Miracle-dz/UniFAR-FTUs huggingface dataset:
Partial pyruvate kinase deficiency aggravates the phenotypic expression of band 3 deficiency in a family with hereditary spherocytosis

In a family with mild dominant spherocytosis, affected members showed partial band 3 deficiency. The index patient showed more severe clinical symptoms than his relatives, and his red blood cells displayed concomitant low pyruvate kinase activity. We investigated the contribution of partial PK deficiency to the phenotypic expression of mutant band 3 in this family. Pyruvate kinase deficiency and band 3 deficiency were characterized by DNA analysis. Results of red cell osmotic fragility testing, the results of cell deformability obtained by the Automated Rheoscope and Cell Analyzer and the results obtained by Osmotic Gradient Ektacytometry, which is a combination of these tests, were related to the red cell ATP content. Spherocytosis in this family was due to a novel heterozygous mutation in SLC4A1, the gene for band 3. Reduced PK activity of the index patient was attributed to a novel mutation in PKLR inherited from his mother, who was without clinical symptoms. Partial PK deficiency was associated with decreased red cell ATP content and markedly increased osmotic fragility. This suggests an aggravating effect of low ATP levels on the phenotypic expression of band 3 deficiency. Am. J. Hematol. 90:E35–E39, 2015. © 2014 Wiley Periodicals, Inc.
Principal component analysis for feature extraction of image sequence

This paper presents a method to extract features by PCA (Principal component analysis) from a series of woods surfaces' images. The method introduces a principal component subspace and can reserve original information while extraction mainly information. The emulated results show that we can fuse the image series and extract features from the four images of a same surface by using this method. After processing the sequences of images, we get a feature which is good for the next classification and recognition process.
The interfacial behaviour of single poly(N,N-dimethylacrylamide) chains as a function of pH

We have studied the pH-dependent conformational behaviour of poly(N,N-dimethylacrylamide) (PDMAc) at silicon and gold surfaces using single-molecule force spectroscopy and a quartz crystal microbalance (QCM). Despite the pH dependence, nuclear magnetic resonance and titration experiments demonstrate that PDMAc is not a weak polybase. The interaction between single chains and a silicon surface (with native oxide layer intact) in aqueous solution was investigated using force spectroscopy. Single-molecule force measurements were performed using thiol-functionalized PDMAc and gold-coated AFM cantilevers. The forces of interaction between PDMAc and the native oxide-coated silicon surface vary with the pH. The shape of the retraction curve for low pH solution includes a greater number of ‘train’ conformations, which suggests a stronger interaction with the surface relative to the surrounding media at low pH. The adsorption behaviour of PDMAc, from liquid onto silicon surfaces, was monitored using a QCM, which shows greater PDMAc adsorption onto silicon at low pH. The force spectroscopy and QCM investigations confirm that the PDMAc chain is more extended and stiffer in low pH solution. We attribute the pH-dependent behaviour to an increased number of hydrogen bonding sites on the silicon surface at low pH.
Disentangling the Fuzzy Front End of Digital Transformation: Activities and Approaches

Digital transformation poses critical challenges to organizations. The initial phase – the “fuzzy front-end“– in such a profound innovation process is often perceived as ill-defined and chaotic, yet it may have great impact on the outcome. However, managers struggle with initiating this process and prioritizing between different activities. Prior research has pointed out the importance of a digital transformation strategy, however, less emphasis is put on the activities that enact this strategy. Drawing on qualitative data from eleven organizations with an ongoing digital transformation program and by employing activity theory, we delineate nine patterns of typical activities in the beginning of digital transformation. The prioritization of these activities reveals five approaches – centralized, bottom-up, IT-centered, innovation-centered, and channel centered. The results contribute to a better understanding of the initial phases of digital transformation for practitioners and complement prior research on digital transformation strategy with deeper insights on typical activities and approaches.
Learning the Experimenter's Design Tacit: Sensitivity to the Structure of Memory Lists

