Miracle-dz/UniFAR-FTUs huggingface dataset:
Molecular basis of Refsum disease: Sequence variations in Phytanoyl‐CoA Hydroxylase (PHYH) and the PTS2 receptor (PEX7)

Refsum disease has long been known to be an inherited disorder of lipid metabolism characterized by the accumulation of phytanic acid (3,7,11,15‐tetramethylhexadecanoic acid) caused by an α‐oxidation deficiency of this branched chain fatty acid in peroxisomes. The mechanism of phytanic acid α‐oxidation and the enzymes involved had long remained mysterious, but they have been resolved in recent years. This has led to the resolution of the molecular basis of Refsum disease. Interestingly, Refsum disease is genetically heterogeneous; two genes, PHYH (also named PAHX) and PEX7, have been identified to cause Refsum disease, as reviewed in this work. Hum Mutat 23:209‐218, 2004. © 2004 Wiley‐Liss, Inc.
Prenatal drug exposure effects on subsequent vulnerability to drug abuse

Research has shown that both prenatal alcohol and tobacco exposure are associated with increased risk of significant adverse medical, developmental, and behavioral outcomes including substance abuse. Research on the outcomes of prenatal exposure to illicit drugs (PNDE) has also found increased physical and behavioral problems for gestationally drug-exposed children. However, a clear picture has not emerged on whether the consequences of PNDE are independent from those associated with having a substance abusing parent and whether PNDE increases vulnerability to drug abuse. Because of its typical co-occurrence with factors inherent in having a drug-abusing parent, PNDE is at least a marker of significant increased risk for a range of negative outcomes including greater vulnerability to substance abuse. Although a review of the relevant research literatures indicates that the direct consequences of PNDE appear to be generally both subtle and nonglobal, PNDE does appear to have negative developmental and behavioral outcomes, and there is evidence that it is a modest direct contributor to increased substance abuse vulnerability.The viewpoints expressed in this article do not necessarily represent the National Institutes of Health or the Department of Health and Human Services. The authors thank Vincent Smeriglio for the information and suggestions he provided. The views expressed in this article do not necessarily represent his views.
Late-Onset Epileptic Spasms in Children With Pallister-Killian Syndrome: A Report of Two New Cases and Review of the Electroclinical Aspects

Pallister-Killian syndrome is a rare syndrome of multiple congenital anomalies attributable to the presence of a mosaic supernumerary isochromosome (12p). Although the clinical manifestations of Pallister-Killian syndrome are variable, the most common anomalies include craniofacial dysmorphisms, limb deformities, progressive psychomotor development delay, severe hypotonia, and epilepsy. Standard karyotype is nearly always normal, but the isochromosome (12p) is present in a high percentage of skin fibroblasts. In this article, we report the case of 2 boys with Pallister-Killian syndrome having late-onset, drug-resistant epileptic spasms. Seizures have been reported in 40% of patients with Pallister-Killian syndrome but are poorly described. Epileptic spasms are not unusual in patients with brain malformations, chromosomal aberrations, and genetic syndromes, but epileptic spasms could be easily mistaken for behavioral manifestations. A better electroclinical characterization of epileptic seizures in Pallister-Killian syndrome using appropriate polygraphic tests (video-electroencephalography, electromyography) may lead to an early diagnosis and specific treatment for this form of epileptic spasms caused by this rare syndrome.
Infection with purified Piscine orthoreovirus demonstrates a causal relationship with heart and skeletal muscle inflammation in Atlantic salmon

