58 research outputs found
Barriers to medical error reporting and disclosure by doctors: a bioethical evaluation
A Research report submitted to the Faculty of Health Sciences,
University of the Witwatersrand, Johannesburg, in partial fulfillment of the
requirements for the degree of Master of Science in Bioethics and
Health Law.
Johannesburg, 2017Medical errors that occur in public sector hospitals should be discussed with
patients and notified to specific structures to improve systems and patient
safety. To elucidate barriers to doctors reporting errors and to establish
correct ethical requirements, a mixed methods approach was used. A
normative literature-based analysis was done to determine the correct ethical
processes taking into account South African legislation. In addition a
questionnaire-based internet survey (using REDCap) was conducted at the
School of Clinical Medicine (SOCM) at the University of the Witwatersrand
which examined the current situation and attitudes towards medical error
disclosure.
There were 211 clinicians who completed the survey. Public sector hospital
staff shortages and patient overloads (96%) as well as poor record-keeping
systems (89%) were identified as important reasons for errors. Fears of
victimization by colleagues (59%) and medico-legal consequence (56%) were
prominent as reasons not to disclose medical errors. Poor reporting systems
available to doctors (66%) and insufficient support from senior staff made it
difficult for doctors to report errors. Training on correct disclosing of errors to
patients and family was seen as necessary to improve skills and facilitate
effective disclosure (94%). There was general agreement that doctors 'ought
to' disclose harmful medical errors (83%) and to a lesser degree 'potentially
harmful' errors to patients (70%).
Ethical guidelines that are appropriate for South Africa are suggested, as well
as the introduction of easier reporting systems. For disclosure, a safe
environment that protects against victimization and medico-legal prosecution
is important and legislation to support this is urgently required. Training for
doctors in correct methods for adequate disclosure and apology will assist
improving patient care.MT201
Retrospective review of ocular alignment after large-angle congenital esotropia surgery
Objective: The study’s aims were to evaluate the success of bimedial rectus recession as a primary surgical procedure for patients with congenital esotropia; describe the demographic data of the study group; and compare surgical success with patient age at the time of surgery.
Method: A retrospective review of 52 patients with congenital esotropia ≥ 50∆ (prism dioptres) was conducted. All patients underwent bimedial rectus recession and were followed-up postoperatively for a minimum of 6 months.
Results: The study period was from January 1992 to September 2003. Fifty-two patients were included in the study group. The pre-operative angle of deviation ranged from 50∆–85∆. Patient ages ranged from 15 months to 22 years, with a mean of 5.3 years and a median of 4 years. The gender distribution was 42% male (n = 20) and 58% female (n = 28). Surgery was successful (within 10∆ of orthophoria) in 77% (n = 40), a partial success (10∆–20∆ from orthophoria) in 17% (n = 9) and a failure (> 20∆ from orthophoria) in 6% (n = 3). No statistically significant relationship was found between surgical success and patient age at the time of surgery.
Conclusion: The study confirmed that bilateral medial rectus recession, performed as a primary procedure for patients with large-angle (> 50∆) congenital esotropia, has a high success rate. This finding corresponds with the outcomes of similar international studies
Traditional eye medication and pterygium occurrence in Limpopo Province
Background. The relative importance of environmental and hereditary factors in the occurrence of pterygium in African blacks has not been reported.
Aim. To investigate the relative significance of factors associated with pterygium occurrence.
Methods. This was a prospective case-controlled study where 150 pterygium patients and 150 controls participated. Interviews were conducted, eyes examined and multivariate analysis done. The families of 51 pterygium cases and 50 controls were examined for presence of pterygium.
Results. Of 150 cases and 150 controls, 79 (52.6%) and 60 (40%) used traditional eye drops (odds ratio (OR) 2.03; p=0.009. Ten cases (6.6%) and 26 controls (17.3%) had unstable tear film (OR 0.30; p=0.007. Forty-six cases (30.6%) and 15 controls (10%) reported a positive family history (OR 3.93;
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Association of Genetic Variants With Primary Open-Angle Glaucoma Among Individuals With African Ancestry.
