Miracle-dz/UniFAR-FTUs huggingface dataset:
This Work Is Licensed under a Creative Commons Attribution 4.0 International License Mutations in Gmppb Cause Congenital Myasthenic Syndrome and Bridge Myasthenic Disorders with Dystroglycanopathies

Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies. permits unrestricted reuse, distribution, and reproduction in any medium, provided the original work is properly cited. Congenital myasthenic syndromes are inherited disorders that arise from impaired signal transmission at the neuromuscular junction. Mutations in at least 20 genes are known to lead to the onset of these conditions. Four of these, ALG2, ALG14, DPAGT1 and GFPT1, are involved in glycosylation. Here we identify a fifth glycosylation gene, GMPPB, where mutations cause congenital myasthenic syndrome. First, we identified recessive mutations in seven cases from five kinships defined as congenital myasthenic syndrome using decrement of compound muscle action potentials on repetitive nerve stimulation on electro-myography. The mutations were present through the length of the GMPPB, and segregation, in silico analysis, exon trapping, cell transfection followed by western blots and immunostaining were used to determine pathogenicity. GMPPB congenital myasthenic syndrome cases show clinical features characteristic of congenital myasthenic syndrome subtypes that are due to defective glyco-sylation, with variable weakness of proximal limb muscle groups while facial and eye muscles are largely spared. However, patients with GMPPB congenital myasthenic syndrome had more prominent myopathic features that were detectable on muscle biopsies, electromyography, muscle magnetic resonance imaging, and through elevated serum creatine kinase levels. Mutations in GMPPB have recently been reported to lead to the onset of muscular dystrophy dystroglycanopathy. Analysis of four additional GMPPB-associated muscular dystrophy dystroglycanopathy cases by electromyography found that a defective neuromuscular junction component is not always present. Thus, we find mutations in GMPPB can lead to a wide spectrum of clinical features where deficit in neuromuscular transmission is the major component in a subset of cases. Clinical recognition of GMPPB-associated congenital myasthenic syndrome may be complicated by the presence of myopathic features, but correct diagnosis is important because affected individuals can respond to appropriate treatments. distribution, and reproduction in any medium, provided the original work is properly cited.
An Accurate Cross-Layer Approach for Online Architectural Vulnerability Estimation

Processor soft-error rates are projected to increase as feature sizes scale down, necessitating the adoption of reliability-enhancing techniques, but power and performance overhead remain a concern of such techniques. Dynamic cross-layer techniques are a promising way to improve the cost-effectiveness of resilient systems. As a foundation for making such a system, we propose a cross-layer approach for estimating the architectural vulnerability of a processor core online that works by combining information from software, compiler, and microarchitectural layers at runtime. The hardware layer combines the metadata from software and compiler layers with microarchitectural measurements to estimate architectural vulnerability online. We describe our design and evaluate it in detail on a set of SPEC CPU 2006 applications. We find that our online AVF estimate is highly accurate with respect to a postmortem AVF analysis, with only 0.46% average absolute error. Also, our design incurs negligible performance impact for SPEC2006 applications and about 1.2% for a Monte Carlo application, requires approximately 1.4% area overhead, and costs about 3.3% more power on average. We compare our technique against two prior online AVF estimation techniques, one using a linear regression to estimate AVF and another based on PVF-HVF; our evaluation finds that our approach, on average, is more accurate. Our case study of a Monte Carlo simulation shows that our AVF estimate can adapt to the inherent resiliency of the algorithm. Finally, we demonstrate the effectiveness of our approach using a dynamic protection scheme that limits vulnerability to soft errors while reducing the energy consumption by an average of 4.8%, and with a target normalized SER of 10%, compared to enabling a simple parity+ECC protection at all times.
Nematode parasites reduce carotenoid-based signalling in male red grouse