Viral diseases pose a significant threat to the productivity in aquaculture. Heart- and skeletal muscle inflammation (HSMI) is an emerging disease in Atlantic salmon (Salmo salar) farming. HSMI is associated with Piscine orthoreovirus (PRV) infection, but PRV is ubiquitous in farmed Atlantic salmon and thus present also in apparently healthy individuals. This has brought speculations if additional etiological factors are required, and experiments focusing on the causal relationship between PRV and HSMI are highly warranted. A major bottleneck in PRV research has been the lack of cell lines that allow propagation of the virus. To bypass this, we propagated PRV in salmon, bled the fish at the peak of the infection, and purified virus particles from blood cells. Electron microscopy, western blot and high-throughput sequencing all verified the purity of the viral particles. Purified PRV particles were inoculated into naïve Atlantic salmon. The purified virus replicated in inoculated fish, spread to naïve cohabitants, and induced histopathological changes consistent with HSMI. PRV specific staining was demonstrated in the pathological lesions. A dose-dependent response was observed; a high dose of virus gave earlier peak of the viral load and development of histopathological changes compared to a lower dose, but no difference in the severity of the disease. The experiment demonstrated that PRV can be purified from blood cells, and that PRV is the etiological agent of HSMI in Atlantic salmon.
Blockade of cholesterol absorption by ezetimibe reveals a complex homeostatic network in enterocytes[S]

Enterocyte cholesterol homeostasis reflects aggregated rates of sterol synthesis, efflux, and uptake from plasma and gut lumen. Cholesterol synthesis and LDL uptake are coordinately regulated by sterol regulatory element-binding proteins (SREBP), whereas sterol efflux is regulated by liver X receptors (LXR). How these processes are coordinately regulated in enterocytes, the site of cholesterol absorption, is not well understood. Here, we treat mice with ezetimibe to investigate the effect of blocking cholesterol absorption on intestinal SREBPs, LXRs, and their effectors. Ezetimibe increased nuclear SREBP-2 8-fold. HMG-CoA reductase (HMGR) and LDL receptor (LDLR) mRNA levels increased less than 3-fold, whereas their protein levels increased 30- and 10-fold, respectively. Expression of inducible degrader of LDLR (IDOL), an LXR-regulated gene that degrades LDLRs, was reduced 50% by ezetimibe. Coadministration of ezetimibe with the LXR agonist T0901317 abolished the reduction in IDOL and prevented the increase in LDLR protein. Ezetimibe-stimulated LDLR expression was independent of proprotein convertase subtilisin/kexin type 9 (PSCK9), a protein that degrades LDLRs. To maintain cholesterol homeostasis in the face of ezetimibe, enterocytes boost LDL uptake by increasing LDLR number, and they boost sterol synthesis by increasing HMGR and other cholesterologenic genes. These studies reveal a hitherto undescribed homeostatic network in enterocytes triggered by blockade of cholesterol absorption.
Towards optimization in digital chest radiography using Monte Carlo modelling

A Monte Carlo based computer model of the x-ray imaging system was used to investigate how various image quality parameters of interest in chest PA radiography and the effective dose E vary with tube voltage (90–150 kV), additional copper filtration (0–0.5 mm), anti-scatter method (grid ratios 8–16 and air gap lengths 20–40 cm) and patient thickness (20–28 cm) in a computed radiography (CR) system. Calculated quantities were normalized to a fixed value of air kerma (5.0 µGy) at the automatic exposure control chambers. Soft-tissue nodules were positioned at different locations in the anatomy and calcifications in the apical region. The signal-to-noise ratio, SNR, of the nodules and the nodule contrast relative to the contrast of bone (C/CB) as well as relative to the dynamic range in the image (Crel) were used as image quality measures. In all anatomical regions, except in the densest regions in the thickest patients, the air gap technique provides higher SNR and contrast ratios than the grid technique and at a lower effective dose E. Choice of tube voltage depends on whether quantum noise (SNR) or the contrast ratios are most relevant for the diagnostic task. SNR increases with decreasing tube voltage while C/CB increases with increasing tube voltage.
Three-stage inversion process for polarimetric SAR interferometry

