An unusual presentation of a Gastrointestinal stromal tumour (GIST)

<p>Abstract</p> <p>Background</p> <p>Gastrointestinal stromal tumours (GIST) are rare tumours, now more frequently identified with the new imaging modalities like computerised tomography (CT) and magnetic resonance imaging (MRI). We report a rare presentation of a GIST with an unusual diagnostic workup in a multidisciplinary setting leading to a definitive diagnosis and treatment.</p> <p>Case presentation</p> <p>A 55-year-old lady was admitted under the general surgeons, with 3-day history of abdominal pain, three-week history of loss of appetite and weight. The patient was sequentially investigated with ultrasonography, computerised tomography and finally selective angiogram in a multidisciplinary setting. The selective angiogram showed a GIST with intratumour bleed, leading to successful surgical excision and being recurrence free at 22 month follow up.</p> <p>Conclusion</p> <p>Clinical presentation of these tumours can be varied and gastrointestinal bleeding is the commonest mode described in the literature. The clinician needs to be aware of much more rare presentations of the GIST including an intra tumour bleed. A structured multidisciplinary approach would lead to successful diagnosis and treatment.</p

An Assessment of the Hydration Status of Recreational Endurance Athletes during Mountain Marathon Events.

Changes in hydration status have been shown to have deleterious effects on physiological functioning, physical performance, mental decision making, and subjective sensation of effort. This exploratory study assessed the hydration status of athletes taking part in mountain marathon events and the implications on performance, cognition and well-being markers. Twenty-nine male recreational athletes from the Original Mountain Marathon (OMM) and nineteen from the Longmynd Hike (LH) provided urine samples before, at mid-point (in the OMM) and after the events. Body mass; reaction time tests; and subjective ratings of well-being and effort were also collected/performed at these time points. Post-urine specific gravity (Usg) values [(OMM: 1.023 (range: 1.008 – 1.038) g/ml; LH: 1.024 (range: 1.014 – 1.035) g/ml] were significantly higher than pre-values [(OMM: 1.013 (range: 1.002 – 1.026) g/ml; LH: 1.013 (range: 1.002 – 1.026) g/ml] in both events (p 0.05). There was no association between hydration status and overall performance in the LH, whilst change in Usg from pre- to mid-event was positively associated with performance in the OMM (r = .561, p = 0.004). Whilst no associations were observed between hydration status and reaction time, rate of perceived exertion and subjective ratings of nausea showed positive associations with Usg. These findings suggest that although changes in hydration status of this level may not significantly affect performance, they can impact on participant sensations of effort and well-being

Macronutrient Consumption Prior to, and During, Mountain Marathon Events

Participation in ultra-endurance events such as mountain marathons is increasing, yet analysis of the nutritional intake and requirements of this group of athletes have received relatively little attention. This field study examined athletes’ food intake prior to, and during a mountain marathon event to assess compliance with recommendations and to identify associations with performance. Nineteen male athletes competing in the Longmynd Hike (LH) completed a 7-day food diary in the week prior to the event and a weighed food inventory of all items consumed during the event. Despite reported intentions to increase carbohydrate (CHO) consumption in the week prior to the event, there was no significant change in consumption across the week. The mean daily CHO intake of 4.5 g/kg/d was below that recommended to effectively enhance glycogen stores. CHO and energy consumption prior to the event were positively associated with performance [energy (kJ/kg/d): r = .56, p = 0.03; CHO (g/kg/d): r = .54, p = 0.04]. Energy and CHO consumption during the event were also positively correlated with performance [energy (kJ/kg/h): r = .80, p < 0.001; CHO (g/kg/h): r = .75, p = 0.001)], despite most participants again failing to meet recommendations for intake. Further research is needed to determine reasons for non-compliance with nutritional guidelines and to investigate to what extent type and timing of macronutrient intake during such events impacts on performance

Optimising use of electronic health records to describe the presentation of rheumatoid arthritis in primary care: a strategy for developing code lists

