Soft, skin-interfaced sweat stickers for cystic fibrosis diagnosis and management

2021 ◽  
Vol 13 (587) ◽  
pp. eabd8109
Author(s):  
Tyler R. Ray ◽  
Maja Ivanovic ◽  
Paul M. Curtis ◽  
Daniel Franklin ◽  
Kerem Guventurk ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Quantitative Assessment ◽  
Genetic Disorder ◽  
Age Groups ◽  
Clinical Settings ◽  
Common Life ◽  
Sweat Chloride ◽  
Sweat Production ◽  
Time Image

The concentration of chloride in sweat remains the most robust biomarker for confirmatory diagnosis of cystic fibrosis (CF), a common life-shortening genetic disorder. Early diagnosis via quantitative assessment of sweat chloride allows prompt initiation of care and is critically important to extend life expectancy and improve quality of life. The collection and analysis of sweat using conventional wrist-strapped devices and iontophoresis can be cumbersome, particularly for infants with fragile skin, who often have insufficient sweat production. Here, we introduce a soft, epidermal microfluidic device (“sweat sticker”) designed for the simple and rapid collection and analysis of sweat. Intimate, conformal coupling with the skin supports nearly perfect efficiency in sweat collection without leakage. Real-time image analysis of chloride reagents allows for quantitative assessment of chloride concentrations using a smartphone camera, without requiring extraction of sweat or external analysis. Clinical validation studies involving patients with CF and healthy subjects, across a spectrum of age groups, support clinical equivalence compared to existing device platforms in terms of accuracy and demonstrate meaningful reductions in rates of leakage. The wearable microfluidic technologies and smartphone-based analytics reported here establish the foundation for diagnosis of CF outside of clinical settings.

scholarly journals Elexacaftor-Tezacaftor-Ivacaftor: The First Triple-Combination Cystic Fibrosis Transmembrane Conductance Regulator Modulating Therapy

2020 ◽  
Vol 25 (3) ◽  
pp. 192-197 ◽  
Author(s):  
Kaden Ridley ◽  
Michelle Condren
Keyword(s):  
Cystic Fibrosis ◽  
Clinical Trials ◽  
Genetic Mutations ◽  
Transmembrane Conductance Regulator ◽  
Triple Combination ◽  
Transmembrane Conductance ◽  
Sweat Chloride ◽  
Cystic Fibrosis Transmembrane

Elexacaftor-tezacaftor-ivacaftor is a newly approved triple-combination cystic fibrosis transmembrane conductance regulator (CFTR) modulating therapy that contains 2 correctors and a potentiator of the CFTR channel. Its labeled indication for use is for persons 12 years of age and older with at least 1 F508del mutation for the CFTR gene. This drug combination provides potential therapy to many patients who had previously been excluded from CFTR modulation therapy due to the nature of their genetic mutations. The efficacy demonstrated in clinical trials surpasses the currently available therapies related to lung function, quality of life, sweat chloride reduction, and reducing exacerbations. The most common adverse events seen in clinical trials included rash and headache, and laboratory monitoring is recommended to evaluate liver function. Continued evaluation of patient data is needed to confirm its long-term safety and efficacy. Elexacaftor-tezacaftor-ivacaftor is a monumental and encouraging therapy for cystic fibrosis; however, approximately 10% of the CF population are not candidates for this or any other CFTR modulation therapy.

scholarly journals Human Genetics Society of Australasia Position Statement: Population-Based Carrier Screening for Cystic Fibrosis

2014 ◽  
Vol 17 (6) ◽  
pp. 578-583 ◽  
Author(s):  
Martin B. Delatycki ◽  
Jo Burke ◽  
Louise Christie ◽  
Felicity Collins ◽  
Michael Gabbett ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Human Genetics ◽  
Genetic Disorder ◽  
Position Statement ◽  
Population Based ◽  
Heterozygous Mutation ◽  
Transmembrane Conductance Regulator ◽  
Transmembrane Conductance ◽  
Common Life ◽  
Cystic Fibrosis Transmembrane

Since the discovery in 1989 that mutations in cystic fibrosis transmembrane conductance regulator (CFTR) underlie cystic fibrosis (CF), the most common life shortening genetic disorder in Caucasians, it has been possible to identify heterozygous mutation carriers at risk of having affected children. The Human Genetics Society of Australasia has produced a position statement with recommendations in relation to population-based screening for CF. These include: (1) that screening should be offered to all relatives of people with or carriers of CF (cascade testing) as well as to all couples planning to have children or who are pregnant; (2) the minimum CFTR mutation panel to be tested consists of 17 mutations which are those mutations that are associated with typical CF and occur with a frequency of 0.1% or higher among individuals diagnosed with CF in Australasia; (3) that genetic counselling is offered to all couples where both members are known to have one or two CFTR mutations and that such couples are given the opportunity to meet with a physician with expertise in the management of CF as well as a family/individual affected by the condition.