The authors provide a new geometrical approach for the inversion of a two-layer coherent scattering model, widely used for the interpretation of polarimetric interferometric SAR data. It has been shown in several recent publications that, by using interferograms in multiple polarisation channels, estimation of vegetation height, underlying ground topography and mean extinction is possible. Furthermore, this can be achieved with a single frequency sensor without the need for a separate reference DEM, other a priori information or the use of data-specific regression formulas. The authors first review the details of this approach and then develop a three-stage inversion procedure to illustrate the steps involved in parameter estimation. They then consider several possible sources of error in the inversion. In particular, they concentrate on the effects of vertical tree structure and on the effects of temporal decorrelation on inversion accuracy. It is shown that the former leads to errors, mainly in the extinction estimation, while the latter does not change the model structure but reduces the available parameter set and increases the variance of the parameter estimates. Finally, the new algorithm is applied to simulated vector coherent SAR data for a random canopy.
Low-power current mode logic for improved DPA-resistance in embedded systems

In this work, MOS current mode logic (MCML) is analyzed for low power, low noise, mixed signal applications demanding high security such as embedded cryptographic processors and smart cards. We emphasize the possible extension of MCML gate usage for low speed applications requiring high noise immunity and having strict specifications regarding the input pattern-dependence with respect to current drawn from the power supply for better data security. A set of logic gates were realized using 0.18 /spl mu/m CMOS technology, and their performance has been compared to static CMOS gates, showing an improvement of one to two orders of magnitude.
On the Usability and Effectiveness of Different Interaction Types in Augmented Reality

One of the key challenges of augmented reality (AR) interfaces is to design effective hand-based interaction supported by computer vision. Hand-based interaction requires free-hands tracking to support user interaction in AR for which this article presents a novel approach. This approach makes it possible to compare different types of hand-based interaction in AR for navigating using a spatial user interface. Quantitative and qualitative analyses of a study with 25 subjects indicate that tangible interaction is the preferred type of interaction with which to determine the position of the user interface in AR and to physically point to a preferred option for navigation in augmented reality.
Osmotic Stress Inhibits Proteasome by p38 MAPK-dependent Phosphorylation*

Osmotic stress causes profound perturbations of cell functions. Although the adaptive responses required for cell survival upon osmotic stress are being unraveled, little is known about the effects of osmotic stress on ubiquitin-dependent proteolysis. We now report that hyperosmotic stress inhibits proteasome activity by activating p38 MAPK. Osmotic stress increased the level of polyubiquitinated proteins in the cell. The selective p38 inhibitor SB202190 decreased osmotic stress-associated accumulation of polyubiquitinated proteins, indicating that p38 MAPK plays an inhibitory role in the ubiquitin proteasome system. Activated p38 MAPK stabilized various substrates of the proteasome and increased polyubiquitinated proteins. Proteasome preparations purified from cells expressing activated p38 MAPK had substantially lower peptidase activities than control proteasome samples. Proteasome phosphorylation sites dependent on p38 were identified by measuring changes in the extent of proteasome phosphorylation in response to p38 MAPK activation. The residue Thr-273 of Rpn2 is the major phosphorylation site affected by p38 MAPK. The mutation T273A in Rpn2 blocked the proteasome inhibition that is mediated by p38 MAPK. These results suggest that p38 MAPK negatively regulates the proteasome activity by phosphorylating Thr-273 of Rpn2.
Detection of variant strains of infectious bursal disease virus in broiler flocks in Saudi Arabia using antigen capture enzyme-linked immunosorbent assay.

Infectious bursal disease conditions were observed in 15 commercial and 9 backyard broiler flocks in central area of Saudi Arabia during 2007-2008. The age of birds ranged from 2 to 8 weeks. The size of commercial flocks ranged from 5000 to 15000 birds and these flocks were vaccinated with classical strain of infectious bursal disease (IBD) vaccine at 14 days of age through drinking water. Number of birds in backyard flocks ranged from 200 to 300 and the vaccination programme of these birds was not known. High mortalities, respiratory symptoms, stunting and enlargement of bursa were seen in diseased birds of commercial flocks. Infectious bursal disease was suspected based on these clinical symptoms and postmortem findings, although these birds had been vaccinated against IBD virus. In order to confirm our diagnosis and to identify the causative agent, antigen capture-enzyme linked immunosorbent assay (ACELISA) was carried out on 142 bursal samples collected from diseased birds using kits containing monoclonal antibodies against variant strains of IBDV and 61.23% samples were found positive. It was observed that traditional vaccinal strains (54.02%) were significantly higher than less pathogenic strains not used in vaccine preparation (29.89%) and non traditional highly pathogenic strains of IBDV (16.09%). It was concluded that new variant strains of IBDV were detected in the samples in Saudi Arabia and to our knowledge this is the first report about the existence of these virus strains in commercial and backyard broiler flocks in this country.
The usefulness of large studies in psychopharmacology: understanding their strong points and their drawbacks.

