Current Challenges in Cystic Fibrosis Screening

2003 ◽  
Vol 127 (9) ◽  
pp. 1133-1139 ◽  
Author(s):  
Elaine Lyon ◽  
Christine Miller
Keyword(s):  
Cystic Fibrosis ◽  
Health Care Providers ◽  
Patient Information ◽  
Phenotypic Expression ◽  
Gene Mutations ◽  
Care Providers ◽  
Idiopathic Pancreatitis ◽  
Advantages And Disadvantages ◽  
Bilateral Absence ◽  
Cf Transmembrane Conductance Regulator

Abstract Content.—This article gives an overview of the symptoms and mutations associated with classic and atypical cystic fibrosis (CF). Current testing methods for mutation detection in CF are discussed. Objectives.—Review testing for CF, including American College of Medical Genetics and American College of Obstetrics and Gynecology guidelines and recommendations regarding population screening for CF. Describe symptomatic and mutational differences between patients with classic CF and atypical CF, including monosymptomatic conditions such as congenital bilateral absence of the vas deferens, idiopathic pancreatitis, and chronic sinusitis. Explain the concern about predicting the phenotypic expression of the condition from the genotype. Discuss the challenges of CF testing, including the preanalytic, analytic, and postanalytic phases. List the current methods for detecting CF transmembrane conductance regulator gene mutations, specifying the advantages and disadvantages of each. Describe the basic patient information necessary for laboratories to provide accurate risk assessments, such as ethnicity and family history, and reasons for the test being conducted (carrier or affected status). Results.—The technical challenges of detecting the 25 recommended mutations are being met by commercially available reagents. Challenges remain for the preanalytic and postanalytic phases. Only with accurate patient information can laboratories provide specific risk reductions on the basis of a negative genetic test result. Conclusion.—As health care providers become better informed about the recommendations for CF testing and laboratories continue to increase the sensitivities of their assays, patients will benefit from increased screening efficiency and accuracy. This will allow affected individuals to receive prompt and effective treatment and carriers to enjoy an expanded number of reproductive options.

scholarly journals Common variable immunodeficiency disorder associated with bronchiectasis: a case report

2021 ◽  
Vol 8 (3) ◽  
pp. 565
Author(s):  
Mohammad Zahirul Islam Khan ◽  
Kamrul Laila ◽  
Mohammed Mahbubul Islam ◽  
Mohammad Imnul Islam ◽  
Shahana Akhter Rahman
Keyword(s):  
Health Care Providers ◽  
Common Variable Immunodeficiency ◽  
Delayed Diagnosis ◽  
Gene Mutations ◽  
Growth Failure ◽  
Recurrent Infections ◽  
Care Providers ◽  
Immunodeficiency Disorder ◽  
Specific Antibody Production ◽  
Common Variable

Common variable immunodeficiency disorder (CVID) is the commonest type of primary immunodeficiency disorders (PIDs) characterized by hypogammaglobulinemia, defective specific antibody production and increased susceptibility of recurrent infections. Autoimmunity, neoplasm and lymphoproliferative disorders are usually associated with CVID. In most cases, the cause is unknown, but multiple gene mutations (10%) may be associated with CVID. Here, we report an eight years old girl with CVID presented with recurrent infections, growth failure, generalized lymphadenopathy and hepatosplenomegaly. Chest examination and radiological findings of this girl were consistent with bronchiectasis. Lack of awareness among health care providers is the reason for delayed diagnosis of several years for this girl. Therefore, it is essential to raise awareness regarding PID patients among the physicians to improve the quality of life.  

scholarly journals Non-invasive prenatal testing: what an obstetrician needs to know

2020 ◽  
Vol 9 (12) ◽  
pp. 5200
Author(s):  
Mishu Mangla
Keyword(s):  
Health Care Providers ◽  
Prenatal Screening ◽  
Prenatal Testing ◽  
High Sensitivity ◽  
Target Population ◽  
Care Providers ◽  
Advantages And Disadvantages ◽  
Non Invasive ◽  
Primary Health Care Providers ◽  
First Choice

No field in obstetrics has seen such fast advancement, as the field of prenatal screening and diagnosis. A wide variety of tests are available today, and this at times becomes confusing both for the patient and the treating doctor that which screening test would be best suited in the given circumstances. Non-invasive prenatal screening, with its numerous advantages is rapidly becoming the test of first choice, especially in the affording set of population.  Although, the test has a very high sensitivity and a very good positive predictive value, this too suffers from some disadvantages which should be clear to the obstetrician ordering the test. A good knowledge about the test, the ideal target population in which this should be offered as the primary screening tool and limitations of the test should be known to all practicing obstetricians and primary health care providers. The current review aims to provide a simplified and updated knowledge regarding non-invasive prenatal testing (NIPT), its major advantages and disadvantages and summarizes the role of ultrasound in patients with negative NIPT.

