Liver transplantation for type IV glycogen storage disease

TYPE IV glycogen storage disease is a rare autosomal recessive disorder (also called Andersen's disease1 or amylopectinosis) in which the activity of branching enzyme alpha-1, 4-glucan: alpha-1, 4-glucan 6-glucosyltransferase is deficient in the liver as well as in cultured skin fibroblasts and other tissues.2,3 This branching enzyme is responsible for creating branch points in the normal glycogen molecule. In the relative or absolute absence of this enzyme, an insoluble and irritating form of glycogen, an amylopectin-like polysaccharide that resembles plant starch, accumulates in the cells. The amylopectin-like form is less soluble than normal glycogen, with longer outer and inner chains. © 1991, Massachusetts Medical Society. All rights reserved

The effect of a full bladder on proportions of diagnostic ultrasound studies in children with suspected appendicitis

Objectives: We examined the effect of a full bladder on proportions of diagnostic ultrasound (US) studies in children with suspected appendicitis. We also examined the effect of a full bladder on proportions of fully visualized ovaries on US in children with suspected appendicitis. Methods: We conducted a retrospective health record review of children aged 2-17 years presenting to a tertiary pediatric emergency department (ED) with suspected appendicitis who had an ultrasound performed. We compared proportions of diagnostic US studies in children with full and sub-optimally filled bladders. We also compared proportions of ovarian visualization in females with full and sub-optimally filled bladders. Results: 678 children were included in our final analysis. The proportion of diagnostic US studies did not vary significantly between groups with a full (132/283, 47%, 95% confidence interval [CI] 38%-56%) or sub-optimally filled bladder (205/ 395, 52%, 95% CI 47%-57%) (p = 0.17). Rates of ovarian visualization were higher in females with a full bladder (196/ 205, 96%, 95% CI 93%-99%) compared to those with a suboptimally filled bladder (180/223, 81%, 95% CI 76%-86%) (p\u3c0.01). Conclusions: Administrators and clinical decision makers should consider removing routine bladder filling practice from current pediatric appendicitis protocols in males and in pre-pubertal females where ovarian pathology is not suspected. Selective bladder filling prior to US should be performed in females when ovarian pathology is suspected

Net carbon dioxide emissions from an eroding Atlantic blanket bog

The net impact of greenhouse gas emissions from degraded peatland environments on national Inventories and subsequent mitigation of such emissions has only been seriously considered within the last decade. Data on greenhouse gas emissions from special cases of peatland degradation, such as eroding peatlands, are particularly scarce. Here, we report the first eddy covariance-based monitoring of carbon dioxide (CO2) emissions from an eroding Atlantic blanket bog. The CO2 budget across the period July 2018–November 2019 was 147 (± 9) g C m−2. For an annual budget that contained proportionally more of the extreme 2018 drought and heat wave, cumulative CO2 emissions were nearly double (191 g C m−2) of that of an annual period without drought (106 g C m−2), suggesting that direct CO2 emissions from eroded peatlands are at risk of increasing with projected changes in temperatures and precipitation due to global climate change. The results of this study are consistent with chamber-based and modelling studies that suggest degraded blanket bogs to be a net source of CO2 to the atmosphere, and provide baseline data against which to assess future peatland restoration efforts in this region

Patients report improvements in continuity of care when quality of life assessments are used routinely in oncology practice: Secondary outcomes of a randomised controlled trial.

