Results 41 to 50 of about 352,696 (330)

How are the ancient cystic fibrosis patients? Cystic fibrosis diagnosed over 60 years-old

Respiratory Medicine Case Reports, 2017
Background and aims: To specify the prevalence of patients diagnosed with CF at age of ≥60 year-old and to analyze their characteristics. Patients and methods: Observational study of CF patients which were diagnosed at age ≥60 year-old.
C. Prados, M. Lerín, J.J. Cabanillas, L. Gómez-Carrera, R. Álvarez-Sala, M.T. Martinez, L. Máiz, R.M. Girón, A. Solé, M. Martínez, S. Quirós   +10 more
doaj   +1 more source

Liver‐specific lncRNAs associated with liver cancers

FEBS Open Bio, EarlyView.
Long non‐coding RNAs (lncRNAs) are regulatory molecules with various functions. They are more tissue‐specific than proteins and can be used as potential biomarkers, particularly in cancer diagnostics and prognosis. In this review, we have systematically compiled all lncRNAs with exclusive expression in the human liver, verified their liver specificity ...
Olga Y. Burenina, Roman K. Makarchenko, Maria P. Rubtsova, Olga A. Dontsova   +3 more
wiley   +1 more source

Early life growth patterns persist for 12 years and impact pulmonary outcomes in cystic fibrosis [PDF]

, 2018
BACKGROUND: In children with cystic fibrosis (CF), recovery from growth faltering within 2 years of diagnosis (Responders) is associated with better growth and less lung disease at age 6 years.
Farrell, Philip M., Lai, HuiChuan J., Sanders, Don B., Zhang, Zhumin   +3 more
core   +1 more source

Understanding Contributors of Resilience in Youth With Childhood‐Onset Systemic Lupus Erythematosus Through a Socioecological Lens: A Mixed‐Methods Study

Arthritis Care &Research, EarlyView.
Objective This study aimed to identify themes contributing to resilience in childhood‐onset systemic lupus erythematosus (cSLE), distinguish between profiles of resilience, and examine how they relate to underlying themes and patient characteristics. Methods We conducted a mixed‐methods study of 21 patients with cSLE aged 11 to 19 years at a Canadian ...
Isabella Zaffino, Louise Boulard, Joanna Law, Asha Jeyanathan, Lawrence Ng, Sandra Williams‐Reid, Kiah Reid, Angela Cortes, Eugene Cortes, Ashley Danguecan, Deborah M. Levy, Linda T. Hiraki, Andrea M. Knight   +12 more
wiley   +1 more source

Elexacaftor/Tezacaftor/Ivacaftor Efficacy in a Cohort of Italian Patients with CFTR Rare Mutations

International Journal of Translational Medicine
Background: Cystic Fibrosis is an inherited disorder caused by mutations in the Cystic Fibrosis Transmembrane conductance Regulator (CFTR) gene, encoding a chloride and bicarbonate channel widely expressed in epithelia.
Francesca Lucca, Sonia Volpi, Mirco Ros, Benedetta Fabrizzi, Ilaria Meneghelli, Marica Bordicchia, Francesca Buniotto, Alessia Lancini, Cecilia Brignole, Francesca Pauro, Valentino Bezzerri, Marco Cipolli   +11 more
doaj   +1 more source

Biomaterial Strategies for Targeted Intracellular Delivery to Phagocytes

Advanced Functional Materials, EarlyView.
Phagocytes are essential to a functional immune system, and their behavior defines disease outcomes. Engineered particles offer a strategic opportunity to target phagocytes, harnessing inflammatory modulation in disease. By tuning features like size, shape, and surface, these systems can modulate immune responses and improve targeted treatment for a ...
Kaitlyn E. Woodworth, Neal I. Callaghan, Locke Davenport Huyer   +2 more
wiley   +1 more source

CFTR trafficking mutations disrupt cotranslational protein folding by targeting biosynthetic intermediates

Nature Communications, 2020
Cystic fibrosis (CF) is a lethal genetic disease that is primarily caused by misfolding of the cystic fibrosis transmembrane conductance regulator (CFTR). Here authors show that disease-causing mutations located within the first nucleotide binding domain
Hideki Shishido, Jae Seok Yoon, Zhongying Yang, William R. Skach   +3 more
doaj   +1 more source

Impact of Pancreatitis-Associated Protein on Newborn Screening Outcomes and Detection of CFTR-Related Metabolic Syndrome (CRMS)/Cystic Fibrosis Screen Positive, Inconclusive Diagnosis (CFSPID): A Monocentric Prospective Pilot Experience

International Journal of Neonatal Screening, 2022
Pancreatitis-Associated Protein (PAP)-based Cystic Fibrosis (CF) newborn bloodspot screening (NBS) protocols detect less CFTR-Related Metabolic Syndrome (CRMS)/CF Screen Positive, Inconclusive Diagnosis (CFSPID).
Chiara Bianchimani, Daniela Dolce, Claudia Centrone, Silvia Campana, Novella Ravenni, Tommaso Orioli, Erica Camera, Gianfranco Mergni, Cristina Fevola, Paolo Bonomi, Giovanni Taccetti, Vito Terlizzi   +11 more
doaj   +1 more source

Recent Applications of Mesoporous Silica Nanoparticles in Gene Therapy

Advanced Healthcare Materials, EarlyView.
The review summarizes the synthesis of mesoporous silica nanoparticles (MSNs) with modifiable surface properties, functionalization strategies, mechanism of therapeutic payload release, and current applications in gene therapy, focusing on their capabilities in the targeted delivery of therapeutic nucleic acids, CRISPR‐Cas systems, and other genetic ...
Tamanna Binte Huq, Punnya Anil Kumar Jeeja, Sudip Kumar Dam, Sabya Sachi Das, Juan L. Vivero‐Escoto   +4 more
wiley   +1 more source

Clinical complications in children with false-negative results in cystic fibrosis newborn screening

Jornal de Pediatria, 2022
Objective: To present signs and symptoms and clinical course in cystic fibrosis patients with false-negative newborn screening (CF NBS). Materials and methods: All children presented in this paper were covered by CF NBS.
Katarzyna Zybert, Urszula Borawska-Kowalczyk, Lukasz Wozniacki, Malwina Dawidziuk, Mariusz Ołtarzewski, Dorota Sands   +5 more
doaj