Knowledge and attitudes towards cervical cancer prevention among women in Khartoum state, Sudan.

BACKGROUND: Cervical cancer is considered the third leading cause of death among women worldwide, and human papillomavirus was identified as a major causative agent for developing cervical cancer. OBJECTIVES: This study aimed to assess the knowledge and attitudes towards cervical cancer prevention among women in Khartoum state, Sudan. DESIGN: A community-based cross-sectional study implemented in Khartoum state, Sudan, from 1 August 2020 to 1 September 2020. METHODS: We conducted a descriptive cross-sectional community-based study using an electronic questionnaire for data collection. Descriptive statistics, frequency, mean, and percentage were computed. RESULTS: The study included 716 female participants with a mean age of 27.6 + 8.7 years. 580 (81.0%) and 229 (32.0%) had heard about cervical cancer and Pap test, respectively. cervical cancer was assumed related to alcohol consumption 109 (15.2%), giving birth to many children 51 (7.1%), ageing 118 (16.5%), and having many sexual partners 335 (46.8%). In addition, 300 (41.9%) attributed cervical cancer to having human papillomavirus infection, 256 (35.6%) to the prolonged use of contraceptives, and 162 (22.6%) to smoking. Knowledge about the best time to be vaccinated against human papillomavirus, 110 (15.4%) stated it is better after marriage. Regression models to predict the effectors on participants' knowledge and attitudes showed a low standard deviation of the estimates with higher values of the adjusted R2 [R: 0.041, 0.017, and 0.006; std: 1.527, 0.417, and 0.426]. This indicates the combined influence of occupation, educational level, family income, and marital status on the participant's knowledge and attitude levels. CONCLUSION: This study revealed that the participant's knowledge and attitudes levels are mainly driven by their occupation, educational level, family income, and marital status altogether. This underscores the need for a countrywide community engagement campaign through health education and raising awareness sessions, and massive social media to sensitize the community and healthcare providers about the risk of cervical cancer and the available prevention and control measures.

Clinical phenotyping and genetic diagnosis of a large cohort of Sudanese families with hereditary spinocerebellar degenerations.

Hereditary spinocerebellar degenerations (SCDs) is an umbrella term that covers a group of monogenic conditions that share common pathogenic mechanisms and include hereditary spastic paraplegia (HSP), cerebellar ataxia, and spinocerebellar ataxia. They are often complicated with axonal neuropathy and/or intellectual impairment and overlap with many neurological conditions, including neurodevelopmental disorders. More than 200 genes and loci inherited through all modes of Mendelian inheritance are known. Autosomal recessive inheritance predominates in consanguineous communities; however, autosomal dominant and X-linked inheritance can also occur. Sudan is inhabited by genetically diverse populations, yet it has high consanguinity rates. We used next-generation sequencing, genotyping, bioinformatics analysis, and candidate gene approaches to study 90 affected patients from 38 unrelated Sudanese families segregating multiple forms of SCDs. The age-at-onset in our cohort ranged from birth to 35 years; however, most patients manifested childhood-onset diseases (the mean and median ages at onset were 7.5 and 3 years, respectively). We reached the genetic diagnosis in 63% and possibly up to 73% of the studied families when considering variants of unknown significance. Combining the present data with our previous analysis of 25 Sudanese HSP families, the success rate reached 52-59% (31-35/59 families). In this article we report candidate variants in genes previously known to be associated with SCDs or other phenotypically related monogenic disorders. We also highlight the genetic and clinical heterogeneity of SCDs in Sudan, as we did not identify a major causative gene in our cohort, and the potential for discovering novel SCD genes in this population.

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.

Knowledge, attitudes, and practices of caregivers of children with epilepsy in Sudan.

OBJECTIVE: To explore the knowledge, attitudes, and practices of caregivers of children with epilepsy. METHODS: This cross-sectional study included 107 consecutive caregivers of children diagnosed with epilepsy, attending the neurology outpatient clinic in a Pediatric tertiary university hospital, in Khartoum, Sudan for regular check-up. Data were obtained by an interviewer through a structured questionnaire, while clinical parameters of children with epilepsy were taken from medical records. RESULTS: Most respondents knew that epilepsy is not an infectious disease (92.5%), while the least proportion of caregivers (41.1%) knew that epilepsy did not emanate from a supernatural origin. The majority of caregivers were with the idea that epilepsy caused lost opportunities for study (66.4%) and that epilepsy was looked upon negatively by others (64.5%). Less than half (39.7%) of these caregivers rolled their child on to the side during a seizure, and more than a third (37.2%) admitted to sprinkling water over the child during his/her seizure. Caregivers' of children with Generalized Tonic-Clonic (GTC) convulsions, reported significantly lower knowledge scores than caregivers whose children did not experience GTC seizures (p = 0.016). Caregivers of children with GTC seizures were more likely to believe epilepsy was for the most part hereditary (p = 0.006), and that children with epilepsy lost consciousness during a seizure (p < 0.001). CONCLUSION: Our findings suggest that caregivers require periodic epilepsy-related educational programs. This study is an invaluable tool for tailoring the delivery of information and support resources for caregivers in our region.

