170,062 research outputs found
South African human genes in health and disease : a molecular genetics approach
No full textCITATION: Boyd, C. D., Beighton, P. & Mathew, C. 1984. South African human genes in health and disease : a molecular genetics approach. South African Medical Journal, 65:683-686.The original publication is available at http://www.samj.org.zaRecombinant DNA technology is playing an increasingly important role in diagnostic confirmation, carrier detection and the prenatal diagnosis of inherited disorders. This article summarizes current progress in the application of this technology to clinically important genetic conditions in South Africa and outlines its potential role in the future practice of medical genetics in this country.Publisher’s versio
Reasoning with qualitative data: using retroduction with transcript data
No full textThis dataset was collected as part of a research project designed to understand students’ and educators’ views about academic writing. The data is provided by Dr. Christian Beighton from Canterbury Christ Church University’s Department of Post-Compulsory Education in the UK. The example focuses on how academic writing is described by interviewees and shows how we can reason about data in a range of ways. We discuss three common approaches to reasoning, comparing deductive and inductive approaches and shows how a retroductive approach can be used with this data to develop original perspectives on qualities data. The dataset file is accompanied by a teaching guide and a student guide
HYPERMOBILITY AS MEASURED BY THE BEIGHTON HYPERMOBILITY TEST IS NOT PREDICTIVE OF HAND GRIP STRENGTH IN YOUNG ADULTS
No full textPurpose: Past literature has suggested that benign joint hypermobility is related to reduced strength, reduced proprioception and greater risk of musculoskeletal injury. This study aimed to determine any relationship between benign joint hypermobility and hand grip strength in young adults. Methods: A convenience sample of 12 adults aged 18 35 were tested for joint hypermobility using the nine-point Beighton Hypermobility Criteria. Their hand grip strength was also tested using a dynamometer. To achieve 0.8 power and < 0:05 significance, 120 participants were required. Results: The results determined that benign joint hypermobility and hand grip strength were not related. Many participants demonstrated hypermobility in joints other than those tested by the Beighton criteria. Conclusion: Benign joint hypermobility, according to the Beighton criteria, and hand grip strength were not related. Hypermobility of the shoulders and interphalangeal joints were not assessed, and these joints may be hypermobile even when an individual's results are negative by the Beighton criteria
Towards identifying the ADRP gene in a large South African family with retinitis pigmentosa
No full textBibliography: leaves 162-190.The present study was initiated with the aim of elucidating the molecular genetic basis of the RP phenotype segregating in a large SA family of British origin. The family is one of the largest pedigrees from which DNA is archived in the Department, and the pedigree structure and ADRP phenotype will be discussed in detail in chapter two
Sex differences in the nine-point Beighton hypermobility test scores
No full textJoint hypermobility syndromes are often misinterpreted and wrongly diagnosed. Widely accepted naming such as Heritable Disorder of Connective Tissue has been shown to manifest features that closely overlap with better known disorders such as Marfan and Ehlers-Danlos syndromes and Osteogenesis Imperfecta. Currently the widely accepted - all-inclusive - diagnosis for generalised hypermobility is known as Benign Joint Hypermobility Syndrome (BJHS). People that do not have pain in their joints but still have lax joints are just considered to be hypermobile. It is currently understood that these are genetic-based conditions where connective tissue proteins such as collagen are formed differently. This results in the joints, muscles, tendons and ligaments being laxer and more fragile than is the case in non-hypermobile individuals. The aim of this study was to investigate possible differences in the occurrence of BJHS between males and females from a representative sample of a general population (aged 18-25). Testing was done on 300 recruits and 180 university students. The sample consisted of 55% males and 45% females. All subjects were tested using the 9-point Beighton criteria for diagnosis of BJHS, with scores of 4/9 and greater being indicative of BJHS. All data were pooled and differences were observed when comparing male and female Beighton test scores. Results showed 36.41% incidence for females compared to 13.96% for males (p ≤ 0.05). These differences may be due to hormonal influence on the laxity of tendons and ligaments. Furthermore it can also question the efficiency with which the Beighton score distinguishes between BJHS and general joint flexibility.http://www.ajol.info/journal_index.php?jid=153&ab=ajpher
Molecular genetics external quality assessment pilot scheme for KRAS analysis in metastatic colorectal cancer
No full textLaboratories are increasingly required to perform molecular tests for the detection of mutations in the KRAS gene in metastatic colorectal cancers to allow better clinical management and more effective treatment for these patients. KRAS mutation status predicts a patient's likely response to the monoclonal antibody cetuximab. To provide a high standard of service, these laboratories require external quality assessment (EQA) to monitor the level of laboratory output and measure the performance of the laboratory against other service providers. National External Quality Assurance Services for Molecular Genetics provided a pilot EQA scheme for KRAS molecular analysis in metastatic colorectal cancers during 2009. Very few genotyping errors were reported by participating laboratories; however, the reporting nomenclature of the genotyping results varied considerably between laboratories. The pilot EQA scheme highlighted the need for continuing EQA in this field which will assess the laboratories' ability not only to obtain accurate, reliable results but also to interpret them safely and correctly ensuring that the referring clinician has the correct information to make the best clinical therapeutic decision for their patient
Under pressure: inspection regimes and the institutionalisation of failure
No full textBlog post about news that a group of teachers from Kent and Medway has written to Ofsted, the regulator for the education sector, follows the suicide of headteacher Ruth Perry, whose death in March 2023 has been linked to an impending Ofsted judgment.
