: An Index to Predict Lung Function Decline in Primary Ciliary Dyskinesia.

Primary ciliary dyskinesia (PCD) is a rare, genetically heterogeneous disorder that impairs mucociliary clearance and leads to progressive lung disease. This study aimed to characterize lung function decline in a genetically homogeneous cohort of Puerto Rican patients with -associated PCD and to develop a clinical tool to predict lung function decline and support transplant referral decisions. We conducted a retrospective chart review of patients ( = 25) with a confirmed [c.

Impact of Aerobic Exercise on Oxygenation, Pulmonary Function, and Nasal Nitric Oxide in Primary Ciliary Dyskinesia.

Background: Primary Ciliary Dyskinesia (PCD) is a rare genetic disorder characterized by impaired mucociliary clearance, resulting in chronic respiratory complications. While exercise benefits respiratory health, its impacts on PCD remain understudied.

Objective: The objective of this study was to assess how moderate aerobic exercise influences FEV1, SpO2, and nNO levels in PCD patients, with a focus on short-term post-exercise changes.

Overlapping Clinical Phenotypes in Patients with Primary Ciliary Dyskinesia or Activated Phosphoinositide 3-Kinase Delta Syndrome.

Primary ciliary dyskinesia and activated phosphoinositide 3-kinase delta syndrome type 1 present similarly, with recurrent respiratory infections and reduced nasal nitric oxide levels. When diagnostic confirmation of primary ciliary dyskinesia with genetic testing and/or ciliary electron microscopy is inconclusive, activated phosphoinositide 3-kinase delta syndrome type 1 and other inborn errors of immunity must be investigated.

Effect of an In-Home Palivizumab Administration Program for Children with Medical Complexity.

Background: In-home palivizumab administration programs (PH) have shown promise in reducing RSV-associated infections. These programs may be particularly beneficial for children with medical complexity (CMC) by limiting their exposure to healthcare-associated infections (HAIs) from non-RSV-related pathogens during transportation and visits to medical facilities.

Methods: In this prospective study, 41 children with CMC less than 2 years of age were randomized by their health insurance to receive PH or in the clinic (PC) during the RSV season (October 2018-April 2019).

Evaluation of Open-Source Ciliary Analysis Software in Primary Ciliary Dyskinesia: A Comparative Assessment.

Primary Ciliary Dyskinesia (PCD) is a rare genetic disorder characterized by alterations in motile cilia function. The diagnosis of PCD is challenging due to the lack of standardized methods in clinical practice. High-speed video microscopy analysis (HSVA) directly evaluates ciliary beat frequency (CBF) in PCD.

Advancing Primary Ciliary Dyskinesia Diagnosis through High-Speed Video Microscopy Analysis.

Primary ciliary dyskinesia (PCD) is an inherited disorder that impairs motile cilia, essential for respiratory health, with a reported prevalence of 1 in 16,309 within Hispanic populations. Despite 70% of Puerto Rican patients having the [c.921+3_921+6del (intronic)] founder mutation, the characterization of the ciliary dysfunction remains unidentified due to the unavailability of advanced diagnostic modalities like High-Speed Video Microscopy Analysis (HSVA).

Evaluation of negative binomial and zero-inflated negative binomial models for the analysis of zero-inflated count data: application to the telemedicine for children with medical complexity trial.

Background: Two characteristics of commonly used outcomes in medical research are zero inflation and non-negative integers; examples include the number of hospital admissions or emergency department visits, where the majority of patients will have zero counts. Zero-inflated regression models were devised to analyze this type of data. However, the performance of zero-inflated regression models or the properties of data best suited for these analyses have not been thoroughly investigated.

Pulmonary outcomes of congenital diaphragmatic hernia patients based on defect size (CDH Study Group Stage).

Background: Congenital diaphragmatic hernia (CDH) is associated with significant pulmonary morbidity. Previous investigation has shown that postnatal inpatient morbidity is linked to diaphragmatic defect size. The objective of this study was to evaluate long-term pulmonary outcomes by CDH study group defect size.

Bronchiectasis Assessment in Primary Ciliary Dyskinesia: A Non-Invasive Approach Using Forced Oscillation Technique.

Primary ciliary dyskinesia (PCD) is an autosomal recessive disorder that results from the dysfunction of motile cilia, which can cause chronic upper and lower respiratory infections leading to bronchiectasis. However, there is a need for additional tools to monitor the progression of bronchiectasis in PCD. The forced oscillation technique (FOT) is an effort-independent lung function test that can be used to evaluate respiratory mechanics.

Screening for asthma in preschool children with sickle cell disease.

Background: Asthma in preschool children is poorly defined, proving to be a challenge for early detection. The Breathmobile Case Identification Survey (BCIS) has been shown to be a feasible screening tool in older SCD children and could be effective in younger children. We attempted to validate the BCIS as an asthma screening tool in preschool children with SCD.

The Gene in Primary Ciliary Dyskinesia.

The radial spoke head protein 4 homolog A () gene is one of more than 50 genes that cause Primary ciliary dyskinesia (PCD), a rare genetic ciliopathy. Genetic mutations in the gene alter an important protein structure involved in ciliary pathogenesis. Radial spoke proteins, such as RSPH4A, have been conserved across multiple species.

