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The risk of vitamin E deficiency is of primary concern in cystic fibrosis patients. However, early diagnosis and routine vitamin E supplementation can lead to its normal or even high levels. In the present study, we assessed vitamin E status in a large group of cystic fibrosis patients. Moreover, we also aimed to establish determinants of its body resources in cystic fibrosis patients.
In healthy lungs, epithelial sodium channel (ENaC) is regulated by short, palate, lung, and nasal clone 1 (SPLUNC1). In cystic fibrosis (CF), ENaC is hyperactivated in part due to a loss of SPLUNC1 function. We have developed SPX-101 to replace the lost function of SPLUNC1 in the CF lung.
Cystic fibrosis diagnosis is dependent on the chloride ion concentration in the sweat test (≥60mEq/mL - recognized as the gold standard indicator for cystic fibrosis diagnosis). Moreover, the salivary glands express the CFTR protein in the same manner as sweat glands. Given this context, the objective was to verify the correlation of saliva chloride concentration (SaCl) and sweat chloride concentration (SwCl), and between saliva sodium concentration (SaNa) and sweat sodium concentration (SwNa), in patient...
Individuals diagnosed with cystic fibrosis (CF) as adults represent a growing sub-population of CF cases but there are limited studies describing their characteristics and prognosis.
Cystic fibrosis (CF) is an inherited, chronic, progressive condition affecting around 10,000 individuals in the UK and over 70,000 worldwide. Survival in CF has improved considerably over recent decades and it is important to provide up-to-date information on patient prognosis.
CA 19-9 (carbohydrate antigen 19-9) is a tumor marker widely used for surveillance of patients with pancreatic cancer. However, even high levels of CA 19-9 may not necessarily be cancer-associated thereby complicating the diagnosis. This case report highlights a transient increase of CA 19-9 in a triple transplanted patient with cystic fibrosis and continuous immunosuppression for 20 years who was under antibiotics. This case emphasizes the need for a balanced interpretation of biological results, especia...
The Australian Cystic Fibrosis Data Registry is positioning itself as an exemplar of a rare disease registry for the future. While it continues to inform cystic fibrosis (CF) clinicians of patterns of CF disease and quality of care, its capability is increasing as a resource for further research into CF subpopulations, as a platform for clinical trials, and as an interface for patient experiences.
Cystic fibrosis (CF) is an autosomal recessive disease caused by mutations in the cystic fibrosis transmembrane conductance regulator gene. Many CF patients have asthma-like symptoms and airway hyperresponsiveness (AHR) which are potentially associated with altered airway smooth muscle (ASM) contractility. The goal of this study was to assess the contractility of the CF intrapulmonary ASM.
Ivacaftor is a cystic fibrosis transmembrane conductance regulator (CFTR) potentiator that improves pulmonary function in cystic fibrosis (CF) patients with at least 1 copy of the G551D CFTR mutation. The purpose of this study is to evaluate the impact of ivacaftor on chronic rhinosinusitis (CRS) symptoms in this population.
Cystic fibrosis is an inherited recessive disorder of chloride transport that is characterised by recurrent and persistent pulmonary infections from resistant organisms that result in lung function deterioration and early mortality in sufferers.Meticillin-resistant Staphylococcus aureus (MRSA) has emerged as, not only an important infection in people who are hospitalised, but also as a potentially harmful pathogen in cystic fibrosis. Chronic pulmonary infection with MRSA is thought to confer people with cys...
Cough is a key symptom in patients with cystic fibrosis (CF) and primary ciliary dyskinesia (PCD).
Analysis of cell-free fetal DNA in maternal plasma is very promising for early diagnosis of monogenic diseases. However, it has been limited by the need to set up patient- or disease-specific custom-made approaches. Here we propose a universal test based on fluorescent multiplex PCR and size fragment analysis for an indirect diagnosis of cystic fibrosis (CF).
To describe the drug utilization profile used by pediatric cystic fibrosis patients.
Patients with cystic fibrosis are characterized by an increased risk of nutrient malabsorption and inflammation, which may influence body composition. We examined the differences in body composition between patients with cystic fibrosis and healthy controls and how body composition differences may impact disease risk and mortality.
Cystic fibrosis is the most common life-limiting autosomal recessive genetic disorder in white populations. Distal intestinal obstruction syndrome (DIOS) is an important morbidity in cystic fibrosis. It is the result of the accumulation of viscid faecal material within the bowel which combines with thick, sticky mucus produced in the intestines of people with cystic fibrosis. The intestine may be completely blocked (complete DIOS) or only partially blocked (incomplete DIOS). Once a diagnosis of DIOS has bee...
Cystic fibrosis is the most common lethal genetic disease in the Caucasian population, characterized by CFTR gene mutations, which is a chloride channel. Whereas this gene has been known since 1989, the curative therapeutic solutions proposed to patients remain limited. New therapeutic strategies are therefore being explored, such as those targeting miRNA participating in the regulation of target mRNA expression. This review focuses on the involvement of miRNA in cystic fibrosis including ion channel contro...
Cystic Fibrosis (CF) patients of Hispanic origin are the largest growing minority, representing 8.5% of CF patients in the United States. No national survival analysis of this group has ever been undertaken.
We describe the use of a decontamination protocol that allowed for successful lung transplantation in a cystic fibrosis patient with necrotizing pneumonia from highly antibiotic-resistant pathogens (Burkholderia and psuedomonas species). This strategy may allow for successful lung transplantation in cystic fibrosis patients with multi-drug resistant infections previously considered non-transplantable.
Diabetes is associated with worse cystic fibrosis (CF) outcomes. The CFTR potentiator ivacaftor is suggested to improve glucose homeostasis in individuals with CF.
To understand the experience of adults living with cystic fibrosis.
Patients with Cystic Fibrosis (CF) have increasing rates of hospitalization. We analyzed the burden and predictors of thirty-day readmission among patients with CF in the U.S.
To evaluate the nutritional profile of the population assisted at a reference center for cystic fibrosis treatment.
Continuous glucose monitoring (CGM) allows assessment of day to day glycaemic excursions and detects early glucose handling abnormalities that may not be apparent on oral glucose tolerance testing (OGTT). However, there is little published evidence as to whether these early dysglycaemic changes are amenable to treatment. We present outcomes following CGM guided insulin initiation at our centre.