Microbial clues lead to a diagnosis of cystic fibrosis in late adulthood

2020 ◽  
Vol 13 (4) ◽  
pp. e233470
Author(s):  
Colm Kerr ◽  
David Morrissy ◽  
Mary Horgan ◽  
Barry J Plant
Keyword(s):  
Cystic Fibrosis ◽  
Genetic Testing ◽  
Genetic Disorder ◽  
Good Effect ◽  
Transmembrane Conductance Regulator ◽  
Old Irish ◽  
Common Life ◽  
Sweat Testing ◽  
History Of ◽  
Tract Infections

Cystic fibrosis (CF) is the most common life-limiting autosomal recessive genetic disorder among Caucasian populations. The majority of CF cases are diagnosed in childhood; however, increasing numbers of adults are being diagnosed with the condition. We present the case of a 65-year-old Irish woman presenting with a chronic cough and a history of recurrent respiratory tract infections. Staphylococcus aureus, Scedosporium apiospermum and Stenotrophomonas maltophilia were grown from bronchoalveolar lavage raising suspicion for CF. Sweat testing was negative; however, genetic testing revealed the presence of ∆F508 and R117H CF mutations, the latter mutation conferring a milder form of CF. The patient commenced treatment with the cystic fibrosis transmembrane conductance regulator (CFTR) potentiator medication ivacaftor to good effect. Novel CFTR potentiators and modulators have significant potential to benefit morbidity and mortality in this group. In this case, the microbiological results were key in pursuing genetic testing and diagnosing CF.

Implementation of a Quality Improvement Program to Improve Sweat Test Performance in a Pediatric Hospital

2014 ◽  
Vol 138 (7) ◽  
pp. 920-922 ◽  
Author(s):  
Barina Aqil ◽  
Aaron West ◽  
Michael Dowlin ◽  
Estella Tam ◽  
Cristy Nordstrom ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Quality Improvement ◽  
Test Performance ◽  
Sweat Test ◽  
Pediatric Hospital ◽  
Improvement Program ◽  
Sweat Chloride ◽  
Sweat Production ◽  
Sweat Testing ◽  
Set Up

Context.—All positive screening of newborns for cystic fibrosis using the dried blood spot 2-tiered immunoreactive trypsinogen/DNA method requires subsequent sweat chloride testing for confirmation. Obtaining an adequate volume of sweat to measure chloride is a challenge for many cystic fibrosis centers across the nation. The standard for patients older than 3 months is less than 5% quantity not sufficient (QNS) and for patients 3 months or younger is less than 10% QNS. Objective.—To set up a quality improvement (QI) program for sweat testing to improve QNS rates using the Wescor Macroduct (Wescor, Inc, Logan, Utah) method at Texas Children's Hospital's laboratory, Houston, Texas. Design.—Single-center study. Results.—Quantity not sufficient rates were evaluated for 4 months before and 8 months after implementation of the QI program for patients aged 3 months or younger and those older than 3 months. The QI program included changes in technician training, service, site of collection, mode of collection, weekly review, and forms to screen patients for medications that may alter sweat production. A marked improvement was observed in the rates of QNS, which declined considerably from 16.7% to 8.5% (≤3 months old) and from 9.3% to 2.2% (>3 months old) after implementation of the QI initiative in both age categories. Conclusion.—This report demonstrates the effectiveness of the QI program in significantly improving QNS rates in sweat chloride testing in a pediatric hospital.

Acupuncture Pain Management for Patients with Cystic Fibrosis: A Pilot Study

2005 ◽  
Vol 33 (01) ◽  
pp. 151-156 ◽  
Author(s):  
Yuan-Chi Lin ◽  
Helen Ly ◽  
Brenda Golianu
Keyword(s):  
Quality Of Life ◽  
Cystic Fibrosis ◽  
Pain Management ◽  
Pilot Study ◽  
Acupuncture Treatment ◽  
Genetic Disorder ◽  
Controlled Trials ◽  
Randomized Controlled ◽  
Visual Analog Scales

