Knowledge, attitude, and ethical concepts of Sudanese medical students regarding stem cells and its application.

One of the major challenges that stem cell transplantation faces is a lack of donors due to a lack of knowledge and awareness of the importance of stem cell transplantation, this implies that health care providers should arm themselves with sufficient knowledge to contribute positively to raising awareness. This is an analytical cross-sectional study of 1040 medical students from 10 universities from various Sudanese states, through an online self-administered pre-tested and structured questionnaire formulated by the authors with a particular focus and/or reflection on the knowledge and attitudes of medical students. The median knowledge score among all students was 8.0 (6-9) with the majority of students confirming that stem cells are capable of dividing and can self-renew for a long period (88.6%). Regarding attitude, the median score among the participants was 23 (17-27) with (47.9%) agreeing that competency in stem cell knowledge is important for them as future health care providers. In terms of ethical attitude; the majority of the students (59, 2%) think there's a need to obtain ethical approval before conducting research. Moreover, (45.9%) of students believe that health practitioners have the right to use stem cells in treatments if those treatments have been scientifically proven to be effective on animals and on human cells in the laboratory. It is important to promote educational programs that inform medical students about the full range of possibilities offered by stem cell research. Furthermore, more studies is required to determine how society and religion affect medical students' attitudes toward stem cells.

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.

Statistics for undergraduate medical students in Sudan: associated factors for using statistical analysis software and attitude toward statistics among undergraduate medical students in Sudan.

INTRODUCTION: Statistics helps medical students understand research. Without understanding statistics, students can't choose the proper analysis in their research. We aimed to assess the attitude toward statistics, usage of statical software and associated factors for using statistical analysis software in Sudan. METHOD: A cross-sectional online survey was distributed among undergraduate medical students across ten Sudanese universities. The study aimed to measure their attitude towards statistics using Survey of Attitudes Toward Statistics (SATS-36) scale. RESULTS: In total, 489 students were participated with a mean age of 21.94 ± 1.61 and a slight female preponderance (52%, n = 256). The overall attitude towards statistics was 4.64 ± 0.91. The mean attitude scores for the components of SATS-36 scale was higher for students who were using statistical analysis software demonstrating significant difference in affect (p = 0.002), cognitive competence (p = 0.002), value (p = 0.002), Interest (p = 0.004) and Effort (p = 0.029). Almost half of the students (47%) had attended a biostatistics workshop with only 26% of them reported using statistical analysis software. Of the latter group, 72% (n = 91) used SPSS while 50% (n = 64) used excel. Univariate logistic regression showed students who had previously used an statistical software were more likely to be studying in their sixth year compared with second year (OR: 12.652, CI 95% 4.803- 33.332; p < 0.001), older age (OR: 1.224, CI 95% 1.079- 1.388; p = 0.002), attended a course in research methodology (OR: 3.383, CI 95% 2.120- 5.398; p < 0.001) or biostatistics (OR: 1.886, CI 95% 1.252- 2.841; p = 0.002), initiated or participated in a research project (OR:4.349, CI 95% 2.839 - 6.661;p < 0.001) or published a paper (OR: 8.271, CI 95% 3.542 - 19.312; p < 0.001). CONCLUSIONS: The study showed an average attitude towards statistics among medical students. Being at higher years, participating or publishing research and attending research workshop are associated with the usage of statistical software. Also, few students were using statistical software.

The effects of botulinum toxin A injection on the lateral pterygoid muscle in patients with a painful temporomandibular joint click: a randomized clinical trial study.

