Pediatr Int. 2025 Jan-Dec;67(1):e15882. doi: 10.1111/ped.15882.

NO ABSTRACT

PMID:39911093 | DOI:10.1111/ped.15882

Curr Microbiol. 2025 Feb 5;82(3):118. doi: 10.1007/s00284-025-04091-7.

ABSTRACT

Cyclic dimeric guanosine monophosphate (c-di-GMP) plays a vital role within the nucleotide signaling network of bacteria, participating in various biological processes such as biofilm formation and toxin production, among others. Substantial evidence demonstrates its critical involvement in the progression of chronic infections. Treating chronic infections seems critical, and there is a worldwide quest for drugs that target pathogens' unique and complex virulence-associated signaling networks. c-di-GMP is a promising therapeutic target by serving as a distinct virulence factor, solving problems associated with drug resistance, biofilm dispersion, and its related septicemia complications. c-di-GMP levels act as checkpoints for several biofilm-associated molecular pathways, viz., Gac/Rsm, BrlR, and SagS signaling systems. C-di-GMP is also engaged in the Wsp chemosensory pathway responsible for rugose small colony variants observed in cystic fibrosis-related lung infections. Considering all factors, c-di-GMP serves as a pivotal hub in the intricate cascade of biofilm regulation. By overseeing QS systems, exopolysaccharide synthesis, and antibiotic resistance pathways in chronic infections, it emerges as a linchpin for effective drug development strategies against biofilm-related ailments. This underscores the significance of understanding the multifaceted signaling networks. c-di-GMP's role is highlighted in this review as a concealed virulence component in various bacterial pathogens, suggesting that medications targeting it could hold promise in treating chronic disorders associated with biofilms.

PMID:39909925 | DOI:10.1007/s00284-025-04091-7

J Cyst Fibros. 2025 Feb 5:S1569-1993(25)00051-7. doi: 10.1016/j.jcf.2025.02.002. Online ahead of print.

ABSTRACT

OBJECTIVE: Access to highly effective modulator therapies (HEMT) in resource-limited countries is limited by prohibitive cost and restrictive patents. We report the clinical outcomes of a cost-reduction strategy in South Africa (SA), where generic elexacaftor/tezacaftor/ivacaftor (gETI) was pharmacokinetically enhanced with clarithromycin (gETI/c) for people with CF (pwCF) eligible for HEMT.

METHODS: A multi-center observational study from December 2021 to May 2024. Analysis of variance (ANOVA) and linear mixed effects analyses were conducted to describe and compare change in sweat chloride (SC), FEV1pp, BMI (m/kg2) and adverse events (AE) over 18-months follow-up for different gETI dose categories: a) standard, full or b) modulator sparing dose (gETI/c at 25-50 % recommended dose, twice/thrice weekly).

RESULTS: 70/413 (17 %) eligible pwCF [median age 27 years (range 6-52); 68 (97 %) with ≥ one copy F508del] received gETI with standard (n = 38) or modulator-sparing doses (n = 32); 29 changed dosing regimens across the study period. The overall mean (SD) reduction in SC after 1-month of treatment was -52.9 (16.9) mmol/L (p < 0.001), with no evidence of difference between dose groups (p = 0.2). Overall mean (SD) FEV1pp and BMI increased at 1-month by 14.9 (95 % CI 11.49-18.40) and 0.84 (95 % CI 0.16-1.49), respectively. Improvements in FEV1pp and BMI were sustained throughout follow-up, with no evidence of difference between dosing groups. No serious AEs were reported.

CONCLUSION: Our experience with gETI is similar to real-world reports using the originator product. Boosting ETI with CYP3A-inhibitors is a safe and effective strategy to increase access to ETI in settings where access to HEMT is restricted.

PMID:39909761 | DOI:10.1016/j.jcf.2025.02.002

Microbiol Spectr. 2025 Feb 5:e0301024. doi: 10.1128/spectrum.03010-24. Online ahead of print.

