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BACKGROUND: Primary ciliary dyskinesia (PCD, MIM 244400) is an inherited ciliopathy disorder characterized by recurrent sinopulmonary infections, subfertility, and laterality defects. The true incidence of PCD in Saudi Arabia is not known, but it is likely underdiagnosed due to the high prevalence of consanguineous marriages. In this study, we aim to study the clinical and genetic characteristics of PCD patients in the southwestern region of Saudi Arabia to provide guidance to clinicians and researchers studying PCD. METHODS: This was a cross-sectional study conducted between 2019 and 2023 in Abha Maternity and Children's Hospital. Twenty-eight patients with clinically diagnosed PCD were recruited. The diagnosis of PCD was confirmed via whole-exome sequencing. RESULTS: A total of 28 patients from 20 families were identified and recruited for this study. The median age of patients was 7.5 years (IQR = 3, 13 years). The people of different sexes were evenly distributed, and 18 patients (64%) had neonatal respiratory distress (NRD). The median age of diagnosis was 5.5 years (IQR = 2, 11 years), while the age when the first symptoms appeared was 3 months old (IQR = 1, 6 months). The prevalence of a chronic wet cough, chronic rhinosinusitis, ear infections were 100% (n = 28), 78.6% (n = 22), and 67.9% (19), respectively. The most common gene in our study was DNAH5, which represented 17.9% (five out of twenty-eight) of the cases. Furthermore, the remaining pathogenic variants included: 14.3% with RSPH9 in four individuals (three families), 14.3% with DNAI2 in four individuals (two families), and 10.7% with LRRC56 in three individuals (one family). The most common findings on the chest CT scans were consolidation (seen in all patients), mucus plugging (seen in 95%), and bronchiectasis (seen in 77%). In the patients with bronchiectasis, the most commonly affected lobes were the right lower lobe (88%) and left lower lobe (76%). The patients with PCD and situs inversus were more likely to experience NRD than the patients with PCD and situs solitus. The median PICADAR score in the patients with PCD and situs inversus (median: 11.5; Q1: 10-Q3: 12.5) was significantly higher compared to those with PCD and situs solitus (median: 7.5; Q1: 5.8-Q3: 8) (U = 10.5; p < 0.001). CONCLUSION: This study provides preliminary data on the clinical and genetic characteristics of PCD patients in the southwestern region of Saudi Arabia. We found that DNAH5 and RSPH9 genes were the most common genes among the studied population. Furthermore, PCD should be considered for each child with early NRD and laterality defects, and further confirmatory tests are recommended. These findings also highlight the need for greater awareness of the disease in daily clinical practice to facilitate early diagnosis and avoid irreversible lung damage.
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BACKGROUND: Coronavirus disease 2019 (COVID-19) has rapidly spread worldwide and is characterized by different presentations ranging from asymptomatic to severe pneumonia. COVID-19 affects all age groups, including pediatric patients. We observed numerous children complaining of a cough post-COVID-19, even if it was trivial. The most reported persistent symptoms after recovery from COVID-19 were insomnia, coughing, fatigue, dyspnea, loss of taste and/or smell, and headache. To date, residual cough post-COVID-19 has been reported in pediatrics and adolescents. METHOD: we conducted a retrospective study, with a self-administered questionnaire by the patient or caregiver, 12 months post-COVID-19-infection. RESULT: A total of 94.8% of patients were Saudi citizens and were mainly from the southern region of Saudi Arabia (50.0%). Mothers (64.4%) submitted most of the results. The ages were as follows: 6-14 years (51.0%), 3-5 years (32.3%), and younger than 2 years of age (only 16.7%). Females accounted for 41.7% of those studied. Nearly half of the patients (48.5%) had had a previous COVID-19 infection in 2022, with only 2.1% infected in 2019. Only 27/194 (13.9%) patients required hospital admission, and 7 of them (4.2%) required intensive care treatment. A total of 179 (92.2%) patients still reported persistent symptoms 4 weeks post-COVID-19-infection. A cough was reported in 69.8% of patients, followed by cough and wheezing in 12.3%. The