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Am J Pathol 2019 Jan 14. Epub 2019 Jan 14.

Touchstone Diabetes Center, Department of Internal Medicine. Electronic address:

Syntrophins are a family of proteins forming membrane-anchored scaffolds and serving as adaptors for various transmembrane and intracellular signaling molecules. To understand the physiological roles of β1 syntrophin, one of the least characterized members, we generated mouse models to eliminate β1 syntrophin specifically in the endocrine or exocrine pancreas. β1 syntrophin is dispensable for the morphology and function of insulin-producing β-cells. Read More

Am J Physiol Gastrointest Liver Physiol 2019 Jan 17. Epub 2019 Jan 17.

Section of Molecular Metabolism and Nutrition, Laboratory of Pediatrics, University of Groningen, Netherlands.

The gastrointestinal phenotype of cystic fibrosis (CF) features intestinal bile acid (BA) malabsorption, impaired intestinal farnesoid X receptor (FXR) activation and consequently reduced fibroblast growth factor 19 (FGF19, FGF15 in mice) production. The osmotic laxative polyethylene glycol (PEG) has been shown to decrease intestinal mucus accumulation in CF mice and could, by doing so, improve BA reabsorption. Here we determined the effect of PEG on BA excretion and FXR-FGF15 signaling in CF mice. Read More

Pediatr Pulmonol 2019 Jan 16. Epub 2019 Jan 16.

Unité de Pneumologie Pédiatrique, CHU Timone Enfants, Marseille, France.

Bronchiectasis is a rare chronic airway disease arising from several respiratory and systemic diseases. The grade of evidence for specific treatment of childhood bronchiectasis unrelated to cystic fibrosis (CF) is low with very few randomized controlled trials. Treatment has been based mainly on evidence from studies in adults with non-cystic fibrosis bronchiectasis and patients with cystic fibrosis. Read More

Chemistry 2019 Jan 16. Epub 2019 Jan 16.

Berry College, Chemistry and Biochemistry, 2277 Martha Berry Hwy, 30165, Mount Berry, UNITED STATES.

The 1,2,3-triazole has been successfully utilized as an amide bioisostere in multiple therapeutic contexts. Based on this precedent, triazole analogs derived from VX-809 and VX-770, prominent amide-containing modulators of the cystic fibrosis transmembrane conductance regulator (CFTR), were synthesized and evaluated for CFTR modulation. Triazole 11, derived from VX-809, displayed markedly reduced efficacy in F508del-CFTR correction in cellular TECC assays in comparison to VX-809. Read More

Drug Saf 2019 Jan 16. Epub 2019 Jan 16.

Oklahoma Foundation for Digestive Research, 1813 Coventry Lane, Oklahoma City, OK, 73120, USA.

Plecanatide, a uroguanylin analog, activates the guanylate cyclase C receptors in the epithelial lining of the gastrointestinal tract in a pH-dependent fashion initiating (1) the conversion of intracellular guanosine triphosphate to cyclic guanosine monophosphate, which increases the activity of the cystic fibrosis transmembrane conductance regulator to increase chloride and bicarbonate secretion into the intestinal lumen and (2) a decrease in activity of the sodium-hydrogen ion exchanger. The resulting ionic shifts cause an increase in lumenal fluid to facilitate digestion. Plecanatide has been approved by the FDA for use in chronic idiopathic constipation (CIC) and irritable bowel syndrome with constipation. Read More

J Antimicrob Chemother 2019 Jan 11. Epub 2019 Jan 11.

The Leeds Regional Adult Cystic Fibrosis Centre, St James's University Hospital, Leeds Teaching Hospital NHS Trust, Leeds, UK.

Background: The efficacy of antibiotic treatment in pulmonary and systemic infections in cystic fibrosis (CF) is limited by the increased prevalence of MDR strains of Pseudomonas aeruginosa and Burkholderia cepacia complex. Ceftazidime/avibactam is a new combination which, in vitro, appears to have good activity against MDR strains of P. aeruginosa and B. Read More

Med Sci (Basel) 2019 Jan 14;7(1). Epub 2019 Jan 14.

Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Internal Medicine Department, Respiratory unit and Adult Cystic Fibrosis Center, 20122 Milan, Italy.