ABSTRACT

Pseudomonas aeruginosa is a bacterial pathogen that is a major cause of lung infections in cystic fibrosis (CF) and other patients. Isolates of P. aeruginosa from CF patients commonly carry filamentous phages (Pf phages), which constitute a family of temperate phages known to be related to biofilm production and antibiotic sequestration. In this study, we identified 12 new Pf phage genomes in a collection of clinical isolates of P. aeruginosa from CF patients. Study of the anti-phage defense systems in the bacterial isolates revealed the presence of 89 such systems, of which eight were encoded in the Pf phage genomes. Finally, although a weak relation between resistance to phage infection and the number of anti-phage defense systems was detected, it was observed that the phage resistance was related to the presence of Pf phages and the anti-phage defense systems encoded in these phages.IMPORTANCEBacteria harbor a wide range of defense mechanisms to avoid phage infections that hamper the application of phage therapy because they can lead to the rapid acquisition of phage resistance. In this study, eight anti-phage defense systems were found in the genome of 12 Pf phages that were presents in 56% of the CF isolates of P. aeruginosa. The high prevalence of these phages underlines the importance of our findings about newly discovered filamentous phages and the role of these phages in resistance to phage infections. Thus, the knowledge of the anti-defense system in the Pf phage genomes could be useful in assessing the possible application of phage therapy to treat an infectious disease.

PMID:39907445 | DOI:10.1128/spectrum.03010-24

Respir Investig. 2025 Feb 3;63(2):224-225. doi: 10.1016/j.resinv.2025.01.002. Online ahead of print.

NO ABSTRACT

PMID:39904248 | DOI:10.1016/j.resinv.2025.01.002

PLoS Pathog. 2025 Feb 4;21(2):e1012784. doi: 10.1371/journal.ppat.1012784. Online ahead of print.

ABSTRACT

Aspergillus fumigatus (Af) is a major mould pathogen found ubiquitously in the air. It commonly infects the airways of people with cystic fibrosis (CF) leading to Aspergillus bronchitis or allergic bronchopulmonary aspergillosis. Resident alveolar macrophages and recruited neutrophils are important first lines of defence for clearance of Af in the lung. However, their contribution to the inflammatory phenotype in CF during Af infection is not well understood. Here, utilising CFTR deficient mice we describe a hyperinflammatory phenotype in both acute and allergic murine models of pulmonary aspergillosis. We show that during aspergillosis, CFTR deficiency leads to increased alveolar macrophage death and persistent inflammation of the airways in CF, accompanied by impaired fungal control. Utilising CFTR deficient murine cells and primary human CF cells we show that at a cellular level there is increased activation of NFκB and NFAT in response to Af which, as in in vivo models, is associated with increased cell death and reduced fungal control. Taken together, these studies indicate that CFTR deficiency promotes increased activation of inflammatory pathways, the induction of macrophage cell death and reduced fungal control contributing to the hyper-inflammatory of pulmonary aspergillosis phenotypes in CF.

PMID:39903773 | DOI:10.1371/journal.ppat.1012784

Pediatr Pulmonol. 2024 Jun;59(6):1661-1676. doi: 10.1002/ppul.26970. Epub 2024 Apr 12.

ABSTRACT

BACKGROUND: Cystic fibrosis (CF) is a life-shortening multisystem genetic disease. Although progressive pulmonary disease is the predominant cause of morbidity and mortality, improvements in treatment for CF-related lung disease, with associated increase in longevity, have increased the prevalence of extrapulmonary manifestations1.

METHODS: To discuss these issues, a multidisciplinary meeting of international leaders and experts in the field was convened in November 2021 at the Shaping Initiatives and Future Trends Symposium with the goal of highlighting shifting management paradigms in CF. The main topics covered were: (1) nutrition and obesity, (2) exocrine pancreas, (3) CF-related diabetes, (4) CF liver disease, (5) CF-related bone disease, and (6) post-lung transplant care. This document summarizes the proceedings, highlighting the key priorities and important research questions that were discussed.

RESULTS: Improved life expectancy, the advent of cystic fibrosis transmembrane conductance regulator modulators, and the increasing appreciation of the heterogeneity or spectrum of disease are leading to a shift in management for patients with cystic fibrosis. Care should be individualized to ensure that increased longevity is accompanied by improved extra-pulmonary care and reduced morbidity.

PMID:39903130 | DOI:10.1002/ppul.26970

Health Qual Life Outcomes. 2025 Feb 4;23(1):10. doi: 10.1186/s12955-025-02338-2.

ABSTRACT

BACKGROUND: Measuring the quality of life in patients with cystic fibrosis is important, both in terms of assessing the implementation of new therapies and monitoring their effects, as well as the ongoing evaluation of patients' condition. The objective of this study is to present tools for measuring the quality of life in adult patients with cystic fibrosis, along with their characteristics and measurement properties.

