Article
Pediatrics
Heather J. Stalker, Amy R. Jonasson, Sidney M. Hopfer, Melanie Sue Collins
Summary: Genetic counseling through telemedicine was well received by families, leading to improved understanding of CF-related risks for their child and other family members. The study also showed that parents demonstrated better comprehension of the genetic implications of an abnormal CF newborn screen after receiving counseling via telemedicine. Additionally, the use of trained CF genetic counselors through telemedicine proved to be feasible and effective in improving parent understanding of CF genetics across a wide geographical area.
PEDIATRIC PULMONOLOGY
(2023)
Article
Pediatrics
C. Cimbalo, A. Tosco, V. Terlizzi, A. Sepe, A. Castaldo, L. Salvadori, V. Raia
Summary: The sweat chloride test (ST) is commonly used for cystic fibrosis (CF) diagnosis, but false positives have been reported in patients with different diseases. This study presents 4 cases where ST showed false positives due to conditions like celiac disease, Klinefelter syndrome, and side effects of Poly Ethylene Glycol (PEG) treatment, with ST returning to normal after appropriate intervention.
ITALIAN JOURNAL OF PEDIATRICS
(2021)
Article
Pediatrics
Elinor Langfelder-Schwind, Karen S. Raraigh, Richard B. Parad
Summary: This study aims to provide recommendation statements for genetic counseling services for families with positive cystic fibrosis newborn screening. The results are of great significance for improving the quality of genetic counseling services and safeguarding patient rights.
PEDIATRIC PULMONOLOGY
(2022)
Article
Genetics & Heredity
Sevcan Tug Bozdogan, Cem Mujde, Ibrahim Boga, Ozge Sonmezler, Abdullah Hanta, Cagla Rencuzogullari, Dilek Ozcan, Derya Ufuk Altintas, Atil Bisgin
Summary: This study evaluates the genetic testing results of 1595 newborns in Turkey with positive CF NBS program results, showing that 35.1% of patients carried at least one CF-related variant. The most common findings included compound heterozygosity for two mutations and the identification of novel variants. The study highlights the impact of NBS on genetic diagnosis centers and the diversity of CFTR mutations in the Turkish population.
Article
Pediatrics
Halime Nayir Buyuksahin, Nagehan Emiralioglu, Beste Ozsezen, Dilber Ademhan Tural, Birce Sunman, Ismail Guzelkas, Basak Tezel, Didem Dayangac Erden, Ebru Yalcin, Deniz Dogru, Ugur Ozcelik, Nural Kiper
Summary: The study found low sensitivity and positive predictive value of NBS for cystic fibrosis, with infants who tested negative showing symptoms such as feeding reluctance and Pseudobartter syndrome. Early diagnosis did not significantly impact nutritional outcomes, highlighting the need for further large-scale studies to optimize care for infants diagnosed through NBS.
PEDIATRIC PULMONOLOGY
(2022)
Article
Endocrinology & Metabolism
Stacey L. Martiniano, Kendra Croak, Gregory Bonn, Marci K. Sontag, Scott D. Sagel
Summary: The Colorado Newborn Screening Program screens for cystic fibrosis by measuring immunoreactive trypsinogen from two screens coupled with DNA analysis, and identified 7 out of 8 missed CF cases using different cutoff points. Continuous quality improvement is crucial for increasing sensitivity and reducing missed cases.
MOLECULAR GENETICS AND METABOLISM
(2021)
Article
Pediatrics
Katarzyna Zybert, Urszula Borawska-Kowalczyk, Lukasz Wozniacki, Malwina Dawidziuk, Mariusz Oltarzewski, Dorota Sands
Summary: This study identified 11 cystic fibrosis patients with false-negative newborn screening results, diagnosed based on clinical symptoms or siblings with positive screening results. The diagnosis was significantly delayed compared to patients with positive screening results. Additional diagnostics should be performed in the presence of clinical symptoms, even if the screening results are negative.
JORNAL DE PEDIATRIA
(2022)
Article
Genetics & Heredity
Amin Hosseini Nami, Mahboubeh Kabiri, Fatemeh Zafarghandi Motlagh, Tina Shirzadeh, Negar Fakhari, Ali Karimi, Hamideh Bagherian, Mojdeh Jamali, Shahrzad Younesikhah, Sara Shadman, Razie Zeinali, Sirous Zeinali
Summary: This study aimed to describe the CFTR gene mutations and their geographical distribution in Iran. The most frequent CFTR gene mutations in the Iranian population were found to be F508del, c.1000C>T, c.1397C>G, c.1911delG, and c.1393-1G>A. The study also provided evidence that Turkey might be the possible geographical pathway for introducing CFTR gene mutations into Iran.
FRONTIERS IN GENETICS
(2023)
Article
Pediatrics
L. Seddon, K. Dick, S. B. Carr, I. M. Balfour-Lynn
Summary: The majority of parents in a survey conducted in a London pediatric center believed that cystic fibrosis newborn screening results should be communicated face to face rather than over the telephone. There were mixed responses regarding whether parents should be informed of the genotype and CF diagnosis before the confirmatory sweat test.