Community-acquired pneumonia (CAP) is a leading cause of mortality worldwide. CAP mortality is driven by the development of sepsis and acute respiratory failure (ARF). We performed a systematic review of the available English literature published in the period 1 January 1997 to 31 August 2017 and focused on ARF in CAP. Read More

EMBO J 2019 Jan 14. Epub 2019 Jan 14.

Oncode Institute, Hubrecht Institute-KNAW and UMC Utrecht, Utrecht, The Netherlands

Organoids are self-organizing 3D structures grown from stem cells that recapitulate essential aspects of organ structure and function. Here, we describe a method to establish long-term-expanding human airway organoids from broncho-alveolar resections or lavage material. The pseudostratified airway organoids consist of basal cells, functional multi-ciliated cells, mucus-producing secretory cells, and CC10-secreting club cells. Read More

J Bacteriol 2019 Jan 14. Epub 2019 Jan 14.

Department of Molecular Biology and Biochemistry, University of California, Irvine, California, USA

The airway fluids of cystic fibrosis (CF) patients contain local pH gradients and are more acidic than that of healthy indviduals. pH is a critical factor that is often overlooked in studies seeking to recapitulate the infection microenvironment. We sought to determine the impact of pH on the physiology of a ubiqituous yet understudied microbe, Phylogenomics was first used to reconstruct evolutionary relationships between 74 strains of (59 from CF patients). Read More

J Cyst Fibros 2019 Jan 11. Epub 2019 Jan 11.

Department of Biostatistics and Informatics, University of Colorado School of Public Health, USA; Department of Pediatrics, Children's Hospital Colorado, University of Colorado Anschutz Medical Center, Aurora, CO, USA.

Background: Pulmonary exacerbations (PEx) are important contributors to morbidity and mortality in cystic fibrosis (CF). Understanding risk factors for PEx is critical to improve treatment; pulmonary exacerbations also serve as an important outcome in CF clinical trials. Current risk estimates generally only evaluate time to the first PEx. Read More

Nutrients 2019 Jan 11;11(1). Epub 2019 Jan 11.

Department of Paediatrics of the Faculty of Medicine, Valladolid University; Section of Gastroenterology and Pediatric Nutrition, University Clinical Hospital of Valladolid, Avenida Ramón y Cajal, 7, 47005Valladolid, Spain.

Background: Zinc is an essential nutrient for all forms of life and its deficiency affects the normal growth and development of human beings.

Objective: The main aim was to investigate zinc nutritional status by serum zinc concentration (SZC) and dietary zinc intake and their association in cystic fibrosis (CF) patients.

Methods: A cross-sectional study was conducted in CF patients. Read More

Genes (Basel) 2019 Jan 11;10(1). Epub 2019 Jan 11.

Translational Medicine Program, Hospital for Sick Children Research Institute, 686 Bay Street, Toronto, ON M5G 0A4, Canada.

Cystic fibrosis (CF) is an inherited monogenic disorder, amenable to gene-based therapies. Because CF lung disease is currently the major cause of mortality and morbidity, and the lung airway is readily accessible to gene delivery, the major CF gene therapy effort at present is directed to the lung. Although airway epithelial cells are renewed slowly, permanent gene correction through gene editing or targeting in airway stem cells is needed to perpetuate the therapeutic effect. Read More

F1000Res 2018 28;7. Epub 2018 Jun 28.

Division of Gastroenterology and Hepatology, University of Michigan School of Medicine, Ann Arbor, MI, 48109, USA.

This review highlights advances made in recent years in the diagnosis and management of acute pancreatitis (AP). We focus on epidemiological, clinical, and management aspects of AP. Additionally, we discuss the role of using risk stratification tools to guide clinical decision making. Read More

Int J Pharm 2019 Jan 11. Epub 2019 Jan 11.

Department of Chemistry, University of Torino, Italy.

Recently, promising strategies of plexes include the complexation of nucleic acids with lipids (lipoplexes) and different kinds of polymers (polyplexes) for delivery of actives and genetic material in abnormal conditions like cancer, cystic fibrosis and genetic disorders. The present review article focuses on the comparative aspects of lipoplexes and polyplexes associated with molecular structure, cellular transportation and formulation aspects. The major advantages of lipoplexes and polyplexes over conventional liposomes involve non-immunogenic viral gene transfer, facile manufacturing and preservation of genetic material encapsulated within the nanocarriers. Read More

PLoS One 2019 14;14(1):e0210929. Epub 2019 Jan 14.

