Miracle-dz/UniFAR-FTUs huggingface dataset:
What is the value of growth hormone therapy in Prader Willi syndrome?

Prader Willi syndrome (PWS) is a genetic condition caused by loss of the paternal copy of a region of imprinted genes on chromosome 15. There is severe muscular hypotonia in the neonatal period, with the onset of hyperphagia and food-seeking behaviour in childhood. All individuals with PWS have developmental delay. Without careful control of food intake and the food environment, individuals with PWS become morbidly obese and are likely to die as young adults from the complications of obesity. The aims of growth hormone (GH) treatment in PWS are distinct from the use of GH in other conditions—although GH does increase final height in PWS, the main benefits of treatment are improved body composition and better exercise capacity, which can help with the aim of preventing obesity. GH trials in PWS have demonstrated improved muscle bulk, reduced fat mass and increased levels of physical activity. GH has also been demonstrated to improve attainment of developmental and cognitive milestones in children with PWS. GH treatment appears to change respiratory status in PWS, possibly because of growth of lymphoid tissue at the start of treatment. Respiratory assessment is recommended prior to, and just after starting GH treatment. Ideal age for starting GH is not clear, although there has been a trend towards starting at younger ages. It may be that GH treatment in childhood confers benefits into adult life. There are less data to support continuing GH treatment into adult life.
Named entity evolution analysis on wikipedia

Accessing Web archives raises a number of issues caused by their temporal characteristics. Additional knowledge is needed to find and understand older texts. Especially entities mentioned in texts are subject to change. Most severe in terms of information retrieval are name changes. In order to find entities that have changed their name over time, search engines need to be aware of this evolution. We tackle this problem by analyzing Wikipedia in terms of entity evolutions mentioned in articles. We present statistical data on excerpts covering name changes, which will be used to discover similar text passages and extract evolution knowledge in future work.
Testing Long-Horizon Predictive Ability with High Persistence, and the Meese-Rogoff Puzzle

A well-known puzzle in international finance is that a random walk predicts exchange rates better than economic models. I offer a potential explanation. When exchange rates and fundamentals are highly persistent, long-horizon forecasts of economic models are biased by the estimation error. When this bias is big, a random walk will forecast better, even if the economic model is true. I propose a test for equal predictability in the presence of high persistence. It shows that the poor forecasting ability of economic models does not imply that the models are not good descriptions of the data.
A revised technique for locating and embedding genetically marked muscle fibers in mice

INTRODUCTION The use of genetic markers to follow cells during development, or as reporter genes when studying expression of genetic control elements has become increasingly common. The most frequently used gene for these kinds of studies, is the bacterial lac 2 gene coding for the enzyme beta-galactosidase. The popularity of this gene is in part due to the ease with which its products can be stained to produce a stable bluelgreen stain in light microscope sections. In many studies using lac Z, it is often necessary to examine marked cells by transmission electron microscopy (TEM) in order to identify cell type and location. This is made easier by the electron dense nature of the stain under TEM. During studies using replication deficient retroviruses to incorporate the lac 2 gene into the myogenic cells of developing mice (Evans et al 1993), several problems were encountered. Firstly the enzyme beta-galactosidase (beta-gal) is sensitive to the initial concentration of fixative. Only 0.5% glutaraldehyde could be used to preserve the tissue prior to staining, if the enzyme activity was to remain. Secondly, whole neonatal mouse limbs had to be searched for the presence of marked cells (fibers). The large volume of tissue and the small number of cells to be located made serial sectioning of resin embedded material impractical. Finally while marked cells could be detected in frozen or vibratome sections of tissue, it has been reported that the stain is slightly soluble in propylene oxide (Sanes et al 1986) and indeed with conventional processing of our material into Agar 100 embedding medium (Agar Scientific Ltd) there was a complete loss of staining characteristics prior to examination under the TEM. The solutions to these problems are given below.
Dictionary of medical eponyms