BACKGROUND: Temporomandibular disorder (TMD) is the main cause of non-dental pain in orofacial area. The most common symptoms of TMD are joint pain, joint sound and limitation of jaw function. Botulinum toxin (BTX) injection is considered a potential treatment for TMD due to its pain-relieving properties and its ability to reduce muscle activity. Most of the studies are case series and further investigations are required to prove the efficacy of this treatment modality. Thus, in this study, we aimed to investigate the effect of BTX-A injection on the lateral pterygoid (LP) muscle and to evaluate its efficacy regarding TMD. MATERIALS AND METHODS: Thirty-eight patients (19 women and 19 men; mean age of 26.53 years) with painful unilateral temporomandibular joint click and LP muscle tenderness were enrolled in this study. They were divided into two groups; one received an extraoral BTX-A injection in the LP muscle, and the other received a placebo injection. Pain severity, jaw movements, click severity, and Helkimo index were recorded at the first visit, as well as one week, one month, and three months after the intervention. Data were analyzed using repeated-measures analysis of variance and t-tests. RESULTS: The results showed that click severity was not significantly different between the BTX-A and placebo groups (P = 0.07). Pain and Helkimo index decreased significantly in the BTX group (P = 0.00 and P = 0.006, respectively); however, there was no significant difference between the two groups (P = 0.22 and P = 1, respectively). There was a significant difference in lateral movements between the groups (P = 0.00) but not in protrusive movement (P = 0.095). CONCLUSIONS: It can be concluded that although some studies have stated that BTX injection can make the click sound disappear, in this study, we did not find a significant difference between the two groups. Furthermore, our results showed that click and pain severity decreased, but the difference was not statistically significant. Therefore, further studies with a higher dosage of BTX and more participants are recommended. Trial registration The local Ethics Committee of Shiraz University of Medical Sciences approved this research (IR.SUMS.REC. 01/10/2018 and IRCT20130521013406N3).

Genetic diagnosis in Sudanese and Tunisian families with syndromic intellectual disability through exome sequencing.

BACKGROUND: Intellectual disability is a form of neurodevelopmental disorders that begin in childhood and is characterized by substantial intellectual difficulties as well as difficulties in conceptual, social, and practical areas of living. Several genetic and nongenetic factors contribute to its development; however, its most severe forms are generally attributed to single-gene defects. High-throughput technologies and data sharing contributed to the diagnosis of hundreds of single-gene intellectual disability subtypes. METHOD: We applied exome sequencing to identify potential variants causing syndromic intellectual disability in six Sudanese patients from four unrelated families. Data sharing through the Varsome portal corroborated the diagnosis of one of these patients and a Tunisian patient investigated through exome sequencing. Sanger sequencing validated the identified variants and their segregation with the phenotypes in the five studied families. RESULT: We identified three pathogenic/likely pathogenic variants in CCDC82, ADAT3, and HUWE1 and variants of uncertain significance in HERC2 and ATP2B3. The patients with the CCDC82 variants had microcephaly and spasticity, two signs absent in the two previously reported families with CCDC82-related intellectual disability. CONCLUSION: In conclusion, we report new patients with pathogenic mutations in the genes CCDC82, ADAT3, and HUWE1. We also highlight the possibility of extending the CCDC82-linked phenotype to include spastic paraplegia and microcephaly.

Pathogenic Variants in ABHD16A Cause a Novel Psychomotor Developmental Disorder With Spastic Paraplegia.

Introduction: Hereditary spastic paraplegia is a clinically and genetically heterogeneous neurological entity that includes more than 80 disorders which share lower limb spasticity as a common feature. Abnormalities in multiple cellular processes are implicated in their pathogenesis, including lipid metabolism; but still 40% of the patients are undiagnosed. Our goal was to identify the disease-causing variants in Sudanese families excluded for known genetic causes and describe a novel clinico-genetic entity. Methods: We studied four patients from two unrelated consanguineous Sudanese families who manifested a neurological phenotype characterized by spasticity, psychomotor developmental delay and/or regression, and intellectual impairment. We applied next-generation sequencing, bioinformatics analysis, and Sanger sequencing to identify the genetic culprit. We then explored the consequences of the identified variants in patients-derived fibroblasts using targeted-lipidomics strategies. Results and Discussion: Two homozygous variants in ABHD16A segregated with the disease in the two studied families. ABHD16A encodes the main brain phosphatidylserine hydrolase. In vitro, we confirmed that ABHD16A loss of function reduces the levels of certain long-chain lysophosphatidylserine species while increases the levels of multiple phosphatidylserine species in patient's fibroblasts. Conclusion: ABHD16A loss of function is implicated in the pathogenesis of a novel form of complex hereditary spastic paraplegia.

A heterozygous mutation in the CCDC88C gene likely causes early-onset pure hereditary spastic paraplegia: a case report.