Two experiments are reported that draw an analogy between experiments on verbal memory and experiments on tacit learning. Rules that experimenters use to select words for memory experiments, such as frequency, length, and grammatical class, produce consistencies to which subjects can become sensitive. Replicating the key results from the tacit learning literature, subjects in our experiments discriminated new words consistent with the experimenters’ selection rules from inconsistent words, even when they could not describe those rules. The results also reveal a close relation between the information underlying both recognition memory and classification judgements. In particular, a “mirror effect” (Glanzer & Bowles, 1976) is found with both tasks. Implications for research on memory and learning are discussed.
Systematic multiplex polymerase chain reaction and reverse transcription‐polymerase chain reaction analyses of changes in copy number and expression of proto‐oncogenes and tumor suppressor genes in cancer tissues and cell lines

Systematic multiplex reverse transcription‐polymerase chain reaction (SM RT‐PCR) is distinguishable from other multiplex RT‐PCR methods by (i) utilization of primers that amplify sequences that fall within a single exon of the genes, (ii) utilization of genomic DNA as a calibration standard, and (iii) optimized PCR conditions that allow amplification of bands of similar intensity using genomic DNA template. We previously developed the human experimental systems of 68 glycosyltransferase genes, 39 Hox genes, and 26 integrin subunit genes, and analyzed the expression of those genes in human adult tissues. Here we report the establishment of an SM RT‐PCR system of proto‐oncogenes and tumor suppressor genes and the analysis of gene expression in human cancer tissues and cell lines. We also demonstrate that the SM RT‐PCR system, which was developed for cDNA expression analysis, could also be used successfully for more exquisite analysis of copy number changes in genomic DNA. We observed a decrease in band intensity of HRAS, TP73, CDKN2A, and CDKN2B genes in most of the breast and prostate cancer cell lines examined. The decrease in copy number of HRAS proto‐oncogene leads us to suspect the presence of tumor suppressor genes in the vicinity of this gene on chromosome 11p15.5.
Combined Immersed-Boundary Finite-Difference Methods for Three-Dimensional Complex Flow Simulations

A second-order accurate, highly efficient method is developed for simulating unsteady three-dimensional incompressible flows in complex geometries. This is achieved by using boundary body forces that allow the imposition of the boundary conditions on a given surface not coinciding with the computational grid. The governing equations, therefore, can be discretized and solved on a regular mesh thus retaining the advantages and the efficiency of the standard solution procedures. Two different forcings are tested showing that while the quality of the results is essentially the same in both cases, the efficiency of the calculation strongly depends on the particular expression. A major issue is the interpolation of the forcing over the grid that determines the accuracy of the scheme; this ranges from zeroth-order for the most commonly used interpolations up to second-order for an ad hoc velocity interpolation. The present scheme has been used to simulate several flows whose results have been validated by experiments and other results available in the literature. Finally in the last example we show the flow inside an IC piston/cylinder assembly at high Reynolds number; to our knowledge this is the first example in which the immersed boundary technique is applied to a full three-dimensional complex flow with moving boundaries and with a Reynolds number high enough to require a subgrid-scale turbulence model.
Ground and power bounce in 32 nm digital CMOS circuit

In this paper, a study of ground and power bounce effect in small digital CMOS circuits is proposed. First, a simplified model of digital CMOS circuit and its operation are analyzed. Then, an analytical method for computing the ground and power bounce, based on differential equations, is detailed. Finally, the effect of ground and power bounce is studied through simulations in two different simulators - Pspice and Matlab.
A visual analysis approach to cohort study of electronic patient records

The ability to analyze and assimilate Electronic Medical Records (EMR) has great value to physicians, clinical researchers, and medical policy makers. Current EMR systems do not provide adequate support for fully exploiting the data. The growing size, complexity, and accessibility of EMRs demand a new set of tools for extracting knowledge of interest from the data. This paper presents an interactive visual mining solution for cohort study of EMRs. The basis of our design is multidimensional, visual aggregation of the EMRs. The resulting visualizations can help uncover hidden structures in the data, compare different patient groups, determine critical factors to a particular disease, and help direct further analyses. We introduce and demonstrate our design with case studies using EMRs of 14,567 Chronic Kidney Disease (CKD) patients.
Tight junction proteins in keratinocytes: localization and contribution to barrier function

