Miracle-dz/UniFAR-FTUs huggingface dataset:
Epinephrine Auto-Injector Use in Adolescents at Risk of Anaphylaxis: A Qualitative Study in Scotland, UK

M Gallagher, A Worth, S Cunningham-Burley, A Sheikh. Clin Exp Allergy. 2011;41(6):869–877 Adolescents with allergies are at high risk of fatal anaphylactic reactions. The current study explores barriers to epinephrine auto-injector use among at-risk adolescents in Scotland and investigates strategies to improve anaphylaxis management. Twenty-six adolescents aged 13 to 19 years and 28 of their parents participated in this qualitative study. Participants were recruited through school nurses, primary care physicians, allergy specialists, and a patient support group and via a press release. Forty-five adolescents …
Physiology of the kidney and body fluids; an introductory text

This excellent book is one of a projected, and partially completed, series of monographs in physiology being brought out by Year Book Medical Publishers. These are designed to be a "textbook" of physiology in the aggregate, but at the same time to serve individually as complete monographs in the particular specialty areas of the field. They are further meant to serve the needs of both the medical student in physiology and the practitioner requiring a relatively short, readable, upto-date treatment of the subject. These aims are admirably met by this book of Dr. Pitts. Others in the series already out are The Lung , by Comroe et al, Physiology of the Digestive Tract by Davenport, and Metabolic and Endocrine Physiology , by Tepperman. Others are about to appear in the fields of the cardiovascular and nervous systems. The field of renal physiology has not had so current, readable, and understandable a general
The t(1;9)(p34;q34) and t(8;12)(p11;q15) fuse pre‐mRNA processing proteins SFPQ (PSF) and CPSF6 to ABL and FGFR1

We have investigated two patients with acquired chromosomal rearrangements, a male presenting with a t(1;9)(p34;q34) and B cell progenitor acute lymphoid leukemia and a female presenting with a t(8;12)(p11;q15) and the 8p11 myeloproliferative syndrome. We determined that the t(1;9) fused ABL to SFPQ (also known as PSF), a gene mapping to 1p34 that encodes a polypyrimidine tract‐binding protein‐associated splicing factor. The t(8;12) fused CPSF6, a cleavage and polyadenylation specificity factor, to FGFR1. The fusions were confirmed by amplification of the genomic breakpoints and RT‐PCR. The predicted oncogenic products of these fusions, SFPQ‐ABL and CPSF6‐FGFR1, are in‐frame and encode the N‐terminal domain of the partner protein and the entire tyrosine kinase domain and C‐terminal sequences of ABL and FGFR1. SFPQ interacts with two FGFR1 fusion partners, ZNF198 and CPSF6, that are functionally related to the recurrent PDGFRα partner FIP1L1. Our findings thus identify a group of proteins that are important for pre‐mRNA processing as fusion partners for tyrosine kinases in hematological malignancies. © 2008 Wiley‐Liss, Inc.
Futtermittelhypersensitivitäts-Dermatitis beim Hund: Möglichkeiten der Diagnose

Les chiens qui souffrent d'une hypersensibilite alimentaires developpent en general des alterations cutanees prurigineuses chroniques et/ou des troubles gastro-intestinaux, symptomes qui ne sont pas differentiables de ceux d'une dermatite atopique. Ces manifestations sont volontiers mises sur le compte d'une allergie alimentaire dont la pathogenese est jusqu'a maintenant insuffisamment connue. Diverses etudes consacrees a l'incidence de l'hypersensibilite alimentaire chez le chien sont parvenues a des resultats contradictoires. La cle du diagnostic est l'alimentation selective suivie d'une provocation. Quelques laboratoires offrent des tests serologiques pour depister une hypersensibilite alimentaire mais aucun d'eux n'est jusqu'a ce jour suffisamment precis. Le but de cette etude etait de determiner l'incidence des dermatites liees a une hypersensibilite alimentaire chez le chien et d'evaluer un test serologique nouvellement developpe pour leur diagnostic. Sur les 55 chiens presentant des symptomes evoquant une hypersensibilite alimentaire ou une dermatite atopique, seuls 9% ont ete diagnostique comme souffrant d'une hypersensibilite alimentaire. La reproductibilite du test serologique s'est montree insuffisante.
New prognostic markers revealed by evaluation of genes correlated with clinical parameters in Wilms tumors

