Miracle-dz/UniFAR-FTUs huggingface dataset:
OPA3 gene mutations responsible for autosomal dominant optic atrophy and cataract

Hereditary optic atrophy is a generic term that refers to a heterogeneous group of genetic disorders for which several modes of inheritance have been described.1 The most common forms of optic atrophy are autosomal dominant optic atrophy (ADOA, OMIM 165500) and Leber’s hereditary optic neuropathy (LHON, OMIM 53500). ADOA, which generally starts in childhood, is characterised by a progressive decrease in visual acuity, blue-yellow dyschromatopsia, loss of sensitivity in the central visual field, and optic nerve pallor. Mutations in the optic atrophy 1 ( OPA1 ) gene, located on chromosome 3q28–q29, are implicated in about 60–80% of the cases of ADOA.1–4 OPA1 encodes for a mitochondrial dynamin related protein. This protein, anchored to the mitochondrial inner membrane, contributes to mitochondrial structure and biogenesis.5,6 A second gene involved in ADOA, not yet identified, has been mapped to chromosome 18q ( OPA4 , OMIM 605293). 7 LHON, which is caused by specific mutations in mitochondrial DNA, is inherited maternally.8 It is characterised by severe bilateral optic atrophy responsible for acute or subacute visual loss, usually starting between the ages of 18 and 35. Other forms of hereditary optic atrophy include X linked optic atrophy (XLAO, OPA2 , OMIM 311050)9 and autosomal recessive optic atrophy (AROA), for which a first locus has recently been mapped to chromosome 8q.10 Finally, more than 15 disorders—mostly inherited in the autosomal recessive mode—have combined optic atrophy and extraocular anomalies. Among these syndromic optic atrophies, type III 3-methylglutaconic aciduria (MGA) (OMIM 258501), also known as the Costeff syndrome11 or the optic atrophy plus syndrome, consists of early onset bilateral optic atrophy, later onset spasticity, extrapyramidal signs, and cognitive deficit. Urinary excretion of 3-methyl glutaconic acid and increased plasma 3-methylglutaric acid levels are the hallmarks of MGA.12 Linkage analyses, undertaken in MGA …
Environmental Health: a Global Access Science Source Hazardous Waste Sites and Stroke in New York State

Background: Environmental exposure to persistent organic pollutants (POPs) may lead to elevation of serum lipids, increasing risk of atherosclerosis with thromboembolism, a recognized cause of stroke. We tested the hypothesis that exposure to contaminants from residence near hazardous waste sites in New York State influences the occurrence of stroke.
Restrictive Cardiomyopathy

Restrictive cardiomyopathy (RCM) is a myocardial disorder that usually results from increased myocardial stiffness that leads to impaired ventricular filling. Biventricular chamber size and systolic function are usually normal or nearnormal until later stages of the disease. Affecting either or both ventricles, RCM may cause signs or symptoms of left or right heart failure. Arrhythmias and conduction disturbances are frequently encountered. RCM may result from inherited or acquired predispositions and disease or a combination thereof, which broadly can be classified as infiltrative, storage disease, noninfiltrative, and endomyocardial (Table 1). Because of the heterogenous nature of the origins and manifestations of the RCMs and the concomitant challenges in diagnosing these diseases, it is difficult to accurately estimate the incidence and prevalence of any of the RCMs. Based on the current evidence, RCM is the least common of the cardiomyopathies. There are regional differences among the prevalence of RCM according to the cause. For example, endomyocardial fibrosis is primarily seen in the tropics and sub-Saharan Africa, whereas cardiac amyloidosis (CA) is more commonly diagnosed in other regions. Most causes of RCM are acquired. However, mapping several gene mutations as a cause of RCM have been recognized. These include mutations in the sarcomere subunits, such as troponin T (TNNT2 gene), troponin I (TNNI3), α-actin (ACTC), and β-myosin heavy chain Cardiomyopathy Compendium
Concurrent Dynamics of Category Learning and Metacognitive Judgments

