The giving of personal names in spoken languages and signed languages — a comparison

This study utilises data from two Deaf communities to investigate the principles operant in the giving of personal names and to demonstrate similarities and differences as compared with those operant in spoken-language communities. Descriptive principles which operate are the physical features of the person to be named, his or her behaviour and mannerisms, associations evoked by him or her, translation of the meaning of the written name, and naming after someone else. In addition to the descriptive principles, the incorporation of the handshape of alphabetical signs is a second important principle in the giving of personal names

Coverage of language-related topics, and in particular, language rights and language policy issues in the South African printed media

The printed media is an important instrument in bringing about community mobilisation, and can make a contribution in the debate on language matters by influencing the political (ideological) orientation of policy-makers which at this stage can be characterised as internationalisation. Internationalisation leads to language hierachisation or linguicism. Linguicism entails that the resources of minority groups, which include language, are seen as handicaps. The empirical investigation reported on in this article established inter alia the percentage of topics reported on, the distribution of reporting per language medium of newspapers, the types of records on language complaints, and the sources of language rights incidents. In order to determine the validity of the conclusions the results are compared to official complaints lodged with PanSALB. It was established that the printed media is a reliable barometer of the feelings and attitudes of its readers, and a government can benefit by ensuring that citizens’ constitutional rights are upheld, and avoid conflicts by seeking to solve problems before they escalate

The giving of personal names in spoken languages and signed languages — a comparison

This study utilises data from two Deaf communities to investigate the principles operant in the giving of personal names and to demonstrate similarities and differences as compared with those operant in spoken-language communities. Descriptive principles which operate are the physical features of the person to be named, his or her behaviour and mannerisms, associations evoked by him or her, translation of the meaning of the written name, and naming after someone else. In addition to the descriptive principles, the incorporation of the handshape of alphabetical signs is a second important principle in the giving of personal names

Preliminary report on osteochondrosis in cattle in the north-western parts of South Africa

The north-western part of South Africa, in particular, is well known for mineral imbalances. Aphosphorosis, resulting in rickets and osteomalacia, received a lot of attention at the turn of the nineteenth century (1882–1912). This was followed in 1997 by research on Vryburg hepatosis, another area-specific mineral imbalance–related disease in young calves reared on manganese-rich soil derived from the weathering of dolomitic (carbonate) rock formations. In 1982, a totally new syndrome (osteochondrosis) manifested in, amongst others, areas in South Africa where aphosphorosis was rife. Osteochondrosis was also identified in the south-western parts of Namibia as well as southern Botswana and other areas in South Africa. Osteochondrosis has a multifactorial aetiology and this study focused on the role of minerals, particularly phosphorus, in the development of the disease. A significant improvement in the clinical signs in experimental animals and a reduction of osteochondrosis occurred on farms where animals received bioavailable trace minerals and phosphorus as part of a balanced lick. An increase in the occurrence of the disease on farms during severe drought conditions in 2012–2013 prompted researchers to investigate the possible role of chronic metabolic acidosis in the pathogenesis of the disease.http://www.ojvr.org/am2016Paraclinical Science

Regulatory sites for splicing in human basal ganglia are enriched for disease-relevant information

Genome-wide association studies have generated an increasing number of common genetic variants associated with neurological and psychiatric disease risk. An improved understanding of the genetic control of gene expression in human brain is vital considering this is the likely modus operandum for many causal variants. However, human brain sampling complexities limit the explanatory power of brain-related expression quantitative trait loci (eQTL) and allele-specific expression (ASE) signals. We address this, using paired genomic and transcriptomic data from putamen and substantia nigra from 117 human brains, interrogating regulation at different RNA processing stages and uncovering novel transcripts. We identify disease-relevant regulatory loci, find that splicing eQTLs are enriched for regulatory information of neuron-specific genes, that ASEs provide cell-specific regulatory information with evidence for cellular specificity, and that incomplete annotation of the brain transcriptome limits interpretation of risk loci for neuropsychiatric disease. This resource of regulatory data is accessible through our web server, http://braineacv2.inf.um.es/

Identification of novel risk loci, causal insights, and heritable risk for Parkinson's disease: a meta-analysis of genome-wide association studies

