Miracle-dz/UniFAR-FTUs huggingface dataset:
A Method to Quantify Cell-Free Fetal DNA Fraction in Maternal Plasma Using Next Generation Sequencing: Its Application in Non-Invasive Prenatal Chromosomal Aneuploidy Detection

Objective The fraction of circulating cell-free fetal (cff) DNA in maternal plasma is a critical parameter for aneuploidy screening with non-invasive prenatal testing, especially for those samples located in equivocal zones. We developed an approach to quantify cff DNA fractions directly with sequencing data, and increased cff DNAs by optimizing library construction procedure. Methods Artificial DNA mixture samples (360), with known cff DNA fractions, were used to develop a method to determine cff DNA fraction through calculating the proportion of Y chromosomal unique reads, with sequencing data generated by Ion Proton. To validate our method, we investigated cff DNA fractions of 2,063 pregnant women with fetuses who were diagnosed as high risk of fetal defects. The z-score was calculated to determine aneuploidies for chromosomes 21, 18 and 13. The relationships between z-score and parameters of pregnancies were also analyzed. To improve cff DNA fractions in our samples, two groups were established as follows: in group A, the large-size DNA fragments were removed, and in group B these were retained, during library construction. Results A method to determine cff DNA fractions was successfully developed using 360 artificial mixture samples in which cff DNA fractions were known. A strong positive correlation was found between z-score and fetal DNA fraction in the artificial mixture samples of trisomy 21, 18 and 13, as well as in clinical maternal plasma samples. There was a positive correlation between gestational age and the cff DNA fraction in the clinical samples, but no correlation for maternal age. Moreover, increased fetal DNA fractions were found in group A compared to group B. Conclusion A relatively accurate method was developed to determine the cff DNA fraction in maternal plasma. By optimizing, we can improve cff DNA fractions in sequencing samples, which may contribute to improvements in detection rate and reliability.
Optimal Buffer-Aided Relaying With Imperfect CSI

In this letter, we consider a two-hop relay channel that consists of a source, a half-duplex decode-and-forward relay, and a destination. We derive the optimal buffer-aided relaying policy based on imperfect channel state information (CSI) and under long-term per-node power constraints for the source and the relay. In particular, the proposed protocol determines the optimal state of the relay node, namely, the transmit, receive, or silent state, based on the imperfect CSI of the involved links, the quality of the CSI, and the required acquisition overhead. Our simulation results verify the analysis and reveal that there is an optimal tradeoff between the required acquisition overhead and the quality of the CSI that maximizes the throughput.
Overexpression of phosphatase regenerating liver 3 in oesophageal squamous cell carcinoma associated with metastasis and its comparison with phosphatase regenerating liver 1

Expression of PRL3 (phosphatase of regenerating liver 3) protein was examined with immunohistochemistry in 60 cases of ESCC (oesophageal squamous cell carcinoma) with matched lymph node metastasis (n=40) and 6 cases of oesophageal adenocarcinoma. Its associations with PRL1 and clinicopathological parameters were analysed. The results showed the frequency of PRL3 protein expression was significantly higher in ESCC (39/60, 65%) than in normal oesophageal mucosa (0/20, P<0.001); higher in ESCC with lymph node metastasis (30/40, 75%) than in ESCC without lymph node metastasis (9/20, P=0.022), as well as higher in metastatic ESCC in lymph node (38/40, 95%) than in the primary ESCC (39/60, 65%, P<0.001). PRL3 was expressed in 1 out of 6 oesophageal adenocarcinomas, but showed no nuclear staining of PRL1. Expression of PRL3 protein was positively associated with the grade and partially with the stage of ESCC. These results suggest that expression of PRL3 protein may be involved in the metastasis of ESCC and serve as a biomarker for prediction of ESCC metastasis.
Rituximab alone or in association with corticosteroids in the treatment of acquired factor VIII inhibitors: report of two cases

