Results 91 to 100 of about 4,832 (184)

Genetic Testing Utilization in the U.S. Registry for Childhood Interstitial and Diffuse Lung Diseases

Pediatric Pulmonology, Volume 60, Issue 4, April 2025.
ABSTRACT Introduction Childhood interstitial and diffuse lung diseases (chILD) comprise a diverse group of rare disorders. Identifying the underlying cause is crucial for treatment, prognosis, and estimating recurrence risk. The objective of this study was to assess the utilization of genetic testing for subjects enrolled in the United States National ...
Laura A. Voss, Rebekah J. Nevel, Jennifer A. Wambach, Lawrence M. Nogee, Robin R. Deterding, Alicia M. Casey, Michael G. O'Connor, Daniel I. Craven, Jane B. Taylor, Gail H. Deutsch, Jade B. Tam‐Williams, Lea C. Steffes, Steven K. Brennan, Maria T. Santiago, Sara C. Sadreameli, Andrea F. Heras, Michael R. Powers, Antonia P. Popova, Manvi Bansal, Aaron Hamvas, William A. Gower, Fernando Urrego, Lisa R. Young, for The ChILD Registry Collaborative   +23 more
wiley   +1 more source

Systematic review: macrophage activation syndrome in inflammatory bowel disease [PDF]

, 2013
BACKGROUND: Recently, there have been increasingly frequent reports on the occurrence of macrophage activation syndrome (MAS) in patients with inflammatory bowel disease (IBD).
CASCIO, ANTONIO, COTTONE, Mario, Fries W
core   +1 more source

An update on autophagy disorders

Journal of Inherited Metabolic Disease, Volume 48, Issue 1, January 2025.
Abstract Macroautophagy is a highly conserved cellular pathway for the degradation and recycling of defective cargo including proteins, organelles, and macromolecular complexes. As autophagy is particularly relevant for cellular homeostasis in post‐mitotic tissues, congenital disorders of autophagy, due to monogenic defects in key autophagy genes ...
Hormos Salimi Dafsari, Diego Martinelli, Afshin Saffari, Darius Ebrahimi‐Fakhari, Manolis Fanto, Carlo Dionisi‐Vici, Heinz Jungbluth   +6 more
wiley   +1 more source

Pancreatic Involvement in Hermansky–Pudlak Syndrome- A Case Report [PDF]

, 2019
Hermansky-Pudlak Syndrome (HPS) is a rare autosomal recessive disorder that presents with oculocutaneous albinism, bleeding disorders, and immunodeficiency. Granulomatous colitis and pulmonary fibrosis are two major complications of this syndrome.
Awan, Bilal, Iqbal, Aqsa, Khan, Aslam, Kumar, Vinesh, Nawaz, Abid, Shaikh, Safia, Shaukat, Nauman   +6 more
core   +2 more sources

Hermansky–Pudlak syndrome with interstitial lung disease: A holistically worked up couplet

Lung India, 2019
Hermansky-Pudlak syndrome (HPS) is an extremely subtile autosomal recessive disorder characterized by tyrosinase-positive oculocutaneous albinism (Ty-pos OCA), bleeding tendencies, and systemic complications associated to lysosomal dysfunction.
Abhishek Gupta, Ketaki Utpat, Unnati Desai, Jyotsna M Joshi   +3 more
doaj   +1 more source

Hermansky‐Pudlak syndrome [PDF]

British Journal of Haematology, 2007
Mark, Walker, Jeanette, Payne, Bart, Wagner, Ajay, Vora   +3 more
openaire   +2 more sources

The Hermansky–Pudlak Syndrome

Medicine, 1985
Three Puerto Rican siblings with the Hermansky-Pudlak syndrome are described, and the literature on this syndrome is reviewed with regard to clinical factors, pathology, pathophysiology, and management of the disorder. The three patients all manifested oculocutaneous albinism and platelet storage pool disease with a moderate bleeding tendency.
RONALD A. DEPINHO, KAREN L. KAPLAN
openaire   +1 more source

Expanded carrier screening: A current perspective [PDF]

, 2018
Prenatal carrier screening has expanded to include a large number of genes offered to all couples considering pregnancy or with an ongoing pregnancy.
Al-Kouatly, Hb, Berghella, V, Carbone, Luigi, D'Alessandro, P, De Vivo, V, Esposito, G, Giuliani, Arduino, Maruotti, Gm, Mastantuoni, Enrica, Paternoster, M, Raffone, A, Saccone, G, Zullo, F.   +12 more
core   +1 more source

Modeling Neural Crest Induction, Melanocyte Specification, and Disease-Related Pigmentation Defects in hESCs and Patient-Specific iPSCs

Cell Reports, 2013
Melanocytes are pigment-producing cells of neural crest (NC) origin that are responsible for protecting the skin against UV irradiation. Pluripotent stem cell (PSC) technology offers a promising approach for studying human melanocyte development and ...
Yvonne Mica, Gabsang Lee, Stuart M. Chambers, Mark J. Tomishima, Lorenz Studer   +4 more
doaj   +1 more source

Two patients with Hermansky Pudlak syndrome type 2 and novel mutations in AP3B1

Haematologica, 2010
Hermansky Pudlak syndrome type 2 (HPS2) is a rare disorder associated with mutations in the Adaptor Protein 3 (AP-3) complex, which is involved in sorting transmembrane proteins to lysosomes and related organelles. We now report 2 unrelated subjects with
Matt Wenham, Samantha Grieve, Michelle Cummins, Matthew L. Jones, Sarah Booth, Rachel Kilner, Philip J. Ancliff, Gillian M. Griffiths, Andrew D. Mumford   +8 more
doaj   +1 more source