Carotenoids determine the yellow–red colours of many ornaments, which often function as signals of quality. Carotenoid-based signalling may reliably advertise health and should be particularly sensitive to parasite infections. Nematodes are among the commonest parasites of vertebrates, with well-documented negative effects on their hosts. However, to date, little is known about the effects that these parasites may have on carotenoid-based signalling. Tetraonid birds (grouse) exhibit supra-orbital combs, which are bright integumentary ornaments pigmented by carotenoids. We tested the effect of the nematode parasite Trichostrongylus tenuis on signalling in free-living male red grouse Lagopus lagopus scoticus. We show that experimentally reduced nematode infection increases plasma carotenoid concentration and comb redness, demonstrating for the first time that nematodes can influence carotenoid-based signals.
The Use of Integrative Therapies in Patients with Amyotrophic Lateral Sclerosis in Shanghai, China

Objective. To investigate the current use of integrative therapies (IT) in the treatment of patients with amyotrophic lateral sclerosis (ALS). Methods. A cross-sectional, multicenter clinical epidemiological survey was conducted in 12 hospitals in Shanghai. We investigated the type and frequency of IT use and determined whether the use of IT correlated with demographic, social, or disease-specific characteristics in our patient population. Results. A total of 231 (89.5%) of 258 patients with ALS were eligible for the study and 229 (99% of all) of 231 reported the use of at least one IT for the treatment of ALS. Vitamins and Chinese herb decoctions, Chinese herb compounds, massage therapy, and acupuncture were the 5 most commonly used therapies. There was a strong association between education level, income, and use of IT. A household income of more than 75,000 RMB ($49,995) correlated with multiple IT use, and married patients used IT more often than single individuals. The main reasons for using IT were to treat weakness and fatigue, muscle atrophy, the development of ALS, depression, insomnia, limb pain or numbness, and side effects associated with Riluzole. Conclusion. The use of IT is common in patients with ALS in Shanghai. Vitamins and TCM are the most used additional therapies and the widespread and largely unexamined use of IT for ALS requires more attention.
Comprehensive experimental fitness landscape and evolutionary network for small RNA

Significance Evolution by natural selection is driven by fitness differences, which define a “fitness landscape” in the space of all possible genetic sequences. Understanding the landscape is critical for understanding and predicting natural selection, yet very little is known about the structure of a real fitness landscape. Here we experimentally determine the complete fitness landscape of small RNA selected to interact with GTP, a building block for early life. We find that the landscape is composed of largely disconnected islands of active sequences. This scenario suggests that natural selection under these conditions would be constrained to local exploration of sequence space but that replaying the initial emergence of a functional RNA could lead to a different outcome. The origin of life is believed to have progressed through an RNA world, in which RNA acted as both genetic material and functional molecules. The structure of the evolutionary fitness landscape of RNA would determine natural selection for the first functional sequences. Fitness landscapes are the subject of much speculation, but their structure is essentially unknown. Here we describe a comprehensive map of a fitness landscape, exploring nearly all of sequence space, for short RNAs surviving selection in vitro. With the exception of a small evolutionary network, we find that fitness peaks are largely isolated from one another, highlighting the importance of historical contingency and indicating that natural selection would be constrained to local exploration in the RNA world.
Comparison of Activator-Headgear and Twin Block Treatment Approaches in Class II Division 1 Malocclusion

The purpose was to compare the treatment effects of functional appliances activator-headgear (AH) and Twin Block (TB) on skeletal, dental, and soft-tissue structures in class II division 1 malocclusion with normal growth changes in untreated subjects. The sample included 50 subjects (56% females) aged 8–13 years with class II division 1 malocclusion treated with either AH (n = 25) or TB (n = 25) appliances. Pre- and posttreatment lateral cephalograms were evaluated and compared to 50 untreated class II division 1 cases matched by age, gender, ANB angle, and skeletal maturity. A paired sample, independent samples tests and discriminant analysis were performed for intra- and intergroup analysis. Treatment with both appliances resulted in significant reduction of skeletal and soft-tissue facial convexity, the overjet, and the prominence of the upper lip in comparison to untreated individuals (p < 0.001). Retroclination of maxillary incisors and proclination of mandibular incisors were seen, the latter being significantly more evident in the TB group (p < 0.05). Increase of effective mandibular length was more pronounced in the TB group. In conclusion, both AH and TB appliances contributed successfully to the correction of class II division 1 malocclusion when compared to the untreated subjects with predominantly dentoalveolar changes.
Transcriptomic evidence for microbial sulfur cycling in the eastern tropical North Pacific oxygen minimum zone