Downloading the book in this website lists can give you more advantages. It will show you the best book collections and completed collections. So many books can be found in this website. So, this is not only this dictionary of medical eponyms. However, this book is referred to read because it is an inspiring book to give you more chance to get experiences and also thoughts. This is simple, read the soft file of the book and you get it.
Block level buffer management for video streaming services in IPTV environments

With the widespread adoption of broadband Internet services and recent advances in video technologies, Internet Protocol Television (IPTV) is becoming increasingly popular. IPTV provides a variety of interesting services such as VOD (Video on Demand), PVR (Personal Video Recorder), game, shopping as well as live TV broadcast. In order to support various interactive services of IPTV, more elaborate software should be equipped for video streaming services. Specifically, popularity-based interval caching is effective in improving the performance of video streaming services in IPTV environments. This paper shows that block level refinement of existing schemes can further improve the service quality and performance of video streaming in IPTV. Simulations with real world VOD traces show that the proposed scheme improves the cache hit rate and the response time significantly.
Auxin-induced Stress Potentiates trans-activation by a Conserved Plant Basic/Leucine-zipper Factor*

The promoter element activation sequence-1 (as-1) confers tissue-specific and signal-responsive transcription in plants. Hormone and chemical stress cues are thought to activate as-1-dependent transcription through specific basic/leucine-zipper proteins, termed TGA factors, that bind this element. We report here that a highly conserved TGA factor of tobacco, TGA1a, can selectively activate transcription in response to micromolar concentrations of auxin hormones or their analogs. This induction is chemically specific, as a range of other compounds tested at similar concentrations had little or no effect. Auxin was found to augment the trans-activation potential of TGA1a through carboxyl-terminal residues. The amino-terminal domain of TGA1a, by gain-of-function assays, was found to both constitutively activate transcription and maximize the response to auxin. Further evidence indicates that the trans-activation potential of this domain in TGA1a is repressed, under basal conditions, by carboxyl-terminal residues. Because TGA1a and endogenous TGA factors are stimulated by auxin only at concentrations that inhibited cell growth, this response is likely to involve chemical stress.
Cognitive Functions in Euthymic Bipolar Patients and Lithium

Based on Kraepelin’s works we had for many years been distinguishing between manicdepressive illness (bipolar disorder) and dementia praecox (schizophrenia) based on the assumption that bipolar patients tended to experience full remission, whereas the schizo‐ phrenic did not. Since the late 1990s, the evidence has been accumulated that the recovery in bipolar disorder is not complete [1]. Persistent psychosocial difficulties and cognitive deficits are common in patients with the bipolar disorder even in euthymic or asymptomatic states [2, 3]. After two decades of scientific work the nature of the cognitive impairments is still the focus of research and debate. The extent and pattern of cognitive impairment in euthymic patients remain uncertain [4]. A meta-analysis of the studies revealed widespread cognitive deficits in patients with schizophrenia and affective disorders in cognitive functioning, speed of infor‐ mation processing, encoding and retrieval, rule discovery, as well as response generation and response inhibition [5]. There is a growing need for clarification regarding the extent and clinical relevance of cognitive impairment in bipolar patients [6].
A retrospective review of 1349 cases of sebaceous carcinoma

Sebaceous carcinoma is a rare and aggressive cutaneous carcinoma. It is believed that this malignancy predominates in the periocular region and occurs more frequently in Asian populations and in women. The objective of the current study was to analyze demographic characteristics and outcomes for patients with this malignancy from a large United States‐based population registry.
Increasing endogenous 2‐arachidonoylglycerol levels counteracts colitis and related systemic inflammation

