Article
Pediatrics
Qiyu Li, Siyuan Liu, Xuemei Ma, Jiaping Yu
Summary: This meta-analysis evaluated the effectiveness and safety of small molecule therapy in children diagnosed with cystic fibrosis (CF). The results showed that CFTR modulators can improve respiratory function, lung clearance index, sweat chloride concentration, and other aspects of function in children with CF, with comparable adverse events compared to the placebo group.
FRONTIERS IN PEDIATRICS
(2022)
Review
Pharmacology & Pharmacy
Yizi Wang, Bin Ma, Wenya Li, Peiwen Li
Summary: Triple combination therapy for cystic fibrosis patients achieves better clinical results and comparable adverse events compared to the control group.
FRONTIERS IN PHARMACOLOGY
(2022)
Article
Medicine, General & Internal
Lotte Vanherle, Darcy Lidington, Franziska E. Uhl, Saskia Steiner, Stefania Vassallo, Cecilia Skoug, Joao M. N. Duarte, Sangeetha Ramu, Lena Uller, Jean-Francois Desjardins, Kim A. Connelly, Steffen-Sebastian Bolz, Anja Meissner
Summary: Our study investigated the mechanisms that alter hippocampal neurons following myocardial infarction (MI) and explored the therapeutic potential of correcting cystic fibrosis transmembrane regulator (CFTR) as an intervention. We found that MI leads to reduced hippocampal dendrite length and spine density, which is associated with decreased neuronal CFTR expression and inflammatory responses. Blocking CFTR activity down-regulates synaptic regulator PSD-95 expression in neurons, while pharmacologically correcting CFTR expression rescues the down-regulation. Increasing hippocampal neuron CFTR expression improves MI-associated alterations in neuronal structure and memory function. These findings suggest that CFTR therapeutics can attenuate cognitive impairment in heart failure patients.
Review
Biochemistry & Molecular Biology
Laura Carrasco-Hernandez, Esther Quintana-Gallego, Carmen Calero, Rocio Reinoso-Arija, Borja Ruiz-Duque, Jose Luis Lopez-Campos
Summary: The role of CFTR in the pathophysiology of COPD is becoming increasingly important, with its dysfunction leading to thicker and more viscous secretions in the airway, reduced mucociliary clearance, and promotion of airway inflammation. Studying CFTR in the context of COPD pathogenesis is crucial for a comprehensive understanding of COPD's complex pathophysiology and exploring potential therapeutic approaches to address this dysfunction.
Article
Pediatrics
Maryann R. R. Rehani, Mary S. S. Marcus, Anne B. B. Harris, Philip M. M. Farrell, Clement L. L. Ren
Summary: There are wide variations in CF newborn screening algorithms among different states in the United States, which may result in disparities in CF diagnosis among different racial and ethnic groups. This highlights the need for quality improvement in CF newborn screening.
PEDIATRIC PULMONOLOGY
(2023)
Article
Immunology
Franziska E. Uhl, Lotte Vanherle, Anja Meissner
Summary: Heart failure (HF) affects 64 million people worldwide. Pulmonary manifestations of HF, including lung inflammation and vascular structure changes, contribute to the poor quality of life for many HF patients. This study investigates the role of cystic fibrosis transmembrane regulator (CFTR) in lung inflammation during HF and suggests that pharmacological correction of CFTR expression could alleviate HF-associated lung inflammation.
FRONTIERS IN IMMUNOLOGY
(2022)
Article
Critical Care Medicine
Pierre-Regis Burgel, Esperie Burnet, Lucile Regard, Clemence Martin
Summary: Cystic fibrosis (CF) is a genetic disease that affects the digestive and respiratory systems. Advances in disease management have significantly improved the prognosis, but there are still disparities in prognosis based on access to specialized care. The article describes the evolution of CF demographics, predicts future trends, and discusses the importance of specialized adult CF care.
Editorial Material
Endocrinology & Metabolism
Philip M. Farrell
Summary: This commentary summarizes the author's findings from 46 years of research on newborn screening for cystic fibrosis (CF), along with healthcare and public health practice. The goal of consistently timely and equitable diagnoses in the neonatal period has not been achieved in the USA. The causes for this include challenges in leadership and deficiencies in CF centers and NBS labs, lack of effective partnerships, misunderstandings about CF, and limitations in data and protocols.
MOLECULAR GENETICS AND METABOLISM
(2023)
Article
Pediatrics
Kathrine Baldwin, Erin McElroy Barker, Mary Carayannopoulos, Philip M. Farrell, Robert Zanni, Thomas F. Scanlin
Summary: The study found that some children with cystic fibrosis were missed in the 20-year IRT/DNA (F508del) algorithm, highlighting the need for quality improvement measures to prevent future delayed diagnoses.
