Miracle-dz/UniFAR-FTUs huggingface dataset:
Gastrointestinal Stromal Tumors Presenting as Omental Masses—A Clinicopathologic Analysis of 95 Cases

Gastrointestinal stromal tumors (GISTs), generally KIT-positive and KIT/PDGFRA mutation-driven mesenchymal neoplasms, most commonly originate from the stomach or small intestine, but in rare examples they involve the omentum. In this study, we analyzed 95 GISTs surgically designated as the omental masses. These tumors occurred in 49 males and 46 females with a median age of 60 years (range: 27 to 88 y). They formed single (n=51) or multiple masses (n=39); 5 cases were equivocal in this respect. Of the single tumors, 21 had no evidence of gastrointestinal tract involvement, 25 were attached to stomach, and 3 were attached to small intestine. Clinicopathologic parameters and prognosis of the 2 former groups were similar. Single tumor cases showed a median mitotic count of 2/50 HPFs and median tumor size was 14 cm. Their histologic features were similar to gastric GISTs in 22 cases, and to small intestinal GISTs in 6 cases. These tumors were KIT positive 38/41, CD34 positive 20/33, 8 had PDGFRA mutations, and 6 had KIT exon 11 mutations. The median survival was 129 months (range: 0 to 397 mo) and 14 patients were alive at the end of follow-up. Multiple tumor cases showed median mitotic count of 14/50 HPFs and the main tumor median size was 16 cm. The histologic features were similar to small intestinal GISTs in 21 cases and to gastric GISTs in 7 cases; small intestinal attachment or history of a previous small intestinal GIST were noted in 5 cases, whereas no tumor was attached to stomach. The multiple GISTs were KIT positive 23/24, CD34 positive 7/21, and 5 had KIT exon 11 mutations, 3 had KIT exon 9 mutations, and 2 had PDGFRA mutations. The median survival was for 8 months and all patients died. Omental GISTs are clinicopathologically heterogenous. Patients with solitary tumors usually have gastric GIST-like morphology and a better prognosis than those with multiple tumors, whose tumor usually has small intestinal GIST-like histology. Omental GISTs unattached to gastrointestinal tract often resemble gastric GISTs suggesting that they may be gastric GISTs directly extending or parasitically attached into the omentum, whereas multiple omental GISTs more often resemble small intestinal GISTs suggesting that they may be metastatic or detached from this source. KIT positive Cajal cells were not found in normal omental tissues failing to support the presence of these ancestral cells for GIST in the omentum.
Issues in Reproductive Health and Empowerment in Perinatal Women with Substance Use Disorders

&NA; This article describes perinatal drug dependent women's perspectives on pregnancy, contraception, knowledge of reproductive health, and communication with sexual partners. In this qualitative study, semi‐structured interviews were conducted with perinatal residential substance abuse treatment participants (n = 36) regarding their life experiences in the time just prior to drug treatment. Using an analytic framework to examine life dimensions, analysis of the biological and socio‐cultural dimensions and their effects was conducted and indicated that pregnancy and motherhood were motivational for women to enter treatment and to seek prenatal care. In addition, the data showed that the women were poorly informed about their reproductive health status and contraception, and experienced difficulty communicating about these issues with male partners. Recommendations for drug treatment and health care systems include strategies for: 1) expansion of women's “empowerment” in recovery to include knowledge and decision‐making skills regarding their reproductive health status and 2) development of cross‐disciplinary activities aimed at outreach, screening, and assessment of drug dependent women.
Influence of short-term inertial training on swimming performance in young swimmers