Inflammatory bowel diseases (IBDs) are chronic inflammatory conditions for which new therapeutic approaches are needed. Genetic and pharmacological data point to a protective role of CB1 and CB2 cannabinoid receptor activation in IBD experimental models. Therefore, increasing the endogenous levels of 2‐arachidonoylglycerol, the main full agonist of these receptors, should have beneficial effects on colitis. 2‐Arachidonoylglycerol levels were raised in the trinitrobenzene sulfonic acid (TNBS)‐induced colitis mouse model by inhibiting monoacylglycerol lipase (MAGL), the primary enzyme responsible for hydrolysis of 2‐arachidonoylglycerol, using the selective inhibitor JZL184. MAGL inhibition in diseased mice increased 2‐arachidonoylglycerol levels, leading to a reduction of macroscopic and histological colon alterations, as well as of colonic expression of proinflammatory cytokines. The restored integrity of the intestinal barrier function after MAGL inhibition resulted in reduced endotoxemia as well as reduced peripheral and brain inflammation. Coadministration of either CB1 (SR141716A) or CB2 (AM630) selective antagonists with JZL184 completely abolished the protective effect of MAGL inhibition on TNBS‐induced colon alterations, thus demonstrating the involvement of both cannabinoid receptors. In conclusion, increasing 2‐arachidonoylglycerol levels resulted in a dramatic reduction of colitis and of the related systemic and central inflammation. This could offer a novel pharmacological approach for the treatment of IBD based on the new protective role of 2‐arachidonoylglycerol described here. —Alhouayek, M. , Lambert, D. M. , Delzenne, N. M. , Cani, P. D. , Muccioli, G. G. Increasing endogenous 2‐arachidonoylglycerol levels counteracts colitis and related systemic inflammation. FASEB J. 25, 2711‐2721 (2011). www.fasebj. org
Production of SIV vectors for gene delivery.

Service Email Alerting click here. Receive free email alerts when new articles cite this article Categories Subject Cold Spring Harbor Protocols. Browse articles on similar topics from (45 articles) Virus (65 articles) Viral Methods (156 articles) Transgenic Technology, general (983 articles) Molecular Biology, general (248 articles) DNA Delivery/Gene Transfer, general (211 articles) DNA Delivery/Gene Transfer
Dynamic Analysis of Approximate Program Quality

Energy efficiency is a key concern in the design of modern computer systems. One promising approach to energyefficient computation, approximate computing, trades off output precision for energy efficiency. However, this tradeoff can have unexpected effects on computation quality. This paper presents dynamic-analysis tools to debug and monitor the quality of approximate computations. We propose both offline tools that instrument code to determine the key sources of error and online tools that monitor the quality of deployed applications. We present two offline and three online tools. The first offline tool identifies correlations between output quality and the total number of executions of, and errors in, individual approximate operations. The second tracks the number of approximate operations that flow into a particular value. Our online tools comprise three low-cost approaches to dynamic quality monitoring. They are designed to monitor quality in deployed applications without spending more energy than is saved by approximation. We present prototype implementations of these tools and describe their usage with seven applications. Our monitors succeed in controlling output quality while still maintaining significant energy efficiency gains, and our offline tools succeed in providing new insights into the effects of approximation on output quality.
Chromatin structure and expression of the AMPA receptor subunit Glur2 in human glioma cells: Major regulatory role of REST and Sp1

It has been suggested that reduced glutamate receptor expression protects glioma cells from glutamate toxicity. GluR2 is the critical subunit of the GluR2 subtype of AMPA glutamate receptors as this subunit determines the Ca2+ permeability of the receptor. The gene encoding the GluR2 subtype of AMPA receptors has been described as a target gene for the transcription repressor REST. However, we recently showed that the GluR2 gene is not regulated by REST in several neuronal and neuroendocrine cell lines, due to a repressive chromatin environment. Here, we show that the GluR2 gene has an open chromatin configuration in human glioma cells. Overexpression of REST reduced GluR2 mRNA levels while shRNA‐mediated depletion of REST or expression of a REST mutant, that contained a transcriptional activation domain, enhanced GluR2 expression. Incubation with trichostatin A (TSA), a histone deacetylase inhibitor, induced acetylation of histone 4 of the GluR2 locus in glioma cells, leading to an upregulation of GluR2 expression. Together, these data suggest that REST is responsible for the reduced expression of GluR2 in glioma cells. The transcription factor Sp1 additionally binds under physiological conditions to the GluR2 gene in human glioma cells and expression of a dominant‐negative mutant of Sp1 reduced expression of GluR2. Thus, the regulation via Sp1 represents a further control point for GluR2 expression in glioma cells. Together, we show that the GluR2 gene is embedded into an open chromatin configuration in glioma cells and expression of GluR2 is controlled by REST and Sp1. J. Cell. Biochem. 113: 528–543, 2012. © 2011 Wiley Periodicals, Inc.
Constrictive Infectious Pericarditis Caused by Propionibacterium acnes

