Results 61 to 70 of about 1,965 (163)

Multiorgan Molecular Landscape of Severe COVID‐19 Revealed by Consensus Gene Signatures and RAB8B Targeting

Journal of Medical Virology, Volume 98, Issue 4, April 2026.
ABSTRACT Severe COVID‐19 involves hyperinflammation and multiorgan pathology, but consistent gene signatures remain elusive. We aimed to identify consensus transcriptomic signatures and molecular mechanisms in severe COVID‐19. We performed an integrative analysis of 39 studies spanning 11 tissue types, 1551 bulk RNA‐seq samples, and over 2 million ...
Jonathan Peña Avila, Peter Park, Youvika Singh, Paulo P. Amaral, Ícaro Castro, Felipe Ten‐Caten, Viviane Schuch, André N. A. Gonçalves, Jeevan Giddaluru, Mauro César Cafundó Morais, Rodrigo L. T. Ogava, Thiago Lubiana, Gabriel Amoroso de Castro, Rodrigo Aquino, Luiz Durão, Júlia Raspante Martins, Leandro Jimenez, André G. Costa‐Martins, Patrícia Gonzalez‐Dias, Thiago Dominguez Crespo Hirata, Thomaz Lüscher Dias, Débora Guerra Peixe, Adriana Simizo, Juan Carlo Santos e Silva, Amanda Pereira Vasconcelos, Marcelo Berçot Rodrigues, Bianca G. Castelucci, João Victor Virgillio‐da‐Silva, Larissa Menezes, Pedro M. Moraes‐Vieira, Otavio Cabral‐Marques, Helder I. Nakaya   +31 more
wiley   +1 more source

Demographic characteristics of 16 patients with mucopolysaccharidoses.

, 2015
*Disease classification/severity defined as MPS I—Hurler, Hurler-Scheie, Scheie; MPS II—severe = neuronopathic, attenuated = non-neuronopathic.Demographic characteristics of 16 patients with mucopolysaccharidoses.
Beata Kieć-Wilk (5663302), Agnieszka Lembas (731774), Anna Tylki-Szymańska (508670), Agnieszka Jurecka (508669), Agnieszka Różdżyńska-Świątkowska (508668), Agata Migas-Majoch (731773), Zbigniew Żuber (508667)   +6 more
core   +1 more source

Shared Gene Expression Dysregulation Across Subtypes of Sanfilippo and Morquio Diseases: The Role of PFN1 in Regulating Glycosaminoglycan Levels

Frontiers in Bioscience-Landmark
Background: Mucopolysaccharidosis (MPS) is a class of hereditary metabolic diseases that demonstrate itself by accumulating incompletely degraded glycosaminoglycans (GAGs).
Karolina Wiśniewska, Magdalena Żabińska, Lidia Gaffke, Aneta Szulc, Beata M. Walter, Grzegorz Węgrzyn, Karolina Pierzynowska   +6 more
doaj   +1 more source

Racial and Ethnic Disparities in Care for Pediatric Sleep‐Disordered Breathing

OTO Open, Volume 10, Issue 2, April-June 2026.
Abstract Objective Obstructive sleep disordered breathing is the most common indication for pediatric tonsillectomy in the United States, but there are barriers to specialty care that may contribute to disparities in tonsillectomy use. This study examined the association between race, ethnicity, urban/rural residence, and other factors in access to ...
Colleen C. McLaughlin, Jesse L. Hawke, Emily F. Boss, Guy M. Brock, Meredith M. Lind, Tasleem J. Padamsee, Prasanth Pattisapu, Deena J. Chisolm, Laura J. Chavez   +8 more
wiley   +1 more source

FUNCTIONAL INDEPENDENCE OF PEDIATRIC PATIENTS WITH MUCOPOLYSACCHARIDOSES

, 2019
Objective: To measure the functional independence to perform activities of daily living of pediatric patients diagnosed with mucopolysaccharidoses. Methods: A descriptive cross-sectional study was carried out with the population of pediatric patients ...
Diógenes Pires Serra Filho (7142108), Marcos Antônio Almeida Matos (7142111), Paloma Silva Lopes (7142105)   +2 more
core   +1 more source

Intrathecal idursulfase‐IT in children younger than 3 years with neuronopathic mucopolysaccharidosis II in a single‐arm, open‐label, phase 2/3 substudy and extension

