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Resumen Introducción: el lupus eritematoso sistémico (LES) es una enfermedad sistémica que se ha asociado a mayor severidad con la infección por SARS-CoV-2. Particularmente la alta actividad de la enfermedad y algunos inmunosupresores se han vinculado a peores desenlaces. Objetivos: describir las características por SARS-CoV-2 en pacientes con LES en Argentina del registro SAR-COVID y establecer los factores asociados a peor desenlace de la misma. Materiales y métodos: estudio observacional. Se incluyeron pacientes con diagnóstico de LES con infección confirmada por SARS-CoV-2 (RT-PCR y/o serología positiva) del registro SAR-COVID. Los datos se recolectaron desde agosto de 2020 hasta marzo de 2022. El desenlace de la infección se midió mediante la escala ordinal de la Organización Mundial de la Salud (EO-OMS). Se definió COVID-19 severo con un valor EO-OMS ≥5. Análisis descriptivo, test T de Student, test de Mann Whitney U, ANOVA, chi2 y Fisher. Regresión logística múltiple. Resultados: se incluyeron 399 pacientes, el 93% de sexo femenino, con una edad media de 40,9 años (DE 12,2). El 39,6% tenía al menos una comorbilidad. Al momento de la infección, el 54,9% recibía glucocorticoides, el 30,8% inmunosupresores y el 3,3% agentes biológicos. La infección por SARS-CoV-2 fue leve en la mayoría de los casos, mientras que un 4,6% tuvo curso severo y/o falleció. Estos últimos presentaban comorbilidades, usaban glucocorticoides y tenían síndrome antifosfolipídico (SAF) con mayor frecuencia y mayor actividad de la enfermedad al momento de la infección. En el análisis multivariado, la hipertensión arterial, el diagnóstico de SAF y el uso de glucocorticoides se asociaron a hospitalización severa y/o muerte por COVID-19 (EO-OMS ≥5). Conclusiones: en esta cohorte de pacientes con LES con infección por SARS-CoV-2 confirmada, la mayoría cursó de manera sintomática, un 22,1% fue hospitalizado y un 5% requirió ventilación mecánica. La mortalidad fue cercana al 3%. El diagnóstico de SAF, tener hipertensión arterial y el uso de glucocorticoides se asociaron significativamente con COVID-19 severo.

Abstract Introduction: systemic lupus erythematosus (SLE) is a systemic disease that has been associated with greater severity with SARS-CoV-2 infection. Particularly high disease activity and some immunosuppressants have been linked to worse outcomes. Objectives: to describe the characteristics due to SARS-CoV-2 in patients with SLE in Argentina from the SAR-COVID registry and to establish the factors associated with a worse outcome of the same. Materials and methods: observational study. Patients diagnosed with SLE with confirmed SARS-CoV-2 infection (RT-PCR and/or positive serology) from the SAR-COVID registry were included. Data was collected from August 2020 to March 2022. The outcome of the infection was measured using the World Health Organization - ordinal scale (WHO-OS). Severe COVID-19 was defined as an WHO-OS value ≥5. Descriptive analysis, Student's T test, Mann Whitney U, ANOVA, chi2 and Fisher. Multiple logistic regression. Results: a total of 399 patients were included, 93% female, with a mean age of 40.9 years (SD 12.2), 39.6% had at least one comorbidity. At the time of infection, 54.9% were receiving glucocorticoids, 30.8% immunosuppressants, and 3.3% biological agents. SARS-CoV-2 infection was mild in most cases, while 4.6% had a severe course and/or died. The latter had comorbidities, used glucocorticoids and had antiphospholipid syndrome (APS) more frequently and higher disease activity at the time of infection. In the multivariate analysis, high blood pressure, the diagnosis of APS, and the use of glucocorticoids were associated with severe hospitalization and/or death from COVID-19 (WHO-EO ≥5). Conclusions: in this cohort of SLE patients with confirmed SARS-CoV-2 infection, most had a symptomatic course, 22.1% were hospitalized, and 5% required mechanical ventilation. Mortality was close to 3%. The diagnosis of APS, having high blood pressure, and the use of glucocorticoids were significantly associated with severe COVID-19.

