Miracle-dz/UniFAR-FTUs huggingface dataset:
Investigation of citrullinemia type I variants by in vitro expression studies

Mild citrullinemia is an allelic variant of classical citrullinemia type I also caused by deficiency of the urea cycle enzyme argininosuccinate synthetase (ASS). Affected patients comprise a biochemical but no clinical phenotype. However, there is no reliable parameter allowing conclusions regarding the course of the disorder or its type of manifestation. The aim of this study was to test the importance of varying levels of ASS residual activities for the severity at diagnosis. Bacterial in vitro expression studies allowed the enzymatic analysis of purified wild‐type and the mutant ASS proteins p.Ala118Thr (c.352G>A), p.Trp179Arg (c.535T>C), p.Val263Met (c.787G>A), p.Arg265Cys (c.793C>T), p.Met302Val (c.904A>G), p.Gly324Ser (c.970G>A), p.Gly362Val (c.1085G>T), and p.Gly390Arg (c.1168G>A). In the chosen system, classical mutations do not show any significant enzymatic activity, whereas mutations associated with a mild course yield significant ASS activity levels. The mutation p.Ala118Thr (c.352G>A) impresses by a high residual activity (62%) but a severe reduction of affinity toward the substrates citrulline and aspartate. This mutation was identified in a hitherto healthy female adult with no history of known citrullinemia who had died during the postpartum period from hyperammonemic coma. The results of this study suggest that even a high level of residual ASS activity is not a reliable prognostic marker for an uneventful clinical course. Determination of ASS residual activities, therefore, cannot help in anticipating the risk of metabolic derangement. This study should guide clinicians as well as patients with mild citrullinemia toward a lifelong awareness of the disorder. Hum Mutat 0,1–6, 2008. © 2008 Wiley‐Liss, Inc.
Density Estimation for Geolocation via Convolutional Mixture Density Network

Nowadays, geographic information related to Twitter is crucially important for fine-grained applications. However, the amount of geographic information avail- able on Twitter is low, which makes the pursuit of many applications challenging. Under such circumstances, estimating the location of a tweet is an important goal of the study. Unlike most previous studies that estimate the pre-defined district as the classification task, this study employs a probability distribution to represent richer information of the tweet, not only the location but also its ambiguity. To realize this modeling, we propose the convolutional mixture density network (CMDN), which uses text data to estimate the mixture model parameters. Experimentally obtained results reveal that CMDN achieved the highest prediction performance among the method for predicting the exact coordinates. It also provides a quantitative representation of the location ambiguity for each tweet that properly works for extracting the reliable location estimations.
CHSMST+: An Algorithm for Spatial Clustering

Spatial clustering has been widely studied due to its application in several areas. However, the algorithms of such technique still need to overcome several challenges to achieve satisfactory results on a timely basis. This work presents an algorithm for spatial clustering based on CHSMST, which allows: data clustering considering both distance and similarity, enabling to correlate spatial and nonspatial data, user interaction is not necessary, and use of multithreading technique to improve the performance. The algorithm was tested ia a real database of health area.
Locating and reducing translation difficulty

The challenge of translation varies from one sentence to another, or even between phrases of a sentence. We investigate whether variations in difficulty can be located automatically for Statistical Machine Translation (SMT). Furthermore, we hypothesize that customization of a SMT system based on difficulty information, improves the translation quality. We assume a binary categorization for phrases: easy vs. difficult. Our focus is on the Difficult to Translate Phrases (DTPs). Our experiments show that for a sentence, improving the translation of the DTP improves the translation of the surrounding non-difficult phrases too. To locate the most difficult phrase of each sentence, we use machine learning and construct a difficulty classifier. To improve the translation of DTPs, we introduce customization methods for three components of the SMT system: (I) language model; (II) translation model; (III) decoding weights. With each method, we construct a new component that is dedicated for the translation of difficult phrases. Our experiments on Arabic-to-English translation show that DTP-specific system customization is mostly successful. Overall, we demonstrate that translation difficulty is an important source of information for machine translation and can be used to enhance its performance.
Update on medical overuse.