Abstract The aim of this study was to evaluate the influence of dry-land inertial training (IT) on muscle force, muscle power, and swimming performance. Fourteen young, national-level, competitive swimmers were randomly divided into IT and control (C) groups. The experiment lasted four weeks, during which time both groups underwent their regular swimming training. In addition, the IT group underwent IT using the Inertial Training Measurement System (ITMS) three times per week. The muscle groups involved during the upsweep phase of the arm stroke in front crawl and butterfly stroke were trained. Before and after training, muscle force and power were measured under IT conditions. Simultaneously with the biomechanical measurements on the ITMS, the electrical activity of the triceps brachii was registered. After four weeks of training, a 12.8% increase in the muscle force and 14.2% increase in the muscle power (p < .05) were noted in the IT group. Moreover, electromyography amplitude of triceps brachii recorded during strength measurements increased by 22.7% in the IT group. Moreover, swimming velocity in the 100 m butterfly and 50 m freestyle improved significantly following the four weeks of dry-land IT (−1.86% and −0.76%, respectively). Changes in the C group were trivial. Moreover, values of force and power registered during the ITMS test correlated negatively with the 100 m butterfly and 50 m freestyle swimming times (r value ranged from −.80 to −.91). These results suggest that IT can be useful in swimming practice.
No effect of acute and chronic supramaximal exercise on circulating levels of the myokine SPARC

Abstract Myokines may play a role in the health benefits of regular physical activity. Secreted protein acidic rich in cysteine (SPARC) is a pleiotropic myokine that has been shown to be released into the bloodstream by skeletal muscle in response to aerobic exercise. As there is evidence suggesting that SPARC release may be linked to glycogen breakdown and activation of 5’ adenosine monophosphate-activated protein kinase, we hypothesised that brief supramaximal exercise may also be associated with increased serum SPARC levels. In the present study, 10 participants (3 women; mean ± SD age: 21 ± 3 y, body mass index (BMI): 22 ± 3 kg m−2, and V˙O2max: 39 ± 6 mL kg−1 min−1) performed an acute bout of supramaximal cycle exercise (20-s Wingate sprint against 7.5% of body mass, with a 1-min warm-up and a 3-min cool-down consisting of unloaded cycling). Serum SPARC levels were determined pre-exercise as well as 0, 15, and 60 min post-exercise and corrected for plasma volume change. To determine whether regular exercise affected the acute SPARC response, participants repeated the acute exercise protocol three times per week for four weeks, and serum SPARC response to supramaximal exercise was reassessed after this period. Acute supramaximal exercise significantly decreased plasma volume (−10%; p < .001), but was not associated with a significant change in serum SPARC levels at either the pre-training or post-training testing sessions. In conclusion, in contrast to aerobic exercise, a single brief supramaximal cycle sprint is not associated with an increase in serum SPARC levels, suggesting that SPARC release is not related to skeletal muscle glycogen breakdown.
Postural stability, clicker reaction time and bow draw force predict performance in elite recurve archery

Abstract Recurve archery is an Olympic sport that requires extreme precision, upper body strength and endurance. The purpose of this research was to quantify how postural stability variables both pre- and post-arrow release, draw force, flight time, arrow length and clicker reaction time, collectively, impacted on the performance or scoring outcomes in elite recurve archery athletes. Thirty-nine elite-level recurve archers (23 male and 16 female; mean age = 24.7 ± 7.3 years) from four different countries volunteered to participate in this study prior to competing at a World Cup event. An AMTI force platform (1000Hz) was used to obtain centre of pressure (COP) measurements 1s prior to arrow release and 0.5s post-arrow release. High-speed footage (200Hz) allowed for calculation of arrow flight time and score. Results identified clicker reaction time, draw force and maximum sway speed as the variables that best predicted shot performance. Specifically, reduced clicker reaction time, greater bow draw force and reduced postural sway speed post-arrow release were predictors of higher scoring shots. It is suggested that future research should focus on investigating shoulder muscle tremors at full draw in relation to clicker reaction time, and the effect of upper body strength interventions (specifically targeting the musculature around the shoulder girdle) on performance in recurve archers.
Triangulation of the human, chimpanzee, and Neanderthal genome sequences identifies potentially compensated mutations