Current treatment protocols for Wilms tumor achieve 90% cure rates, but relapse risk and side effects from therapy remain challenging. Over the last decade, numerous markers have been proposed for classification and/or prediction of outcome. However, cohort sizes were quite variable and often small. We now provide a large‐scale reassessment by real‐time RT‐PCR of 40 markers in 102 Wilms tumors followed by validation of potentially relevant markers in an independent set of 74 tumors. In the first data set, individual comparison with clinical data combined with adjustment for multiple testing and multivariate analysis revealed potentially relevant alteration of CA9, DKK1, EGR1, HEY2, MYC, MYCN, TERT, TOP2A, TRIM22, and VEGF expression in association with CTNNB1 mutation status, histological risk, response to chemotherapy, metastasis, relapse, or mortality. To further validate these data, potentially relevant genes for specific outcomes were reanalyzed in a second, independent tumor set. Here, univariate analysis confirmed the association of HEY2 with high‐risk tumors and of TRIM22 with mortality. Even where significance levels could not be reached, the direction and extent of differential expression were generally reproducible. Multivariate analysis verified a weak correlation of TOP2A expression with metastasis and of TRIM22 with fatal outcome. Although we could corroborate only some of the previously reported associations of expression changes with clinical parameters, our results indicate that real‐time RT‐PCR analysis can facilitate further classification of Wilms tumor and prediction of outcome to adjust treatment accordingly. This article contains Supplementary Material available at http://www.interscience. wiley.com/jpages/1045‐2257/suppmat. © 2008 Wiley‐Liss, Inc.
Extracellular vesicles from parasitic helminths and their potential utility as vaccines

ABSTRACT Introduction: Helminths are multicellular parasites affecting nearly three billion people worldwide. To orchestrate a parasitic existence, helminths secrete different molecules, either in soluble form or contained within extracellular vesicles (EVs). EVs are secreted by most cell types and organisms, and have varied roles in intercellular communication, including immune modulation and pathogenesis. Areas covered: In this review, we describe the nucleic acid and proteomic composition of EVs from helminths, with a focus on the protein vaccine candidates present on the EV surface membrane, and discuss the potential utility of helminth EVs and their constituent proteins in the fight against helminth infections. Expert commentary: A significant number of proteins present in helminth-secreted EVs are known vaccine candidates. The characterization of helminth EV proteomes will shed light on host–pathogen interactions, facilitate the discovery of new diagnostic biomarkers, and provide a novel approach for the development of new control measures against helminth infections.
Front- or rear-weighted track start or grab start: Which is the best for female swimmers?

The aim of this study was to compare three competitive swimming starts (grab, rear-weighted track, and front-weighted track). The starts were compared in terms of time and instantaneous horizontal velocity, both at take-off from the block and at 5 m from the wall. Twenty US college female swimmers performed three trials of each of the three randomly ordered starts. Swimmers left the block significantly sooner using the front-weighted track start (0.80 s) than the other two starts (both 0.87 s; P < 0.001). In the rear-weighted track start, however, the athletes left the blocks with significantly higher horizontal velocity than in the grab or front-weighted track start (3.99 vs. 3.87 and 3.90 m/s, respectively; each P < 0.001). By 5 m, the front-weighted track start maintained its time advantage over the grab start (2.19 vs. 2.24 s; P = 0.008) but not the rear-weighted track start (2.19 vs. 2.21 s; P = 0.336). However, the rear-weighted track start had a significant advantage over the front-weighted track start in terms of instantaneous horizontal velocity at 5 m (2.25 vs. 2.18 m/s; P = 0.009). Therefore, the rear-weighted track start had a better combination of time and velocity than the front-weighted track start. There was also a trend for the rear-weighted track start to have higher velocity at 5 m than the grab start, although this did not reach statistical significance (2.25 vs. 2.20 m/s; P = 0.042). Overall, these results favour the rear-weighted track start for female swimmers even though most of the athletes had little or no prior experience with it. Additional research is needed to determine whether males would respond similarly to females in these three different swimming starts.
Musashi 2 in hematopoiesis