action). Furthermore, South Asians in our series presented a significantly lower prevalence of hypertension, smoking, and cocaine abuse than the white Spanish population, with similar values of low-density lipoprotein cholesterol, but a lower prevalence of previous treatments with statins. Studies performed in Britain have reported contradictory results regarding the presence of these risk factors in South Asian patients, and this has been related to the heterogeneity of the subgroups analyzed, which makes extrapolation to our setting difficult. For its part, the risk profile observed among the young Spaniards in our series is in keeping with previous findings, in which early infarction has been associated with high rates of smoking and hypercholesterolemia, and glucose metabolism disorders have a smaller role. Our study highlights the specific features of cardiovascular risk in South Asians in our setting and the differences with respect to the young Spanish population. There were no significant differences between the 2 groups in the clinical presentation of AMI (with or without ST elevation). Nonetheless, among patients with ST elevation AMI, there was a significantly higher percentage of anterior AMI in South Asian patients. In addition, coronary angiography showed more severe disease in these patients, and a larger number were considered to have nonrevascularizable lesions. AMI without coronary lesions was more common in the white Spanish population. These observations indicate that coronary disease in South Asians is related more to accelerated atherosclerosis than to predominantly thrombotic or vasospastic processes. Despite the differences described, the 2 groups presented a similar in-hospital clinical course with low complication rates and mortality, which was likely due to the young age of the patients, low prevalence of comorbidities, absence of significant differences in the treatment received, and the improved in-hospital prognosis of AMI observed in our setting. This series is the first in Spain to address ischemic heart disease in South Asian immigrant patients. Knowledge of the differential characteristics of this ethnic group can facilitate the development of primary and secondary prevention strategies adapted to their risk profile.
Sensitivity of Fluorochrome Microscopy for Detection of Mycobacterium tuberculosis versus Nontuberculous Mycobacteria

ABSTRACT The results for 6,532 consecutive mycobacterial respiratory specimens collected from 1,040 patients from 1993 to 1995 in a Texas hospital were studied to determine the sensitivity of fluorescence microscopy for detection of Mycobacterium tuberculosisand nontuberculous mycobacteria (NTM). Smears were positive for acid-fast bacilli (AFB) in 63% (677 of 1,082) of specimens growingM. tuberculosis and 56% (638 of 1,148) of specimens growing the four most common species of NTM. Smear positivity by species was 58% (446 of 776) for M. avium complex, 51% (154 of 300) for rapidly growing mycobacteria (98% were M. abscessus), 78% (29 of 37) for M. kansasii, and 26% (9 of 35) for M. gordonae. Definite or probable disease by clinical criteria was present in 79% of patients withM. avium complex, 93% of patients with rapidly growing mycobacteria, 100% of patients with M. kansasii, and 0% of patients with M. gordonae. Patients with M. avium complex had a low incidence of AIDS (7%), and approximately 50% of non-AIDS patients had upper-lobe cavitary disease and 50% had nodular bronchiectasis. Only 23 of 6,532 (0.35%) of AFB smears were positive with a negative culture excluding patients on therapy for established mycobacterial disease. These studies suggest that NTM are as likely as M. tuberculosis to be detected by fluorescent microscopy in specimens from patients from areas endemic for NTM lung disease and at low risk for AIDS.
Alternative diagnoses in patients in whom the GP considered the diagnosis of pulmonary embolism

