Miracle-dz/UniFAR-FTUs huggingface dataset:
BTKbase: the mutation database for X‐linked agammaglobulinemia

X‐linked agammaglobulinemia (XLA) is a hereditary immunodeficiency caused by mutations in the gene encoding Bruton tyrosine kinase (BTK). XLA patients have a decreased number of mature B cells and a lack of all immunoglobulin isotypes, resulting in susceptibility to severe bacterial infections. XLA‐causing mutations are collected in a mutation database (BTKbase), which is available at http://bioinf.uta. fi/BTKbase. For each patient the following information is given (when available): the identification of the entry, a plain English description of the mutation followed by a reference, formal characterization of the mutation, and the various parameters from the patient. BTKbase is implemented with the MUTbase program suite, which provides an easy, interactive, and quality controlled submission of information to mutation databases. BTKbase version 8 lists mutation entries of 1,111 patients from 973 unrelated families showing 602 unique molecular events. The localization of the mutations on the gene and protein for BTK can be analyzed by clicking sequences on the web pages. The distribution of the mutations in the five structural domains is approximately proportional to the length of the domains, except for the Tec homology (TH) domain. The most frequently affected sites are CpG dinucleotides. The majority of the missense mutations are structural—disturbing Bruton tyrosine kinase (Btk) folding or decreasing stability. Many of the mutations affect functionally significant, conserved residues. The structural consequences of the mutations in all the domains have been studied based on crystallographic and nuclear magnetic resonance (NMR) structures as well as computer‐aided molecular modeling. Hum Mutat 27(12), 1209–1217, 2006. © 2006 Wiley‐Liss, Inc.
Hepatic mitochondrial proliferation in rats with secondary biliary cirrhosis: Time course and mechanisms

It is well known that the hepatic mitochondrial protein content is increased in rats 4 weeks after bile duct ligation. In the present study, we measured the time course of this increase and assessed the levels of selected mitochondrial messenger RNA (mRNA) species and the rate of mitochondrial protein synthesis by isolated mitochondria. Three days after surgery, the mitochondrial protein content was not significantly different between bile duct‐ligated (BDL) and control rats, averaging 1,140 ± 220 mg/liver in BDL and 1,260 ± 50 mg/liver in sham‐operated control rats. However, in comparison with control rats, it was increased in BDL rats by 35% at 7 days, by 81% at 14 days, and by 27% at 28 days after surgery. In vitro mitochondrial protein synthesis, which was assessed as the fractional incorporation of [35S]‐methionine into mitochondrial protein, was not different between BDL and control rats at 3 days after surgery, but was decreased in BDL rats by 63% at 7 days, by 55% at 14 days, and by 36% at 28 days after surgery. Northern blot analysis revealed an increase in the mRNA levels of adenosine triphosphate (ATP)ase subunit 6 and apocytochrome b in BDL rats at day 7, but no significant differences between BDL and control rats in mitochondrial mRNA and ribosomal RNA species 14 and 28 days after surgery. These results show that the hepatic mitochondrial protein content rises early after surgery in BDL rats, but this rise cannot be ascribed to elevated rates of mitochondrial protein synthesis. Thus, increased synthesis of nuclearly encoded mitochondrial proteins and/or decreased degradation of mitochondrial proteins appear likely mechanisms that lead to the observed increase in the hepatic mitochondrial protein content in BDL rats.
N-Terminal-proB-Type Natriuretic Peptide as a Marker for Acute Anthracycline Cardiotoxicity in Children