Purpose of reviewRecent work has shown that the Musashi 2 (Msi2) gene plays important roles in normal and malignant hematopoiesis. Here, we give an overview on the role of Msi2 in the regulation and function of primitive hematopoietic cells as well as in leukaemic progression. We also discuss the molecular pathways in which Msi2 acts in both normal and leukaemic blood cells. Recent findingsMsi2 gain and loss of function experiments have shown that it plays an important role in regulating the heamatopoietic stem cell pool. Msi2 has also been found to be overexpressed in human myeloid leukaemias correlating with poor prognosis, therefore Msi2 may be considered as a prognostic marker for acute myeloid leukaemia. SummaryFurther studies into the molecular pathways through which Msi2 modulates primitive progenitor function will provide insight into the regulation of normal haematopoiesis and a better understanding of the mechanisms governing the leukaemic transformation process. This will be crucial for the development of effective therapies.
CHARACTERISTICS OF HUMAN ECOLOGICAL, CHILD CARING PRACTICES AND NUTRITIONAL STATUS OF CHILDREN 0–60 MONTHS AND THEIR MOTHERS IN A LOWLAND BOLIVIAN COMMUNITY

A multifaceted, cluster-sample population survey was carried out among 600 children aged 0 to 60 months (mo) and their respective mothers or female caretakers in the province of Ichilo, Santa Cruz, in the lowlands of Bolivia. The purpose was to document attitudes, practices, and nutritional and health status on which to base cost-effective intervention strategies to reduce child morbidity and mortality. Rural poverty, perhaps less severe than in the Bolivian high altitudes, is found in Ichilo Province’s tropical lowlands. In children 0–60 mo, approximately one-fifth (22.5%) were severely stunted with rates increasing with age, 6.5% were severely undernourished, and 1.2% were severely wasted. Close to half (41.7%) of children (95% CI 37.7–45.6%) were anemic with rates lowest in the first semester of life (11.9%) and highest in the 2nd and 4th semesters (65.3%), tapering down to 22% by the 5th year. Forty percent of women were anemic. An infection prevalence of 62.1% was found in a subgroup of 131 children providing fecal samples and in 74.8% in the corresponding adults in the dyads. Fecal organisms found included protozoa (Entamoeba histolytica, Giardia lamblia) and helminths (Ascaris lumbricoides, Trichuris trichuria and hookworms). Breastfeeding was exclusive for 3 to 6 months, and 50% of children exclusively breastfed were completely weaned at 15 months. Almost 80% of the study group population experienced an episode of acute infectious illness every 2 weeks. Our findings indicate that cost-effective public-health interventions directed at anemia, growth faltering, recurrent infections, and intestinal parasites are warranted.
New development in von Willebrand disease

Purpose of reviewVon Willebrand disease (VWD) is an autosomally inherited bleeding disorder caused by a deficiency or abnormality of von Willebrand factor (VWF). VWF is a multimeric adhesive protein produced mainly by the endothelial cells. VWF is crucial in primary hemostasis because it promotes platelet adhesion to the subendothelium at the sites of vascular injury and in coagulation because VWF is the carrier of factor VIII. VWD is highly heterogeneous because the molecular mechanisms underlying the different clinical and laboratory phenotypes may be complex. VWD is classified into quantitative deficiencies of VWF (type 1 and type 3 VWD) and qualitative variants (type 2 VWD), because of a dysfunctional VWF. Whereas inheritance is autosomal dominant and bleeding tendency is heterogeneous in type 1 and 2, type 3 patients present moderate-to-severe bleeding diathesis and display a recessive pattern of inheritance. Recent findingsAlthough the responsible genetic background has been extensively clarified over the recent years, providing insights on the structure–function relationship of the protein, the cellular basis of the disorder is being investigated for a few mutations only recently. In several cases, increased clearance of the mutant VWF may be responsible for the disease. Standardized criteria for the definition of bleeding history and appropriate history collection are now available, but estimates of bleeding risk are largely lacking. SummaryVWD, the most frequent inherited bleeding disorder, has been the subject of extensive pathophysiological and clinical studies. The novel evidences provide accurate insights on the mechanisms of the disease and the bleeding risk associated with VWF deficiency or abnormality.
The effect of time-of-day on static and dynamic balance in recreational athletes