Abstract: Recent research suggests that tight junctions (TJs) are located in the stratum granulosum, where they contribute to the barrier function of the epidermis. In this study, we investigated the formation of functional TJs in cultured normal human epidermal keratinocytes. We observed the development of permeability barrier function through the process of Ca2+‐induced differentiation. Immunofluorescence analyses at 96 h after Ca2+‐induced differentiation revealed concentrated portions of occludin, a TJ‐specific marker, arranged as continuous lines circumscribing individual flattened suprabasal cells in areas with high concentrations of claudin‐1 and ‐4. Transient Ca2+ depletion reversibly disrupted the continuous network of TJ proteins and the permeability barrier. We also found that the addition of ochratoxin A weakened the permeability barrier and the expression of claudin‐4. Our findings suggest that TJ proteins contribute to the permeability barrier in epidermal keratinocytes.
Transgenic Expression of a Soluble Complement Inhibitor Protects Against Renal Disease and Promotes Survival in MRL/lpr Mice1

To investigate the role of complement in lupus nephritis, we used MRL/lpr mice and a transgene overexpressing a soluble complement regulator, soluble CR1-related gene/protein y (sCrry), both systemically and in kidney. Production of sCrry in sera led to significant complement inhibition in Crry-transgenic mice relative to littermate transgene negative controls. This complement inhibition with sCrry conferred a survival advantage to MRL/lpr mice. In a total of 154 animals, 42.5% transgene-negative animals had impaired renal function (blood urea nitrogen > 50 mg/dl) compared with 16.4% mice with the sCrry-producing transgene (p < 0.001). In those animals that died spontaneously, MRL/lpr mice with the sCrry-producing transgene did not die of renal failure, while those without the transgene did (blood urea nitrogen values of 46.6 ± 9 and 122 ± 29 mg/dl in transgene-positive and transgene-negative animals, respectively; p < 0.001). Albuminuria was reduced in those transgenic animals in which sCrry expression was maximally stimulated (urinary albumin/creatinine = 12.4 ± 4.3 and 36.9 ± 7.7 in transgene-positive and transgene-negative animals, respectively; p < 0.001). As expected in the setting of chronic complement inhibition, there was less C3 deposition in glomeruli of sCrry-producing transgenic mice compared with transgene-negative animals. In contrast, there was no effect on glomerular IgG deposition, levels of anti-dsDNA Ab and rheumatoid factor, or spleen weights between the two groups. Thus, long-term complement inhibition reduces renal disease in MRL/lpr mice, which translates into improved survival. MRL/lpr mice in which complement is inhibited still have spontaneous mortality, yet this is not from renal disease.
Cortisol awakening response and internalizing symptoms across childhood

Efforts to identify biological correlates of internalizing symptoms in childhood have involved examinations of HPA-axis functioning, namely Cortisol Awakening Response (CAR). However, research has not assessed the relationship between CAR and internalizing problems among children younger than 8 years. Findings with older samples have been somewhat equivocal, perhaps due to high rates of co-occurring externalizing symptoms during childhood and/or due to age-related differences. This cross-sectional study examined CAR in an at-risk sample of children aged 22 months to 8 years at various levels of risk for internalizing symptoms. Internalizing symptoms were associated with blunted CAR, but only after controlling for externalizing problems. The relationship between CAR and internalizing symptoms disappeared with age. Results demonstrate that a negative association between CAR and internalizing exists during early childhood and illustrate the importance of accounting for comorbid externalizing disorders and developmental stage when assessing the HPA-internalizing link.
Electrocardiographic Prediction of Abnormal Genotype in Congenital Long QT Syndrome: Experience in 101 Related Family Members

