Awareness of Cardiovascular Disease Risk Factors by Community Pharmacists in Saudi Arabia

Background: Pharmacists in community settings are recognized as highly accessible healthcare practitioners and demonstrate a crucial role in the primary prevention of cardiovascular disease. Evidence indicates that community pharmacists can make a significant impact on controlling cardiovascular disease risk factors, particularly on hypertension. Objectives: We aimed to assess the knowledge of community pharmacists in Saudi Arabia regarding cardiovascular disease risk factors. Methods: A cross-sectional study involving community pharmacists was conducted. The knowledge of cardiovascular disease risk factors was assessed with the Heart Disease Fact Questionnaire (HDFQ). A web link for an anonymous questionnaire was shared with the licensed community pharmacists in Saudi Arabia using the “Seha” platform of the Ministry of Health. Data analysis was performed with R version 4.0.5. Results: Three hundred seventy-four community pharmacists responded to the questionnaire. Many community pharmacists (94.4%) had satisfactory awareness of cardiovascular disease risk factors. The odds of having satisfactory HDFQ knowledge for community pharmacists seeing more than 20 individuals with diabetes per month were 20 times (AOR = 19.9, 95% CI: 1.73–260, and p = 0.019) more compared to those seeing fewer than 10 individuals with diabetes per month. The age of the community pharmacists and the average number of individuals with diabetes seen per month were found to be factors associated with satisfactory HDFQ knowledge. Conclusion: The practicing pharmacists had a substantial understanding of cardiovascular disease risk factors. In line with counseling and education, the implementation of community pharmacy models for improving the knowledge of pharmacists, particularly the young pharmacists, is needed to effectively assist patients with cardiovascular disease

Modifier Genes in Microcephaly: A Report on WDR62, CEP63, RAD50 and PCNT Variants Exacerbating Disease Caused by Biallelic Mutations of ASPM and CENPJ

Congenital microcephaly is the clinical presentation of significantly reduced head circumference at birth. It manifests as both non-syndromic-microcephaly primary hereditary (MCPH)-and syndromic forms and shows considerable inter- and intrafamilial variability. It has been hypothesized that additional genetic variants may be responsible for this variability, but data are sparse. We have conducted deep phenotyping and genotyping of five Pakistani multiplex families with either MCPH (n = 3) or Seckel syndrome (n = 2). In addition to homozygous causal variants in ASPM or CENPJ, we discovered additional heterozygous modifier variants in WDR62, CEP63, RAD50 and PCNT-genes already known to be associated with neurological disorders. MCPH patients carrying an additional heterozygous modifier variant showed more severe phenotypic features. Likewise, the phenotype of Seckel syndrome caused by a novel CENPJ variant was aggravated to microcephalic osteodysplastic primordial dwarfism type II (MOPDII) in conjunction with an additional PCNT variant. We show that the CENPJ missense variant impairs splicing and decreases protein expression. We also observed centrosome amplification errors in patient cells, which were twofold higher in MOPDII as compared to Seckel cells. Taken together, these observations advocate for consideration of additional variants in related genes for their role in modifying the expressivity of the phenotype and need to be considered in genetic counseling and risk assessment