https://doi.org/10.47196/rar.v33i4.704

Determining the prevalence of tuberculosis in emergency departments in the Eastern Cape region of South Africa and the utility of the World Health Organization tuberculosis screening tool
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Roberts, J S

; Hahn, E A

; Black, J

; Maharaj, R

; Farley, J E

; Redd, A D

; Reynolds, S J

; Quinn, T C

; Hansoti, B

SAMJ: South African Medical Journal

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Set 2021, Volume 111 Nº 9 Páginas 872 - 878

Resumo: En | Texto: En | PDF: En

BACKGROUND. South Africa (SA) faces a significant tuberculosis (TB) burden complicated by high rates of HIV-TB co-infection. In SA, emergency departments (EDs) play an important role in screening for TB. OBJECTIVES. To determine the prevalence of TB in the ED and the effectiveness of the World Health Organization (WHO) TB screening tool. Methods. This was a cross-sectional observational study, conducted in the ED at Livingstone Hospital, Port Elizabeth, from 4 June to 15 July 2018. All patients aged >18 years and able to consent were administered the WHO TB screening questions and underwent a point-of-care HIV test and demographic data collection. Patients were followed up for 1 year and tracked in the National Health Laboratory Service database to determine TB status using laboratory testing. RESULTS. Over the study period, 790 patients were enrolled. Overall, 121 patients (15.3%) were TB-positive, with 46 (38.0%) diagnosed after presenting to the ED and 75 (62.0%) with a previous TB history determined by self-report or confirmed laboratory testing. A greater proportion of the TB-positive patients were HIV-positive (49.6%) compared with the TB-negative population (24.8%). TB-positive individuals were more likely to present to the ED with a chief complaint of shortness of breath (SoB) (18.2%) compared with the TB-negative population (10.5%). Overall, the WHO TB screening tool had poor sensitivity (46.5%) and specificity (62.5%) for identifying TB-positive patients in the ED. A multiple logistic regression analysis, controlled for age and sex, showed HIV status (odds ratio (OR) 2.81; p<0.001) and SoB (OR 2.19; p<0.05) to be significant predictors of TB positivity. Adding positive HIV status and a presenting complaint of SoB increased sensitivity to 78.3%. CONCLUSIONS. EDs in SA face a high burden of TB. While WHO screening guidelines identify some of these patients, including routine HIV testing in the ED could significantly affect the number of TB diagnoses made.

https://doi.org/10.7196/SAMJ.2021.v111i9.15492 21 downloads

Tracking Medical Graduates in Jamaica and The Bahamas
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McCartney, T

; Lee, MG

; Roberts, R

; SinQuee, C

West Indian Medical Journal

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Mar 2019, Volume 68 Nº 1 Páginas 47 - 52

Resumo: En Es | Texto: En Es | PDF: En | PDF: Es

ABSTRACT Objective: To determine the availability of employment and retention for the increased number of medical graduates in Jamaica and The Bahamas. Methods: The availability of internships and junior medical posts for graduates of The University of the West Indies in Jamaica and The Bahamas over the five-year period of 2012 to 2016 was reviewed. Results: There were 947 medical graduates between 2012 and 2016 in Jamaica; 69.4% of them were female. The number of graduates increased annually. The majority of graduates were Jamaicans; non-Jamaicans comprised 18.2%. All Jamaican graduates obtained internship posts in the public hospitals and at the University Hospital of the West Indies, Jamaica, with a phased increase of approximately 20% in the posts available over the period. The public hospitals employed 75% of the graduates. There were 172 non-Jamaican graduates, the majority of whom were from Trinidad and Tobago, who did not seek employment in Jamaica. In The Bahamas, there were 132 graduates, all of whom obtained internship posts in public hospitals. Of the 2259 applicants, 664 were accepted to postgraduate programmes in Jamaica and The Bahamas between 2012 and 2016. Seventy per cent of all graduates were working in the English-speaking Caribbean, with the majority in Jamaica. Conclusion: The number of medical graduates trained increased, with a predominance of females. All graduates obtained employment in Jamaica and The Bahamas, mainly in public institutions. Although there was 70% retention of graduates, there is an urgent need to increase the number of postgraduate posts and accredited training institutions in the Caribbean.

