cystic fibroses

BACKGROUND: Cystic fibrosis (CF) is a complex systemic disease involving numerous organ systems. With improved treatment options and increasing life expectancy of persons with CF (PwCF), extrapulmonary manifestations are coming increasingly into the focus. From birth, almost all PwCF have radiologically detectable pathologies in the upper airways attributable to CF-associated chronic rhinosinusitis (CF-CRS). OBJECTIVE: The aim of this work is to provide an up-to-date overview of CF-CRS from the otorhinolaryngology perspective and to provide the reader with background knowledge and current developments...

BACKGROUND: Massive hemoptysis (MH) is a rare but potentially life-threatening condition of patients with mainly advanced cystic fibrosis (CF). Morphological lung changes are aggravated with disease progression. The aim of this study was to determine whether morphological lung changes differ between patients with CF (pwCF) who have MH and pwCF without MH. METHODS: Chest computed tomography (CT) scans of pwCF and MH acquired at a maximum of 4 months prior to MH (1/2008 to 2/2015) were evaluated for morphological changes and bronchial artery (BA) diameters...

BACKGROUND: Once daily intravenous (iv) treatment with tobramycin for Pseudomonas aeruginosa infection in patients with cystic fibrosis (pwCF) is frequently monitored by measuring tobramycin trough levels (TLs). Although the necessity of these TLs is recently questioned in pwCF without renal impairment, no study has evaluated this so far. The aim of this observational study was to evaluate the frequency of increased tobramycin TLs in pwCF treated with a once daily tobramycin dosing protocol...

The opportunistic black yeast-like fungus Exophiala dermatitidis frequently colonizes the respiratory tract of cystic fibroses (CF) patients. Additionally, it can cause superficial, systemic, and cerebral forms of phaeohyphomycoses. The objective of this study was to develop and apply a microsatellite or short tandem repeat (STR) genotyping scheme for E. dermatitidis. In total, 82 E. dermatitidis isolates from various geographic origins (environmental = 9, CF = 63, invasive isolates = 9, melanin-deficient mutant = 1) were included in this study...

Pulmonary aspergillosis is a group of mycotic diseases affecting the lungs. The form of the disease mainly depends on the immune status of the patient and underlying conditions. Invasive pulmonary aspergillosis usually affects immunocompromised patients - angio-invasive and airway-invasive forms are possible. Chronic aspergillosis usually appears in mildly immunosuppressed or immunocompetent patients with underlying structural lung changes and may have diverse forms: simple aspergilloma, chronic cavitary pulmonary aspergillosis, chronic fibrosing pulmonary aspergillosis, subacute invasive pulmonary aspergillosis, aspergillus nodules and endobronchial aspergilloma...

BACKGROUND: High daily doses of pancreatic enzyme replacement therapy (PERT) were historically associated with risk of fibrosing colonopathy (FC) in people with cystic fibrosis (pwCF), leading to development of PERT dosing guidelines and reformulated products. This study quantified incidence of FC in pwCF treated with PERT following those measures. METHODS: This large prospective cohort study included eligible pwCF enrolled in the Cystic Fibrosis Foundation Patient Registry with ≥1 clinic visit in 2012-2014 and follow-up through 2020...

Cystic fibrosis is the most common lethal genetic disease in the white population, affecting approximately 80 000 people worldwide. It is an autosomal recessive, monogenic, and multisystemic disease, with over 2000 mutations described in the CFTR protein gene. The dysfunction of this protein leads to a decrease in the secretion of chlorine and bicarbonate, sodium hyperabsorption, and consequent water absorption, resulting in the thickening of secretions and accumulation of pathogens. These changes culminate in inflammation, chronic pulmonary infection, and recurrent exacerbations, with lung disease being the main cause of morbidity and mortality...

Fibrosing colonopathy is a unique pathology characterized by long segment stricture, usually of the ileocecal region. Historically, it is most commonly described in patients with cystic fibrosis (CF). Fibrosing colonopathy is felt to be secondary to excessive doses of exogenous lipase medication. This condition is rarely seen in the last decade. In this case presentation, fibrosing colonopathy was identified in a patient with the lysosomal storage disorder of cystinosis. Fibrosing colonopathy has not previously been described in patients with cystinosis...

UNLABELLED: Cystic fibrosis is an autosomal recessive disorder that causes a broad range of clinical findings and can present unusually as electrolyte disturbance, such as hyponatremia that causes seizures in children. CASE PRESENTATION: We report a case of a 2-month-old infant who presented with an episode of grand mal seizure induced by hyponatremia and moderate episodes of milky vomiting after breastfeeding. CLINICAL DISCUSSION: Proper investigations showed normal cardiac and renal functions...

Cystic fibrosis (CF) is a chronic condition requiring continued input from the CF dietitian as an integral part of the CF multidisciplinary team. In recent years, the longer life expectancy experienced by people with CF (PwCF) means that nutrition advice and therapy are evolving from a focus on nutrition support to prevention and management of comorbidities. Little has been reported regarding the perceived role of the CF dietitian amongst PwCF. We report the responses to 11 questions that were part of a larger international survey distributed to members of national CF charities in 2018-2019...

