Search Our Scientific Publications & Authors

Appl Microbiol Biotechnol 2020 Jun 4. Epub 2020 Jun 4.

Department of Surgery, University School of Medicine, Indiana University, Indianapolis, IN, 46202, USA.

Pseudomonas aeruginosa infection is a significant threat for clinicians. Increasing incidents of resistant biofilm infection result in high mortality rates worldwide. There is a considerable current interest in the field of extracellular DNA (eDNA)-mediated P. Read More

NAR Genom Bioinform 2020 Jun 25;2(2):lqaa036. Epub 2020 May 25.

Division of Neonatology, Perinatal and Pulmonary Biology, Perinatal Institute, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA.

Genome-wide association studies have identified lung disease-associated loci; however, the functions of such loci are not well understood in part because the majority of such loci are located at non-coding regions. Hi-C, ChIP-seq and eQTL data predict potential roles (e.g. Read More

Eur Respir J 2020 Jun 4. Epub 2020 Jun 4.

University of Milan, Department of Pathophysiology and Transplantation, Milan, Italy.

Introduction: Neutrophilic inflammation is a major driver of bronchiectasis pathophysiology, and neutrophil elastase activity is the most promising biomarker evaluated in sputum to date. How active neutrophil elastase correlates with lung microbiome in bronchiectasis is still unexplored. We aimed at understanding if active neutrophil elastase is associated with low microbial diversity and distinct microbiome characteristics. Read More

J Cyst Fibros 2020 Jun 1. Epub 2020 Jun 1.

Department of Gastroenterology and Hepatology, Erasmus Medical Center, University Hospital Rotterdam, the Netherlands.

Background: The natural food supplements curcumin and genistein, and the drug ivacaftor were found effective as CFTR potentiators in the organoids of individuals carrying a S1251N gating mutation, possibly in a synergistic fashion. Based on these in vitro findings, we evaluated the clinical efficacy of a treatment with curcumin, genistein and ivacaftor, in different combinations.

Methods: In three multi-center trials people with CF carrying the S1251N mutation were treated for 8 weeks with curcumin+genistein, ivacaftor and ivacaftor+genistein. Read More

Cochrane Database Syst Rev 2020 Jun 4;6:CD008482. Epub 2020 Jun 4.

Research and Development, Empower 2 Go, Edmonton, UK.

Background: Malabsorption and deficiency of fat-soluble vitamins K may occur in cystic fibrosis, a genetic disorder affecting multiple organs. Vitamin K is known to play an important role in both blood coagulation and bone formation, hence the role of supplementation of vitamin K in this category needs to be reviewed. This is an updated version of the review. Read More

Rev Med Liege 2020 May;75(5-6):410-414

Service de Pédiatrie, CHU Liège, Belgique.

Cystic fibrosis is a genetic disorder responsible for the production of a defective transmembrane protein. In recent years, new protein modulators have been developed. They aim to treat the underlying cause of the disease. Read More

Bol Med Hosp Infant Mex 2020 ;77(3):100-111

Instituto Nacional de Perinatología, Ciudad de México. México.

Respiratory syncytial virus (RSV) is the agent that causes more hospitalizations and deaths due to lower acute respiratory infection. Its distribution is widespread, and almost every child has been infected by the age of two years. Different risk populations have been identified: preterm newborns (NB), children with congenital heart disease, bronchopulmonary dysplasia, Down syndrome, cystic fibrosis, asthmatics, neuromuscular diseases, among others. Read More

Radiologe 2020 Jun 3. Epub 2020 Jun 3.

Arbeitsbereich Kinderradiologie, Institut für Diagnostische und Interventionelle Radiologie, Medizinische Hochschule Hannover, Hannover, Deutschland.

Clinical Issue: Abdominal complications are often the first indications for cystic fibrosis (CF), a multiorgan disease. A broad range of abdominal manifestations are associated with the disease, including gastrointestinal abnormalities (such as meconium ileus in newborns and distal intestinal obstruction syndrome in older children) and hepatobiliary alterations (e.g. Read More

Sci Adv 2020 May 6;6(19):eaax9093. Epub 2020 May 6.