Triangulation of the human, chimpanzee, and Neanderthal genome sequences with respect to 44,348 disease‐causing or disease‐associated missense mutations and 1,712 putative regulatory mutations listed in the Human Gene Mutation Database was employed to identify genetic variants that are apparently pathogenic in humans but which may represent a “compensated” wild‐type state in at least one of the other two species. Of 122 such “potentially compensated mutations” (PCMs) identified, 88 were deemed “ancestral” on the basis that the reported wild‐type Neanderthal nucleotide was identical to that of the chimpanzee. Another 33 PCMs were deemed to be “derived” in that the Neanderthal wild‐type nucleotide matched the human but not the chimpanzee wild‐type. For the remaining PCM, all three wild‐type states were found to differ. Whereas a derived PCM would require compensation only in the chimpanzee, ancestral PCMs are useful as a means to identify sites of possible adaptive differences between modern humans on the one hand, and Neanderthals and chimpanzees on the other. Ancestral PCMs considered to be disease‐causing in humans were identified in two Neanderthal genes (DUOX2, MAMLD1). Because the underlying mutations are known to give rise to recessive conditions in human, it is possible that they may also have been of pathological significance in Neanderthals. Hum Mutat 31:1–8, 2010. © 2010 Wiley‐Liss, Inc.
Combined individual scrummaging kinetics and muscular power predict competitive team scrum success

Abstract Scrummaging is a major component of Rugby Union gameplay. Successful scrummaging is dependent on the coordination of the forward players and the strength of the eight individuals. The study aim was to determine whether individual scrummaging kinetics and other candidate factors associated with scrummaging performance discriminate team scrum performances. Sixteen club-level forwards (stature: 1.80 ± 0.1 m; mass: 99.0 ± 18.2 kg) were initially divided into two scrummaging packs. A total of 10 various scrum permutations were tested, where players were randomly swapped between the two packs. Winning scrums were determined by two observers on opposite sides of the scrum. Fatigue (100 mm visual analogue scale (VAS)) and scrummaging effort (6–20 rating of perceived exertion (RPE)) were assessed following each scrum contest. Individual scrummaging kinetics were acquired through an instrumented scrum ergometer and muscular power indicated through vertical jump heights. Student’s t-tests were used to differentiate between winning and losing scrum packs. VAS and RPE were assessed using repeated measures ANOVAs. Winning scrum packs had significantly larger combined force magnitudes (p < .002), regardless of the player contribution calculations. Additionally, winning packs had less individual movement (p = .033) and higher combined vertical jump heights (p < .001) but were not significantly heavier (p = .759) than losing scrum packs. While perceived VAS and RPE values progressively increased (p < .001), no differences in the individual scrum magnitudes were observed between the 1st and 10th scrum (p = .418). The results indicated that the combination of individual forces, variation in movement and factors related to scrummaging performance, such as vertical jump height, were associated with team scrummaging success.
Xp11 Translocation Renal Cell Carcinoma (RCC): Extended Immunohistochemical Profile Emphasizing Novel RCC Markers

Xp11 translocation renal cell carcinoma (RCC) harbor various TFE3 gene fusions, and are known to underexpress epithelial immunohistochemical (IHC) markers such as cytokeratin and EMA relative to usual adult type RCC; however, their profile in reference to other IHC markers that are differentially expressed in other subtypes of RCC has not been systematically assessed. Few therapeutic targets have been identified in these aggressive cancers. We created 2 tissue microarrays (TMA) containing five 1.4-mm cores from each of 21 Xp11 translocation RCC (all confirmed by TFE3 IHC, 6 further confirmed by genetics), 7 clear cell RCC (CCRCC), and 6 papillary RCC (PRCC). These TMA were labeled for a panel of IHC markers. In contrast to earlier published data, Xp11 translocation RCC frequently expressed renal transcription factors PAX8 (16/21 cases) and PAX2 (14/21 cases), whereas only 1 of 21 cases focally expressed MiTF and only 5 of 21 overexpressed p21. Although experimental data suggest otherwise, Xp11 translocation RCC did not express WT-1 (0/21 cases). Although 24% of Xp11 translocation RCC expressed HIF-1α (like CCRCC), unlike CCRCC CA IX expression was characteristically only focal (mean 6% cell labeling) in Xp11 translocation RCC. Other markers preferentially expressed in CCRCC or PRCC, such as HIG-2, claudin 7, and EpCAM, yielded inconsistent results in Xp11 translocation RCC. Xp11 translocation RCC infrequently expressed Ksp-cadherin (3/21 cases) and c-kit (0/21 cases), markers frequently expressed in chromophobe RCC. Using an H-score that is the product of intensity and percentage labeling, Xp11 translocation RCC expressed higher levels of phosphorylated S6, a measure of mTOR pathway activation (mean H score=88), than did CCRCC (mean H score=54) or PRCC (mean H score=44). In conclusion, in contrast to prior reports, Xp11 translocation RCC usually express PAX2 and PAX8 but do not usually express MiTF. Although they may express HIF-1α, they only focally express the downstream target CA IX. They inconsistently express markers associated with other RCC subtypes, further highlighting the lack of specificity of the latter markers. TFE3 and Cathepsin K remain the most sensitive and specific markers of these neoplasms. Elevated expression of phosphorylated S6 in Xp11 translocation RCC suggests the mTOR pathway as an attractive potential therapeutic target for these neoplasms.
Tumor Thickness at the Tumor-normal Interface: A Novel Pathologic Indicator of Chemotherapy Response in Hepatic Colorectal Metastases

