scholarly journals Early Diagnosis and Intervention in Cystic Fibrosis: Imagining the Unimaginable

2021 ◽  
Vol 8 ◽  
Author(s):  
Andrea M. Coverstone ◽  
Thomas W. Ferkol
Keyword(s):  
Cystic Fibrosis ◽  
Early Diagnosis ◽  
The United States ◽  
Poor Growth ◽  
Common Life ◽  
Screening Programs ◽  
Specific Effects ◽  
Growth And Nutrition ◽  
Cystic Fibrosis Lung Disease ◽  
Fat Malabsorption

Cystic fibrosis is the most common life-shortening genetic disease affecting Caucasians, clinically manifested by fat malabsorption, poor growth and nutrition, and recurrent sinopulmonary infections. Newborn screening programs for cystic fibrosis are now implemented throughout the United States and in many nations worldwide. Early diagnosis and interventions have led to improved clinical outcomes for people with cystic fibrosis. Newer cystic fibrosis transmembrane conductance regulator potentiators and correctors with mutation-specific effects have increasingly been used in children, and these agents are revolutionizing care. Indeed, it is possible that highly effective modulator therapy used early in life could profoundly affect the trajectory of cystic fibrosis lung disease, and primary prevention may be achievable.

Cystic Fibrosis

1999 ◽  
Vol 123 (11) ◽  
pp. 1041-1046 ◽  
Author(s):  
Wayne W. Grody
Keyword(s):  
Cystic Fibrosis ◽  
Screening Program ◽  
Molecular Genetic ◽  
The United States ◽  
Carrier Screening ◽  
Cftr Gene ◽  
Current Status ◽  
Molecular Heterogeneity ◽  
Screening Programs ◽  
Cftr Mutations

Abstract Objective.—To review the current status of scientific knowledge and opinion regarding molecular genetic testing of mutations in the CFTR gene for purposes of diagnosis and population carrier screening of cystic fibrosis (CF). Data Sources.—Published research findings on the nature of the CFTR gene, pilot population screening studies in the United States and Europe, and ongoing deliberations of professional and governmental agencies considering implementation of widespread testing. Study Selection.—Findings relevant to the molecular heterogeneity of CFTR mutations and its implications for population carrier screening were considered. Data Extraction.—Information was extracted from studies published by us and others, as made available to recent consensus panels and professional committees. Data Synthesis.—These data were reevaluated in light of recent movements in professional and public policy regarding acceptability and desirability of widespread CF mutation testing. Effects to date of such testing on patient outcomes is reported. Conclusions.—The ability to test for CFTR mutations at the molecular level has already improved the diagnosis of symptomatic patients and expanded the reproductive options of family members of CF patients. The same technology also holds promise of identifying asymptomatic carriers and at-risk couples without family history in the general population so that they too might be offered prenatal diagnosis or other options. However, a number of key questions remain to be worked out before a widespread national screening program can be put into practice. These include the target population to be offered testing (the entire population vs high-risk ethnic groups), the size and nature of the mutation test panel (universal vs ethnic specific), the inclusion or exclusion of CFTR variants that do not cause classical CF, the optimal testing technology, appropriate standards for laboratory quality assurance, and the development of sufficient educational materials and genetic counseling resources for test delivery, reporting, and interpretation. The answers to these questions will be relevant not only to CF testing but also to many other large-scale molecular genetic screening programs being considered in the future.

scholarly journals Risk Factors for the Progression of Cystic Fibrosis Lung Disease throughout Childhood

2014 ◽  
Vol 11 (1) ◽  
pp. 63-72 ◽  
Author(s):  
Don B. Sanders ◽  
Zhanhai Li ◽  
Anita Laxova ◽  
Michael J. Rock ◽  
Hara Levy ◽  
...  
Keyword(s):  
Risk Factors ◽  
Cystic Fibrosis ◽  
Lung Disease ◽  
Cystic Fibrosis Lung ◽  
Cystic Fibrosis Lung Disease

scholarly journals Magnetic Resonance–Guided Prostate Ablation

2019 ◽  
Vol 36 (05) ◽  
pp. 351-366
Author(s):  
David A. Woodrum ◽  
Akira Kawashima ◽  
Krzysztof R. Gorny ◽  
Lance A. Mynderse
Keyword(s):  
Prostate Cancer ◽  
Prediction Models ◽  
Focal Therapy ◽  
The United States ◽  
Management Approach ◽  
Low Grade ◽  
Intermediate Risk ◽  
Screening Programs ◽  
Risk Prostate Cancer ◽  
Prostate Cancers

AbstractIn 2019, the American Cancer Society (ACS) estimates that 174,650 new cases of prostate cancer will be diagnosed and 31,620 will die due to the prostate cancer in the United States. Prostate cancer is often managed with aggressive curative intent standard therapies including radiotherapy or surgery. Regardless of how expertly done, these standard therapies often bring significant risk and morbidity to the patient's quality of life with potential impact on sexual, urinary, and bowel functions. Additionally, improved screening programs, using prostatic-specific antigen and transrectal ultrasound-guided systematic biopsy, have identified increasing numbers of low-risk, low-grade “localized” prostate cancer. The potential, localized, and indolent nature of many prostate cancers presents a difficult decision of when to intervene, especially within the context of the possible comorbidities of aggressive standard treatments. Active surveillance has been increasingly instituted to balance cancer control versus treatment side effects; however, many patients are not comfortable with this option. Although active debate continues on the suitability of either focal or regional therapy for the low- or intermediate-risk prostate cancer patients, no large consensus has been achieved on the adequate management approach. Some of the largest unresolved issues are prostate cancer multifocality, limitations of current biopsy strategies, suboptimal staging by accepted imaging modalities, less than robust prediction models for indolent prostate cancers, and safety and efficiency of the established curative therapies following focal therapy for prostate cancer. In spite of these restrictions, focal therapy continues to confront the current paradigm of therapy for low- and even intermediate-risk disease. It has been proposed that early detection and proper characterization may play a role in preventing the development of metastatic disease. There is level-1 evidence supporting detection and subsequent aggressive treatment of intermediate- and high-risk prostate cancer. Therefore, accurate assessment of cancer risk (i.e., grade and stage) using imaging and targeted biopsy is critical. Advances in prostate imaging with MRI and PET are changing the workup for these patients, and advances in MR-guided biopsy and therapy are propelling prostate treatment solutions forward faster than ever.

scholarly journals Identification of IFRD1 as a modifier gene for cystic fibrosis lung disease

Nature ◽  
2009 ◽  
Vol 458 (7241) ◽  
pp. 1039-1042 ◽  
Author(s):  
YuanYuan Gu ◽  
Isaac T. W. Harley ◽  
Lindsay B. Henderson ◽  
Bruce J. Aronow ◽  
Ilja Vietor ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Lung Disease ◽  
Modifier Gene ◽  
Cystic Fibrosis Lung ◽  
Cystic Fibrosis Lung Disease
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