Mine Kalyoncu

Objective: Otitis media and conductive hearing loss are common in patients with primary ciliary dyskinesia (PCD). We primarily aimed to assess the impact of otologic features of individuals with PCD on health‐related quality of life (QOL), and our secondary aims are characterization of the coexisting pulmonary and sinonasal findings. Methods: Demographic data, spirometry values, a health‐related quality of life questionnaire for PCD patients (QOL‐PCD), physical examination data of sinonasal and otologic systems, the sinonasal outcome test‐22, and audiologic tests were recorded in this cross‐sectional study. The pure tone audiometry, distortion product otoacoustic emission (DPOAE), tympanogram, and the Turkish matrix test (TUR‐matrix) evaluating speech understanding in noise were performed. Results: Fifty‐six patients with PCD were included in the study. The scores of the social, upper, and lower respiratory domains of the QOL‐PCD were significantly lower in adults than in children and adolescents ( p ‐value < 0.001, 0.02, and 0.01, respectively). The hearing and the TUR‐matrix were pathologic in 26 (46.4%) and 36 (64.3%) cases, respectively. Patients with pathological hearing had significantly worse results in regards to the FEV ₁ z‐score (−1.7 vs. −0.8, p = 0.01), the TUR‐matrix test (20 vs. 16 cases, p = 0.001), the DPOAE (25 vs. 11 cases, p < 0.001), and the tympanogram (26 vs. 12 cases, p < 0.001) than patients with normal hearing. Conclusion: Sinopulmonary involvement and hearing manifestations are very common in patients with PCD, and speech understanding in noise is often impaired. These manifestations impact QOL in various areas.

Objective: This study aimed to evaluate 5‐year outcomes of a structured quality improvement (QI) program implemented as part of the standard of care at our CF center, focusing on changes in body mass index (BMI) and forced expiratory volume in 1 s (FEV₁) in pwCF followed at our institution. Methods: The medical records of pwCF registered at our CF center between January 1, 2018, and December 31, 2022, were retrospectively reviewed. Demographic and clinical data of pwCF submitted by our center to the European Cystic Fibrosis Society Patient Registry (ECFSPR) were used for this analysis. Structured QI strategies were initiated in 2018 after collaboration with the University of Michigan CF Center and focused on nutrition, respiratory care, and treatment adherence. Time‐dependent changes in FEV1 percent predicted (FEV1pp) were evaluated using a linear mixed‐effects regression model. Results: All 440 pwCF followed at our center during the study period were included in the analysis. Over 5 years, BMI z‐scores improved significantly in children ( p < 0.001), while adult BMI remained stable ( p = 0.10). No significant linear change in mean FEV₁pp was observed in adjusted longitudinal models ( p > 0.05), however, descriptive analyses showed an increase in median FEV₁pp among adults. Higher BMI was associated with better lung function ( p < 0.001) and lower IV antibiotic burden in correlation analyses (children: p < 0.001; adults: p = 0.045). The estimated mean survival age of the analysis cohort was 46.1 years. Conclusion: To our knowledge, this is the first report of a cohort of Turkish pwCF summarizing 5‐year longitudinal registry data with survival estimates. These findings suggest that sustained, center‐wide QI efforts may help maintain or improve clinical outcomes, particularly in settings with limited access to CFTR modulators.

Background: Sweat testing remains central to the diagnosis of cystic fibrosis (CF), with the sweat chloride test (SCT) serving as the gold standard since 1959. However, SCT has important limitations, including restricted availability in low‐ and middle‐income countries (LMICs), difficulty obtaining adequate sweat samples in infants, and diagnostically ambiguous intermediate results. Methods: This narrative review summarizes established and emerging sweat‐based diagnostic approaches for CF, with a focus on their clinical utility, limitations, and relevance across different healthcare settings. Results: SCT remains the reference method for confirming CF, but sweat conductivity has emerged as a practical screening tool, particularly in LMICs, because of its simplicity, low sample requirement, and high sensitivity. Advanced CFTR functional assays, including nasal potential difference and intestinal current measurement, provide sensitive assessment of CFTR dysfunction but are technically demanding and largely restricted to specialized centers. The β‐adrenergic sweat test offers a promising in vivo alternative for evaluating CFTR‐mediated sweat secretion and may help distinguish CF, CFTR‐related disorders, carriers, and unaffected individuals. Emerging technologies, such as wearable sweat sensors, microneedle‐based sweat induction systems, and other noninvasive approaches, may further expand diagnostic possibilities. Conclusion: Combining accessible screening tools with functional and emerging sweat‐based methods may improve CF diagnosis, particularly in LMICs and diagnostically challenging cases.

