Occasional papers, no. 16

This work encompasses an inquiry into the role of the entrepreneur in economic development, and a report of interviews with eighty African businessmen in the Transkei, Ciskei and some urban locations. South Africa provides a particularly interesting field for the study of African enterprise insofar as it is possible to examine the evolution of entrepreneurship in two fundamentally different environments - namely rural reserves and large urban areas. Furthermore, there has been a substantial increase in the number of African entrepreneurs during this century. The study achieves added significance in view of the wide racial income differentials which are an endemic feature of South African socio-economic existence; moreover, there is a great deal of evidence to suggest that, despite the high real growth rates during recent years, the racial income gap is widening.’ A corollary to this is the worsening of the relative - though not necessarily the absolute - economic position of the Black population. Hence: "the fundamental question for South Africa's economic future revolves around the income relationship between the Whites and the African segment of the non-White group."Digitised by Rhodes University Library on behalf of the Institute of Social and Economic Research (ISER

Some socio-economic aspects of African entrepreneurship : with particular reference to the Transkei and Ciskei

This work encompasses an inquiry into the role of the entrepreneur in economic development, and a report of interviews with eighty African businessmen in the Transkei, Ciskei and some urban locations. South Africa provides a particularly interesting field for the study of African enterprise insofar as it is possible to examine the evolution of entrepreneurship in two fundamentally different environments - namely rural reserves and large urban areas. Furthermore, there has been a substantial increase in the number of African entrepreneurs during this century. The study achieves added significance in view of the wide racial income differentials which are an endemic feature of South African socio-economic existence; moreover, there is a great deal of evidence to suggest that, despite the high real growth rates during recent years, the racial income gap is widening. A corollary to this is the worsening of the relative - though not necessarily the absolute - economic position of the Black population. Hence : "the fundamental question for South Africa's economic future revolves around the income relationship between the Whites and the African segment of the non- White group." At present a great deal of pressure is being exerted on White employers to adopt more racially equitable systems of remuneration, and on the Government to relax the industrial colour bar. Although such measures would probably have a positive influence in preventing the gap from widening still further, there is reason to believe that their effectiveness would be limited. The justifications for this assertion are twofold: a) As Allister Sparks has pointed out, "as long as (Blacks) are limited to being hirelings of (Whites), their progress will necessarily remain stunted. Because of race prejudice they will not be promoted as readily as Whites of equal ability. There will not be Black managers and company directors. They will be held down by a vicious circle of disadvantages: prejudice will deprive them of promotion, which will deprive them of experience, which will provide the pretext for not promoting them. b) There is much convincing evidence to show that property ownership rather than wages is the basic factor determining income distribution. Information indicative of the extreme racial inequality of property ownership in South Africa is given by Spandau, who has shown that in 1960 'other income' (i. e. rent, interest and profits) formed 119% of work income of Whites, and only 19% of the work income of Africans. 2 In the absence of cataclysmic social change, the development of African entrepreneurial talent emerges as a possible means of escaping from this apparent impasse. This does not of course imply that even a fairly large increase in the number of African entrepreneurs would automatically result in raising the living standards of a substantial portion of the Black population. Nevertheless, it would represent a positive move towards redressing the inequalities in property ownership and facilitate the acquisition of organizational skills, which in turn implies a better utilization of human resources than exists at present

Creating a space for young women's voices: Using participatory 'video drama' in Uganda

This article draws upon research that explored the experiences of young women in relation to sexual health in Uganda with a view to enhancing gender-sensitive strategies. We have coined the phrase ‘participatory video drama’ to describe the exploratory methodology that the young women participants in our research used to present stories about their lives. The aim of this article is to suggest that ‘participatory video’ (PV) and ‘participatory video drama’ (PVD) are innovative methodological tools to utilise when working with participants who experience voicelessness in their everyday lives. We contribute to an emerging body of work around this methodology by suggesting that the process of PV provides a novel and engaging platform for participants to express their experiences. PVD further creates spaces for the performative exploration of embedded power relations and is therefore informative and has the potential to be transformatory and empowering

Case Reports1. A Late Presentation of Loeys-Dietz Syndrome: Beware of TGFβ Receptor Mutations in Benign Joint Hypermobility