IMPORTANCE Overuse of medical care, consisting primarily of overdiagnosis and overtreatment, is a common clinical problem. OBJECTIVE To identify and highlight the most significant clinical articles published in 2013 related to medical overuse. EVIDENCE REVIEW A systematic review of English-language articles published in 2013 that related to medical overuse in adults. FINDINGS We reviewed 478 published articles that met our inclusion criteria. Of these, 126 were ranked most relevant based on quality of methodology, strength of results, potential effects on patient care, and the number of patients potentially affected. The 10 most relevant articles were selected using the same criteria. These 10 articles (organized into the categories overdiagnosis, overtreatment, and methods to avoid overuse) were reviewed and interpreted for their effect on clinical medicine. CONCLUSIONS AND RELEVANCE The literature on overuse of medical care is rapidly expanding. In 2013, both clinical trials and observational studies highlighted frequently overused or unnecessary care. Overuse of testing causes false-positive results and overdiagnosis. Negative test results do not appear to genuinely reassure patients. Overtreatment, with both medical therapies and procedural interventions, places patients at risk of unnecessary adverse events.
Premotor neurons B51 and B52 in the buccal ganglia of Aplysia californica: synaptic connections, effects on ongoing motor rhythms, and peptide modulation.

1. Two buccal ganglia interneurons, labeled here as B51 and B52, have been identified on the basis of morphological and physiological criteria. 2. These neurons have multipolar cell bodies. B51 extends a major neurite, which arborizes in the neuropil ipsilateral to the soma; extends into the buccal commissure, where it branches profusely; and projects an axon out the radular nerve (n1); other processes emanating from the soma arborize in the adjacent cell body layer. B52 arborizes ipsilateral to its cell body and sends a major process out of the ipsilateral hemiganglion into the sheath that attaches the buccal ganglia to the buccal mass proper. Here the B52 axon projects through a previously undescribed structure, which forms an arch over the buccal commissure that we designate the commissural arch. The extraganglionic B52 axon sends several branches into the connective tissue and then returns to the contralateral hemiganglion, where it again branches. 3. Each neuron exhibits a unique set of physiological properties. B51 frequently produces plateau potentials, which persist and are even enhanced in solutions where Ca2+ is replaced with Co2+. On the other hand, B52 shows a powerful posthyperpolarization rebound that contributes to its burst formation during spontaneous and nerve-elicited cyclic motor output. 4. B51 and B52 display distinctive rhythmic bursting on stimulation of the radular nerve or esophageal nerve. Their burst-firing tended to occur at certain phase relationships with respect to firing in other buccal premotor and motor neurons. 5. When firing frequency is measured as a function of intracellularly injected current, B51 shows a steplike increase in firing with increasing current, whereas B52 firing frequency is continuously graded. 6. B51 and B52 were found to make extensive synaptic connections within the buccal ganglia. B51 exhibited primarily excitatory electrical connections with known premotor and motor neurons, including an electrotonic synapse with its contralateral homologue. 7. In contrast, B52 made bilateral inhibitory synapses with nearly all of the premotor and motor neurons of the ventral motor cluster. Most of these connections appeared to be monosynaptic, producing synaptic potentials with short and fixed latencies that persisted when the ganglia were bathed in solutions containing elevated concentrations of Ca2+ and Mg2+. 8. Other synaptic potentials produced by B52 were more variable in size and latency; these included slow inhibition of the B4 and B5 neurons and excitation of an identifiable neuron that projected out the radular nerve. (ABSTRACT TRUNCATED AT 400 WORDS)
Pre-B-cell colony-enhancing factor, a novel cytokine of human fetal membranes.