Prevalence of epilepsy in 74,949 school children in Khartoum State, Sudan.

BACKGROUND: Data on childhood epilepsy in Sudan are scarce and the only published study on its prevalence was published in 1983. This study aimed to determine the current prevalence of epilepsy in school children in Khartoum State. METHODS: This is an analytical population-based, cross-sectional study conducted in Khartoum State, Sudan. The study included students in the basic (primary) schools aged 6-14 years. Simple random sampling was used to draw a cluster of four of the seven localities comprising Khartoum State. The sample frame consisted of 1609 public schools (808,624 pupils) and 787 private schools (194,613 pupils), a total of 2396 schools (1,003,237 pupils). A sample size of 75 940 pupils was estimated and 250 schools were drawn from a sample frame of 2396 schools using a stratified random sampling technique. Consent was obtained from the headmaster/head teacher of the selected schools who arranged a meeting with the tutor/teacher responsible for each class. The study team asked whether any of the pupils was ever noticed or known to have had any kind of seizures, and a confidential letter was sent to the parents of each identified pupil. The letter included an explanation of the aims of the study, information on the research group and the kind of help the research group could offer; contact numbers and email addresses were made available if they wished to participate in this study. Those who consented to participate were then given an appointment at the Epilepsy Outpatient Department, Gaafar Ibnauf Children's Hospital, Khartoum where they were evaluated by the paediatric neurologist. RESULTS: Altogether, 74,949 pupils were enrolled for the study, 398 of whom were identified initially as having seizures and 332 of whom (83.4%) were identified by a paediatric neurologist. Of the 332, 303 (91.3%) proved to have epileptic seizures, 250 (82.5%) were known to have epilepsy, and 53 (17.5%) were newly diagnosed during the survey. The male to female ratio was 1.5:1. The total prevalence of epilepsy in Khartoum State was estimated to be 4/1000. The highest prevalence was in Jabal Awliya Locality (4.87/1000) and the lowest was in Khartoum Locality (3.35/1000). Twenty-nine (8.7%) patients proved to have non-epileptic seizures. The majority (15, 51.6%) had psychogenic non-epileptic seizures, and four (13.6%) had syncope. The majority (171, 56.43%) of patients had generalised epilepsy, 109 (35.97%) had focal epilepsy, and 23 (7.6%) had unclassified epilepsy. CONCLUSION: The prevalence of epilepsy in school children in Khartoum State (4/1000) is higher than that reported previously from Khartoum Province in 1983 (0.9/1000).

Hereditary spastic paraplegias: identification of a novel SPG57 variant affecting TFG oligomerization and description of HSP subtypes in Sudan.

Hereditary spastic paraplegias (HSP) are the second most common type of motor neuron disease recognized worldwide. We investigated a total of 25 consanguineous families from Sudan. We used next-generation sequencing to screen 74 HSP-related genes in 23 families. Linkage analysis and candidate gene sequencing was performed in two other families. We established a genetic diagnosis in six families with autosomal recessive HSP (SPG11 in three families and TFG/SPG57, SACS and ALS2 in one family each). A heterozygous mutation in a gene involved in an autosomal dominant HSP (ATL1/SPG3A) was also identified in one additional family. Six out of seven identified variants were novel. The c.64C>T (p.(Arg22Trp)) TFG/SPG57 variant (PB1 domain) is the second identified that underlies HSP, and we demonstrated its impact on TFG oligomerization in vitro. Patients did not present with visual impairment as observed in a previously reported SPG57 family (c.316C>T (p.(Arg106Cys)) in coiled-coil domain), suggesting unique contributions of the PB1 and coiled-coil domains in TFG complex formation/function and a possible phenotype correlation to variant location. Some families manifested marked phenotypic variations implying the possibility of modifier factors complicated by high inbreeding. Finally, additional genetic heterogeneity is expected in HSP Sudanese families. The remaining families might unravel new genes or uncommon modes of inheritance.