in mouse mammary epithelial cells. [PDF]
, 2005 BackgroundDeregulation of the Wnt/ beta-catenin signal transduction pathway has been implicated in the pathogenesis of tumours in the mammary gland, colon and other tissues. Mutations in components of this pathway result in beta-catenin stabilization and
Ashworth, Alan +2 more
core +3 more sources
Primary pulmonary alveolar proteinosis [PDF]
, 2012 Introduction. Pulmonary alveolar proteinosis is an uncommon disease characterized by the accumulation of surfactant proteins and phospholipids within the alveolar spaces. Acquired disease can be idiopathic (primary) and secondary.
Aćimović Slobodan +5 more
core +1 more source
Urbach-Wiethe disease (lipoid proteinosis)
Indian Journal of Pathology and Microbiology, 2012 Lipoid proteinosis is a rare autosomal recessive disorder of variable severity that may involve the skin, mucous membranes of the upper respiratory tract and internal organs that may display different clinical manifestations based on the site of ...
Ulku Kucuk +5 more
doaj +1 more source
Pulmonary Hypertension and Other Potentially Fatal Pulmonary Complications in Systemic Juvenile Idiopathic Arthritis [PDF]
, 2012 Objective Systemic juvenile idiopathic arthritis (JIA) is characterized by fevers, rash, and arthritis, for which interleukin‐1 (IL‐1) and IL‐6 inhibitors appear to be effective treatments.
Carol A. Wallace +19 more
core +1 more source
Lipoid Proteinosis in a Young Female: A Case Report [PDF]
International Journal of Anatomy Radiology and Surgery, 2017 Lipoid proteinosis or Urbach-Wiethe disease is a rare autosomal recessive disorder. It is characterised by progressive deposition of hyaline substance in the mucous membranes, skin and internal organs.
Veeraputhiran Senthilvelmurugan +2 more
doaj +1 more source