[This corrects the article DOI: 10.1371/journal.pone. Read More

J Pediatr Gastroenterol Nutr 2018 Oct 29. Epub 2018 Oct 29.

Department of Pediatrics Lady Davis Carmel Medical Center.

Objectives: In all patients with cystic fibrosis (CF), gastrointestinal (GI) tract cystic fibrosis transmembrane conductance regulator (CFTR) dysfunction occurs early in life. .The identical pathophysiological triad of obstruction, infection and inflammation causes disease of the airways and in the intestinal tract (CF enteropathy). Read More

Am J Respir Crit Care Med 2018 Dec;198(12):e116-e136

Background: Thousands of biomarker tests are either available or under development for lung diseases. In many cases, adoption of these tests into clinical practice is outpacing the generation and evaluation of sufficient data to determine clinical utility and ability to improve health outcomes. There is a need for a systematically organized report that provides guidance on how to understand and evaluate use of biomarker tests for lung diseases. Read More

A A Pract 2019 Jan 10. Epub 2019 Jan 10.

From the Department of Anesthesia, Mt. Sinai Hospital-Sinai Health System, University of Toronto, Toronto, Ontario, Canada.

Transnasal humidified rapid-insufflation ventilatory exchange is a recently described technique for safer management of difficult airways and a novel ventilation technique under anesthesia. Its full potential in patient safety and benefits are still being investigated. We describe the use of transnasal humidified rapid-insufflation ventilatory exchange for deep sedation during dental extractions in a patient with severe cystic fibrosis as a precondition for lung transplantation. Read More

J Allergy Clin Immunol Pract 2019 Jan 9. Epub 2019 Jan 9.

Health Economics and Outcomes Research, Optum, Inc., Eden Prairie, MN.

Background: While efficacy and safety of fluticasone furoate/vilanterol (FF/VI) and budesonide/formoterol (BUD/F) have been demonstrated in clinical studies, real-world comparisons of utilization has not been performed.

Objective: Compare similar asthma patients initiating FF/VI or BUD/F on measures of adherence, persistence, and the asthma medication ratio (AMR).

Methods: This was a retrospective cohort study of commercial and Medicare Advantage with Part D enrollees initiating FF/VI or BUD/F for asthma. Read More

Cancer Lett 2019 Jan 10. Epub 2019 Jan 10.

Epithelial Cell Biology Research Center, Key Laboratory for Regenerative Medicine of the Ministry of Education of China, School of Biomedical Sciences, Faculty of Medicine, The Chinese University of Hong Kong, Hong Kong SAR, China; Sichuan University-The Chinese University of Hong Kong Joint Laboratory for Reproductive Medicine, West ChinaSecond University Hospital, Sichuan University, Chengdu, 610041, Sichuan, China; Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, West China Second University Hospital, Sichuan University, Chengdu, 610041, Sichuan, China. Electronic address:

Hyperproliferation occurs in a variety of tissues and organs during cystic fibrosis (CF). However, the associated molecular mechanisms remain elusive. We investigated the molecular link between cystic fibrosis transmembrane conductance regulator (CFTR) defects and hyperproliferation, and showed that the length of the entire gastrointestinal tract was longer and the intestinal crypts were deeper in CF mice compared to those in wild-type animals. Read More

J Allergy Clin Immunol 2019 Jan 8. Epub 2019 Jan 8.

Laboratorio di Biologia Molecolare, IRCCS Istituto Giannina. Gaslini, 16147 Genova, Italy. Electronic address:

Macrophage polarization may influence the pathogenesis of many human diseases; however the transcriptional program regulating this process remains poorly characterized. Gharib et al. highlight the high diversity of M1-to-M2 re-polarization exerted by distinct M2 stimuli via transcriptome-based pathway analysis and provide a new approach to phenotype human macrophages in clinically relevant disease states such as cystic fibrosis and asthma. Read More

J Cyst Fibros 2019 Jan 9. Epub 2019 Jan 9.

