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BMJ Open Respir Res 2022 Apr;9(1)

All Wales Adult Cystic Fibrosis Centre, University Hospital Llandough, Cardiff and Vale University Health Board, Cardiff, UK.

There were respiratory consultant post vacancies in 82% of surveyed UK hospitals in 2021. Understanding respiratory trainees' career intentions is vital to plan and train a future respiratory workforce. In 2020, the British Thoracic Society surveyed trainee members (n=144) to assess career plans and perceived barriers and facilitators when applying for consultant posts. Read More

J Dev Behav Pediatr 2022 May 18. Epub 2022 May 18.

Lakeland Regional Health, Lakeland, FL.

Objective: This study was designed to increase our understanding of parents' experiences managing the needs of their children with cystic fibrosis (CF) and to identify potential gaps in services.

Method: We used grounded dimensional analysis of anonymous survey data obtained from a quality improvement initiative conducted by the Cystic Fibrosis Foundation (CFF). The Patient and Family Experience of Care (PFEC) survey was administered continuously at 125 CF care centers throughout the United States in 2017. Read More

Adv Exp Med Biol 2022 ;1357:43-82

Associate Laboratory, i4HB-Institute for Health and Bioeconomy at Instituto Superior Técnico, University of Lisbon, Brisbane, Australia.

The extensive knowledge in the miniemulsion technique used in biocatalysis applications by the authors allowed the development of drug delivery systems that constitutes the LipNanoCar technology core for the production of lipid nanoemulsions and solid lipid nanoparticles. The LipNanoCar technology, together with adequate formulations of different oils, fatty acids, surfactants, and temperature, allows the entrapment of several bioactive and therapeutic compounds in lipid nanoparticles for cosmetic, nutrition, and pharmaceutical applications.The LIpNanoCar technology allowed lipid nanoparticles production with average sizes ranging from 100 to 300 nm and Zeta Potentials between -55 and -20 mV. Read More

Microbiol Spectr 2022 May 18:e0019222. Epub 2022 May 18.

Université Paris Saclay, UVSQ, Inserm, Infection et Inflammation, Montigny-le-Bretonneux, France.

The immunoglobulin A (IgA) status of cystic fibrosis (CF) patients, presenting with or without a non-tuberculous mycobacterial (NTM) infection, has to date not been fully elucidated toward two antigenic preparations previously described. We have chosen to determine the clinical values of an IgA ELISA for the diagnosis of NTM and/or Mycobacterium abscessus infections in CF patients. One hundred and 73 sera from CF patients, comprising 33 patients with M. Read More

Kidney360 2022 Mar 7;3(3):465-476. Epub 2021 Dec 7.

Division of Nephrology and Hypertension, Department of Medicine, Mayo Clinic, Rochester, Minnesota.

Background: Autosomal dominant polycystic kidney disease (ADPKD) has phenotypic variability only partially explained by established biomarkers that do not readily assess pathologically important factors of inflammation and kidney fibrosis. We evaluated asymptomatic pyuria (AP), a surrogate marker of inflammation, as a biomarker for disease progression.

Methods: We performed a retrospective cohort study of adult patients with ADPKD. Read More

Transplantation 2022 May 18. Epub 2022 May 18.

Department of Biomedical, Experimental and Clinical Sciences "Mario Serio", University of Florence, Florence, Italy.

BMC Pulm Med 2022 May 17;22(1):198. Epub 2022 May 17.

Department of Paediatrics and Adolescent Medicine, Center of Paediatric Pulmonology and Allergology, Aarhus University Hospital, Skejby, Palle Juul-Jensens Boulevard 99, 8200, Aarhus N, Denmark.

Background: Nasal tracheal aspiration (NTA) is a frequently used diagnostic method to assess of infections in the lower airways. However, the validity of the method has not previously been compared to bronchoalveolar lavage (BAL) in non-intubated children with a lung disease. We hypothesised that NTA performed by health professionals using the nares vocal cord distance to be placed at the entrance of the trachea, will result in same finding of bacteria in the lower airways as the gold standard of BAL. Read More

Exp Mol Med 2022 May 17. Epub 2022 May 17.