In two experiments, we examined the correspondence between the dynamics of metacognitive judgments and classification accuracy when participants were asked to learn category structures of different levels of complexity, i.e., to learn tasks of types I, II, and III according to Shepard et al. (1961). The stimuli were simple geometrical figures varying in the following three dimensions: color, shape, and size. In Experiment 1, we found moderate positive correlations between confidence and accuracy in task type II and weaker correlation in task type I and III. Moreover, the trend analysis in the backward learning curves revealed that there is a non-linear trend in accuracy for all three task types, but the same trend was observed in confidence for the task type I and II but not for task type III. In Experiment 2, we found that the feeling-of-warmth judgments (FOWs) showed moderate positive correlation with accuracy in all task types. Trend analysis revealed a similar non-linear component in accuracy and metacognitive judgments in task type II and III but not in task type I. Our results suggest that FOWs are a more sensitive measure of the progress of learning than confidence because FOWs capture global knowledge about the category structure, while confidence judgments are given at the level of an individual exemplar.
Nutritional deficiencey and anemia in Latin America: A collaborative study.

A collaborative study of nutritional anemia in 3rd trimester pregnancy was performed in the Latin American countries of Argentina Brazil Colombia Guatemala Mexico Peru and Venezuela. Laboratory measurements included hemoglobin level mean corpuscular hemoglobin concentration (MCHC) serum iron and iron-binding capacity serum folate vitamin B12 and albumin. Iron deficiency (transferrin saturation below 15%) was found in 48% of pregnant women as compared with 21% of non-pregnant females and 3% of male controls of comparable age. The prevalence of folate deficiency was 10% 10% and 9% in these 3 groups respectively. Vitamin B12 deficiency was found in 15% of pregnant women but in less than 1% of both control groups. Anemia as defined by current World Health Organization (WHO) criteria was found in 38.5% of pregnant women 17.3% of nonpregnant women and 3.1% of men. Analysis of the frequency distribution for hemoglobin levels based on a Gaussian distribution in normal subjects suggested that a large portion of subjects considered anemic by WHO Criteria were normal and that the true incidence of anemia in pregnant and nonpregnant females was 22 and 12% respectively. Correlation analysis indicated that iron deficiency was of major importance as a cause of anemia; folate lack was contributory only in pregnancy. No relationship could be demonstrated between vitamin B12 deficiency and anemia. (AUTHORS MODIFIED)
Estimating Trends and Variation of Net Biome Productivity in India for 1980–2012 Using a Land Surface Model

In this paper we explore the trend in net biome productivity (NBP) over India for the period 1980–2012 and quantify the impact of different environmental factors, including atmospheric CO2 concentrations ([CO2]), land use and land cover change, climate, and nitrogen deposition on carbon fluxes using a land surface model, Integrated Science Assessment Model. Results show that terrestrial ecosystems of India have been a carbon sink for this period. Driven by a strong CO2 fertilization effect, magnitude of NBP increased from 27.17 TgC/yr in the 1980s to 34.39 TgC/yr in the 1990s but decreased to 23.70 TgC/yr in the 2000s due to change in climate. Adoption of forest conservation, management, and reforestation policies in the past decade has promoted carbon sequestration in the ecosystems, but this effect has been offset by loss of carbon from ecosystems due to rising temperatures and decrease in precipitation.
Reducing the Risk of Pre-Eclampsia in Women with Polycystic Ovary Syndrome Using a Combination of Pregnancy Screening, Lifestyle, and Medical Management Strategies

Polycystic ovary syndrome (PCOS) is a multisystem disorder that presents with a variety of phenotypes involving metabolic, endocrine, reproductive, and psychological symptoms and signs. Women with PCOS are at increased risk of pregnancy complications including implantation failure, miscarriage, gestational diabetes, fetal growth restriction, preterm labor, and pre-eclampsia (PE). This may be attributed to the presence of specific susceptibility features associated with PCOS before and during pregnancy, such as chronic systemic inflammation, insulin resistance (IR), and hyperandrogenism, all of which have been associated with an increased risk of pregnancy complications. Many of the features of PCOS are reversible following lifestyle interventions such as diet and exercise, and pregnant women following a healthy lifestyle have been found to have a lower risk of complications, including PE. This narrative synthesis summarizes the evidence investigating the risk of PE and the role of nutritional factors in women with PCOS. The findings suggest that the beneficial aspects of lifestyle management of PCOS, as recommended in the evidence-based international guidelines, extend to improved pregnancy outcomes. Identifying high-risk women with PCOS will allow targeted interventions, early-pregnancy screening, and increased surveillance for PE. Women with PCOS should be included in risk assessment algorithms for PE.
One-year outcomes of a randomized controlled trial of an educational-behavioural joint protection programme for people with rheumatoid arthritis.