BackgroundProgress in the treatment of hepatic colorectal metastases (HCRM) demands pathologic indicators of therapy response. We observed that a majority of residual tumor cells are seen at the tumor-normal interface (TNI) in resected HCRM specimens and hypothesized that tumor thickness at the TNI correlates with radiologic and pathologic response and recurrence-free survival (RFS). DesignThis study included 103 patients with HCRM resected after preoperative chemotherapy with or without bevacizumab. Imaging response was assessed by response evaluation criteria in solid tumors (RECIST) and recently described CT morphology criteria by Chun et al. The pathologic response was categorized as complete (no tumor cells), major (<50% residual tumor cells), or minor (≥50% residual tumor cells). The maximum thickness of uninterrupted layers of tumor cells was measured perpendicular to the TNI by 2 pathologists independently, followed by consensus review for discrepant cases. For specimens containing >1 tumor, the average tumor thickness at the TNI was used. ResultsSixty-five patients received oxaliplatin-based chemotherapy, 38 received irinotecan-based chemotherapy, and 75 received concurrent bevacizumab. A complete pathologic response was seen in 9 patients, a major response in 44, and a minor response in 50. Median tumor thickness at the TNI was 2.8 mm (interquartile range, 0.5 to 6 mm). Tumor thickness correlated better with radiologic response as determined by Chun et al (P<0.0001) than by RECIST criteria (Spearman r=0.35, P<0.001). Tumor thickness correlated with pathologic response (Spearman r=0.80, P<0.0001). Greater thickness predicted shorter recurrence-free survival, and this correlation remained in multivariate analysis (P=0.015). Tumor thickness was smaller in patients treated with bevacizumab than in patients not given bevacizumab (P=0.03). ConclusionsTumor thickness measured at the TNI is potentially a new prognostic factor for therapy response and survival outcome in patients with resected HCRM.
Medication reconciliation as a tool for reducing polypharmacy at hospital discharge in Internal Medicine Wards

Medication reconciliation is a fundamental process of high-quality and safe medical care. An accurate current medication list is essential in all patient care settings. The process of medication reconciliation aims to promote patient safety by providing a structured process for physicians and other healthcare providers to acquire and transfer accurate detailed information about current prescribed medications, non-prescription and over-the-counter drugs. Nevertheless, medication reconciliation is not yet sufficiently spread in the clinical practice. The barriers to the construction of an accurate medication list and to the development of a reliable and enduring method of communication are mostly cultural gaps, lack of time and staff.
New insights into the pathogenesis of beckwith–wiedemann and silver–russell syndromes: Contribution of small copy number variations to 11p15 imprinting defects