METHODS: The systematic review was performed according to the PRISMA guidelines based on a previously prepared research protocol (PROSPERO: CRD42023491030). Searches were performed in Medline (via PubMed), Embase (via OVID), and Cochrane Library databases. In addition, manual searches of bibliographies from the studies included in the analysis and grey literature were performed. Quality assessment of the included studies was performed according to the guidelines of COnsensus-based Standards for the selection of health Measurement INstruments (COSMIN).

RESULTS: The systematic search identified 3,359 studies, of which 26 met the inclusion criteria for the analysis. Two publications were additionally included as a result of the manual search. A total of 16 tools for measuring the quality of life in adults with cystic fibrosis were identified, the measurement properties of which were presented in the included studies. Among these tools, the Cystic Fibrosis Questionnaire-Revised (CFQ-R) and the Cystic Fibrosis Quality of Life Questionnaire (CFQoL) were most frequently analyzed. There were also other new, promising tools.

CONCLUSION: Most studies reported acceptable measurement properties of tools used to measure quality of life in adult patients with cystic fibrosis. In many cases, however, significant limitations were observed related to the lack of comprehensive analysis of the factor structure and other aspects related to validation and responsiveness. There have also been problems with the reliability of some tool scales (including the CFQ-R 14+). The small number of studies makes it difficult to present clear conclusions regarding the usefulness of existing tools. In turn, new tools that may be used in economic analyses (CFQ-R-8 dimensions) or in individualized assessment of quality of life using a mobile application (Q-Life) seem promising. However, further research on large patient populations is necessary to analyze the measurement properties of all tools.

PMID:39901267 | DOI:10.1186/s12955-025-02338-2

BMC Nurs. 2025 Feb 3;24(1):127. doi: 10.1186/s12912-025-02774-x.

ABSTRACT

BACKGROUND: Cystic Fibrosis (CF) significantly affects the respiratory system, often requiring lung transplantation in advanced stages. This life-saving procedure presents substantial challenges and uncertainties. While there is existing research on support and information needs post-lung transplant from various perspectives, this study aims to specifically address the unique experiences and challenges faced by individuals with CF during both the pre-transplant and post-transplant periods.

METHODS: Twenty-three lung-transplanted individuals with CF participated in this exploratory qualitative study. Data was collected through individual semi-structured interviews and analyzed using inductive content analysis.

RESULTS: Participants faced physical and mental challenges, including fatigue, depression, and anxiety. The waiting period involved isolation, dependence on family, and guilt. Post-transplant, they dealt with relief but also severe pain and adjusted to a new identity. Participants highlighted the importance of taking immunosuppressive medications as prescribed, even though the regimen was complicated and these medications had side effects. Participants stressed the need for earlier and more open dialogue with healthcare professionals and better emotional preparation for the transplant process, including preparedness for pain and previously inadequately addressed concerns such as depression and anxiety.

CONCLUSIONS: This study underscores the significant physical and emotional challenges individuals with CF face during lung transplantation, highlighting the need for comprehensive, person-centered care. Psychological support, effective post-transplant pain management, and early palliative care may be beneficial approaches to improve the patient experience. Nurses can play a pivotal role in this process by ensuring clear communication, managing pain, educating patients on immunosuppressive regimens, and advocating for holistic care.

PMID:39901222 | DOI:10.1186/s12912-025-02774-x

Semin Respir Crit Care Med. 2025 Feb 3. doi: 10.1055/a-2531-1018. Online ahead of print.

ABSTRACT

Sleep disorders that involve circadian rhythm disruption and sleep-disordered breathing (SDB) such as obstructive sleep apnea (OSA) are closely linked to respiratory infections. SDB leads to a proinflammatory state due to intermittent hypoxia, sleep fragmentation, increased oxidative stress, and elevation of inflammatory mediators such as tumor necrosis factor (TNF), interleukin-6 (IL-6), and C-reactive protein (CRP). Furthermore, inflammatory mediator levels correlate with SDB severity, especially in people with OSA. Nocturnal microaspiration, gastroesophageal reflux, and associated comorbidities (e.g. obesity) increase the risk of community-acquired pneumonia, viral infections such as SARS-CoV-2, respiratory complications, and death. OSA has been associated with post-COVID syndrome. It also increases the risk of postoperative complications in both adults and children. Circadian rhythm disorders such as insomnia predispose to immune disorders and increase the risk of infection. Chronic conditions such as bronchiectasis, with or without concomitant cystic fibrosis, can lead to structural sleep changes and increase the risk of OSA due to chronic cough, arousals, aspirations, hypoxia, upper airway edema, and overexpression of proinflammatory cytokines. The protective effect of treatment for sleep disorders against respiratory infection is currently unknown. However, in people presenting with respiratory infection, it is important to test for SDB to prevent complications.