Department of Infectious Diseases, College of Veterinary Medicine, The University of Georgia, Athens, GA, USA. Electronic address:

Cystic fibrosis (CF) airway disease is characterized by the long-term presence of neutrophil granulocytes. Formation of neutrophil extracellular traps (NETs) and/or autoantibodies directed against extracellular components of NETs are possible contributors to neutrophil-mediated lung damage in CF. The goal of this study was to measure their levels in CF adults compared to healthy controls and subjects with rheumatologic diseases known to develop NET-related autoantibodies and pathologies, rheumatoid arthritis (RA) and systemic lupus erythematosus (SLE). Read More

J Cyst Fibros 2019 Jan 9. Epub 2019 Jan 9.

CHU Lille, Laboratoire de Parasitologie-Mycologie, F-59000 Lille, France; Univ. Lille, CNRS, Inserm, CHU Lille, Institut Pasteur de Lille, U1019 - UMR8204 - CIIL - Center for Infection and Immunity of Lille, F-59000 Lille, France. Electronic address:

Azole-resistant Aspergillus fumigatus (ARAF) has been reported in the domestic environment of patients at risk for aspergillosis. Here, we assessed the mother's and father's homes of an 18-year-old cystic fibrosis patient harbouring chronic colonisation with H285Y CYP51A azole-resistant isolate, in order to explore the link between environmental exposure and ARAF infection. In one dwelling, a very high overall contamination level was found (710-7. Read More

Allergy 2019 Jan 14. Epub 2019 Jan 14.

Allergy Unit, Presidio Columbus, Rome, Italy.

An accurate diagnosis of β-lactam (BL) allergy can reduce patient morbidity and mortality. Our aim is to investigate the availability of BL reagents, their use, and test procedures in different parts of Europe, as well as any differences in the diagnostic workups for evaluating subjects with BL hypersensitivity. A survey was emailed to all members of the EAACI Drug Allergy Interest Group (DAIG) between February-April 2016, the questionnaire was meant to study the management of suspected BL hypersensitivity. Read More

Adv Protein Chem Struct Biol 2019 28;114:61-83. Epub 2018 Nov 28.

The Linderstrøm-Lang Centre for Protein Science, Department of Biology, University of Copenhagen, Copenhagen, Denmark. Electronic address:

The cellular proteome performs highly varied functions to sustain life. Since most of these functions require proteins to fold properly, they can be impaired by mutations that affect protein structure, leading to diseases such as Alzheimer's disease, cystic fibrosis, and Lynch syndrome. The cell has evolved an intricate protein quality control (PQC) system that includes degradation pathways and a multitude of molecular chaperones and co-chaperones, all working together to catalyze the refolding or removal of aberrant proteins. Read More

Cell 2019 Jan;176(1-2):113-126.e15

Department of Medicine, Division of Pulmonary, Allergy, and Critical Care, The University of Alabama at Birmingham, Birmingham, AL 35294, USA; Lung Health Center, The University of Alabama at Birmingham, Birmingham, AL 35294, USA; Program in Protease and Matrix Biology, The University of Alabama at Birmingham, Birmingham, AL 35294, USA; Gregory Fleming James Cystic Fibrosis Research Center, The University of Alabama at Birmingham, Birmingham, AL 35294, USA; Department of Cell, Developmental, and Integrative Biology, The University of Alabama at Birmingham, Birmingham, AL 35294, USA. Electronic address:

Here, we describe a novel pathogenic entity, the activated PMN (polymorphonuclear leukocyte, i.e., neutrophil)-derived exosome. Read More

Immunol Cell Biol 2019 Jan 11. Epub 2019 Jan 11.

School of Medicine, University of Tasmania, Hobart, TAS, Australia.

Cystic fibrosis (CF) is caused by mutations to the CF transmembrane conductance regulator (CFTR) gene. The CFTR is known to be expressed on multiple immune cell subtypes, dendritic cells (DCs), monocytes/macrophages, neutrophils and lymphocytes. We hypothesised that lack of CFTR expression on peripheral blood innate immune cells would result in an altered cell profile in the periphery and that this profile would reflect lung pathology. Read More

J Pediatr Gastroenterol Nutr 2019 Jan 8. Epub 2019 Jan 8.

Pediatric Gastroenterology and Nutrition Institute, Rambam Health Care Campus.

