Rare cystic fibrosis mutations limit the benefits of targeted drugs

Mutations leading to cystic fibrosis in Latino patients may create treatment disparities, say School scientists
Source: UCSF School of Pharmacy News - Category: Universities & Medical Training Source Type: news

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Authors: Kerem E Abstract INTRODUCTION: ELX-02, an investigational compound that is structurally an aminoglycoside analogue, induces read-through of nonsense mutations through interaction with the ribosome, through which full-length functional proteins can be produced. It is being developed as a therapy for genetic diseases caused by nonsense mutations such as cystic fibrosis (CF) and nephropathic cystinosis. In Phase 1 clinical trials, 105 volunteers were exposed to ELX-02. To date, ELX-02 is well tolerated and there has been no reported treatment-related serious adverse events or deaths. Areas Covered: The develo...
Source: Expert Opinion on Investigational Drugs - Category: Drugs & Pharmacology Tags: Expert Opin Investig Drugs Source Type: research
This article is a consensus of patient representatives and clinicians, which are highly experienced in care of PCD-patients and provides an overview of the management of PCD. Treatments are mainly based on expert opinions, personal experiences, or are deduced from other lung diseases, notably cystic fibrosis (CF), COPD or bronchiectasis. Most strategies focus on routine airway clearance and treatment of recurrent respiratory tract infections. Non-respiratory symptoms are treated organ specific. To generate further evidence-based knowledge, other projects are under way, e. g. the International PCD-Registry. Participating ...
Source: Pneumologie - Category: Respiratory Medicine Tags: Pneumologie Source Type: research
Ye Chronic obstructive pulmonary disease (COPD) is associated with high morbidity and mortality globally. Studies show that airway mucus hypersecretion strongly compromises lung function, leading to frequent hospitalization and mortality, highlighting an urgent need for effective COPD treatments. MUC5AC is known to contribute to severe muco-obstructive lung diseases, worsening COPD pathogenesis. Various pathways are implicated in the aberrant MUC5AC production and secretion MUC5AC. These include signaling pathways associated with mucus-secreting cell differentiation [nuclear factor-κB (NF-κB)and IL...
Source: Molecules - Category: Chemistry Authors: Tags: Review Source Type: research
Genes, Vol. 11, Pages 1137: Clinical Presentation of the c.3844T>C (p.Trp1282Arg, W1282R) Variant in Russian Cystic Fibrosis Patients Genes doi: 10.3390/genes11101137 Authors: Nika V. Petrova Nataliya Y. Kashirskaya Stanislav A. Krasovskiy Elena L. Amelina Elena I. Kondratyeva Andrey V. Marakhonov Tatyana A. Vasilyeva Anna Y. Voronkova Victoria D. Sherman Evgeny K. Ginter Sergey I. Kutsev Rena A. Zinchenko The goal was to study the phenotypic manifestations of c.3844T>C (p.Trp1282Arg, W1282R) variant, a CF-causing mutation, in patients from the Russian Federation. Clinical manifestat...
Source: Genes - Category: Genetics & Stem Cells Authors: Tags: Article Source Type: research
Source: Chemical and Engineering News - Category: Chemistry Authors: Source Type: research
ho JN Abstract OBJECTIVE: To know the experiences of family members of children with cystic fibrosis under the light of the theory of Callista Roy. METHOD: Qualitative research that used the adaptation theoretical framework of Callista Roy for inductive content analysis. Fifteen family members, in a university hospital, between 23 and 63 years old, participated in the study, from September to October 2018. RESULTS: Two categories were elaborated: "Evaluation of stimuli" and "Evaluation of behaviors". The first has three subcategories: "focal", "contextual" and &quo...
Source: Revista Brasileira de Enfermagem - Category: Nursing Authors: Tags: Rev Bras Enferm Source Type: research
Authors: Martín Carmona J, Gómez Moyano E, Gómez Huelgas R, Martínez Pilar L PMID: 32962850 [PubMed - as supplied by publisher]
Source: Medicina Clinica - Category: General Medicine Tags: Med Clin (Barc) Source Type: research
Rationale: Although bronchiectasis is conventionally considered a chronic pulmonary disease of adulthood, knowledge of pediatric bronchiectasis not related to cystic fibrosis started to emerge. Limited information in this field is available and the management is based on expert opinion. Patient concerns: An 8-year-old girl admitted for 7 days history of wet cough, purulent fetid sputum, shortness of breath and low-grade fever. The wet cough has presented for the past 4 years, during which she had frequent hospitalization for recurrent lower respiratory tract infections. Diagnosis: Chest high-resolution computerized...
Source: Medicine - Category: Internal Medicine Tags: Research Article: Clinical Case Report Source Type: research
In this study, we used bioinformatics, microbiological and microscopy techniques to analyze the bacteriophages present in 24 P. aeruginosa isolates belonging to the international CF clone (ST274-CC274). Interestingly, we detected the presence of five members of the Inoviridae family of prophages (Pf1, Pf4, Pf5, Pf6, Pf7), which have previously been observed in P. aeruginosa. In addition, we identified a new filamentous prophage, designated Pf8, in the P. aeruginosa AUS411.500 isolate belonging to the international CF clone. We detected only one prophage, never previously described, from the family Siphoviridiae (with 66 pr...
Source: Frontiers in Microbiology - Category: Microbiology Source Type: research
This study contributes to understanding of shared and species-specific evolutionary patterns of B. cenocepacia and B. multivorans evolving in the same CF lung environment.
Source: Frontiers in Microbiology - Category: Microbiology Source Type: research
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