Miracle-dz/UniFAR-FTUs huggingface dataset:
The scleroatrophic syndrome of Huriez

We have examined 14 of 28 members of a four‐generation family. 10 of whom demonstrated the clinical features of the scleroatrophic syndrome of Huriez, a cancer‐prone dermatosis. Several members of this family demonstrated additional features, previously unrecorded in this syndrome, including poikiloderma‐like changes on the nose, flexion contractures of the little finger, a distinctive little finger nodule, and telangiectasia on the lips. Genetic linkage was excluded to distal chromosome 4q (LOD score ‐ 4.399 at θ= 0.001). This concurs with the recent reappraisal study of one of the two original families described by Huriez, in which no evidence of linkage between this syndrome and the MNSs erythrocytic system (mapped to 4q28‐q31) was found. This is the first report of a family from the U.K. with this syndrome.
Minimizing photodiode nonlinearities by compensating voltage-dependent responsivity effects

Two voltage-dependant responsivity effects, impact ionization and Franz-Keldysh oscillations, are shown to have opposing effects at certain wavelengths in p-i-n photodiodes. It is shown that these two effects can compensate each other and minimize photodiode nonlinearities when optimized with respect to wavelength and bias voltage.
Visual acuity with computer simulated and lens-induced astigmatism

The relationship between spherical and astigmatic refractive errors and their associated visual acuity is investigated in this work by means of two different approaches. In the first one, different refractive errors were induced in normal subjects by trial lenses. In the second one, defocused images were simulated numerically by the optical transfer function of a model eye and then judged by the same subjects. The amount of defocus (measured in terms of the modulus of the dioptric power vector) necessary to reduce the visual acuity to 0.1 logMAR and to 0.4 logMAR was computed with each method and then compared. We found that the visual system is clearly more tolerant to lens-induced defocus than for the computer simulated one. However, no significant differences in visual acuity were found for astigmatism of the same power but different axes in each method.
A bi-level neural-based fuzzy classification approach for credit scoring problems

The credit scoring is a risk evaluation task considered as a critical decision for financial institutions in order to avoid wrong decision that may result in huge amount of losses. Classification models are one of the most widely used groups of data mining approaches that greatly help decision makers and managers to reduce their credit risk of granting credits to customers instead of intuitive experience or portfolio management. Accuracy is one of the most important criteria in order to choose a credit-scoring model; and hence, the researches directed at improving upon the effectiveness of credit scoring models have never been stopped. In this article, a hybrid binary classification model, namely FMLP, is proposed for credit scoring, based on the basic concepts of fuzzy logic and artificial neural networks (ANNs). In the proposed model, instead of crisp weights and biases, used in traditional multilayer perceptrons (MLPs), fuzzy numbers are used in order to better model of the uncertainties and complexities in financial data sets. Empirical results of three well-known benchmark credit data sets indicate that hybrid proposed model outperforms its component and also other those classification models such as support vector machines (SVMs), K-nearest neighbor (KNN), quadratic discriminant analysis (QDA), and linear discriminant analysis (LDA). Therefore, it can be concluded that the proposed model can be an appropriate alternative tool for financial binary classification problems, especially in high uncertainty conditions. © 2013 Wiley Periodicals, Inc. Complexity 18: 46–57, 2013
Parental academic involvement in adolescence, academic achievement over the life course and allostatic load in middle age: a prospective population-based cohort study

Background Parental involvement in their children's studies, particularly in terms of academic socialisation, has been shown to predict academic achievement, and is thus a candidate modifiable factor influencing life course socioeconomic circumstances. Socioeconomic disadvantage is thought to impact on health over the life course partly by allostatic load, that is, cumulative biological risk. We sought to elucidate the role of parental involvement at age 16 on the life course development of allostatic load. Methods In a population-based cohort (365 women and 352 men, 67% of the eligible participants), we examined the association between parental involvement in their offspring's studies, measured by teacher and pupil ratings at age 16 and an allostatic load index summarising 12 physiological risk markers at age 43. Mediation through life course academic and occupational achievement was assessed by entering school grades, adult educational achievement and socioeconomic position at age 43 in a linear regression analysis in a stepwise manner and testing for mediation. Results Parental interest in their offspring's studies during the last year of compulsory school—rather than the parent's social class or availability of practical academic support—was found to predict adult allostatic load (β=−0.12, 95% CI −0.20 to −0.05). Further adjustments indicated that academic achievement over the life course mediated a large part of the effect of parental interest on allostatic load. Conclusions Parental interest in their offspring's studies may have protective effects by decreasing the likelihood of a chain of risk involving low academic achievement, low socioeconomic position and high accumulated physiological stress.
Overlapping and distinct roles of the duplicated yeast transcription factors Ace2p and Swi5p