Perry’s death has revived long-standing criticisms about how various parts of the education sector are regulated. Critics argue that that bodies such as Ofsted are not themselves as effective as we might like: in a recent article (Beighton and Naz, 2023) we discuss how inspections can, in Further Education contexts, be “gamed” by those involved. Often, our data suggests, inspections represent a chance to display artificial practices honed precisely in order to meet expectations while having little or no impact on the substance of the teaching and learning taking place
Sex differences in the nine-point Beighton hypermobility test scores
No full textJoint hypermobility syndromes are often misinterpreted and wrongly diagnosed. Widely accepted naming such as Heritable Disorder of Connective Tissue has been shown to manifest features that closely overlap with better known disorders such as Marfan and Ehlers-Danlos syndromes and Osteogenesis Imperfecta. Currently the widely accepted ―all-inclusive‖ diagnosis for generalised hypermobility is known as Benign Joint Hypermobility Syndrome (BJHS). People that do not have pain in their joints but still have lax joints are just considered to be hypermobile. It is currently understood that these are genetic-based conditions where connective tissue proteins such as collagen are formed differently. This results in the joints, muscles, tendons and ligaments being laxer and more fragile than is the case in non-hypermobile individuals. The aim of this study was to investigate possible differences in the occurrence of BJHS between males and females from a representative sample of a general population (aged 18-25). Testing was done on 300 recruits and 180 university students. The sample consisted of 55% males and 45% females. All subjects were tested using the 9 - point Beighton criteria for diagnosis of BJHS, with scores of 4/9 and greater being indicative of BJHS. All data were pooled and differences were observed when comparing male and female Beighton test scores. Results showed 36.41% incidence for females compared to 13.96% for males (p ≤ 0.05). These differences maybe due to hormonal influence on the laxity of tendons and ligaments. Furthermore it can also question the efficiency with which the Beighton score distinguishes between BJHS and general joint flexibility.Keywords: Hypermobility, sex differences, Benign Joint Hypermobility Syndrome
Going Beyond Counting First Authors in Author Co-citation Analysis
No full textThe present study examines one of the fundamental aspects of author co-citation analysis (ACA) - the way co-citation
counts are defined. Co-citation counting provides the data on which all subsequent statistical analyses and mappings
are based, and we compare ACA results based on two different types of co-citation counting - the traditional type that
only counts the first one among a cited work's authors on the one hand and a non-traditional type that takes into
account the first 5 authors of a cited work on the other hand. Results indicate that the picture produced through this non-traditional author co-citation counting contains more coherent author groups and is therefore considerably clearer. However, this picture represents fewer specialties in the research field being studied than that produced through the traditional first-author co-citation counting when the same number of top-ranked authors is selected and analyzed. Reasons for these effects are discussed
How parents describe the positive aspects of parenting a child who has intellectual disabilities : a systematic review and narrative synthesis
No full textBackground:
Identifying what parents describe to be positive about parenting their child who has intellectual disabilities is important for professional practice and how parents can be supported over a lifespan.
Method:
Studies where parents describe the positive aspects of parenting a child with intellectual disabilities were identified via electronic databases searches and analysed in a narrative synthesis.
Results:
Twenty-two studies were included in the review. Positive aspects were defined and measured differently across the studies but eight consistent themes emerged that showed the construct to be multifaceted with most themes relating to the intrapersonal orientation of the parent.
Conclusion:
There is evidence that parents do identify positive aspects of parenting their child with intellectual disabilities, however the construct is poorly defined, not measured in a similar fashion across all studies and lacks theoretical underpinning. Evidence of factors likely to predict a parent’s ability to identify positive aspects is inconclusive.
This is the peer reviewed version of the following article: Wills, J., and Beighton, C. (2019). How parents describe the positive aspects of parenting a child who has intellectual disabilities: a systematic review and narrative synthesis. Journal of Applied Research in Intellectual Disabilities, which has been published in final form at [xxxxxxx]. This article may be used for non-commercial purposes in accordance with Wiley Terms and Conditions for Use of Self-Archived Versions
- …
