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- Bakhit, Yousuf, et al.
(author)
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Intrafamilial and interfamilial heterogeneity of PINK1-associated Parkinson's disease in Sudan
- 2023
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In: Parkinsonism & Related Disorders. - : Elsevier. - 1353-8020 .- 1873-5126. ; 111
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Journal article (peer-reviewed)abstract
- PINK1 is the second most predominant gene associated with autosomal recessive Parkinson's disease. Homo-zygous 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 het-erogeneity 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.
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| 2. |
- Eltom, Mohamed A., et al.
(author)
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Increasing prevalence of type 2 diabetes mellitus and impact of ethnicity in north Sudan
- 2018
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In: Diabetes Research and Clinical Practice. - : ELSEVIER IRELAND LTD. - 0168-8227 .- 1872-8227. ; 136, s. 93-99
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Journal article (peer-reviewed)abstract
- Background: Diabetes mellitus constitutes a global health threat, with increasing burden of disease in low and middle-income countries witnessing ongoing epidemiological transition including Sudan.Aims: To study the prevalence of type 2 diabetes mellitus (T2DM) and prediabetes and determine the relationship to gender, age, waist circumference, body mass index, residence and ethnicity among the adult population in north Sudan.Methods: A cross-sectional, population-based study in Northern State and River Nile State using random multi-stage cluster sampling targeting 5376 participants from 14 localities divided into 60 urban and 40 rural clusters. In each cluster, 60 households were studied. Blood glucose level and anthropometric measurements were recorded and a questionnaire containing demographic data was obtained from each participant.Results: The prevalence of T2DM among participants was 18.7% and prediabetes was 12.9%. Among people living with T2DM, 694(71.0%) were known cases of T2DM, whereas 284 (29.0%) were newly diagnosed cases. The significant associated risk factors for T2DM included urban residence (AOR 1.23, 95% CI 1.09-1.41), age above 60 years (AOR 4.77, 95% CI 4.04-5.63), obese BMI (AOR 1.26, 95% CI 1.03-1.55) and central obesity (AOR 1.39, 95% CI 1.14-1.68). Compared to indigenous population, individuals of Egyptian descents (AOR 1.28, 95% CI 1.04-1.57) and mixed origin (AOR 1.24, 95% CI 1.04-1.48) had increased risk of T2DM.Conclusion: The prevalence of T2DM and prediabetes in north Sudan have increased significantly since 1996 with variations between ethnicities which showed to be an independent risk factor for T2DM. Health authorities are recommended to set plans to meet the health needs of these communities.
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| 4. |
- Abdelgadir, Moawia, et al.
(author)
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Health related quality of life and sense of coherence in Sudanese diabetic subjects with lower limb amputation
- 2009
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In: Tohoku journal of experimental medicine. - : Tohoku University Medical Press. - 0040-8727 .- 1349-3329. ; 217:1, s. 45-50
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Journal article (peer-reviewed)abstract
- Quality of life is an important outcome measure in diabetic patients with lower limb amputation (LLA). The aim of this study was to investigate the influence of lower limb amputation on health-related quality of life (HRQOL) in Sudanese diabetic subjects. Additionally the Sense of Coherence scale (SOC-13) and a symptom check list was used in subjects with LLA. A total of 60 (M/F; 40/20) diabetic subjects with LLA and 60 (M/F; 23/37) diabetic reference subjects without LLA, were studied. For both groups HRQOL was measured using The Medical Outcomes Study questionnaire (MOS). Subjects with LLA had significantly poorer HRQOL compared to the reference group in most HRQOL domains (p < 0.0001). Duration of diabetes had the greatest negative impact on HRQOL in both groups, those with LLA (p < 0.0001), and in those without LLA (p < 0.0001), although subjects who were amputated earlier had poorer HRQOL than recently amputated (p < 0.0001). Higher SOC scores were recorded in LLA patients who have greater ratings of positive feelings, family satisfaction and sleep in the HRQOL examination (p < 0.0001). In conclusion, Sudanese diabetic subjects with LLA have a poor quality of life. The triad of diabetes duration, symptoms and amputations, has turned to be important risk factor for poorer HRQOL. Functional and mobility status were suggested to be an important determinant of HRQOL among this population. As the Sudanese population has coherent social relationships, this poor performance of the diabetic subjects will certainly increase the burden on the whole family, in both integrity and economical status. Nevertheless, these deep-rooted social interrelations together with increasing diabetes awareness have substantially improved the family satisfaction among our patients.