RESUMEN Objetivo: Determinar la disponibilidad de empleo y la retención para el número creciente de graduados de medicina en Jamaica y las Bahamas. Métodos: Se revisó la disponibilidad de pasantías y puestos médicos para recién graduados de la Universidad de West Indies en Jamaica y las Bahamas durante el período de cinco años de 2012 a 2016. Resultados: Hubo 947 graduados de medicina entre 2012 y 2016 en Jamaica, de los cuales el 69.4% eran mujeres. El número de graduados aumentó anualmente. La mayoría de los graduados eran jamaicanos; los no jamaicanos comprendían el 18.2%. Todos los graduados jamaicanos obtuvieron puestos de pasantía en los hospitales públicos y en el Hospital Universitario de UWI, Jamaica, con un aumento gradual de aproximadamente 20% de los puestos disponibles durante el período. Los hospitales públicos emplearon el 75% de los graduados. Hubo 172 graduados no jamaicanos, la mayoría de los cuales eran de Trinidad y Tobago, y no buscaban empleo en Jamaica. En las Bahamas, hubo 132 graduados, todos los cuales obtuvieron puestos de pasantía en hospitales públicos. De los 2259 solicitantes, 664 fueron aceptados en los programas de postgrado en Jamaica y las Bahamas entre 2012 y 2016. El setenta por ciento de todos los graduados trabajaban en el Caribe de habla inglesa, mayormente en Jamaica. Conclusión: El número de graduados médicos entrenados aumentó, con predominio de las mujeres. Todos los graduados obtuvieron empleo en Jamaica y las Bahamas, principalmente en instituciones públicas. Aunque hubo 70% de retención de graduados, hay una necesidad urgente de aumentar el número de puestos de posgrado y formación acreditada en las instituciones del Caribe.

https://doi.org/10.7727/wimj.2018.029

Learning through play in Grade R classrooms: Measuring practitioners' confidence, knowledge and practice
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Isaacs, Shafika

; Roberts, Nicky

; Spencer-Smith, Garth

; Brink, Sonja

South African Journal of Childhood Education

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2019, Volume 9 Nº 1 Páginas 1 - 11

Resumo: En | Texto: En | PDF: En

BACKGROUND: This article reports on the evaluation of a professional development programme for underqualified Grade R practitioners, many of whom work under challenging conditions. AIM: The study aimed to evaluate the practitioners' confidence, knowledge and practice of play. SETTING: The programme involved a 5-week training programme for 1000 Grade R practitioners across three Eastern Cape districts. METHODS: The study included three data sources: (1) self-reported shifts in confidence and practice solicited through closed Likert-type questions, (2) responses to open-ended questions on knowledge of play and (3) lesson observations of case study practitioners, using a lesson observation protocol to distil quantitative shifts in the practice of case study practitioners (n = 10), compared with control practitioners (n = 4 RESULTS: The evaluation found positive shifts in practitioners' self-reporting on their confidence and knowledge of play. However, evidence of their knowledge of play was mixed. Practitioners offered very general conceptions of play, with specific attention on the expected 'form' of play. The use of materials for play, and changed classroom practice from whole class to small groups, were most strongly evident. Because it was short course of 5 weeks, lesson observations of case study practitioners were less positive, with no significant difference between treatment and control lesson observations. CONCLUSION: The study opens a window into the implementation of the 5-week professional development programme and the instrumentation used to reflect on practitioners' confidence, knowledge and practice of play. The discussion reflects critically on improving the instrumentation in future for measuring shifts in practitioner confidence, knowledge and practice of play.