PEDIATRIC PULMONOLOGY
(2023)
Article
Biochemistry & Molecular Biology
Philip R. Tedbury, Candela Manfredi, Frauke Degenhardt, Joseph Conway, Michael C. Horwath, Courtney McCracken, Adam J. Sorscher, Sandy Moreau, Christine Wright, Carolina Edwards, Jo Brewer, Jeannette Guarner, Emmie de Wit, Brandi N. Williamson, Mehul S. Suthar, Yee T. Ong, John D. Roback, David N. Alter, Jan C. Holter, Tom H. Karlsen, Nicoletta Sacchi, Manuel Romero-Gomez, Pietro Invernizzi, Javier Fernandez, Maria Buti, Agustin Albillos, Antonio Julia, Luca Valenti, Rosanna Asselta, Jesus M. Banales, Luis Bujanda, Rafael de Cid, Andre Franke, Stefan G. Sarafianos, Jeong S. Hong, Eric J. Sorscher, Annette Ehrhardt
Summary: Patients with cystic fibrosis (CF) are not highly susceptible to severe COVID-19 despite initial concerns. CFTR carrier status does not affect the severity of COVID-19 clinical outcomes. However, mortality rates are higher in control individuals compared to silent carriers of the common F508del CFTR variant, which requires further investigation. The acidic, viscous, and mucus-obstructed airways in CF patients are unfavorable for coronavirus infection.
Article
Biochemistry & Molecular Biology
Philip R. Tedbury, Candela Manfredi, Frauke Degenhardt, Joseph Conway, Michael C. Horwath, Courtney McCracken, Adam J. Sorscher, Sandy Moreau, Christine Wright, Carolina Edwards, Jo Brewer, Jeannette Guarner, Emmie de Wit, Brandi N. Williamson, Mehul S. Suthar, Yee T. Ong, John D. Roback, David N. Alter, Jan C. Holter, Tom H. Karlsen, Nicoletta Sacchi, Manuel Romero-Gomez, Pietro Invernizzi, Javier Fernandez, Maria Buti, Agustin Albillos, Antonio Julia, Luca Valenti, Rosanna Asselta, Jesus M. Banales, Luis Bujanda, Rafael de Cid, Andre Franke, Stefan G. Sarafianos, Jeong S. Hong, Eric J. Sorscher, Annette Ehrhardt
Summary: Patients with cystic fibrosis (CF) do not have a higher risk of severe COVID-19 due to CFTR carrier status, but control individuals have a higher mortality rate compared to silent carriers. The absence of functional CFTR does not affect the production of SARS-CoV-2 in airway cells, while in vitro experiments suggest that virus proliferation is dependent on features disrupted by absent CFTR in patients with CF. The acidic, viscous, and mucus-obstructed airways in CF patients are unfavorable for coronaviral infection establishment.
Review
Biochemistry & Molecular Biology
Evelina Moliteo, Monica Sciacca, Antonino Palmeri, Maria Papale, Sara Manti, Giuseppe Fabio Parisi, Salvatore Leonardi
Summary: There is substantial evidence that patients with cystic fibrosis (CF) have higher oxidative stress levels, which contribute to the progression of chronic lung damage. CF patients exhibit an abnormal proinflammatory environment in their airways even before infection, possibly due to elevated oxidative stress and abnormal lipid metabolism. CFTR deficiency appears to cause a redox imbalance in epithelial cells and extracellular fluids.
Review
Medicine, Research & Experimental
Shijing Jia, Jennifer L. Taylor-Cousar
Summary: Cystic fibrosis (CF) is a genetic disease that affects multiple organ systems and can lead to various complications. Traditional treatments focused on managing the symptoms of each affected system. However, the development of modulator therapies targeted at specific genetic mutations has significantly improved the lives and prognosis of CF patients.
ANNUAL REVIEW OF MEDICINE
(2023)
Article
Nutrition & Dietetics
Susannah J. King, Audrey C. Tierney, Deirdre Edgeworth, Dominic Keating, Elyssa Williams, Tom Kotsimbos, Brenda M. Button, John W. Wilson
Summary: Ivacaftor treatment led to initial gains in fat-free mass in the first month, with weight, BMI, and fat mass increases plateauing within the first 6 months and remaining stable over 2.5 years. The long-term metabolic and clinical implications of weight and fat mass gains are still unknown.
Article
Reproductive Biology
Leo Han, Mackenzie Roberts, Addie Luo, Shuhao Wei, Ov D. Slayden, Kelvin D. Macdonald
Summary: This study demonstrates the hormonal regulation of cystic fibrosis transmembrane conductance regulator (CFTR) expression in endocervical cells, both in vitro and in vivo. The researchers also showed that endocervical epithelial cells can be conditionally reprogrammed to study CFTR ion channel function. Furthermore, the study found that estrogen upregulates CFTR expression in the macaque cervix, which is blocked by cotreatment with progesterone.
BIOLOGY OF REPRODUCTION
(2022)