PMID:39900109 | DOI:10.1055/a-2531-1018

Int J Qual Health Care. 2025 Feb 3:mzaf015. doi: 10.1093/intqhc/mzaf015. Online ahead of print.

ABSTRACT

BACKGROUND: Medications are a major cause of harm to patients in hospitals, and several studies have found that they cause approximately 20% of injuries that occur in medical institutions. It was found that the rate of adverse drug events (ADEs) in pediatric hospitalizations ranges from 11 to 40 events per 100 hospitalizations and 1% of cases caused death.Objectives: This is a comparative and retrospective study. The overarching objective is to adapt the Pediatric Trigger Tool (PTT) of the 'Child Health Corporation of America' to pediatric wards in Israel, with the intention of using it to assess the rate of adverse events that occur during medication given in pediatric wards. The study characterized ADEs and examined the ability of the PTT to identify ADEs in relation to those that were voluntarily reported by the staff.

METHOD: This study included internal and surgical pediatric wards at an academic pediatric medical center. The PTT was validated on medical record data from 700 hospitalizations between the years 2015 - 2017. The study also determined, among other things: the stage of drug administration at which the events occurred, the percentage of all events that could have been prevented, the degrees of damage the ADE caused and more.

RESULTS: The Positive Predictive Value (PPV) of the customized tool stands at 16.91%.The study found 108 ADEs in 78 hospitalizations. The ADE rate per 100 hospitalizations was 15.4, the ADE rate per 1,000 drug doses was 3.9, and the ADE rate per 1,000 hospitalization days was 22.8, of which 18.5% were preventable. The category of drugs that led to the highest number of ADEs was painkillers. Those ADEs led to a large number of adverse clinical effects: constipation, hypokalemia, vomiting, and rash. The most common reason for coming to the hospital was suspicion or treatment of a hematologic disease, followed by hospitalization due to a burn. The customized tool found 10.8 times more ADEs than those reported voluntarily-subjectively by the clinicalstaff.

CONCLUSIONS: The study found that, properly adapted, the PTT tool can be used to detectADEs in internal and surgical pediatric wards.

PMID:39898918 | DOI:10.1093/intqhc/mzaf015

Pediatr Pulmonol. 2025 Feb;60(2):e27491. doi: 10.1002/ppul.27491.

ABSTRACT

INTRODUCTION: The Cystic Fibrosis (CF) Foundation guideline for the treatment of pulmonary exacerbations (PEx) does not address empiric antibiotic selection. The primary objective of this study is to characterize how patient-specific microbiological histories are utilized in initial antibiotic selection for CF-related PEx at a pediatric institution. The secondary outcome was to characterize why changes were made to empiric antibiotic regimens.

METHODS: This single-center, retrospective study evaluated individuals aged 1-21 years hospitalized for CF-related PEx at Children's Medical Center Dallas between August 1, 2016 and July 31, 2018.

RESULTS: Among 285 screened hospital encounters, 156 encounters met inclusion criteria. Median age was 12.9 years with a median baseline forced expiratory volume (FEV1) of 84% predicted. Staphylococcus aureus, Pseudomonas aeruginosa, and Stenotrophomonas maltophilia were the organisms most targeted by empiric antibiotics with median months since last growth of 1.5, 9.2, and 5.5, respectively. A difference was observed in median time since last growth for targeted organisms versus those not targeted by the initial antibiotics, but wide overlapping timeframes were noted. Organisms isolated on admission cultures were sensitive to the initial antibiotics regimen in 78.2% of encounters.

CONCLUSION: While variable, patient-specific microbiologic history and time since last growth of historical organisms are taken into consideration when selecting initial antibiotics for the treatment of PEx in children with CF. Expanding initial antibiotic coverage to target microbiological growth histories beyond 1 year prior to a hospital admission did not appear to increase the likelihood of providing coverage for organism(s) isolated on the admission sputum culture in children hospitalized for CF-related PEx.

PMID:39898731 | DOI:10.1002/ppul.27491

Pediatr Pulmonol. 2025 Feb;60(2):e27506. doi: 10.1002/ppul.27506.

ABSTRACT

BACKGROUND: CF R.I.S.E is a program that helps people with Cystic Fibrosis (pwCF) transition from pediatric to adult care. In 2022, we adapted it to CF S.O.B.E in Turkish during a training session. This project aims to present the results of the CF S.O.B.E program.

