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)
Article
Genetics & Heredity
Brittan Armstrong, Kurt D. Christensen, Casie A. Genetti, Richard B. Parad, Jill Oliver Robinson, Carrie L. Blout Zawatsky, Bethany Zettler, Alan H. Beggs, Ingrid A. Holm, Robert C. Green, Amy L. McGuire, Hadley Stevens Smith, Stacey Pereira
Summary: This study investigates parents' attitudes towards population-based newborn screening (NBS) and newborn genomic sequencing (nGS). The results show that most parents support all newborns receiving standard NBS, but have lower support for nGS. Furthermore, most parents are very interested in receiving information on their baby's risk of developing diseases from nGS.
FRONTIERS IN GENETICS
(2022)
Article
Pediatrics
Simon Gapp, Sven F. Garbade, Patrik Feyh, Inken Brockow, Uta Nennstiel, Georg F. Hoffmann, Olaf Sommerburg, Gwendolyn Gramer
Summary: CF-NBS is highly regarded by parents, but there are still some issues. Only a minority of parents were informed about CF-NBS by a physician, despite it being required by law. Parents were relatively satisfied with the information provided about NBS and positive CF-NBS, but the majority expressed negative emotions. While most parents' emotions were resolved after confirmatory testing, some parents of false-positive cases and confirmed CF cases remained anxious. Parents who had to wait for a longer time for confirmatory testing were less satisfied. Parents were generally satisfied with the information provided during confirmatory diagnostics and participating in CF-NBS.
PEDIATRIC PULMONOLOGY
(2023)
Article
Pediatrics
Iolo Doull, Christopher William Course, Ruth E. Hanks, Kevin W. Southern, Julian T. Forton, Lena P. Thia, Stuart J. Moat
Summary: The study aimed to determine the causes of false negative cases in CF newborn screening and found that the majority of false negatives were associated with poor quality DBS samples. Improving the quality of DBS samples would be the optimal way to enhance the sensitivity of the CF NBS programme.
ARCHIVES OF DISEASE IN CHILDHOOD
(2021)
Review
Pediatrics
Ioanna Loukou, Maria Moustaki, Konstantinos Douros
Summary: The aim of this study was to familiarize clinicians with the terms cystic fibrosis transmembrane conductance regulator related metabolic syndrome (CRMS) and cystic fibrosis screen positive inconclusive diagnosis (CFSPID), and to highlight the monitoring and outcomes of children with these designations. A literature review was performed to gather relevant articles, and the results showed that despite newborn screening programs for cystic fibrosis, the diagnosis remains uncertain for some infants. CRMS/CFSPID was established as a unified definition in 2016, but longer longitudinal studies are needed to determine the appropriate follow-up for these children. It is important for pediatricians to be knowledgeable about this condition and for children to be in contact with their local CF center.
Review
Biology
Joan Kathleen DeCelie-Germana, Lynn Bonitz, Elinor Langfelder-Schwind, Catherine Kier, Barry Lawrence Diener, Maria Berdella
Summary: As of December 2009, cystic fibrosis (CF) newborn screening (NBS) is performed in all 50 US states and the District of Columbia. Widespread implementation of CF newborn screening (CFNBS) in the US and internationally has brought about new and varied challenges. Advances in genetic testing have provided an opportunity for earlier identification of babies with CF through CFTR sequencing, improving long-term outcomes through prompt treatment and intervention.
Article
Dentistry, Oral Surgery & Medicine
Taha Emre Kose, Dilara Nil Gunacar, Ipek Arslan, Kadriye Peker
Summary: This study aimed to investigate the knowledge, beliefs, and attitudes towards pediatric dental radiography among Turkish parents seeking dental care for their children. The results showed that most parents had some knowledge and positive attitudes towards dental X-rays, but there is still room for improvement. Parents' education levels, information needs, and beliefs were found to be important factors affecting their knowledge. Attitudes towards radiation safety and goodness should be improved.
CLINICAL ORAL INVESTIGATIONS
(2022)
Article
Multidisciplinary Sciences
John A. List, Julie Pernaudet, Dana L. Suskind
Summary: Socioeconomic disparities impact parental beliefs about early investments in children, with higher SES parents more likely to believe in its impact on child development. Randomized controlled trials show that parental beliefs about child development are malleable, and interventions aimed at changing these beliefs can improve parent-child interactions and enhance children's skills.