The yeast transcription factors Ace2p and Swi5p regulate the expression of several target genes involved in mating type switching, exit from mitosis and cell wall function. We describe the analysis of 12 novel targets, some regulated by Ace2p or Swi5p alone and some by both. We show that Ace2p is the major regulator of four genes (CTS1, YHR143W, SCW11 and YER124C). Expression of all four is inhibited by Swi5p. Like Cts1p and Scw11p, the two new Ace2p targets are associated with cell wall metabolism. Yhr143p is localized to the cell wall, and deletion affects cell separation and enhances pseudohyphal growth. Deleting YER124C also affects cell separation and sensitivity to drugs targeted against the cell wall. Expression of PIR1, YPL158C and YNL046W is dependent on Swi5p alone. In contrast, expression of YBR158W, YNL078W and YOR264W is minimized when both ace2 and swi5 are disrupted. We propose that, although Ace2p and Swi5p co‐operate to induce the expression of a subset of genes, some functional divergence has occurred. This results in a delay in the expression of those genes predominantly regulated by Ace2p, compared with those predominantly regulated by Swi5p.
Stem Cell Factor (SCF) Concentrations in Peritoneal Fluid of Women with or without Endometriosis

PROBLEM: In the quest for possible involvement of stem cell factor (SCF), a cytokine known to have multiple effects, in the pathogenesis of endometriosis, we evaluated concentrations of SCF in peritoneal fluid (PF) of women with or without endometriosis. METHOD OF STUDY: SCF concentrations in PF collected from women undergoing laparoscopy were measured, using a specific enzyme‐linked immunosorbent assay (ELISA). Reverse transcription‐polymerase chain reaction (RT‐PCR) analysis to detect gene expression of c‐kit, the receptor for SCF, was performed using the endometriotic tissue and the eutopic endometrium collected during the operation. RESULTS: SCF concentrations in PF of women with endometriosis were significantly higher compared to women without endometriosis. Looking at SCF concentrations in PF of women with endometriosis stratified by disease stage, women with stage I and II exhibited relatively higher SCF levels in PF, whereas SCF levels in PF with stage III and IV were comparable with those without endometriosis. The expression of mRNA for c‐kit was detected in both the endometriotic tissue and the eutopic endometrium. CONCLUSION: We demonstrated an elevation in SCF levels in PF associated with endometriosis and the presence of its receptor in endometriotic tissues. Given the known pleiotropic properties of SCF, the present results suggest that SCF might play a role in the pathogenesis of endometriosis.
Catalytic and Molecular Properties of Rabbit Liver Carboxylesterase Acting on 1,8-Cineole Derivatives

Rabbit liver carboxylesterase (rCE) was evaluated as the catalyst for the enantioselective hydrolysis of (±)-3-endo-acetyloxy-1,8-cineole [(±)-4], which yields (1S,3S,4R)-(+)-3-acetyloxy-1,8-cineole [(+)-4] and (1R,3R,4S)-(-)-3-hydroxy-1,8-cineole [(-)-3]. Enantioselective asymmetrization of meso-3,5-diacetoxy-1,8-cineol (5) gives (1S,3S,4R,5R)-(-)-3-acetyloxy-5-hydroxy-1,8-cineole (6), with high enantioselectivity. rCE has been chosen to perform both experiments and molecular modeling simulations. Docking simulations combined with molecular dynamics calculations were used to study rCE-catalyzed enantioselective hydrolysis of cineol derivatives. Both compounds were found to bind with their acetyl groups stabilized by hydrogen bond interactions between their oxygen atoms and Ser221.
Sharp detection in PCA under correlations: all eigenvalues matter