EUROPEAN JOURNAL OF PEDIATRICS
(2021)
Review
Pediatrics
Linjie Zhang, Seiko Nomiyama, Renata Marcos Bedran, Cristina Goncalves Alvim, Jose Dirceu Ribeiro, Paulo Camargos
Summary: This study conducted a systematic review and meta-analysis to evaluate the diagnostic accuracy of sweat conductivity (SC) for cystic fibrosis (CF) diagnosis. The results showed that SC demonstrated excellent diagnostic performance and can be considered as an alternative to the sweat test for CF diagnosis.
ARCHIVES OF DISEASE IN CHILDHOOD
(2023)
Article
Public, Environmental & Occupational Health
Felicity Boardman, Corinna Clark
Summary: This study explores the perspectives of parents who received positive results from cystic fibrosis (CF) screening and finds that the positive results have a disruptive impact on their lives. For families with CF, the results change their way of life and emphasize familial bonds. For families with uncertain results, the uncertainty becomes a barrier to entry into different social environments.
SOCIAL SCIENCE & MEDICINE
(2022)
Article
Biotechnology & Applied Microbiology
Song Li, Kelsey Hart, Natalie Norton, Clare A. Ryan, Lokesh Guglani, Mark R. Prausnitz
Summary: The study investigated the feasibility of using microneedle patches as an alternative to iontophoresis for inducing sweating with pilocarpine. Results showed that the microneedle patches were able to deliver more pilocarpine and induce comparable sweat volume and chloride concentration in sweat compared to iontophoresis, suggesting a simpler and more accessible alternative for diagnosing CF.
BIOENGINEERING & TRANSLATIONAL MEDICINE
(2021)
Article
Pediatrics
Manuel E. Izquierdo, Chad R. Marion, Wendy C. Moore, Karen S. Raraigh, Jennifer L. Taylor-Cousar, Gary R. Cutting, E. Ampleford, Gregory A. Hawkins, Joe Zein, M. Castro, Loren C. Denlinger, Serpil C. Erzurum, John Fahy, Elliot Israel, Nizar N. Jarjour, David Mauger, Bruce D. Levy, Sally E. Wenzel, Prescott Woodruff, Eugene R. Bleecker, Deborah A. Meyers, Victor E. Ortega
Summary: This study found potentially pathogenic CFTR gene variations in individuals with severe asthma, some of which were strongly associated with CF in white individuals. These findings provide a theoretical basis for CFTR gene sequencing and phenotypic studies in individuals with severe asthma.
PEDIATRIC PULMONOLOGY
(2022)
Article
Pediatrics
Davide Treggiari, Gloria Tridello, Laura Menin, Antonella Borruso, Emily Pintani, Patrizia Iansa, Marco Cipolli, Paola Melotti
Summary: Sweat Cl-/Na+ ratio is significant in distinguishing CF from non-CF subjects, regardless of age. Other ratios show discrimination ability in the overall population, but are less significant in borderline patients.
PEDIATRIC PULMONOLOGY
(2021)
Article
Pediatrics
Bennett O. V. Shum, Glenn Bennett, Akash Navilebasappa, R. Kishore Kumar
Summary: Cystic Fibrosis (CF) is more common in diverse ethnic groups than previously thought, but current molecular diagnostic tools are biased towards the most common CF-causing DNA variants in Caucasians. Full gene sequencing could address racial inequality in CF testing by identifying a wider range of pathogenic variants in non-Caucasians, improving diagnostic accuracy and reducing delays in diagnosis.
Editorial Material
Respiratory System
Susanna A. McColley
JOURNAL OF CYSTIC FIBROSIS
(2020)
Review
Pediatrics
Adrienne P. Savant, Susanna A. McColley
Summary: This article reviews the research and case reports in the field of cystic fibrosis (CF) during 2019, with a specific focus on new research related to pulmonary disease and infections. It is an important resource for healthcare providers caring for CF patients.
PEDIATRIC PULMONOLOGY
(2023)
Review
Pediatrics
Adrienne P. Savant, Susanna A. McColley
Summary: This report focuses on the multisystem manifestations of cystic fibrosis (CF) care, discussing various research studies and reports published in 2019. It highlights the importance of providing improved care for CF patients and their families and the exciting opportunities for involvement in this field.
PEDIATRIC PULMONOLOGY
(2023)
Article
Pediatrics
Meghan E. McGarry, Susanna A. McColley
Summary: This study found that minority groups of cystic fibrosis patients are less likely to be eligible for CFTR modulator therapy, potentially leading to increased disease severity and earlier mortality. This will further contribute to health disparities among people with cystic fibrosis.
