Browsing by Author "Bosch, Jason"
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- ItemOpen AccessCancellous bone use in the estimation of sex in a South African cadaveric and forensic sample(2025) Bosch, Jason; Friedling, Louise; Mole CalvinThe increasing number of unidentified individuals has become a growing concern worldwide. These individuals, whose identities remain unknown following medico-legal autopsy, present a complex challenge for authorities and communities alike. Forensic anthropology is a valuable tool to assist in the identification process, however further research is necessary to alleviate the increasing number of unidentified individuals. Imaging techniques such as X-rays and CT scanning have become an avenue in which research into the field of anthropology has expanded. LODOX imaging finds itself in an ideal position due to its widespread availability in most mortuaries in South Africa, primarily used for trauma analysis and identification of foreign objects. The overall aim of the study is to assess radiographic and dry bone measurements of the proximal femur for sex estimation in a South African population. This was done by assessing radiographic and dry bone parameters (e.g., traditional morphometric parameters and assessment of cancellous area and indirect density) for association with sex. Femora (58 males and 32 females) from the University of Cape Town Skeletal Repository were included in the study. Models generated were applied to a forensic cohort. Seventeen of the twenty-four variables included in this study were found to be significantly associated with sex. To determine the best possible model for sex estimation, an all-sub-sets logistic regression was performed. The two best models (model 1: cancellous area; model 2: cancellous area, maximum length and physiological length) that were generated, both showed an 88.2% agreement with previous sex estimates when applying them to a new cohort.
- ItemOpen AccessHeterozygous p.Asp50Asn mutation in the GJB2 gene in two Cameroonian patients with keratitis-ichthyosis-deafness (KID) syndrome(BioMed Central Ltd, 2013) Wonkam, Ambroise; Noubiap, Jean; Bosch, Jason; Dandara, Collet; Toure, GenevieveBACKGROUND: Keratitis-Ichthyosis-Deafness (KID) syndrome (OMIM 148210) is a congenital ectodermal defect that consists of an atypical ichthyosiform erythroderma associated with congenital sensorineural deafness. KID appears to be genetically heterogeneous and most cases are caused by GJB2 mutations. Mutations in African patients have been rarely described.CASE PRESENTATION:We report on two unrelated Cameroonian individuals affected with sporadic KID, presenting with the classic phenotypic triad. The two patients were heterozygous for the most frequent p.Asp50Asn mutation. This first report in patients from sub-Saharan African origin supports the hypothesis that the occurrence of KID due to p.Asp50Asn mutation in GJB2 seems not to be population specific. CONCLUSIONS: Our finding has implication in medical genetic practice, specifically in the molecular diagnosis of KID in Africans. These cases also reveal and emphasize the urgent need to develop appropriate policies to care for patients with rare/orphan diseases in Sub-Saharan Africa, as many of these cases become more and more recognizable.
- ItemOpen AccessSignificance of connexion genes in non-syndromic deafness in Africans(2013) Bosch, Jason; Wonkam, Ambroise; Dandara, Collet; Fieggen, KarenIncludes abstract. Includes bibliographical references.