https://doi.org/10.4102/sajce.v9i1.704 571 downloads

Improving Grade R mathematics teaching in South Africa: Evidence from an impact evaluation of a province-wide intervention
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Hazell, Eleanor

; Spencer-Smith, Garth

; Roberts, Nicky

Journal of Education (University of KwaZulu-Natal)

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2019, Nº 76 Páginas 48 - 68

Resumo: En | Texto: En | PDF: En

We present the impact on learner outcomes of a province-wide Grade R mathematics intervention (termed R-Maths) in relation to theoretical frameworks established from a meta-evaluation of evaluations of education interventions in South Africa and a review of other meta-evaluation and synthesis studies. We compare the changes in Mathematics performance from baseline to end line, of learners in the intervention group (taught by R-Maths-trained teachers/practitioners) to the comparison group (learners in schools in the same districts, but whose teachers/practitioners had not yet received the R-Maths intervention). The intervention group performed 2.9 percentage points better than the comparison group over the whole Marko-D test of mathematical competencies, with a small effect size. The greatest effects on performance were from language of learning and teaching, and district. The R-Maths case indicates that a modified cascade model which includes some elements of Fleisch's "educational triple cocktail" (structured learning materials, teacher training, and support) may be successful by working with, and through, department of education structures. Whether the effects are retained over time and if these effects can be replicated in different contexts is not yet known.

https://doi.org/10.17159/2520-9868/i76a03 917 downloads

Molecular and cellular oncogenic mechanisms in hepatocellular carcinoma
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Setshedi, M

; Andersson, M

; Kgatle, M M

; Roberts, L R

SAMJ: South African Medical Journal

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Ago 2018, Volume 108 Nº 8 Páginas 41 - 46

Resumo: En | Texto: En | PDF: En

Hepatocellular carcinoma (HCC), as the fifth most diagnosed cancer in the world and the third leading cause of death, is a global health concern. Research stimulated by the dismal prognosis of HCC has led to significant advances in the understanding of its aetio-pathogenesis. Dysregulation of genetic, epigenetic and signalling pathways as well as tumour immunological escape mechanisms are implicated in the development of HCC. This review summarises the current knowledge of these mechanisms and argues that it is only through further understanding of their role in hepatocarcinogenesis, that new effective therapies can be developed.

https://doi.org/10.7196/samj.2018.v108i8.13500 428 downloads

Hepatocellular carcinoma: Epidemiology, pathogenesis and surveillance - implications for sub-Saharan Africa
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Zakharia, K

; Luther, C A

; Alsabbak, H

; Roberts, L R

SAMJ: South African Medical Journal

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Ago 2018, Volume 108 Nº 8 Páginas 35 - 40

Resumo: En | Texto: En | PDF: En

Hepatocellular carcinoma (HCC) originates from hepatocytes usually secondary to chronic inflammation and cirrhosis. It is an important disease of global significance with a high incidence and mortality. It is the fifth and eighth most common cancer in males and females, respectively. HCC is also extremely lethal; in 2015 it was the second and sixth most common cause of death from cancer in males and females, respectively. Chronic viral hepatitis B and C are the most frequent risk factors for the development of HCC, and the global distribution of HCC largely mirrors that of chronic viral hepatitis. More recently, there has been a notable increase in the incidence of HCC as a result of obesity-related fatty liver disease. Here, we review the epidemiology of HCC, examine recent advances in our understanding of the pathogenesis of HCC, discuss the implications for identification of potential therapeutic targets, and provide the most updated recommendations on surveillance for HCC, with particular attention to the unique challenges and potential opportunities to reduce the burden of illness and death from HCC in sub-Saharan Africa.

https://doi.org/10.7196/samj.2018.v108i8.13499 710 downloads

Hyalinising clear cell carcinoma of the maxilla in a young adult female
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Bhamjee, F