Objectives: Pancreatic insufficiency in children is usually associated with diseases such as cystic fibrosis, Shwachman-Diamond syndrome, or chronic pancreatitis. Fecal elastase-1 is a reliable laboratory test for the diagnosis of exocrine pancreatic insufficiency (EPI). Transient pancreatic insufficiency has been rarely described and data on this entity are lacking in the medical literature. Read More

Pediatr Rheumatol Online J 2019 Jan 10;17(1). Epub 2019 Jan 10.

Department of Pediatrics, University of Texas McGovern Medical School, 6431 Fannin St. MSB 3.228, Houston, TX, USA.

Background: Idiopathic inflammatory myopathies (IIM) are a group of systemic autoimmune disorders primarily affecting skeletal muscle. Pediatric coronary artery dilation is frequently discussed in Kawasaki disease. However, it has yet to be reported in the IIMs or antisynthetase syndrome. Read More

BMC Genomics 2019 Jan 10;20(1):30. Epub 2019 Jan 10.

Transplant Infectious Diseases Unit, University Hospitals of Geneva, Geneva, Switzerland.

Background: Co-colonization by Pseudomonas aeruginosa and Staphylococcus aureus is frequent in cystic fibrosis patients. Polymicrobial infections involve both detrimental and beneficial interactions between different bacterial species. Such interactions potentially indirectly impact the human host through virulence, antibiosis and immunomodulation. Read More

Am J Physiol Gastrointest Liver Physiol 2019 Jan 10. Epub 2019 Jan 10.

Veterinary Biomedical Sciences, University of Saskatchewan, Canada.

Brachyspiraspp. causediarrheal disease in multiple animal species by colonization of the colon, resulting in colitis, mucus induction and disrupted ion transport. Unique to spirochete pathogenesisis the immense production of mucus resulting in a niche mucin environment likely favoring spirochete colonization. Read More

Rev Med Suisse 2019 Jan;15(N° 632-633):96-100

Service de pneumologie, Département des spécialités de médecine, HUG, 1211 Genève 14.

In this review of novel therapies in pulmonary disorders in 2018, we cover 3 different entities. In GINA stage 1 and 2 asthma, new strategies allow a more individualized treatment. In more severe asthma, there is an increasing interest in biotherapies, with dupilumab, an anti-IL-4 receptor, completing the already available panel which includes anti-IgE, anti-IL-5 and anti-IL-5 receptor antibodies. Read More

Microbiologyopen 2019 Jan 9:e774. Epub 2019 Jan 9.

Department of Infection, Immunity and Cardiovascular Disease, The Medical School, The University of Sheffield, Sheffield, UK.

Burkholderia cenocepacia is an opportunistic bacterial pathogen that poses a significant threat to individuals with cystic fibrosis by provoking a strong inflammatory response within the lung. It possesses a type VI secretion system (T6SS), a secretory apparatus that can perforate the cellular membrane of other bacterial species and/or eukaryotic targets, to deliver an arsenal of effector proteins. The B. Read More

Internist (Berl) 2019 Jan 9. Epub 2019 Jan 9.

Sektion Cystische Fibrose, Klinik für Pädiatrie mit Schwerpunkt Pneumologie, Immunologie und Intensivmedizin, Charité - Universitätsmedizin Berlin, Campus Virchow-Klinikum, Augustenburger Platz 1, 13353, Berlin, Deutschland.

Mucoviscidosis or cystic fibrosis (CF) is one of the most frequent monogenetic diseases in middle Europe. It is inherited in an autosomal recessive manner. A defect in the cystic fibrosis transmembrane conductance regulator (CFTR) channel reduces chloride ion transport to the cell membrane, which leads to malfunctions in all exocrine glands. Read More

Int J Respir Pulm Med 2018 29;5(2). Epub 2018 Nov 29.

Department of Molecular Genetics, Biochemistry and Microbiology, University of Cincinnati College of Medicine, Cincinnati, USA.

Cystic fibrosis (CF) and chronic obstructive pulmonary disease (COPD) are chronic pulmonary diseases that affect ~70,000 and 251 million individuals worldwide, respectively. Although these two diseases have distinctly different pathophysiologies, both cause chronic respiratory insufficiency that erodes quality of life and causes significant morbidity and eventually death. In both CF and COPD, the respiratory microbiome plays a major contributing role in disease progression and morbidity. Read More

Tanaffos 2018 Feb;17(2):73-81

Pediatric Respiratory Diseases Research Center, National Research Institute of Tuberculosis and Lung Disease, (NRITLD), Shahid Beheshti University of Medical Sciences, Tehran, Iran.

