Review
Genetics & Heredity
Nela Stastna, Kristian Brat, Lukas Homola, Audun Os, Dagmar Brancikova
Summary: Cystic fibrosis (CF), the most common genetic disease in the Caucasion population, can be significantly improved by CFTR modulators therapy. Recent epidemiological studies indicate that the increasing incidence of tumors, including breast cancer, poses new therapeutic challenges for CF patients. Chemotherapy used for breast cancer can affect the CFTR channel and CFTR modulator therapy has frequent side effects on breast tissue.
ORPHANET JOURNAL OF RARE DISEASES
(2023)
Review
Pediatrics
Valeria Dacco, Gianfranco Alicandro, Alessandra Consales, Chiara Rosazza, Calogero S. Sciarrabba, Lisa Cariani, Carla Colombo
Summary: This study provides insights into Cepacia syndrome (CS), a rare but potentially lethal complication of Burkholderia cepacia complex (BCC) infection in cystic fibrosis (CF) patients. The study includes a systematic review of 18 cases of CS reported over the last 24 years, with a high mortality rate of 50%. The data are insufficient to determine the most effective therapeutic approach for CS.
PEDIATRIC PULMONOLOGY
(2023)
Review
Critical Care Medicine
Gemma E. Stanford, Kavita Dave, Nicholas J. Simmonds
Summary: Pulmonary exacerbations in cystic fibrosis patients are significant events associated with declining lung function, reduced quality of life, hospitalizations, and decreased survival. With the increasing adult CF population globally, the management of PExs needs to evolve to reflect changing demographics and improve outcomes. Studies are underway to address unmet needs and optimize treatment strategies for PExs in adults with CF.
Review
Biochemistry & Molecular Biology
Anca Daniela Pinzaru, Cristina Maria Mihai, Tatiana Chisnoiu, Alexandru Cosmin Pantazi, Vasile Valeriu Lupu, Mustafa Ali Kassim Kassim, Ancuta Lupu, Elena Grosan, Ahmed Zaki Naji Al Jumaili, Irina Ion, Gabriela Stoleriu, Ileana Ion
Summary: Cystic fibrosis (CF) is the most common inherited condition that leads to death, especially in those of Caucasian heritage. Around 20% of young adults diagnosed with CF will develop hyperglycemia as a complication, which is later classified as a disease associated with CF. Impaired insulin secretion and glucose intolerance are the primary mechanisms associated with diabetes (type 1 or type 2) and CF. Oxidative stress plays a crucial role in triggering other chronic diseases, including CF-related diabetes. Understanding the connection between CF-related diabetes and oxidative stress is essential for individualized therapies.
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
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
Endocrinology & Metabolism
Sarah S. Malik, Diksha Padmanabhan, Rebecca L. Hull-Meichle
Summary: Cystic fibrosis related diabetes is a common complication in patients with cystic fibrosis, but the mechanisms behind its occurrence are not well understood. Cystic fibrosis affects the pancreatic/islet microenvironment, leading to the loss of beta cell function and pathological changes. Further research can help develop better treatment methods.
FRONTIERS IN ENDOCRINOLOGY
(2023)
Review
Pediatrics
Claire Edmondson, Christopher William Course, Iolo Doull
Summary: Cystic fibrosis, a genetic disorder, has been significantly improved by the new CFTR modulators, leading to increased life expectancy for patients. However, the high cost is the main barrier to their wider introduction.
ARCHIVES OF DISEASE IN CHILDHOOD
(2021)
Review
Critical Care Medicine
Patrick Maisonneuve, Albert B. Lowenfels
Summary: Cystic fibrosis is a progressive genetic disorder that affects the respiratory and digestive systems, and patients with CF are at an increased risk of digestive tract cancer. Guidelines for screening have been developed, but it is unknown whether new drugs will alter the risk of cancer in CF patients.
Article
Respiratory System
Nicola Jane Rowbotham, Sherie Smith, Zoe C. Elliott, Belinda Cupid, Lorna J. Allen, Katherine Cowan, Lucy Allen, Alan Robert Smyth
Summary: Through online surveys and workshops, patients and clinicians selected the revised top 10 priorities for cystic fibrosis clinical research from 971 new research questions and 15 questions from 2018, in order to determine the new focus of research in cystic fibrosis.