Health care provider’s experiences, practices, and recommendations for interventions and screening of cystic fibrosis patients with disordered eating: A qualitative analysis

2019 ◽  
pp. 174239531988118
Author(s):  
Virginia Quick ◽  
Grace Chang
Keyword(s):  
Health Care ◽  
Cystic Fibrosis ◽  
Disordered Eating ◽  
Health Care Providers ◽  
Eating Behaviors ◽  
Screening Tool ◽  
Pancreatic Enzyme ◽  
National Standard ◽  
Care Providers ◽  
Disordered Eating Behaviors

Objectives To investigate health care providers’ perspectives on their experiences and practices with cystic fibrosis patients exhibiting disordered eating behaviors and their recommendations for interventions and screening of this population. Methods Experienced health care providers (N = 17) were recruited from the Cystic Fibrosis Foundation listserv to participate in a semi-structured interview via phone. Two trained qualitative researchers independently coded audio-recorded interview scripts. Major themes were generated from questions inquiring health care providers’ perspectives on their experiences and practices with cystic fibrosis patients exhibiting disordered eating behaviors and their recommendations for better interventions and screening of disordered eating. Results The most prominent disordered eating behaviors observed by health care providers in cystic fibrosis patients were misusing pancreatic enzyme medication (53%), food restriction behaviors (47%), binge eating (29%), and skipping meals (29%). Over half (53%) of health care providers reported not having policies or procedures for disordered eating of cystic fibrosis patients. All health care providers thought it would be beneficial to have a cystic fibrosis-specific disordered eating screening tool. Recommendations by health care providers included developing a national standard protocol for cystic fibrosis disordered eating and educational training for health care providers. Discussion Ongoing development of evidence-based guidelines for screening and treating disordered eating among cystic fibrosis patients is warranted including development of a cystic fibrosis-specific disordered eating screening tool.

The use of telehealth (text messaging and video communications) in patients with cystic fibrosis: A pilot study

2016 ◽  
Vol 23 (4) ◽  
pp. 489-493 ◽  
Author(s):  
Michal Gur ◽  
Vered Nir ◽  
Anna Teleshov ◽  
Ronen Bar-Yoseph ◽  
Eynav Manor ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Pilot Study ◽  
Health Care Providers ◽  
Text Messaging ◽  
Descriptive Analysis ◽  
Intervention Group ◽  
Control Group ◽  
Care Providers ◽  
Multi Centre Study ◽  
Before And After

Background Poor communications between cystic fibrosis (CF) patients and health-care providers may result in gaps in knowledge and misconceptions about medication usage, and can lead to poor adherence. We aimed to assess the feasibility of using WhatsApp and Skype to improve communications. Methods This single-centre pilot study included CF patients who were older than eight years of age assigned to two groups: one without intervention (control group), and one with intervention. Each patient from the intervention group received Skype-based online video chats and WhatsApp messages from members of the multidisciplinary CF team. CF questionnaires, revised (CFQ-R) scores, knowledge and adherence based on CF My Way and patients satisfaction were evaluated before and after three months. Feasibility was assessed by session attendance, acceptability and satisfaction survey. Descriptive analysis and paired and non-paired t-tests were used as applicable. Results Eighteen patients were recruited to this feasibility study (nine in each group). Each intervention group participant had between four and six Skype video chats and received 22–45 WhatsApp messages. In this small study, CFQ-R scores, knowledge, adherence and patient satisfaction were similar in both groups before and after the three-month intervention. Conclusions A telehealth-based approach, using Skype video chats and WhatsApp messages, was feasible and acceptable in this pilot study. A larger and longer multi-centre study is warranted to examine the efficacy of these interventions to improve knowledge, adherence and communication.

scholarly journals Perceptions of People Living with HIV and HIV Healthcare Providers on Real-Time Measuring and Monitoring of Antiretroviral Adherence Using Ingestible Sensors: A Qualitative Study

2020 ◽  
Vol 2020 ◽  
pp. 1-10 ◽  
Author(s):  
Susan Kamal ◽  
Marc I. Rosen ◽  
Christina Lazar ◽  
Lisa Siqueiros ◽  
Yan Wang ◽  
...  
Keyword(s):  
Medication Adherence ◽  
Real Time ◽  
Health Care Providers ◽  
Thematic Analysis ◽  
People Living With Hiv ◽  
Care Providers ◽  
Convenience Sample ◽  
Antiretroviral Adherence ◽  
Advantages And Disadvantages ◽  
Living With Hiv