Cystic fibrosis is the most commonly occurring genetic disorder among Caucasians. The purpose of this study was to evaluate the effects of acupuncture for pain management in patients with cystic fibrosis; clinical data was obtained regarding the integration of acupuncture into the management of pain in patients with cystic fibrosis. Visual analog scales were used for pain measurement. Acupuncture was found to be effective in decreasing pain complaints in patients with cystic fibrosis. No side effects or complications were reported in relation to the acupuncture treatment. Acupuncture is effective for managing symptoms and illnesses associated with cystic fibrosis. Further randomized controlled trials will be necessary to evaluate additional efficacy in pain management and the improvement of the quality of life of patients with cystic fibrosis.

scholarly journals Erratum to: Quality of sweat test (ST) based on the proportion of sweat sodium (Na) and sweat chloride (Cl) as diagnostic parameter of cystic fibrosis: are we on the right way?

2017 ◽  
Vol 12 (1) ◽  
Author(s):  
Alethéa Guimarães Faria ◽  
Fernando Augusto Lima Marson ◽  
Carla Cristina de Souza Gomez ◽  
Maria Ângela Gonçalves de Oliveira Ribeiro ◽  
Lucas Brioschi Morais ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Sweat Test ◽  
Diagnostic Parameter ◽  
Sweat Chloride ◽  
The Right ◽  
Sweat Sodium

scholarly journals Quality of sweat test (ST) based on the proportion of sweat sodium (Na) and sweat chloride (Cl) as diagnostic parameter of cystic fibrosis: are we on the right way?

2016 ◽  
Vol 11 (1) ◽  
Author(s):  
Alethéa Guimarães Faria ◽  
Fernando Augusto Lima Marson ◽  
Carla Cristina de Souza Gomez ◽  
Maria Ângela Gonçalves de Oliveira Ribeiro ◽  
Lucas Brioschi Morais ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Sweat Test ◽  
Diagnostic Parameter ◽  
Sweat Chloride ◽  
The Right ◽  
Sweat Sodium

scholarly journals CFTR Modulators: Impact on Fertility, Pregnancy, and Lactation in Women with Cystic Fibrosis

2020 ◽  
Vol 9 (9) ◽  
pp. 2706 ◽  
Author(s):  
Jennifer L. Taylor-Cousar
Keyword(s):  
Quality Of Life ◽  
Cystic Fibrosis ◽  
Genetic Disorder ◽  
Safety Data ◽  
Single Copy ◽  
The Body ◽  
Pregnancy And Lactation ◽  
The Impact ◽  
Cftr Modulators

Cystic fibrosis (CF) is a life-shortening genetic disorder caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. These mutations lead to abnormal ion transport in mucous membranes throughout the body, including in the respiratory and gastrointestinal and reproductive tracts. Improvements in care and therapy have led to substantial increases in the quantity and quality of life for those with CF. Consequently, women with CF are increasingly interested in having families. Although pregnancy was once discouraged for women with CF, at this point, even women with moderately severe lung disease can successfully navigate pregnancy. With the recent approval of a triple combination CFTR modulator therapy that improves lung function, nutritional status, and quality of life for people with a single copy of the most common CFTR mutation, it is expected that the number of women with CF who choose to become pregnant will continue to increase. Although animal reproduction models show no alarming signals for use during pregnancy at normal human doses, there is a paucity of human safety data in pregnancy and lactation. This review summarizes what is currently known about the impact of use of CFTR modulators on fertility, pregnancy, and lactation in women with CF.

Adults with cystic fibrosis – medical challenges and a psychosocial adaptation in the context of risk of a premature death

2020 ◽  
Vol 48 (2) ◽  
pp. 83-96
Author(s):  
Renata Zubrzycka
Keyword(s):  
Cystic Fibrosis ◽  
Genetic Disorder ◽  
Caloric Intake ◽  
Premature Death ◽  
Psychosocial Problems ◽  
Psychosocial Adaptation ◽  
Common Life ◽  
Organizational Conditions ◽  
Airway Clearance ◽  
Life Tasks

Cystic Fibrosis (CF) is the most common life-limiting genetic disorder of Caucasians. It impairs the functions of many organs with its greatest effects on the lungs and digestion. Treatment of the disease involves a multi- component regimen, including airway clearance techniques, nebulized medications, antibiotics, pancreatic enzymes and increased caloric intake. Cystic fibrosis is a burden for patients and their families in the context of their daily life tasks. The article presents generic medical, psychosocial problems of adult patients with CF, which are still little known in Poland. The detailed issues are: medical characteristics of cystic fibrosis as a rare disease, organizational conditions of rehabilitation, specific psychosocial problems including: a depression, an anxiety and a reproductive health in cystic fibrosis in the context of a premature death.

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