Principal component analysis (PCA) is a widely used method for dimension reduction. In high dimensional data, the "signal" eigenvalues corresponding to weak principal components (PCs) do not necessarily separate from the bulk of the "noise" eigenvalues. Therefore, popular tests based on the largest eigenvalue have little power to detect weak PCs. In the special case of the spiked model, certain tests asymptotically equivalent to linear spectral statistics (LSS)---averaging effects over all eigenvalues---were recently shown to achieve some power. We consider a nonparametric, non-Gaussian generalization of the spiked model to the setting of Marchenko and Pastur (1967). This allows a general bulk of the noise eigenvalues, accomodating correlated variables even under the null hypothesis of no significant PCs. We develop new tests based on LSS to detect weak PCs in this model. We show using the CLT for LSS that the optimal LSS satisfy a Fredholm integral equation of the first kind. We develop algorithms to solve it, building on our recent method for computing the limit empirical spectrum. In contrast to the standard spiked model, we find that under "widely spread" null eigenvalue distributions, the new tests have a lot of power.
Impact and Cost-Effectiveness of Point-Of-Care CD4 Testing on the HIV Epidemic in South Africa

Rapid diagnostic tools have been shown to improve linkage of patients to care. In the context of infectious diseases, assessing the impact and cost-effectiveness of such tools at the population level, accounting for both direct and indirect effects, is key to informing adoption of these tools. Point-of-care (POC) CD4 testing has been shown to be highly effective in increasing the proportion of HIV positive patients who initiate ART. We assess the impact and cost-effectiveness of introducing POC CD4 testing at the population level in South Africa in a range of care contexts, using a dynamic compartmental model of HIV transmission, calibrated to the South African HIV epidemic. We performed a meta-analysis to quantify the differences between POC and laboratory CD4 testing on the proportion linking to care following CD4 testing. Cumulative infections averted and incremental cost-effectiveness ratios (ICERs) were estimated over one and three years. We estimated that POC CD4 testing introduced in the current South African care context can prevent 1.7% (95% CI: 0.4% - 4.3%) of new HIV infections over 1 year. In that context, POC CD4 testing was cost-effective 99.8% of the time after 1 year with a median estimated ICER of US$4,468/DALY averted. In healthcare contexts with expanded HIV testing and improved retention in care, POC CD4 testing only became cost-effective after 3 years. The results were similar when, in addition, ART was offered irrespective of CD4 count, and CD4 testing was used for clinical assessment. Our findings suggest that even if ART is expanded to all HIV positive individuals and HIV testing efforts are increased in the near future, POC CD4 testing is a cost-effective tool, even within a short time horizon. Our study also illustrates the importance of evaluating the potential impact of such diagnostic technologies at the population level, so that indirect benefits and costs can be incorporated into estimations of cost-effectiveness.
2.9 Å crystal structure of ligand‐free tryptophanyl‐tRNA synthetase: Domain movements fragment the adenine nucleotide binding site

The crystal structure of ligand‐free tryptophanyl‐tRNA synthetase (TrpRS) was solved at 2.9 Å using a combination of molecular replacement and maximum‐entropy map/phase improvement. The dimeric structure (R = 23.7, Rfree = 26.2) is asymmetric, unlike that of the TrpRS tryptophanyl‐5′AMP complex (TAM; Doublie S, Bricogne G, Gilmore CJ, Carter CW Jr, 1995, Structure 3:17–31). In agreement with small‐angle solution X‐ray scattering experiments, unliganded TrpRS has a conformation in which both monomers open, leaving only the tryptophan‐binding regions of their active sites intact. The amino terminal αA‐helix, TIGN, and KMSKS signature sequences, and the distal helical domain rotate as a single rigid body away from the dinucleotide‐binding fold domain, opening the AMP binding site, seen in the TAM complex, into two halves. Comparison of side‐chain packing in ligand‐free TrpRS and the TAM complex, using identification of nonpolar nuclei (Ilyin VA, 1994, Protein Eng 7:1189–1195), shows that significant repacking occurs between three relatively stable core regions, one of which acts as a bearing between the other two. These domain rearrangements provide a new structural paradigm that is consistent in detail with the“induced‐fit” mechanism proposed for TyrRS by Fersht et al. (Fersht AR, Knill‐Jones JW, Beduelle H, Winter G, 1988, Biochemistry 27:1581–1587). Coupling of ATP binding determinants associated with the two catalytic signature sequences to the helical domain containing the presumptive anticodon‐binding site provides a mechanism to coordinate active‐site chemistry with relocation of the major tRNA binding determinants.
Derivatives of CCK-(26-32) as cholecystokinin receptor antagonists in guinea pig pancreatic acini.