Department of Medical Sciences and Laboratory for Technologies of Advanced Therapies (LTTA), University of Ferrara, 44121 Ferrara, Italy.

Mitochondria physically associate with the endoplasmic reticulum to coordinate interorganelle calcium transfer and regulate fundamental cellular processes, including inflammation. Deregulated endoplasmic reticulum-mitochondria cross-talk can occur in cystic fibrosis, contributing to hyperinflammation and disease progression. We demonstrate that infection increases endoplasmic reticulum-mitochondria associations in cystic fibrosis bronchial cells by stabilizing VAPB-PTPIP51 (vesicle-associated membrane protein-associated protein B-protein tyrosine phosphatase interacting protein 51) tethers, affecting autophagy. Read More

Cells 2020 Jun 1;9(6). Epub 2020 Jun 1.

Istituto Italiano di Tecnologia (IIT), Largo Barsanti e Matteucci 53, 80125 Napoli, Italy.

Cystic fibrosis is characterized by lung dysfunction involving mucus hypersecretion, bacterial infections, and inflammatory response. Inflammation triggers pro-fibrotic signals that compromise lung structure and function. At present, several in vitro cystic fibrosis models have been developed to study epithelial dysfunction but none of these focuses on stromal alterations. Read More

Respir Med Res 2020 Jan 23;77:79-88. Epub 2020 Jan 23.

Service d'Évaluation Médicale et d'Épidémiologie, CHU de Nantes, Nantes, France; UMR Inserm 1246-Methods in Patient-Centered Outcomes and Health Research (SPHERE), Nantes, France.

Background: How health-care professionals inform cystic fibrosis patients and their relatives about transplantation is not well known. Such information may not be provided in a timely or satisfactory manner. We conducted a survey about patient information practices among professionals from all French cystic fibrosis centers and transplant centers, to determine how they might be improved. Read More

Cell Rep 2020 Jun;31(9):107721

Program in Cell Biology, Hospital for Sick Children, Toronto, ON M5G 1X8, Canada.

Burkholderia cenocepacia is an opportunistic bacterial pathogen that causes severe pulmonary infections in cystic fibrosis and chronic granulomatous disease patients. B. cenocepacia can survive inside infected macrophages within the B. Read More

Mol Ther Methods Clin Dev 2020 Jun 12;17:1118-1128. Epub 2020 May 12.

Program in Genetics and Genome Biology, The Hospital for Sick Children Research Institute, Toronto, ON, Canada.

Nonsense-mediated decay (NMD) is a major pathogenic mechanism underlying a diversity of genetic disorders. Nonsense variants tend to lead to more severe disease phenotypes and are often difficult targets for small molecule therapeutic development as a result of insufficient protein production. The treatment of cystic fibrosis (CF), an autosomal recessive disease caused by mutations in the gene, exemplifies the challenge of therapeutically addressing nonsense mutations in human disease. Read More

IDCases 2020 18;21:e00830. Epub 2020 May 18.

Adult Cystic Fibrosis Center, Pensacola Lung Group, Pensacola, FL, United States.

Cystic fibrosis (CF) is a progressive genetic disorder caused by mutations in a gene encoding the cystic fibrosis transmembrane regulator (CFTR) protein leading to persistent and difficult to treat lower airway infections. Multi-drug resistant is becoming increasingly more common as a cause of pulmonary exacerbations, and newer agents such as ceftolozane/tazobactam (C/T) are being sought for treatment. There is currently little published data regarding its use in cystic fibrosis, particularly in the setting of reduced renal clearance. Read More

Iran J Basic Med Sci 2020 Apr;23(4):454-460

Department of Microbiology, Faculty of Biological Sciences, Alzahra University, Tehran, Iran.

