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.

Vocal Cord Dysfunction During the COVID-19 Pandemic.

Background: Vocal cord dysfunction is an upper-airway disorder characterized by exaggerated and transient glottic constriction causing respiratory and laryngeal symptoms. Common presentation is with inspiratory stridor often in the context of emotional stress and anxiety. Other symptoms include wheezing (which may be on inspiration), frequent cough, choking sensation, or throat and chest tightness.

Hypnosis for Asthma and Vocal Cord Dysfunction in a Patient With Autism.

Wheezing in children often is the result of asthma, but vocal cord dysfunction (VCD) may cause stridor or sounds that sometimes are misattributed to the wheezing of asthma. The frequent comorbidity of asthma and VCD also adds to the difficulty in making a clear diagnosis. The challenges of evaluating and treating wheezing are complicated further in children with developmental disorders, such as autism, because of the difficulties of obtaining an adequate history and assessing the clinical response to treatment.

Exercise intolerance in obese children--is it asthma?

This is a pilot study designed to examine the frequency of asthma in obese children who have exertional dyspnea. Obese children who complained of breathlessness with exercise and who denied asthma were invited to enroll. If there was evidence of airflow limitation on spirometry, nebulized albuterol was administered and spirometry was repeated.

Adolescent asthma: a developmental approach.

Purpose Of Review: The purpose of this review is to update providers on how best to address asthma in adolescents.

Recent Findings: Asthma is a common chronic disease, with increased prevalence in minority populations, especially those living in poverty. Published treatment guidelines form the basis of modern asthma treatment, based on disease severity, frequency of symptoms, and lung function measured by spirometry.

How to best deliver care to children with chronic illness: cystic fibrosis as a model.

Purpose Of Review: Children with special healthcare needs benefit when there is close coordination of care for their chronic disease between specialists and primary care providers. The importance of coordination between primary and specialty care has become better recognized with the increased attention to a comprehensive 'medical home' model of care.

Recent Findings: Care coordination requires close communication between primary care providers and specialty care centers.

Chylothorax fluid autoinfusion in a chronic hemodialysis patient.

A large left-sided pleural effusion occurred in a 12-year-old end-stage renal disease patient undergoing chronic hemodialysis (HD). The fluid had physical and laboratory characteristics of chylothorax (CHTX) and was probably related to the multiple HD accesses placed in the neck area. Initially, thoracenteses were performed and the fluid discarded.