Miracle-dz/UniFAR-FTUs huggingface dataset:
Genotype–phenotype correlation in MYH9‐related thrombocytopenia

Mutation of the non‐muscle myosin heavy chain type II‐A results in MYH9‐related hereditary macrothrombocytopenia (HMTC), including four autosomal dominant platelet disorders: May‐Hegglin anomaly (MHA), Sebastian (SBS), Fechtner (FS) and Epstein (EPS) syndrome. Denaturing high‐performance liquid chromatography (DHPLC) was optimised for rapid screening of the seven exons harbouring all but one of the previously reported mutations of MYH9. Individuals from 13 families with phenotypes suggestive of MYH9‐related HMTC were screened for mutations by DHPLC followed by direct sequencing of samples with aberrant column retention time. Mutations were identified in all 13 families. Six distinct missense heterozygous mutations were found in 10 families, including six families with MHA or SBS (E1841K, D1424N), three families with FS (R702H, R1165C, and D1424Y), and one family with EPS (S96L). A truncating mutation (R1933X) was found in three MHA families. A review of all published mutations suggests that mutation in the C‐terminal coiled coil region or truncation of the tailpiece is associated with haematological‐only phenotype, while mutation of the head ATPase domain frequently is associated with nephropathy and/or hearing loss. Mutations of other regions have intermediate expression of non‐haematological characteristics. Further study is required to confirm these associations and understand the molecular basis for this genotype–phenotype relationship.
A long-term study of hepatitis C virus replication in non-A, non-B hepatitis.

BACKGROUND Although antibodies to the hepatitis C virus (HCV) are known to be associated with non-A, non-B hepatitis, little is known about the pattern of HCV replication, its relation to antibody levels, and the clinical course of non-A, non-B hepatitis. METHODS We measured HCV RNA in serial serum samples from five patients with post-transfusion non-A, non-B hepatitis who were followed for 10 to 14 years after transfusion. We also studied four chimpanzees that were experimentally infected with serum from four of these patients. Serum HCV RNA was detected by a "nested" polymerase-chain-reaction (PCR) assay that used two sets of primers derived from the third (NS3) and fourth (NS4) non-structural gene regions of the HCV genome. RESULTS HCV sequences were detected by PCR in only two of the five patients and two of the four chimpanzees with the set of primers corresponding to the NS3 region, but in all five patients (and in all four chimpanzees) with the primers from the NS4 region. Serum HCV RNA was first detected within three weeks of transfusion in all five patients and within one week in three patients. The viremia lasted less than 4 months in the patient (and two chimpanzees) with acute, self-limited hepatitis, whereas it persisted for 10 to 14 years in the four patients (and for 1 and 3 years in two chimpanzees) with chronic non-A, non-B hepatitis. Antibodies to HCV were first detected at week 12 to 14; they disappeared after nine years in the patient with self-limited disease and became borderline after five years in one of the patients with chronic disease. CONCLUSIONS During the early phase of primary HCV infection, there is a period of several months of sero-negativity during which HCV RNA is the only diagnostic marker of infection. The disappearance of HCV RNA from serum appears to correlate with the resolution of non-A, non-B hepatitis, whereas viremia persists in patients whose disease progresses to chronic hepatitis. In contrast, antibody levels do not necessarily remain elevated in patients with chronic disease.
Leadership Development Programs: Investigating the Impact of Contextual and Cultural Factors on LDP Effectiveness in United Arab Emirates

The interest in leadership continues to grow over the past few decades. Leadership Development Programs (LDPs) have become a priority for all sectors, especially for the public sector. However, LDPs tend to be based on Western leadership theories, and predominantly utilize Western leadership development approaches, and do not consider the influence of national culture in their utilization, namely high-context cultures, as exists in the United Arab Emirates (UAE). This exploratory study focuses on elucidating leadership conceptualizations among Emirati leaders identifying their perceptions of the factors that impact on LDPs and leadership outcomes in the UAE public sector. Semi-structured interviews were conducted with 10 leaders from three Dubai government organisations and data were analyzed using NVivo 10. The significance of the findings of the study are: (1) leadership conceptualizations were based on the common themes of inspiring others and communication, (2) mentoring and coaching were noted to be among the best mechanisms utilized in LDPs, (3) leadership challenges included access to financial resources, adapting to ‘smart’ government, and building and retention of leaders– hence the need for effective LDPs. The study provides a unique and significant contextual contribution highlighting improvement in opportunities for leadership development programs in the UAE public sector.
A training course for oncology nurses in familial cancer risk assessment: evaluation of knowledge and practice.