BACKGROUND: CCDC88C is a ubiquitously expressed protein with multiple functions, including roles in cell polarity and the development of dendrites in the nervous system. Bi-allelic mutations in the CCDC88C gene cause autosomal recessive congenital hydrocephalus (OMIM #236600). Studies recently linked heterozygous mutations in CCDC88C to the development of the late-onset spinocerebellar ataxia type 40 (OMIM #616053). CASE PRESENTATION: A 48-year-old Sudanese female presented with pure early onset hereditary spastic paraplegia. Exome sequencing, in-silico analysis, and Sanger sequencing identified the heterozygous NM_001080414.4:c.1993G > A (p.E665K) variant in CCDC88C as a potential cause of her illness. To explore the pathogenicity of the NM_001080414.4:c.1993G > A (p.E665K) variant, we expressed it in human embryonic kidney 293 cells and assessed its effects on apoptosis. In our experiment, NM_001080414.4:c.1993G > A (p.E665K) induced JNK hyper-phosphorylation and enhanced apoptosis. In contrast to previous reports, our patient developed neurological symptoms in early childhood and showed neither features of cerebellar ataxia, extrapyramidal signs, nor evidence of intellectual involvement. CONCLUSION: We, herein, heighlighted the possibility of extending the phenotype associated with variants in CCDC88C to include early-onset pure hereditary spastic paraplegia.

Prevalence of Self-Medication with Antibiotics amongst Clients Referred to Outpatient University Dental Clinics in Iranian Population: A Questionnaire-Based Study.

Self-medication with antibiotics may increase the risk of inappropriate use and development of antibiotic-resistant bacteria. The aim of this study was to determine the prevalence of self-medication with antibiotics amongst dental outpatients in Iranian population. Methods and Materials: One thousand and two hundred of dentistry patients, who were referred to dental school clinics in ten major provinces of Iran, participated in this study. A valid self-administered questionnaire regarding self-medication with antibiotics in case of dental pain was used to collect data. Data were analysed using descriptive statistics and Logistic regression analysis. Results: In our study population, the prevalence of self-medication was 42.6%. Amongst the Iranian cities, the highest prevalence of self-medication with antibiotics belonged to the city of Bandar Abbas (64%) and the lowest was seen in the city of Kerman (27.3%). Men were more likely to take antibiotics. Amoxicillin was the mostly used antibiotic. Severe pain, previous self-medications and high costs of dental visits were the most common reasons for self-medication with antibiotics in the investigated population. In addition, the present study showed that marriage, acceptable financial status and high level of education could decrease self-medication with antibiotics. Conclusions: In the current investigation, an alarming fact was that self-medication for dental problems seemed very common amongst the studied population. One of its most important consequences was bacterial resistance. Therefore, there should be plans to promote and prioritize public health awareness and encourage general public's motivation to reduce the practice of self-medication.

Relationship between Bone Mineral Density and Oral Health Status among Iranian Women.

BACKGROUND: In the present research, we aimed to evaluate dental and periodontal condition in relation to bone mineral density (BMD), to determine the possible association between oral health status and bone density. METHODS: Fifty-nine women aged older than 30 years, who had BMD assessment, were enrolled in the study. They were given dental and periodontal examination by the means of oral hygiene index (OHI), periodontal disease index (PDI), and decayed, missing, and filled teeth (DMFT). Participants answered a questionnaire regarding oral hygiene condition, socio-economic status, and physical activity level. Their BMD using dual X-ray energy absorptiometry in femoral and spinal regions was also recorded. RESULT: In this research, there was a negative correlation between DMFT and T-score of spine and femur but not with Z-scores. There was no association found between PDI and T-scores or Z-scores for BMD (P > 0.05). In addition, there was a significant negative correlation between number of missing teeth and T-score of both femoral and spinal regions; however, such an association was not found with Z-scores. In addition, a strong positive correlation was observed between OHI and DMFT. CONCLUSIONS: This investigation suggests a negative association between bone mineral status and oral health condition regarding DMFT and number of missing teeth. It could be concluded that inadequate bone mass could coexist with higher number of missing teeth or a worse oral health condition; nevertheless, further studies are required to assess these relationships precisely.