Introduction. Pulmonary embolism (PE) often presents with nonspecific symptoms and may be an easily missed diagnosis. When the differential diagnosis includes PE, an empirical list of frequently occurring alternative diagnoses could support the GP in diagnostic decision making. Objectives. To identify common alternative diagnoses in patients in whom the GP suspected PE but in whom PE could be ruled out. To investigate how the Wells clinical decision rule for PE combined with a point-of-care d-dimer test is associated with these alternative diagnoses. Methods. Secondary analysis of the Amsterdam Maastricht Utrecht Study on thrombo-Embolism (Amuse-2) study, which validated the Wells PE rule combined with point-of-care d-dimer testing in primary care. All 598 patients had been referred to and diagnosed in secondary care. All diagnostic information was retrieved from the GPs’ medical records. Results. In 516 patients without PE, the most frequent alternative diagnoses were nonspecific thoracic pain/dyspnoea (42.6%), pneumonia (13.0%), myalgia (11.8%), asthma/chronic obstructive pulmonary disease (4.8%), panic disorder/hyperventilation (4.1%) and respiratory tract infection (2.3%). Pneumonia occurred almost as frequent as PE. Patients without PE with either a positive Wells rule (>4) or a positive d-dimer test, were more often (odds ratio = 2.1) diagnosed with a clinically relevant disease than patients with a negative Wells rule and negative d-dimer test. Conclusion. In primary care patients suspected of PE, the most common clinically relevant diagnosis other than PE was pneumonia. A positive Wells rule or a positive d-dimer test are not only positively associated with PE, but also with a high probability of other clinically relevant disease.
Disease-Phenotype Deconvolution in Genetic Eye Diseases Using Online Mendelian Inheritance in Man.

PURPOSE Capturing organ-specific phenomes in genetic diseases is an uphill task for the eye as it comprises tissue types derived from all three germinal layers. We attempted to deconstruct genetic eye diseases (GEDs) into primary phenotypic features, to understand the complex genome-phenome relationship in GEDs. METHODS Using phenotype, molecular basis, and gene description features in OMIM as a primary resource, we analyzed gene-phenotype information. All ocular and systemic phenotypes were categorized and ranked based on occurrence. Clustering was performed on shared ocular features to identify genetic interactions and the largest cluster of each phenotype was used for functional analyses. RESULTS We collected 527 GEDs associated with 440 unique protein-coding genes. We indexed 787 ocular and 3094 systemic features, for an average of 2.17 ocular and 8.14 systemic features, respectively, per disease unit. The most common ocular features included nystagmus, hypertelorism, and myopia, while neurological and skeletal are the most common systemic groups associated with GEDs. Functional analyses revealed pathways relevant to GEDs (e.g., extracellular matrix organization in ONH3 [glaucoma]) and protein metabolism in EOM35 (nystagmus) phenotype clusters. CONCLUSIONS Our work imparts a structure in dissecting GEDs into unique phenotypes to study the relationship between genes and diseases involving the eye.
Peptide‐related alterations of membrane‐associated water: deuterium solid‐state NMR investigations of phosphatidylcholine membranes at different hydration levels

Deuterated water associated with oriented POPC bilayers was investigated before and after the addition of 2 mol% peptide. Membranes in the presences of antimicrobial‐(LAH4), pore‐forming‐ (the segments M2 of influenza A and S4 of the domain I of rat brain sodium channels) or lysine‐containing model peptides (LAK1 and LAK3) were investigated by 2H and proton‐decoupled 31P solid‐state NMR. The NMR spectra were recorded as a function of hydration in the range between 15 and 93% relative humidity and of sample composition. In the presence of peptides an increased association of water is observed. A quantitative analysis suggests that the peptide‐induced changes in the lipid bilayer packing have a significant effect on membrane–water association. The quadrupolar splittings of 2H2O at a given degree of hydration indicate that the changes of the water deuterium order parameter are specific for the peptide sequence and the lipid composition. Copyright © 2004 John Wiley & Sons, Ltd.