Background: Cystic fibrosis (CF) is a life‐threatening disease that requires extensive knowledge for effective management. This study aimed to assess the knowledge levels of parents of children diagnosed with CF through newborn screening (NBS), evaluate their experiences during the diagnostic process, and determine the impact of education on their CF knowledge. Methods: This quasi‐experimental study involved 47 parents of children aged 0–30 months diagnosed with CF through NBS at four CF centers in Istanbul, Turkey. Parents completed a questionnaire assessing their CF knowledge before and after receiving face‐to‐face education, informational brochures, and an online webinar. The questionnaire covered general CF features, lung health, sexual function and infertility, and gastrointestinal issues. Results: The study revealed significant deficiencies in parental knowledge about CF and the NBS process. Only 25.5% of parents were informed about NBS prenatally, and 51.1% received information about CF when NBS results were positive. After educational intervention, correct response rates significantly increased for general characteristics ( p = 0.003), sexual health ( p < 0.001), lung health ( p = 0.007), and overall knowledge ( p < 0.001). Parents of children older than 12 months showed more pronounced improvement in knowledge across various sections compared to parents of younger children. Conclusion: The study highlights the need for a more robust educational framework to equip parents with comprehensive knowledge about CF. Improved communication strategies about NBS processes and repeated educational interventions are necessary to address knowledge gaps and enhance the quality of life for CF patients and their families.

Background: Cystic fibrosis (CF) is a life-threatening disease that requires extensive knowledge for effective management. This study aimed to assess the knowledge levels of parents of children diagnosed with CF through newborn screening (NBS), evaluate their experiences during the diagnostic process, and determine the impact of education on their CF knowledge. Methods: This quasi-experimental study involved 47 parents of children aged 0-30 months diagnosed with CF through NBS at four CF centers in Istanbul, Turkey. Parents completed a questionnaire assessing their CF knowledge before and after receiving face-to-face education, informational brochures, and an online webinar. The questionnaire covered general CF features, lung health, sexual function and infertility, and gastrointestinal issues. Results: The study revealed significant deficiencies in parental knowledge about CF and the NBS process. Only 25.5% of parents were informed about NBS prenatally, and 51.1% received information about CF when NBS results were positive. After educational intervention, correct response rates significantly increased for general characteristics (p=0.003), sexual health (pConclusion: The study highlights the need for a more robust educational framework to equip parents with comprehensive knowledge about CF. Improved communication strategies about NBS processes and repeated educational interventions are necessary to address knowledge gaps and enhance the quality of life for CF patients and their families.

Sweat testing remains a fundamental diagnostic tool for cystic fibrosis (CF), with the classic sweat chloride test (SCT) established as the gold standard since 1959. Despite its wide use, SCT presents challenges including limited accessibility in low- and middle-income countries, difficulties in obtaining adequate sweat samples, especially from infants, and ambiguous borderline results that require further functional or genetic analysis. Newer diagnostic methods, such as nasal potential difference (NPD) and intestinal current measurement (ICM), provide sensitive and specific assessments of CFTR function, but are technically complex and require specialized expertise, restricting their use in resource-limited settings. The beta-adrenergic sweat test (BAST) emerges as a promising, less invasive alternative, directly measuring CFTR-mediated sweat production using evaporimetry or sweat bubble imaging techniques. BAST shows advantages including ease of use, rapid results, and the ability to distinguish between CF, CFTR-related disorders, heterozygotes, and unaffected individuals. Furthermore, recent advances in wearable sensor technologies and microneedle patches indicate future potential for continuous, real-time, and noninvasive sweat monitoring, which could revolutionize CF diagnostics and patient management. This review summarizes the strengths and limitations of current and emerging sweat test modalities, highlighting BAST and wearable sensors as impactful tools for improving CF diagnosis and monitoring, especially in settings with limited resources.

Objective: Otitis media and conductive hearing loss are common in patients with primary ciliary dyskinesia (PCD). We aimed to assess the pulmonary, ear-nose-throat, and otologic features of individuals with PCD and their effect on quality of life (QOL). Methods: Demographic data, spirometry values, a health-related quality of life questionnaire for PCD patients (QOL-PCD), physical examination data of sinonasal and otologic systems, the sinonasal outcome test-22, and audiologic tests were recorded in this prospective, and cross-sectional study. The pure tone audiometry, distortion product otoacoustic emission (DPOAE), tympanogram, and the Turkish matrix test (TUR-matrix) evaluating speech understanding in noise were performed. Results: Fifty-six patients with PCD were included in the study. The scores of the social, upper, and lower respiratory domains of the QOL-PCD were significantly lower in adults than in children and adolescents (p-value 1 z-score (-1.7 vs. -0.8, p=0.01), the TUR-matrix test (20 vs 16 cases, p=0.001), the DPOAE (25 vs 11 cases, pConclusion: Sinopulmonary involvement and hearing manifestations are very common in patients with PCD, and speech understanding in noise is often impaired. These manifestations impact QOL in various areas.