Article
Pediatrics
Raphael Enaud, Eric Frison, Sophie Missonnier, Aude Fischer, Victor de Ledinghen, Paul Perez, Stephanie Bui, Michael Fayon, Jean-Francois Chateil, Thierry Lamireau
Summary: This study evaluated the repeatability and reproducibility of TE and pSWE VTQ in children with CF, finding both techniques to be reliable for assessing liver fibrosis. The high ICC values obtained suggest that TE and pSWE VTQ can be used effectively in the follow-up of CF patients, depending on their availability in CF centers.
PEDIATRIC RESEARCH
(2022)
Article
Respiratory System
Senne Cuyx, Anabela Santo Ramalho, Nikky Corthout, Steffen Fieuws, Eva Furstova, Kaline Arnauts, Marc Ferrante, Catherine Verfaillie, Sebastian Munck, Mieke Boon, Marijke Proesmans, Lieven Dupont, Kris De Boeck, Francois Vermeulen
Summary: The new physiological CFTR assay, ROMA, based on rectal organoid morphology analysis, is able to accurately differentiate CF patients with disease-causing mutations from non-CF subjects. It offers improved diagnostic accuracy and can be used across all age groups.
Editorial Material
Health Care Sciences & Services
Samer Hammoudeh, Ibrahim A. A. Janahi
Summary: Cystic fibrosis is a genetic disorder caused by a defect in the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene, leading to debilitating symptoms experienced by many people around the world. This commentary aims to briefly cover different aspects of the disease in the Arab world and specifically in Qatar.
JOURNAL OF PERSONALIZED MEDICINE
(2023)
Article
Microbiology
Katarzyna Pienkowska, Marie-Madlen Pust, Margaux Gessner, Svenja Gaedcke, Ajith Thavarasa, Ilona Rosenboom, Patricia Moran Losada, Rebecca Minso, Christin Arnold, Silke Hedtfeld, Marie Dorda, Lutz Wiehlmann, Jochen G. Mainz, Jens Klockgether, Burkhard Tuemmler
Summary: Cystic fibrosis (CF) is a common genetic disease caused by mutations in the CFTR gene, which leads to chronic airway infections and affects the quality of life in patients. The microbial communities in CF airways were studied using whole-genome shotgun sequencing, revealing personalized microbial metagenomes unique to each patient. Different species of commensal bacteria were found in healthy individuals and CF patients, even in the absence of typical CF pathogens.
MICROBIOLOGY SPECTRUM
(2023)
Article
Critical Care Medicine
Heather D. Green, Andrew M. Jones
Summary: Cystic fibrosis is a disease characterized by chronic airway infection and progressive decline in respiratory function. Recent changes in the landscape of airway infection in CF have resulted in an increased prevalence of atypical gram-negative bacterial infections. The clinical relevance and treatment strategies for many of these lower prevalence organisms are still not well understood.
Article
Pediatrics
Yuelin Shen, Jinrong Liu, Lili Zhong, Peter J. Mogayzel, Pamela L. Zeitlin, Patrick R. Sosnay, Shunying Zhao
JOURNAL OF PEDIATRICS
(2016)
Article
Respiratory System
Scott H. Donaldson, George M. Solomon, Pamela L. Zeitlin, Patrick A. Flume, Alicia Casey, Karen McCoy, Edith T. Zemanick, Arun Mandagere, Janice M. Troha, Steven A. Shoemaker, James F. Chmiel, Jennifer L. Taylor-Cousar
JOURNAL OF CYSTIC FIBROSIS
(2017)
Article
Physiology
Eric S. Schiffhauer, Neeraj Vij, Olga Kovbasnjuk, Po Wei Kang, Doug Walker, Seakwoo Lee, Pamela L. Zeitlin
AMERICAN JOURNAL OF PHYSIOLOGY-LUNG CELLULAR AND MOLECULAR PHYSIOLOGY
(2013)
Article
Critical Care Medicine
Frank J. Accurso, Richard B. Moss, Robert W. Wilmott, Ran D. Anbar, Amy E. Schaberg, Todd A. Durham, Bonnie W. Ramsey
AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE
(2011)
Article
Biochemistry & Molecular Biology
Seakwoo Lee, Mark J. Henderson, Eric Schiffhauer, Jordan Despanie, Katherine Henry, Po Wei Kang, Douglas Walker, Michelle L. McClure, Landon Wilson, Eric J. Sorscher, Pamela L. Zeitlin
MOLECULAR AND CELLULAR BIOLOGY
(2014)
Article
Biotechnology & Applied Microbiology
Jung Soo Suk, Nicholas J. Boylan, Kanika Trehan, Benjamin C. Tang, Craig S. Schneider, Jung-Ming G. Lin, Michael P. Boyle, Pamela L. Zeitlin, Samuel K. Lai, Mark J. Cooper, Justin Hanes
Article
Otorhinolaryngology
Lara C. Kovell, Jiangxia Wang, Stacey L. Ishman, Pamela L. Zeitlin, Emily F. Boss
OTOLARYNGOLOGY-HEAD AND NECK SURGERY
(2011)
Article
Allergy
Pamela L. Zeitlin, Lawrence M. Nogee
PEDIATRIC ALLERGY IMMUNOLOGY AND PULMONOLOGY
(2011)
Article
Critical Care Medicine
Elton Kerem, Michael W. Konstan, Kris De Boeck, Frank J. Accurso, Isabelle Sermet-Gaudelus, Michael Wilschanski, J. Stuart Elborn, Paola Melotti, Inez Bronsveld, Isabelle Fajac, Anne Malfroot, Daniel B. Rosenbluth, Patricia A. Walker, Susanna A. McColley, Christiane Knoop, Serena Quattrucci, Ernst Rietschel, Pamela L. Zeitlin, Jay Barth, Guy L. Elfring, Ellen M. Welch, Arthur Branstrom, Robert J. Spiegel, Stuart W. Peltz, Temitayo Ajayi, Steven M. Rowe
LANCET RESPIRATORY MEDICINE
(2014)
Article
Pediatrics
Beth L. Laube, Kathryn A. Carson, Christopher M. Evans, Vanessa L. Richardson, Gail Sharpless, Pamela L. Zeitlin, Peter J. Mogayzel
PEDIATRIC PULMONOLOGY
(2020)
Article
Physiology
Ciaran A. Shaughnessy, Sangya Yadav, Preston E. Bratcher, Pamela L. Zeitlin
Summary: This study investigates the activation of CFTR by targeting prostaglandin receptors and the combined treatment with lubiprostone, demonstrating the potential to enhance CFTR function in cystic fibrosis patients. The findings suggest that lubiprostone can be used in combination with CFTR modulator therapies to further restore CFTR activity.
AMERICAN JOURNAL OF PHYSIOLOGY-LUNG CELLULAR AND MOLECULAR PHYSIOLOGY
(2022)
Article
Medicine, Research & Experimental
Maya E. Kotas, Camille M. Moore, Jose G. Gurrola, Steven D. Pletcher, Andrew N. Goldberg, Raquel Alvarez, Sheyla Yamato, Preston E. Bratcher, Ciaran A. Shaughnessy, Pamela L. Zeitlin, Irene H. Zhang, Yingchun Li, Michael T. Montgomery, Keehoon Lee, Emily K. Cope, Richard M. Locksley, Max A. Seibold, Erin D. Gordon
Summary: Chronic type 2 inflammatory diseases of the respiratory tract are characterized by mucus overproduction and disordered mucociliary function. Common epithelial cell types (mucus secretory and ciliated cells) are affected by IL-13, but it is unclear what role rare cells (tuft cells) play in airway T2 inflammation. This study found that IL-13 expands and programs airway tuft cells towards eicosanoid metabolism and deficiency of tuft cells leads to reduced airway PGE concentration. Tuft cells have a role in regulating epithelial mucociliary function in the allergic airway.
Article
Allergy
Pamela L. Zeitlin, Mila Leong, Jeremy Cole, Raburn M. Mallory, Vivian H. Shih, Richard F. Olsson, Mitchell Goldman
JOURNAL OF ASTHMA AND ALLERGY
(2018)
Article
Respiratory System
Pamela L. Zeitlin, Marie Diener-West, Karen A. Callahan, Seakwoo Lee, C. Conover Talbot, Bette Pollard, Michael P. Boyle, Noah Lechtzin
ANNALS OF THE AMERICAN THORACIC SOCIETY
(2017)
Article
Physiology
Katherine R. Henry, Seakwoo Lee, Douglas Walker, Pamela L. Zeitlin
PHYSIOLOGICAL REPORTS
(2015)