summary. Acquired haemophilia is a factor VIII (FVIII) deficiency due to autoantibodies directed against FVIII that can be responsible for severe haemorrhage. The therapeutic approach, in addition to the treatment of bleeding episodes with clotting factor infusion, relies on corticosteroids (CS), cyclophosphamide (CYC), and/or high‐dose intravenous immunoglobulins (IVIg). However, the efficacy of IVIg is limited, and CS and CYC may cause a number of adverse effects. Recently, rituximab has been proposed, alone or in combination with CS and immunosuppressants in a small number of patients with acquired anti‐FVIII antibodies with a good efficacy. We report here on two patients, aged 74 and 81, respectively, who developed acquired haemophilia, with high titre FVIII inhibitors and severe haemorrhage, in the absence of a detectable cause. Both of them received rituximab as a first line therapy with a marked and prolonged efficacy.
Penggunaan peta konsep untuk meningkatkan pencapaian matapelajaran sejarah bagi pelajar tingkatan dua

The purpose of this research was to examine the usage of concept map in increasing students performance to increase students’ performance for history subject in Form 2. Besides that, this research also examined whether using concept map would increase students performance. Futhermore, this research also studied students acceptance towards concept map. This research was done in a school in Cheras, Selangor. Action research design employing the qualitative and quantitative methods with the research sample used was 37 students and one teacher from a school in Cheras. This research used concept map as a dependent variable and academic achievement as independent variable. The research used sets of multiple choice tests as the pretest and post test questionnaires to view students’ acceptance towards concept map, teacher’s observation form, lesson plan and also interviews between teacher and students. The analyzed data used was inferential and descriptive statistic. The research result showed that there was no significant difference in the means of achievement between genders in the pre and post-test. Meanwhile, there was a significant difference in the mean achievement of the pre-test and post-test. The students’ acceptance towards concept map was positive-medium. Overall, concept map was efficient in increasing students’ performance in history subject.
Combined Influence of Selective Focus and Decision Involvement on Attitude-Decision Consistency in a Memory-based Decision Context

Marketers often use salient stimuli to draw consumers’ attention to a specific brand in the hope that a selective focus on the own brand increases the sales of this brand. However, previous studies are inconsistent concerning the impact that selectively focusing on a specific brand has on final brand choice. To offer an explanation for these inconsistent results, this paper introduces decision involvement as a moderator of the relation between selective focus and attitude-decision consistency. Two studies indicate that selectively focusing on a not most preferred alternative indeed alters choice decisions, but only when decision involvement is low. Study 1 further shows that this interaction effect between selective focus and involvement takes place in the selection rather than the brand consideration stage. By introducing level of processing next to decision involvement, Study 2 shows that the interaction effect emerges even in limited processing conditions. The study also reconciles different explanations for the negative effect of selective focus on attitude-behavior consistency. Selectively focusing on a not preferred choice option when consumer are low involved and use limited processing seems to lead to inconsistent choices because of an increased accessibility of the focal option, whereas selective focus on a not preferred option when consumers are low involved and use deep processing lead to inconsistent choices because of attitude polarization.
Asymptotic analysis of the scattering of a time-harmonic electromagnetic wave by a perfectly conducting metal coated with a thin dielectric shell

Our purpose is to investigate the effect of a thin dielectric coating on the scattering of a time-harmonic electromagnetic wave by a perfectly conducting metal. An asymptotic expansion of the solution of a model problem is performed relatively to the thickness of the dielectric shell. A suitable scaling as well as an adapted writing of the the curl operator inside the thin shell make it possible to achieve an asymptotic expansion of the electromagnetic field at any order. Special stability estimates for Maxwell’s equations relatively to the thickness of the dielectric shell then yield optimal error estimates outside the obstacle.
Smell and Taste in Health and Disease

Smells are surer than sounds and sights to make your heart-strings crack. —Rudyard Kipling So begins this thorough compendium of current knowledge of human chemosensation. While clearly the best work available on the topic, it suffers the inevitable shortcomings of such collections: with each chapter by a different author, there is a certain disjointedness and overlapping. The editors have overcome this to a degree by organizing the book into seven parts: "Neural Basis," "Psychophysical Integration," "Chemosensory Regulation of Behavior," "Clinical Problems," "Transport Disorders," "Sensorineural Disorders," and "Systemic Conditions. " With the notable absence of Robert Henkin, the authors include the gurus of chemosensation. Overall, the work represents the best scientific writing in the field. Not that the volume is without problems. The chapter on depression and the chemical senses is years out of date, referring to Diagnostic and Statistical Manual of Mental Disorders-III criteria (1980) rather than the DSM-III-R (1987).
Cytomegalovirus reactivation during alemtuzumab therapy for chronic lymphocytic leukemia: incidence and treatment with oral ganciclovir.