OBJECTIVE Joint protection aims to reduce pain and local inflammation, preserve the integrity of joint structures and improve function. There is evidence that it can improve pain and function in the short term, but the long-term effects are uncertain. This study evaluated the effects of joint protection in early rheumatoid arthritis (RA). METHODS A randomized, controlled, assessor-blinded trial of duration 1 yr was conducted. Two interventions (both 8 h) were compared: standard arthritis education, including 2.5 h of joint protection education based on typical UK practice; and a joint protection arthritis education programme, using educational-behavioural teaching methods. Assessments were made at entry and 6 and 12 months. RESULTS Sixty-five people with RA attended the joint protection programme and 62 the standard programme. The groups were matched for age (51 and 49 yr), disease duration (21 and 17.5 months) and use of non-steroidal anti-inflammatory drugs and disease-modifying anti-rheumatic drugs. In comparison with the standard group, the joint protection group significantly improved with respect to adherence to the joint protection programme (P=0.001), hand pain (P=0.02), general pain (P=0.05), early morning stiffness (P=0.01), self-reported number of disease flare-ups (P=0.004), visits to the doctor for arthritis (P<0.01), and the AIMS2 (Arthritis Impact Measurement Scales) activities of daily living scale (P=0.04). A trend to improved swollen joint counts was identified (P=0.07). Within-group analyses also showed improvements in arthritis self-efficacy and perceived control. Hand deformity scores continued to increase in both groups. CONCLUSION We found significant improvements in adherence, pain, disease status and functional ability amongst those attending the joint protection programme. Benefits became more apparent with time, suggesting that joint protection can help slow the progression of the effects of RA over and above the effects of drug therapy.
Effects of Zinc Chloride on Guinea Pig Complement Component Activity In Vitro: Concentration-Dependent Inhibition And Enhancement

We have studied the in vitro effects of zinc chloride on the hemolytic activity of each component of the guinea pig classical complement pathway over a wide range (25 to 500 μM) of zinc concentrations. At high concentrations (>200 μM) the activity of all components was strongly inhibited by this metal. Concentrations of 500 μM inhibited C1 and C5 by 80 and 65%, respectively, whereas all other components were inhibited by more than 94%. Zinc chloride at 25 μM produced more varied effects, with C2, C3, and C6 inhibited by 36, 35, and 55%. C7 and C8 were inhibited by approximately 25%, whereas C1, C4, and C9 were not appreciably affected. The activity of the fifth component, on the other hand, was strongly enhanced by the presence of zinc. Concentrations of 25, 50, and 100 μM zinc chloride produced increases of 92, 44, and 18%, respectively, in C5 titers when present during the activation-binding step of this component. Further studies indicated that the activities of cell-bound complement components were unaffected by zinc treatment after activation and/or binding to the sheep erythrocyte surface had occurred. In addition, zinc did not appear to inhibit by causing irreversible denaturation of either total complement proteins or its various components. Rather, it appears that zinc must be present as a reactant during the activation and/or binding step of each component for inhibition or enhancement to occur.
MODIS Based Estimation of Forest Aboveground Biomass in China