; Jeftha, A

; Holmes, H

; Roberts, R

; Roberts, T

South African Dental Journal

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Mar 2018, Volume 73 Nº 2 Páginas 86 - 88

Resumo: En | Texto: En | PDF: En

284 downloads

Polyarteritis nodosa presenting as a bladder outlet obstruction
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Borkum, M

; Abdelrahman, H Y

; Roberts, R

; Kalla, A A

; Okpechi, I G

SAMJ: South African Medical Journal

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Nov 2016, Volume 106 Nº 11 Páginas 1086 - 1087

Resumo: En | Texto: En | PDF: En

Polyarteritis nodosa (PAN) of the urinary tract is rare. An unusual case of systemic PAN involving the bladder neck is described. A 27-year-old man, with known diastolic hypertension diagnosed 2 years earlier, was admitted with chronic urinary obstruction complicated by hydronephrosis. He had symptoms of myalgia and weight loss, was afebrile but had an elevated erythrocyte sedimentation rate and acute-on-chronic renal impairment. All virological and serological tests including hepatitis B and anti-neutrophil cytoplasmic antibody were negative. A computed tomography scan of the brain revealed small-vessel disease. A bladder neck mass was visualised on cystoscopy. Histological examination of this demonstrated a medium-sized necrotising vasculitis with small-vessel fibrinoid necrosis suggestive of PAN. At least six of the American College of Rheumatology criteria for PAN were met. The patient was treated with pulses of intravenous cyclophosphamide and oral corticosteroids with a good clinical response.

https://doi.org/10.7196/samj.2016.v106i11.11083 289 downloads

10.

A morphological and immunohistochemical evaluation of gastric carcinoma in the Western Cape province of South Africa
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Roberts, R

; Govender, P

; Naidoo, R

; Locketz, M

South African Journal of Surgery

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Mar 2016, Volume 54 Nº 1 Páginas 15 - 21

Resumo: En | Texto: En | PDF: En

BACKGROUND: Gastric resections for carcinoma are common, but gastric carcinoma in South Africa, and particularly within the Western Cape province, has not been well documented. METHOD: The objective of the study was to immunohistochemically evaluate HER2/ neu overexpression, determine aberrations in β-catenin and epithelial-cadherin (E-cadherin) expression, and correlate these findings with gastric carcinoma subtypes. RESULTS: Ninety-seven gastric adenocarcinoma resections were morphologically categorised as intestinal-, diffuse- or mixed-type adenocarcinomas, and immunohistochemically stained for β-catenin, E-cadherin (extracellular and cytoplasmic domains) and HER2/neu. The results of staining were compared between the subtypes for statistically significant differences. All 97 cases were confirmed as gastric adenocarcinomas, with 39 (40%) intestinal- type, 51 (53%) diffuse-type, and 7 (7%) mixed-type tumours identified. Patient ages ranged from 18-84 years. HER2/neu was overexpressed in 12 (12%) cases, with intestinal-type morphology (p = 0.017) reported in nine. Fourteen cases (14%) demonstrated abnormal β-catenin localisation. Aberrant E-cadherin (extracellular domain) localisation occurred in 36 (37%) cases. Diffuse-type morphology was associated with a significantly high proportion (p = ≤ 0.001). Aberrant E-cadherin (cytoplasmic domain) localisation occurred in 7 (7%) cases. A significantly high proportion (six of these cases) (p = 0.023) of these was diffuse-type morphology. Eleven (11%) adenocarcinomas occurred in patients aged ≤ 40 years, with intestinal morphology reported in nine of these 11. Aberrant E-cadherin (extracellular domain) localisation was noted in seven of the 11, a significantly high proportion when compared to that in the older patients (p = 0.025). CONCLUSION: Distinct immunomorphological correlations are apparent in tumours demonstrating HER2/neu overexpression or abnormal E-cadherin localisation. Intestinal morphology, poor differentiation and E-cadherin abnormalities are frequently demonstrated in tumours occurring in younger individuals.