Importance:Primary open-angle glaucoma presents with increased prevalence and a higher degree of clinical severity in populations of African ancestry compared with European or Asian ancestry. Despite this, individuals of African ancestry remain understudied in genomic research for blinding disorders. Objectives:To perform a genome-wide association study (GWAS) of African ancestry populations and evaluate potential mechanisms of pathogenesis for loci associated with primary open-angle glaucoma. Design, Settings, and Participants:A 2-stage GWAS with a discovery data set of 2320 individuals with primary open-angle glaucoma and 2121 control individuals without primary open-angle glaucoma. The validation stage included an additional 6937 affected individuals and 14 917 unaffected individuals using multicenter clinic- and population-based participant recruitment approaches. Study participants were recruited from Ghana, Nigeria, South Africa, the United States, Tanzania, Britain, Cameroon, Saudi Arabia, Brazil, the Democratic Republic of the Congo, Morocco, Peru, and Mali from 2003 to 2018. Individuals with primary open-angle glaucoma had open iridocorneal angles and displayed glaucomatous optic neuropathy with visual field defects. Elevated intraocular pressure was not included in the case definition. Control individuals had no elevated intraocular pressure and no signs of glaucoma. Exposures:Genetic variants associated with primary open-angle glaucoma. Main Outcomes and Measures:Presence of primary open-angle glaucoma. Genome-wide significance was defined as P < 5 × 10-8 in the discovery stage and in the meta-analysis of combined discovery and validation data. Results:A total of 2320 individuals with primary open-angle glaucoma (mean [interquartile range] age, 64.6 [56-74] years; 1055 [45.5%] women) and 2121 individuals without primary open-angle glaucoma (mean [interquartile range] age, 63.4 [55-71] years; 1025 [48.3%] women) were included in the discovery GWAS. The GWAS discovery meta-analysis demonstrated association of variants at amyloid-β A4 precursor protein-binding family B member 2 (APBB2; chromosome 4, rs59892895T>C) with primary open-angle glaucoma (odds ratio [OR], 1.32 [95% CI, 1.20-1.46]; P = 2 × 10-8). The association was validated in an analysis of an additional 6937 affected individuals and 14 917 unaffected individuals (OR, 1.15 [95% CI, 1.09-1.21]; P < .001). Each copy of the rs59892895*C risk allele was associated with increased risk of primary open-angle glaucoma when all data were included in a meta-analysis (OR, 1.19 [95% CI, 1.14-1.25]; P = 4 × 10-13). The rs59892895*C risk allele was present at appreciable frequency only in African ancestry populations. In contrast, the rs59892895*C risk allele had a frequency of less than 0.1% in individuals of European or Asian ancestry. Conclusions and Relevance:In this genome-wide association study, variants at the APBB2 locus demonstrated differential association with primary open-angle glaucoma by ancestry. If validated in additional populations this finding may have implications for risk assessment and therapeutic strategies
Novel mutation in the CHST6 gene causes macular corneal dystrophy in a black South African family
Gluttony, excess, and the fall of the planter class in the British Caribbean
Food and rituals around eating are a fundamental part of human existence. They can also be heavily politicized and socially significant. In the British Caribbean, white slaveholders were renowned for their hospitality towards one another and towards white visitors. This was no simple quirk of local character. Hospitality and sociability played a crucial role in binding the white minority together. This solidarity helped a small number of whites to dominate and control the enslaved majority. By the end of the eighteenth century, British metropolitan observers had an entrenched opinion of Caribbean whites as gluttons. Travelers reported on the sumptuous meals and excessive drinking of the planter class. Abolitionists associated these features of local society with the corrupting influences of slavery. Excessive consumption and lack of self-control were seen as symptoms of white creole failure. This article explores how local cuisine and white creole eating rituals developed as part of slave societies and examines the ways in which ideas about hospitality and gluttony fed into the debates over slavery that led to the dismantling of slavery and the fall of the planter class
Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes.
Multiple primary tumors (MPTs) affect a substantial proportion of cancer survivors and can result from various causes, including inherited predisposition. Currently, germline genetic testing of MPT-affected individuals for variants in cancer-predisposition genes (CPGs) is mostly targeted by tumor type. We ascertained pre-assessed MPT individuals (with at least two primary tumors by age 60 years or at least three by 70 years) from genetics centers and performed whole-genome sequencing (WGS) on 460 individuals from 440 families. Despite previous negative genetic assessment and molecular investigations, pathogenic variants in moderate- and high-risk CPGs were detected in 67/440 (15.2%) probands. WGS detected variants that would not be (or were not) detected by targeted resequencing strategies, including low-frequency structural variants (6/440 [1.4%] probands). In most individuals with a germline variant assessed as pathogenic or likely pathogenic (P/LP), at least one of their tumor types was characteristic of variants in the relevant CPG. However, in 29 probands (42.2% of those with a P/LP variant), the tumor phenotype appeared discordant. The frequency of individuals with truncating or splice-site CPG variants and at least one discordant tumor type was significantly higher than in a control population (χ2 = 43.642; p ≤ 0.0001). 2/67 (3%) probands with P/LP variants had evidence of multiple inherited neoplasia allele syndrome (MINAS) with deleterious variants in two CPGs. Together with variant detection rates from a previous series of similarly ascertained MPT-affected individuals, the present results suggest that first-line comprehensive CPG analysis in an MPT cohort referred to clinical genetics services would detect a deleterious variant in about a third of individuals.JW is supported by a Cancer Research UK Cambridge Cancer Centre Clinical Research Training Fellowship. Funding for the NIHR BioResource – Rare diseases project was provided by the National Institute for Health Research (NIHR, grant number RG65966). ERM acknowledges support from the European Research Council (Advanced Researcher Award), NIHR (Senior Investigator Award and Cambridge NIHR Biomedical Research Centre), Cancer Research UK Cambridge
Cancer Centre and Medical Research Council Infrastructure Award. The
University of Cambridge has received salary support in respect of EM from the NHS in the East of England through the Clinical Academic Reserve. The views expressed are those of the authors and not necessarily those of the NHS or Department of Health. DGE is an NIHR Senior Investigator and is supported by the all Manchester NIHR Biomedical Research Centre
Evaluating the Effects of SARS-CoV-2 Spike Mutation D614G on Transmissibility and Pathogenicity.
Global dispersal and increasing frequency of the SARS-CoV-2 spike protein variant D614G are suggestive of a selective advantage but may also be due to a random founder effect. We investigate the hypothesis for positive selection of spike D614G in the United Kingdom using more than 25,000 whole genome SARS-CoV-2 sequences. Despite the availability of a large dataset, well represented by both spike 614 variants, not all approaches showed a conclusive signal of positive selection. Population genetic analysis indicates that 614G increases in frequency relative to 614D in a manner consistent with a selective advantage. We do not find any indication that patients infected with the spike 614G variant have higher COVID-19 mortality or clinical severity, but 614G is associated with higher viral load and younger age of patients. Significant differences in growth and size of 614G phylogenetic clusters indicate a need for continued study of this variant
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