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    Evaluation of the clinical and genetic characteristics of primary ciliary dyskinesia patients with situs inversus totalis
    (John wiley and sons inc, 2025) Kahraman, Feyza Ustabaş; Jafarov, Uzeyir; Yazan, Hakan; Yurtsever, İsmail; Çakır, Erkan; Sayın, Gözde Yeşil
    BackgroundSitus inversus totalis (SIT) is present in approximately 40%-50% of patients with primary ciliary dyskinesia (PCD). We evaluated the relationships between novel genetic results and the clinical and radiological characteristics of PCD patients with SIT. MethodsThe study included 48 patients diagnosed with PCD and SIT. Demographic and clinical features, disease-related scores (Bhalla, Primary Ciliary Dyskinesia Rule [PICADAR], and American Thoracic Society [ATS]), and genetic analyses were retrospectively assessed. ResultsThe median age of patients was 13 (6.5-16) years, and parental consanguinity was observed in 43 (89.58%) patients. Bhalla score was available in 31 patients and "moderate and severe" score was observed in 19 (61.29%) patients. The median PICADAR score was 10 (8-11), and 34 (70.83%) patients had a high (>= 10) PICADAR score. The ATS score was found to be 4 in 24 (50%) patients and 3 in 20 (43.75%) patients. Genetic data were available in 40 patients and mutations were found in 27 (67.5%) patients. The most common pathogenic variants were DNAH5 in 8 (20%), CCDC103 in 4 (10%), and CCDC39 in 3 (7.5%) patients. Subjects with any genetic variants may be older, have a greater frequency of parental consanguinity, higher Bhalla score, and higher ATS score (p < 0.05). DNAH5 mutation was associated with a lower likelihood of neonatal ICU stay and neonatal respiratory distress-related symptoms (p = 0.036 and 0.015, respectively). ConclusionsSitus abnormalities may be a warning sign for the early diagnosis of PCD. Early diagnosis of PCD through genetic analysis is important for preventing chronic lung pathologies and predicting prognosis and may improve the quality of life.
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    Long-term Home Mechanical Ventilation of Children in İstanbul
    (AVES, 2025) Yanaz, Mürüvvet; Ünal, Füsun; Hepkaya, Evrim; Yazan, Hakan; Can Oksay, Sinem; Köstereli, Ebru; Yılmaz Yeğit, Cansu; Başkan, Azer Kılıç; Onay, Zeynep Reyhan; Gulieva, Aynur; Soyyiğit, Aslınur; Kalyoncu, Mine; Küçük, Hanife Büşra; Ayhan, Yetkin; Ergenekon, Almala Pınar; Atağ, Emine; Uzuner, Selçuk; İkizoğlu, Nilay Baş; Kılınç, Ayşe Ayzıt; Ay, Pınar; Eralp, Ela Erdem; Gökdemir, Yasemin; Öktem, Sedat; Çakır, Erkan; Girit, Saniye; Uyan, Zeynep Seda; Çokuğraş, Haluk; Ersu, Refika; Karadağ, Bülent; Karakoç, Fazilet
    OBJECTIVE: The aims of this multi-center study were to describe the characteristics of children receiving long-term home mechanical ventilation (HMV) in İstanbul and to compare the patients receiving non-invasive and invasive ventilation. MATERIAL AND METHODS: This cross-sectional multicenter study included all children receiving long-term HMV followed by admission to six tertiary hospitals. The data were collected between May 2020 and May 2021. Demographic data and data regarding HMV were collected from the patient charts. RESULTS: The study included 416 participants. The most common diagnoses were neuromuscular (35.1%) and neurological diseases (25.7%). Among the patients, 49.5% (n = 206) received non-invasive ventilation (NIV), whereas 50.5% (n = 210) received invasive ventilation. The median age at initiation was significantly younger in the invasive ventilation group than in the NIV group (10 vs. 41 months, P < 0.001). Most subjects in the NIV group (81.1%) received ventilation support only during sleep, whereas most subjects in the invasive ventilation group (55.7%) received continuous ventilator support (P < 0.001). In addition to ventilation support, 41.9% of the subjects in the invasive ventilation group and 28.6% in the NIV group received oxygen supplementation (P = 0.002). Within the last year, 59.1% (n = 246) of the subjects were hospitalized. The risk factors for hospitalization were invasive ventilation, continuous ventilatory support, oxygen supplementation, tube feeding, and swallowing dysfunction (P = 0.002, 0.009, <0.001, <0.001 and <0.001 respectively). CONCLUSION: Despite the increasing use of NIV in most studies, half of the study population received invasive ventilation. Patients receiving invasive ventilation were more likely to require continuous ventilator support and oxygen supplementation and were at increased risk of hospitalization. © 2025 The Author.