INTRODUCTION AND AIM: In a randomised trial investigating the effects of regular use of health-related quality of life (HRQOL) in oncology practice, we previously reported an improvement in communication (objective analysis of recorded encounters) and patient well-being. The secondary aims of the trial were to measure any impact on patient satisfaction and patients' perspectives on continuity and coordination of their care. METHODS: In a prospective trial involving 28 oncologists, 286 cancer patients were randomised to: (1) intervention arm: regular touch-screen completion of HRQOL with feedback to physicians; (2) attention-control arm: completion of HRQOL without feedback; and (3) control arm: no HRQOL assessment. Secondary outcomes were patients' experience of continuity of care (Medical Care Questionnaire, MCQ) including 'Communication', 'Coordination' and 'Preferences to see usual doctor' subscales, patients' satisfaction, and patients' and physicians' evaluation of the intervention. Analysis employed mixed-effects modelling, multiple regression and descriptive statistics. RESULTS: Patients in the intervention arm rated their continuity of care as better than the control group for 'Communication' subscale (p=0.03). No significant effects were found for 'Coordination' or 'Preferences to see usual doctor'. Patients' evaluation of the intervention was positive. More patients in the intervention group rated the HRQOL assessment as useful compared to the attention-control group (86% versus 29%), and reported their doctors considered daily activities, emotions and quality of life. CONCLUSION: Regular use of HRQOL measures in oncology practice brought changes to doctor-patient communication of sufficient magnitude and importance to be reported by patients. HRQOL data may improve care through facilitating rapport and building inter-personal relationships

The potential for modelling peatland habitat condition in Scotland using long-term MODIS data

Funding: All James Hutton Institute authors are supported by the Scottish Government’s Rural and Environment Research and Analysis Directorate under the current Strategic Research Programme (2016-2021). Sally Johnson, Patricia Bruneau and Louise Ross did not receive any specific grant from funding agencies in the public, commercial, or not-for-profit sectors for this project. The peat spatial extent model was created in part within a UK Government – Department for Business, Energy and Industrial Strategy-funded project (TRN860/07/2014, Scoping the use of the methodology set out in Chapters 2 and 3 of the ‘2013 Supplement to the 2006 IPCC Guidelines for National Greenhouse Gas Inventories: Wetlands in the UK GHG Inventory: Land Use, Land Use Change and Forestry (LULUCF)), with further updates created within the Strategic Research Programme (2016-2021) funding.Peer reviewedPostprin

Animation and adults: between the virtual and social reality

In our modern societies, the reality that we live is continuously transformed by technology, different ways of communication and multiple information, creating a (new) virtual reality. How is our social world linked to the virtual world? Animated films may help us to discover and understand this interface, in which their boundaries may not be clear. What we call human reality approaches fantasy realms in the virtual worlds. The aim of this study is to explore what animated films transmit to an adult population - what they feel and what they value in animated films, trying to understand the importance of animated films in adults' lives. It is also intended to explore which technologies are most used to consult information about animated films, and which are the most important reasons for choosing an animated film, instead of other styles of movies. Our study consists in the development of two focus groups, with adult participants, between 25 and 35 years. This study is part of a master's thesis that is under development. Through the focus group we aim to obtain data and gather knowledge about our research topic. The results will help us to verify the most relevant factors and indicating the items to include in a questionnaire that will be used in a next study.info:eu-repo/semantics/acceptedVersio

Brentuximab vedotin in relapsed/refractory Hodgkin lymphoma post-autologous stem cell transplant : a cost-effectiveness analysis in Scotland

