The term {open_quotes}retintis pigmentosa{close_quotes} (RP) refers to a group of inherited retinal degenerative disorders. Clinical manifestations include night-blindness, with variable age of onset, followed by constriction of the... more
The term {open_quotes}retintis pigmentosa{close_quotes} (RP) refers to a group of inherited retinal degenerative disorders. Clinical manifestations include night-blindness, with variable age of onset, followed by constriction of the visual field that may progress to total loss of sight in later life. Previous studies have shown that RP is caused by mutations within different genes and may be inherited as an
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MIGRATORY HISTORY OF POPULATIONS AND ITS USE IN DETERMINING RESEARCH DIRECTION FOR RETINAL DEGENERATIVE DISORDERS Raj Ramesar*, Alison September, George Rebello, Jacquie Greenberg and Rene Goliath 1. ABSTRACT South Africa represents an ...
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Retinitis pigmentosa is one of the most common causes of severe visual handicap in middle to late life. Prior to this report, seven loci had previously been mapped for the autosomal dominant form of this disorder (adRP). We now report the... more
Retinitis pigmentosa is one of the most common causes of severe visual handicap in middle to late life. Prior to this report, seven loci had previously been mapped for the autosomal dominant form of this disorder (adRP). We now report the identification of a novel adRP locus on chromosome 17q. To map the new locus, we performed linkage analysis with microsatellite markers in a large South African kindred. After exclusion of 13 RP candidate gene loci (including rhodopsin and peripherin-RDS), we obtained significant positive lod scores at zero recombination fraction (theta = 0) for D17S808 (Z = 4.63) and D17S807 (Z = 5.69). Multipoint analysis gave a maximum lod score of 8.28 between these two markers. From haplotype analysis, the disease locus lies in the interval between markers D17S809 and D17S942. Three candidate genes for retinal dystrophies map to this chromosomal region and these genes are currently being investigated for possible involvement with adRP in this family.
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Retinitis pigmentosa (RP) is a group of genetically and clinically heterogeneous retinopathies, some of which have been shown to result from mutations in two different known retinal genes, rhodopsin (3q) and peripherin-rds (6p). Three... more
Retinitis pigmentosa (RP) is a group of genetically and clinically heterogeneous retinopathies, some of which have been shown to result from mutations in two different known retinal genes, rhodopsin (3q) and peripherin-rds (6p). Three additional anonymous loci at 7p, 7q and pericentric 8 have been implicated by linkage studies. There are still, however, a few families in which all known loci have been excluded. In this report we present data indicating a location, on the short arm of chromosome 17, for the autosomal dominant RP (ADRP) locus in a large South African (SA) family of British ancestry. Positive two-point lod scores have been obtained for nine markers (D17S938, Z = 5.43; D17S796, Z = 4.82; D17S849, Z = 3.6; D17S786, Z = 3.55; TP53, Z = 3.55; D17S578, Z = 3.29; D17S960, Z = 3.16; D17S926, Z = 1.51; D17S804, Z = 0.47 all at theta = 0.10 except D17S804 and D17S926, theta = 0.20). These data provide definitive evidence for the localization of an ADRP gene on chromosome 17p. The human recoverin gene has been localized to 17p13.1 and was consequently a prime candidate for ADRP in the family studied. However, mutation screening of the three exons of this gene failed to produce any evidence of recoverin being the gene involved in the pathogenesis of ADRP in this SA family.
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Research Interests: Nutritional Epidemiology, Cytokines, Vitamin D, Tuberculosis and Infectious Disease, Biological Sciences, and 12 moreNutritional Anthropology, Prospective studies, Tuberculosis, Humans, TB, Female, Male, Hiv Aids, Adult, Maternal and Child Health and Nutrition, Vitamin D Deficiency, and Clinical Infectious Diseases
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This study aimed to characterize the experience of having a treatment supporter among HIV-infected South African patients enrolled in a randomized controlled trial that compared the efficacy of patient-nominated treatment supporters... more
This study aimed to characterize the experience of having a treatment supporter among HIV-infected South African patients enrolled in a randomized controlled trial that compared the efficacy of patient-nominated treatment supporters administering partial directly observed antiretroviral therapy (DOT-ART) versus self-administered ART (Self-ART). Results of the parent study showed no virologic or sustained immunologic differences between groups, but revealed a significant survival benefit among the DOT-ART group. One hypothesis is that this survival benefit may be explained by differences in the training and involvement of the treatment supporters between groups. In the current study, results from a semi-structured exit interview of 172 participants indicate that most participants in both arms maintained a positive, satisfying relationship with a single supporter, typically family member or friend. Most patients (82.6%) perceived supporters as helpful with medication adherence, with no significant difference between groups (p=0.752). Additionally, supporters provided emotional, instrumental, and material support. DOT-ART patients were more likely than Self-ART patients to report that their supporter helped to decrease drug or alcohol use (p=0.03). Patients identified supporter trustworthiness, availability, good communication and reciprocity of support as factors beneficial to a successful relationship. These results suggest: (1) Patient-nominated peers are feasible candidates for ART supporters in this resource-constrained setting; (2) In addition to assistance with medications, treatment supporters have the capacity to promote healthy behaviors and provide other types of support, which may contribute to improved outcomes, particularly with enhanced training; (3) Trustworthiness, availability, good communication, and reciprocity are key factors in a successful patient-supporter relationship.