Founder effect in 20 Afrikaner kindreds with pseudoxanthoma elasticum

The pedigrees of 20 families with pseudoxanthoma elasticum (PXE) were investigated. The analyses involved 13 generations up to and including the initial settlers, who arrived in the Cape before 1660. Four settler surnames predominate in these pedigrees. Because of the marriage patterns of the settlers' descendants it was necessary to classify the four surnames Into two groups. It is suggested that these two groups are the founder groups of present-day PXE patients. Similar genealogical studies have been performed on kindreds with familial polyposis, familial heart block and familial hyper. cholesterolaemia, among other disorders. Due to geographical isolation, political developments and cultural factors in the Afrikaner, these investigations are feasible and often lead to the identification of founder origin

Progressive familial heart block, two types

CITATION: Brink A. J. & Torrington, M. 1977. Progressive familial heart block, two types. South African Medical Journal, 52(2):53-59.The original publication is available at http://www.samj.org.zaTwo types of heart block which occur extensively in families in the Republic of South Africa are reported. A type I heart block tends to have the pattern of a right bundle-branch block and/or left anterior hemiblock occurring individually or together, and manifested clinically when complete heart block supervenes, either with syncopal episodes, Stokes-Adams seizures or sudden death. The condition is inherited r356w1++3.3.1 as an autosomal dominant gene and appears to be progressive in nature; the risk to life appears to be greatest at 3 particular periods: at or soon after birth, during puberty and the early 20s, and again towards middle age. The type II condition also appears to be progressive and is inherited as an autosomal dominant gene. The pattern, however, tends to develop along the lines of a sinus bradycardia with a left posterior hemiblock, again presenting clinically as syncopal episodes, Stokes-Adams seizures or sudden death when complete heart block supervenes. Both conditions are likely to be widely prevalent throughout the Republic of South Africa. The pathogenesis is discussed in relation to the patterns of the conduction disturbances.Publisher’s versio

Linkage study of the low-density lipoprotein-receptor gene and cholesterol levels in an Afrikaner family : quantitative genetics and identification of a minor founder effect

CITATION: Brink, P. A. et al. 1990. Linkage study of the low-density lipoprotein-receptor gene and cholesterol levels in an Afrikaner family : quantitative genetics and identification of a minor founder effect. South African Medical Journal, 77:292-296.The original publication is available at http://www.samj.org.zaOverlap of clinical and biochemical characteristics between hypercholesterolaemia in members of the general population and familial hypercholesterolaemic (FH) individuals may lead to misdiagnosis. Quantitative analyisis of family data may circumvent this problem. A way of looking for an association between plasma cholesterol levels and restriction fragment length polymorphism markers (RFLP) on the low-density lipoprotein (LDL) receptor gene by using reference cholesterol distributions was explored. Linkage, with a logarithm of the odds (LOD) score of 6,8 at θ 0, was detected between cholesterol levels and the LDL receptor in an extended Afrikaner family. Two RFLP-haplotypes, one previously found in a majority of Afrikaner FH homozygotes, and a second, Stu I -, BstE II +, Pvu II +, Nco I +, were associated with high cholesterol levels in this pedigree.Publisher’s versio

The outcome of familial adenomatous polyposis in the absence of a polyposis registry

No Abstract

Understanding employee resourcing in construction organizations

In recent years the literature on employee resourcing has consistently advocated the importance of adopting a holistic, strategic approach to employee deployment decision making rather than adopting a reactive needs-based approach. This is particularly problematic in construction where the multi-project environment leads to constantly changing resource requirements and to changing demands over a project's life cycle. This can lead to inappropriate decisions, which fail to meet the longer-term needs of both construction organizations and their employees. A structured and comprehensive understanding of the current project team deployment practices within large construction organizations was developed. Project deployment practices were examined within seven case study contracting firms. The emergent themes that shaped the decision-making processes were grouped into five broad clusters comprising human resource planning, performance/career management, team deployment, employee involvement and training and development. The research confirms that a reactive and ad hoc approach to the function prevails within the firms investigated. This suggests a weak relationship between the deployment process and human resource planning, team deployment, performance management, employee involvement and training and development activities. It is suggested that strategic HR-business partnering could engender more transparent and productive relationships in this crucial area

Predictors of diagnostic yield in bronchoscopy: a retrospective cohort study comparing different combinations of sampling techniques

<p>Abstract</p> <p>Background</p> <p>The reported diagnostic yield from bronchoscopies in patients with lung cancer varies greatly. The optimal combination of sampling techniques has not been finally established.</p> <p>The objectives of this study were to find the predictors of diagnostic yield in bronchoscopy and to evaluate different combinations of sampling techniques.</p> <p>Methods</p> <p>All bronchoscopies performed on suspicion of lung malignancy in 2003 and 2004 were reviewed, and 363 patients with proven malignant lung disease were included in the study. Sampling techniques performed were biopsy, transbronchial needle aspiration (TBNA), brushing, small volume lavage (SVL), and aspiration of fluid from the entire procedure. Logistic regression analyses were adjusted for sex, age, endobronchial visibility, localization (lobe), distance from carina, and tumor size.</p> <p>Results</p> <p>The adjusted odds ratios (OR) with 95% confidence intervals (CI) for a positive diagnostic yield through all procedures were 17.0 (8.5–34.0) for endobronchial lesions, and 2.6 (1.3–5.2) for constriction/compression, compared to non-visible lesions; 3.8 (1.3–10.7) for lesions > 4 cm, 6.7 (2.1–21.8) for lesions 3–4 cm, and 2.5 (0.8–7.9) for lesions 2–3 cm compared with lesions <= 2 cm. The combined diagnostic yield of biopsy and TBNA was 83.7% for endobronchial lesions and 54.2% for the combined group without visible lesions. This was superior to either technique alone, whereas additional brushing, SVL, and aspiration did not significantly increase the diagnostic yield.</p> <p>Conclusion</p> <p>In patients with malignant lung disease, visible lesions and larger tumor size were significant predictors of higher diagnostic yield, after adjustment for sex, age, distance from carina, side and lobe. The combined diagnostic yield of biopsy and TBNA was significant higher than with either technique alone.</p

Trust into mistrust: the uncertain marriage between public and private sector practice for middle managers in education

The role of the middle manager has proved to be a difficult one to define due to the fluid nature of the tasks performed and the heterogeneity of understanding that exists for the term. This is further complicated by the differences associated with the context in which individual manager’s work. This research, which explores the drive towards neo-liberalism and the subsequent adoption of leadership and management practice from the private sector, makes a comparison between the roles of managers in English education with those in other settings. Using a questionnaire with 252 responses and interviews with 6 managers in the private and public sector, the role of middle managers was compared to identify the similarities and differences between organisations driven by social policy as opposed to profit. Participants surveyed were based in primary, secondary and further education and the interview respondents were employed in non-education contexts. The findings suggest that the initial reforms, which required higher levels of accountability through the introduction of key performance indicators, appear to be fully embedded within the education manager’s role and there is a high degree of convergence in relation to the expectation of managers at this level in all the settings. The findings also highlighted a fundamental difference in relation to how middle managers were expected to carry out their duties, the autonomy they had to do so and the authority that was bestowed upon them. © 2018 Association for Research in Post-Compulsory Education (ARPCE)