Microbial communities play central roles in ocean biogeochemical cycles, and are particularly important in in oceanic oxygen minimum zones (OMZs). However, the key carbon, nitrogen, and sulfur (S) cycling processes catalyzed by OMZ microbial communities are poorly constrained spatially, temporally, and with regard to the different microbial groups involved. Here we sample across dissolved oxygen (DO) gradients in the oceans’ largest OMZ by volume—the eastern tropical North Pacific ocean, or ETNP—and quantify 16S rRNA and functional gene transcripts to detect and constrain the activity of different S-cycling groups. Based on gene expression profiles, putative dissimilatory sulfite reductase (dsrA) genes are actively expressed within the ETNP OMZ. dsrA expression was limited almost entirely to samples with elevated nitrite concentrations, consistent with previous observations in the Eastern Tropical South Pacific OMZ. dsrA and ‘reverse’ dissimilatory sulfite reductase (rdsrA) genes are related and the associated enzymes are known to operate in either direction—reducing or oxidizing different S compounds. We found that rdsrA genes and soxB genes were expressed in the same samples, suggestive of active S cycling in the ETNP OMZ. These data provide potential thresholds for S cycling in OMZs that closely mimic recent predictions, and indicate that S cycling may be broadly relevant in OMZs.
Treatment of Cutaneous Leishmaniasis in Murine Model by Hydro Alcoholic Essence of Artemisia sieberi

Considering the prevalence of leishmaniasis in Iran and many side effects associated with pentavalent antimony compounds use in its treatment, this study was designed to evaluate the effect of Artemisia sieberi essence on the experimental ulcers of cutaneous leishmaniasis on BALB/c mice. Methods: This experimental research was performed to determine the effect of various concentrations of Artemisia essence in BALB/c mice previously infected with active Leishmania major promastigote. A total of 50 infected BALB/c mice were randomly divided into 5 groups. Three groups (30 mice) were used in the experimental condi- tions and the others were assigned as the control groups. The experimental groups received 1%, 3% and 5% of Ar- temisia, respectively. One of the control groups received ethanol 80% and the other received no treatment. The drug was administered by dropping the liquid on the top lesions, three times daily for maximum of 30 d. Every 10 days the ulcers diameter were measured and sampled for amastigote in all groups. Ulcers diameter changes were deter- mined by statistical tests. Results: After 30 days, diameter of CL lesions increased in 1%, 3% and 5% Artemisia concentrations and the control groups. Ulcers got bigger with the more concentration. Treatments could not reduce the diameter or caused small lesions. In addition, the mice direct smears in microscopic studies were positive. Conclusion: To find the effective concentration and the mechanism of the effectiveness of the drug, further investi- gations with less concentrates of A. sieberi essence are recommended.
A comparative study of two angiogenic factors: vascular endothelial growth factor and angiogenin in induced sputum from asthmatic children in acute attack.