OBJECTIVE Our purpose was to determine whether pre-B-cell colony-enhancing factor (PBEF) is expressed in the human fetal membranes during normal gestation and parturition in the absence of infection and to show its effects on the expression of interleukin (IL)-6 and IL-8. STUDY DESIGN PBEF was immunolocalized in the fetal membranes from early pregnancy, at preterm, and at term. Its expression was quantitated by Northern analysis in separated uninfected amnion, chorion, decidua, and placenta of patients at term before labor and in full-thickness membranes before and after spontaneous labor at preterm and at term. Amnion-like epithelial (WISH) cells and fetal membrane explants were treated with recombinant PBEF (rhPBEF), and the expression of IL-6 and IL-8 was quantitated. RESULTS PBEF was immunolocalized throughout gestation in the amniotic epithelium and mesenchymal cells as well as the chorionic cytotrophoblast and parietal decidua. Northern analysis showed significantly more (P <.01) PBEF expressed in the amnion than in either chorion or placenta. Its expression increased after labor at both preterm and term and correlated with that of IL-8 (r = 0.87). rhPBEF treatment of WISH cells significantly increased IL-6 (P <.05) and IL-8 (P <.01) gene expression after 4 hours and of IL-8 protein after 24 hours (P <.01); similar 4-hour treatment of fetal membrane explants significantly increased IL-6 (P <.01) and IL-8 (P <.05) gene expression. CONCLUSION PBEF is a novel cytokine constitutively expressed by the fetal membranes during pregnancy. It increased the expression of IL-6 and IL-8 and may be important in both normal spontaneous labor and infection-induced preterm labor.
Prevention and treatment of acute radiation dermatitis: a literature review.

PURPOSE/OBJECTIVES To review historical and current research data on prevention and treatment of acute radiation dermatitis. DATA SOURCES 18 research trials and 1 case report published from 1967-2001 and 1 unpublished research trial from 1972. DATA SYNTHESIS Washing the skin with mild soap and water and the hair with mild shampoo is safe during radiation therapy. Biafine (Medix Pharmaceuticals, Inc., Largo, FL), chamomile cream, almond ointment, topical vitamin C, and gentian violet have not been proven effective and should not be used. Transparent, hydrocolloid, and hydrogel dressings have been beneficial, as have sucralfate cream and corticosteroid cream. Aloe vera may be beneficial and is not harmful. CONCLUSIONS The existing scientific data are lacking in quantity and quality. The current body of evidence is unable to provide clinicians with comprehensive guidelines for prevention and management of acute radiation dermatitis. IMPLICATIONS FOR NURSING Nurse clinicians and nurse scientists must partner to conduct further research to add to the limited resources about the prevention and management of acute radiation dermatitis and develop comprehensive evidence-based clinical practice guidelines.
Antifungal prophylaxis in pediatric hematology/oncology: New choices & new data

A severe complication of the treatment of pediatric cancers is the development of an invasive fungal infection (IFI). The data to support antifungal prophylaxis in pediatric oncology patients derive primarily from adult patients, and thus the optimal agent to utilize is not clear. Fluconazole has been a standard option, but agents with antimold activity are now available, each with limitations. Pediatric dosing for voriconazole and posaconazole is uncertain and multiple drug interactions exist. The echinocandins are well‐tolerated, but only available in intravenous form. Ultimately, studies demonstrating biologic risk factors for the development of IFI may lead to personalized prophylactic strategies. Pediatr Blood Cancer 2012; 59: 21–26. © 2011 Wiley Periodicals, Inc.
Birth outcomes in women with eating disorders in the Norwegian Mother and Child cohort study (MoBa).