Background Anthracyclines are widely used in the treatment of pediatric cancer but their use is associated with cardiotoxicity. The cardiotoxic effect may become clinically apparent many years after therapy, and no reliable method exists for early detection of cardiac damage while the patient is receiving the drug. The natriuretic peptides have been established as markers for anthracycline-induced cardiotoxicity in adults and markers for cardiac dysfunction in children. We examined whether N-terminal proB-type natriuretic peptide (NT-proBNP) may be used as a marker for anthracycline-induced cardiotoxicity in children. Methods Twenty-three consecutive pediatric patients with newly diagnosed cancer were enrolled in this study. All patients received anthracycline-containing chemotherapy. Fifty-four age-matched children served as controls. Serial measurements of plasma NT-proBNP levels were taken before and after each anthracycline-containing course. Echocardiograms were performed before initiation of treatment and at the end of the study. Results Plasma levels of NT-proBNP were within normal limits before treatment and increased significantly only after the first anthracycline dose (from 150±112 to 327±321 pg/mL, mean±SD, P=0.02) and not after subsequent doses. This increase was attributed mainly to a subgroup of patients who received more than 25 mg/m2 of doxorubicin. In 14 patients (61%), the highest NT-proBNP level occurred after the first anthracycline dose. All patients had normal echocardiograms and none developed heart failure. Conclusions NT-proBNP increases significantly after the first anthracycline course in a subset of pediatric cancer patients. This increase is not associated with clinical or echocardiographic evidence of cardiac dysfunction. Anthracyclines may be more cardiotoxic in the first course than in subsequent courses. Longer follow-up of these patients is necessary to determine whether NT-proBNP can be used as an early marker for anthracycline-induced cardiotoxicity.
ORTHOTOPIC LIVER TRANSPLANTATION : radiological findings with anatomopathological correlation in Brazil

Background Hepatocellular carcinoma is one of the most common malignant tumors worldwide. Imaging techniques, specially computed tomography and ultrasound, are among the most useful diagnostic tools, although the accuracy of these methods may have a significant variability. Aims To determine the prevalence of hepatocellular carcinoma in cirrhotic patients undergoing orthotopic liver transplantation at “Santa Casa de Misericórdia” of Porto Alegre, RS, Brazil; to estimate the sensitivity of computed tomography and ultrasound in pretransplantation detection of hepatocellular carcinoma in this population; to correlate the radiological characteristics with anatomopathological findings. Materials and Methods Retrospective prevalence study. Population: adult, cirrhotic patients undergoing orthotopic liver transplantation from January 1990 to July 2003. Among the 292 transplanted patients, 31 cases of hepatocellular carcinoma were diagnosed, of which 29 were included in the study. Tumor characteristics in both ultrasound and computed tomography were compared to those observed in anatomopathological examination. Results Prevalence of hepatitis C virus infection among patients with diagnosis of hepatocellular carcinoma was 93.5%, and the prevalence of hepatocellular carcinoma among transplanted patients was 10.6%. The overall sensitivity of the imaging techniques was 70.3% for computed tomography and 72% for ultrasound. Conclusion The prevalence of hepatocellular carcinoma at our institution, as well as the sensitivity of both ultrasound and computed tomography to detect such tumors at pretransplantation screening were similar to those found by other authors, while the prevalence of hepatitis C virus infection, the most common etiological agent for liver disease in our patients, is one of the highest ever reported in literature. Factors influencing hepatocellular carcinoma detection rates were: time from examination to liver transplantation; acquisition of computed tomography images during arterial phase; lesion size. Arterial phase proved to be the most useful part of computed tomography examination in this study. HEADINGS – Hepatocellular carcinoma. Liver transplantation. Tomography. Ultrasonography. This work was performed at “Santa Casa de Misericórdia de Porto Alegre”, RS, Brazil. 1 Department of Radiology, “Santa Casa de Misericórdia de Porto Alegre”; 2 Department of Pathology, Federal University of Rio Grande do Sul, Porto Alegre; 3 Federal University of Rio Grande do Sul, Porto Alegre; 4 Department of Radiology, “Hospital de Clínicas de Porto Alegre”; 5 Division of Transplantation, “Santa Casa de Misericórdia de Porto Alegre”; 6 Department of Surgery, “Hospital Ernesto Dorneles”, Porto Alegre, RS, Brazil. Address for correspondence: Dr. Vinicius Labrea Resende Av. Prot�sio Alves, 3928�306 – Petrópolis 91310-000 Porto Alegre, RS, Brazil. E-mail: vresende@terra.com. br
Tolerance Issues in Russian Schools

The principal of the well-known Moscow school, Academician of the Russian Academy of Education, reflects on the moral lessons of history, the problem of their educational impact on the modern young generation, the teacher’s responsibility for shaping the outlook of schoolchildren, and a true dialogue with them. The purpose of genuine education is moral behaviour, and it is impossible without recognizing a person’s personal responsibility for his actions.
Sexual values and risky sexual behaviors among Latino youths.

