Pediatric Pulmonology最新文献

Objectives: We evaluated what proportion of families have a consumer-grade pulse oximeter, why they bought one, and how they choose to use it.

Working hypothesis: We hypothesized that children followed in cardiorespiratory clinics would be more likely to have an oximeter than children attending a more general clinic.

Study design and subject selection: We carried out a cross-sectional study using a convenience sample of children attending a respirology, cardiology, or gastroenterology clinic at a children's hospital. Consenting guardians completed a survey.

Results: Two-hundred families completed the survey. Fifty-three (26.5%; 53/200) had an oximeter at home. The proportion of children attending a cardiorespiratory clinic who had an oximeter was higher than another clinic (p = 0.08), but 15.5% of children attending the latter also had access to one. Of devices not funded by government insurance, over 80% of devices were "fingertip" clamp-style oximeters, and 50% were purchased online. Most devices were used only when the child was ill (83.7%; 36/43). Only about 1/3 of families had received education about using an oximeter, and a similar proportion had compared their oximeter to a medical-grade device. Only 2.4% (1/42) respondents did not feel that their device was "somewhat" or "very" accurate. The oxygen saturation that would prompt seeking emergency care was similar to most pediatric acute care guidelines.

Conclusions: Many children, particularly those with cardiorespiratory conditions, have access to consumer-grade pulse oximeters. Asking about the presence of an oximeter should be part of the pediatric history, and families responding affirmatively should be offered education.

Objective: The clinical implications of a postnatal chest X-ray (CXR) in asymptomatic children with a prenatally diagnosed congenital lung malformation (CLM) are uncertain. We assessed the justification for the postnatal use of CXR in these children.

Methods: We included patients with CLM confirmed through chest computed tomography angiography or histopathological analysis who were asymptomatic at birth, underwent routine postnatal CXR, and participated in our standard of care prospective structured longitudinal follow-up program. Children with major associated morbidities were excluded. Primary outcomes were the positive and negative predictive values (PPV and NPV) of CXR findings for symptom development at 4 weeks and 6 months of age. Secondarily, we sought to establish whether CXR findings were associated with undergoing additional diagnostics during the initial observational hospital stay or prolonged postnatal hospital admission.

Results: Among 121 included patients, CXR showed no abnormalities in 35 (29%), nonspecific abnormalities in 23 (19%), and probable CLM in 63 (52%). The PPV of CXR in relation to symptom development at 4 weeks and 6 months was 0.05 and 0.25, respectively. Corresponding NPVs were 0.96 and 0.91. An association was identified between CXR findings and undergoing further diagnostics during the initial observational hospital stay (p = .047). Additional diagnostic findings did not influence clinical management. CXR findings were not associated with prolonged initial hospital stay (p = .40).

Conclusion: The routine practice of postnatal CXR in asymptomatic patients with prenatally diagnosed CLM can be omitted, as CXR findings do not influence subsequent clinical management.

Background: Biallelic ATP-binding cassette subfamily A member 3 (ABCA3) variants can cause interstitial lung disease in children and adults, for which no proven treatments exist. Recent in vitro evidence suggested that cyclosporine A (CsA) could correct some ABCA3 variants, however for other variants this is unknown and no data in patients exist.

Methods: We retrieved the clinical data of two children aged 2 and 4 years carrying homozygous ABCA3 variants (G210C and Q1045R, respectively) and empiric CsA treatment from the Kids Lung Register database. In vitro experiments functionally characterized the two variants and explored the effects of CsA alone or combined with hydroxychloroquine (HCQ) in a human alveolar epithelial cell line (A549) derived from adenocarcinoma cells.

Results: Six weeks following the introduction of CsA, both children required a reduced O₂ flow supply, which then remained stable on CsA. Later, when CsA was discontinued, the clinical status of the children remained unchanged. Of note, the children simultaneously received prednisolone, azithromycin, and HCQ. In vitro, both ABCA3 variants demonstrated defective lysosomal colocalization and impaired ABCA3⁺ vesicle size, with proteolytic cleavage impairment only in Q1045R. CsA alone corrected the trafficking impairment and ABCA3⁺ vesicle size of both variants with a variant-specific effect on phosphatidylcholine recycling in G210C. CsA combined with HCQ were additive for improving trafficking of ABCA3 in G210C, but not in Q1045R.

Conclusions: CsA treatment might be helpful for certain patients with ABCA3 deficiency, however, currently strong clinical supporting evidence is lacking. Appropriate trials are necessary to overcome this unmet need.

Newborn screening for cystic fibrosis (CF) occasionally results in an inconclusive diagnosis of this disease, and these individuals are designated as CFTR-related metabolic syndrome (CRMS) in the United States, and CF Screen Positive Inconclusive Diagnosis (CFSPID) in other countries. Some of these asymptomatic individuals will progress to symptomatic disease, but risk factors associated with disease progression are not well understood. This scoping review was conducted to comprehensively map nonbiological risk factors in the CRMS/CFSPID literature and to identify understudied topics. Six electronic databases were systematically searched, resulting in 2951 studies. Forty nine eligible works were identified as including information on nonbiological risk factors related to CRMS/CFPSID. Eligible studies were published from 2002 to 2024, most prevalently in the United States (36.7%), and as quantitative data (81.6%). Of the 49 eligible works, 23 articles contributed only intellectual conjecture, while 26 articles contained original data, which underwent full-text qualitative content analysis. Key themes identified in descending order of content coverage included Psychological Impact, Management Care, Newborn Screening and Diagnostics, Communicating Diagnosis, and Lifestyle and External Exposures. This scoping review identified that while nonbiological risk factors are being studied in the CRMS/CFSPID literature, there was nearly equal distribution of works gathering original data to those citing previously published information. These findings indicate a critical need for original data collection on these risk factors, particularly on understudied topics identified herein.