Background Genome-wide association studies (GWAS) in Parkinson's disease have increased the scope of biological knowledge about the disease over the past decade. We aimed to use the largest aggregate of GWAS data to identify novel risk loci and gain further insight into the causes of Parkinson's disease. Methods We did a meta-analysis of 17 datasets from Parkinson's disease GWAS available from European ancestry samples to nominate novel loci for disease risk. These datasets incorporated all available data. We then used these data to estimate heritable risk and develop predictive models of this heritability. We also used large gene expression and methylation resources to examine possible functional consequences as well as tissue, cell type, and biological pathway enrichments for the identified risk factors. Additionally, we examined shared genetic risk between Parkinson's disease and other phenotypes of interest via genetic correlations followed by Mendelian randomisation. Findings Between Oct 1, 2017, and Aug 9, 2018, we analysed 7·8 million single nucleotide polymorphisms in 37 688 cases, 18 618 UK Biobank proxy-cases (ie, individuals who do not have Parkinson's disease but have a first degree relative that does), and 1·4 million controls. We identified 90 independent genome-wide significant risk signals across 78 genomic regions, including 38 novel independent risk signals in 37 loci. These 90 variants explained 16–36% of the heritable risk of Parkinson's disease depending on prevalence. Integrating methylation and expression data within a Mendelian randomisation framework identified putatively associated genes at 70 risk signals underlying GWAS loci for follow-up functional studies. Tissue-specific expression enrichment analyses suggested Parkinson's disease loci were heavily brain-enriched, with specific neuronal cell types being implicated from single cell data. We found significant genetic correlations with brain volumes (false discovery rate-adjusted p=0·0035 for intracranial volume, p=0·024 for putamen volume), smoking status (p=0·024), and educational attainment (p=0·038). Mendelian randomisation between cognitive performance and Parkinson's disease risk showed a robust association (p=8·00 × 10−7). Interpretation These data provide the most comprehensive survey of genetic risk within Parkinson's disease to date, to the best of our knowledge, by revealing many additional Parkinson's disease risk loci, providing a biological context for these risk factors, and showing that a considerable genetic component of this disease remains unidentified. These associations derived from European ancestry datasets will need to be followed-up with more diverse data. Funding The National Institute on Aging at the National Institutes of Health (USA), The Michael J Fox Foundation, and The Parkinson's Foundation (see appendix for full list of funding sources)

Identification of candidate Parkinson disease genes by integrating genome-wide association study, expression, and epigenetic data sets

Importance Substantial genome-wide association study (GWAS) work in Parkinson disease (PD) has led to the discovery of an increasing number of loci shown reliably to be associated with increased risk of disease. Improved understanding of the underlying genes and mechanisms at these loci will be key to understanding the pathogenesis of PD. Objective To investigate what genes and genomic processes underlie the risk of sporadic PD. Design and Setting This genetic association study used the bioinformatic tools Coloc and transcriptome-wide association study (TWAS) to integrate PD case-control GWAS data published in 2017 with expression data (from Braineac, the Genotype-Tissue Expression [GTEx], and CommonMind) and methylation data (derived from UK Parkinson brain samples) to uncover putative gene expression and splicing mechanisms associated with PD GWAS signals. Candidate genes were further characterized using cell-type specificity, weighted gene coexpression networks, and weighted protein-protein interaction networks. Main Outcomes and Measures It was hypothesized a priori that some genes underlying PD loci would alter PD risk through changes to expression, splicing, or methylation. Candidate genes are presented whose change in expression, splicing, or methylation are associated with risk of PD as well as the functional pathways and cell types in which these genes have an important role. Results Gene-level analysis of expression revealed 5 genes (WDR6 [OMIM 606031], CD38 [OMIM 107270], GPNMB [OMIM 604368], RAB29 [OMIM 603949], and TMEM163 [OMIM 618978]) that replicated using both Coloc and TWAS analyses in both the GTEx and Braineac expression data sets. A further 6 genes (ZRANB3 [OMIM 615655], PCGF3 [OMIM 617543], NEK1 [OMIM 604588], NUPL2 [NCBI 11097], GALC [OMIM 606890], and CTSB [OMIM 116810]) showed evidence of disease-associated splicing effects. Cell-type specificity analysis revealed that gene expression was overall more prevalent in glial cell types compared with neurons. The weighted gene coexpression performed on the GTEx data set showed that NUPL2 is a key gene in 3 modules implicated in catabolic processes associated with protein ubiquitination and in the ubiquitin-dependent protein catabolic process in the nucleus accumbens, caudate, and putamen. TMEM163 and ZRANB3 were both important in modules in the frontal cortex and caudate, respectively, indicating regulation of signaling and cell communication. Protein interactor analysis and simulations using random networks demonstrated that the candidate genes interact significantly more with known mendelian PD and parkinsonism proteins than would be expected by chance. Conclusions and Relevance Together, these results suggest that several candidate genes and pathways are associated with the findings observed in PD GWAS studies

Die aard van bydraes van Taalfasette en Suid-Afrikaanse Tydskrif vir Taalkunde, 1965 tot en met Desember 1999