OBJECTIVES: Our aim in this study was to identify challenges and gaps in Canadian practices in screening, diagnosis and treatment of cystic fibrosis-related diabetes (CFRD), with the goal of informing a Canadian-specific guideline for CFRD. METHODS: We conducted an online survey of health-care professionals (97 physicians and 44 allied health professionals) who care for people living with CF (pwCF) and/or CFRD (pwCFRD). RESULTS: Most pediatric centres followed <10 pwCFRD and adult centres followed >10 pwCFRD...

BACKGROUND: Pseudomonas aeruginosa (Pa) continues to affect disease progression in cystic fibrosis (CF). However, the best eradication regimen remains unclear. This work compares three different antibiotic eradication regimens in pediatric CF: an administration according to a standard-operating procedure (SOP) order vs. administration outside of this order (ooSOP). METHODS: This observational study includes all CF patients<18 years who received one of three Pa eradication treatments in the past eight years at our center: 1) inhaled high-dose tobramycin (Hi-TOBI), 2) inhaled colistin+oral ciprofloxacin (COL/Cip), 3) inhaled low-dose tobramycin+4 intravenous 14-day Pa active antibiotic treatments (lo-Tobra/IV)...

No abstract text is available yet for this article.

Background: Elevated expression of human epididymis protein 4 (HE4) was previously described in connective tissue disease-associated interstitial lung diseases (CTD-ILDs) and cystic fibrosis (CF), but the clinical significance of HE4 has remained unknown in idiopathic pulmonary fibrosis (IPF), which is a progressive fibrosing ILD with a heterogeneous course that is in urgent need of reliable biomarkers in its clinical practice. Methods: A total of 27 IPF patients with acute exacerbation status (AE-IPF), 32 IPF patients with stable status (S-IPF), and 29 sex-age matched healthy controls were retrospectively included...

Background: The coronavirus disease 2019 (COVID-19) becomes a worldwide public health threat. Increasing evidence proves that COVID-19-induced acute injuries could be reversed by a couple of therapies. After that, post-COVID-19 fibrosis (PCF), a sequela of "Long COVID," earns rapidly emerging concerns. PCF is associated with deteriorative lung function and worse quality of life. But the process of PCF remains speculative. Therefore, we aim to conduct a bibliometric analysis to explore the overall structure, hotspots, and trend topics of PCF...

BACKGROUND: Chronic bacterial infections of the airways are present in most patients with cystic fibrosis (CF). Although most pathogens are acquired from the environment, there is great evidence of patient-to-patient transmission. Therefore, evaluating the genetic variation of strains isolated from CF patients is recommended for the purpose of examining hospital infection. AIM: The aim of this study was to determine the antibiotic susceptibility pattern and genotyping of Staphylococcus aureus and Pseudomonas aeruginosa strains isolated from sputum samples of children with CF referred to a single pediatric CF center in Tehran, Iran...

OBJECTIVES: The clinical relevance of fasting and postprandial hypoglycemia in patients with cystic fibrosis (CF) is poorly characterized. Our aim in this study was to characterize the prevalence of hypoglycemia in adult patients during oral glucose tolerance test (OGTT) screening and determine its impact on the risk of developing CF-related diabetes (CFRD). METHODS: We analyzed 2 cohorts of pancreatic insufficient patients with CF exposed to comparable treatment recommendations in France (Lyon CF cohort [DIAMUCO]) and Canada (Montréal CF cohort [MCFC])...

OBJECTIVE: To develop a scientific consensus on nutrition in cystic fibrosis. METHODS: Sixteen coordinators elaborated relevant questions on nutritional therapy in cystic fibrosis, which were divided into six sections: nutritional assessment, nutritional recommendations, nutritional intervention, dietary counseling, special situations and enzyme replacement, and gastrointestinal manifestations. Two to three specialists in the field were responsible for each section and obtaining answers formulated based on standardized bibliographic searches...

Background: Trabeculectomy is associated with several complications. One of the common complications with mitomycin assisted trabeculectomy is thin cystic bleb leading to bleb leak, hypotony and infections. Various technique of bleb repair and reconstruction have been described, such as conjunctival advancement, or scleral, pericardial or corneal patch graft. Purpose: To demonstrate bleb revision by bleborhexis and clear corneal lamellar patch graft for a patient with thin cystic leaking bleb leading to hypotony and decreased vision...

OBJECTIVE: To determine high resolution CT (HRCT) patterns of pulmonary fibrosis (PF) in children; and their etiological correlates. METHODS: This was a retrospective study involving 149 children with diffuse lung disease (DLD). Patterns of involvement were classified based on dominant lung finding as ground glass opacity (GGO) dominant, nodule dominant, cystic lung disease, or PF. Patterns of PF were classified based on distribution and morphology into airway centric fibrosis (ACF), subpleural fibrosis (SPF), progressive massive fibrosis (PMF) and fibrocavitary...