Intrafamilial and interfamilial heterogeneity of PINK1-associated Parkinson's disease in Sudan.

PINK1 is the second most predominant gene associated with autosomal recessive Parkinson's disease. Homozygous mutations in this gene are associated with an early onset of symptoms. Bradykinesia, tremors, and rigidity are common features, while dystonia, motor fluctuation, and non-motor symptoms occur in a lower percentage of cases and usually respond well to levodopa. We investigated 14 individuals with parkinsonism and eleven symptom-free siblings from three consanguineous Sudanese families, two of them multigenerational, using a custom gene panel screening 34 genes, 27 risk variants, and 8 candidate genes associated with parkinsonism. We found a known pathogenic nonsense PINK1 variant (NM_032409.3:c.1366C>T; p.(Gln456*)), a novel pathogenic single base duplication (NM_032409.3:c.1597dup; p.(Gln533Profs*29)), and another novel pathogenic insertion (NM_032409.3:c.1448_1449ins[1429_1443; TTGAG]; p.(Arg483Serfs*7)). All variants were homozygous and co-segregated in all affected family members. We also identified intrafamilial and interfamilial phenotypic heterogeneity associated with PINK1 mutations in these Sudanese cases, possibly reflecting the nature of the Sudanese population that has a large effective population size, which suggests a higher possibility of novel findings in monogenic and polygenic diseases in Sudan.

Methylation of alpha-synuclein in a Sudanese cohort.

BACKGROUND: Several studies suggested a significant role of epigenetic changes, including alterations in miRNA, histone modifications, and DNA methylation of α-synuclein (SNCA) in Parkinson's disease (PD) pathogenicity. As of yet, only very few studies have been carried out in this field in Africa and none in Sudan. MATERIALS AND METHODS: We collected DNA from 172 Sudanese individuals (90 cases, 82 controls) who donated saliva for DNA extraction (mean age of onset: 40.6 ± 22.4 years). A family history of PD was evident in 64 patients. DNA preparation and bisulfite sequencing of SNCAintron1 was performed as described earlier. RESULTS: Of the fourteen analyzed CpGs of SNCAintron1, CpGs 16-23 were hypomethylated in PD (P-value ranged from 0.023 to 0.003). P-values improved, when sporadic cases were excluded from the analysis. CONCLUSION: We identified the presence of a specific pattern of DNA methylation in a young Sudanese cohort of familial PD, which confirms the importance of the methylation of SNCAintron1 for PD. This phenomenon appears to be independent of ethnicity, the impact of environmental factors, drug history, or familial clustering.

The Use of the Situation, Background, Assessment, and Recommendation (SBAR) Form as a Tool for Handoff Communication in the Pediatrics Department in a Sudanese Teaching Hospital.

PURPOSE:  Patient care transitions between healthcare providers are common in hospitals -- this project aimed to audit the use of Situation, Background, Assessment, and Recommendation (SBAR)-based handoff communication tool in the handoff process. MATERIALS AND METHODS: This prospective audit was conducted at Ribat Teaching Hospital, Khartoum, Sudan. All handoff communications of pediatric inpatients who required close monitoring during the study period were included. Two cycles of data collection were conducted, each spanning a duration of two weeks. The data, whether in the first or second cycle, were collected using a checklist document containing the items of the SBAR form. After the end of the first cycle, regular training sessions about the content and importance of the SBAR form were conducted for one week. Additionally, doctors' perception regarding the form was assessed. RESULTS: Some 48 doctors participated in this study, 29 females and 19 males. In the first cycle, the percentages of filled SBAR form components were as follows: Situation 7%, Background 0.00%, Assessment 0.00%, and Recommendation 0.00%. After conducting training sessions, the second cycle assessment was done and it showed improvement in all form components: Situation 88.8%, Background 83.6%, Assessment 66.3%, and Recommendation 69.5%. Regarding the doctors' perception assessment, the majority reported the usefulness of the SBAR form in patients' safety, physicians' communication, and accountability. CONCLUSION: The SBAR form is a simple and effective tool for improving communication; it helps doctors capture all relevant patient information. Most importantly, the majority of doctors were satisfied with the use of this tool for handoff communication.