JIMD Reports, Volume 67, Issue 2, March 2026.
Abstract Data from a phase 2/3, randomized, controlled, open‐label, multicenter trial in children with neuronopathic mucopolysaccharidosis II (MPS II; Hunter syndrome) older than 3 years suggested a benefit of intrathecal idursulfase‐IT on cognitive functioning in some patients. We describe a separate, parallel, open‐label, single‐arm, 52‐week substudy
Joseph Muenzer, Barbara K. Burton, Paul Harmatz, Luis González Gutiérrez‐Solana, Matilde Ruiz‐Garcia, Simon A. Jones, Nathalie Guffon, Michal Inbar‐Feigenberg, Drago Bratkovic, Stewart Rust, Michael Hale, Yuna Wu, Karen S. Yee, David A. H. Whiteman, David Alexanderian   +14 more
wiley   +1 more source

Early diagnosis of mucopolysaccharidoses in developing countries: A low cost and easy execution approach. [PDF]

, 2017
Clin Chim Acta. 2017 Feb 28;468:150-151. doi: 10.1016/j.cca.2017.02.020. [Epub ahead of print] Early diagnosis of mucopolysaccharidoses in developing countries: A low cost and easy execution approach.
Monachesi, C, Carlo Catassi, Lucia Padella, Galeazzi, Tiziana, Rigon, L, Coppa, Giovanni Valentino, Carnielli, Virgilio Paolo, Nicola Volpi, Laura Rigon, Carnielli, Vp, Tiziana Galeazzi, Orazio Gabrielli, Santoro, L, Coppa, Gv, MONACHESI, Chiara, FIUMARA, AGATA, Agata Fiumara, Gabrielli, O, Concolino, D, Zampini, L, Concolino, Daniela, Rita Lucia Marchesiello, Lucia Santoro, VOLPI, Nicola, Andrea Giovagnoni, Chiara Monachesi, Gabrielli, Orazio, Mazzoli, Milena, Fiumara, A, SANTORO, LUCIA, Lucia Zampini, Marchesiello, Rl, ZAMPINI, LUCIA, Galeazzi, T, Marchesiello, Rita Lucia, Giovagnoni, Andrea, Giovagnoni, A, Giovanni Valentino Coppa, Virgilio Paolo Carnielli, Milena Mazzoli, Mazzoli, M, PADELLA, LUCIA, Daniela Concolino, Catassi, C, RIGON, LAURA, Padella, L, Catassi, Carlo   +46 more
core   +1 more source

Once in a Blue Moon, a Very Rare Coexistence of Glutaric Acidemia Type I and Mucopolysaccharidosis Type IIIB in a Patient

Iranian Biomedical Journal, 2020
Background: Glutaric acidemia (GAI) and mucopolysaccharidosis type IIIB (MPSIIIB) are two rare genetic disorders caused by pathogenic variants in two different genes.
Mohammad Reza Alaei, Meghdad Kheirkhahan, Saeed Talebi, Elham Davoudi-Dehaghani, Mohammad Keramatipour   +4 more
doaj  

Alkaline Phosphatase and Infantile GM1 Gangliosidosis: A Simple Biomarker for a Complex Disease?

JIMD Reports, Volume 67, Issue 2, March 2026.
ABSTRACT GM1 gangliosidosis is a lysosomal storage disease (LSD) caused by β‐galactosidase deficiency, characterized by the accumulation of gangliosides in various tissues. Among different GM1 forms (infantile form, late‐infantile and juvenile form, and late‐onset form), the infantile form is the most severe: despite an early clinical onset with rapid ...
Laura Fiori, Massimiliano Turzi, Veronica Maria Tagi, Laura Asnaghi, Eleonora Bonaventura, Davide Tonduti, Luigina Spaccini, Laura Assunta Saielli, Chiara Montanari, Francesca Cairello, Savina Mannarino, Matilde Ferrario, Alessandra Del Longo, Marcello Napolitano, Andrea Righini, Michela Semeraro, Anna Venerando, Martina Miceli, Elvira Verduci, Gianvincenzo Zuccotti   +19 more
wiley   +1 more source

Special airway concerns in patients with mucopolysaccharidoses [PDF]

, 2007
SummaryThe mucopolysaccharidoses are comprised of hereditary disorders joined by errant degradation of mucopolysaccharides. The relatively infrequent opportunity to care for these patients is evidenced by a fairly small number of case reports and ...
Steven Sims, H., Kempiners, James J.
core   +1 more source