BACKGROUND AND OBJECTIVES Although alemtuzumab (campath-1H) has been successfully used in patients with untreated or previously treated chronic lymphocytic leukemia (CLL), a variable incidence of cytomegalovirus (CMV) reactivation has been described. No prospective reports currently provide results of the use of oral ganciclovir as pre-emptive therapy in patients with CMV reactivation during alemtuzumab treatment. DESIGN AND METHODS We designed a prospective study in 12 patients with pretreated CLL with the aim of evaluating the incidence of CMV reactivation during alemtuzumab treatment and the role of oral ganciclovir as pre-emptive therapy and in preventing CMV organ disease. RESULTS In the 12 CLL patients being treated with alemtuzumab, 8 patients (66%) had CMV reactivation, as detected by antigenemia and/or CMV DNA. No patient showed clinical evidence of CMV disease. The alemtuzumab was discontinued and the patients were immediately treated with oral ganciclovir 1000 mg tid. After a median of 14 days of antiviral therapy all patients achieved negative CMV polymerase chain reaction (PCR) assays and/or antigenemia. No patients showed further CMV reactivation up to the end of the study. INTERPRETATION AND CONCLUSIONS CMV reactivaction, studied with periodic analysis of antigenemia and PCR, is frequent in previously treated CLL patients receiving alemtuzumab therapy although only sporadic cases of CMV disease have been reported. Using oral ganciclovir, the response to therapy was prompt, there was no progression to CMV disease, and no relevant clinical toxicity, thus sparing unnecessary hospitalization. Oral ganciclovir may be used as pre-emptive therapy in all patients who develop CMV reactivation during alemtuzumab treatment.
Neighborhood Violence and Urban Youth

Three quarters of American children have been exposed to neighborhood violence in their lifetimes. Most of the existing research has concluded that exposure to violence leads to restricted emotional development, aggressive behavior and poor school outcomes. However, this literature fails to account for the fact that children exposed to neighborhood violence are highly disadvantaged in other ways: they are more likely to be black, poor and have poorly educated parents. As such, it is not clear whether exposure to violence or the underlying measures of disadvantage are responsible for the poor child outcomes observed. Using individual survey data on urban youth and their families from Los Angeles, we find that the most violent neighborhoods are also characterized by the highest degree of disadvantage: greatest poverty, highest unemployment, least education. And while living in a violent neighborhood increases the probability of exposure to violence, within violent neighborhoods those personally exposed to street violence are significantly more disadvantaged and are more likely to associate with violent peers than their unexposed neighbors. Once we control for observed and unobserved family disadvantage, the impact of violence declines for some child outcomes, suggesting that underlying disadvantage explains some of the negative outcomes observed, but not all - it is still the case that associating with violent peers is negatively correlated with cognitive test scores. In addition, when we control for underlying differences across families, the relationship between violence and internalizing behavioral problems appears stronger.
JUSTIFIABLE HOMICIDE: BATTERED WOMEN, SELF-DEFENSE AND THE LAW

Tess seizes a carving knife from the breakfast tray and stabs Alec d'Urberville through the heart. She is quickly apprehended and Hardy's tragic novel concludes with her hanging: "'Justice' was done, and the President of The Immortals . had ended his sport with Tess. "2 Although it is not explicit in the book that Alec d'Urberville has continually abused Tess physically, it is unmistakable that he has raped her and that she is the ongoing victim of his psychological and emotional mistreatment. Tess has been as imprisoned by her brutal lover as if he had actually put her behind bars, and she perceives his death as her only possible escape. Until the stabbing, she has been beaten down, robbed of her spirit, deprived of control of her life. And after the stabbing, Hardy's novel rolls to a swift and inevitable conclusion: for her crime, Tess loses her life. "Justice" is done. Until recently, women like Tess who killed abusive men remained
Neurologic syndrome associated with homozygous mutation at MAG sialic acid binding site