BACKGROUND Angiogenesis is a prerequisite for airway remodeling in bronchial asthma. Several factors may play important roles in inflammation and angiogenesis through effects on inflammatory cell infiltration or neovascularization. OBJECTIVES (1) To determine the levels of vascular endothelial growth factor (VEGF) and angiogenin in sputum supernatants of asthmatic children during the acute attack and 6 weeks after start of therapy; and (2) to correlate their levels with the degree of asthma severity. SUBJECTS AND METHODS Twenty asthmatic children with acute attack (mean age, 9.6 +/- 3.5 years [+/- SD]) and 12 sex- and age-matched healthy control children were enrolled in the study. Sputum supernatants were collected for determination of VEGF and angiogenin levels. Serum samples were withdrawn for IgE measurement. The above tests were performed using an enzyme-linked immunosorbent assay. The FEV1 was measured using spirometry. VEGF, angiogenin, and FEV1 estimations were repeated for asthmatic children 6 weeks after start of therapy. RESULTS During the acute attack, asthmatic children had significantly higher levels of VEGF and angiogenin than in healthy control children (p < 0.001). VEGF and angiogenin levels showed more elevation with increase in asthma severity (p < 0.001). A significant positive correlation existed between both angiogenic factors (r = 0.98, p < 0.001). A negative significant correlation was found between FEV1 percentage of predicted and both VEGF (r = -0.99, p < 0.001) and angiogenin (r = -0.97, p < 0.001). A nonsignificant correlation was found between serum IgE and sputum VEGF (r = 0.09, p > 0.05). Although there was a significant decrease in the levels of both VEGF and angiogenin after 6 weeks of treatment with corticosteroid inhalation therapy, the levels did not reach normal control levels (p < 0.001 and p < 0.05, respectively). CONCLUSIONS Our results show that both VEGF and angiogenin levels were elevated in children with acute asthma. The study also suggests that increased severity of bronchial asthma in children is associated with the expression of both angiogenic factors, which are implicated in asthma pathogenesis. After 6 weeks of therapy, the levels of both angiogenic factors showed significant decrease.
Trace: Tennessee Research and Creative Exchange Nursing Publications and Other Works Nursing Sleep Quality and Health-related Quality of Life in Hiv-infected African-american Women of Childbearing Age Recommended Citation Sleep Quality and Health-related Quality of Life in Hiv-infected African-ameri

(2005). Sleep quality and health-related quality of life in HIV-infected African-American women of childbearing age. Abstract A descriptive, correlational design was used to examine the associations of sleep quality and stage of illness with health-related quality of life (HRQOL) in HIV-infected African-American women. Participants were recruited from 12 health clinics and AIDS service organizations (ASO) in Georgia, North Carolina, and South Carolina. The sample consisted of 144 African-American women who ranged in age from 20 to 48 years (m ¼ 34.8, SD ¼ 6.8). The Pittsburgh Sleep Quality Index (PSQI) and the Medical Outcomes Short-Form Health Survey (SF-36) were administered. Participants were categorized as good sleepers (PSQI global score <7) or poor sleepers (PSQI global score ! 7) using the median global sleep quality score. Differences in HRQOL between good and poor sleepers, as measured by the SF-36, were tested using MANOVA. Good sleepers scored significantly higher (p < 0.0001) for each SF-36 quality of life dimension and the mental and physical health summary scores. Multiple regression analysis indicated that sleep quality is associated with HRQOL, independent of the individual's stage of illness, more so with mental HRQOL than with physical HRQOL. The results suggest that treatment for poor sleep quality should be a primary concern for the treatment of HIV infection and a means for improving HRQOL.
ON TRENDS IN HERRING POPULATIONS AND TROPHODYNAMICS Co-convenors :

A 2-day REX Workshop on “Trends in herring populations and trophodynamics” was convened prior to the Ninth Annual Meeting in Hakodate, Japan (October 20-21, 2000). Papers were presented by 8 speakers from among 25-30 participants. At the workshop, we learned that there are long time series (80+ years) of data for herring populations related to catch, size-at-age, length and weight, spawning time, distribution and age composition. Shorter time series are available for biomass estimates, age-structured abundances, survival index, production and instantaneous growth rates. Process studies have examined food habits and energetics, vertical distribution, timing of migration, age-specific habitat requirements, larval survival and distribution, juvenile abundance and distribution, genetic structure of populations, densities of herring aggregations, gonad weight and fecundity and key competitors and predators.
Study and application of new Raman spectroscopy