METHODS: This study included 81 pwCF aged 16-25, divided into two groups: the standard CF S.O.B.E. group (n = 39) and the modified group (n = 42). The standard group received face-to-face education. Both groups participated in online training sessions and received written materials. The knowledge levels were evaluated with Knowledge Assessment Questionnaires (KAQ).

RESULTS: The standard group showed higher post-training scores in "Lung Health and Airway Clearance" and "Equipment Maintenance and Infection Control" (p = 0.014 and 0.002). Modified group showed improvements in all KAQs except "Lung Health and Airway Clearance", "CF-related Liver Disease," "Pancreatic Insufficiency and Nutrition," and "Male Sexual Health." Regarding Pancreatic Insufficiency & Nutrition and CF-related Diabetes, individuals with these conditions demonstrated higher pretest scores than those without these conditions (p = 0.01 and 0.002, respectively). Both groups and their parents reported high satisfaction, and healthcare providers endorsed the program's effectiveness.

CONCLUSION: Our study demonstrated the CF S.O.B.E program's success in enhancing knowledge, disease management skills, and self-confidence among pwCF. While the modified CF S.O.B.E program may be suitable for resource-limited centers, the priority should be to implement the standard program due to its superior outcomes in self-confidence and disease management. This study lays the foundation for incorporating CF S.O.B.E as a standard practice and evaluating its long-term clinical impact.

PMID:39898696 | DOI:10.1002/ppul.27506

Pediatr Pulmonol. 2025 Feb;60(2):e27510. doi: 10.1002/ppul.27510.

NO ABSTRACT

PMID:39898620 | DOI:10.1002/ppul.27510

Pediatr Pulmonol. 2025 Feb;60(2):e27504. doi: 10.1002/ppul.27504.

NO ABSTRACT

PMID:39898600 | DOI:10.1002/ppul.27504

AACE Clin Case Rep. 2024 Oct 4;11(1):32-35. doi: 10.1016/j.aace.2024.09.008. eCollection 2025 Jan-Feb.

ABSTRACT

BACKGROUND/OBJECTIVE: Men with cystic fibrosis (CF) have a high prevalence of low testosterone levels. A recent retrospective study demonstrated a quarter of a cohort of men with CF had serum testosterone levels below 300 ng/dL. The evaluation of hypogonadism is of increasing clinical importance in order to prevent unfavorable outcomes. Herein we present a 31-year-old man with CF and a relatively low serum testosterone value who was found to have an additional unsuspected cause of male hypogonadism.

CASE REPORT: The patient was a 31-year-old man with history of CF who was referred to endocrinology clinic for the evaluation of hypogonadism. Serum testing revealed a total testosterone of 175 ng/mL (296-1377), luteinizing hormone 2.8 mIU/mL (1.2-8.6), and a prolactin of 341 ng/mL (3-13). A brain magnetic resonance imaging was obtained, which revealed a 1 cm hypoenhancing left sellar lesion. He was started on cabergoline. His testosterone increased to 707 ng/dL after a year on cabergoline treatment. His prolactin decreased to 12 ng/mL after a year of treatment. The pituitary adenoma decreased 50% in size 2 years after cabergoline was initiated.

DISCUSSION: The most common etiologies of CF are recurrent infections, chronic inflammation, and glucocorticoid administration, which lead to both hypothalamic-pituitary dysregulation and primary hypogonadism. However, other less common causes of hypogonadism can also be found in CF.

CONCLUSION: We suggest that all men with cystic fibrosis found to have hypogonadism undergo additional evaluation for causes of hypogonadism prior to treatment with testosterone.

PMID:39896950 | PMC:PMC11784604 | DOI:10.1016/j.aace.2024.09.008

OTO Open. 2025 Jan 31;9(1):e70084. doi: 10.1002/oto2.70084. eCollection 2025 Jan-Mar.

ABSTRACT

OBJECTIVE: Individuals with primary ciliary dyskinesia (PCD) frequently report olfactory dysfunction, yet this deficit is poorly documented. The purpose of this study was to characterize the presence and degree of olfactory dysfunction in PCD compared to controls and determine whether certain PCD genes are associated with worse olfaction.

STUDY DESIGN: A prospective cohort study.

SETTING: Tertiary referral center.

METHODS: We administered the University of Pennsylvania Smell Identification Test (UPSIT) to individuals with PCD. Participants were divided into 3 age groups (15-29 years, 30-44 years, and 45+ years) and compared to age- and sex-matched normal controls (n = 2170).

