Results 81 to 90 of about 1,553 (193)

Lipoid Proteinosis: Case Report and Review Literature

Siriraj Medical Journal, 2014
Lipoid proteinosis is a rare autosomal recessive deposition disorder due to mutation in the extracellular matrix protein 1 gene. Until now, there were only 300 cases reported in literature. Moreover, case reports in Thailand are limited.
Charussri Leeyaphan
doaj  

Bilateral selective amygdala calcifications: lipoid proteinosis

Journal of the Belgian Society of Radiology, 2013
A 14-year-old boy presented with progressive skin and mucous membrane changes including multipl papules on the eyelid margins. His parents also noted hoarseness since early childhood. His rashes emerged first when he was 1-month-old and healed by leaving
C Yilmaz, B Gulek, E Çenesizoglu, Ö Kaya, G Söker, A Hursit Ispir   +5 more
doaj   +1 more source

Similarities and differences of interstitial lung disease associated with pathogenic variants in SFTPC and ABCA3 in adults

Respirology, Volume 29, Issue 4, Page 312-323, April 2024.
We report the characteristics and follow‐up data of 36 adult patients in France with ILD associated variant(s) in SFTPC or ABCA3. SFTPC and ABCA3‐associated ILD present with a distinct phenotype and prognosis. A radiologic pattern of fibrosing ILD with ground‐glass opacities and/or cysts is frequently found in these rare conditions. Abstract Background
Rémi Diesler, Marie Legendre, Salim Si‐Mohamed, Pierre‐Yves Brillet, Lidwine Wemeau, Effrosyni D. Manali, Frédéric Gagnadoux, Sandrine Hirschi, Gwenaël Lorillon, Martine Reynaud‐Gaubert, Vanessa Bironneau, Elodie Blanchard, Arnaud Bourdin, Stéphane Dominique, Aurélien Justet, Julie Macey, Sylvain Marchand‐Adam, Hélène Morisse‐Pradier, Hilario Nunes, Spyros A. Papiris, Julie Traclet, Ibrahim Traore, Bruno Crestani, Serge Amselem, Nadia Nathan, Raphaël Borie, Vincent Cottin, the OrphaLung network, Rola Abou Taam, Julien Bermudez, Philippe Bonniaud, Alexandre Brudon, Pierrick Cros, Céline Delestrain, Ralph Epaud, Helen Fouquet, Anne Gondouin, Alice Hadchouel Duverge, Stéphane Jouneau, Karine Juvin, Jérôme Le Pavec, Jean‐Claude Meurice, Mouhamad Nasser, Jean Pastre, Clément Picard, Mathilde Provost, Adrien Tissot, Yurdagul Uzunhan, Dominique Valeyre   +48 more
wiley   +1 more source

Lipoid proteinosis: A rare congenital genodermatosis

Journal of Dr. NTR University of Health Sciences, 2017
Lipoid proteinosis or Urbach–Wiethe disease is a very rare autosomal recessive disease. The term was first coined by Urbach. This disorder is characterized by intercellular deposition of periodic-acid Schiff-positive amorphous hyaline material in the ...
Mitali Madhumita Rath, Pranita Mohanty
doaj   +1 more source

Exogenous lipoid pneumonia induced by nasal instillation of paraffin oil [PDF]

, 2020
Lipoid pneumonia is a rare pulmonary disease, classified in terms of the source of lipid exposure into two variants: exogenous and endogenous. We present a patient with exogenous lipoid pneumonia, acquired after chronic exposure to paraffin oil ...
Bartosiewicz, Małgorzata, Dybowska, Małgorzata, Lewandowska, Katarzyna, Radwan-Rohrenschef, Piotr, Sobiecka, Małgorzata, Szturmowicz, Monika, Tomkowski, Witold, Zimna, Katarzyna   +7 more
core   +2 more sources

Exploring protein–protein interactions and oligomerization state of pulmonary surfactant protein C (SP‐C) through FRET and fluorescence self‐quenching

Protein Science, Volume 33, Issue 1, January 2024.
Abstract Pulmonary surfactant (PS) is a lipid–protein complex that forms films reducing surface tension at the alveolar air–liquid interface. Surfactant protein C (SP‐C) plays a key role in rearranging the lipids at the PS surface layers during breathing.
Mishelle Morán‐Lalangui, Ana Coutinho, Manuel Prieto, Alexander Fedorov, Jesús Pérez‐Gil, Luís M. S. Loura, Begoña García‐Álvarez   +6 more
wiley   +1 more source

Lipoid Proteinosis Beyond the Skin: Unmasking its Oral Presentation

Journal of Multidisciplinary Dental Research
Lipoid proteinosis (LP) is a rare congenital disorder marked by hyaline material accumulation in various organs, with only about 400 cases reported.
Abrielle K Lamphere
doaj   +1 more source

Update of the International Multidisciplinary Classification of the Interstitial Pneumonias: An ERS/ATS Statement [PDF]

Background: The 2013 American Thoracic Society/European Respiratory Society Statement on the classification of the idiopathic interstitial pneumonias described 6 major and 2 rare subtypes of idiopathic interstitial pneumonia, as well as recognizing ...
Amita Sharma, Andrew G Nicholson, Athol U. Wells, Aurelie Fabre, Ayodeji Adegunsoye, Christopher J. Ryerson, Claudia Ravaglia, Elisabetta A. Renzoni, Ella Kazerooni, Katerina Antoniou, Kerri Johannson, Leticia Kawana-Dourado, Lida P. Hariri, Marlies S. Wijsenbeek, Nicola Sverzellati, Paul Wolters, Philip L. Molyneaux, Raphael Borie, Raymond Protti, Ryoko Saito-Koyama, Sara Piciucchi, Simon L. F. Walsh, Soo-Ryum Yang, Takeshi Johkoh, Toby M. Maher, Wendy A. Cooper, William Travis, Yet H. Khor, Yoshikazu Inoue   +28 more
core   +1 more source

Social and economic decision-making in Urbach-Wiethe Disease [PDF]

, 2020
Background: Rodent and primate research have identified the basolateral amygdala as indispensable for social decision-making. This finding has not yet been translated to humans, and has even been partially contradicted by previous findings in patients ...
Fourie, Jorique
core   +1 more source

Urbach-Wiethe Syndrome and the Ophthalmologist: Review of the Literature and Introduction of the First Instance of Bilateral Uveitis [PDF]

, 2012
Patients suffering from Urbach-Wiethe syndrome (UWS), also known as lipoid proteinosis or hyalinosis cutis et mucosae, may have an ophthalmologist involved in the diagnosis and management of their disease.
Arash Zahed, Farzan Kianersi, Hamid-Reza Fesharaki, Mehdi Mazloumi, Mohammad-Ali Abtahi, Saeed Naghiabadi, Seyed-Hossein Abtahi, Seyed-Mojtaba Abtahi, Shahzad Baradaran, Zahra-Alsadat Abtahi   +9 more
core   +2 more sources