Large studies have recently been reported in relation to the use of antidepressant and antipsychotic medications. They were designed to assess, in a controlled manner, the effectiveness or safety (or both) of such medications. These include the Clinical Antipsychotic Trials of Intervention Effectiveness (CATIE) Study on the use of antipsychotic drugs in schizophrenia, 1‐3 the Sequenced Treatment Alternatives to Relieve Depression (STAR*D) studies on multiple steps of antidepressant treatments, 4‐10 and the Systematic Treatment Enhancement Program for Bipolar Disorder (STEP-BD) program in bipolar illness. 11‐13 These endeavours addressed crucial issues concerning the use of psychopharmacological agents, and the results obtained are precious to the field. Certain problems, however, may stem from the interpretation of the data associated with such large bodies of work, either by the authors or by parties that can benefit from focusing on a single aspect of such studies. The following results have received the most attention from the CATIE trials: the observation that the atypical antipsychotics did not appear to provide greater effectiveness when compared with the typical antipsychotic perphenazine and that perphenazine was devoid of negative metabolic impact.
Factor VIII Inhibitor: Acquired Haemostatic Defect in a Non-Haemophiliac Patient with Rheumatoid Arthritis

H A E M 0 S TAT I C defects due to inhibitors of Factor VIII are not common, the majority of reported cases occurring in known haemophiliacs. A small number of cases have been described in previously healthy young women following pregnancy, and also in middle-aged or elderly patients of both sexes in previously good health or suffering from a variety of other conditions. Acquired inhibitors of Factor VIII in association with rheumatoid arthritis are rare; a further instance of this association and the apparent response to azathioprine is reported.
Query by Example of Speaker Audio Signals using Power Spectrum and MFCCs

Search engine is the popular term for an information retrieval (IR) system. Typically, search engine can be based on full-text indexing. Changing the presentation from the text data to multimedia data types make an information retrieval process more complex such as a retrieval of image or sounds in large databases. This paper introduces the use of language and text independent speech as input queries in a large sound database by using Speaker identification algorithm. The method consists of 2 main processing first steps, we separate vocal and non-vocal identification after that vocal be used to speaker identification for audio query by speaker voice. For the speaker identification and audio query by process, we estimate the similarity of the example signal and the samples in the queried database by calculating the Euclidian distance between the Mel frequency cepstral coefficients (MFCC) and Energy spectrum of acoustic features. The simulations show that the good performance with a sustainable computational cost and obtained the average accuracy rate more than 90%.
Mutational Analysis, Using a Full-Length Rubella Virus cDNA Clone, of Rubella Virus E1 Transmembrane and Cytoplasmic Domains Required for Virus Release