Abstract The purpose of this study was to investigate the effect of time-of-day (morning vs. afternoon) on static and dynamic balance in recreational athletes. A total of 34 recreational athletes completed the single-leg stance test with or without eyes open, lower quarter Y-balance test, upper quarter Y-balance test, and single-leg landing balance test in a random order in the morning (7:00–10:00 am) and afternoon (3:00–6:00 pm) for two consecutive days. Compared with the morning, participants demonstrated decreased centre of pressure (COP) sway areas (p = 0.002; Cohen’s d (d) = 0.28) and sway speeds (p = 0.002; d = 0.17) during the eyes-open single-leg stance test, increased stance time (p = 0.031; d = 0.16) and decreased COP sway areas (p = 0.029; d = 0.22) during the eyes-closed single-leg stance test, and increased reaching distances (p = 0.024; d = 0.10) during the upper quarter Y-balance test in the afternoon. The between-day effect (day 1 vs. day 2) was observed for several parameters. Time-of-day had a minimal effect on dynamic balance and a noticeable effect on static balance. Time-of-day may be considered as a factor in designing balance training programmes and intervention studies for recreational athletes.
Hypobetalipoproteinemia and abetalipoproteinemia

Purpose of review Several mutations in the apoB, proprotein convertase subtilisin/kexin type 9 (PCSK9), and MTP genes result in low or absent levels of apoB and LDL-cholesterol in plasma, which cause familial hypobetalipoproteinemia and abetalipoproteinemia. Mutations in the ANGPTL3 gene cause familial combined hypolipidemia. Clinical manifestations range from none to severe, debilitating, and life-threatening disorders. This review summarizes recent genetic, metabolic, and clinical findings and presents an update on management strategies. Recent findings Cases of cirrhosis and hepatocellular carcinoma have now been identified in heterozygous familial hypobetalipoproteinemia probably because of decreased triglyceride transport capacity from the liver. ANGPTL3 mutations cause low levels of LDL-cholesterol and low HDL-cholesterol in compound heterozygotes and homozygous individuals, decrease reverse cholesterol transport, and lower glucose levels. The effect on atherosclerosis is unknown; however, severe fatty liver has been identified. Loss-of-function mutations in PCSK9 cause familial hypobetalipoproteinemia, which appears to lower risk for coronary artery disease and has no adverse sequelae. Phase III clinical trials are now underway examining the effect of PCSK9 inhibitors on cardiovascular events in combination with statin drugs. Summary Mutations causing low LDL-cholesterol and apoB have provided insight into lipid metabolism, disease associations, and the basis for drug development to lower LDL-cholesterol in disorders causing high levels of cholesterol. Early diagnosis and treatment are necessary to prevent adverse sequelae from familial hypobetalipoproteinemia and abetalipoproteinemia.
Basketball lay-up – foot loading characteristics and the number of trials necessary to obtain stable plantar pressure variables

Abstract This study aimed (1) to profile the plantar loading characteristics when performing the basketball lay-up in a realistic setting and (2) to determine the number of trials necessary to establish a stable mean for plantar loading variables during the lay-up. Thirteen university male basketball players [age: 23.0 (1.4) years, height: 1.75 (0.05) m, mass: 68.4 (8.6) kg] performed ten successful basketball lay-ups from a stationary position. Plantar loading variables were recorded using the Novel Pedar-X in-shoe system. Loading variables including peak force, peak pressure, and pressure–time integral were extracted from eight foot regions. Performance stability of plantar loading variables during the take-off and landing steps were assessed using the sequential averaging technique and intra-class correlation coefficient (ICC). High plantar loadings were experienced at the heel during the take-off steps, and both the heel and forefoot regions upon landing. The sequential estimation technique revealed a five–eight trial range to achieve a stable mean across all plantar loading variables, whereas ICC analysis was insensitive to inter-trial differences of repeated lay-up performances. Future studies and performance evaluation protocols on plantar loading during basketball lay-ups should include at least eight trials to ensure that the measurements obtained are sufficiently stable.
Relationship between foot strike pattern, running speed, and footwear condition in recreational distance runners

Abstract Compared to competitive runners, recreational runners appear to be more prone to injuries, which have been associated with foot strike patterns. Surprisingly, only few studies had examined the foot strike patterns outside laboratories. Therefore, this study compared the foot strike patterns in recreational runners at outdoor tracks with previously reported data. We also investigated the relationship between foot strike pattern, speed, and footwear in this cohort. Among 434 recreational runners analysed, 89.6% of them landed with rearfoot strike (RFS). Only 6.9 and 3.5% landed with midfoot and forefoot, respectively. A significant shift towards non-RFS was observed in our cohort, when compared with previously reported data. When speed increased by 1 m/s, the odds of having forefoot strike and midfoot strike relative to RFS increased by 2.3 times and 2.6 times, respectively. Runners were 9.2 times more likely to run with a forefoot strike in minimalists compared to regular running shoes, although 70% of runners in minimalists continued to use a RFS. These findings suggest that foot strike pattern may differ across running conditions and runners should consider these factors in order to mitigate potential injury.
Dalteparin-Induced Retroperitoneal Bleeding