Accurate estimation of forest biomass C stock is essential to understand carbon cycles. However, current estimates of Chinese forest biomass are mostly based on inventory-based timber volumes and empirical conversion factors at the provincial scale, which could introduce large uncertainties in forest biomass estimation. Here we provide a data-driven estimate of Chinese forest aboveground biomass from 2001 to 2013 at a spatial resolution of 1 km by integrating a recently reviewed plot-level ground-measured forest aboveground biomass database with geospatial information from 1-km Moderate-Resolution Imaging Spectroradiometer (MODIS) dataset in a machine learning algorithm (the model tree ensemble, MTE). We show that Chinese forest aboveground biomass is 8.56 Pg C, which is mainly contributed by evergreen needle-leaf forests and deciduous broadleaf forests. The mean forest aboveground biomass density is 56.1 Mg C ha−1, with high values observed in temperate humid regions. The responses of forest aboveground biomass density to mean annual temperature are closely tied to water conditions; that is, negative responses dominate regions with mean annual precipitation less than 1300 mm y−1 and positive responses prevail in regions with mean annual precipitation higher than 2800 mm y−1. During the 2000s, the forests in China sequestered C by 61.9 Tg C y−1, and this C sink is mainly distributed in north China and may be attributed to warming climate, rising CO2 concentration, N deposition, and growth of young forests.
Global Freshwater Availability Below Normal Conditions and Population Impact Under 1.5 and 2 °C Stabilization Scenarios

Based on the large ensembles of the half a degree additional warming, prognosis, and projected impacts historical, +1.5 and +2 °C experiments, we quantify changes in the magnitude of water availability (i.e., precipitation minus actual evapotranspiration; a function of monthly precipitation flux, latent heat flux, and surface air temperature) below normal conditions (less than median, e.g., 20th percentile water availability). We found that, relative to the historical experiment, water availability below normal conditions of the +1.5 and +2 °C experiments would decrease in the midlatitudes and the tropics, indicating that hydrological drought is likely to increase in warmer worlds. These cause more (less) people in East Asia, Central Europe, South Asia, and Southeast Asia (West Africa and Alaska/Northwest Canada) to be exposed to water shortage. Stabilizing warming at 1.5 °C instead of 2 °C would limit population impact in most of the regions, less effective in Alaska/Northwest Canada, Southeast Asia, and Amazon. Globally, this reduced population impact is ~117 million people.
Correlation search in graph databases

Correlation mining has gained great success in many application domains for its ability to capture the underlying dependency between objects. However, the research of correlation mining from graph databases is still lacking despite the fact that graph data, especially in various scientific domains, proliferate in recent years. In this paper, we propose a new problem of correlation mining from graph databases, called Correlated Graph Search (CGS). CGS adopts Pearson's correlation coefficient as a correlation measure to take into consideration the occurrence distributions of graphs. However, the problem poses significant challenges, since every subgraph of a graph in the database is a candidate but the number of subgraphs is exponential. We derive two necessary conditions which set bounds on the occurrence probability of a candidate in the database. With this result, we design an efficient algorithm that operates on a much smaller projected database and thus we are able to obtain a significantly smaller set of candidates. To further improve the efficiency, we develop three heuristic rules and apply them on the candidate set to further reduce the search space. Our extensive experiments demonstrate the effectiveness of our method on candidate reduction. The results also justify the efficiency of our algorithm in mining correlations from large real and synthetic datasets.
On Dynamic Distributed Computing

This paper shows for the first time that distributed computing can be both reliable and efficient in an environment that is both highly dynamic and hostile. More specifically, we show how to maintain clusters of size $O(\log N)$, each containing more than two thirds of honest nodes with high probability, within a system whose size can vary \textit{polynomially} with respect to its initial size. Furthermore, the communication cost induced by each node arrival or departure is polylogarithmic with respect to $N$, the maximal size of the system. Our clustering can be achieved despite the presence of a Byzantine adversary controlling a fraction $\bad \leq \{1}{3}-\epsilon$ of the nodes, for some fixed constant $\epsilon > 0$, independent of $N$. So far, such a clustering could only be performed for systems who size can vary constantly and it was not clear whether that was at all possible for polynomial variances.
Differential Requirement of RasGRP1 for γδ T Cell Development and Activation