Prediction of Congenital Long QT Syndrome. Introduction: Previous studies showed that diagnosing congenital long QT syndrome (LQTS) is difficult due to variable penetrance and genetic heterogeneity, especially when subjects from multiple families with diverse mutations are combined. We hypothesized that a combination of clinical and ECG techniques could identify gene carriers within a single family with congenital LQTS.
Mutational Analysis of the Subgroup A Avian Sarcoma and Leukosis Virus Putative Fusion Peptide Domain

ABSTRACT Short hydrophobic regions referred to as fusion peptide domains (FPDs) at or near the amino terminus of the membrane-anchoring subunit of viral glycoproteins are believed to insert into the host membrane during the initial stage of enveloped viral entry. Avian sarcoma and leukosis viruses (ASLV) are unusual among retroviruses in that the region in the envelope glycoprotein (EnvA) proposed to be the FPD is internal and contains a centrally located proline residue. To begin analyzing the function of this region of EnvA, 20 substitution mutations were introduced into the putative FPD. The mutant envelope glycoproteins were evaluated for effects on virion incorporation, receptor binding, and infection. Interestingly, most of the single-substitution mutations had little effect on any of these processes. In contrast, a bulky hydrophobic substitution for the central proline reduced viral titers 15-fold without affecting virion incorporation or receptor binding, whereas substitution of glycine for the proline had only a nominal effect on EnvA function. Similar to other viral FPDs, the putative ASLV FPD has been modeled as an amphipathic helix where most of the bulky hydrophobic residues form a patch on one face of the helix. A series of alanine insertion mutations designed to interrupt the hydrophobic patch on the helix had differential effects on infectivity, and the results of that analysis together with the results observed with the substitution mutations suggest no correlation between maintenance of the hydrophobic patch and glycoprotein function.
The Influence of Aspect Ratio and Orientation to Scattering Properties of Ellipsoid Ice Particles

The influence of aspect ratio and orientation to scattering properties of ellipsoid ice particles at 94GHz is studied by Discrete-Dipole Approximation (DDA) method. Absorption efficiency, scattering efficiency, asymmetry factor and backscattering efficiency are computed with aspect ratios vary from 0.2 to 1.0, whose size parameter range are selected from 0 to 5. It is found that the values of scattering properties are increasing if the particle size increases, but if the size is larger than the limit value, oscillation occur, and the oscillation phenomenon will be smoothed by random orientation compared with that of horizontal orientation because scattering properties computed by random orientation method have more average frequency than that of horizontal orientation. In non-oscillating region, the scattering efficiency is larger than the absorption efficiency due to small imaginary part of the complex refractive of ice at 94 GHz, and scattering properties increase if the aspect ratio increases with the same size parameter but this feature is apparent only in the case of horizontal orientation. The asymmetric degree of forward scattering and backscattering increases when particle size increases when size parameter of particle is not exceeding 1.5.
Comparison of Different Methodologies for Detailed Screening of Taraxacum officinale Honey Volatiles

Headspace solid-phase microextraction (HS-SPME), ultrasonic solvent extraction (USE) and solid phase extraction (SPE), followed by GC-FID/MS were used for screening of dandelion (Taraxacum officinale Weber) honey headspace, volatiles and semi-volatiles. The obtained results constitute a breakthrough towards screening of dandelion honey since dominant compounds identified in the extracts were not previously reported for this honey type. Nitriles dominated in the headspace, particularly 3-methylpentanenitrile (up to 29.9%) and phenylacetonitrile (up to 20.9%). Lower methyl branched aliphatic acids and norisoprenoids were relevant minor constituents of the headspace. The extracts contained phenylacetic acid (up to 24.0%) and dehydrovomifoliol (up to 19.3%) as predominant compounds, while 3-methylpentanenitrile and phenylacetonitrile were detected in the extracts in minor abundance. Dehydrovomifoliol can be considered more characteristic for dandelion honey in distinction from phenylacetic acid. Low molecular aliphatic acids, benzene derivatives and an array of higher aliphatic compounds were also found in the extracts. The results of SPE/GC-FID/MS were very similar to USE/GC-FID/MS with the solvent dichloromethane. The use of all applied methodologies was relevant for the comprehensive chemical fingerprinting of dandelion honey volatiles.
An FMCW Radar for Accurate Level Measurements

