Genetic counseling access and service delivery in New York State is variable for parents of infants with complex CFTR genotypes conferring uncertain phenotypes.

Background: New York State (NYS) utilizes a three-tiered cystic fibrosis newborn screening (CFNBS) algorithm that includes cystic fibrosis transmembrane conductance regulator (CFTR) gene sequencing. Infants with >1 CFTR variant of potential clinical relevance, including variants of uncertain significance or varying clinical consequence are referred for diagnostic evaluation at NYS cystic fibrosis (CF) Specialty Care Centers (SCCs).

Aims: As part of ongoing quality improvement efforts, demographic, screening, diagnostic, and clinical data were evaluated for 289 CFNBS-positive infants identified in NYS between December 2017 and November 2020 who did not meet diagnostic criteria for CF and were classified as either: CFTR-related metabolic syndrome/CF screen positive, inconclusive diagnosis (CRMS/CFSPID) or CF carriers.

Changes in Body Mass Index in Children and Adolescents with Asthma during the COVID-19 Pandemic.

Increased weight gain in children during the COVID-19 pandemic has been reported. Changes in weight in children with asthma during this period have not been well described. Retrospective review of children with asthma, 6-18 years of age, seen in 2019 and 2020.

The relationship between weight and pulmonary outcomes in overweight and obese people with cystic fibrosis: A retrospective observational study.

Background: A major focus in cystic fibrosis (CF) care aims to increase weight gain. Rates of overweight and obese people with CF have gradually increased over the past decade. Obesity could be a risk for restriction of lung volumes and airway obstruction as well as increase rates of pulmonary exacerbations in people with CF.

Counseling Tobacco Smoke Exposure Reduction Measures in Pediatrics: A Quality Improvement Project.

Unlabelled: With over 40% of children in the USA exposed to tobacco smoke, the AAP recommends tobacco smoke exposure (TSE) assessment during clinic visits. We aimed to increase the rates of TSE screening and provider counseling regarding TSE reduction using an evidence-based approach.

Methods: We conducted the project at a large pediatric pulmonology practice.

Incidence and prevalence of common respiratory pathogens before and after implementation of the Cystic Fibrosis Foundation Infection Prevention and Control Guideline.

Background: The 2013 Cystic Fibrosis Foundation's Infection Prevention and Control Guideline (CFF IP&C) was developed to reduce the risk of acquisition and transmission of respiratory pathogens in patients with cystic fibrosis (CF).

Objective: We hypothesised that the incidence of common CF respiratory pathogens would decrease at our centre after implementation of the guideline.

Methods: All patients with CF seen at our centre from August 2012 through August 2017 who had respiratory cultures were included.

Efficacy and safety of the elexacaftor plus tezacaftor plus ivacaftor combination regimen in people with cystic fibrosis homozygous for the F508del mutation: a double-blind, randomised, phase 3 trial.

Background: Cystic fibrosis transmembrane conductance regulator (CFTR) modulators correct the basic defect caused by CFTR mutations. Improvements in health outcomes have been achieved with the combination of a CFTR corrector and potentiator in people with cystic fibrosis homozygous for the F508del mutation. The addition of elexacaftor (VX-445), a next-generation CFTR corrector, to tezacaftor plus ivacaftor further improved F508del-CFTR function and clinical outcomes in a phase 2 study in people with cystic fibrosis homozygous for the F508del mutation.

Staphylococcus aureus nasal colonization among pediatric cystic fibrosis patients and their household contacts.

Background: Little is known about the prevalence of Staphylococcus aureus nasal colonization and the epidemiology of methicillin-susceptible and methicillin-resistant S. aureus (MRSA) among cystic fibrosis (CF) patients and their household members.

Objectives: We sought to determine the epidemiology of S.