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The incapacity to synthesize certain components of pulmonary surfactant causes a heterogeneous group of rare respiratory diseases called genetic disorders of surfactant dysfunction. We report a female full-term infant with neonatal respiratory distress of early onset due to inherited SP-B deficiency. The infant failed oxygen weaning at multiple trials. Chest computed tomography was performed on the 29th day of life revealing groundglass opacities, regular interlobular septal thickening and fine interlobular reticulations. Analysis of genomic DNA showed homozygosity for an extremely rare SFTPB gene variant (c.620A>G, p. Tyr207Cys). Both parents were heterozygotes for the mutation. The diagnosis of congenital SP-B deficiency should be suspected whenever an early and acute respiratory failure in a term or near-term infant does not resolve after five days of age: diagnostic confirmation can be easily and rapidly obtained with the analysis of genomic DNA. [ABSTRACT FROM AUTHOR]

This study aims to describe the molecular variability in the SFTPC gene in a childhood chronic respiratory disease, asthma, in the Tunisian population and to identify the implications based on a case-control study of p.Thr138Asn (T138N) and p.Ser186Asn (S186N) variants. We used direct sequencing for the genotyping of the SFTPC gene within 101 asthmatic children. The study of T138N and S186N variants in 110 controls is conducted by the PCR-RFLP technique. The molecular study revealed 26 variants including 24 intronic variations and 2 exonic variations (T138N and S186N) with respective frequencies of 16.8% and 18.3%. We conducted a case-control study of the two identified exonic variations. A different genotypic and allelic distribution between the two groups was noted. Only the T138N polymorphism showed a significant association with asthma disease (p < 1 0 −3). Statistical analysis elaborated four haplotypes with the following frequencies in patients vs controls: 138Thr-186Ser (79.5% vs 57.6%), 138Thr-186Asn (3.7% vs 7.8%), 138Asn-186Thr (2.2% vs 20.2%) and 138Asn-186Asn (14.6% vs 14.4%). A significant difference (p < 1 0 −3) was highlighted in haplotype distribution. The 138Asn-186Ser (OR [95%CI] = 0.14[0.04-0.54], p = 0.004, R2=0.93) and 138Thr-186Asn (OR [95%CI] = 0.35[0.12-0.54], p = 0.047, R2=0.88) haplotypes showed a negative association with asthma which may constitute a protective factor against the disease. In Tunisia, this work constitutes the first report interested in the SFTPC gene and highlights the genetic variability of the SFTPC gene in asthma. Therefore, the case-controls analysis may be useful in the study of surfactant proteins dysfunction in chronic respiratory disease at an early age. [ABSTRACT FROM AUTHOR]

Background: Pesticide poisoning is very common in Tunisia. Various factors are involved in the analysis of the clinical presentations and the severity of this condition. Major factors are the chemical nature of the pesticides and the quantity entered the body. Methods: This is a retrospective study, reporting the pediatric cases that presented to us with signs and symptoms of pesticide poisoning. Fifty cases pesticide poisoning were admitted to the hospital between January 2013 and October 2016. Results: A total of 50 pediatric cases were included in this study with the mean age of 3 years and 4months. The poisoning was accidental in 49 cases and self-inflicted in one, with the mode being oral (N=45), respiratory (N=2) and cutaneous (N=3). The average duration of hospital care for these patients was 2 hours and 30 minutes (range: 30 min-24 hr). The clinical manifestations of poisoning noted were due to muscarinic and nicotinic receptors inhibition. Upon clinical examination, 29 patients had no pesticide in the gastric lavage fluid and urine and demonstrated no abnormal cholinesterase activity. The therapeutic management was mainly symptomatic with antidote medications prescribed (atropine and oxime). All patients had favorable outcomes and no death occurred. Conclusion: This study demonstrated the frequency of pesticide poisoning in a pediatric setting and the importance of early management. Optimal therapeutic approaches were evaluated, demonstrating that prevention still remains the best solution in such cases. [ABSTRACT FROM AUTHOR]

Introduction: Parents' knowledge is an integral part of healthcare quality, impacting treatment adherence, patient loyalty and healthcare utilisation in pediatric asthma. Parental knowledge is particularly crucial as parents influence decision-making for their child's healthcare., Aim: To assess parents' knowledge and perceptions of their children's asthma and to identify areas for weakness in therapeutic education., Methods: This is transversal survey study based on validated and translated self-administered questionnaire (Arabic asthma knowledge questionnaire AAKQ). The study was conducted in 2 departments: pediatric primary care department at Elomrane and pediatric pneumology outpatient clinics at Bechir Hamza children's hospital of Tunis during 6 months (March2022- October2022)., Results: One hundred forty-four parents were involved in the study. Most of the participants were mothers. The mean age was 38 years. Only 27,0% had higher education and smoking in parents was observed in 58% of cases. Our results showed moderate knowledge in 67,9% of participants. The mean of the total knowledge score was 57,7/85. Forty-six per cent of parents had poor knowledge for the first category of the questionnaire. The second category was the most successful part where only 14% had poor knowledge. The mean score of the third category was 13,5/20 with 35,4% of parents having poor knowledge. The mean of total knowledge was found to be higher among participants with higher education (P=0,000), when the gender of the child is masculine (P=0,038), when the parents were asked in Hospital of children of Tunis (P=0,003) and when there is a history of asthma in the siblings (P=0,05). No difference in caregiver's knowledge was based on their age or gender or history of asthma, on the age of the child, his hospitalization for asthma, his asthma control level or his compliance with medication., Conclusion: Knowledge of parents and their children suffering from asthma is acceptable but insufficient. An approach focusing on improving patient education skills is needed to help families understand and accept the disease and achieve optimal control.