457 downloads

11.

Investigating the bottom free surface nappe (ogee profile) across a sharp-crested weir caused by the flow in an asymmetrical approach channel
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van Vuuren, S J

; Coetzee, G L

; Roberts, C P R

Journal of the South African Institution of Civil Engineering

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Set 2015, Volume 57 Nº 3 Páginas 57 - 63

Resumo: En | Texto: En | PDF: En

The shape of an ogee spillway is based on the shape of the lower nappe of water flowing over an aerated sharp-crested weir. At the design discharge, this shape minimises the possibility of sub-atmospheric pressure occurring on the spillway and maximises the discharge across the spillway. The formulae that are currently in use to approximate the ogee profile consider only two-dimensional flow parameters, being the depth of flow over the spillway crest, the inclination of the upstream wall face, and the pool depth upstream of the spillway. The current formulae for the ogee shape, does not consider the influence of three-dimensional flow. The most significant three-dimensional flow parameters that could affect the shape of the lower nappe are the flow velocity distribution upstream of the spillway, the orientation or angle of the water approaching the spillway, the asymmetrical cross-section of the approach channel, and the curvature of the dam wall. This paper reflects the influence of asymmetrical flow in the approach channel. The investigation was based on a physical model constructed at the Department of Water and Sanitation (DWS). The inclination of the model's sidewalls of the upstream approach channel was varied to cause a change in the symmetricity, while the lower nappe profile was routinely measured. It was found that the flow in the asymmetrical approach channel caused a variation from the theoretical estimated ogee profile. A comparison between the measured nappe profile and the currently used formulae was investigated. It can be concluded that the symmetricity of the approach channel influences the shape of the bottom nappe, which differs from the shape as proposed by the current ogee formulae. It is recommended that three-dimensional flow should be examined when designing an ogee spillway.

https://doi.org/10.17159/2309-8775/2015/V57N3A7 2219 downloads

12.

HIV/AIDS knowledge and sexual behaviour among junior high school students in New Providence, Bahamas
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Pinder-Butler, S

; Frankson, MA

; Hanna-Mahase, C

; Roberts, R

West Indian Medical Journal

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2013, Volume 62 Nº 4 Páginas 318 - 322

Resumo: En Es | Texto: En Es | PDF: En | PDF: Es

OBJECTIVE: To determine accuracy of knowledge and sexual behaviour patterns of junior high school students in New Providence towards HIV/AIDS and identify gender variations. METHODS: A cross-sectional study with cluster sampling of classrooms was undertaken at two schools utilizing a questionnaire. SPSS was used for statistical analysis. RESULTS: Three hundred and fifty-four students participated in the study; the mean age was 12.25 years, 55.1% males and 44.9% females. Most (88%) students identified sexual intercourse as a mode of HIV transmission, 62.5% were accurate regarding anal sex and 32.9% were accurate about sexual intercourse in the water, as modes of HIV transmission. Abstinence was identified as a method of HIV prevention by 54.1% of students although 85.2% of students knew that condoms were a method of prevention. On beliefs regarding transmission, 21.2% believed mosquito bites and 13.1% believed toilet seats were routes for disease spread. Only 16.9% of participants reported a history of sexual intercourse; of those, 57.6% indicated that they were age < 10 years when they first had intercourse. Concerning use of birth control, 64.5% of sexually experienced respondents reported never using any method. CONCLUSION: Junior high school students have fairly accurate knowledge of HIV/AIDS but misconceptions regarding transmission are still prevalent; patterns in gender variation are few.

