Combining RSPH9 founder mutation screening and next-generation sequencing analysis is efficient for primary ciliary dyskinesia diagnosis in Saudi patients.

Primary ciliary dyskinesia (PCD) is a clinically and genetically heterogeneous ciliopathy. Dysfunction of motile respiratory and nodal cilia results in sinopulmonary symptoms associated with laterality defects (LD) found in half of the patients. The molecular basis of the disease is insufficiently investigated in patients originating from the Arabian Peninsula. In a group of 16 unrelated Saudi patients clinically suspected of PCD and among whom only 5 (31%) had LD, we first screened by PCR-RFLP two founder mutations, RSPH9 c.804_806del and CCDC39 c.2190del previously identified in patients from the Arabian Peninsula and Tunisia, respectively. When negative, targeted panel or whole-exome sequencing was performed. Three patients were homozygous for the mutation in RSPH9, which encodes an axonemal protein that is absent from nodal cilia. None of the patients carried the CCDC39 founder mutation frequent in Tunisia. NGS analysis showed that nine patients had homozygous mutations in PCD genes. In total, sequential RFLP and NGS analysis solved 75% (12/16) of cases and identified ten distinct mutations, among which six are novel, in nine different genes. These results, which highlight the genetic heterogeneity of PCD in Saudi Arabia, show that the RSPH9 c.804_806del mutation is a prevalent mutation among Saudi patients, whereas the CCDC39 c.2190del ancestral allele is most likely related to the Berber population. This study shows that RSPH9 founder mutation first-line screening and NGS analysis is efficient for the genetic exploration of PCD in Saudi patients. The RSPH9 founder mutation accounts for the low rate of LD among Saudi patients.

Severe asthma in children: An official statement from Saudi Pediatric Pulmonology Association.

In Saudi Arabia, the prevalence of pediatric asthma ranges between 8% and 25%. However, there are no sufficient data regarding severe asthma in childhood in Saudi Arabia. Therefore, a task force has been formed by the Saudi Pediatric Pulmonology Association which is a subsidiary group of the Saudi Thoracic Society and consists of Saudi experts with well-respected academic and clinical backgrounds in the fields of pediatric asthma as well as other respiratory diseases to write a consensus on definitions, phenotypes, and pathophysiology, evaluation, and management. To achieve this, the subject was divided into various sections, each of which was assigned to at least 2 experts. Without a central literature review, the authors searched the literature using their own strategies. To reach an agreement, the entire panel reviewed and voted on proposed findings and recommendations.

Childhood Asthma Awareness in Saudi Arabia: Five-Year Follow-Up Study.

BACKGROUND: Bronchial asthma is a chronic inflammatory airway disease that is characterized by reversible airway obstruction due to bronchial hyperresponsiveness. It is one of the most common chronic diseases. In Saudi Arabia, asthma affects 2 million people with asthma frequency in children markedly higher than adults with regional variations ranging from 9% to 33.7%. OBJECTIVE: The aim of this study is to measure asthma awareness and knowledge of study participants during the ongoing annual Saudi asthma awareness campaigns and compare them with previous survey data conducted in 2014. METHODS: A cross-sectional study was carried out in the form of a survey distributed across three major cities in Saudi Arabia, Jeddah, Riyadh and Dammam, during the National Asthma Awareness Campaign in major regional shopping centers in April 2019. Asthma knowledge scores across different demographic groups were generated from surveyed data. Descriptive and correlative statistical analyses were performed to identify factors associated with changes in asthma knowledge. Scores were compared to previous survey results. RESULTS: The mean score for asthma knowledge was 15.6 out of 25. Asthma knowledge significantly correlated with age (P=0.002), asthma status of the participants (P=0.001), having children with asthma (P=0.005) or knowing friends or family with asthma (P=0.029) but not with other socioeconomic factors such as gender, marital status, occupation, level of education and number of children in the family (P > 0.05). There was a significant difference in the asthma scores from 2014 (M= 63%, SD=26) to 2019 (M= 70%, SD= 26) conditions; t (24) = -2.106, p=0.046. CONCLUSION: Further educational campaigns are necessary to enhance and measure general public awareness of asthma, its differential diagnosis against other respiratory infections, environmental triggers, risk factors as well as treatment options.