The MAG gene encodes myelin‐associated glycoprotein (MAG), an abundant protein involved in axon–glial interactions and myelination during nerve regeneration. Several members of a consanguineous family with a clinical syndrome reminiscent of Pelizaeus–Merzbacher disease and demyelinating leukodystrophy on brain MRI were recently found to harbor a homozygous missense p.Ser133Arg MAG mutation. Here, we report two brothers from a nonconsanguineous family afflicted with progressive cognitive impairment, neuropathy, ataxia, nystagmus, and gait disorder. Exome sequencing revealed the homozygous missense mutation p.Arg118His in MAG. This Arg118 residue in immunoglobulin domain 1 is critical for sialic acid binding, providing a compelling mechanistic basis for disease pathogenesis.
Multiple Involvement of Clusterin in Chicken Ovarian Follicle Development

The interaction of the female germ cell with somatic cells during the development of the ovarian follicle in the chicken provides a prime system to study gene expression. Here, we have uncovered the involvement of clusterin, the function(s) of which is still poorly understood, in this complex process. As revealed by molecular cloning, chicken clusterin is a 428-residue protein that migrates at 70 kDa on SDS-polyacrylamide gel electrophoresis and possesses most of the structural features of its mammalian successors. However, in contrast to mammalian clusterin, the chicken protein appears not to be cleaved intracellularly into a disulfide-linked heterodimer; possibly as a consequence thereof, it is not secreted constitutively and is absent from the circulation, where most of clusterin is found in mammals. In the ovary, clusterin is a major product of the somatic granulosa cells, in a pattern correlating with the developmental phases of individual follicles. In that, transcript levels are high not only at onset of vitellogenesis, but also in atretic follicles and in the postovulatory follicle sac,i.e. in situations characterized by apoptotic events. Yolk of growing oocytes contains a 43-kDa truncated form of clusterin that does not appear to be synthesized within the oocyte. Rather, we here show for the first time that 70-kDa clusterin interacts not only with megalin, but also with two chicken oocyte-specific members of the low density lipoprotein receptor (LDLR) gene family. These receptors, termed LDLR-related protein with eight ligand binding repeats (LR8) and LDLR-related protein (380 kDa), likely internalize granulosa cell-derived 70-kDa clusterin, which may subsequently be processed to the 43-kDa product. Thus, chicken clusterin could serve as a marker for follicular atresia and resorption, and, based on its ability to bind several other proteins, it may serve as carrier for the receptor-mediated endocytosis into oocytes of components important for embryonic development, two hitherto unknown functions of this intriguing protein.
Relations Between Long‐term Synaptic Modifications and Paired‐pulse Interactions in the Rat Neocortex

The phenomenon of paired‐pulse facilitation (PPF) was exploited to investigate the role of presynaptic mechanisms in the induction and maintenance of long‐term synaptic plasticity in the neocortex. Long‐term potentiation (LTP) and depression (LTD) were induced without afferent activation by applying tetani of intracellular pulses. Our results show that synaptic modifications closely resembling LTP and LTD can be induced by postsynaptic activation alone. The polarity of these synaptic modifications depends on initial properties of the input, as indicated by a correlation between initial PPF ratio and post‐tetanic amplitude changes: inputs exhibiting strong PPF, which might be associated with low release probability tend to be potentiated, while inputs with small PPF are more likely to show depression. Maintenance of both LTP and LTD involve presynaptic mechanisms, as indicated by changes in PPF ratios and in failure rate after LTP or LTD induction. Presynaptic mechanisms could include changes in release probability and/or in the number of active release sites. Because induction was postsynaptic, this supports the notion of a retrograde signal. The relative contribution of pre‐ and postsynaptic mechanisms in the maintenance of long‐term synaptic modifications depends on the initial state of the synaptic input and on LTP magnitude. PPF changes were especially pronounced in inputs which had initially high PPF and underwent strong potentiation. Since LTP and LTD are associated with changes of PPF ratios these synaptic modifications do not only alter the gain but also the temporal properties of synaptic transmission. Because of the LTP associated reduction of PPF, potentiated inputs profit less from temporal summation, favouring transmission of synchronized, low frequency activity.
Dissociable Contributions of the Orbitofrontal and Infralimbic Cortex to Pavlovian Autoshaping and Discrimination Reversal Learning: Further Evidence for the Functional Heterogeneity of the Rodent Frontal Cortex

