RESUMO
BACKGROUND: This study aimed to assess sleep medicine physicians' knowledge and attitudes toward the role of oral appliances (OAs) in managing obstructive sleep apnea (OSA) in Saudi Arabia. METHODS: An online questionnaire was administered to the registered physicians practicing sleep medicine (otolaryngology, internal medicine, pulmonology, and family medicine) in Saudi Arabia. The questionnaire included 26 questions under five domains. All the collected data were analyzed using descriptive statistics and Chi-square tests. RESULTS: One hundred sleep physicians (43% Saudi, 75% male) from Saudi Arabia participated in this study. Almost 43% of participants reported inadequate knowledge of the treatment of OSA patients using OAs. Half of the participants were unaware of how OAs work in managing OSA. Most physicians (62%) never referred the patient for treatment of OSA using OAs, whereas 4% referred at least one patient every month. The majority (60%) believed that there are barriers to referring a case for OA treatment, mainly the lack of knowledge of the suitable cases (60%) and the lack of qualified dentists in this area (43%). CONCLUSION: Most sleep physicians reported poor knowledge of OA indications and mechanism of use, with most never referring a case for OA therapy.
RESUMO
BACKGROUND: Orofacial clefts are considered one of the most common birth defects and are frequently associated with other malformations. Congenital heart disease is one of the most prevalent congenital malformation. OBJECTIVE: To investigate the prevalence of congenital heart diseases associated with non-syndromic orofacial clefts in the Saudi population. METHODS: Electronic files of non-syndromic orofacial cleft patients who visited the Oral and Maxillofacial Surgery Department in King Abdulaziz Medical City of Riyadh, Saudi Arabia from January 2015 to December 2018 were retrospectively reviewed. Data were recorded in an excel sheet and analyzed using SPSS via frequency tests. RESULTS: In the cleft children identified, the prevalence of non-syndromic orofacial clefts was (77%). Orofacial clefts showed a male predominance (62%). The most common orofacial phenotype was unilateral cleft lip and palate (34%). The prevalence of associated congenital malformations with orofacial clefts was (41%). The most prevalent congenital malformation was congenital heart disease (35%), mainly found in unilateral cleft lip and palate patients (33%). The prevalence of associated congenital heart disease with orofacial clefts was (19%). The most frequent type of congenital heart disease was atrial septal defect (37%). CONCLUSION: This study highlights the recognition of the associated congenital heart disease with non-syndromic orofacial cleft patients. Global screening protocols designed for newborns with non-syndromic orofacial cleft are needed to eliminate late diagnosis of critical congenital heart diseases which might present operative risks of anesthesia and/or surgical procedures.
RESUMO
Congenital protein C deficiency is an inherited coagulation disorder associated with an elevated risk of venous thromboembolism. A Saudi Arabian male from a consanguineous family was admitted to neonatal intensive care unit in his first days of life because of transient tachypnea and hematuria. Laboratory investigations determined low platelet and protein C deficiency. Direct sequencing of PROC gene and RNA analysis were performed. Analysis of factor V Leiden (G1691A) and factor II (G20210A) mutations was also done. Novel homozygous splice site mutation c.796+3A>T was detected in the index case and segregation was confirmed in the family. RNA analysis revealed the pathogenicity of the mutation by skipping exon 8 of PROC gene and changing the donor splice site of the exon. Detection of the molecular cause of protein C deficiency reduces life threatening and facilitates inductive carrier testing, prenatal and preimplantation genetic diagnosis for families.
