Real-world effectiveness of elexacaftor/tezacaftor/ivacaftor on the burden of illness in adolescents and adults with cystic fibrosis.

Background: Elexacaftor/tezacaftor/ivacaftor (ELX/TEZ/IVA) has been shown to be safe and efficacious in people with cystic fibrosis (CF) aged ≥2 years. Here, we describe results from an observational study assessing change in burden of illness following initiating ELX/TEZ/IVA in real-world settings.

Methods: This US-based, multicenter, observational study used data from electronic medical records to evaluate real-world burden of illness before and after ELX/TEZ/IVA initiation in people with CF aged ≥12 years heterozygous for and a minimal function mutation (/MF) or an uncharacterized mutation.

Elevated transaminases in congenital central hypoventilation syndrome.

https://bit.ly/3uW7AUG.

The positive impact of journaling on adolescents with cystic fibrosis.

Background: Individuals with cystic fibrosis (CF) often have psychological difficulties on top of their medically complex care, such as anxiety, depression, and medical mistrust. These have been shown to be associated with worse adherence, pulmonary function test results, and other health outcomes. In this pilot trial, we implemented a journaling program based on narrative therapy methodology to improve mental and physical health outcomes for individuals with CF.

When to panic about a panic attack: A challenging case of hypersensitivity pneumonitis.

The COVID-19 pandemic has created diagnostic difficulties with the increase in mental health illnesses that often present with nonspecific symptoms, like hypersensitivity pneumonitis. Hypersensitivity pneumonitis is a complex syndrome of varying triggers, onset, severity, and clinical manifestations that can be challenging to diagnose in many cases. Typical symptoms are nonspecific and can be attributed to other entities.

Clinical Features of COVID-19 in Patients with Congenital Central Hypoventilation Syndrome.

The clinical course of COVID-19 in patients with congenital central hypoventilation syndrome (CCHS) is unknown. We conducted a cross-sectional questionnaire study in 43 patients with CCHS who had COVID-19. The median age of patients was 11 [interquartile range (IQR) 6-22] years and 53.

Obstructive sleep apnea as a presentation of congenital central hypoventilation syndrome.

Unlabelled: Congenital central hypoventilation syndrome is a rare disorder due to a mutation in the gene, characterized by a failure in autonomic control of breathing with diminished or absent response to hypoxia and hypercapnia, which is most pronounced during sleep. Most patients present from birth with central apneas and hypoventilation, or later in the setting of a physiologic stress. Recent literature in mice with a mutation suggests a predisposition to obstructive apneas likely due to hypoglossal dysgenesis.

The prevalence of abnormal spirometry in children with CHD.

Background: The burden of pulmonary disease in children with CHD remains under-recognised. Studies have examined children with single ventricle and two ventricle heart disease and documented a decreased forced vital capacity. Our study sought to further explore the pulmonary function of children with CHD.

Congenital central hypoventilation syndrome without hypoventilation: is it congenital central hypoventilation syndrome?

Unlabelled: Congenital central hypoventilation syndrome (CCHS) is a rare condition caused by pathogenic variants of the gene. There have been case reports describing variable phenotypes and mutations of the gene, not commonly tested for, that may challenge the classic definition of CCHS. We report on 3 family members with a rare heterozygous deletion encompassing the entire gene with variable phenotypes, including sleep-disordered breathing and autonomic nervous system involvement, but an unexpected lack of alveolar hypoventilation, which is usually a defining feature of CCHS.

High rates of anxiety detected in mothers of children with inconclusive cystic fibrosis screening results.

Objective: The purpose was to assess postpartum depression, anxiety, and depression in mothers of children with an inconclusive diagnosis after a positive cystic fibrosis (CF) newborn screening (NBS), known as cystic fibrosis transmembrane conductance regulator (CFTR)-related metabolic syndrome (CRMS) or CF screen positive, inconclusive diagnosis (CFSPID). There is limited information on the prognosis and on the impact of this designation on maternal mental health.

Methods: Mothers of children with CRMS/CFSPID and CF identified by NBS were recruited from two centers in California.

Transitional care and clinical management of adolescents, young adults, and suspected new adult patients with congenital central hypoventilation syndrome.

Purpose: With contemporaneous advances in congenital central hypoventilation syndrome (CCHS), recognition, confirmatory diagnostics with PHOX2B genetic testing, and conservative management to reduce the risk of early morbidity and mortality, the prevalence of identified adolescents and young adults with CCHS and later-onset (LO-) CCHS has increased. Accordingly, there is heightened awareness and need for transitional care of these patients from pediatric medicine into a multidisciplinary adult medical team. Hence, this review summarizes key clinical and management considerations for patients with CCHS and LO-CCHS and emphasizes topics of particular importance for this demographic.

Perioperative outcomes and the effects of anesthesia in congenital central hypoventilation patients.

Purpose: Patients with congenital central hypoventilation syndrome (CCHS) have autonomic dysfunction and lack ventilatory responses to hypoxemia and hypercarbia and thus are prone to adverse events during general anesthesia. The objective of this study was to describe the perioperative outcomes of patients with CCHS who were undergoing diaphragm pacer (DP) implantation surgeries under general anesthesia.

Methods: A retrospective cohort study was conducted on patients with CCHS who underwent DP implantation surgeries at CHLA between January 2000 and May 2016.

Impaired ventilation during 6-min walk test in congenital central hypoventilation syndrome.

Background: Patients with congenital central hypoventilation syndrome (CCHS) can develop hypoxemia and hypercapnia during exercise. However, there is limited literature on cardiorespiratory responses during submaximal exercise and their correlation with paired-like homeobox 2B (PHOX2B) genotype.