To examine possible heterogeneity of function within the ventral regions of the rodent frontal cortex, the present study compared the effects of excitotoxic lesions of the orbitofrontal cortex (OFC) and the infralimbic cortex (ILC) on pavlovian autoshaping and discrimination reversal learning. During the pavlovian autoshaping task, in which rats learn to approach a stimulus predictive of reward [conditional stimulus (CS+)], only the OFC group failed to acquire discriminated approach but was unimpaired when preoperatively trained. In the visual discrimination learning and reversal task, rats were initially required to discriminate a stimulus positively associated with reward. There was no effect of either OFC or ILC lesions on discrimination learning. When the stimulus-reward contingencies were reversed, both groups of animals committed more errors, but only the OFC-lesioned animals were unable to suppress the previously rewarded stimulus-reward association, committing more “stimulus perseverative” errors. In contrast, the ILC group showed a pattern of errors that was more attributable to “learning” than perseveration. These findings suggest two types of dissociation between the effects of OFC and ILC lesions: (1) OFC lesions impaired the learning processes implicated in pavlovian autoshaping but not instrumental simultaneous discrimination learning, whereas ILC lesions were unimpaired at autoshaping and their reversal learning deficit did not reflect perseveration, and (2) OFC lesions induced perseverative responding in reversal learning but did not disinhibit responses to pavlovian CS-. In contrast, the ILC lesion had no effect on response inhibitory control in either of these settings. The findings are discussed in the context of dissociable executive functions in ventral sectors of the rat prefrontal cortex.
Toward User-directed Evolution of Sound Synthesis Parameters

Experiments are described which use genetic algorithms operating on the parameter settings of an FM synthesizer, with the aim of mimicking known synthesized sounds. The work is considered as a precursor to the development of synthesis plug-ins using evolution directed by a user. Attention is focussed on the fitness functions used to drive the evolution: the main result is that a composite fitness function – based on a combination of perceptual measures, spectral analysis, and low-level sample-by-sample comparison – drives more successful evolution than fitness functions which use only one of these types of criterion.
Rapid detection of cytomegalovirus in cell culture by indirect immunoperoxidase staining with monoclonal antibody to an early nuclear antigen

A method for the rapid detection of cytomegalovirus (CMV) in MRC-5 cells 48 h after inoculation with clinical specimens was developed. A commercially available monoclonal antibody to a CMV early nuclear antigen was used in an indirect immunoperoxidase (IPA) staining procedure performed directly on acetone-fixed cell monolayers in standard tubes (16 by 125 mm). Of 190 clinical specimens tested, 30 specimens produced CMV cytopathic effect in tissue culture (TC-CPE) within 14 days after inoculation and, of these 30, 28 were positive for CMV after 48 h by the IPA staining procedure (sensitivity, 93%). Of the remaining 160 clinical specimens negative by TC-CPE within 14 days, 7 were positive by the IPA stain (specificity, 96%). However, three of these seven specimens were positive by TC-CPE upon subculture after the initial 14-day incubation period, and one specimen was overgrown by herpes simplex virus type 2 before CMV cytopathic effect could develop. The mean time to appearance of cytopathic effect for the 30 specimens positive by TC-CPE within 14 days was 6.7 days. These findings indicate that this IPA staining is a useful method for the rapid detection of CMV in cell monolayers inoculated with clinical specimens.