Background: Cystic fibrosis (CF) is a genetic disorder that necessitates high‐calorie, protein‐rich diets, leading to nutritional deficiencies. Food insecurity (FI) poses a significant challenge for people with CF (pwCF), impacting their ability to maintain the necessary dietary intake. This study aims to explore FI and dietary patterns among pwCF in Turkey. Methods: A cross‐sectional study involving 290 pwCF from the Marmara University Selim Çöremen Cystic Fibrosis Center was conducted between April 2023 and February 2024. The “US Household Food Security Survey Module” and the “Your Current Life Situation” survey were used to assess FI and socioeconomic status among the participants. Nutritional data, including BMI, FEV1 values, and dietary intake, were recorded. Results: Among the participants, 52.7% were female, with a mean age of 13.3 ± 8.1 years. FI was detected in 46.8% of pwCF, with 18% facing very low food security. Higher income levels were associated with better food security ( p = 0.008). Nutritional inadequacies were observed even among food‐secure individuals, particularly in the consumption of legumes, nuts, and fish. BMI and BMI percentile values were significantly lower in the very low FS group compared to the high FS group ( p = 0.03 and p = 0.02, respectively). Conclusion: Ensuring adequate nutrition and calorie intake is crucial for pwCF. Our study highlights significant FI among pwCF in Turkey, with income levels influencing food security status. Nutritional inadequacies persist even among those classified as food secure. Based on these findings, targeted nutritional support will be provided to those in need to improve overall health and well‐being.

Objective: Sleep-disordered breathing (SDB) is a prevalent concern in individuals with neuromuscular diseases (NMD), significantly impacting respiratory function and sleep quality. This study aimed to retrospectively evaluate the demographic, clinical, and baseline polysomnographic data of children with NMD to investigate the guiding effect of the Pediatric Sleep Questionnaire (PSQ) and the modified Epworth Sleepiness Scale (ESS-CHAD) in detecting SDB. Method: A retrospective analysis was conducted on children aged 2-18 years with NMD who underwent polysomnography (PSG) between January 2012 and January 2024. The study assessed various clinical parameters, including age, gender, BMI, underlying disease, PSG results, the PSQ and ESS-CHAD scores, and treatment methods. Statistical analyses were conducted to compare those with and without obstructive sleep apnea syndrome (OSAS). Results: Of the 174 patients included in the study, 90 patients (51.7%) had normal PSG, 56 patients (32.2%) had mild (OSAS), 12 patients (6.9%) had moderate OSAS, and 16 patients (9.2%) had severe OSAS. PSQ and ESS-CHAD were not significantly different between patients with and without OSAS (p>0.05). The most common treatment initiated was noninvasive ventilation (NIV), recommended for 23% of patients. Conclusion: PSG is the gold standard for diagnosing SDB in children with NMD. While PSQ and ESS-CHAD may be useful for screening in the general pediatric population, they are inadequate in identifying OSAS in children with NMD. Early diagnosis and treatment of SDB are crucial for improving outcomes in this patient group.

Introduction: Primary ciliary dyskinesia (PCD) is an autosomal recessive rare disease caused by alterations in ciliary structure and function. Without a unique gold standard diagnostic test, the European Respiratory Society and the American Thoracic Society recommend using various diagnostic techniques to improve accuracy. This study aimed to demonstrate the effectiveness of immunofluorescence (IF) analysis in the diagnosis of PCD cases with uncertain genetic results and to demonstrate the importance of international collaboration in the diagnosis of PCD.Methods: In collaboration with IF specialists at the University of Münster, individuals with inconclusive results in the Marmara University PCD panel consisting of the 22 most common genes and clinically suggestive of PCD were included in the study. IF imaging determined the subcellular localization of DNAH5 and GAS8 in respiratory epithelial cells. Nasal nitric oxide measurements, high-speed video microscopy (HSVM) analysis, and genetic analyses were performed.Results: 19 patients were evaluated. The median age (25–75p) was 15 years (10–20 years) with 12 (63.2%) males. Three cases (15.7%) showed an absence of DNAH5, and one (5.3%) had a proximal distribution of DNAH5 in the ciliary axoneme. One case (5.3%) had cells without cilia, indicating a possible ciliogenesis defect. All individuals with abnormal IF analysis had a PICADAR score of 6 or above, and their cilia were immotile in HSVM.Discussion: Consistent with the IF finding suggesting a ciliogenesis defect, further genetic analysis revealed biallelic pathogenic variants in CCNO in the affected individual. The absence of DNAH5 in the respiratory epithelial cells of an individual carrying heterozygous pathogenic splice variants in DNAH5 suggests the need for further genetic analysis. This study underscores the importance of international collaboration in diagnosing rare diseases like PCD.