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| 6. |
- Abdelgadir, Moawia, et al.
(author)
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The influence of glucose self-monitoring on glycaemic control in patients with diabetes mellitus in Sudan
- 2006
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In: Diabetes Research and Clinical Practice. - : Elsevier BV. - 0168-8227 .- 1872-8227. ; 74:1, s. 90-94
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Journal article (peer-reviewed)abstract
- Objective: To investigate the influence of self-monitoring of glucose on the glycaemic control in Sudanese diabetic subjects. Subjects and methods: A group of 193 consecutive type 2 and type I diabetic subjects (95 men, 98 women) were studied. In 104 subjects with type 2 diabetes fasting blood glucose was measured using a glucose meter and blood was obtained for serum glucose measurement in the laboratory. In the remaining 89 diabetic subjects random blood glucose was measured using the same glucose meter and a whole blood sample was drawn for laboratory assessment of HbA1c. Data on self-monitoring and other clinical and personal characteristics were recorded. Results: More than 75% of either type I and type 2 diabetic patients never self-monitored blood or urine glucose. In type 2 diabetic subjects self-monitoring of blood or urine glucose was not related to glycaemic control. In type I diabetic subjects, however, self-monitoring of blood glucose was significantly associated with better glycaemic control, as assessed by HbA1c (P = 0.02) and blood glucose at clinic visits (P < 0.0001), and similar associations were found for urine glucose self-monitoring (P = 0.04 and 0.02) respectively. Neither glycaemic control nor glucose self-monitoring was associated with education level. Conclusions: Self-monitoring of blood glucose was not found to be associated to better glycaemic control in Sudanese subjects with type 2 diabetes. In contrast, self-monitoring of both blood and urine glucose was significantly associated with glycaemic control in subjects with type I diabetes. Self-monitoring of urine glucose could be useful where measurement of blood glucose is not available or affordable.
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| 7. |
- Bakhit, Yousuf, et al.
(author)
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PLA2G6-associated late-onset parkinsonism in a Sudanese family
- 2023
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In: Annals of Clinical and Translational Neurology. - : John Wiley & Sons. - 2328-9503. ; 10:6, s. 983-989
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Journal article (peer-reviewed)abstract
- IntroductionThe phospholipase A2 group VI gene (PLA2G6) encodes an enzyme that catalyzes the hydrolytic release of fatty acids from phospholipids. Four neurological disorders with infantile, juvenile, or early adult-onset are associated with PLA2G6 genetic alterations, namely infantile neuroaxonal dystrophy (INAD), atypical neuroaxonal dystrophy (ANAD), dystonia-parkinsonism (DP), and autosomal recessive early-onset parkinsonism (AREP). Few studies in Africa reported PLA2G6-associated disorders and none with parkinsonism of late adult onset.Material and MethodsThe patients were clinically assessed following UK Brain Bank diagnostic criteria and International Parkinson and Movement Disorder Society's Unified Parkinson's Disease Rating Scale (MDS-UPDRS). Brain MRI without contrast was performed. Genetic testing was done using a custom-made Twist panel, screening 34 known genes, 27 risk factors, and 8 candidate genes associated with parkinsonism. Filtered variants were PCR-amplified and validated using Sanger sequencing and also tested in additional family members to study their segregation.ResultTwo siblings born to consanguineous parents developed parkinsonism at the age of 58 and 60 years, respectively. MRI showed an enlarged right hippocampus in patient 2, but no overt abnormalities indicative of INAD or iron deposits. We found two heterozygous variants in PLA2G6, an in-frame deletion NM_003560:c.2070_2072del (p.Val691del) and a missense variant NM_003560:c.956C>T (p.Thr319Met). Both variants were classified as pathogenic.ConclusionThis is the first case in which PLA2G6 is associated with late-onset parkinsonism. Functional analysis is needed to confirm the dual effect of both variants on the structure and function of iPLA2β.
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