OBJECTIVE We explored the impact of eating disorders on birth outcomes in the Norwegian Mother and Child Cohort Study. METHOD Of 35,929 pregnant women, 35 reported broad anorexia nervosa (AN), 304 bulimia nervosa (BN), 1,812 binge eating disorder (BED), and 36 EDNOS-purging type (EDNOS-P) in the six months before or during pregnancy. The referent comprised 33,742 women with no eating disorder. RESULTS Pre-pregnancy body mass index (BMI) was lower in AN and higher in BED than the referent. AN, BN, and BED mothers reported greater gestational weight gain, and smoking was elevated in all eating disorder groups. BED mothers had higher birth weight babies, lower risk of small for gestational age, and higher risk of large for gestational age and cesarean section than the referent. Pre-pregnancy BMI and gestational weight gain attenuated the effects. CONCLUSION BED influences birth outcomes either directly or via higher maternal weight and gestational weight gain. The absence of differences in AN and EDNOS-P may reflect small numbers and lesser severity in population samples. Adequate gestational weight gain in AN may mitigate against adverse birth outcomes. Detecting eating disorders in pregnancy could identify modifiable factors (e.g., high gestational weight gain, binge eating, and smoking) that influence birth outcomes.
Battery integration with more electric aircraft DC distribution network using phase shifted high power bidirectional DC-DC converter

Competition in the aircraft industry market and global warming has driven the industry to think along economic and environmental lines. This has resulted in the emergence of More Electric Aircraft (MEA). A new DC standards for power distribution has been obtained with 270 V DC on board of MEA. Because of its high electric power demand MEA requires high energy density batteries and DC-DC converter system. The DC-DC converter functions as a charger for batteries. The features like high performance and galvanic isolation make the phase shifted bidirectional DC-DC converter (also known as Dual Active Bridge) a strong candidates amongst the available DC-DC converters. In this paper, authors have integrated a high energy density Li-ion battery system with power distribution DC bus using phase shifted high power bidirectional (PSHPB) DC-DC converter and proposed a simple dynamic duty cycle control (DDCC) algorithm for its operation under dynamic conditions. The full system is verified under different dynamic conditions with variations in output current (load) and input voltage (line). The modeling has been done in MATLAB® Simulink environment, and simulation results are presented and discussed in the paper.
Internal solitons in the sea: Experimental data

Results of two comprehensive internal wave experiments carried out at the shelf edge in the mid-atlantic bight (JUSREX-92 and SWARM-95) are analyzed. Evidence of soliton features of the observed intense internal waves are discussed with special attention to the propagation speed and amplitude dispersion of solitons. A method for estimation of phase velocity of internal waves by analysis of time/depth variations of three current velocity components is proposed. Specific distortion of the orbital velocity field in internal waves propagating against the background shear current is discussed (ldquoshear contaminationrdquo effect).
Predictors of BMI Vary along the BMI Range of German Adults - Results of the German National Nutrition Survey II

Objective: The objective of the study was to identify predictors of BMI in German adults by considering the BMI distribution and to determine whether the association between BMI and its predictors varies along the BMI distribution. Methods: The sample included 9,214 adults aged 18-80 years from the German National Nutrition Survey II (NVS II). Quantile regression analyses were conducted to examine the association between BMI and the following predictors: age, sports activities, socio-economic status (SES), healthy eating index-NVS II (HEI-NVS II), dietary knowledge, sleeping duration and energy intake as well as status of smoking, partner relationship and self-reported health. Results: Age, SES, self-reported health status, sports activities and energy intake were the strongest predictors of BMI. The important outcome of this study is that the association between BMI and its predictors varies along the BMI distribution. Especially, energy intake, health status and SES were marginally associated with BMI in normal-weight subjects; this relationships became stronger in the range of overweight, and were strongest in the range of obesity. Conclusions: Predictors of BMI and the strength of these associations vary across the BMI distribution in German adults. Consequently, to identify predictors of BMI, the entire BMI distribution should be considered.
A NEW SCORING SYSTEM BASED ON THE HISTOLOGICAL BEHAVIOR AND PROLIFERATIVE ACTIVITY OF TUMOR CELLS FOR GRADING THE MALIGNANT POTENTIAL OF BLADDER CANCERS