Background Research using electronic health records (EHRs) relies heavily on coded clinical data. Due to variation in coding practices, it can be difficult to aggregate the codes for a condition in order to define cases. This paper describes a methodology to develop ‘indicator markers’ found in patients with early rheumatoid arthritis (RA); these are a broader range of codes which may allow a probabilistic case definition to use in cases where no diagnostic code is yet recorded. Methods We examined EHRs of 5,843 patients in the General Practice Research Database, aged ≥30y, with a first coded diagnosis of RA between 2005 and 2008. Lists of indicator markers for RA were developed initially by panels of clinicians drawing up code-lists and then modified based on scrutiny of available data. The prevalence of indicator markers, and their temporal relationship to RA codes, was examined in patients from 3y before to 14d after recorded RA diagnosis. Findings Indicator markers were common throughout EHRs of RA patients, with 83.5% having 2 or more markers. 34% of patients received a disease-specific prescription before RA was coded; 42% had a referral to rheumatology, and 63% had a test for rheumatoid factor. 65% had at least one joint symptom or sign recorded and in 44% this was at least 6-months before recorded RA diagnosis. Conclusion Indicator markers of RA may be valuable for case definition in cases which do not yet have a diagnostic code. The clinical diagnosis of RA is likely to occur some months before it is coded, shown by markers frequently occurring ≥6 months before recorded diagnosis. It is difficult to differentiate delay in diagnosis from delay in recording. Information concealed in free text may be required for the accurate identification of patients and to assess the quality of care in general practice

Serotonin tranporter methylation and response to cognitive behaviour therapy in children with anxiety disorders

Anxiety disorders that are the most commonly occurring psychiatric disorders in childhood, are associated with a range of social and educational impairments and often continue into adulthood. Cognitive behaviour therapy (CBT) is an effective treatment option for the majority of cases, although up to 35-45% of children do not achieve remission. Recent research suggests that some genetic variants may be associated with a more beneficial response to psychological therapy. Epigenetic mechanisms such as DNA methylation work at the interface between genetic and environmental influences. Furthermore, epigenetic alterations at the serotonin transporter (SERT) promoter region have been associated with environmental influences such as stressful life experiences. In this study, we measured DNA methylation upstream of SERT in 116 children with an anxiety disorder, before and after receiving CBT. Change during treatment in percentage DNA methylation was significantly different in treatment responders vs nonresponders. This effect was driven by one CpG site in particular, at which responders increased in methylation, whereas nonresponders showed a decrease in DNA methylation. This is the first study to demonstrate differences in SERT methylation change in association with response to a purely psychological therapy. These findings confirm that biological changes occur alongside changes in symptomatology following a psychological therapy such as CBT

Tallness is associated with risk of testicular cancer: evidence for the nutrition hypothesis

The pathogenesis of testicular germ cell tumours (GCTs) is potentially influenced by high-energy nutrition during infancy. As adult height is a proxy for childhood nutrition, we investigated the role of nutrition in GCT pathogenesis by comparing stature of patients with healthy men. In a matched case–control study, 6415 patients with GCT were compared with healthy army conscripts (1:6 matching modus) with regard to height (cm) and body mass index (BMI; kg/m2). Statistical analysis involved tabulation of descriptive height measures and BMI. Conditional logistic regression models were used to quantify the association of GCT with height, with odds ratios (OR) adjusted for BMI. The literature was searched for studies on stature in GCT patients. Body size is significantly associated with risk of GCT, very tall men (>195 cm) having a GCT risk of OR=3.35 (95% confidence intervals (CI): 2.88–3.90; adjusted). Short stature is protective (OR=0.798; 95% CI: 0.68–0.93). Both histologic subgroups are associated with tallness. Of 16 previous reports, 7 were confirmative, 5 had null and 4 equivocal results. The association of stature with GCT risk accords with the nutrition hypothesis of GCT. This study expands the current view of GCT tumorigenesis by suggesting that high-calorie intake in childhood promotes GCT precursors originating in utero

The Clustering of Expressive Timing Within a Phrase in Classical Piano Performances by Gaussian Mixture Models

In computational musicology research, clustering is a common approach to the analysis of expression. Our research uses mathematical model selection criteria to evaluate the performance of clustered and non-clustered models applied to intra-phrase tempo variations in classical piano performances. By engaging different standardisation methods for the tempo variations and engaging different types of covariance matrices, multiple pieces of performances are used for evaluating the performance of candidate models. The results of tests suggest that the clustered models perform better than the non-clustered models and the original tempo data should be standardised by the mean of tempo within a phrase

Scaling properties of protein family phylogenies

One of the classical questions in evolutionary biology is how evolutionary processes are coupled at the gene and species level. With this motivation, we compare the topological properties (mainly the depth scaling, as a characterization of balance) of a large set of protein phylogenies with a set of species phylogenies. The comparative analysis shows that both sets of phylogenies share remarkably similar scaling behavior, suggesting the universality of branching rules and of the evolutionary processes that drive biological diversification from gene to species level. In order to explain such generality, we propose a simple model which allows us to estimate the proportion of evolvability/robustness needed to approximate the scaling behavior observed in the phylogenies, highlighting the relevance of the robustness of a biological system (species or protein) in the scaling properties of the phylogenetic trees. Thus, the rules that govern the incapability of a biological system to diversify are equally relevant both at the gene and at the species level.Comment: Replaced with final published versio