Background: Primary ciliary dyskinesia (PCD) is a genetic disorder affecting motile cilia. Most cases are inherited recessively, due to variants in >50 genes that result in abnormal or absent motile cilia. This leads to chronic upper and lower airway disease, subfertility, and laterality defects. Given overlapping clinical features and genetic heterogeneity, diagnosis can be difficult and often occurs late. Of those tested an estimated 30% of genetically screened PCD patients still lack a molecular diagnosis. A molecular diagnosis allows for appropriate clinical management including prediction of phenotypic features correlated to genotype. Here, we aimed to identify how readily a genetic diagnosis could be made using whole genome sequencing (WGS) to facilitate identification of pathogenic variants in known genes as well as novel PCD candidate genes.

Methods: WGS was used to screen for pathogenic variants in eight patients with PCD.

Results: 7/8 cases had homozygous or biallelic variants in DNAH5, DNAAF4 or DNAH11 classified as pathogenic or likely pathogenic. Three identified variants were deletions, ranging from 3 to 13 kb, for which WGS identified precise breakpoints, permitting confirmation by Sanger sequencing. WGS yielded identification of a de novo variant in a novel PCD gene TUBB4B.

Conclusion: Here, WGS uplifted genetic diagnosis of PCD by identifying structural variants and novel modes of inheritance in new candidate genes. WGS could be an important component of the PCD diagnostic toolkit, increasing molecular diagnostic yield from current (70%) levels, and enhancing our understanding of fundamental biology of motile cilia and variants in the noncoding genome.

Background: Cystic fibrosis (CF) patients have a limited life expectancy, but significant medical advances now highlight the need for successful transition programs from pediatric to adult care. The goal of this project was to introduce the transition program CF R.I.S.E (Responsibility. Independence. Self-care. Education.) to a CF center with limited resources at Marmara University (MU).

Methods: The program was adapted and translated into Turkish with the CF Foundation's permission. A team of experts collaborated to develop educational materials for patients and families. After translation and implementation of the CF S.O.B.E program, 11 Knowledge Assessment Questionnaire (KQA) tests were administered online to the patients aged between 16 and 25 years to assess the lack of patient knowledge.

Results: The CF R.I.S.E program was successfully implemented within 6 months. A pilot study showed positive feedback from randomly selected patients, indicating the program's effectiveness and understandability. The mean age of the patients was 19.4 ± 2.9 years, and 42 (52%) were female. The mean forced expiratory volume (FEV1pp) was 76.3 ± 23.2. Fourteen (17.3%) and 4 (4.9%) of the patients colonized with Pseudomonas aeruginosa and Methicillin-resistant Staphylococcus aureus (MRSA), respectively. Fifteen (18.5%) were on modulator therapy. Eleven Knowledge Assessment Questionnaires (KAQ) surveys were administered to 81 patients. The percentage of correct responses to the KAQs ranged from 47.9% to 68.3%.

Conclusion: MU CF Center in Turkey implemented the CF S.O.B.E (Responsibility, Self-care, Independence, and Education in Turkish) program. The center aims to make the program a regular practice and expand collaboration with adult clinics. Future studies will assess its long-term impact and applicability in different health settings. The final goal is to disseminate the program's resources and promote structured transition practices across the country.

Introduction: Primary ciliary dyskinesia (PCD) and cystic fibrosis (CF) are respiratory conditions requiring regular chest radiography (CXR) surveillance to monitor pulmonary disease. However, CXR is insensitive for lung disease in CF and PCD. Lung ultrasound (LU) is a radiation-free alternative showing good correlation with severity of lung disease in CF but has not been studied in PCD.

Method: Standardized, six-zone LU studies and CXR were performed on a convenience sample of children with PCD or CF during a single visit when well. LU studies were graded using the LU scoring system, while CXR studies received a modified Chrispin-Norman score. Scores were correlated with clinical outcomes.

Result: Data from 30 patients with PCD and 30 with CF (median age PCD 11.5 years, CF 9.1 years) with overall mild pulmonary disease (PCD median FEV₁ 90% predicted, CF FEV₁ 100%) were analyzed. LU abnormalities appear in 11/30 (36%) patients with PCD and 9/30 (30%) with CF. Sensitivity, specificity, positive predictive, and negative predictive values for abnormal LU compared to the gold standard of CXR are 42%, 61%, 42%, and 61% in PCD, and 44%, 81%, 50%, and 77% in CF, respectively. Correlation between LU and CXR scores are poor for both diseases (PCD r = -0.1288, p = 0.4977; CF r = 0.0343, p = 0.8571), and LU score does not correlate with clinical outcomes in PCD.

Conclusion: The correlation of LU findings with CXR surveillance studies is poor in patients with mild disease burdens from PCD or CF, and LU scores do not correlate with clinical outcomes in PCD.