11 research outputs found

    TOR1A mutation-related isolated childhood-onset generalised dystonia in South Africa

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    Background. Childhood-onset generalised dystonia is commonly caused by TOR1A mutations and is known to respond well to pallidal deep-brain stimulation (DBS) surgery. The incidence and prevalence of monogenic dystonia in individuals from Africa and specifically of African ancestry are unknown, and no local cases of TOR1A mutation dystonia are found in the literature.Objectives. To describe our experience with the outcome of TOR1A mutation-positive patients with isolated generalised dystonia (IGD) of childhood onset who were treated with pallidal DBS.Methods. All patients with TOR1A mutations from Steve Biko Academic Hospital and the Pretoria Neurology Institute in Pretoria, South Africa (SA), who underwent DBS for IGD of childhood onset were identified. We conducted a retrospective analysis of their demographics, clinical presentation and time to generalisation, genetic status and family history, and response to DBS treatment of the internal segment of the globus pallidus (GPi), utilising pre- and post-surgical scores of the United Dystonia Rating Scale (UDRS).Results. Three patients, all of black African ancestry, were identified. The median age at onset was 12 years and the median time to surgery from dystonia generalisation was 3 years. Two children presented with cervical-onset dystonia. Two patients were related, representing the only two with a positive family history. All three patients had a positive outcome after surgery, with improvement of 67 - 90% on the UDRS recorded at last follow-up.Conclusions. TOR1A mutations are found in SA patients of black African ancestry, with age of onset and generalisation comparable to those described in international studies. However, onset with cervical dystonia was more common than previously reported. Response to GPi DBS was excellent in all patients.

    TOR1A mutation-related isolated childhood-onset generalised dystonia in South Africa

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    BACKGROUND : Childhood-onset generalised dystonia is commonly caused by TOR1A mutations and is known to respond well to pallidal deep-brain stimulation (DBS) surgery. The incidence and prevalence of monogenic dystonia in individuals from Africa and specifically of African ancestry are unknown, and no local cases of TOR1A mutation dystonia are found in the literature. OBJECTIVES : To describe our experience with the outcome of TOR1A mutation-positive patients with isolated generalised dystonia (IGD) of childhood onset who were treated with pallidal DBS. METHODS : All patients with TOR1A mutations from Steve Biko Academic Hospital and the Pretoria Neurology Institute in Pretoria, South Africa (SA), who underwent DBS for IGD of childhood onset were identified. We conducted a retrospective analysis of their demographics, clinical presentation and time to generalisation, genetic status and family history, and response to DBS treatment of the internal segment of the globus pallidus (GPi), utilising pre- and post-surgical scores of the United Dystonia Rating Scale (UDRS). Results. Three patients, all of black African ancestry, were identified. The median age at onset was 12 years and the median time to surgery from dystonia generalisation was 3 years. Two children presented with cervical-onset dystonia. Two patients were related, representing the only two with a positive family history. All three patients had a positive outcome after surgery, with improvement of 67 - 90% on the UDRS recorded at last follow-up. CONCLUSION : TOR1A mutations are found in SA patients of black African ancestry, with age of onset and generalisation comparable to those described in international studies. However, onset with cervical dystonia was more common than previously reported. Response to GPi DBS was excellent in all patients.http://www.samj.org.zadm2022Neurolog

    A Comparative Study of the Efficiency of Knott's Concentration Technique and the Immunochromatographic Method in the Diagnosis of Wuchereria bancrofti

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    This investigation was carried out in Afikpo North L.G.A. Ebonyi State, Nigeria, to compare the efficiency of the Immunochromatographic method (ICT) and the Knott's concentration techniques in detecting Wuchereria bancrofti in the blood of different humans, in Afikpo North L.G.A. Ebonyi State, Nigeria. Ethical approval was received from the Ebonyi State Ministry of Health. Consent forms were distributed to the subjects to indicate their willingness in giving out their blood for examination. Seven hundred and eight one (781) participants from thirty villages (30) consented to be examined and were parasitologically examined using the ICT and the Knott's concentration methods. From the study, the prevalence of the ICT and the Knott's concentration methods were 21.13% and 5.38% respectively. The sensitivity, specificity, positive predictive and negative predictive values were 100%, 83%, 25% and 100% respectively. Subjects within the age range of 58 – 62 years had the highest prevalence of 43.48% using the ICT method. Also, using the Knott's concentration technique, subjects within 58 – 62 years had the highest prevalence of 26.09%. Males were also more infected 24(6.16%) than females 18(4.59%). The ICT method detected more W. bancrofti antigens 85(21.85%) among males than 80(20.41%) among females. There was no statistically significant difference in the prevalence of infection among gender (P>0.05) at 2 tailed difference of .780. However, the ICT method is more sensitive than the Knott's concentration technique in detecting W. bancrofti antigen. Therefore, for adequate diagnosis of W. bancrofti and to achieve the elimination and proper control of lymphatic filariasis according to the goal of the National lymphatic filariasis/ Control Programme, the ICT method is the best since it can detect the onset of W. bancrofti in the blood unlike the Knott's concentration method which can only detect the worm Keywords: Lymphatic filariasis, Immochromatographic method, Knott's concentration technique, Wuchereria bancroftiNigerian Journal of Parasitology, Vol. 33 [2] September 2012, pp. 163-17