Departments of Pediatrics, Yale University School of Medicine, New Haven, CT, USA.

Overwhelming neutrophilic inflammation is a leading cause of lung damage in many pulmonary diseases, including cystic fibrosis (CF). The heme oxygenase-1 (HO-1)/carbon monoxide (CO) pathway mediates the resolution of inflammation and is defective in CF-affected macrophages (MΦs). Here, we provide evidence that systemic administration of PP-007, a CO releasing/O transfer agent, induces the expression of HO-1 in a myeloid differentiation factor 88 (MyD88) and phosphatidylinositol 3-kinase (PI3K)/protein kinase B (AKT)-dependent manner. Read More

Respir Care 2022 May 17. Epub 2022 May 17.

Arkansas Children's Hospital Little Rock, Arkansas.

Pediatr Nephrol 2022 May 17. Epub 2022 May 17.

Department of Pediatrics, University of Chieti-Pescara, Chieti, Italy.

Am J Respir Crit Care Med 2022 May 17. Epub 2022 May 17.

The Hospital for Sick Children, Respiratory Medicine, Toronto, Ontario, Canada.

Pediatr Pulmonol 2022 May 16. Epub 2022 May 16.

Cystic Fibrosis Centre, Hospital San Carlo, Potenza, Italy.

It has been shown that elexacaftor/tezacaftor/ivacaftor (ETI) cystic fibrosis transmembrane conductance regulator (CFTR) modulatory treatment is safe and efficacious in cystic fibrosis (CF) patients aged >12 years with at least one F508del CFTR allele. This article is protected by copyright. All rights reserved. Read More

J Cyst Fibros 2022 May 13. Epub 2022 May 13.

Department of Chemistry and Chemical Biology, McMaster University, Canada; Department of Pediatrics, McMaster University, Canada. Electronic address:

Objectives Cystic fibrosis (CF) is a debilitating genetic disorder that benefits from early detection. CF diagnosis relies on measuring elevated sweat chloride that is difficult in neonates with low sweat rates. We introduce a new method for sweat chloride determination from volume-limited specimens, and explore the potential utility of sweat bicarbonate in neonatal CF screening. Read More

Curr Opin Pharmacol 2022 May 13;64:102235. Epub 2022 May 13.

Marsico Lung Institute, University of North Carolina School of Medicine, Chapel Hill, NC, 27599, USA. Electronic address:

Few human genetic diseases can rely on the availability of as many and as diverse animal models as cystic fibrosis (CF), a multiorgan syndrome caused by functional absence of cystic fibrosis transmembrane regulator (CFTR). The recent development of highly effective CFTR modulator drug therapies simultaneously highlighted the remarkable clinical improvement achievable with these treatments, the lack of therapeutic alternatives for non-responders, and the need to understand the kinetics of disease upon early life/chronic treatment. These advances have rekindled efforts to leverage animal models to address critical knowledge gaps in CF. Read More

J Genet Eng Biotechnol 2022 May 16;20(1):72. Epub 2022 May 16.

Department of Biotechnology, Faculty of Engineering and Technology, Rama University, G.T. Road, Kanpur, 209217, India.

Background: Among the most common causes of invasive aspergillosis and acute bronchopulmonary aspergillosis is Aspergillus fumigatus. Transmission with A. fumigatus produces aggressive aspergillosis in allogeneic haematopoietic stem cell transplant recipients, HIV patients, and cancer patients. Read More

Microbiol Spectr 2022 May 16:e0049422. Epub 2022 May 16.

Pirogov Russian National Research Medical University, Moscow, Russia.

Infect Immun 2022 May 16:e0017022. Epub 2022 May 16.

Department of Oral Immunology and Infectious Diseases, University of Louisvillegrid.266623.5, Louisville, Kentucky, USA.