The imprinted 11p15 region is organized in two domains, each of them under the control of its own imprinting control region (ICR1 for the IGF2/H19 domain and ICR2 for the KCNQ1OT1/CDKN1C domain). Disruption of 11p15 imprinting results in two fetal growth disorders with opposite phenotypes: the Beckwith–Wiedemann (BWS) and the Silver–Russell (SRS) syndromes. Various 11p15 genetic and epigenetic defects have been demonstrated in BWS and SRS. Among them, isolated DNA methylation defects account for approximately 60% of patients. To investigate whether cryptic copy number variations (CNVs) involving only part of one of the two imprinted domains account for 11p15 isolated DNA methylation defects, we designed a single nucleotide polymorphism array covering the whole 11p15 imprinted region and genotyped 185 SRS or BWS cases with loss or gain of DNA methylation at either ICR1 or ICR2. We describe herein novel small gain and loss CNVs in six BWS or SRS patients, including maternally inherited cis‐duplications involving only part of one of the two imprinted domains. We also show that ICR2 deletions do not account for BWS with ICR2 loss of methylation and that uniparental isodisomy involving only one of the two imprinted domains is not a mechanism for SRS or BWS. Hum Mutat 32:1171–1182, 2011. ©2011 Wiley‐Liss, Inc.
Decoding epithelial signals: critical role for the epidermal growth factor receptor in controlling intestinal transport function

The intestinal epithelium engages in bidirectional transport of fluid and electrolytes to subserve the physiological processes of nutrient digestion and absorption, as well as the elimination of wastes, without excessive losses of bodily fluids that would lead to dehydration. The overall processes of intestinal ion transport, which in turn drive the secretion or absorption of water, are accordingly carefully regulated. We and others have identified the epidermal growth factor receptor (EGFr) as a critical regulator of mammalian intestinal ion transport. In this article, we focus on our studies that have uncovered the intricate signalling mechanisms downstream of EGFr that regulate both chloride secretion and sodium absorption by colonocytes. Emphasis will be placed on the EGFr‐associated regulatory pathways that dictate the precise outcome to receptor activation in response to signals that may seem, on their face, to be quite similar if not identical. The concepts to be discussed underlie the ability of the intestinal epithelium to utilize a limited set of signalling effectors to produce a variety of outcomes suitable for varying physiological and pathophysiological demands. Our findings therefore are relevant not only to basic biological principles, but also may ultimately point to new therapeutic targets in intestinal diseases where ion transport is abnormal.
The development of a tournament preparation framework for competitive golf: A Delphi study

Abstract Tournament preparation in golf is used by players to increase course knowledge, develop strategy, optimise playing conditions and facilitate self-regulation. It is not known whether specific behaviours in tournament preparation should be given priority in education and practice at different stages of competition. This study aimed to achieve consensus on the importance of specific tournament preparation behaviours or “items” to players of five competitive levels. A two-round Delphi study was used, including an expert panel of 36 coaches, high-performance staff, players and academics. Participants were asked to score the relative importance of 48 items to players using a 5-point Likert-type scale. For an item to achieve consensus, 67% agreement was required in two adjacent score categories. Consensus was reached for 46 items and these were used to develop a ranked framework for each competitive level. The developed framework provides consensus-based guidelines of the behaviours that are perceived as important in tournament preparation. This framework could be used by national sport organisations to guide the development of more comprehensive learning environments for players and coaches. It could also direct future studies examining the critical behaviours for golfers across different competitive levels.
AMP‐activated protein kinase – a sensor of glycogen as well as AMP and ATP?

The classical role of the AMP‐activated protein kinase (AMPK) is to act as a sensor of the immediate availability of cellular energy, by monitoring the concentrations of AMP and ATP. However, the β subunits of AMPK contain a glycogen‐binding domain, and in this review we develop the hypothesis that this is a regulatory domain that allows AMPK to act as a sensor of the status of cellular reserves of energy in the form of glycogen. We argue that the pool of AMPK that is bound to the glycogen particle is in an active state when glycogen particles are fully synthesized, causing phosphorylation of glycogen synthase at site 2 and providing a feedback inhibition of further extension of the outer chains of glycogen. However, when glycogen becomes depleted, the glycogen‐bound pool of AMPK becomes inhibited due to binding to α1→6‐linked branch points exposed by the action of phosphorylase and/or debranching enzyme. This allows dephosphorylation of site 2 on glycogen synthase by the glycogen‐bound form of protein phosphatase‐1, promoting rapid resynthesis of glycogen and replenishment of glycogen stores. This is an extension of the classical role of AMPK as a ‘guardian of cellular energy’, in which it ensures that cellular energy reserves are adequate for medium‐term requirements. The literature concerning AMPK, glycogen structure and glycogen‐binding proteins that led us to this concept is reviewed.