Objectives: Alginates play a key role in mucoid colonization, biofilm formation, and driving out of cationic antibiotics. alginate lyase (AlgL) is a periplasmic enzyme that is necessary for alginate synthesis and secretion. It also has a role in depolymerization of alginates. Read More

Continuum (Minneap Minn) 2020 Jun;26(3):556-576

Purpose Of Review: This article reviews the neurologic complications encountered with cardiac and pulmonary disorders, specifically focusing on endocarditis, cardiac arrest, heart failure, hypercapnia, hypoxia, and cystic fibrosis. As neurologic dysfunction is one of the most frequent complications of these diseases and may even be the presenting symptom, it is important to be familiar with these complications to foster early recognition and intervention.

Recent Findings: Advances have been made in the identification of which patients can safely undergo valvular surgery for treatment of infective endocarditis in the setting of stroke, which, ideally, will minimize the risk of recurrent stroke in these patients. Read More

J Med Genet 2020 Jun 2. Epub 2020 Jun 2.

Department of Paediatrics, University Hospital Münster, Münster, Nordrhein-Westfalen, Germany

Introduction: TMEM16A is a calcium-activated chloride channel expressed in various secretory epithelia. Two siblings presented in early infancy with reduced intestinal peristalsis and recurrent episodes of haemorrhagic diarrhoea. In one of them, the episodes were characterised by hepatic pneumatosis with gas bubbles in the portal vein similar to necrotising enterocolitis of the newborn. Read More

J Cyst Fibros 2020 May 30. Epub 2020 May 30.

Department of Pediatric infectious diseases and immunology, Wilhelmina Children's Hospital, University Medical Center Utrecht, the Netherlands; The Queen's Medical Research Institute, University of Edinburgh, United Kingdom. Electronic address:

Objectives: Patients with Cystic Fibrosis (CF) suffer from pancreatic insufficiency, lipid malabsorption and gastrointestinal complaints, next to progressive pulmonary disease. Altered mucosal homoeostasis due to malfunctioning chloride channels results in an adapted microbial composition of the gastrointestinal and the respiratory tract. Additionally, antibiotic treatment has the potential to distort resident microbial communities dramatically. Read More

J Cyst Fibros 2020 May 30. Epub 2020 May 30.

Division of Pulmonary Medicine, Nationwide Children's Hospital, Columbus, OH, USA; Center for Microbial Pathogenesis, The Abigail Wexner Research Institute at Nationwide Children's Hospital, W510, 700 Children's Drive, Columbus, OH 43205, USA. Electronic address:

Background: Inflammation is integral to early disease progression in children with CF. The effect of modifiable environmental factors on infection and inflammation in persons with CF is poorly understood. Our prior studies determined that secondhand smoke exposure (SHSe) is highly prevalent in young children with CF. Read More

Respir Res 2020 Jun 1;21(1):135. Epub 2020 Jun 1.

Clinician-Scientist, UBC Centre for Heart Lung Innovation, Providence Health Care Research Institute, University of British Columbia, St. Paul's Hospital, #166 - 1081 Burrard Street, Vancouver, BC, V6Z 1Y6, Canada.

Rationale: Lumacaftor/ivacaftor (LUM/IVA) modestly improves lung function following 1 month of treatment but it is unknown if this translates into improvements in exercise endurance and exertional symptoms.

Methods: Adult CF participants completed a symptom-limited constant load cycling test with simultaneous assessments of dyspnea and leg discomfort ratings pre- and 1 month post-initiation of LUM/IVA.

Results: Endurance time, exertional dyspnea and leg discomfort ratings at submaximal exercise did not change significantly. Read More

Viruses 2020 May 31;12(6). Epub 2020 May 31.

Cardiff School of Biosciences, Cardiff University, Cardiff CF10 3NB, UK.

species have environmental, industrial and medical significance, and are important opportunistic pathogens in individuals with cystic fibrosis (CF). Using a combination of existing and newly determined genome sequences, this study investigated prophage carriage across the species , and also isolated spontaneously inducible prophages from a reference strain, G4. Eighty-one genomes were bioinformatically screened for prophages using PHASTER (Phage Search Tool Enhanced Release) and prophage regions were found to comprise up to 3. Read More

Toxins (Basel) 2020 May 30;12(6). Epub 2020 May 30.