Nasal Nitric Oxide Levels: Improving the Diagnosis of Primary Ciliary Dyskinesia in Puerto Rico.

Primary Ciliary Dyskinesia (PCD) is a rare genetic disease characterized by motile cilia dysfunction with a prevalence of 1 in 16,309 individuals in Hispanic populations. In Puerto Rico, the prevalence of PCD is unknown. Diagnosis of PCD in Puerto Rico is challenging due to the lack of diagnostic technology.

The Genetics of Primary Ciliary Dyskinesia in Puerto Rico.

Primary ciliary dyskinesia (PCD) has been linked to more than 50 genes that cause a spectrum of clinical symptoms, including newborn respiratory distress, sinopulmonary infections, and laterality abnormalities. Although the (c.921+3_6delAAGT) pathogenic variant has been related to Hispanic groups with Puerto Rican ancestry, it is uncertain how frequently other PCD-implicated genes are present on the island.

Hydrocortisone to Improve Survival without Bronchopulmonary Dysplasia.

Background: Bronchopulmonary dysplasia is a prevalent complication after extremely preterm birth. Inflammation with mechanical ventilation may contribute to its development. Whether hydrocortisone treatment after the second postnatal week can improve survival without bronchopulmonary dysplasia and without adverse neurodevelopmental effects is unknown.

Primary Ciliary Dyskinesia: Ancestral Haplotypes Analysis of the RSPH4A Founder Mutation in Puerto Rico.

Genetic mutations in >50 genes, including can lead to primary ciliary dyskinesia (PCD). mutations affect radial spokes, which alter the configuration of the ciliary ultrastructure and lead to chronic oto-sinopulmonary disease. The  [c.

Telemedicine for Children With Medical Complexity: A Randomized Clinical Trial.

Background: Telemedicine is widely used but has uncertain value. We assessed telemedicine to further improve outcomes and reduce costs of comprehensive care (CC) for medically complex children.

Methods: We conducted a single-center randomized clinical trial comparing telemedicine with CC relative to CC alone for medically complex children in reducing care days outside the home (clinic, emergency department, or hospital; primary outcome), rate of children developing serious illnesses (causing death, ICU admission, or hospital stay >7 days), and health system costs.

Intravenous immunoglobulin as adjuvant therapy for COVID-19: A case report and literature review.

Severe acute respiratory syndrome coronavirus 2 has infected and caused the death of an alarming number of individuals worldwide. No specific treatment has been internationally standardized for coronavirus disease 2019 (COVID-19); however, in some cases, intravenous immunoglobulin (IVIG) has been used as adjuvant treatment in critically ill patients with COVID-19 pneumonia. We report a case of a 50-year-old man with severe COVID-19 pneumonia who received 5 days course of IVIG as adjuvant therapy.

Primary Ciliary Dyskinesia Diagnostic Challenges: Understanding the Clinical Phenotype of the Puerto Rican Founder Mutation.

Primary ciliary dyskinesia (PCD) is a rare, heterogeneous ciliopathy resulting in chronic oto-sino-pulmonary disease, bronchiectasis, newborn respiratory distress, and laterality defects. PCD diagnosis can be achieved by following diagnostic algorithms that include electron microscopy, genetics, and ancillary testing. Genetic mutations in more than 45 genes, including , can lead to PCD.

First Characterization of the Formation of Anthocyanin-Ge and Anthocyanin-B Complexes through UV-Vis Spectroscopy and Density Functional Theory Quantum Chemical Calculations.

The occurrence of anthocyanin (ACN) and metal (Me) complexes has been widely supported by many research works while the possibility that ACNs bind to metalloids (Mds) is yet to be proven. Here, metalloids (HBO for B; GeO for Ge) were added to cyanidin-based solutions at pH 5, 6, and 7 and ACN-Md stoichiometric ratios of 1:1, 1:10, 1:100, and 1:500, and UV-vis transmittance spectroscopy as well as density functional theory (DFT) calculations were performed to test this hypothesis. Ge and B addition caused bathochromic and hyperchromic shifts on ACN UV-vis spectra, particularly pronounced at pH 5 and a 1:500 (ACN:Md) ratio.

Hospital Consultation From Outpatient Clinicians for Medically Complex Children: A Randomized Clinical Trial.

Importance: Children with medical complexity (CMC) frequently experience fragmented care. We have demonstrated that outpatient comprehensive care (CC) reduces serious illnesses, hospitalizations, and costs for high-risk CMC. Yet continuity of care for CMC is often disrupted with emergency department (ED) visits and hospitalizations.

Cardiac arrhythmias associated with volume-assured pressure support mode in a patient with autonomic dysfunction and mitochondrial disease.

A 15-year-old boy with autonomic dysfunction and mitochondrial disease was diagnosed with sleep-related hypoventilation at 6 years of age and treated with bilevel positive airway pressure therapy. At 12 years of age, treatment was transitioned to volume-assured pressure support (VAPS) due to clinical evidence of respiratory muscle weakness. Subsequent titration polysomnogram revealed the emergence of cardiac arrhythmia (isolated premature ventricular contractions, bigeminy, and trigeminy) while on VAPS mode that improved after transition to bilevel positive airway pressure therapy.