This paper presents data from Vwanji, an under-documented Bantu language spoken by approximately 28,000 people in southwestern Tanzania. Bantu languages are well known for having multiple degrees of ...past time reference grammaticalized in their TAM systems, and Vwanji is a good example of such a language, but one with some interesting typological differences from certain general TAM trends in Bantu languages noted in Nurse (2008). Three past TAM forms, in particular, are the focus of the research: P1 /Anterior SM-VB-ile, P2 SM-a-VB-a, and the Near Past Habitual SM-a-VB-aɣa. The analysis of data from a corpus of narrative and non-narrative texts (both written and oral) reveals that these three TAM forms have multiple discourse functions which do not necessarily follow in expected ways from their places in the TAM system as a whole. Comparing the Vwanji findings with those of neighbouring languages suggests some possible directions in which the verb forms in Vwanji may be changing functionally or being lost. The goal of this investigation is to increase understanding of a typologically interesting language which has not been well described and for which there is very little published data. The paper also shows the importance of taking natural discourse data into account when considering TAM functions in a language. Relying on elicited data alone may hide interesting complexities and variation.
Next-generation sequencing (NGS) of circulating tumor DNA (ctDNA) supports blood-based genomic profiling but is not yet routinely implemented in the setting of a phase I trials clinic. TARGET is a ...molecular profiling program with the primary aim to match patients with a broad range of advanced cancers to early phase clinical trials on the basis of analysis of both somatic mutations and copy number alterations (CNA) across a 641 cancer-associated-gene panel in a single ctDNA assay. For the first 100 TARGET patients, ctDNA data showed good concordance with matched tumor and results were turned round within a clinically acceptable timeframe for Molecular Tumor Board (MTB) review. When a 2.5% variant allele frequency (VAF) threshold was applied, actionable mutations were identified in 41 of 100 patients, and 11 of these patients received a matched therapy. These data support the application of ctDNA in this early phase trial setting where broad genomic profiling of contemporaneous tumor material enhances patient stratification to novel therapies and provides a practical template for bringing routinely applied blood-based analyses to the clinic.
The *Biographical Memoirs* series publishes extended scientific obituaries of Fellows of the Royal Society. These carefully researched and creatively written memoirs of eminent mathematical, ...physical, biological and medical scientists and engineers are often written by a close colleague or research collaborator. Each memoir is intended to provide an accessible overview of the subject’s scientific achievements, as well as shining a light on the very varied backgrounds of Fellows and the human side of scientific success. In this seminar, Editor-in-Chief Professor Malcolm Longair will speak about his experience of editing the memoirs since 2016 and talk about some of the highlights in the latest volume.
This article challenges Western clinical protocols to address trauma resulting from an automobile accident as the preferred method of treatment. Framed by feminist theory that research can be ...therapeutic, the authors use a feminist informed autoethnographic approach to identify and deconstruct oppressive practices embedded in the evidence-based medical approach to trauma. Writing from the standpoint of the therapist and patient, the authors chronicle their journey of clinical sessions over a 2-year period through the sharing of counseling/field notes. They put forward the proposition that the act of healing cannot be private, for risk of perpetuating current discourses of shame associated with trauma, but instead to make visible oppressive, genderized, and structural acts that are ignored by medical approaches. As such, the authors use their actual names, locations, and events in the article.