ABSTRACT We report on the construction of a full-length cDNA clone, pBRM33, derived from wild-type rubella virus M33 strain. The RNA transcripts synthesized in vitro from pBRM33 are highly infectious, and the viruses produced retain the phenotypic characteristics of the parental M33 virus in growth rate and plaque size. This cDNA clone was used to study the role of E1 transmembrane and cytoplasmic domains in virus assembly by site-directed mutagenesis. Three different alanine substitutions were introduced in the transmembrane domain of E1. These included substitution of leucine 464, cysteine 466, cysteine 467, and both cysteines 466 and 467 to alanine. In the E1 cytoplasmic domain, cysteine 470 and leucine 471 were altered to alanine. We found that these mutations did not significantly affect viral RNA replication, viral structural protein synthesis and transport, or E2/E1 heterodimer formation. Except for the substitution of cysteine 470, these mutations did, however, lead to a reduction in virus release. Substitution of cysteine 467 in the transmembrane region and of leucine 471 in the cytoplasmic domain dramatically reduced virus yield, resulting in the production of only 1 and 10% of the parental virus yield, respectively, in a parallel infection. These data show that E1 transmembrane and cytoplasmic domains play an important role in late stages of virus assembly, possibly during virus budding, consistent with earlier studies indicating that the E1 cytoplasmic domain may interact with nucleocapsids and that this interaction drives virus budding.
A New Perspective on Mental Illness: From Nigeria to SW United States

Looking at the knowledge, attitudes, and beliefs of mental health professionals, it would be expected that those with professional education would demonstrate more expertise in the pathophysiology of mental illness. It would be expected that their beliefs would be based in science and that they would be less likely to endorse negative or stigmatizing attitudes toward the mentally ill. However, in a study of doctors’ attitudes towards people with mental illness in Western Nigeria, it was found that this group espoused prevalent beliefs in supernatural causes for mental illness (Adewuya & Oguntade, 2007). The mentally ill were perceived as dangerous and their prognosis perceived as poor. Most of the medical doctors believed misuse of drugs and alcohol to be the major cause of mental illness. Since misuse of drugs and alcohol could be a related factor for a limited number of mental disorders and the misuse of substances often is viewed as a moral failing in Africa, mental illnesses were viewed as self-inflicted by the doctors and the public, and this attitude elicited condemnation rather than understanding or sympathy (Adewuya & Oguntade, 2007).
Gender Roles and Mental Health in Women With and at Risk for HIV

Predominantly low-income and African American women from the same community, HIV-infected (n = 100; HIV+) and uninfected (n = 42; HIV−), were assessed on reported gender roles in sexual and other close relationships—including levels of self-silencing, unmitigated communion, and sexual relationship power—at a single recent study visit during 2008–2012. Recent gender roles were investigated in relation to depressive symptoms and health-related quality of life assessed both at a single visit during 2008–2012 and averaged over semiannual visits (for depressive symptoms) and annual visits (for quality of life) occurring between 1994 and 2012. Compared to HIV− women, HIV+ women reported significantly higher levels of several aspects of self-silencing, unmitigated communion, and multi-year averaged depressive symptoms as well as lower levels of sexual relationship power and recent and multi-year averaged quality of life. For both HIV+ and HIV− women, higher self-silencing and unmitigated communion significantly related to recent or multi-year averaged higher depressive symptoms and lower quality of life. Intervention strategies designed to increase self-care and self-advocacy in the context of relationships could potentially minimize depressive symptoms and enhance quality of life in women with and at risk for HIV.
Subgraph Extraction and Memetic Algorithm for the Maximum Clique Problem

The maximum clique problem involves finding the largest set of pairwise adjacent vertices in a graph. The problem is classic but still attracts much attention because of its hardness and its prominent applications. Our work is based on the existence of an order on all the vertices whereby those belonging to a maximum clique stay close enough to each other. Such an order can be identified via the extraction of a particular subgraph from the original graph. The problem can consequently be seen as a permutation problem that can be addressed efficiently with an evolutionary-like algorithm, here we use a memetic algorithm (MA). Computational experiments conducted on DIMACS benchmark instances clearly show our MA which not only outperforms existing genetic approaches, but also compares very well to state-of-the-art algorithms.
Semantic Web services platform based on software agent

Semantic Web services is considered as the concept bringing the web to its full potential by combining the best features of web services, agent technology, grid and the Semantic web. In this paper we present a semantic Web Services platform based on software agent (JASW), which introduces Semantic web and software agent and takes the automated discovery, selection, orchestration and invocation of Web services as application background. In the platform, we adopt Semantic web to accurately describe Web services, and use software agent to implement discovery, selection, and orchestration of Web services.