Background: Thoracic aortic aneurysms (TAA) and dissections are not uncommon causes of sudden death in young adults. Loeys-Dietz syndrome (LDS) is a rare, recently described, autosomal dominant, connective tissue disease characterized by aggressive arterial aneurysms, resulting from mutations in the transforming growth factor beta (TGFβ) receptor genes TGFBR1 and TGFBR2. Mean age at death is 26.1 years, most often due to aortic dissection. We report an unusually late presentation of LDS, diagnosed following elective surgery in a female with a long history of joint hypermobility. Methods: A 51-year-old Caucasian lady complained of chest pain and headache following a dural leak from spinal anaesthesia for an elective ankle arthroscopy. CT scan and echocardiography demonstrated a dilated aortic root and significant aortic regurgitation. MRA demonstrated aortic tortuosity, an infrarenal aortic aneurysm and aneurysms in the left renal and right internal mammary arteries. She underwent aortic root repair and aortic valve replacement. She had a background of long-standing joint pains secondary to hypermobility, easy bruising, unusual fracture susceptibility and mild bronchiectasis. She had one healthy child age 32, after which she suffered a uterine prolapse. Examination revealed mild Marfanoid features. Uvula, skin and ophthalmological examination was normal. Results: Fibrillin-1 testing for Marfan syndrome (MFS) was negative. Detection of a c.1270G > C (p.Gly424Arg) TGFBR2 mutation confirmed the diagnosis of LDS. Losartan was started for vascular protection. Conclusions: LDS is a severe inherited vasculopathy that usually presents in childhood. It is characterized by aortic root dilatation and ascending aneurysms. There is a higher risk of aortic dissection compared with MFS. Clinical features overlap with MFS and Ehlers Danlos syndrome Type IV, but differentiating dysmorphogenic features include ocular hypertelorism, bifid uvula and cleft palate. Echocardiography and MRA or CT scanning from head to pelvis is recommended to establish the extent of vascular involvement. Management involves early surgical intervention, including early valve-sparing aortic root replacement, genetic counselling and close monitoring in pregnancy. Despite being caused by loss of function mutations in either TGFβ receptor, paradoxical activation of TGFβ signalling is seen, suggesting that TGFβ antagonism may confer disease modifying effects similar to those observed in MFS. TGFβ antagonism can be achieved with angiotensin antagonists, such as Losartan, which is able to delay aortic aneurysm development in preclinical models and in patients with MFS. Our case emphasizes the importance of timely recognition of vasculopathy syndromes in patients with hypermobility and the need for early surgical intervention. It also highlights their heterogeneity and the potential for late presentation. Disclosures: The authors have declared no conflicts of interes

The Science Performance of JWST as Characterized in Commissioning

This paper characterizes the actual science performance of the James Webb Space Telescope (JWST), as determined from the six month commissioning period. We summarize the performance of the spacecraft, telescope, science instruments, and ground system, with an emphasis on differences from pre-launch expectations. Commissioning has made clear that JWST is fully capable of achieving the discoveries for which it was built. Moreover, almost across the board, the science performance of JWST is better than expected; in most cases, JWST will go deeper faster than expected. The telescope and instrument suite have demonstrated the sensitivity, stability, image quality, and spectral range that are necessary to transform our understanding of the cosmos through observations spanning from near-earth asteroids to the most distant galaxies.Comment: 5th version as accepted to PASP; 31 pages, 18 figures; https://iopscience.iop.org/article/10.1088/1538-3873/acb29

Genome-Wide Association Study in BRCA1 Mutation Carriers Identifies Novel Loci Associated with Breast and Ovarian Cancer Risk