RESULTS: Twenty-nine individuals with PCD (8 males and 21 females) met the criteria (median age: 38 years; interquartile range: 22-47). Only 27.6% of patients with PCD had UPSIT scores within the normosmia range. The UPSIT median scores of each PCD age group were significantly lower than the median scores of the controls (P < .0001 for each age group). UPSIT scores generally worsened with age: mean 33 (mild hyposmia) for 15 to 29 years, 26.8 (moderate hyposmia) for 30 to 44 years, and 20.9 (severe hyposmia) for 45+ years. The most common genes coded were absent inner dynein arm/microtubule disorientation (IDA/MTD) defect (11/24, 45.8%), followed by absent outer dynein arm defect (8/24, 33.3%). The CCDC39 gene (IDA/MTD) was associated with worse olfactory dysfunction.

CONCLUSION: Individuals with PCD have a substantially higher prevalence and degree of olfactory dysfunction compared to age-matched controls. Our study is the first to report greater olfactory dysfunction with age in PCD patients, highlighting an important area for research.

PMID:39896853 | PMC:PMC11783683 | DOI:10.1002/oto2.70084

bioRxiv [Preprint]. 2025 Jan 26:2025.01.24.634776. doi: 10.1101/2025.01.24.634776.

ABSTRACT

Modulator agents that restore cystic fibrosis transmembrane conductance regulator (CFTR) function have revolutionized outcomes in cystic fibrosis, an incurable multisystem disease. Barriers exist to modulator use, making local CFTR gene and cell therapies attractive, especially in the respiratory tract. We used CRISPR to gene-correct CFTR in upper airway basal stem cells (UABCs) and show durable local engraftment into recipient murine respiratory epithelium. Interestingly, the human cells recapitulate the in vivo organization and differentiation of human sinus epithelium, with little expansion or contraction of the engrafted population over time, while retaining expression of the CFTR transgene. Our results indicate that human airway stem cell transplantation with locoregional restoration of CFTR function is a feasible approach for treating CF and potentially other diseases of the respiratory tract.

PMID:39896581 | PMC:PMC11785248 | DOI:10.1101/2025.01.24.634776

Respir Med. 2025 Jan 31:107980. doi: 10.1016/j.rmed.2025.107980. Online ahead of print.

ABSTRACT

BACKGROUND: Patients with cystic fibrosis (CF) use inhaled medicines daily due to respiratory manifestations. However, only 31% of users is inhaling correctly. Digital solutions targeting inhalation could help CF patients improve their technique and thus health outcomes. However, the use of electronic monitoring devices shows a decrease over time. Therefore, the aim of study was to investigate CF patients' preferences for the use of electronic devices on their inhalation technique on a regular basis and reasons behind these preferences.

METHODS: Semistructured interviews were conducted with 11 CF patients from four European countries to understand their disease history and experiences, daily use of inhaler medication, experiences with digital devices to achieve disease control, and expectations of new devices for monitoring inhalation. A conventional content analysis was applied.

RESULTS: CF patients knew their body well due to their lifelong experiences. However, some patients still experienced periods with more symptoms and need for support. Non-app support was preferred. CF patients reported that digital systems should provide high benefits for regular use. Patients differed in their interest in digital systems for inhalation. Such systems were mostly relevant to CF patients starting a new inhaled treatment/inhaler device or during periods in which the disease was out of control.

CONCLUSIONS: CF patients perceived limited value of digital systems to monitor their inhalation and mostly considered them necessary for specific periods. Extensive experience in using inhalers and existing daily routines to manage a high treatment burden appear involved in limited need of such systems.

PMID:39894083 | DOI:10.1016/j.rmed.2025.107980

STAR Protoc. 2025 Jan 31;6(1):103593. doi: 10.1016/j.xpro.2024.103593. Online ahead of print.

ABSTRACT

Here, we present a protocol for the rapid functional screening of gene editing and addition strategies in patient-derived organoids using the deep-learning-based tool DETECTOR (detection of targeted editing of cystic fibrosis transmembrane conductance regulator [CFTR] in organoids). We describe steps for wet-lab experiments, image acquisition, and CFTR function analysis by DETECTOR. We also detail procedures for applying pre-trained models and training custom models on new customized datasets. For complete details on the use and execution of this protocol, refer to Bulcaen et al.1.

PMID:39893642 | DOI:10.1016/j.xpro.2024.103593