Institute of Medical Microbiology, University Hospital Münster, 48149 Münster, Germany.

is one of the most common pathogens that infects the airways of patients with cystic fibrosis (CF) and contributes to respiratory failure. Recently, livestock-associated methicillin-resistant (LA-MRSA), usually cultured in farm animals, were detected in CF airways. Although some of these strains are able to establish severe infections in humans, there is limited knowledge about the role of LA-MRSA virulence in CF lung disease. Read More

Int J Mol Sci 2020 May 30;21(11). Epub 2020 May 30.

Department of Cellular Computational Integrative Biology (CIBIO), University of Trento, 38123 Trento, Italy.

Since the early days of its conceptualization and application, human gene transfer held the promise of a permanent solution to genetic diseases including cystic fibrosis (CF). This field went through alternated periods of enthusiasm and distrust. The development of refined technologies allowing site specific modification with programmable nucleases highly revived the gene therapy field. Read More

Genes (Basel) 2020 May 29;11(6). Epub 2020 May 29.

Gregory Fleming James Cystic Fibrosis Research Center, University of Alabama at Birmingham (UAB), Birmingham, AL 35294, USA.

We describe a human nasal epithelial (HNE) organoid model derived directly from patient samples that is well-differentiated and recapitulates the airway epithelium, including the expression of cilia, mucins, tight junctions, the cystic fibrosis transmembrane conductance regulator (CFTR), and ionocytes. This model requires few cells compared to airway epithelial monolayer cultures, with multiple outcome measurements depending on the application. A novel feature of the model is the predictive capacity of lumen formation, a marker of baseline CFTR function that correlates with short-circuit current activation of CFTR in monolayers and discriminates the cystic fibrosis (CF) phenotype from non-CF. Read More

Int J Environ Res Public Health 2020 May 29;17(11). Epub 2020 May 29.

National Jewish Health, Denver, CO 80206, USA.

Nontuberculous mycobacteria (NTM) are environmental bacteria that may cause chronic lung disease. Environmental factors that favor NTM growth likely increase the risk of NTM exposure within specific environments. We aimed to identify water-quality constituents (Al, As, Cd, Ca, Cu, Fe, Pb, Mg, Mn, Mo, Ni, K, Se, Na, Zn, and pH) associated with NTM disease across Colorado watersheds. Read More

Ann Hum Genet 2020 Jun 2. Epub 2020 Jun 2.

Department of Biomedicine and Prevention, Medical Genetics Section, University of Rome Tor Vergata, Rome, Italy.

The complexity in the molecular diagnosis of Cystic Fibrosis (CF) also depends on the variable prevalence/incidence of the disease associated with the wide CFTR allelic heterogeneity among different populations. In fact, CF incidence in Asian and African countries is underestimated and the few patients reported so far have rare or unique CFTR pathogenic variants. To obtain insights into CF variants profile and frequency, we used the large population sequencing data in the Genome Aggregation Database (gnomAD). Read More

Eur J Hum Genet 2020 Jun 1. Epub 2020 Jun 1.

Department of Clinical Genetics, Children's Health Ireland (CHI) at Crumlin, Dublin, Ireland.

Cystic fibrosis (CF) is the most common life-limiting autosomal recessive disease in the Republic of Ireland (ROI), with a previously quoted incidence of 1 in 1353 and carrier rate of 1 in 19. The National Newborn Screening (NBS) for CF was incorporated in July 2011 in the ROI. A cut-off point of the top 1% Immunoreactive Trypsinogen (IRT) was taken as an indication for 38 CFTR variant panel to maximise identification of affected CF cases and to minimise detection of carriers. Read More

J Cyst Fibros 2020 May 30. Epub 2020 May 30.

Division of Pediatric Gastroenterology, Nutrition, and Hepatology, Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD, USA.

Background & Aims: A practical, inexpensive, and non-invasive biomarker of liver fibrosis is needed as a reliable screening test for cystic fibrosis-associated liver disease (CFLD). Studies have shown the utility of AST to Platelet Ratio Index (APRI), fibrosis index based on 4 factors (FIB-4), and gamma-glutamyl transferase (GGT) as good biomarkers for identifying CFLD. The goal of the study was to evaluate the effectiveness of APRI, FIB-4, AST/ALT ratio, platelet count, GGT, and GGT platelet ratio (GPR) in predicting CFLD development. Read More

J Cyst Fibros 2020 May 30. Epub 2020 May 30.

