Knowledge and practice about mycetoma infection among community pharmacists in Khartoum State: A descriptive cross-sectional study

Mycetoma is classified as a neglected tropical disease, and despite its spread in Sudan, most physicians and pharmacists do not pay attention to the symptoms and proper treatment of mycetoma. Thus, this study aimed to evaluate knowledge and practice on mycetoma among community pharmacists in Khartoum state. A cross-sectional descriptive study was carried out among community pharmacists in Khartoum state, in the period from August to October 2021. Data was collected from the seven localities within Khartoum state using a validated self-administered questionnaire. The knowledge and practice of community pharmacists were assessed, and their association with demographic characteristics was calculated. Out of 347 pharmacists, 59.9% were females, 64.8% were between 22 and 28 years of age, and 79.3% were bachelor holders. Most of the participants (52.7%) had sufficient knowledge about mycetoma, the most common source of information was lectures (36.6%), more than half participants heard about the Mycetoma Research Center, and most of the cases seen by the participants were in the community (30.5%). There was no association between demographic data and knowledge score, except for knowing about the Mycetoma Research Center and attending workshops and seminars. Moreover, more than half of the participants showed good practice with mycetoma patients. The findings of the current study reflect that more efforts are needed to increase the knowledge and improve the practice of community pharmacists toward mycetoma

Molecular Analysis of Congenital Hypothyroidism in Saudi Arabia:SLC26A7 Mutation Is a Novel Defect in Thyroid Dyshormonogenesis

Abstract Context Congenital hypothyroidism (CH) is the most common neonatal endocrine disorder, affecting one in 3000 to 4000 newborns. Since the introduction of a newborn screening program in 1988, more than 300 cases have been identified. The underlying genetic defects have not been systematically studied. Objective To identify the mutation spectrum of CH-causing genes. Methods Fifty-five patients from 47 families were studied by next-generation exome sequencing. Results Mutations were identified in 52.7% of patients (29 of 55) in the following 11 genes: TG, TPO, DUOX2, SLC26A4, SLC26A7, TSHB, TSHR, NKX2-1, PAX8, CDCA8, and HOXB3. Among 30 patients with thyroid dyshormonogenesis, biallelic TG mutations were found in 12 patients (40%), followed by biallelic mutations in TPO (6.7%), SLC26A7 (6.7%), and DUOX2 (3.3%). Monoallelic SLC26A4 mutations were found in two patients, one of them coexisting with two tandem biallelic deletions in SLC26A7. In 25 patients with thyroid dysgenesis, biallelic mutations in TSHR were found in six patients (24%). Biallelic mutations in TSHB, PAX 8, NKX2-1, or HOXB3 were found once in four different patients. A monoallelic CDCA8 mutation was found in one patient. Most mutations were novel, including three TG, two TSHR, and one each in DUOX2, TPO, SLC26A7, TSHB, NKX2-1, PAX8, CDCA8, and HOXB3. SLC26A7 and HOXB3 were novel genes associated with thyroid dyshormonogenesis and dysgenesis, respectively. Conclusions TG and TSHR mutations are the most common genetic defects in Saudi patients with CH. The prevalence of other disease-causing mutations is low, reflecting the consanguineous nature of the population. SLC26A7 mutations appear to be associated with thyroid dyshormonogenesis. </jats:sec