Effects of Test-Driven Development : A Comparative Analysis of Empirical Studies

Test-driven development is a software development practice where small sections of test code are used to direct the development of program units. Writing test code prior to the production code promises several positive effects on the development process itself and on associated products and processes as well. However, there are few comparative studies on the effects of test-driven development. Thus, it is difficult to assess the potential process and product effects when applying test-driven development. In order to get an overview of the observed effects of test-driven development, an in-depth review of existing empirical studies was carried out. The results for ten different internal and external quality attributes indicate that test-driven development can reduce the amount of introduced defects and lead to more maintainable code. Parts of the implemented code may also be somewhat smaller in size and complexity. While maintenance of test-driven code can take less time, initial development may last longer. Besides the comparative analysis, this article sketches related work and gives an outlook on future research.Peer reviewe

Clinical-genetic features and peculiar muscle histopathology in infantile DNM1L-related mitochondrial epileptic encephalopathy

Mitochondria are highly dynamic organelles, undergoing continuous fission and fusion. The DNM1L gene encodes for the DRP1 protein, an evolutionary conserved member of the dynamin family, responsible for fission of mitochondria, and having a role in the division of peroxisomes, as well. DRP1 impairment is implicated in several neurological disorders and associated with either de novo dominant or compound heterozygous mutations. In five patients presenting with severe epileptic encephalopathy we identified 5 de novo dominant DNM1L variants, the pathogenicity of which was validated in a yeast model. Fluorescence microscopy revealed abnormally elongated mitochondria and aberrant peroxisomes in mutant fibroblasts, indicating impaired fission of these organelles. Moreover, a very peculiar finding in our cohort of patients was the presence, in muscle biopsy, of core like areas with oxidative enzyme alterations, suggesting an abnormal distribution of mitochondria in the muscle tissue

A systematic review of adolescent physiological development and its relationship with health-related behaviour:a protocol

BACKGROUND: At any one time, there are one billion people worldwide who are in the second decade of their life, and 1.8 billion in the 10–24 age range. Whilst a great deal of focus has been placed on healthy early years development, the adolescent years are also a unique period of opportunity: exposure to health-influencing behaviours such as alcohol consumption or cigarette smoking, may serve to establish patterns that have significant health consequences in later life. Although there is often an emphasis on risk-taking and detrimental health behaviours during adolescence, these years also provide significant opportunities for behaviour to be shaped in positive ways that may improve longer term health outcomes. However, it is firstly important to understand the complex physiological changes that are taking place within the human body during this period and their relationship with health-related behaviour. Such knowledge can help to inform health policy and intervention development. AIM: The aim of this study is to gain a comprehensive understanding of the relationship between physiological development and health-related behaviours in adolescence. METHODS: The principles of an integrative review will be used. Such reviews are of use where research has emerged in different fields, to combine existing knowledge and produce a more extensive understanding. Studies from a range of different methodological approaches, published or unpublished, will be included. A range of databases and literature depositories will be searched using a pre-defined search strategy. The review will include studies that focus on adolescents (nominally, those aged 10–24 years). We will seek papers that focus on both physiological development and health behaviour, or papers focusing solely on physiological development if there are clear implications for health behaviour. Studies with a focus on participants with specific health conditions will be excluded. Two reviewers will independently screen potential studies for eligibility and quality; members of the project team will act as third reviewers in the case of uncertainty or discrepancy. Further analyses (e.g. meta-analysis, meta-synthesis, meta-summary) will be decided upon, and sub-set analyses carried out. Finally, an integrative summation will be produced, giving a critical analysis of the results and providing conclusions and recommendations. ELECTRONIC SUPPLEMENTARY MATERIAL: The online version of this article (doi:10.1186/s13643-015-0173-5) contains supplementary material, which is available to authorized users

Expanded phenotype of AARS1-related white matter disease.

Purpose Recent reports of individuals with cytoplasmic transfer RNA (tRNA) synthetase-related disorders have identified cases with phenotypic variability from the index presentations. We sought to assess phenotypic variability in individuals with AARS1-related disease. Methods A cross-sectional survey was performed on individuals with biallelic variants in AARS1. Clinical data, neuroimaging, and genetic testing results were reviewed. Alanyl tRNA synthetase (AlaRS) activity was measured in available fibroblasts. Results We identified 11 affected individuals. Two phenotypic presentations emerged, one with early infantile–onset disease resembling the index cases of AARS1-related epileptic encephalopathy with deficient myelination (n = 7). The second (n = 4) was a later-onset disorder, where disease onset occurred after the first year of life and was characterized on neuroimaging by a progressive posterior predominant leukoencephalopathy evolving to include the frontal white matter. AlaRS activity was significantly reduced in five affected individuals with both early infantile–onset and late-onset phenotypes. Conclusion We suggest that variants in AARS1 result in a broader clinical spectrum than previously appreciated. The predominant form results in early infantile–onset disease with epileptic encephalopathy and deficient myelination. However, a subgroup of affected individuals manifests with late-onset disease and similarly rapid progressive clinical decline. Longitudinal imaging and clinical follow-up will be valuable in understanding factors affecting disease progression and outcome