The nature of contributions in Taalfasette and South African Journal of Linguistics, 1965 to December 1999. The mouthpiece of the Linguistic Society of Southern Africa, the South African Journal of Linguistics, amalgamated with the South African Journal of Applied Language Studies in 2000. The origin of the first mentioned journal can be traced back to 1965 when a linguistic conference was held in Pretoria, and a volume, Taalfasette 1 (language facets), was published. Since then, to the end of 1999, 520 contributions appeared. The nature of these contributions are discussed. Besides some tendencies which are pointed out the significance of the contributions regarding the core sections of linguistics, are treated. In 2000 het die mondstuk van die Linguistevereniging van Suider-Afrika, die Suid-Afrikaanse Tydskrif vir Taalkunde en die Suid-Afrikaanse Tydskrif vir Toegepaste Taalstudies saamgesmelt. Die oorsprong van die e.g. tydskrif kan teruggevoer word na 1965 toe `n linguistekongres in Pretoria gehou is en die referate in `n bundel Taalfasette 1 gepubliseer is. Sedert daardie beskeie begin tot aan die einde van 1999 het 520 bydraes verskyn. Die aard van hierdie bydraes word bespreek. Behalwe enkele tendense wat uitgelig word, word die belang van bydraes in die kerngebiede van die taalkunde bespreek. (S/ern Af Linguistics & Applied Language Stud: 2002 20(1&2): 65-90

Coverage of language-related topics, and in particular, language rights and language policy issues in the South African printed media

The printed media is an important instrument in bringing about community mobilisation, and can make a contribution in the debate on language matters by influencing the political (ideological) orientation of policy-makers which at this stage can be characterised as internationalisation. Internationalisation leads to language hierachisation or linguicism. Linguicism entails that the resources of minority groups, which include language, are seen as handicaps. The empirical investigation reported on in this article established inter alia the percentage of topics reported on, the distribution of reporting per language medium of newspapers, the types of records on language complaints, and the sources of language rights incidents. In order to determine the validity of the conclusionsthe results are compared to official complaints lodged with PanSALB. It was established that the printed media is a reliable barometer of the feelings and attitudes of its readers, and a government can benefit by ensuring that citizens’ constitutional rights are upheld, and avoid conflicts by seeking to solve problems before they escalate

Gevalle van positiewe taalbeplanning soos gerapporteer in die gedrukte media

Opsommimg: Gevalle van taalmiskenning, vermeend en werklik, kom algemeen voor, en word, tereg, wyd in die pers bespreek. Die teenoorgestelde, naamlik gevalle van positiewe taalbeplanning van tale van veral minderheidsprekers, kom gelukkig ook voor. In opdrag van en met befondsing van PanSAT moniteer die Eenheid vir Taalbestuur aan die Universiteit van die Vrystaat vir die afgelope drie jaar die taalregtesituasie in Suid-Afrika soos in die gedrukte media gerapporteer. In hierdie bydrae word gevalle van positiewe taalbeplanning soos in die gedrukte media gerapporteer in die periode 1 Januarie tot 31 Desember 2003 bespreek. Dit sluit onder andere in die skep van omstandighede wat bevorderlik is vir die instandhouding, ontwikkeling en uitbreiding van die gebruik, en bevordering van respek van nie net al die amptelike tale nie, maar ook die tale van die Khoi en San, Suid-Afrikaanse Gebaretaal, en ander tale wat algemeen deur gemeenskappe gebruik word. Daar word onderskei tussen positiewe taalbeplanning deur amptelike en privaat instansies. Terwyl amptelike instansies statutêr verplig word om die taalkousules van die Grondwet na te kom, is die privaat instansies nie aan hierdie voorskrifte gebind nie. In vergelyking met die oorwig van gevalle van taalmiskenning is die voorbeelde van positiewe taalbeplanning juis bevestiging van die oorheersing van Engels. Indien die bevordering van veeltaligheid algemeen, heelhartig en entoesiasties deel van 'n algemene taalbeleid was, sou die bespreekte voorbeelde nie spesifiek uitgesonder hoef te word nie. Abstract: Cases of the disregard of languages, whether perceived or actual, have received wide coverage in the print media. Conversely, however, cases of positive language planning in respect of the languages of minority speakers also occur. The Unit for Language Management at the University of the Free State receives funding from PanSALB in order to monitor the situation regarding language rights, as reported on in the print media. In this article, cases of positive language planning, as reported on in the print media for the period 1 January to 31 December 2003, are discussed. Positive language planning includes, inter alia, the creation of circumstances that are conducive to the maintenance, development and extended use of, and the promotion of respect for, all the official languages, as well as the Khoi and San languages, South African Sign Language, and the other languages generally used by linguistic communities. A distinction is made between positive language planning by official and private institutions. Official institutions are statutorily compelled to comply with the language clauses of the Constitution, while private institutions are not bound by these stipulations. The relatively small proportion of cases of positive language planning, in comparison to the numerous cases of language neglect, provides a clear confirmation of the dominance of English. If the promotion of multilingualism was generally and enthusiastically treated as part of a general policy, it would not have been necessary to discuss individual cases of language planning.Southern African Linguistics and Applied Language Studies 2007, 25(4): 557–57