Objective. To describe and analyze the perception and attitudes of people living with HIV (PLWH) and HIV HCPs towards medication adherence with a focus on a digital medicine program (DMP) with ingestible sensors (ISs). Methods. This is a qualitative analysis pilot study of PLWH who were using DMP recruited by purposive sampling. A convenience sample of HCPs was interviewed. Semistructured interviews were conducted, and thematic analysis was performed. Results. Fifteen PLWH were interviewed, and thematic analysis resulted in three main themes: self-identified medication adherence patterns, experiences with the DMP, and recommending the DMP to others. Six health care providers (HCPs) described barriers and facilitators to adherence, as well as advantages and disadvantages of using or recommending the DMP to PLWH. Conclusion. This study evaluated participant and provider responses to DMP, which is a novel technology for real-time measuring and monitoring adherence with the IS. Participant and provider responses were mixed, highlighting both the advantages and limitations of the technology. Practice Implications. Taking PLWH experiences into consideration will enhance the development of this and other useful tools that clinicians and researchers can use for enhanced patient care.

scholarly journals Hand disinfectants and surgical site infections: A narrative review

2020 ◽  
pp. 84-90
Keyword(s):  
Infection Control ◽  
Health Care Providers ◽  
Length Of Hospital Stay ◽  
Surgical Site Infections ◽  
Cost Effective ◽  
Hand Disinfection ◽  
Care Providers ◽  
Team Members ◽  
Advantages And Disadvantages ◽  
Library Resources

Surgical site infection is one of the most common health-related infections, which can cause problems for health care providers by increasing morbidity and mortality, length of hospital stay, and costs. Undoubtedly, one of the most efficient and cost-effective ways to fight infection is to prevent it. An essential measure in infection control is the disinfection of the surgical team members to remove fat and contamination, eliminate transient microorganisms, and prevent the growth and proliferation of resident microorganisms on the skin. This study aimed to introduce different types of soap and alcohol disinfectant solutions for surgical scrub and describe the advantages and disadvantages of each by reviewing several recent research studies. This study is a brief overview of the recently conducted articles as searched in library resources, the Google Scholar Search Engine, Pubmed, UpToDate, Cochran, and Scopus databases using the English keywords of "hand hygiene", "infection control", "hand disinfection/methods", "hand disinfection/standards", and "Surgical Procedures, Operative" as well as the Persian keywords of "surgical scrub", "Povidone-iodine", "alcohol", and "hand disinfection". After reviewing 76 articles and eliminating the duplicate sources, 43 studies published from 2007 to 2019 were fully reviewed. Finally, 26 sources were selected as eligible with substantial relevance to the subject matter and subsequently reviewed. Based on the review of articles, it can be concluded that alcoholic solutions are often effective alternatives to soap scrub solutions due to their high disinfecting properties, safety, rapid effectiveness, and greater compliance with instructions.

scholarly journals A Discussion on Different Approaches for Prescribing Physical Interventions – Four Roads Lead to Rome, but Which One Should We Choose?

2020 ◽  
Vol 10 (3) ◽  
pp. 55 ◽  
Author(s):  
Fabian Herold ◽  
Alexander Törpel ◽  
Dennis Hamacher ◽  
Henning Budde ◽  
Thomas Gronwald
Keyword(s):  
Mental Health ◽  
Health Care ◽  
Physical Exercise ◽  
Health Care Providers ◽  
Care Providers ◽  
Physical And Mental Health ◽  
Crucial Point ◽  
Positive Effects ◽  
Advantages And Disadvantages ◽  
Regular Physical Exercise

It is well recognized that regular physical exercise has positive effects on physical and mental health. To use the beneficial health effects of physical exercise, there are worldwide movements encouraging health care providers to include physical exercise in their care and treatments strategies. However, a crucial point in administering the “exercise polypill” is the dosing and, in turn, the prescription of the physical intervention (PI). In this perspective article, we discuss the advantages and disadvantages of different approaches to prescribe PI. In this context, we also highlight outstanding questions and potential areas of opportunity for further investigations.

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

2020 ◽  
Vol 7 (6) ◽  
pp. 1748-1754
Author(s):  
Aimee Jeffrey ◽  
Lauren Andracchio ◽  
Meg Dvorak ◽  
Paula Lomas ◽  
Beth Smith ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Program Evaluation ◽  
Peer Support ◽  
Health Care Providers ◽  
Success Factors ◽  
Family Members ◽  
Well Being ◽  
Support Program ◽  
Care Providers ◽  
Peer Support Program

We sought to evaluate the feasibility, acceptability, and benefits of a virtual one-to-one peer support program for people with cystic fibrosis and their family members through a retrospective program evaluation. This peer support program was developed in collaboration with patients, health care providers, and CF Foundation program staff. Mentees were paired with a trained peer mentor for 3-month mentoring via video, phone, email, or text. We found that the peer support program was feasible and acceptable. Success factors include a range of positive benefits including practical support as well as social and emotional support. Two-thirds of mentees reported at least 4 different benefits. Mentors reported multiple benefits after providing support through mentoring. Our program evaluation demonstrates that virtual peer support based on informal sharing of life experiences is an achievable way to provide social support and enhance health and well-being in chronic disease management.

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