    Effects of supplementing urea treated or untreated rice straw with sundried or ensiled poultry litter on the performance of growing yankasa rams

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    No Abstract. BAHPA Vol. 54 (3) 2006: pp. 210-21

    Effect of Organic Manure and Agricultural Lime on Growth and Yield of Two Bean Varieties

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    Aim: This study evaluates the effects of soil amendment with organic manure-OM and agricultural lime-AL on the growth and yield of Phaseolus vulgaris and Vigna aconitifolia grown on soils with 3 different pH (locations) in Southern Cross River State. Study Design: The study was laid in randomized complete block design (RCBD) with three replications. Place and Duration of Study: This study was carried out at the Greenhouse, Department of Plant and Ecological Studies, University of Calabar for a period of 3 months. Methodology: The three locations were: Akamkpa with pH 4.0, Calabar Municipality with pH of 7.0 and Odukpani with pH of 9.0. The treatments were; control (0 g), OM1 (100 g organic manure), OM2 (200g organic manure), AL1 (100 g agricultural lime), AL2 (200 g agricultural lime), OM1 + AL1 (50 g organic manure + 50 g agricultural lime) and OM2 +AL2 (100 g organic manure and 100 g agricultural lime. Results: Results obtained from the physico-chemical properties of the soil before treatment application revealed low nutrients and minerals which increased after treatment application. Six weeks after planting, there were significant increase in plant height (p<0.05) of P. vulgaris and V. aconitifolia on soil from Akamkpa (169.66 cm) and Odukpani (146.63 cm) treated with OM2 + AL2 compared to 43.77 cm and 71.77 cm from control. Leaf area, petiole length, number of leaves were all significantly improved especially at 8 weeks after planting. Fresh weights of leaf, stem and root revealed higher yield (p<0.05) at the final harvest recorded as 8 weeks after planting than the amount at 4 weeks after planting. The results obtained from the pod number, pod weight and number of seed showed significant improvement after treatment application. Conclusion: The findings of this study strongly support the use of organic manure and agriculture lime as affordable and accessible sources of manure especially for our local farmers. &nbsp

    Pollen Album of Rhizophora Members in Nigeria and Its Taxonomic Implications

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    Pollen samples of Rhizophora individuals in Nigeria Niger Delta were conducted to generate a pollen album. Samples were collected in permanent plots in Koko, Ogidigben (Delta State), Akakumama, Nembe (Bayelsa State), Olupiri-Epelema, Ugwede (Rivers State), Ikwe, Opolom (Akwa Ibom State), Adiabo Ukanabio and Esighi (Cross River State) between 2013 - 2016. A total of three hundred and sixty four (364) Rhizophora pollen samples were obtained from the sea water-land interfaces to 604 meters inland (maximum Rhizophora occurrence landward). The samples were prepared using standard Erdtmanian methods. The result showed the presence of five different shapes of tricolporate pollen. The exine sculptures were baculate, rugulate, striate and reticulate while the pollen shapes were either sub prolate, prolate or oblate. The polar shapes were circular in Operational Taxonomic Units (OTUs) 1 and 4, triangular in OTUs 2 and 3 and trilobate in OTU5. The grain arrangements for all five OTUs were monad. When this data was normalized and converted to numerical taxonomy using Euclidean distance, a loose relationship was observed between OTUs 1 and 2 suggesting distinct species. Although, OTUs 3, 4 and 5 showed statistical difference (0.05 confidence limit) among themselves, analysis revealed no statistical difference to OTU 1 and 2, implying them as subtypes of either OTU. The finding is in contrast to the widely held notion that only three putative Rhizophora species exist in Nigeria. Edaphic and genetic research of the two inferred species and three subtypes should be conducted

    Performance and carcass characteristics of weaner rabbits fed varying levels of spent sorghum residue

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    No Abstract. BAHPA Vol. 54 (3) 2006: pp. 204-20
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