BRCA1-associated breast and ovarian cancer risks can be modified by common genetic variants. To identify further cancer risk-modifying loci, we performed a multi-stage GWAS of 11,705 BRCA1 carriers (of whom 5,920 were diagnosed with breast and 1,839 were diagnosed with ovarian cancer), with a further replication in an additional sample of 2,646 BRCA1 carriers. We identified a novel breast cancer risk modifier locus at 1q32 for BRCA1 carriers (rs2290854, P = 2.7×10-8, HR = 1.14, 95% CI: 1.09-1.20). In addition, we identified two novel ovarian cancer risk modifier loci: 17q21.31 (rs17631303, P = 1.4×10-8, HR = 1.27, 95% CI: 1.17-1.38) and 4q32.3 (rs4691139, P = 3.4×10-8, HR = 1.20, 95% CI: 1.17-1.38). The 4q32.3 locus was not associated with ovarian cancer risk in the general population or BRCA2 carriers, suggesting a BRCA1-specific associat

The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer

Abstract: Breast cancer is a common disease partially caused by genetic risk factors. Germline pathogenic variants in DNA repair genes BRCA1, BRCA2, PALB2, ATM, and CHEK2 are associated with breast cancer risk. FANCM, which encodes for a DNA translocase, has been proposed as a breast cancer predisposition gene, with greater effects for the ER-negative and triple-negative breast cancer (TNBC) subtypes. We tested the three recurrent protein-truncating variants FANCM:p.Arg658*, p.Gln1701*, and p.Arg1931* for association with breast cancer risk in 67,112 cases, 53,766 controls, and 26,662 carriers of pathogenic variants of BRCA1 or BRCA2. These three variants were also studied functionally by measuring survival and chromosome fragility in FANCM−/− patient-derived immortalized fibroblasts treated with diepoxybutane or olaparib. We observed that FANCM:p.Arg658* was associated with increased risk of ER-negative disease and TNBC (OR = 2.44, P = 0.034 and OR = 3.79; P = 0.009, respectively). In a country-restricted analysis, we confirmed the associations detected for FANCM:p.Arg658* and found that also FANCM:p.Arg1931* was associated with ER-negative breast cancer risk (OR = 1.96; P = 0.006). The functional results indicated that all three variants were deleterious affecting cell survival and chromosome stability with FANCM:p.Arg658* causing more severe phenotypes. In conclusion, we confirmed that the two rare FANCM deleterious variants p.Arg658* and p.Arg1931* are risk factors for ER-negative and TNBC subtypes. Overall our data suggest that the effect of truncating variants on breast cancer risk may depend on their position in the gene. Cell sensitivity to olaparib exposure, identifies a possible therapeutic option to treat FANCM-associated tumors

The James Webb Space Telescope Mission

Twenty-six years ago a small committee report, building on earlier studies, expounded a compelling and poetic vision for the future of astronomy, calling for an infrared-optimized space telescope with an aperture of at least $4m$. With the support of their governments in the US, Europe, and Canada, 20,000 people realized that vision as the $6.5m$ James Webb Space Telescope. A generation of astronomers will celebrate their accomplishments for the life of the mission, potentially as long as 20 years, and beyond. This report and the scientific discoveries that follow are extended thank-you notes to the 20,000 team members. The telescope is working perfectly, with much better image quality than expected. In this and accompanying papers, we give a brief history, describe the observatory, outline its objectives and current observing program, and discuss the inventions and people who made it possible. We cite detailed reports on the design and the measured performance on orbit.Comment: Accepted by PASP for the special issue on The James Webb Space Telescope Overview, 29 pages, 4 figure

Finishing the euchromatic sequence of the human genome

The sequence of the human genome encodes the genetic instructions for human physiology, as well as rich information about human evolution. In 2001, the International Human Genome Sequencing Consortium reported a draft sequence of the euchromatic portion of the human genome. Since then, the international collaboration has worked to convert this draft into a genome sequence with high accuracy and nearly complete coverage. Here, we report the result of this finishing process. The current genome sequence (Build 35) contains 2.85 billion nucleotides interrupted by only 341 gaps. It covers ∼99% of the euchromatic genome and is accurate to an error rate of ∼1 event per 100,000 bases. Many of the remaining euchromatic gaps are associated with segmental duplications and will require focused work with new methods. The near-complete sequence, the first for a vertebrate, greatly improves the precision of biological analyses of the human genome including studies of gene number, birth and death. Notably, the human enome seems to encode only 20,000-25,000 protein-coding genes. The genome sequence reported here should serve as a firm foundation for biomedical research in the decades ahead