Many pathogenic microbial ecosystems are polymicrobial, and community function can be shaped by interbacterial interactions. Little is known, however, regarding the genetic determinants required for fitness in heterotypic community environments. In periodontal diseases, Porphyromonas gingivalis is a primary pathogen, but only within polymicrobial communities. Read More

Ir Med J 2020 Jul 30;113(7):119. Epub 2020 Jul 30.

Department of Paediatrics and Child Health, Cork University Hospital.

Aims Our aim was to assess if outcomes for cystic fibrosis (CF) patients at six & sixteen years of age have improved in the last 17 years looking at FEV1, BMI and death. Methods A retrospective observational study using a prospectively maintained database of CF patients at Cork University Hospital. Results 84 patients were included in the 16-year-old data and 89 patients were included in the six-year-old data. Read More

Pediatr Pulmonol 2022 May 16. Epub 2022 May 16.

Division of Anesthesia and Critical Care - Department of Human Pathology of the adult and evolutive age "Gaetano Barresi", University of Messina.

Background: The natural history of cystic fibrosis (CF) lung disease is a chronic deterioration of lung function with intermittent episodes of pulmonary infectious exacerbations (PExs). Reliable venous access is a milestone of effective management of such exacerbations, managed both in hospital and outpatient chronic therapy. The aim of our study was to analyse the feasibility of ultrasound-guided positioning of Long Peripheral Catheters (LPC) as reliable mid-term venous access in children affected by CF. Read More

Front Physiol 2022 28;13:884166. Epub 2022 Apr 28.

Department of Medicine, Gregory Fleming James Cystic Fibrosis Research Center, University of Alabama at Birmingham, Birmingham, AL, United States.

Cystic fibrosis (CF) airway disease is characterized by excessive and accumulative mucus in the airways. Mucociliary clearance becomes defective as mucus secretions become hyperconcentrated and viscosity increases. The CFTR-knockout (KO) rat has been previously shown to progressively develop delayed mucociliary transport, secondary to increased viscoelasticity of airway secretions. Read More

Int J Pediatr Adolesc Med 2022 Mar 31;9(1):56-61. Epub 2021 May 31.

Department of Pediatrics, King Faisal Specialist Hospital and Research Center (KFSHRC), Riyadh, Saudi Arabia.

Introduction: Celiac disease (CD) has been described before in Saudi Arabia (SA) to be at the range of 1%-2% in the general population, but the association of celiac disease and cystic fibrosis (CF) has never been described before in the Middle East.

Objectives: To describe the prevalence of the association of CD and CF in patients with gastrointestinal symptomatology in a tertiary care center.

Method: ology: A retrospective charts review of all confirmed CD and CF patients for the years 1989-2018. Read More

Int J Pediatr Adolesc Med 2022 Mar 22;9(1):32-35. Epub 2021 Mar 22.

College of Medicine, AlFaisal University, Riyadh, Saudi Arabia.

Introduction: Meconium ileus (MI) is one of the most common causes of intestinal obstruction in newborns. It is the earliest clinical manifestation of cystic fibrosis (CF). MI is suspected if a baby fails to pass meconium shortly after birth and develops symptoms of bowel obstruction, such as distention of the abdomen or vomiting. Read More

Front Immunol 2022 28;13:880368. Epub 2022 Apr 28.

Department for Children and Adolescents, Division of Allergology, Pulmonology and Cystic Fibrosis, Goethe-University Hospital, Frankfurt am Main, Germany.

Respiratory syncytial virus (RSV) causes a spectrum of respiratory illnesses in infants and young children that may lead to hospitalizations and a substantial number of outpatient visits, which result in a huge economic and healthcare burden. Most hospitalizations happen in otherwise healthy infants, highlighting the need to protect all infants against RSV. Moreover, there is evidence on the association between early-life RSV respiratory illness and recurrent wheezing/asthma-like symptoms As such, RSV is considered a global health priority. Read More

Front Immunol 2022 27;13:885341. Epub 2022 Apr 27.

Department of Medical Microbiology and Infectious Diseases, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, MB, Canada.

