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Children
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Cystic Fibrosis in Children
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Cystic Fibrosis in Children

A special issue of Children (ISSN 2227-9067). This special issue belongs to the section "Pediatric Pulmonary and Sleep Medicine".

Deadline for manuscript submissions: closed (20 May 2023) | Viewed by 7765

Special Issue Editors

Dr. Valentina Fainardi

E-Mail Website
Guest Editor
Pediatric Clinic, Pietro Barilla Children’s Hospital, University of Parma, 43126 Parma, Italy
Interests: cystic fibrosis; lung function; pediatric asthma; bronchiectasis
Dr. Prasad Nagakumar

E-Mail Website
Guest Editor
Department of Paediatric Respiratory Medicine and Cystic Fibrosis, Birmingham Women’s and Children’s Hospital, Birmingham B4 6NH, UK
Interests: asthma management; pulmonary medicine; allergic diseases in children; cystic fibrosis
Dr. Giovanna Pisi

E-Mail Website
Guest Editor
Cystic Fibrosis Unit, Pediatric Clinic, Department of Medicine and Surgery, University of Parma, 43126 Parma, Italy
Interests: children immunity; cystic fibrosis

Special Issue Information

Dear Colleagues,

Cystic fibrosis (CF) is a life-threatening autosomal recessive disorder due to mutations in the CF Transmembrane Conductance Regulator (CFTR) gene. CF is a multi-organ disease but the major cause of morbidity and mortality in patients with this disease are respiratory infections and eventually the destruction of lung parenchyma. The most recent and impressive development in CF research is CFTR modulators that can potentially change the evolution of the disease in the majority of patients. In this Special Issue of the journal, some interesting topics will be addressed: screening of the disease, the innovatove approach of modulators and alternative options for people with mutations not suitable to CFTR modulators such as organoids, adherence to therapy and the future of telemedicine, CF and COVID19 infection, new frontiers in lung imaging, the role of physical exercise and nutrition, the importance of a multi-disciplinary approach.

Dr. Valentina Fainardi
Dr. Prasad Nagakumar
Dr. Giovanna Pisi
Guest Editors

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Children is an international peer-reviewed open access monthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2400 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • CFTR genotype
  • COVID-19
  • CFTR modulators
  • organoids
  • infection prevention and anti-infective treatments
  • diabetes in CF
  • airway clearance
  • nutritional interventions
  • exercise in CF patients
  • newborn screening, pregnancy and genetic counselling
  • adherence to treatment
  • telemedicine
  • development of novel therapies for CF

Published Papers (4 papers)

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Research

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10 pages, 258 KiB  
Article
CFTR-Related Metabolic Syndrome: Genetic Variants Increasing Pancreatitis Risk in the Pediatric Puerto Rican Population
by Jesús M. Meléndez-Montañez and Wilfredo De Jesús-Rojas
Children 2023, 10(2), 280; https://doi.org/10.3390/children10020280 - 31 Jan 2023
Viewed by 1533
Abstract
CFTR-related metabolic syndrome (CRMS) is a novel diagnosis due to widespread use of and advances in the newborn screening (NBS) process for cystic fibrosis (CF) in the United States of America, allowing for the diagnosis of asymptomatic children with CF. Before 2015, [...] Read more.
CFTR-related metabolic syndrome (CRMS) is a novel diagnosis due to widespread use of and advances in the newborn screening (NBS) process for cystic fibrosis (CF) in the United States of America, allowing for the diagnosis of asymptomatic children with CF. Before 2015, a large Puerto Rican pediatric population was not screened for CF in the NBS test. Studies have shown that patients presenting with idiopathic recurrent or chronic pancreatitis have an increased frequency of cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations. We present a retrospective chart review of 12 pediatric cases (n = 12) that were presented to an outpatient community clinic with clinical manifestations associated with CF. The pancreatic insufficiency prevalence (PIP) score was calculated on CFTR mutations. The mutations considered for the calculation of the PIP score were: F508del (c.1521_1523del), V201M (c.601G > A), I507del (c.1519_1521del), and L1335P (c.4004T > C). V201M mutation was classified as mild in both PIP scores, and a correlation with pancreatitis was noted. Clinical manifestations vary in cases with the V201M variant (c.601G > A). One case was diagnosed with CFTR-related disorder (CRD) and recurrent pancreatitis. It is important to consider CRMS or CRD as a differential diagnosis in the pediatric population of Puerto Rico due to the implications and increased risk of pancreatitis and other CF-related complications. Full article
(This article belongs to the Special Issue Cystic Fibrosis in Children)
7 pages, 252 KiB  
Article
Multidrug-Resistant Bacteria in Children and Adolescents with Cystic Fibrosis
by Valentina Fainardi, Cosimo Neglia, Maria Muscarà, Cinzia Spaggiari, Marco Tornesello, Roberto Grandinetti, Alberto Argentiero, Adriana Calderaro, Susanna Esposito and Giovanna Pisi
Children 2022, 9(9), 1330; https://doi.org/10.3390/children9091330 - 01 Sep 2022
Cited by 9 | Viewed by 1627
Abstract
In patients with cystic fibrosis (CF), multidrug-resistant (MDR) bacteria can predispose to exacerbations, limit the effectiveness of antibiotic treatments and promote the progression of lung disease. The aim of this retrospective study was to compare pulmonary exacerbations (Pex), hospitalizations, lung function and nutritional [...] Read more.
In patients with cystic fibrosis (CF), multidrug-resistant (MDR) bacteria can predispose to exacerbations, limit the effectiveness of antibiotic treatments and promote the progression of lung disease. The aim of this retrospective study was to compare pulmonary exacerbations (Pex), hospitalizations, lung function and nutritional status in a group of children and adolescents with CF colonized by MDR bacteria and in a noncolonized control group. Overall, 7/54 pediatric patients (12.9%) were colonized by MDR bacteria and enrolled (3 with Achromobacter xyloxidans, 3 with Stenotrophomonas maltophilia and 1 with Burkholderia cepacia). The control group included 14 sex- and age-matched CF patients (8/14 colonized by Staphylococcus aureus, 2/14 by Pseudomonas aeruginosa, 2/14 by both microorganisms and 2/14 germ free). At the time of enrollment and 12 months before the first detection of the MDR microorganism, children colonized by MDR bacteria showed lower body mass index (BMI) and lower FEV1/FVC compared to the control group. Over the previous year before the first detection, children colonized with MDR had more Pex compared to control group; those colonized by S. maltophilia experienced the highest number of Pex. In the 12 months following the first detection of MDR bacteria, all seven patients colonized by MDR had at least one Pex and patients colonized by S. maltophilia had the highest number (mean ± SD: 6 ± 2.6 vs. 1.7 ± 2.3). Our study suggests that CF pediatric patients infected by MDR bacteria have lower BMI, more obstructive disease and experience more exacerbations than patients without MDR bacteria. These differences are present even before being infected, suggesting that children and adolescents with more severe disease are predisposed to be colonized by MDR bacteria. S. maltophilia appeared to be the most aggressive pathogen. Further studies and the implementation of antimicrobial stewardship programs are necessary to clarify when and how to treat patients with CF and MDR bacteria in order to avoid the improper use of antibiotics and the development of antibiotic resistance. Full article
(This article belongs to the Special Issue Cystic Fibrosis in Children)

