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Cystic Fibrosis - DOAJ

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Last Updated: 23 June 2022

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A Public Dialogue to Inform the Use of Wider Genomic Testing When Used as Part of Newborn Screening to Identify Cystic Fibrosis

Since 2007, cystic fibrosis has been included in the UK national newborn screening program. The procedure employs immunoreactive trypsin in dried blood spot samples obtained at day 5 of life and uses immunoreactive trypsin. In addition, the limited CF mutation panel may not adequately reflect the ethnic diversity within the UK population. Parents' confusion has also increased the number of Cystic Fibrosis Screen-Positive Inconclusive Diagnosis designations reported, leading to confusion for parents. To determine if there was a preference for increasing the sensitivity or specificity of CF screening, the UK National Screening Committee commissioned a survey to elicit the opinions of members of the public without direct experience of the program to determine if there was a trend for maximizing the sensitivity or specificity of CF screening.

Source link: https://doi.org/10.3390/ijns8020032


Sleep, Sedentary Time and Physical Activity Levels in Children with Cystic Fibrosis

The aim of this study was to compare the use of generic and cystic fibrosis -specific cut-points to measure movement habits in children and adolescents with CF. In 71 children and adolescents with mild CF, physical fitness was assessed for seven days in a non-dominant wrist-worn ActiGraph GT9X for seven days in a row. The effect of using a CF-specific or generic cut-point on the relationship between PA intensities and lung function was determined. Promoting LPA appears to be a promising way to improve lung function in children and teens with CF.

Source link: https://doi.org/10.3390/ijerph19127133


Eating Disorders and Disordered Eating Behaviors in Cystic Fibrosis: A Neglected Issue

Patients with chronic illnesses that have specific nutritional needs, in cystic fibrosis, the emphasis placed on patients regarding their diet and optimal body weight often raises the risk of experiencing disordered eating habits and, in effect, eating disorders. With so many patients struggling to lose weight, body weight seems to be a significant issue for patients with CF. Many comorbidities seem to have changed these dynamics, and visually recognizable reasons, including scars, ports, and tubes, as well as the need for additional oxygen supply may also influence body image perception. During a bout of pulmonary disease, disordered eating is usually initiated, with the patient being sick to eat. According to studies, the prevalence of EDs in EDs is uncertain whether it is greater among people with a CF diagnosis or not. The most common psychiatric disorders in CF, as for comorbidities, anxiety, and depression, are also present in EDs.

Source link: https://doi.org/10.3390/children9060915


CFTR Rescue by Lumacaftor (VX-809) Induces an Extensive Reorganization of Mitochondria in the Cystic Fibrosis Bronchial Epithelium

Little is known about how CFTR's pharmacological rescue affects the cell proteome. Methods: To investigate both changes in the expression and localization of the human bronchial epithelium CF model proteome's expression and localization after treatment with VX-809, a drug that has been used to raise the trafficking of CFTR. The results: No major changes in protein expression were found, but subtle localization changes of mitochondrial and peroxisome proteins were found. Using the LOPIT-DC spatial proteomics technique, we profiled several thousand proteins and determined the subcellular localization information for around 5000 of them. Conclusions: We discovered that VX-809 treatment results in extensive structural and functional remodelling of mitochondria and peroxisomes that mimic healthy cells' phenotype.

Source link: https://doi.org/10.3390/cells11121938


One Size Does Not Fit All: The Past, Present and Future of Cystic Fibrosis Causal Therapies

Cystic fibrosis is the most common monogenic disorder caused by mutations in the CF transmembrane conductance regulator gene. For 90% of people with CF, a highly effective CFTR modulator therapy is currently available. We'll discuss how to combat the CFTR protein, its cellular environment, the CFTR mRNA, or the CFTR gene. We will eventually concentrate on how these efforts could be applied to the 15% of people with CF for whom no causal therapy is available.

Source link: https://doi.org/10.3390/cells11121868


Hearing the Voice of a Shadow Child: Healthy Siblings Experience of Cystic Fibrosis and Other Life-Threatening Conditions

Cystic fibrosis is a chronic, life-threatening disease that has impacted pediatric medicine, and it causes physical and mental difficulties for parents and the sick child's healthy sibling/s, who often become sibling carers. It is an attempt to hear shadow children's voices as families and professionals rehearse about their ill sibling's illness.

Source link: https://doi.org/10.1177/2374373520948652


Virtual Peer Support for People With Cystic Fibrosis and Their Family Members: A Program Evaluation

Through a retrospective program analysis, we wanted to determine the suitability, acceptability, and benefits of a virtual one-to-one peer support service for people with cystic fibrosis and their family members. This peer support service was created in partnership with patients, health care professionals, and CF Foundation program workers. According to our program evaluation, virtual peer support based on informal sharing of life experiences is a viable way to provide social assistance and enhance health and well-being in chronic disease management.

Source link: https://doi.org/10.1177/2374373520974322


Applying Petitmengin’s Explicitation Interview Method to Elicit the Lived Experience of Breathing Upon Waking by an Individual With Cystic Fibrosis

Breathing is an action that most people do not actively consent to unless there is a symptom of respiratory disease that affects the respiratory system. The aim of this paper is to demonstrate the use of the explicitation technique used by Petitmengin by interviewing a subject with the intention of eliciting the lived experience of breathing by an individual with end-stage cystic fibrosis. What is the lived experience of breathing after awakening for an individual with CF? To employ the interview technique, the following phenomenological question guided the interviewer's decision: What is the lived experience of breathing on awakening: What is the physiological explanation of breathing on awakening for an individual with CF?

Source link: https://doi.org/10.1177/2374373520956740


Time Free From Hospitalization in Children and Adolescents With Cystic Fibrosis: Findings From FEV1, Lung Clearance Index and Peak Work Rate

BackgroundAn exercise test along with a multiple breath washout nitrogen test can provide a comprehensive medical evaluation of cystic fibrosis disease in children with normal spirometry. Methods This prospective observational study was conducted at the Lombardia Region Reference Center for Pediatric Exacerbation in Milano, Italy, to determine time free from hospitalization due to pulmonary exacerbation. When lung function tests were outside the normal range, 50% of patients were hospitalized four months after the outpatient visit and their reaction to exercise was unusual. The first hospital admission, as a result of the clinic visit, was delayed by 82%, with atypical response to exercise in the first second and abnormal lung clearance index.

Source link: https://doi.org/10.3389/fped.2022.926248


Heart rate variability, exercise capacity and levels of daily physical activity in children and adolescents with mild-to-moderate cystic fibrosis

Background: In cystic fibrosis, the autonomic nervous system balance has been changed, but its effect on physical fitness has yet to be investigated. Objective: This study was conducted to determine the correlation of heart rate variability with exercise capacity and daily physical fitness in children and teens with moderate to moderate CF. Methods: A cross-sectional survey was conducted on people with CF aged 6201318 years, not under CFTR modulator therapy. SDNN at rest and exercise showed positive correlations with time in moderate-to-vigorous activities, despite daily physical fitness. Conclusion: HRV correlates with lung function, exercise capacity, and levels of daily physical fitness in children and teens with CF. The analysis finds that CF has an effect on autonomic function, and that HRV testing may be a quick way to track CF patients in clinical settings.

Source link: https://doi.org/10.1142/S1013702522500019

* Please keep in mind that all text is summarized by machine, we do not bear any responsibility, and you should always check original source before taking any actions

* Please keep in mind that all text is summarized by machine, we do not bear any responsibility, and you should always check original source before taking any actions