Primary ciliary dyskinesia is a rare genetic ciliopathy characterized by impaired clearance of the airway, leading to recurrent airway infections and various pulmonary conditions. The underlying cause of PCD is complex and involves diverse mechanisms. On one hand, advancements in genetic analysis techniques have significantly contributed to identifying the mutated genes associated with PCD, which in turn, can aid in understanding the variable clinical presentations of the disease. On the other hand, based on the mutated gene, disease manifestation may change and this makes it more challenging to establish a standardized diagnosis approach. Hence, it is important to approach it with a comprehensive perspective. In this study, 8 Turkish individuals with PCD were subjected to whole-exome sequencing (WES) analysis, as well as other diagnostic tests such as ciliary beat frequency measurement, immunofluorescence staining (IF), and confocal microscopy. The findings from this study not only contribute to the enlightenment of PCD aetiology but also emphasize the importance of a multidisciplinary approach when diagnosing and understanding this complex genetic disorder.

Abstract Background: There has been no trial evaluating the psychopathology in breastfeeding mothers of infants with food allergy (FA). Objective: To investigate the effect of dietary elimination on maternal psychopathology, specifically stress/anxiety and mother-to-infant bonding and explore the importance of sociodemographic features on these variables. Methods: Breastfeeding mothers following an elimination diet due to FA in their children aged 1-to-12 months were compared with the healthy controls. Physician-diagnosed FA group were divided into IgE-, non-IgE-mediated and infants with some minor symptoms which were not enough to make the diagnosis of FA were classified as Indecisive symptoms for FA group. Mothers completed standardized questionnaires including Symptom Checklist 90R, Beck Depression/Anxiety Inventories (BDI/BAI), Postpartum Bonding Questionnaire (Bonding). Results: Of 179 mother-infants, 64 were healthy, 89 were FA, 16 were indecisive symptoms for FA. The mean age of the mothers and infants were 31.1±4.7 years and 6.3±3.6 months. The physician diagnosed FA groups had higher scores for anxiety (p=0.008), anger (p=0.042), depression (p<0.001), obsession (p=0.002), phobia (p=0.008), somatization (p=0.002) and general symptom index (GSI) (p=0.001), BDI (p<0.001), BAI (p=0.008) and Bonding [attachment (p=0.001), anger (p=0.019) and total (p=0.036)] than the healthy. The indecisive symptoms for FA group had a similar score pattern to physician-diagnosed FA except interpersonal sensitivity, BDI and attachment. Conclusion: Breastfeeding mothers of infants with FA were anxious, depressive and had many psychopathologies which affected bonding. Interventions targeting negativity in caregivers’ social relationships are urgently needed.

Montelukast therapy in asthmatic children with and without food allergyUmit Murat Sahiner1*, Ebru Arik Yilmaz1*, Sara Fontanella2, Sadia Haider2, Ozge Soyer1, Adnan Custovic2, Omer Kalayci1, Cansin Sackesen1,3*Equal contribution1 Hacettepe University School of Medicine, Division of Pediatric Allergy, Ankara, Turkey2 National Heart and Lung Institute, Imperial College London, UK3 Koc University School of Medicine, Division of Pediatric Allergy, Istanbul TukeyRunning Title: Montelukast in asthma and food allergyFunding Source: The study drugs, placebos and laboratory kits were provided by Merck Sharpe and Dohme Company. The protocol was developed by the corresponding author Prof Cansin Sackesen and reviewed by Merck Sharpe and Dohme Company. However, there is no contribution of Merck Sharpe and Dohme Company to the results and discussion of the article.Conflicts of Interest: The authors declare no conflicts of interest in relation to this study.