Department of Microbiology and Immunology, Dalhousie University, Halifax, Nova Scotia, B3H 4R2, Canada. Electronic address:

Background: Pseudomonas aeruginosa forms antibiotic-resistant biofilms that are responsible for the treatment failure or relapses of the bacterial infections in the lungs of patients with cystic fibrosis (CF). The alginate lyases that target extracellular polysaccharide alginate of P. aeruginosa biofilms are promising therapeutic candidates for treatment of P. Read More

Int J Mol Sci 2020 May 28;21(11). Epub 2020 May 28.

Department of Pediatrics, UPMC Children's Hospital of Pittsburgh, University of Pittsburgh School of Medicine, Pittsburgh, PA 15224, USA.

Mucociliary clearance, mediated by a coordinated function of cilia bathing in the airway surface liquid (ASL) on the surface of airway epithelium, protects the host from inhaled pathogens and is an essential component of the innate immunity. ASL is composed of the superficial mucus layer and the deeper periciliary liquid. Ion channels, transporters, and pumps coordinate the transcellular and paracellular movement of ions and water to maintain the ASL volume and mucus hydration. Read More

Sarcoidosis Vasc Diffuse Lung Dis 2017 28;34(2):197-199. Epub 2017 Apr 28.

Department of Pediatrics, Pulmonary and Allergy Disease Unit and Cystic Fibrosis Center, Istituto Giannina Gaslini, Genoa, Italy.

J Clin Pharm Ther 2020 Jun 1. Epub 2020 Jun 1.

Arnold & Marie Schwartz College of Pharmacy and Health Sciences, Brooklyn, New York.

What Is Known And Objective: Haemoptysis is a major complication of cystic fibrosis (CF) and is associated with pulmonary exacerbations and admission to the hospital. The US CF Pulmonary Foundation guidelines fail to reach consensus on haemoptysis treatment regarding pharmacotherapy options.

Case Summary Description: We describe a case in which systemic tranexamic acid was utilized to treat haemoptysis in a CF adult patient who was experiencing progressively worsening haemoptysis despite numerous bronchial artery embolization procedures. Read More

Ann Intern Med 2020 Jun 2. Epub 2020 Jun 2.

Dartmouth Hitchcock Medical Center, Lebanon, New Hampshire (S.G., M.S.).

J Travel Med 2020 Jun 1. Epub 2020 Jun 1.

Northern Ireland Public Health Laboratory, Nightingale (Belfast City) Hospital, Lisburn Road, Belfast, BT9 7AD, Northern Ireland, UK.

M. abscessus persisted for over two weeks in Dead Sea brine and staphylococcal organisms were able to survive from three to 11 days. The uniqueness of the Dead Sea's chemical composition, particularly its extremely high salinity, eventually leads to the destruction of M. Read More

J Vis Exp 2020 May 12(159). Epub 2020 May 12.

Dipartimento di Biotecnologie Mediche e Medicina Traslazionale, Università degli Studi di Milano, LITA;

Antimicrobial resistance, a major consequence of diagnostic uncertainty and antimicrobial overprescription, is an increasingly recognized cause of severe infections, complications, and mortality worldwide with a huge impact on our society and on the health system. In particular, patients with compromised immune systems or pre-existing and chronic pathologies, such as cystic fibrosis (CF), are subjected to frequent antibiotic treatments to control the infections with the appearance and diffusion of multidrug resistant isolates. Therefore, there is an urgent need to address alternative therapies to counteract bacterial infections. Read More

Front Cell Infect Microbiol 2020 14;10:213. Epub 2020 May 14.

Department of Microbiology and Molecular Genetics, University of Pittsburgh, Pittsburgh, PA, United States.

