4.0 Article

Clinical findings of patients with cystic fibrosis according to newborn screening results

相关参考文献

注意:仅列出部分参考文献,下载原文获取全部文献信息。
Article Pediatrics

Cystic fibrosis newborn screening: the importance of bloodspot sample quality

Iolo Doull et al.

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)

Article Genetics & Heredity

Current Status of Genetic Diagnosis Laboratories and Frequency of Genetic Variants Associated with Cystic Fibrosis through a Newborn-Screening Program in Turkey

Sevcan Tug Bozdogan et al.

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 Respiratory System

Updated guidance on the management of children with cystic fibrosis transmembrane conductance regulator-related metabolic syndrome/cystic fibrosis screen positive, inconclusive diagnosis (CRMS/CFSPID)

Jurg Barben et al.

Summary: There has been significant progress in the evaluation and management of infants with an inconclusive diagnosis following Newborn Screening for cystic fibrosis over the past two decades. The designation of CRMS/CFSPID is now used consistently across the globe. While majority of these infants remain healthy and do not convert to a diagnosis of CF in childhood, some may convert and need monitoring. A detailed assessment in the sixth year of age is recommended for children with CRMS/CFSPID.

JOURNAL OF CYSTIC FIBROSIS (2021)

Article Pediatrics

Cystic fibrosis in Turkey: First data from the national registry

Deniz Dogru et al.

PEDIATRIC PULMONOLOGY (2020)

Article Genetics & Heredity

Newborn Screening for Cystic Fibrosis in Russia: A Catalyst for Improved Care

Victoria Sherman et al.

INTERNATIONAL JOURNAL OF NEONATAL SCREENING (2020)

Review Genetics & Heredity

Newborn Screening for CF across the Globe-Where Is It Worthwhile?

Virginie Scotet et al.

INTERNATIONAL JOURNAL OF NEONATAL SCREENING (2020)

Editorial Material Respiratory System

Is meconium ileus associated with worse outcomes in cystic fibrosis?

Meghana Sathe et al.

JOURNAL OF CYSTIC FIBROSIS (2019)

Article Immunology

Staphylococcus aureus Impacts Pseudomonas aeruginosa Chronic Respiratory Disease in Murine Models

Cristina Cigana et al.

JOURNAL OF INFECTIOUS DISEASES (2018)

Review Respiratory System

ECFS best practice guidelines: the 2018 revision

Carlo Castellani et al.

JOURNAL OF CYSTIC FIBROSIS (2018)

Article Respiratory System

The benefits of newborn screening for cystic fibrosis: The Canadian experience

D. Y. F. Mak et al.

JOURNAL OF CYSTIC FIBROSIS (2016)

Article Pediatrics

Inconclusive Diagnosis of Cystic Fibrosis After Newborn Screening

Chee Y. Ooi et al.

PEDIATRICS (2015)

Article Medicine, General & Internal

Cystic fibrosis

Felix Ratjen et al.

NATURE REVIEWS DISEASE PRIMERS (2015)

Article Respiratory System

Sweat conductivity: An accurate diagnostic test for cystic fibrosis?

Ana Claudia Veras Mattar et al.

JOURNAL OF CYSTIC FIBROSIS (2014)

Article Endocrinology & Metabolism

Differences in clinical condition and genotype at time of diagnosis of cystic fibrosis by newborn screening or by symptoms

A. M. M. Vernooij-van Langen et al.

MOLECULAR GENETICS AND METABOLISM (2014)

Article Respiratory System

Chronic Pseudomonas aeruginosa infection definition: EuroCareCF Working Group report

T. Pressler et al.

JOURNAL OF CYSTIC FIBROSIS (2011)

Review Respiratory System

European best practice guidelines for cystic fibrosis neonatal screening

Carlo Castellani et al.

JOURNAL OF CYSTIC FIBROSIS (2009)

Article Ethics

Newborn screening: new developments, new dilemmas

NJ Kerruish et al.

JOURNAL OF MEDICAL ETHICS (2005)