The virome constitutes the viral component of the microbiome and it consists of the genomes of all the viruses that inhabit a particular region of the human body, including those that cause acute, persistent or latent infection, and retroviral elements integrated to host chromosomes. The human virome is composed by eukaryotic viruses, bacteriophages and archaeal viruses. The understanding of the virome composition and role on human health has been delayed by the absence of specific tools and techniques to accurately characterize viruses. Read More

Front Pharmacol 2022 27;13:856804. Epub 2022 Apr 27.

CECS, I-Stem, Corbeil-Essonne, France.

Limb-girdle muscular dystrophy type R3 (LGMD R3) is a rare genetic disorder characterized by a progressive proximal muscle weakness and caused by mutations in the gene encoding alpha-sarcoglycan (α-SG). Here, we report the results of a mechanistic screening ascertaining the molecular mechanisms involved in the degradation of the most prevalent misfolded R77C-α-SG protein. We performed a combinatorial study to identify drugs potentializing the effect of a low dose of the proteasome inhibitor bortezomib on the R77C-α-SG degradation inhibition. Read More

Curr Drug Saf 2022 May 13. Epub 2022 May 13.

Cystic Fibrosis Department, "Agia Sofia" Children's Hospital, Athens, Greece.

Background: Lumacaftor/Ivacaftor (LUM/IVA) is an approved combination therapy for cystic fibrosis (CF) patients homozygous for F508del.

Objective: This study aimed to detect changes in liver stiffness measurement (LSM) in patients under this treatment.

Methods: The study population consisted of CF patients homozygous for F508del, 6 to 11 years old, that had been treated for six months with LUM/IVA. Read More

J Huntingtons Dis 2022 May 7. Epub 2022 May 7.

Department of Human Genetics, University of Michigan, Ann Arbor, MI, USA.

Background: Health information-seeking is a coping strategy used globally by individuals with a personal or family history of a medical condition, including Huntington's disease (HD).

Objective: We sought to ascertain information-seeking practices of young people who grew up at-risk for HD.

Methods: Participants ages 18-25 were recruited from HD support organizations. Read More

Pediatr Pulmonol 2022 May 15. Epub 2022 May 15.

University of Iowa Hospitals and Clinics Iowa City, IA, 52242.

More infants have been identified with cystic fibrosis transmembrane conductance regulator (CFTR)-related metabolic syndrome (CRMS) since the implementation of universal newborn screening (NBS) for cystic fibrosis (CF) This article is protected by copyright. All rights reserved. Read More

Paediatr Drugs 2022 May 16. Epub 2022 May 16.

Department of Paediatric Respiratory Medicine, Royal Brompton Hospital, Sydney Street, London, SW3 6NP, UK.

Over the past decade there have been significant developments in the field of Cystic Fibrosis Transmembrane Regulator modulator drugs. Following treatment in patients with cystic fibrosis with common gating mutations using the potentiator drug ivacaftor, successive development of corrector drugs used in combination has led to highly effective modulator therapy being available to more than 85% of the cystic fibrosis population over 12 years of age in the form of elexacaftor/tezacaftor/ivacaftor. In this article, we review the evidence from clinical trials and mounting real-world observational and registry data that demonstrates the impact highly effective modulators have on both pulmonary and extra-pulmonary manifestations of cystic fibrosis. Read More

Biochim Biophys Acta Proteins Proteom 2022 May 12:140792. Epub 2022 May 12.

School of Basic Medicine, Jiamusi University, Jiamusi, Heilongjiang 154007, China. Electronic address:

As a misfolding protein, almost all of F508del-CFTR is degraded by the ubiquitin-proteasome system before its maturation, which results in no membrane expression of cystic fibrosis transmembrane conductance regulator (CFTR) and therefore, no chloride secretion across epithelial cells of cystic fibrosis (CF) patients. The conjugation of ubiquitin (Ub) chains to protein substrates is necessary for the proteasomal degradation of F508del-CFTR. Ubiquitin contains seven lysine (K) residues, all of which can be conjugated to one another, forming poly-ubiquitin chains on substrates, either by mixing together, or by only one type of lysine providing sorting signals for different pathways. Read More