Spatially Offset Raman Spectroscopy (SORS) is a new type of Raman Spectroscopy technology, which can detect the medium concealed in the opaque or sub-transparent material fast and nondestructively. The article summarized Spatially Offset Raman Spectroscopy`s international and domestic study and application progress on contraband detecting, medical science (bone ingredient, cancer diagnose etc.), agricultural products, historical relic identification etc. and stated the technology would become an effective measurement which had wide application prospect.
Polyelectrostatic interactions of disordered ligands suggest a physical basis for ultrasensitivity

Regulation of biological processes often involves phosphorylation of intrinsically disordered protein regions, thereby modulating protein interactions. Initiation of DNA replication in yeast requires elimination of the cyclin-dependent kinase inhibitor Sic1 via the SCFCdc4 ubiquitin ligase. Intriguingly, the substrate adapter subunit Cdc4 binds to Sic1 only after phosphorylation of a minimum of any six of the nine cyclin-dependent kinase sites on Sic1. To investigate the physical basis of this ultrasensitive interaction, we consider a mean-field statistical mechanical model for the electrostatic interactions between a single receptor site and a conformationally disordered polyvalent ligand. The formulation treats phosphorylation sites as negative contributions to the total charge of the ligand and addresses its interplay with the strength of the favorable ligand–receptor contact. Our model predicts a threshold number of phosphorylation sites for receptor–ligand binding, suggesting that ultrasensitivity in the Sic1–Cdc4 system may be driven at least in part by cumulative electrostatic interactions. This hypothesis is supported by experimental affinities of Cdc4 for Sic1 fragments with different total charges. Thus, polyelectrostatic interactions may provide a simple yet powerful framework for understanding the modulation of protein interactions by multiple phosphorylation sites in disordered protein regions.
In 2532 Children we Report the Developmental Factors Influencing the Development of Atopic Diseases

Allergic asthma and rhinitis, atopic dermatitis (AD), urticaria and gastrointestinal allergy, are common diseases of infants and children. It was recently estimated that 14% of children suffer from AD, 8% from food allergy, and 12% from asthma [1,2]. The cumulated incidence of these diseases in adolescents has been estimated between 25-35%, while the prevalence is about 20% [3]. The phenotypic expression of these illnesses varies extensively, being very mild in some cases, severe in many, and even life threatening in others. Specific IgE antibodies to foods and positive challenge tests to a number of food allergens are frequently present in children with these disorders. Cow’s milk (CM) appears to be the most common offending food both in gastrointestinal (vomiting, diarrhea, etc) and in cutaneous manifestations (urticaria and AD). About 0.5-7% of infants suffer from more or less adverse reactions to CM [4]. Atopy can interfere with a child’s at any level, with varying severity. Intractable diarrhea due to CM allergy (CMA) and AD frequent in where the clinical manifestations are more severe than in older children. Respiratory allergy and bronchial asthma can serious in as well as in children. The understand the multifaceted of atopy has stimulated the clinicians’ and academicians’ imagination for decades. Therefore interest has been focused on methods for the prediction and prevention of atopy [5-9]. Prevention of IgE-mediated diseases relies on the skill necessary to overcome the natural forces unceasingly working to sensitize humans to produce IgE antibodies. The phenotypic expression of allergic disease ensues from an elaborate interrelationship between the atopy-prone genetic constitution of a child and the experienced environment that surrounds it. Prevention of atopy could potentially be met by selectively interfering with the genetic and environmental factors that appear to be responsible in concert for the final phenotypic expression of atopy. Human milk has been for centuries the only way of feeding human neonates. Since the beginning of this century CM formulas have become a common breast milk substitute when mother’s milk was not available. During this century and especially in the last decade other formulas have been developed in order to reduce the antigen load and therefore the risk of sensitization. In this paper we will briefly summarize recent data on the environmental factors triggering atopy. In addition, we will report recent knowledge on atopy prevention, also reviewing the so-called hypoallergenic formulas.