CONTEXT Understanding Latino youths' sexual values is key to informing HIV prevention efforts. Few studies have examined associations between culturally based sexual values and behaviors among Latinos. METHODS A sample of 839 sexually active Latinos aged 16-22 residing in San Francisco were interviewed in 2003-2006. Multiple regression and multinomial logistic regression analyses were conducted to examine associations between sexual values and behaviors, while adjusting for language use (a proxy for acculturation) and other covariates. RESULTS The importance attached to female virginity was negatively associated with the number of sexual partners women had had in their lifetime (odds ratio, 0.8) and in the past year (0.9), and was positively associated with women's nonuse of condoms, rather than consistent use, during the first month of their current relationships (1.8). For men, the importance of satisfying sexual needs increased with the numbers of lifetime and recent sexual partners (1.4 and 1.1, respectively), and with inconsistent condom use in the first month of their relationships (1.9). Comfort with sexual communication was positively associated with inconsistent use or nonuse of condoms in the last month of both men's and women's current relationships (2.0-2.2). For women, considering satisfaction of sexual needs important was associated with more sexual partners only among those who attached little value to female virginity. CONCLUSIONS It is important to integrate themes of virginity and sexual desire into intervention curricula so youth can better understand how these sexual norms influence their developing sexual identities and behaviors.
Time to death and mast cell degranulation in fatal asthma

Background and objective: Attacks of fatal asthma have been shown to be either of short duration or long duration and associated with differing degrees of smooth muscle contraction, luminal mucus deposition and ratios of eosinophils to neutrophils in the airway wall. We hypothesized that this bimodal distribution might be related to airway mast cell degranulation.
Adoption and use of mobile technologies for learning among smallholder farmer communities in Uganda

Mobile learning (mLeaming) in formal education is getting wide spread but little is known about how to adopt mLeaming in non-formal contexts among smallholder farmer communities, who constitute the majority in most African states. These rely on agriculture, yet their livelihoods are affected by immense changes in seasons. Smallholder farmers' access to mobile phones can act as bridges in supporting learning for secure livelihoods. Using the Unified Theory of Acceptance and Use of Technology (UTAUT), we have conducted multiple case studies of the Community Knowledge Worker project in Uganda. The intention was to analyse mobile learning adoption and use practices among farmers. Based on our findings, organisational scaffolding, social influence, peer support, immediate learning impacts, and increased output were key factors that aided learning and adoption of mobile technologies. Although adoption and use practices were facilitated by organisational scaffolding, the future of mLeaming use in resource limited environments is promising.
A low cost single-phase grid-connected photovoltaic system with reduced complexity

This paper presents a grid-connected photovoltaic (PV) system using the classical DC-DC buck converter, which is responsible for stepping down the resulting voltage from several series-connected panels. Besides, the buck converter provides sinusoidal current injected into the utility grid, which is possible by using hysteresis modulation. A CSI inverter employing thyristors is cascaded with the DC-DC stage so that AC voltage results. The inverter output voltage level is adjusted by using a low frequency transformer, which also provides galvanic isolation. Low cost, simplicity, and reduced harmonic content of the injected current are direct advantages of the proposed system, which is designed and analyzed by simulation. An experimental prototype is also implemented, as relevant results are presented and discussed.
Power law tails in phylogenetic systems