TO THE EDITOR:Although uncommon, retroperitoneal hemorrhage (RH) caused by intravenous dalteparin or subcutaneous enoxaparin has been described in the literature. 1-3 We report a case of probable RH in a woman receiving subcutaneous dalteparin. Case Report. A 90-year-old nondisabled woman was admitted to our institution in May 1999 for unstable angina. Her medical history was unremarkable except for chronic degenerative mitral regurgitation and stable angina pectoris. She had taken aspirin 200 mg once daily for the past three years without any known adverse effect. Her drug regimen at the time of arrival at the hospital consisted of diltiazem 120 mg twice daily, isosorbide-5-mononitrate 20 mg every 12 hours, and aspirin. Physical examination was remarkable for a II/VI pansystolic murmur over the apex. The patient’s weight was 52 kg and her height was 1.58 m. Laboratory tests revealed hemoglobin 12.9 g/dL, normal platelet count, and blood chemical values within normal limits, including creatinine 0.9 mg/dL (normal 0.6–1.3) and urea 37 mg/dL (normal 15– 45). The estimated creatinine clearance was 34.10 mL/min; prothrombin time and international normalized ratio (INR) were within normal limits. Dalteparin sodium 6000 anti-Xa units subcutaneously twice daily, diltiazem, oral nitrate, and aspirin 200 mg once daily were prescribed, resulting in prompt control of symptoms. Five days after starting treatment, the patient developed hypotension and syncope. In addition, she experienced right-sided lumbar and thigh pain, which was severe and continuous. Concomitant physical examination revealed no signs of skin, nasal, oral, genital, or rectal bleeding. Her hemoglobin concentration decreased to 10.4 g/dL; the platelet count and coagulation results (prothrombin time, INR, activated partial thromboplastin time) remained normal. Abdominal ultrasonography disclosed a right retroperitoneal heterogeneous collection (Figure 1), which was considered highly indicative of the presence of a hematoma. Aortic aneurysm was not found. Ultrasound exploration of the abdomen was otherwise normal. Dalteparin and aspirin were discontinued, and the patient’s condition markedly improved. Six days later, aspirin therapy (65 mg once daily) was restarted, without subsequent bleeding complications. She was discharged on hospital day 18. Three months after dalteparin discontinuation, the patient was asymptomatic and repeat abdominal ultrasonography showed no abnormalities. Nine months after discharge, she remained well with no further bleeding. Discussion. In one previously reported case, 1 RH occurred in a patient with acute venous thromboembolic disease who was being treated with intravenous dalteparin (15 000 units anti-Xa/24 h; patient’s age not available). In two other cases, RH developed in elderly patients who were receiving enoxaparin: a 67-year-old woman who received subcutaneous enoxaparin 30 mg twice daily as postoperative prophylaxis against thromboembolic disease 2 and a 69-year-old man with limb deep-venous thrombosis receiving subcutaneous enoxaparin 80 mg every 12 hours. 3
A prognostic DNA signature for T1T2 node‐negative breast cancer patients

Predicting evolution of small node‐negative breast carcinoma is a real challenge in clinical practice. The aim of this study was to search whether qualitative or quantitative DNA changes may help to predict metastasis of small node‐negative breast carcinoma. Small invasive ductal carcinomas without axillary lymph node involvement (T1T2N0) from 168 patients with either good (111 patients with no event at 5 years after diagnosis) or poor (57 patients with early metastasis) outcome were analyzed with comparative genomic hybridization (CGH) array. A CGH classifier, identifying low‐ and high‐risk groups of metastatic recurrence, was established in a training set of 78 patients, then validated, and compared with clinicopathological parameters in a distinct set of 90 patients. The genomic status of regions located on 2p22.2, 3p23, and 8q21‐24 and the number of segmental alterations were defined in the training set to classify tumors into low‐ or high‐risk groups. In the validation set, in addition to estrogen receptors and grade, this CGH classifier provided significant prognostic information in multivariate analysis (odds ratio, 3.34; 95% confidence interval 1.01–11.02; P = 4.78 × 10−2, Wald test). This study shows that tumor DNA contains important prognostic information that may help to predict metastasis in T1T2N0 tumors of the breast. © 2010 Wiley‐Liss, Inc.