(1) EN: This study assessed exome sequencing in 27 Brazilian children with suspected primary ciliary dyskinesia (PCD), achieving a 37% molecular diagnostic yield (10 confirmed, 6 likely).

(1) EN: This study established conditionally reprogrammed cell (CRC) technology for primary ciliary dyskinesia (PCD)-derived nasal epithelial cells, achieving >90% expansion success and overcoming the low cell yield from brushings.

(1) EN: This first Italian multicenter study prospectively followed 82 children and young adults with Primary Ciliary Dyskinesia (PCD) for 12 months, using quarterly sputum cultures.

(1) EN: The BEAT-PCD consensus established the first core outcome set for PCD pulmonary trials by using a three-round e-Delphi with 24 experts from 17 countries.

(1) EN: The ERN-LUNG registry study analyzed 1,236 genetically confirmed PCD individuals from 19 countries, the largest such cohort to date. It identified 908 pathogenic variants across 46 genes, including distinct regional founder variants (e.g., SPAG1 c.2014C>T in Slavic countries).

(1) EN: Delayed COVID-19 vaccination in Brazil cost lives. A conservative counterfactual study estimates that vaccines prevented about 168,000 hospitalizations and 59,000 deaths among adults 60 and older from January to August 2021.

(1) EN: This multicenter Spanish study validated a 44-gene massive sequencing panel in 79 patients with suspected primary ciliary dyskinesia (PCD).

(1) EN: The history of Primary Ciliary Dyskinesia (PCD) spans from Siewert's 1904 clinical description and Kartagener's 1933 triad to Afzelius's 1976 ultrastructural discovery of dynein arm defects.

(1) EN: Primary Ciliary Dyskinesia (PCD) is a rare genetic disorder in which defective motile cilia impair mucus clearance, leading to neonatal respiratory distress, chronic sinopulmonary infections, bronchiectasis, and laterality defects in about half of patients.

(1) EN: This study assessed 417 CFTR variants for response to Vanzacaftor/Tezacaftor/Ivacaftor (VTI). Results showed that ~76% responded, including 50 variants previously non- or borderline-responsive to ETI.

(1) EN: This study assessed 655 CFTR variants across three independent labs for response to ELX/TEZ/IVA (ETI). Results showed that 83% responded to treatment, including 152 unapproved variants with <10% baseline function that improved by ≥10%, the FDA threshold predictive of clinical benefit.

(1) EN: On October 18, we celebrate Doctors' Day in Brazil! These professionals dedicate their lives to caring for and healing others. From sleepless nights to life-saving moments, their kindness and hard work mean the world to us.

(1) EN: The FDA's 2017 expansion of the ivacaftor label marked a groundbreaking step; it approved the drug for rare CFTR variants based on in vitro cell data rather than clinical trials.

(1) EN: Today we celebrate Brazilian National Science and Technology Day! It's time to recognize scientists, researchers, and innovators who transform knowledge into progress for our nation.

(1) EN: Theratyping and theranostics are complementary tools that can bridge the gap between genotype and effective therapy. Theratyping classifies CFTR variants by drug responsiveness using cell lines, informing regulatory decisions.

(1) EN: Yesterday was World Spirometry Day, and today is World Chronic Cough Day... Spirometry helps show how well your lungs are working, making it an important tool for diagnosis and follow-up.

(1) EN: Research and teaching go side-by-side. In the lab, we learn to ask questions, experiment, and view failure as part of the process. In the classroom, those same skills become some of our greatest tools.

(1) EN: Precision medicine is essential for cystic fibrosis (CF) because CFTR gene variants are highly heterogeneous. More than 2,100 variants exist, each producing distinct molecular defects, and they have traditionally been grouped into six functional classes.

(1) EN: On October 13, we celebrate Brazilian Physical and Occupational Therapists! These caring professionals help millions regain movement, independence, and confidence.

(1) EN: Elexacaftor/tezacaftor/ivacaftor (ETI) and vanzacaftor/tezacaftor/deutivacaftor (VTD) are the two most effective CFTR modulator combinations to date. Both pair two correctors with complementary mechanisms and one potentiator, producing synergistic rescue of F508del-CFTR folding and function.

(1) EN: Elexacaftor and Vanzacaftor are dual-function CFTR modulators that act as both correctors and weak co-potentiators. They bind to a unique pocket formed by TM2, TM10, TM11, and the lasso motif, distinct from the binding sites of Tezacaftor and Ivacaftor.

(1) EN: Lumacaftor and Tezacaftor are CFTR correctors with similar chemical structures that bind the same pocket in TMD1. By stabilizing F508del-CFTR folding, they promote the protein's exit from the endoplasmic reticulum and its trafficking to the cell surface.

(1) EN: World Mental Health Day 2026 (October 10) calls for "Lived experiences heard: real voices, real change." Mental and respiratory health are closely connected. People living with severe mental illness face significantly higher risks of COPD and asthma.

(1) EN: Yesterday (Oct 9) marked Lung Transplant Awareness Day 2026, honoring every step of the journey, from the waitlist to life after transplant. It brings together patients, caregivers, donors, and healthcare professionals who make this life-saving procedure possible.

(1) EN: Ivacaftor is a potentiator that binds directly to CFTR protein at cell surface, increasing channel open probability and thereby enhancing chloride transport. It was identified by high-throughput screening for the G551D variant and later evaluated in other gating and conductance variants.

(1) EN: CFTR modulators have transformed care for people with Cystic Fibrosis (CF). Using high-throughput screening, researchers identified small-molecule correctors and potentiators that target specific defects in CF-causing variants.

(1) EN: Precision medicine is transforming respiratory care by making it more personalized, moving beyond broad disease labels to understand patients through biomarkers, endotypes, and treatable traits.

(1) EN: October is Primary Ciliary Dyskinesia (PCD) Awareness Month. PCD is a rare genetic condition in which cilia don’t beat properly, often leading to chronic lung infections, bronchiectasis, and, in some cases, situs inversus. Because testing is limited, diagnosis can take a long time.

(1) EN: Coffee may support your lung health more than you might expect. A dose-response study found that caffeine in coffee acts as a mild bronchodilator, improving FEV1 in people with asthma, though it is only about 40% as potent as theophylline.

(1) EN: Coffee breaks are more than downtime; they are welcoming spaces for scientific exchange. In the lab, isolation can breed stagnation; over coffee, failures, early-stage ideas, and doubts become shared puzzles to explore together.