Family of cystic fibrosis sufferer, 28, issue a desperate plea to the NHS and drug firms

The only real hope of Nicole Adams, 28, from Belfast, lies in a new medicine that can dramatically improve lung function - but the pill is not yet approved for NHS patients.
Source: the Mail online | Health - Category: Consumer Health News Source Type: news

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Authors: Kaur P, Kumar P, Randev S, Guglani V Abstract Allergic bronchopulmonary aspergillosis (ABPA) is an immunological disease complicating asthma or cystic fibrosis. An 8-year-old girl with no previous respiratory morbidity was diagnosed with ABPA on the basis of a raised eosinophil count and total and specific serum IgE levels combined with a positive skin-prick test for aspergillus and typical CT images of finger-in-glove hilar opacities and hyperattenuating mucous. She responded to treatment with itraconazole and corticosteroids and remains well. As far as we are aware, she is only the second child to be dia...
Source: Paediatrics and international child health - Category: Pediatrics Tags: Paediatr Int Child Health Source Type: research
Publication date: Available online 2 April 2020Source: Journal of the Academy of Nutrition and DieteticsAuthor(s): Miriam Isabel Souza dos Santos Simon, Roberta Dalle Molle, Flávia Moraes Silva, Thais Wabner Rodrigues, Marceli Feldmann, Gabriele Carra Forte, Paulo José Cauduro Marostica
Source: Journal of the Academy of Nutrition and Dietetics - Category: Nutrition Source Type: research
Learn more about the available diagnostic modalities for the identification of cystic fibrosis across all age groups.Seminars in Respiratory and Critical Care Medicine
Source: Medscape Today Headlines - Category: Consumer Health News Tags: Pulmonary Medicine Journal Article Source Type: news
This study examined early predictors of progressive structural lung abnormalities in children who completed the Australasian CF Bronchoalveolar Lavage (ACFBAL) clinical trial at age 5-years and participated in an observational follow-up study (CF-FAB). Eight Australian and New Zealand CF centres participated in CF-FAB and provided follow-up chest computed-tomography (CT) scans for children who had completed the ACFBAL study with baseline scans at age 5-years. CT scans were annotated using PRAGMA-CF scoring. Ordinal regression analysis and linear regression were used to investigate associations between PRAGMA-CF (Perth&ndas...
Source: European Respiratory Journal - Category: Respiratory Medicine Authors: Tags: CF and non-CF bronchiectasis Original Articles: Cystic fibrosis Source Type: research
The natural history of cystic fibrosis (CF) lung disease has been described as a complex process of obstruction, infection, and inflammation, all contributing to airways injury and eventual structural disease (i.e. bronchiectasis). Consequences of the CF genetic abnormality begin in utero and are the basis for newborn screening for elevated levels of circulating immunoreactive trypsinogen (IRT) [1]. Thus, it should be no surprise that the process of airway obstruction begins immediately at birth. Ample cross-sectional evidence has been published of airway obstruction, inflammation, bacterial infection, bronchial wall thick...
Source: European Respiratory Journal - Category: Respiratory Medicine Authors: Tags: Editorials Source Type: research
Crystallization of recombinant proteins has been fundamental to our understanding of protein function, dysfunction, and molecular recognition. However, this information has often been gleaned under extremely nonphysiological protein, salt, and H+ concentrations. Here, we describe the development of a robust Inka1-Box (iBox)–PAK4cat system that spontaneously crystallizes in several mammalian cell types. The semi-quantitative assay described here allows the measurement of in vivo protein-protein interactions using a novel GFP-linked reporter system that produces fluorescent readouts from protein crystals. We combined t...
Source: Journal of Biological Chemistry - Category: Chemistry Authors: Tags: Protein Structure and Folding Source Type: research
Cystic fibrosis transmembrane conductance regulator (CFTR) is a chloride channel activated by protein kinase A (PKA) phosphorylation on the regulatory (R) domain. Phosphorylation at several R domain residues stimulates ATP-dependent channel openings and closings, termed channel gating. To explore the protein segment responsible for channel potentiation and PKA-dependent activation, deletion mutations were constructed by removing one to three protein segments of the R domain including residues 708–759 (ΔR708–759), R760–783, and R784–835, each of which contains one or two PKA phosphorylation sit...
Source: Journal of Biological Chemistry - Category: Chemistry Authors: Tags: Membrane Biology Source Type: research
Publication date: April 2020Source: The Lancet Respiratory Medicine, Volume 8, Issue 4Author(s): Deniz Dogru, Erkan Çakır, Tuğba Şişmanlar Eyüboğlu, Sevgi Pekcan, Uğur Özçelik, board members and the working group of the Cystic Fibrosis Registry of Turkey
Source: The Lancet Respiratory Medicine - Category: Respiratory Medicine Source Type: research
We consider disease-causing mutations that are lethal when homozygous. Lethality involves the very strongest form of negative selection, with the selection coefficient against the disease-carrying homozygote having its maximum value of unity. We determine results for the behavior of the frequency of a lethal allele in an effectively infinite population. This includes an estimate of the time it takes to achieve equilibrium, and a description of transient behavior associated with a sudden change in the fitness of the heterozygote. We determine analogous results for a finite population, showing that a lethal disease-causing a...
Source: Frontiers in Genetics - Category: Genetics & Stem Cells Source Type: research
Antioxidant micronutrients and essential fatty acids supplementation intake appears to have a protective effect in some diseases such as cardiovascular disease, cancer, and asthma. The aim of this study was to perform a systematic review to evaluate the effects of these nutrients on nutritional and clinical outcomes of patients with cystic fibrosis (CF). This is a systematic review of randomized clinical trials (RCTs) in CF. MEDLINE (via PubMed), Embase, and Scopus databases were searched for RCTs published from 1948 through February 2019.
Source: Journal of the American Dietetic Association - Category: Nutrition Authors: Tags: Research Source Type: research
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