Urothelial cancer can be considered to consist of a spectrum of diseases with diverse natural histories and the conventional morphological classifications provided by classical histology remain the basis for any decision‐making process. The proliferative rate of the tumor cells may be significant since the rate of DNA synthesis is directly related to the rate of tumor growth or tumor involvement. We have previously reported that flow cytometric deoxyribonucleic acid (DNA)/bromodeoxyuridine (BrdU) bivariate analysis can provide important information about the malignant potential of bladder cancer. In the present study, we have formulated a new system based on the histological grade and tumor proliferative activity determined by the BrdU labeling index. An attempt has been made, moreover, to investigate whether this grading system can be used to determine the malignant potential of bladder cancers. A total of 86 patients with bladder tumors, histologically proven to be transitional cell carcinomas, were analyzed. Immediately after removal of tumor specimens, in vitro BrdU labeling was performed. Multivariate survival analysis was conducted using Cox's regression model, followed by estimation of the risk ratio for survival. Based on the risk ratio of the histological grade and the BrdU labeling index, a score ranging from 1 to 52 was assigned to each tumor. Forty‐four patients with a score of 1 had a 100% survival rate at 3 years, compared with 42.9% for patients having a score greater than 1. Conversely, 26 patients with the highest score, 52 exhibited a survival rate of only 17.3% at 3 years. These results suggest that the new grading system can be used as an indicator for making decisions about treatment in cases of transitional cell carcinoma of the bladder.
Multiple emulsions.

The purpose of this review is to update the information on multiple emulsions known to be promising delivery systems for both pharmaceuticals and cosmetic materials. The possibility of encapsulating active substances within liquid membranes may lead to interesting opportunities in both fields. Thus the formulation, manufacturing, stabilization, analysis and potential application of multiple emulsions seems to be worth surveying, putting a special emphasis on cosmetic applications.
Gene expression profiling of experimental saccular aneurysms using deoxyribonucleic acid microarrays

Intracaranial aneurysm is described as cerebrovascular disorder which causes the localized dilation of blood vessel in brain. Recent studies have shown that it is multifactorial disorder which involve more than one risk factor resulting in the damage of blood vessel. Various studies including microarray have reported reliable feedback for detecting the role of different genes in aneurysm. In current study authors use microarray chip technology to analyse multiple gene expression at two different time points in rabbits.
Bioelectrical impedance analysis as a predictor of survival in patients with human immunodeficiency virus infection.

In patients with AIDS, short-term survival has been related to body weight, body composition, and serum nutritional parameters, but their prognostic impact at earlier stages of the HIV infection is not known. With an individual follow-up period of 1,000 days, we investigated the prognostic relevance of electrical tissue conductivity [resistance R, reactance Xc, phase angle alpha, extracellular mass (ECM), body cell mass (BCM)] measured by bioelectrical impedance analysis, of the CD4+ cell count, and of serum parameters indicating malnutrition in 75 HIV-infected male patients at Walter Reed stages 3-5. After initial recording, 29 patients (38.7%) died from AIDS during this period. Among 12 parameters estimated with a semiparametric Cox regression model adjusted for therapy (pentamidine, azidothymidine), the phase angle alpha (parameter estimate: -1.043, 95% confidence interval of -0.61 to -1.47; p < or = 0.0001), the ECM/BCM ratio, Xc, BCM, serum cholesterol, number of CD4+ cells, and serum albumin had significant prognostic influence on survival, whereas age, body weight, body mass index, resistance, serum protein, and serum triglycerides did not. In a model with four covariates (CD4+ cells, phase angle, pentamidine, azidothymidine), the prognostic impact of the CD4+ cell count (parameter estimate: -0.549) was lower compared with the phase angle alpha (parameter estimate: -0.799; p < or = 0.0001) and did not gain statistical significance (p = 0.0626). The phase angle alpha was the best single predictive factor for survival among all 12 parameters (comparison of the respective Cox models with the likelihood ratio test). (ABSTRACT TRUNCATED AT 250 WORDS)
Characterization of a fiber-optical parametric amplifier in a 5 × 28-GBd 16-QAM DWDM system

The performance of a FOPA as inline-amplifier for 28-GBd 16-QAM signals at 20-dB gain in a 50-GHz 5-channel DWDM system is experimentally investigated. Less than 0.7-dB OSNR penalty at a BER of 1×10-3 was measured with 0-dBm per-channel output power.