NATURE COMMUNICATIONS
(2021)
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
Tugba Ramasli Gursoy, Pelin Asfuroglu, Tugba Sismanlar Eyuboglu, Ayse Tana Aslan, Asli Imran Yilmaz, Gokcen Unal, Busra Sultan Kibar, Sevgi Pekcan, Melih Hangul, Mehmet Kose, Isil Irem Budakoglu, Deniz Acican
Summary: This cross-sectional study aimed to evaluate the cutoff values of immunoreactive trypsinogen (IRT) and investigate the relationship between IRT values and clinical characteristics in children with cystic fibrosis (CF). The study included data from children with positive newborn screening (NBS) from 2015 to 2021. Sensitivity and specificity of IRT cutoff values were assessed, and the positive predictive value (PPV) was determined. The study found that while the sensitivity of CF NBS was high, the PPV was significantly lower than expected. Revising the NBS strategy may help overcome false-positive results.
EUROPEAN JOURNAL OF PEDIATRICS
(2023)
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.
Review
Dentistry, Oral Surgery & Medicine
Thais Salles Pereira, Camila Alvarenga da Silva, Emily Caroline Silva Quirino, Gesner Francisco Xavier Junior, Eliana Mitsue Takeshita, Luciana Butini Oliveira, Graziela De Luca Canto, Carla Massignan
Summary: This systematic review investigated parents' beliefs and attitudes towards teething. The majority of parents believed in signs and symptoms associated with teething, with only a few of them choosing not to take any action and wait for the signs and symptoms to pass.
INTERNATIONAL JOURNAL OF PAEDIATRIC DENTISTRY
(2023)
Article
Critical Care Medicine
Mirjam Stahl, Eva Steinke, Simon Y. Graeber, Cornelia Joachim, Christoph Seitz, Hans-Ulrich Kauczor, Monika Eichinger, Susanne Haemmerling, Olaf Sommerburg, Mark O. Wielpuetz, Marcus A. Mall
Summary: The study showed that MRI can detect the progression of lung disease and the benefits of early diagnosis using NBS in preschool children with CF. Increase in MRI global score was associated with symptoms like cough and pulmonary exacerbations. MRI is suggested as a sensitive outcome measure for diagnostic monitoring and early intervention trials in preschool children with CF.
AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE
(2021)
Article
Pediatrics
Michael J. J. Rock, Mei Baker, Nicholas Antos, Philip M. M. Farrell
Summary: Using next generation sequencing (NGS) in combination with immunoreactive trypsinogen (IRT) can effectively identify infants at risk for cystic fibrosis (CF) without significantly increasing the rate of detecting carriers. NGS has the potential to enhance equity, sensitivity, and detection of more CF patients with 2 variants during the screening process.
PEDIATRIC PULMONOLOGY
(2023)
Article
Pediatrics
Annemarie G. Wolfe, Stephanie P. Gilley, Stephanie W. Waldrop, Christina Olson, Emma Harding, Kaitlin Widmer, Lindsey B. Gumer, Matthew Haemer, Jordana E. Hoppe
Summary: Universal newborn screening has changed the way CF is diagnosed, with nearly all cases being detected shortly after birth. However, clinicians should still be aware of the possibility of CF in newborns with normal screening results.
FRONTIERS IN PEDIATRICS
(2023)
Review
Oncology
Alexander Stark, O. Joe Hines
SEMINARS IN ONCOLOGY
(2015)
Article
Surgery
Alexander P. Stark, Hui-Hua Chang, Xiaoman Jung, Aune Moro, Kathleen Hertzer, Mu Xu, Andrea Schmidt, O. Joe Hines, Guido Eibl
Article
Surgery
Alexander P. Stark, Greg D. Sacks, Matthew M. Rochefort, Timothy R. Donahue, Howard A. Reber, James S. Tomlinson, David W. Dawson, Guido Eibl, O. Joe Hines
Article
Obstetrics & Gynecology
Alexander P. Stark, Colleen Walsh Lang, Lainie Friedman Ross
AMERICAN JOURNAL OF PERINATOLOGY
(2011)
Article
Oncology
Alexander P. Stark, Jeannelyn S. Estrella, Yi-Ju Chiang, Prajnan Das, Bruce D. Minsky, Mariela A. Blum Murphy, Jaffer A. Ajani, Paul Mansfield, Brian D. Badgwell, Naruhiko Ikoma
JOURNAL OF SURGICAL ONCOLOGY
(2020)