Chronic respiratory diseases including chronic rhinosinusitis, otitis media, asthma, cystic fibrosis, non-CF bronchiectasis, and chronic obstructive pulmonary disease are a major public health burden. Patients suffering from chronic respiratory disease are prone to persistent, debilitating respiratory infections due to the decreased ability to clear pathogens from the respiratory tract. Such infections often develop into chronic, life-long complications that are difficult to treat with antibiotics due to the formation of recalcitrant biofilms. Read More

J Cyst Fibros 2020 May 28. Epub 2020 May 28.

Centre for Heart Lung Innovation, St. Paul's Hospital and University of British Columbia, Vancouver, BC, Canada; Division of Respiratory Medicine, Department of Medicine, University of British Columbia, Vancouver, BC, Canada. Electronic address:

Cystic fibrosis (CF) pulmonary exacerbations (PEx) remain underdiagnosed by CF clinicians. Serum C-reactive protein (CRP) and calprotectin are inflammatory biomarkers that have the potential to aid in the diagnosis of PEx. 19 subjects (56 stable, 46 PEx visits) from a longitudinal study were included and the diagnostic performance of absolute and fold-change CRP and calprotectin cut-offs to discriminate stable and PEx visits was assessed. Read More

Neurogastroenterol Motil 2020 May 31:e13883. Epub 2020 May 31.

Digestive System Research Unit, University Hospital Vall d'Hebron; Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas (Ciberehd), Barcelona, Spain.

Background: Cystic fibrosis (CF) is a multisystem disease caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) protein. Cystic fibrosis transmembrane conductance regulator is extensively expressed in the intestine and has an important role in the regulation of the viscosity and pH of gut secretions. Several studies have reported a delay in small bowel and colonic transit times in patients with CF which have been attributed to the secretory dysfunction. Read More

Int J Mycobacteriol 2020 Apr-Jun;9(2):173-175

Department of Bacteriology, Northern Ireland Public Health Laboratory, Belfast City Hospital, Belfast; School of Biomedical Sciences, Ulster University, Coleraine; School of Medicine, Dentistry and Biomedical Science, The Wellcome.Wolfson Institute for Experimental Medicine, Queenfs University, Belfast, Northern Ireland.

Background: Nebulizer hygiene and care is important in cystic fibrosis (CF) to minimize device contamination from bacteria, including nontuberculous mycobacteria (NTMs). Most nebulizer manufacturers recommend nebulizer drying, however there is little evidence to understand how nebulizer drying affects NTM survival.

Methods: Mycobacterium abscessus subsp. Read More

Int J Mycobacteriol 2020 Jan-Mar;9(1):48-52

Oxford Adult Cystic Fibrosis Centre, Oxford University Hospitals NHS Foundation Trust; University of Oxford, Oxford, UK.

Background: Treatment of Mycobacterium abscessus pulmonary disease (PD) is challenging with frequent side effects and uncertain rates of success.

Methods: We performed a retrospective review of all patients at our center with at least one respiratory sample positive for M. abscessus between 2014 and 2019. Read More

Arch Oral Biol 2020 May 22;116:104772. Epub 2020 May 22.

Institute of Science and Technology, São Paulo State University/UNESP, Av. Engenheiro Francisco José Longo, 777, São José dos Campos, SP, 12245-000, Brazil. Electronic address:

Objective: This study aimed at assessing the oral prevalence ofCandida species in cystic fibrosis patients and the antifungal susceptibility of the isolates.

Design: One hundred patients aged 3-20 years old were included in the study and were divided into three groups: G1 (low severity disease): 25 cystic fibrosis patients with Shwachman-Kulczycki score (SK) between 100 and 71; G2 (high severity disease): 25 cystic fibrosis patients with SK score under 40; and G3 (control): 50 healthy patients age- and gender-matched to cystic fibrosis patients. Stimulated saliva samples were collected and the oral fungal concentrations were assessed. Read More

Transplant Proc 2020 May 27. Epub 2020 May 27.

Silesian Center for Heart Diseases, Zabrze, Poland.

Background: Lung transplant remains the only viable treatment for certain patients with end-stage lung diseases. Such patients can become either single or double lung recipients. The 2 procedures are associated with specific risks and benefits. Read More

J Cyst Fibros 2020 May 26. Epub 2020 May 26.