OBJETIVO: Determinar la exactitud del conocimiento y los patrones de comportamiento sexual hacia el VIH/SIDA, así como identificar las variaciones de género, entre los estudiantes de escuela secundaria básica en Nueva Providencia. MÉTODOS: Se realizó un estudio transversal con muestreo por conglomerados de aulas en dos escuelas utilizando un cuestionario. Se utilizó el programa SPSS para el análisis estadístico. RESULTADOS: Trescientos cincuenta y cuatro estudiantes participaron en el estudio, de los cuales 55.1% fueron varones y 44.9% hembras. La edad promedio fue 12.25 años. La mayoría (88%) de los estudiantes identificaron las relaciones sexuales como un modo de transmisión del VIH, 62,5% fueron precisos con respecto a la transmisión por sexo anal, y 32,9% fueron precisos acerca de las relaciones sexuales en el agua, como modos de transmisión del VIH. La abstinencia fue identificada como método de prevención del VIH por 54,1% de los estudiantes, aunque 85,2% de ellos sabían que los condones son un método de prevención. Sobre las creencias con respecto a la transmisión, 21.2% creía que las picaduras de mosquitos constituían vías de propagación, en tanto que 13.1% consideraba los asientos de inodoro como rutas para la enfermedad. Sólo 16.9% de los participantes reportaron una historia de las relaciones sexuales. De ellos, 57.6% indicó que tenían < 10 años de edad cuando tuvieron su primera relación sexual. Sobre el uso del control de la natalidad, 64.5% de los encuestados con experiencia sexual, reportaron no haber usado nunca ningún método. CONCLUSIÓN: Los estudiantes de escuela secundaria tienen un conocimiento bastante preciso del VIH/SIDA, pero los conceptos erróneos acerca de la transmisión son aún frecuentes. Los patrones de variación de género son pocos.

13.

Direct-to-consumer genetic testing: To test or not to test, that is the question
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Dandara, C

; Greenberg, J

; Lambie, L

; Lombard, Z

; Naicker, T

; Ramesar, R

; Ramsay, M

; Roberts, L

; Theron, M

; Venter, P

; Bardien, S

SAMJ: South African Medical Journal

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2013, Volume 103 Nº 8 Páginas 510 - 512

Resumo: En | Texto: En | PDF: En

In direct-to-consumer (DTC) genetic testing, laboratory-based genetic services are offered directly to the public without an independent healthcare professional being involved. The committee of the Southern African Society for Human Genetics (SASHG) appeals to the public and clinicians to be cautious when considering and interpreting such testing. It is important to stress that currently, the clinical validity and utility of genetic tests for complex multifactorial disorders such as type 2 diabetes mellitus and cardiovascular diseases is questionable. The majority of such tests are not scientifically validated and are based on a few preliminary studies. Potential consumers should be aware of the implications of genetic testing that could lead to stigmatisation and discrimination by insurance companies or potential employers of themselves and their family members. Guidelines and recommendations for DTC genetic testing in South Africa (SA) are currently lacking. We provide recommendations that seek to protect consumers and healthcare providers in SA from possible exploitation.

828 downloads Citado 3 vezes em SciELO

14.

The value of genetic testing for inherited retinal disease caused by mutations in the ABCA4 gene in South Africans
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Roberts, L J

; Hardie, S

; Hoosen, T Goolam

; Ramesar, R S

; Greenberg, L J

SAMJ: South African Medical Journal

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2013, Volume 103 Nº 10 Páginas 702 - 703

Resumo: En | Texto: En | PDF: En

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15.

Gastric heterotopia causing jejunal ulceration and obstruction
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Chinnery, G E

; Bernon, M M

; Banderker, M A

; Roberts, R

; Krige, J E J

South African Journal of Surgery

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2013, Volume 51 Nº 4 Páginas 146 - 147

Resumo: En | Texto: En | PDF: En

A young woman with persistent postprandial vomiting was found to have a high-grade proximal jejunal stricture. The stricture was surgically excised, and histopathological examination showed gastric heterotopia with localised ulceration and fibrosis. Symptomatic gastric heterotopia in the small bowel is rare, and to our knowledge this is the first report of jejunal gastric heterotopia resulting in ulceration with subsequent stricturing and obstruction.

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