Background: Cystic Fibrosis (CF) is a life-threatening recessive genetic disorder resulting from mutations in the gene encoding the fibrosis transmembrane conductance regulator protein (CFTR). The CF clinical phenotype shows wide variation ranging from severe disease in early childhood in those homozygous for the p.Phe508del mutation to absence of the vas deferens in otherwise healthy men homozygous for the p. Read More

Tanaffos 2018 Feb;17(2):66-72

Pediatric Respiratory Disease Research Center, NRITLD, Shahid Beheshti University of Medical Sciences, Tehran- Iran.

Cystic Fibrosis (CF) is the most common lethal autosomal recessive disease that affects many organs including, lung, pancreas and liver. Cystic fibrosis is a monogenic disease and occurs in the white Caucasians. Massive neutrophil granulocyte influx in the airways is one of the characteristics of CF. Read More

Biol Pharm Bull 2019 Jan 10. Epub 2019 Jan 10.

Department of Molecular Medicine, Graduate School of Pharmaceutical Sciences, Kumamoto University.

Cystic fibrosis (CF), the most common lethal inherited disorder caused by mutation in the gene encoding the CF transmembrane regulator (CFTR), is characterized by chronic inflammation that ultimately leads to death from respiratory failure. In CF patients, up-regulation of toll-like receptor-2 (TLR2), a pattern recognition receptor that senses CF-pathogenic bacteria Staphylococcus aureus peptidoglycan (PGN), in airway epithelial cells is observed, and enhanced proinflammatory responses towards PGN may result in detrimental effects in CF patients. Here, we showed that curcumin, a well known anti-inflammatory agent derived from the curry spice turmeric, inhibits TLR2 expression in CF bronchial epithelial cell line, CFBE41o- cells. Read More

J Antimicrob Chemother 2019 Jan 8. Epub 2019 Jan 8.

Department of Microbiology and Molecular Genetics, Michigan State University, East Lansing, MI 48824, USA.

Objectives: To assess the ability of oxyclozanide to enhance tobramycin killing of Pseudomonas aeruginosa biofilms and elucidate its mechanism of action.

Methods: Twenty-four hour biofilms formed by the P. aeruginosa strain PAO1 and cystic fibrosis (CF) isolates were tested for susceptibility to oxyclozanide and tobramycin killing using BacTiter-Glo™ and cfu. Read More

J Infect Dis 2019 Jan 8. Epub 2019 Jan 8.

University of South Florida, Tampa, USA.

Background: Cholera toxin (CT)-induced diarrhea is mediated by cAMP-mediated active Cl - secretion via the cystic fibrosis transmembrane conductance regulator (CFTR). Although the constitutive activation of adenylyl cyclase (AC) in response to CT is due to ADP-ribosylation of Gsα activating CFTR with consequent secretory diarrhea, the AC isoform(s) involved remain unknown.

Methods: We generated intestine epithelial cell-specific adenylyl cyclase 6 (AC6) knockout mice to study its role in cholera toxin-induced diarrhea. Read More

Health Sci Rep 2018 Aug 12;1(8):e52. Epub 2018 Jul 12.

Department of Clinical Microbiology Rigshospitalet Denmark.

Background: Chronic lung infection with is the main cause of mortality in patients with cystic fibrosis (CF). Sinus colonization with P. aeruginosa often precedes intermittent lung colonization, and intermittent colonization precedes chronic infection. Read More

Pract Lab Med 2019 Jan 7;13:e00114. Epub 2018 Dec 7.

Laboratoire de Biochimie, Institut Fédératif de Biologie, Hôpital Purpan, 330, av de Grande Bretagne TSA 40031, 31059 Toulouse Cedex 9, France.

Background: Cystic fibrosis (CF) is the less rare and severe genetic disease among the European population. Biochemical diagnosis of CF is based on the demonstration of increased chloride concentration in sweat samples, obtained during the sweat test (ST). WynSep developed a capillary electrophoresis with contactless conductivity detection (CE-C4D) able to measure sweat chloride with a low sample volume. Read More

World J Gastrointest Pathophysiol 2019 Jan;10(1):1-10

Department of Medicine, The University of Melbourne, Melbourne, VIC 3084, Australia.