γδ T (γδT) cells belong to a distinct T cell lineage that performs immune functions different from αβ T (αβT) cells. Previous studies established that Erk1/2 MAPKs are critical for positive selection of αβT cells. Additional evidence suggests that increased Erk1/2 activity promotes γδT cell generation. RasGRP1, a guanine nucleotide-releasing factor for Ras, plays an important role in positive selection of αβT cells by activating the Ras–Erk1/2 pathway. In this article, we demonstrate that RasGRP1 is critical for TCR-induced Erk1/2 activation in γδT cells, but it exerts different roles for γδT cell generation and activation. Deficiency of RasGRP1 does not obviously affect γδT cell numbers in the thymus, but it leads to increased γδT cells, particularly CD4−CD8+ γδT cells, in the peripheral lymphoid organs. The virtually unhindered γδT cell development in the RasGRP1−/− thymus proved to be cell intrinsic, whereas the increase in CD8+ γδT cells is caused by non–cell-intrinsic mechanisms. Our data provide genetic evidence that decreased Erk1/2 activation in the absence of RasGRP1 is compatible with γδT cell generation. Although RasGRP1 is dispensable for γδT cell generation, RasGRP1-deficient γδT cells are defective in proliferation following TCR stimulation. Additionally, RasGRP1-deficient γδT cells are impaired to produce IL-17 but not IFNγ. Together, these observations revealed that RasGRP1 plays differential roles for γδ and αβ T cell development but is critical for γδT cell proliferation and production of IL-17.
Modulating cardiac hypertrophy by manipulating myocardial lipid metabolism?

The heart responds by hypertrophic growth to a variety of extrinsic stimuli, such as arterial hypertension and valvular heart disease, and to intrinsic contractile abnormalities resulting from sarcomeric gene mutations (reviewed in 1). Although it initially may serve to adapt the myocardium to increased wall tension, prolonged hypertrophy frequently results in myocyte disarray and apoptosis, as well as ventricular fibrosis, with resulting progression to heart failure and sudden death.2 A plethora of signaling cascades have been implicated in the activation of the hypertrophic gene program and cardiomyocyte growth.3 In contrast, relatively little is known about intrinsic mechanisms with the potential to inhibit or even reverse hypertrophy. The ability to harness such mechanisms offers promise in the development of novel therapeutic strategies to overcome the maladaptive consequences of hypertrophy. See p 1240 Fuel generation in the adult myocardium relies on the oxidation of long chain fatty acids by the mitochondria for production of ATP. Cardiac hypertrophy is associated with a suppression of fatty acid oxidation and metabolic reversion of the heart toward increased glucose utilization, which is characteristic of the fetal heart.4 This metabolic shift can be viewed as an adaptive response, because it decreases myocardial oxygen consumption per mole of ATP generated. It is unclear at present, however, which maladaptive sequelae might result from chronically impaired oxidation of fatty acids in the heart, such as increased lipid accumulation.5 The genes involved in fatty acid oxidation are primarily regulated by a family of transcription factors that are referred to as peroxisome proliferator-activated receptors (PPARs). The three …
Analysis of the Role of Stakeholders in the Development of e-Goverment (Study on West Seram Regency)

This research aims to analyze the role and involvement of stakeholders in egovernment development in the West Seram Regency. This research aims to find out the stakeholders involved and participate in the e-government development process, as well as their interests, influences, and interactions intertwined among the stakeholders. This research has been done under the descriptive qualitative method. Field observation methods, limited interviews conducted with some related governmental departments, and documentation to support research data have been used in data collection. Stakeholders that have been identified were then classified based on the level of interest and influence, which will then be seen through the interactions between stakeholders. Keywords: e-government, stakeholder role analysis program development
Optimization of Voltage Doublers for Energy Harvesting Applications

Energy harvesting is increasingly enabling the expansion of wireless sensor networks in challenging applications by replacing batteries in low power sensors. Many forms of energy harvester suffer from low output voltage that can be partially compensated for by the use of a Cockcroft-Walton voltage doubler ahead of a dc-dc converter. Impedance matching of energy harvesters is critical to achieve high output power/unit volume. This paper explores optimum impedance match for an energy harvester with a voltage doubler and dc-dc converter. Formulas are derived and experimentally confirmed, which calculate optimum impedance match between the harvester and a load, and calculate voltage at the input to the dc-dc converter for a given wireless sensor power consumption. Further, the formula for optimum impedance match is validated against independently published results.