The system is intended for tank level measurements and is based on a single linear sweep. By the use of a coaxial cable as a reference and a special calculating process a good accuracy and noise immunity is obtained. The accuracy is typical 0,05 % or 5 mm over a 0-60 m range. One problem with the application is the discrimination of false echoes which is done by a narrow antenna beam, an amplitude threshold and a filter. The calculation and the filtering is insensitive to unlinearities.
Web Service Planner (WSPR): An Effective and Scalable Web Service Composition Algorithm

As the emergence of service-oriented architecture provides a major boost for e-commerce agility, the number of available Web services is rapidly increasing. However, when there are a large number of Web services available and no single Web service satisfies the given request, one has to â€œcomposeâ€ multiple Web services to fulfill the goal. In this article, toward this problem, we present an AI planning-based Web service composition algorithm named as WSPR. We evaluate the efficiency and effectiveness of WSPR using two publicly available test setsâ€”EEE05 and ICEBE05. In addition, we analyze the two test sets and suggest several improvements to benchmark Web service composition better.
Application of hypergraphs in microcode length reduction of microprogrammed controllers

In the paper we propose a new method of the microinstruction length reduction in the designing process of microprogrammed controllers. The algorithm is based on the representation of the compatibility classes with hypergraphs. The whole process of the microinstruction length reduction is presented in details and illustrated by an example. Finally, proposed idea is compared with traditional solutions, based on the graph theory.
THE INHERITANCE OF POLYCYSTIC OVARIAN DISEASE AND A POSSIBLE RELATIONSHIP TO PREMATURE BALDING

We have examined the prevalence of a history of hirsuties, alone or associated with oligomenorrhoea and infertility, among first degree female relatives of 284 hirsute patients with or without oligomenorrhoea, and found it to be significantly higher than that in controls (P< 0.001). The prevalence of a history of premature balding among first degree male relatives of 136 such patients was also significantly higher than that in controls (P<0.001). We found relative prevalences of the respective conditions among mothers and daughters and among fathers and brothers suggestive in both cases of modified dominant forms of inheritance. These data and evidence from the literature suggest the possible existence of a single genetically determined disorder with hirsuties, oligomenorrhoea, infertility and commonly but not invariably enlarged polycystic ovaries occurring among affected female members, and with premature balding among affected male members. The prevalence of a history of oligomenorrhoea and infertility together was also examined among first degree relatives of forty‐five non‐hirsute patients with oligomenorrhoea and enlarged ovaries demonstrated by gynaecography and found significantly greater than that in controls (P< 0.001). The prevalence among forty‐five similar patients but with gynaecographically normal‐sized ovaries was greater than that in controls but the difference fell short of significance (P= 0.06). The data suggest the existence of a genetically determined disorder consisting of oligomenorrhoea, infertility and commonly but not invariably enlarged polycystic ovaries. Again the relative prevalences among mothers and sisters suggest a modified dominant form of inheritance. Neither the prevalence of hirsuties among first degree female relatives nor of premature balding among first degree male relatives differed from controls in these non‐hirsute patients. This suggests that the two disorders are aetiologically distinct. Their possible pathogeneses, which remain obscure, are discussed. A steroid receptor organ anomaly is one possibility.
A Stability Improvement Technique Using PML Condition for the Three-Dimensional Nonuniform Mesh Nonstandard FDTD Method

We propose a technique to improve the stability of three-dimensional (3D) nonuniform mesh nonstandard FDTD (NS-FDTD) calculations. To mitigate the numerical instability arising from the connection of different-sized meshes, our method combines the usual interpolation fields and perfectly matched layer (PML) condition at mesh interfaces. We examine a connection for a mesh size ratio of 3:1, and show numerically that our technique improves the stability of 3D NS-FDTD calculation on nonuniform meshes. Our technique is also applied to analyze the fields around a periodic slot panel.