Objectives: To assess oxygen saturation (SpO ), end-tidal carbon dioxide (ETCO ), heart rate (HR), and 6-min walk distance (6MWD) during a 6-min walk test (6MWT) in CCHS subjects and to correlate them with PHOX2B genotypes and assisted ventilation (AV) via tracheostomy.

Pediatric Cardiopulmonary Exercise Testing: Interoperability Through Domain Analysis Modeling and a National Survey.

Purpose: The electronic health record, data science advances, and dynamic environmental and infectious threats to child health highlight the need for harmonized and interoperable approaches to pediatric cardiopulmonary exercise testing (CPET). Accordingly, we developed a terminology harmonization in exercise medicine and exercise science domain analysis model (THEMES DAM) to structure CPET data elements.

Methods: THEMES DAM identified 114 data elements, including participant information, calibration, equipment, protocols, laboratory personnel, encouragement strategies, and analysis procedures.

Does acute flaccid myelitis cause respiratory failure in children?

Introduction: Acute flaccid myelitis (AFM) is a rare disease that affects spinal cord gray matter, results in acute flaccid weakness of one or more limbs and predominantly involves the cervical spinal cord, which places patients at higher risk for respiratory failure. Our study aims to describe respiratory failure in pediatric AFM patients with emphasis on the need for assisted ventilation and respiratory nerve involvement from an acute and long-term perspective.

Materials And Methods: We reviewed the medical records of patients diagnosed with AFM seen in a multidisciplinary clinic for persistent limb weakness between 2016 and 2020.

An unusual cause of diaphragm pacer failure in congenital central hypoventilation syndrome.

Unlabelled: Congenital central hypoventilation syndrome is a rare genetic disorder affecting ventilatory response to hypercapnia and/or hypoxemia. We describe a case of diaphragm pacing (DP) failure in a 38-year-old woman with congenital central hypoventilation syndrome who used DP as ventilatory support only during sleep for 24 years. Diagnostic evaluation began with examination of external DP equipment, but adjustment did not elicit adequate diaphragm contractions.

Children with Congenital Central Hypoventilation Syndrome Do Not Wake up to Ventilator Alarms.

Purpose: Congenital Central Hypoventilation Syndrome (CCHS) requires lifelong ventilatory support during sleep. Subjects with CCHS are vulnerable to sleep disturbances associated with treatments, monitoring alarms, and care they receive. We hypothesized that sleep would be disrupted in patients  with CCHS due to ventilatory support and other treatments at night.

Annual Respiratory Evaluations in Congenital Central Hypoventilation Syndrome and Changes in Ventilatory Management.

Annual in-hospital respiratory evaluations (AREs) during wakefulness and sleep are recommended to assess ventilatory requirements in patients with congenital central hypoventilation syndrome (CCHS) aged ≥2-3 years based on expert consensus. This study aimed to determine if AREs in patients with CCHS led to changes in ventilatory management. Retrospective review of patients with CCHS who underwent AREs with or without polysomnography between 2017 and 2019 was conducted.

Variable phenotypes in congenital central hypoventilation syndrome with nonpolyalanine repeat mutations.

Study Objectives: Congenital central hypoventilation syndrome (CCHS) is a rare disorder affecting the autonomic nervous system that is caused by variants in the paired-like homeobox 2B () gene. About 10% of patients with CCHS have nonpolyalanine repeat mutations (NPARM) that are associated with severe phenotypes requiring continuous assisted ventilation, Hirschsprung's disease, and increased neural crest tumor risk. However, some patients with NPARM have milder phenotypes.

Can Text Messaging Teach Residents? A Randomized Controlled Trial.

Spaced education and the testing effect are both educational methods that increase long-term memory formation; however, these can be difficult to implement during residency training given time constraints. Text messaging is ubiquitous but has not been studied as a spaced education tool. Assess if text messaging improves resident knowledge during an inpatient pediatric pulmonary rotation.

Tracheostomy decannulation to noninvasive positive pressure ventilation in congenital central hypoventilation syndrome.

Purpose: Noninvasive positive pressure ventilation (NPPV) may permit tracheostomy decannulation (TD) in patients with congenital central hypoventilation syndrome (CCHS) requiring nocturnal positive pressure ventilation via tracheostomy (PPV-T). There is limited evidence on optimal strategies for transitioning patients from PPV-T to NPPV. This study aimed to describe the clinical course and outcome of children with CCHS who underwent TD and transitioned from PPV-T to NPPV.

Abnormal Lung Clearance Index in Cystic Fibrosis Children with Normal FEV and Single-Breath Nitrogen Washout Test.

Single- and multiple-breath washout tests (SBW and MBW) measure ventilation inhomogeneity, but the relationship between them is unclear. Forty-three subjects with cystic fibrosis (CF) and healthy controls (HC) 8-21 years of age were recruited (CF = 30 and HC = 13) and performed nitrogen MBW, vital capacity SBW, spirometry, and plethysmography. Mean phase III slope from SBW (SIII) and lung clearance index (LCI) were significantly different between CF and HC (p = 0.

Pregnancy in congenital central hypoventilation syndrome.

Background: Congenital central hypoventilation syndrome is a rare genetic disorder of autonomic regulation of breathing resulting from mutations in the paired-like homeobox gene. Individuals with congenital central hypoventilation syndrome demonstrate an absent or diminished physiological response to hypercapnia and hypoxia that is most severe during sleep and depend on mechanical ventilation to maintain normal gas exchange. Increased disease awareness and availability of paired-like homeobox gene testing has improved congenital central hypoventilation syndrome morbidity and mortality, and patients are now living into adulthood.