Towards successful coordination of electronic health record based-referrals: a qualitative analysis

<p>Abstract</p> <p>Background</p> <p>Successful subspecialty referrals require considerable coordination and interactive communication among the primary care provider (PCP), the subspecialist, and the patient, which may be challenging in the outpatient setting. Even when referrals are facilitated by electronic health records (EHRs) (<it>i.e</it>., e-referrals), lapses in patient follow-up might occur. Although compelling reasons exist why referral coordination <it>should </it>be improved, little is known about which elements of the complex referral coordination process should be targeted for improvement. Using Okhuysen & Bechky's coordination framework, this paper aims to understand the barriers, facilitators, and suggestions for improving communication and coordination of EHR-based referrals in an integrated healthcare system.</p> <p>Methods</p> <p>We conducted a qualitative study to understand coordination breakdowns related to e-referrals in an integrated healthcare system and examined work-system factors that affect the timely receipt of subspecialty care. We conducted interviews with seven subject matter experts and six focus groups with a total of 30 PCPs and subspecialists at two tertiary care Department of Veterans Affairs (VA) medical centers. Using techniques from grounded theory and content analysis, we identified organizational themes that affected the referral process.</p> <p>Results</p> <p>Four themes emerged: lack of an institutional referral policy, lack of standardization in certain referral procedures, ambiguity in roles and responsibilities, and inadequate resources to adapt and respond to referral requests effectively. Marked differences in PCPs' and subspecialists' communication styles and individual mental models of the referral processes likely precluded the development of a <it>shared </it>mental model to facilitate coordination and successful referral completion. Notably, very few barriers related to the EHR were reported.</p> <p>Conclusions</p> <p>Despite facilitating information transfer between PCPs and subspecialists, e-referrals remain prone to coordination breakdowns. Clear referral policies, well-defined roles and responsibilities for key personnel, standardized procedures and communication protocols, and adequate human resources must be in place before implementing an EHR to facilitate referrals.</p

Novel NDUFA12 variants are associated with isolated complex I defect and variable clinical manifestation.

Isolated biochemical deficiency of mitochondrial complex I is the most frequent signature amongst mitochondrial diseases and is associated with a wide variety of clinical symptoms. Leigh syndrome represents the most frequent neuroradiological finding in patients with complex I defect and >80 monogenic causes have been involved in the disease. In this report, we describe 7 patients from four unrelated families harbouring novel NDUFA12 variants, 6 of them presenting with Leigh syndrome. Molecular genetic characterization was performed using next generation sequencing combined with the Sanger method. Biochemical and protein studies were achieved by enzymatic activities, blue native gel electrophoresis and Western blotting. All patients displayed novel homozygous mutations in the NDUFA12 gene leading to the virtual absence of the corresponding protein. Surprisingly, despite in none of the analyzed patients NDUFA12 protein was detected, they present a different onset and clinical course of the disease. Our report expands the array of genetic alterations in NDUFA12 and underlines phenotype variability associated with NDUFA12 defect. This article is protected by copyright. All rights reserved

Organizing risk: organization and management theory for the risk society

Risk has become a crucial part of organizing, affecting a wide range of organizations in all sectors. We identify, review and integrate diverse literatures relevant to organizing risk, building on an existing framework that describes how risk is organized in three ‘modes’ – prospectively, in real-time, and retrospectively. We then identify three critical issues in the existing literature: its fragmented nature; its neglect of the tensions associated with each of the modes; and its tendency to assume that the meaning of an object in relation to risk is singular and stable. We provide a series of new insights with regard to each of these issues. First, we develop the concept of a risk cycle that shows how organizations engage with all three modes and transition between them over time. Second, we explain why the tensions have been largely ignored and show how studies using a risk work perspective can provide further insights into them. Third, we develop the concept of risk translation to highlight the ways in the meanings of risks can be transformed and to identify the political consequences of such translations. We conclude the paper with a research agenda to elaborate these insights and ideas further