Prevalence and risk factors of Hantavirus infection in patients undergoing hemodialysis in Khartoum, Sudan, in 2019: a cross-sectional study.

BACKGROUND: Hantaviruses are enveloped negative sense RNA viruses that cause hemorrhagic fever with renal syndrome. This study aimed to identify the prevalence of Hantavirus IgG antibodies and possible risk factors for Hantaviruses infections among end-stage renal disease (ESRD) patients attending the Dr Salma dialysis center in Sudan. METHODOLOGY: This was a cross-sectional study in which 91 ESRD patients and 30 healthy plasma samples were screened for Hantavirus IgG antibodies using ELISA. A questionnaire containing sociodemographics, history of rat exposure and clinical data information was filled in by each ESRD patient. RESULTS: In this study, 9 out of 91 ESRD patients (9.9%) tested positive for Hantaviruses antibodies (IgG) while none of the 30 healthy plasma samples showed seropositivity. There was no statistically significant association between age, gender, educational level and rat exposure and Hantavirus infection in ESRD patients (p>0.05). CONCLUSION: This study is the first to be conducted in Sudan regarding Hantaviruses and ESRD. The prevalence of Hantavirus antibodies among ESRD patients is high compared with findings reported in the literature from studies conducted on the same group of patients. It points to an interesting question as to whether Hantaviruses have an association with ESRD but further studies are needed before drawing any conclusions.

LC-MS/MS Tandem Mass Spectrometry for Analysis of Phenolic Compounds and Pentacyclic Triterpenes in Antifungal Extracts of Terminalia brownii (Fresen).

Decoctions and macerations of the stem bark and wood of Terminalia brownii Fresen. are used in traditional medicine for fungal infections and as fungicides on field crops and in traditional granaries in Sudan. In addition, T. brownii water extracts are commonly used as sprays for protecting wooden houses and furniture. Therefore, using agar disc diffusion and macrodilution methods, eight extracts of various polarities from the stem wood and bark were screened for their growth-inhibitory effects against filamentous fungi commonly causing fruit, vegetable, grain and wood decay, as well as infections in the immunocompromised host. Ethyl acetate extracts of the stem wood and bark gave the best antifungal activities, with MIC values of 250 µg/mL against Nattrassia mangiferae and Fusarium verticillioides, and 500 µg/mL against Aspergillus niger and Aspergillus flavus. Aqueous extracts gave almost as potent effects as the ethyl acetate extracts against the Aspergillus and Fusarium strains, and were slightly more active than the ethyl acetate extracts against Nattrassiamangiferae. Thin layer chromatography, RP-HPLC-DAD and tandem mass spectrometry (LC-MS/MS), were employed to identify the chemical constituents in the ethyl acetate fractions of the stem bark and wood. The stem bark and wood were found to have a similar qualitative composition of polyphenols and triterpenoids, but differed quantitatively from each other. The stilbene derivatives, cis- (3) and trans- resveratrol-3-O-ß-galloylglucoside (4), were identified for the first time in T. brownii. Moreover, methyl-(S)-flavogallonate (5), quercetin-7-ß-O-di-glucoside (8), quercetin-7-O-galloyl-glucoside (10), naringenin-4'-methoxy-7-pyranoside (7), 5,6-dihydroxy-3',4',7-tri-methoxy flavone (12), gallagic acid dilactone (terminalin) (6), a corilagin derivative (9) and two oleanane type triterpenoids (1) and (2) were characterized. The flavonoids, a corilagin derivative and terminalin, have not been identified before in T. brownii. We reported earlier on the occurrence of methyl-S-flavogallonate and its isomer in the roots of T. brownii, but this is the first report on their occurrence in the stem wood as well. Our results justify the traditional uses of macerations and decoctions of T. brownii stem wood and bark for crop and wood protection and demonstrate that standardized extracts could have uses for the eco-friendly control of plant pathogenic fungi in African agroforestry systems. Likewise, our results justify the traditional uses of these preparations for the treatment of skin infections caused by filamentous fungi.