cough was described as dry in 78.0% and nocturnal in 54.1%, while 42.5% did not notice any diurnal variation. For those reporting residual cough, 39.3% found that it affected school attendance and daily activities, 31.1% reported associated chest pain, 51.9% associated it with wheezing, and 27.1% associated it with shortness of breath. For 54.4%, the residual cough lasted less than one month, while 31.4% reported a 1-2 month duration. Only 1.0% had a duration of cough of more than 3 months. For cough relief, 28.2% used bronchodilators, 19.9% used cough syrup, 16.6% used a combination of bronchodilators and steroid inhalers, and 1.7% used antibiotics. Surprisingly, 33% attempted herbal remedies for cough relief. Sesame oil was used the most (40.0%), followed by a mixture of olive oil and sesame oil (25.0%), and 21.7% used male frankincense. The majority (78.4%) sought medical advice for their post-infection cough, either from general pediatricians (39.5%) or via specialist pediatric pulmonology consultations (30.9%). A total of 11.0% with a residual cough reported having pets at home, while 27.2% reported secondhand smoke exposure in the household. Before infection with COVID-19, only 32.6% were diagnosed with asthma, while 68.2% reported a diagnosis of atopic skin. CONCLUSIONS: There was a high prevalence of residual cough post-COVID-19, extended for a minimum of two months, and the characteristics of the cough were very similar to those of asthmatic patients. There was still a high prevalence of using cough syrup and herbal remedies, especially olive oil, sesame oil, and male frankincense. A residual cough adversely affected school attendance in daily activities, and there was a high prevalence of other siblings in the family being affected. The study showed that a minority of patients were seen by the pulmonologist; luckily, long COVID was rare in our study, and so further studies are highly needed to confirm the association with asthma. More educational programs are highly needed regarding herbal remedies and cough syrup.
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Montelukast is a leukotriene receptor antagonist (LTRA) commonly prescribed for asthma, allergic rhinitis and sleep-related breathing disorders. Recently, some studies have reported several adverse events, such as neuropsychiatric disorders and sleep disturbances, among children. OBJECTIVE: To obtain more insight into the safety profile of montelukast for children with asthma, allergic rhinitis and sleep-related breathing disorders. METHOD AND RESULTS: We retrospectively studied all adverse drug reactions to montelukast among 385 children 6 months or older in six tertiary centers over a two-year period. A total of 89.6% were asthmatic, 50% had allergic rhinitis and 13.6% had sleep-related breathing disorders; Singulair was the most common type of montelukast used (67.9%). This study reported a high prevalence of adverse drug reactions among 123 patients (31.9%), predominantly in those aged 4-9 years (52.8%), followed by adolescents (24.4%) and toddlers (22.8%). Two (ADRs) were reported in 9.8% of the children, while three or more were reported in 5.5%. Sleep disturbance was the most common (ADRs), affecting 15.1% of participants (overlap was common; 5.5% of children experienced sleep difficulties, 4.4% experienced sleep interruption and decreased sleep, and 1.82% experienced nightmares), followed by agitation (10.4%), pain (9.4%) and hyperactivity (6.8%). No serious (ADRs) were reported. Eleven percent of families faced difficulties in purchasing montelukast, and only 57% of families had insurance. Misconceptions were common (9.8% reported it to be a steroid, while 30.6% believed it to be a bronchodilator). Although 81% of the families believed it was an effective and preventive medication, 5.3% stopped the drug due to concern about side effects, especially agitation (3%) and nightmares (0.6%). CONCLUSION: These data demonstrate that montelukast is effective, but the associated adverse neuropsychiatric drug reactions are more prevalent than those reported in the literature. In particular, sleep disturbance, agitation, pain and hyperactivity were observed. Pediatricians should be aware of such (ADRs). Misconceptions about montelukast are still common, and parental counseling and urgent epidemiological studies are needed to quantify the risk for management plans.