Saint Joseph Health System, 611 E Douglas Road, Mishawaka, IN 46545, USA. Electronic address:

Elexacaftor/tezacaftor/ivacaftor (Trikafta) was approved by the Food and Drug Administration in October 2019 for treatment of cystic fibrosis (CF) in patients 12 years and older with at least one F508del mutation in the CFTR protein. There were no documented reports of testicular pain during clinical trials. In this case series, we discuss 7 males between 17 and 39 years of age who reported testicular pain or discomfort within the first two weeks of starting therapy. Read More

Arch Argent Pediatr 2020 Jun;118(3):e338-e341

Universidad Autónoma de Nuevo León, Facultad de Medicina y Hospital Universitario "Dr. José Eleuterio González".

Intestinal intussusception occurs when a proximal segment of the intestine telescopes into the lumen of an adjacent distal segment, causing intestinal obstruction. It is a common cause of acute abdomen in the first two years of life, but rare in older children. A 16-year-old male with a diagnosis of cystic fibrosis presented with symptoms compatible with distal intestinal occlusion syndrome. Read More

Pediatr Pulmonol 2020 May 29. Epub 2020 May 29.

School of Public Health, Physiotherapy and Population Science, University College Dublin, Ireland.

The introduction of NBS in ROI in July 2011 provided a unique opportunity to investigate clinical outcomes using a comparative historical cohort study. Clinical cohort: children clinically diagnosed with CF born 01/07/2008-30/06/2011, and NBS cohort: children diagnosed with CF through NBS born 01/07/2011-30/06/2016. Clinical data was collected from the CF Registry of Ireland, medical charts and data on weight/height prior to diagnosis from public health nurses and family doctors. Read More

PLoS One 2020 29;15(5):e0233439. Epub 2020 May 29.

Laboratoire Signalisation et Transports Ioniques Membranaires, Université de Poitiers, Poitiers, France.

In epithelial cells, the cystic fibrosis transmembrane conductance regulator (CFTR), a cAMP-regulated Cl- channel, plays a key role in water and electrolytes secretion. A dysfunctional CFTR leads to the dehydration of the external environment of the cells and to the production of viscous mucus in the airways of cystic fibrosis patients. Here, we applied the quadriwave lateral shearing interferometry (QWLSI), a quantitative phase imaging technique based on the measurement of the light wave shift when passing through a living sample, to study water transport regulation in human airway epithelial CFBE and CHO cells expressing wild-type, G551D- and F508del-CFTR. Read More

Respir Med 2020 Jul 30;168:105992. Epub 2020 Apr 30.

Department of Internal Medicine V - Pulmonology, Allergology, Critical Care Medicine, Saarland University Hospital, Homburg, Germany. Electronic address:

Background: Quality of life (QOL) is an important patient-related outcome (PRO) in patients with cystic fibrosis (CF). There are several QOL questionnaires like the "Cystic Fibrosis Questionnaire Revised" (CFQ-R) or the "St George's Respiratory Questionnaire" (SGRQ) that are well validated in CF. The aim of the study was to evaluate whether the easily applicable "COPD assessment test" (CAT) can be used in CF patients. Read More

J Thromb Haemost 2020 May 28. Epub 2020 May 28.

Department of Biology, University of Puerto Rico- Rio Piedras- Molecular Science Research Center, San Juan, Puerto Rico.

Food Res Int 2020 Jul 28;133:109198. Epub 2020 Mar 28.

Instituto de Ingeniería de Alimentos para el Desarrollo - Universitat Politècnica de València, Camino de Vera s/n, 46022 Valencia, Spain.

Unveiling mechanisms underpinning nutrient digestion has raised interest in the field of medical sciences for their potential application in clinical treatments. In the case of Cystic Fibrosis (CF), there exists an urgent need for understanding food lipid digestion to establish a criterion to adjust the dose of pancreatic enzyme supplements; patients have to take the supplements to allow digestion, given the associated exocrine pancreatic insufficiency (EPI). The aim of MyCyFAPP Project was to establish an evidence-based method to adjust pancreatic enzyme replacement therapy. Read More