Review

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15 pages, 984 KiB  
Review
Organoid Technology and Its Role for Theratyping Applications in Cystic Fibrosis
by Jessica Conti, Claudio Sorio and Paola Melotti
Children 2023, 10(1), 4; https://doi.org/10.3390/children10010004 - 20 Dec 2022
Cited by 3 | Viewed by 1953
Abstract
Cystic fibrosis (CF) is a autosomal recessive, multisystemic disease caused by different mutations in the CFTR gene encoding CF transmembrane conductance regulator. Although symptom management is important to avoid complications, the approval of CFTR modulator drugs in the clinic has demonstrated significant improvements [...] Read more.
Cystic fibrosis (CF) is a autosomal recessive, multisystemic disease caused by different mutations in the CFTR gene encoding CF transmembrane conductance regulator. Although symptom management is important to avoid complications, the approval of CFTR modulator drugs in the clinic has demonstrated significant improvements by targeting the primary molecular defect of CF and thereby preventing problems related to CFTR deficiency or dysfunction. CFTR modulator therapies have positively changed the patients’ quality of life, especially for those who start their use at the onset of the disease. Due to early diagnosis with the implementation of newborn screening programs and considerable progress in the treatment options, nowadays pediatric mortality was dramatically reduced. In any case, the main obstacle to treat CF is to predict the drug response of patients due to genetic complexity and heterogeneity. Advances in 3D culture systems have led to the extrapolation of disease modeling and individual drug response in vitro by producing mini organs called “organoids” easily obtained from nasal and rectal mucosa biopsies. In this review, we focus primarily on patient-derived intestinal organoids used as in vitro model for CF disease. Organoids combine high-validity of outcomes with a high throughput, thus enabling CF disease classification, drug development and treatment optimization in a personalized manner. Full article
(This article belongs to the Special Issue Cystic Fibrosis in Children)
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14 pages, 528 KiB  
Review
Going the Extra Mile: Why Clinical Research in Cystic Fibrosis Must Include Children
by Rebecca Dobra, Siân Bentley, Claire Edmondson, Maxine Ovens, Clare Saunders, Christopher Short, Gemma Wilson, Jane C. Davies and Andrew Bush
Children 2022, 9(7), 1080; https://doi.org/10.3390/children9071080 - 20 Jul 2022
Cited by 3 | Viewed by 1919
Abstract
This is an exciting time for research and novel drug development in cystic fibrosis. However, rarely has the adage, “Children are not just little adults” been more relevant. This article is divided into two main sections. In the first, we explore why it [...] Read more.
This is an exciting time for research and novel drug development in cystic fibrosis. However, rarely has the adage, “Children are not just little adults” been more relevant. This article is divided into two main sections. In the first, we explore why it is important to involve children in research. We discuss the potential benefits of understanding a disease and its treatment in children, and we highlight that children have the same legal and ethical right to evidence-based therapy as adults. Additionally, we discuss why extrapolation from adults may be inappropriate, for example, medication pharmacokinetics may be different in children, and there may be unpredictable adverse effects. In the second part, we discuss how to involve children and their families in research. We outline the importance and the complexities of selecting appropriate outcome measures, and we discuss the role co-design may have in improving the involvement of children. We highlight the importance of appropriate staffing and resourcing, and we outline some of the common challenges and possible solutions, including practical tips on obtaining consent/assent in children and adolescents. We conclude that it is unethical to simply rely on extrapolation from adult studies because research in young children is challenging and that research should be seen as a normal part of the paediatric therapeutic journey. Full article
(This article belongs to the Special Issue Cystic Fibrosis in Children)
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