OBJECTIVE: To evaluate cost-effectiveness of brentuximab vedotin in patients with relapsed/refractory Hodgkin lymphoma who have received autologous stem cell transplantation, from a Scottish healthcare payer perspective. METHODS: A Microsoft Excel-based partitioned survival model comprising three health states (progression-free survival [PFS], post-progression survival, and death) was developed. Relevant comparators were chemotherapy with or without radiotherapy (C/R) and C/R with intent to allogeneic hematopoietic stem cell transplantation (alloSCT). Data were obtained from the pivotal phase II single-arm trial in 102 patients (SG035-0003; NCT00848926), a systematic literature review and clinical expert opinions (where empirical evidence was unavailable). PFS and overall survival for brentuximab vedotin were estimated using 5-year follow-up data from SG035-0003, and extrapolated using event rates observed for comparator treatments from published survival data. Resource use included drug acquisition and administration; alloSCT; treatment of adverse events; and long-term follow-up. Deterministic and probabilistic sensitivity analyses were conducted to evaluate the impact of uncertainty. RESULTS: In the base case, the incremental cost-effectiveness ratio (ICER) for brentuximab vedotin was £38,769 per quality-adjusted life year (QALY) vs C/R, whereas C/R with intent to alloSCT was dominated by brentuximab vedotin. ICERs for brentuximab vedotin generated by the deterministic sensitivity analysis ranged between £32,000-£54,000 per QALY. Including productivity benefits reduced the ICER to £28,881 per QALY. LIMITATIONS: Limitations include lack of comparative data from this single arm study and the heterogeneous population. Inconsistent baseline characteristic reporting across studies prevented complete assessment of heterogeneity and the extent of potential bias in clinical and cost-effectiveness estimates. CONCLUSIONS: Although the base case ICER is above the threshold usually applied in Scotland, it is relatively low compared with other orphan drugs, and lower than the ICER generated using a previous data cut of SG035-0003 that informed a positive recommendation from the Scottish Medicines Consortium, under its decision-making framework for assessment of ultra-orphan medicines

Key Role of Mfd in the Development of Fluoroquinolone Resistance in Campylobacter jejuni

Campylobacter jejuni is a major food-borne pathogen and a common causative agent of human enterocolitis. Fluoroquinolones are a key class of antibiotics prescribed for clinical treatment of enteric infections including campylobacteriosis, but fluoroquinolone-resistant Campylobacter readily emerges under the antibiotic selection pressure. To understand the mechanisms involved in the development of fluoroquinolone-resistant Campylobacter, we compared the gene expression profiles of C. jejuni in the presence and absence of ciprofloxacin using DNA microarray. Our analysis revealed that multiple genes showed significant changes in expression in the presence of a suprainhibitory concentration of ciprofloxacin. Most importantly, ciprofloxacin induced the expression of mfd, which encodes a transcription-repair coupling factor involved in strand-specific DNA repair. Mutation of the mfd gene resulted in an approximately 100-fold reduction in the rate of spontaneous mutation to ciprofloxacin resistance, while overexpression of mfd elevated the mutation frequency. In addition, loss of mfd in C. jejuni significantly reduced the development of fluoroquinolone-resistant Campylobacter in culture media or chickens treated with fluoroquinolones. These findings indicate that Mfd is important for the development of fluoroquinolone resistance in Campylobacter, reveal a previously unrecognized function of Mfd in promoting mutation frequencies, and identify a potential molecular target for reducing the emergence of fluoroquinolone-resistant Campylobacter

The influence of systemic inflammation, dietary intake and stage of disease on rate of weight loss in patients with gastro-oesophageal cancer

Although weight loss is often a dominant symptom in patients with upper gastrointestinal malignancy, there is a lack of objective evidence describing changes in nutritional status and potential associations between weight loss, food intake, markers of systemic inflammation and stage of disease in such patients. Two hundred and twenty patients diagnosed with gastric/oesophageal cancer were studied. Patients underwent nutritional assessment consisting of calculation of body mass index, measurement of weight loss, dysphagia scoring and estimation of dietary intake. Serum acute-phase protein concentrations were determined by enzyme-linked immunosorbent assay. In all, 182 (83%) patients had lost weight at diagnosis (median loss, 7% body weight). Weight loss was associated with poor performance status, advanced disease stage, dysphagia, reduced dietary intake and elevated serum C-reactive protein (CRP) concentrations. Multiple regression identified dietary intake (estimate of effect, 38%), serum CRP concentrations (estimate of effect, 34%) and stage of disease (estimate of effect, 28%) as independent variables in determining degree of weight loss. Mechanisms other than reduced dietary intake or mechanical obstruction by the tumour appear to be involved in the nutritional decline in patients with gastro-oesophageal malignancy. Recognition that systemic inflammation plays a role in nutritional depletion may inform the development of appropriate therapeutic strategies to ameliorate weight loss, making patients more tolerant of cancer-modifying treatments such as chemotherapy