Significance Covariance analysis of protein sequence alignments can predict structure and function from sequence alignments alone. Current methodologies typically assume that sequences are independent, notwithstanding their phylogenetic relationships. This corruption constrains the alignments for which covariance analysis can be used. It is critically important to control for phylogeny and understand how phylogeny contaminates signal. This paper presents a mathematical analysis that argues that there is a distinctive signature of phylogeny in the covariance matrix, allowing us to identify modes that are corrupted by phylogeny. This signature is present in large protein sequence alignments, explaining recent covariance analyses, and provides an important step toward decoupling phylogenetic effects from biologically meaningful interactions. Covariance analysis of protein sequence alignments uses coevolving pairs of sequence positions to predict features of protein structure and function. However, current methods ignore the phylogenetic relationships between sequences, potentially corrupting the identification of covarying positions. Here, we use random matrix theory to demonstrate the existence of a power law tail that distinguishes the spectrum of covariance caused by phylogeny from that caused by structural interactions. The power law is essentially independent of the phylogenetic tree topology, depending on just two parameters—the sequence length and the average branch length. We demonstrate that these power law tails are ubiquitous in the large protein sequence alignments used to predict contacts in 3D structure, as predicted by our theory. This suggests that to decouple phylogenetic effects from the interactions between sequence distal sites that control biological function, it is necessary to remove or down-weight the eigenvectors of the covariance matrix with largest eigenvalues. We confirm that truncating these eigenvectors improves contact prediction.
A compact dual band four element MIMO antenna for pattern diversity applications

In this paper, a dual-band four-element MIMO antenna is proposed for PCS/GSM/WLAN/LTE applications. The designed MIMO antenna comprises of L-shaped monopoles loaded with complementary split ring resonators (CSRR) for achieving dual-band antenna characteristics. Good realized gain (>3 dBi) and stable directive radiation pattern is observed in both the working bands of the proposed MIMO antenna. The proposed MIMO antenna exhibits satisfactory diversity performance, as indicated by evaluated MIMO performance metrics like envelope correlation coefficient (ECC), channel capacity loss (CCL) and total active reflection coefficient (TARC). A prototype of the proposed MIMO antenna is fabricated and tested for validation of the proposed concept.
The Impact of Rank Attack on Network Topology of Routing Protocol for Low-Power and Lossy Networks

Routing protocol for low power and lossy networks (RPL) is the underlying routing protocol of 6LoWPAN, a core communication standard for the Internet of Things. RPL outperforms other wireless sensor and ad hoc routing protocols in quality of service (QoS), device management, and energy saving performance. The Rank concept in RPL serves multiple purposes, including route optimization, prevention of loops, and managing control overhead. In this paper, we analyze several different types of internal threats that are aimed at the Rank property and study their impact on the performance of the wireless sensor network. Our analysis raises the question of an RPL weakness, which is the lack of a monitoring parent in every node. In RPL, the child node only receives the parent information through control messages, but it cannot check the services that its parent provide hence it will follow a bad quality route if it has a malicious parent. Our results show that different types of the Rank attacks can be used to intentionally downgrade specific QoS parameters. This paper also reveals that attack in a high forwarding load area will have more impact on network performance than attack in other areas. The defenders can use the knowledge of such correlation between attack location and its impact to set higher security levels at particular positions by monitoring sensitive network parameters and detecting the anomalies.
Economic Feasibility Study of an HTS DC Induction Furnace

Conventional induction furnaces have been in operation in nonferrous metal and related industries with poor energy efficiencies of only 50-60%. Moreover, the efficiency of atmosphere furnace, one of the various heating facilities for metal billets, is about 20%. For ensuring high energy efficiency in these heating furnaces fields, as one of the better counterplans, a novel dc induction heating method using HTS magnets has been suggested. To realize the HTS dc induction furnace (HIF) in the industrial field, the most important issue is to guarantee economic favor in comparison with two different types of conventional furnaces. In this paper, we performed an economic feasibility study of an HIF in terms of electricity fee minimization. Net present value, internal rate of return, and pay-back period methods were used to evaluate the investment returns of an HIF. All indicators related to direct benefits were calculated and analyzed for finding economic feasibility. The analysis results will be applied to decision making process for the commercialization of the HIF.
Post-hoc principal component analysis on a largely illiterate elderly population from North-west India to identify important elements of mini-mental state examination