Schwannomatosis comprises a group of hereditary tumor predisposition syndromes characterized by, usually benign, multiple nerve sheath tumors, which frequently cause severe pain that does not ...typically respond to drug treatments. The most common schwannomatosis‐associated gene is NF2, but SMARCB1 and LZTR1 are also associated. There are still many cases in which no pathogenic variants (PVs) have been identified, suggesting the existence of as yet unidentified genetic risk factors. In this study, we performed extended genetic screening of 75 unrelated schwannomatosis patients without identified germline PVs in NF2, LZTR1, or SMARCB1. Screening of the coding region of DGCR8, COQ6, CDKN2A, and CDKN2B was carried out, based on previous reports that point to these genes as potential candidate genes for schwannomatosis. Deletions or duplications in CDKN2A, CDKN2B, and adjacent chromosome 9 region were assessed by multiplex ligation‐dependent probe amplification analysis. Sequencing analysis of a patient with multiple schwannomas and melanomas identified a novel duplication in the coding region of CDKN2A, disrupting both p14ARF and p16INK4a. Our results suggest that none of these genes are major contributors to schwannomatosis risk but the possibility remains that they may have a role in more complex mechanisms for tumor predisposition.
Mutations in the SMARCB1 gene are involved in several human tumor-predisposing syndromes. They were established as an underlying cause of the tumor suppressor syndrome schwannomatosis in 2008. There ...is a much higher rate of mutation detection in familial disease than in sporadic disease. We have performed extensive genetic testing on a cohort of familial and sporadic patients who fulfilled clinical diagnostic criteria for schwannomatosis. In our updated cohort, we identified novel mutations within the SMARCB1 gene as well as several recurrent mutations. Of the schwannomatosis screens reported to date, including those in our updated cohort, SMARCB1 mutations have been found in 45% of familial probands and 9% of sporadic patients. The exon 1 mutation, c.41C>A p.Pro14His (10% in our series), and the 3′ untranslated region mutation, c.*82C>T (27%), are the most common changes reported in patients with schwannomatosis to date, indicating the presence of mutation hot spots at both 5′ and 3′ portions of the gene. Comparison with germline SMARCB1 mutations in patients with rhabdoid tumors showed that the schwannomatosis mutations were significantly more likely to occur at either end of the gene and be nontruncating mutations ( P < 0.0001). SMARCB1 mutations are found in a significant proportion of schwannomatosis patients, and an even higher proportion of rhabdoid patients. Whereas SMARCB1 alone seems to account for rhabdoid disease, there is likely to be substantial heterogeneity in schwannomatosis even for familial disease. There is a clear genotype–phenotype correlation, with germline rhabdoid mutations being significantly more likely to be centrally placed, involve multiple exon deletions, and be truncating mutations.
Sandawe Eaton, Helen
Journal of the International Phonetic Association,
12/2006, Letnik:
36, Številka:
2
Journal Article
Recenzirano
Odprti dostop
The Sandawe language is spoken in the Kondoa district of central Tanzania by approximately 40,000 people. Sandawe has been widely assumed to be a member of the Khoisan language family, but recent ...research has cast doubt on the position that such a family exists (Güldemann & Vossen 2000). The Sandawe language can be divided into an eastern variety and a western variety. The differences between these two varieties are slight and gradual. The orthography used in the following description was decided upon in 2002 by a group of Sandawe speakers representing different parts of the language area. Early research on Sandawe phonetics and phonology was undertaken by Dempwolff (1916) and Copland (1938). More recent studies are found in Tucker & Bryan (1977), Elderkin (1989, 1992), Wright, Maddieson, Ladefoged & Sands (1995), Maddieson, Ladefoged & Sands (1999) and Hunziker, Hunziker & Eaton (2005).
Sandawe (Tanzania) exhibits numerous different clause linkage strategies. Categorising these strategies according to the traditional distinction between coordination and subordination is challenging ...as Sandawe has an atypical system of marking the subject and TAM of a clause. Furthermore, as discussed in Haiman and Thompson (1984), the concept of ‘subordination’ in clause linkage is itself problematic and needs to be rigorously defined in order to be useful and consistently applicable cross-linguistically. This paper presents a formal typology of Sandawe clause linkage using first Dixon’s (2006) three-way division of complex sentences into (i) coordinate and non-embedded subordinate construction, (ii) relative clauses and (iii) complement clauses. The first of these categories is then further classified with reference to the composite approaches to subordination found in Haiman and Thompson (1984) and Lehmann (1988).
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