Chronic liver diseases that inevitably lead to hepatic fibrosis, cirrhosis and/or hepatocellular carcinoma have become a major cause of illness and death worldwide. Among them, cholangiopathies or cholestatic liver diseases comprise a large group of conditions in which injury is primarily focused on the biliary system. These include congenital diseases (such as biliary atresia and cystic fibrosis), acquired diseases (such as primary sclerosing cholangitis and primary biliary cirrhosis), and those that arise from secondary damage to the biliary tree from obstruction, cholangitis or ischaemia. Read More

N C Med J 2019 Jan-Feb;80(1):37-41

cystic fibrosis newborn screening follow-up coordinator, North Carolina Division of Public Health, Raleigh, North Carolina.

Newborn screening identifies infants at increased risk for 50 metabolic conditions that are treatable with early detection. Follow-up links the laboratory result with physician action. Timeliness is essential to ensure affected babies receive treatment and enjoy a healthy and productive life. Read More

J Clin Sleep Med 2019 Jan 3. Epub 2019 Jan 3.

Abstract: Sleep-related rhythmic movement disorder (RMD) is common in very young children but rarely persists beyond childhood. Despite its high frequency, the underlying pathophysiology remains unclear. Familial occurrence is rare. Read More

Int J Environ Res Public Health 2019 Jan 4;16(1). Epub 2019 Jan 4.

Institute of Rare Diseases Research (IIER), Instituto de Salud Carlos III, 28029 Madrid, Spain.

The aim of this study is to analyze population-based mortality attributed to cystic fibrosis (CF) over 36 years in Spain. CF deaths were obtained from the National Statistics Institute, using codes 277.0 from the International Classification of Diseases (ICD) ninth revision (ICD9-CM) and E84 from the tenth revision (ICD10) to determine the underlying cause of death. Read More

PLoS One 2019 8;14(1):e0210201. Epub 2019 Jan 8.

UMR/CNRS 6249 Chrono-Environnement, University of Franche-Comté, Besançon, France.

Pseudomonas aeruginosa is the main cause of chronic airway infection in cystic fibrosis (CF). However, for unclear reasons some patients are never colonized by P. aeruginosa. Read More

Pediatr Pulmonol 2019 Jan 8. Epub 2019 Jan 8.

Division of Pediatric Pulmonology, Miller School of Medicine, University of Miami, Miami, FL.

Cystic Fibrosis Transmembrane Regulator (CFTR) dysfunction is associated with epithelial cell vulnerability and with dysregulation of the local inflammatory responses resulting in excessive airway neutrophilic inflammation and pathogen growth. In combination with impaired mucociliary clearance, and dysregulation of defense function, bacterial infection follows with eventual airway damage and remodeling. Because of these inherent vulnerabilities, viral infections are also more severe and prolonged and appear to render the airway even more prone to bacterial infection. Read More

Headache 2019 Jan 8. Epub 2019 Jan 8.

Department of Human Neurosciences, Sapienza University of Rome, Rome, Italy.

Genetic mutations of sporadic hemiplegic migraine (SHM) are mostly unknown. SHM pathophysiology relies on cortical spreading depression (CSD), which might be responsible for ischemic brain infarction. Cystic fibrosis (CF) is caused by a monogenic mutation of the chlorine transmembrane conductance regulator (CFTR), possibly altering brain excitability. Read More

Front Pediatr 2018 18;6:403. Epub 2018 Dec 18.

Department of Pediatrics, Pediatric Pulmonology and Pediatric Infectious Diseases, Cystic Fibrosis Clinic, Universitair Ziekenhuis Brussel, Vrije Universiteit Brussel, Brussels, Belgium.

Different respiratory sampling methods exist to identify lower airway pathogens in patients with cystic fibrosis (CF), of which bronchoalveolar lavage (BAL), and expectorated sputum are considered the "gold standard." Because BAL cannot be repeated limitless, the diagnosis of lower respiratory tract infections in non-expectorating patients is challenging. Other sampling techniques are nasal swab, cough swab, and induced sputum. Read More