Background: Mini-mental state examination (MMSE) scale measures cognition using specific elements that can be isolated, defined, and subsequently measured. This study was conducted with the aim to analyze the factorial structure of MMSE in a largely, illiterate, elderly population in India and to reduce the number of variables to a few meaningful and interpretable combinations. Methodology: Principal component analysis (PCA) was performed post-hoc on the data generated by a research project conducted to estimate the prevalence of dementia in four geographically defined habitations in Himachal Pradesh state of India. Results: Questions on orientation and registration account for high percentage of cumulative variance in comparison to other questions. Discussion: The PCA conducted on the data derived from a largely, illiterate population reveals that the most important components to consider for the estimation of cognitive impairment in illiterate Indian population are temporal orientation, spatial orientation, and immediate memory.
Stress Testing Household Debt

We estimate a county-level model of household delinquency and use it to conduct "stress tests" of household debt. Applying house price and unemployment rate shocks from Comprehensive Capital Analysis Review (CCAR) stress tests, we find that forecasted delinquency rates for the recent stock of debt are moderately lower than for the stock of debt before the 2007-09 financial crisis, given the same set of shocks. This decline in expected delinquency rates under stress reflects an improvement in debt-to-income ratios and an increase in the share of debt held by borrowers with relatively high credit scores. Under an alternative scenario where the size of house price shocks depends on housing valuations, we forecast a much lower delinquency rate than occurred during the crisis, reflecting more reasonable housing valuations than pre-crisis. Stress tests using other scenarios for the path of house prices and unemployment also support the conclusion that household debt curren tly poses a lower risk to financial stability than before the financial crisis.
Regulation of Five Tubulin Isotypes by Thyroid Hormone During Brain Development

: Nucleic acid probes derived from the 3’noncoding region of five tubulin cDNAs were used to study the effects of thyroid hormone deficiency on the expression of the mRNAs encoding two α (α1 and α2)‐and three β (β2, β4, and β5)‐tubulin isotypes in the developing cerebral hemispheres and cerebellum. The content of α1, which markedly declines during development in both brain regions, is maintained at high levels in the hypothyroid cerebellum, whereas it is decreased in the cerebral hemispheres. The α2 level also declines during development and is decreased in both regions by thyroid hormone deficiency, but only during the two first postnatal weeks. Thyroid hormone deficiency slightly increases at all stages the β2 level in the cerebellum, whereas a decrease is observed at early stages in the cerebral hemispheres. The ft level seems to be independent of thyroid hormone in the cerebral hemispheres, whereas it decreases at early stages in the hypothyroid cerebellum. Finally, the expression of the brain‐specific β4 isotype is markedly depressed by thyroid hormone deficiency, particularly in the cerebellum. These data suggest that the genes encoding the tubulin isotypes are, directly or not, differently regulated by thyroid hormone during brain development This might contribute to abnormal neurite outgrowth seen in the hypothyroid brain and therefore to impairment in brain functions produced by thyroid hormone deficiency.
Influence of random, pile-up and scatter corrections in the quantification properties of small-animal PET scanners

The potential of PET imaging for pre-clinical studies will be fully realized only if repeatable, reliable and accurate quantitative analysis can be performed. The characteristic blurring of PET images due to positron range and non co-linearity, as well as random, pile-up and scatter contributions, that may be significant for fully 3D PET acquisitions of small animal, make it difficult their quantitative analysis. In this work specific activity versus specific counts in the image calibration curves for 3D-OSEM reconstructions from a commercially available small animal PET scanner are determined. Both linear and non-linear calibration curves are compared and the effect of corrections for random and scatter contributions are studied. To assess the improvement in the calibration procedure when scatter and random corrections are considered, actual data from a rat tumor pre- and post-cancer therapy are analyzed. The results show that correcting for random and scatter corrections can increase the sensitivity of PET images to changes in the biological response of tumors by more than 15%, compared to uncorrected reconstructions.