Naresuan University Journal
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Atopic Dermatitis and Respiratory Allergy: What is the Link.
No full textUnderstanding the aetiology and progression of atopic dermatitis and respiratory allergy may elucidate early preventative and management strategies aimed towards reducing the global burden of asthma and allergic disease. In this article, we review the current opinion concerning the link between atopic dermatitis and the subsequent progression of respiratory allergies during childhood and into early adolescence. Advances in machine learning and statistical methodology have facilitated the discovery of more refined definitions of phenotypes for identifying biomarkers. Understanding the role of atopic dermatitis in the development of respiratory allergy may ultimately allow us to determine more effective treatment strategies, thus reducing the patient and economic burden associated with these conditions
Clinical and molecular predictors of mortality in neurofibromatosis 2: a UK national analysis of 1192 patients.
No full textBACKGROUND: Neurofibromatosis 2 (NF2) is an autosomal-dominant tumour predisposition syndrome characterised by bilateral vestibular schwannomas, considerable morbidity and reduced life expectancy. Although genotype-phenotype correlations are well established in NF2, little is known about effects of mutation type or location within the gene on mortality. Improvements in NF2 diagnosis and management have occurred, but their effect on patient survival is unknown. METHODS: We evaluated clinical and molecular predictors of mortality in 1192 patients (771 with known causal mutations) identified through the UK National NF2 Registry. Kaplan-Meier survival and Cox regression analyses were used to evaluate predictors of mortality, with jackknife adjustment of parameter SEs to account for the strong intrafamilial phenotypic correlations that occur in NF2. RESULTS: The study included 241 deaths during 10 995 patient-years of follow-up since diagnosis. Early age at diagnosis and the presence of intracranial meningiomas were associated with increased mortality, and having a mosaic, rather than non-mosaic, NF2 mutation was associated with reduced mortality. Patients with splice-site or missense mutations had lower mortality than patients with truncating mutations (OR 0.459, 95% CI 0.213 to 0.990, and OR 0.196, 95% CI 0.213 to 0.990, respectively). Patients with splice-site mutations in exons 6-15 had lower mortality than patients with splice-site mutations in exons 1-5 (OR 0.333, 95% CI 0.129 to 0.858). The mortality of patients with NF2 diagnosed in more recent decades was lower than that of patients diagnosed earlier. CONCLUSIONS: Continuing advances in molecular diagnosis, imaging and treatment of NF2-associated tumours offer hope for even better survival in the future
Missed diagnostic opportunities and English general practice: a study to determine their incidence, confounding and contributing factors and potential impact on patients through retrospective review of electronic medical records
No full textBackground Patient safety research has focused largely on hospital settings despite the fact that in many countries, the majority of patient contacts are in primary care. The knowledge base about patient safety in primary care is developing but sparse and diagnostic error is a relatively understudied and an unmeasured area of patient safety. Diagnostic error rates vary according to how ‘error’ is defined but one suggested hallmark is clear evidence of ‘missed opportunity’ (MDOs) makes a correct or timely diagnosis to prevent them. While there is no agreed definition or method of measuring MDOs, retrospective manual chart or patient record reviews are a ‘gold standard’. This study protocol aims to (1) determine the incidence of MDOs in English general practice, (2) identify the confounding and contributing factors that lead to MDOs and (3) determine the (potential) impact of the detected MDOs on patients. Methods/Design We plan to conduct a two-phase retrospective review of electronic health records in the Greater Manchester (GM) area of the UK. In the first phase, clinician reviewers will calibrate their performance in identifying and assessing MDOs against a gold standard ‘primary reviewer’ through the use of ‘double’ reviews of records. The findings will enable a preliminary estimate of the incidence of MDOs in general practice, which will be used to calculate the number of records to be reviewed in the second phase in order to estimate the true incidence of MDO in general practice. A sample of 15 general practices is required for phase 1 and up to 35 practices for phase 2. In each practice, the sample will consist of 100 patients aged ≥18 years on 1 April 2013 who have attended a face-to-face ‘index consultation’ between 1 April 2013 and 31 March 2015. The index consultation will be selected randomly from each unique patient record, occurring between 1 July 2013 and 30 June 2014. Discussion There are no reliable estimates of safety problems related to diagnosis in English general practice. This study will lay the foundation for safety improvements in this area by providing a more reliable estimate of MDOs, their impact and their contributory factors
Real time chemical imaging of a working catalytic membrane reactor during oxidative coupling of methane
No full textWe report the results from an operando XRD-CT study of a working catalytic membrane reactor for the oxidative coupling of methane. These results reveal the importance of the evolving solid state chemistry during catalytic reaction, particularly the chemical interaction between the catalyst and the oxygen transport membrane
Tumour characteristics and survival in familial breast cancer prospectively diagnosed by annual mammography.
No full textWomen from breast cancer families without a demonstrable BRCA1/2 mutation were subjected to annual mammography from age 30 years onwards. One-hundred and ninety-eight patients were diagnosed prospectively with invasive breast cancer and followed for a total of 1513 years. Overall 10-year survival was 88 %. Together with our previous report that women in such kindreds had about twice the population risk of breast cancer, the combined conclusion was that the overall chances of developing breast cancer causing death within 10 years before 50 years of age was 1 % or less when subjected to annual mammography and current treatment. These are empirical prospective observations which may be used for genetic counselling. The majority (160/194 = 84 %) of patients had ER+ and/or low grade tumours with 92 % 10-year survival. One minor group of the patients had ER- tumours, another small group had high grade tumours with nodal spread, both groups were associated with worse prognosis, but the two groups were not mutually associated