In the present study we synthesized cholecystokinin-(26-32)-amide [CCK-(26-32)-NH2], N-acetyl-cholecystokinin-(26-32) [Ac-CCK-(26-32)], and N-acetyl-cholecystokinin-(26-32)-amide [Ac-CCK-(26-32)-NH2]. None of these peptides altered amylase secretion from dispersed acini prepared from guinea pig pancreas, but each peptide inhibited the stimulation of amylase secretion caused by the C-terminal octapeptide of cholecystokinin [CCK-(26-33)]. Half-maximal inhibition of CCK-(26-33)-stimulated amylase secretion occurred with 10 microM CCK-(26-32)-NH2, with 25 microM Ac-CCK-(26-32)-NH2, and with 100 microM Ac-CCK-(26-32). Ac-CCK-(26-32) caused a parallel rightward shift in the dose-response curve for CCK-(26-33)-stimulated amylase secretion. Ac-CCK-(26-32)-NH2 inhibited the stimulation of amylase secretion caused by CCK-(26-33), caerulein, or gastrin-(2-17) but did not alter the stimulation caused by carbachol, bombesin, physalaemin, A23187, vasoactive intestinal peptide, secretin, or 8-bromoadenosine 3',5'-cyclic monophosphate. There was a close correlation between the abilities of derivatives of CCK-(26-32) to inhibit binding of 125I-cholecystokinin (125I-CCK) to pancreatic acini and their abilities to inhibit the stimulation of amylase secretion caused by CCK-(26-33). Half-maximal inhibition of binding of 125I-CCK occurred with 5 microM CCK-(26-32)-NH2, with 7 microM Ac-CCK-(26-32)-NH2, and with 70 microM Ac-CCK-(26-32). These findings indicate that each of the three derivatives of CCK-(26-32) is a specific competitive antagonist of the interaction of cholecystokinin with its cell surface receptors on pancreatic acini. (ABSTRACT TRUNCATED AT 250 WORDS)
Autologous stem cell transplantation: exogenous granulocyte colony-stimulating factor or granulocyte-macrophage colony-stimulating factor modulate the endogenous cytokine levels.

To the Editor: Autologous bone marrow (BM) and peripheral blood (PB) stem cell transplantation (SCT) is widely used in a variety of hematological malignancies and solid tumors. [1][1] After high-dose conditioning therapy,[2][2] the recovery of hematopoiesis is dependent on stem cell self-renewal and
The effect of live measles vaccines on serum vitamin A levels in healthy children

Abstract Objective: Serum retinol levels have been shown to be depressed during measles infection. This study aims to demonstrate whether there is any decrease in serum vitamin A level following immunization with live viral vaccine and its relation with vaccine seroconversion in children with measles. Since many children receive measles vaccine alone or in combination with measles‐mumps‐rubella vaccine, we studied serum vitamin A levels and antibody levels in healthy, well‐nourished children before and after immunization with monovalent and combined live attenuated measles vaccine.
A priority based admission control strategy for WCDMA systems

Future wireless systems need higher support in terms of QoS support. In particular, when several connections with different QoS attributes are allowed, a prioritization system has to be foreseen. In UMTS and other systems that exploit the WCDMA approach, the problem of mitigating multiple access interference arises, too. Admission control algorithms have been introduced in the literature in order to prevent any congestion status in the network. An admission control algorithm that works by exploiting the current interference level is presented; moreover, each type of traffic is managed in order to respect its QoS in terms of priority.
Electric power use and breast cancer: a hypothesis.

It is the purpose of this paper to present the hypothesis that use of electric power may increase risk of breast cancer. The hypothesis is based on experimental evidence that shows an effect of light and extremely low frequency electric and/or magnetic (ELF) fields on pineal melatonin production, and on the relationship of melatonin to mammary carcinogenesis. A brief discussion of the epidemiology of breast cancer will be followed by a description of the experimental foundation for the hypothesis. 20 references, 1 figure.
Intervention Reducing the Racial Achievement Gap : A Social-Psychological