PEDIATRIC PULMONOLOGY
(2021)
Article
Pediatrics
Wadsworth A. Williams, Manu Jain, Theresa A. Laguna, Susanna A. McColley
Summary: The survey found that the majority of parents and adults with CF were more willing to disclose the number of categorical ACEs experienced, and were willing to participate in anonymous research. Most participants preferred to have ACE screening separate from CF appointments and wanted to learn more about ACEs from their care team members.
PEDIATRIC PULMONOLOGY
(2021)
Article
Pediatrics
Stacey L. Martiniano, Alexander A. Elbert, Philip M. Farrell, Clement L. Ren, Marci K. Sontag, Runyu Wu, Susanna A. McColley
Summary: During 9 years of CF NBS, the median age at first CF event decreased. CF NBS had positive health impacts, but early life nutritional deficits and a high rate of infant hospitalizations persist.
PEDIATRIC PULMONOLOGY
(2021)
Letter
Pediatrics
Maggie D. Seblani, Susanna A. McColley, Shunyou Gong, Lee M. Bass, Sherif M. Badawy
PEDIATRIC PULMONOLOGY
(2022)
Article
Critical Care Medicine
Jonathan H. Rayment, Fadi Asfour, Margaret Rosenfeld, Mark Higgins, Lingyun Liu, Molly Mascia, Hildegarde Paz-Diaz, Simon Tian, Rachel Zahigian, Susanna A. McColley
Summary: The study evaluated the safety, pharmacokinetics, and pharmacodynamics of lumacaftor/ivacaftor in children aged 1 to <2 years with the F/F genotype. The results showed that the treatment was generally safe and well tolerated, with potential for CF disease modification indicated by significant reductions in sweat chloride concentration. Efficacy results supported the use of lumacaftor/ivacaftor in this population.
AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE
(2022)
Article
Respiratory System
Susanna A. McColley, Stacey L. Martiniano, Clement L. Ren, Marci K. Sontag, Karen Rychlik, Lauren Balmert, Alexander Elbert, Runyu Wu, Philip M. Farrell
Summary: This study evaluated whether the implementation of cystic fibrosis newborn screening leads to equitable timeliness of initial evaluation. The study compared the age at the first event (AFE) between infants of different races and ethnicities (Group 1) and white non-Hispanic infants (Group 2). The study found that differences in AFE for infants with CF from historically marginalized groups may exacerbate long-standing health disparities.
JOURNAL OF CYSTIC FIBROSIS
(2023)
Letter
Pediatrics
Susanna A. McColley
PEDIATRIC PULMONOLOGY
(2022)
Article
Pediatrics
Meghan E. McGarry, Clement L. Ren, Runyu Wu, Philip M. Farrell, Susanna A. McColley
Summary: This study aims to explore the differences in detection rates of CFTR variant panels among different races and ethnicities. It was found that minority racial and ethnic groups have lower detection rates, leading to false-negative newborn screening and delayed diagnoses.
PEDIATRIC PULMONOLOGY
(2023)
Letter
Cardiac & Cardiovascular Systems
Meghan E. McGarry, Susanna A. McColley, Jennifer Taylor-Cousar
RESPIRATORY MEDICINE
(2022)
Article
Medicine, Research & Experimental
Marie E. Heffernan, Leo Barrera, Zecilly R. Guzman, Emily Golbeck, Aneta M. Jedraszko, P. Toddie Hays, Keith A. Herzog, Richard T. D'Aquila, Michael G. Ison, Susanna A. Mccolley
Summary: The study examined barriers and facilitators to recruiting underrepresented research participants in medical research, finding that providing translated materials, incentives, and reducing in-person visits can improve recruitment. Cultural competency training may need further research on its impact.
JOURNAL OF CLINICAL AND TRANSLATIONAL SCIENCE
(2023)
Article
Medicine, Research & Experimental
Nia J. Heard-Garris, Jen F. Brown, Uchenna C. Ewulonu, Mita S. Goel, Adam S. Gordon, Candace Henley, Sadiya S. Khan, Shawn M. Smith, Susanna A. McColley
Summary: This article presents a course designed to teach anti-racist research design and discusses its positive impact on students' research approaches.
JOURNAL OF CLINICAL AND TRANSLATIONAL SCIENCE
(2022)
Article
Genetics & Heredity
Marci K. Sontag, Joshua Miller, Sarah McKasson, Amy Gaviglio, Stacey L. Martiniano, Rhonda West, Marisol Vazquez, Clement L. Ren, Philip M. Farrell, Susanna A. McColley, Yvonne Kellar-Guenther
Summary: Cystic fibrosis newborn screening (NBS) implementation in the United States has led to variations in diagnosis and intervention timing, with challenges including communication difficulties between healthcare providers and families, and misconceptions about clinical risk in infants from ethnic minority groups. However, there is a strong relationship between NBSP and CF centers, and early diagnosis can be facilitated through increased engagement with healthcare providers.
INTERNATIONAL JOURNAL OF NEONATAL SCREENING
(2022)