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.

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.

A Pilot Study of RNA Sequencing to Improve the Diagnostic Yield of Bronchoalveolar Lavage Specimens in Pediatric Allogeneic Hematopoietic Stem Cell Transplant Recipients.

Background: Pulmonary complications often cause morbidity and mortality in pediatric allogeneic hematopoietic stem cell transplant (HSCT) recipients. While detection of infection and initiation of appropriate antimicrobial therapy improves survival, present techniques oftentimes do not detect infections in bronchoalveolar lavage (BAL) samples because of pretreatment with antimicrobial therapies and the need for a priori knowledge of likely viral pathogens, decreasing the yield of BAL.

Objective: We evaluated whether RNA-based massively parallel sequencing (MPS) would improve detection of infections in BAL fluid in pediatric allogeneic HSCT recipients.

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.

Perceptions of safety monitoring in CF clinical studies and potential impact on future study participation.

Background: Individuals with CF and their parents cite safety concerns as barriers to participating in clinical studies. We assessed whether a brochure/infographic describing patient safety monitoring processes could reduce knowledge and attitude barriers regarding safety monitoring. We also identified factors associated with likely participation in future CF studies.

Bronchodilators, Antibiotics, and Oral Corticosteroids Use in Primary Care for Children With Cough.

Real-world management decisions for acute cough in children in primary care practice are not well understood. This study is an analysis of 560 encounters for children with cough, 19 days to 18 years of age, seen in a predominantly suburban academic pediatric practice, over 1 year. Past history, cough duration, and cough characteristics significantly affected treatment decisions.

Comparison of the Severity of Respiratory Disease in Children Testing Positive for Enterovirus D68 and Human Rhinovirus.

Objective: To compare the characteristics and severity of respiratory disease in children testing positive for enterovirus D68 (EV-D68) and for human rhinovirus (RhV).

Study Design: A retrospective single center study of children presenting with acute respiratory symptoms and positive polymerase chain reaction for RhV/EV from September 1, 2014 through October 31, 2014 was performed. Specimens were subsequently tested specifically for EV-D68 and specimens identified as RhV were subtyped when possible into RhV-A, RhV-B, and RhV-C species.

Development of nondestructive non-contact acousto-thermal evaluation technique for damage detection in materials.

This paper presents the development of a new non-contact acousto-thermal signature (NCATS) nondestructive evaluation technique. The physical basis of the method is the measurement of the efficiency of the material to convert acoustic energy into heat, and a theoretical model has been used to evaluate this. The increase in temperature due to conversion of acoustic energy injected into the material without direct contact was found to depend on the thermal and elastic properties of the material.

Focusing of longitudinal ultrasonic waves in air with an aperiodic flat lens.

Modeling and experimental results of an ultrasonic aperiodic flat lens for use in air are presented. Predictive modeling of the lens is performed using a hybrid genetic-greedy algorithm constrained to a linear structure. The optimized design parameters are used to fabricate a lens.

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.