, 1307 (2006); 313 Science et al. Geoffrey L. Cohen Intervention Reducing the Racial Achievement Gap: A Social-Psychological This copy is for your personal, non-commercial use only. clicking here. colleagues, clients, or customers by , you can order high-quality copies for your If you wish to distribute this article to others here. following the guidelines can be obtained by Permission to republish or repurpose articles or portions of articles ): October 29, 2013 www.sciencemag. org (this information is current as of The following resources related to this article are available online at http://www.sciencemag.org/content/313/5791/1307.full.html version of this article at: including high-resolution figures, can be found in the online Updated information and services, http://www.sciencemag.org/content/suppl/2006/08/29/313.5791.1307.DC1.html can be found at: Supporting Online Material http://www.sciencemag.org/content/313/5791/1307.full.html#related found at: can be related to this article A list of selected additional articles on the Science Web sites http://www.sciencemag.org/content/313/5791/1307.full.html#ref-list-1 , 1 of which can be accessed free: cites 9 articles This article 47 article(s) on the ISI Web of Science cited by This article has been http://www.sciencemag. org/content/313/5791/1307.full. html#related-urls 38 articles hosted by HighWire Press; see: cited by This article has been http://www.sciencemag. org/cgi/collection/psychology Psychology subject collections: This article appears in the following
Use of the Stable Isotope, 58Fe, for Determining Availabilty of Nonheme Iron in Meals

ABSTRACT: Because of reluctance to use radioisotopes for studies of iron absorption in children, we have explored the feasibility of using the least abundant stable isotope of iron, 58Fe (natural abundance, 0.322 weight %) in a study of nonheme iron absorption. With a balanced cross-over design, each of 16 school-age children was fed a standardized lunch on 3 consecutive days and, 28 days later, an alternate standardized lunch on 3 consecutive days. The lunch included either a beef patty or a beef-soy patty. The mass isotope ratio, 58Fe/57Fe (MIR58/57), was measured in blood by inductively coupled plasma mass spectroscopy before and 14 days after (i.e. study day 15) consuming the three lunches. The MIR58/57 on study day 15 was used as a baseline value for lunches fed on study days 29, 30, and 31. Incorporation of 58Fe into erythrocytes was greater from the lunch with beef patty than from the lunch with beef-soy patty (geometric mean values 2.02 and 1.05% of the dose, p < 0.03). Based on the similarity of our results with those obtained in adults with radioisotopes. We conclude that 58Fe is a satisfactory tag for studies of nonheme iron absorption from meals.
Molecular genetics of Dravet syndrome

Before the advent of molecular genetics, the nature of Dravet syndrome remained largely obscure, and arguments in favour of either an acquired origin, such as the occurrence of Dravet syndrome after vaccination, or an inherited origin, such as the occurrence of epilepsy in relatives, were formulated. In 2001 we demonstrated that the majority of Dravet patients have a genetic cause due to loss‐of‐function mutations in the SCN1A gene. Understandably, since this syndrome severely affects reproductive fitness, these mutations almost exclusively arise de novo, with the rare exceptions of mosaic mutations in a non‐affected transmitting parent. Besides classical Sanger sequencing, mutation analysis of the SCN1A gene also requires a method that allows the detection of genomic rearrangements (MAQ, MLPA), since microdeletions or whole gene deletions also result in Dravet syndromes. Depending on the series reported and their recruitment strategies, the yield of SCN1A mutations detected varied from 50 to 80%, implying that other genes or factors must be involved in these ‘SCN1A‐negative Dravet patients’. Recently mutations in some other genes have been described in these genuine Dravet patients who do not carry an SCN1A mutation. The second most important Dravet‐associated gene is PCDH19.These patients initially may have all characteristics of Dravet syndrome but may later run a somewhat different course.
Acute effect of 9 -fluoroprednisolone acetate (9 FFA) on blood leukocytes and somatic cell content of milk.

Abstract Lactating Holstein cows received 0 (saline), 5, or 10 mg 9α FFA immediately following morning milking. Thereafter blood samples were collected hourly until completion of the evening milking 10 hours later. Treatment with 9α FFA resulted in a linear increase in plasma glucose during post-treatment (P 0.10). Direct microscopic measurements of somatic cell content of fore, primary and residual milk revealed no significant (P > 0.10) effect of 9α FFA on number of total somatic cells, granulocytes, agranulocytes, or epithelial cells. These results suggest that corticoid-induced leukocytosis of blood is not reflected by increased somatic cell numbers in milk.