BACKGROUND With the availability of genetic testing for cancer, a variety of health professionals are needed to counsel individuals seeking cancer risk information. To address the educational needs of oncology nurses, a training course in familial cancer risk assessment and counseling was developed at Fox Chase Cancer Center, Philadelphia, Pennsylvania. METHODS Four training sessions were conducted with 164 nurses. Knowledge was assessed from pretest to posttest using Wilcoxon's signed-rank test. Comparison of practice in cancer risk assessment (CRA) was measured at baseline and six months with McNemar's procedures. RESULTS There was statistically significant improvement in knowledge from pre to post test. There was self-reported improvement in collecting family histories and assessing cancer risk. Those reporting current practice in risk assessment post-training were more likely to collect required family history information and had greater confidence in skills. CONCLUSIONS With education and opportunity to practice, nurses can play key roles in CRA.
Linearization and transposition of circular molecules of insertion sequence IS3.

IS3 transposase has been shown to promote production of characteristic circular and linear IS3 molecules from the IS3-carrying plasmid; IS3 circles have the entire IS3 sequence with terminal inverted repeats, IRL and IRR, which are separated by a three base-pair sequence originally flanking either end in the parental plasmid, whereas linear IS3 molecules have three nucleotide overhangs at their 5' ends. Here, we showed that a plasmid carrying an IS3 derivative, which is flanked by different sequences at both ends, generated IS3 circles and linear IS3 molecules owing to the action of transposase. Cloning and sequencing analyses of the linear molecules showed that each had the same 5'-protruding three nucleotide overhanging sequences at both ends, suggesting that the linear molecules were not generated from the parental plasmid by the two double-strand breaks at both end regions of IS3. The plasmid carrying IS3 with a two base-pair mutation in the terminal dinucleotide, which would be required for transposase to cleave the 3' end of IS3, could still generate linear molecules as well as circles. Plasmids bearing an IS3 circle were cleaved by transposase and gave linear molecules with the same 5'-protruding three nucleotide overhanging sequences. These show that the linear molecules are generated from IS3 circles via a double-strand break at the three base-pair intervening sequence. Plasmids carrying an IS3 circle with the two base-pair end mutation still were cleaved by transposase, though with reduced efficiencies, suggesting that IS3 transposase has the ability to cleave not only the 3' end of IS3, but a site three nucleotides from the 5' end of IS3. IS3 circles also were shown to transpose to the target plasmids. The end mutation almost completely inhibited this transposition, showing that the terminal dinucleotides are important for the transfer of the 3' end of IS3 to the target as well as for the end cleavage.
Schizophrenia: a review of genetic studies.

Despite the complexities of schizophrenia, notable progress has been achieved in its diagnosis and treatment over the last 25 years. In this article we review the genetic research that provides the foundation for continued advances. One of the bases of our current understanding involves the observation that schizophrenia often runs in families. The development and utilization of stringent, reliable diagnostic criteria, together with the advent of modern family, twin, and adoption paradigms, demonstrate the importance of genetic factors in understanding the familial basis of the disorder. Refinements in diagnostic criteria have also enabled advances in understanding the likely mode--or modes--of genetic transmission of both schizophrenia and related disorders. After reviewing representative studies in these areas, we examine genetic linkage studies and our progress toward identifying the genes that cause schizophrenia. Although consistent results have been difficult to obtain and much work remains to be done, evidence for areas of vulnerability has been converging at particular chromosomal sites (e.g., 6p, 8p, and 22q), allowing for cautious optimism. Finally, we discuss challenges and prospects for the new millennium, including the clinical and ethical implications of genetic investigations.
Development of New Spontaneous Metastatic Heterotopic Model of Lewis Lung Carcinoma Imaged by GFP Expression

Many studies have demonstrated the importance of spontaneous metastases in cancer research. Until now, we still had only a few spontaneous metastatic models with high occurrence rate of metastasis in distant lymph and visceral tissues. We report a syngeneic heterotopic metastatic model using the Lewis lung cancer cell line with high metastatic ratio in C57BL/6 mice after transplantation by injection of cancer cells and without surgical intervention. Metastatic process was declared for each mouse in two groups –sacrificed 3 or 5 weeks after subcutaneous (s.c.) injection of the tumor cells into the dorsal side of the tail. The total number of metastases was counted as the sum of observed macrometastases. Our model produced produced a 100% rate of spontaneous lymphatic and visceral metastases after a simple injection transplantation into the heterotopic site. In mice with large primary tumors which are non-lethal, visceral and lymph macrometastases were observed. Tumor volume correlated linearly not only with the tumor growth time, but also with the number of metastases in lymph nodes and organs. This new metastatic model could be useful for studying the metastasis mechanism and for developing therapy for lymph and visceral metastases.
Calculation of susceptibility through multiple orientation sampling (COSMOS): A method for conditioning the inverse problem from measured magnetic field map to susceptibility source image in MRI

Magnetic susceptibility differs among tissues based on their contents of iron, calcium, contrast agent, and other molecular compositions. Susceptibility modifies the magnetic field detected in the MR signal phase. The determination of an arbitrary susceptibility distribution from the induced field shifts is a challenging, ill‐posed inverse problem. A method called “calculation of susceptibility through multiple orientation sampling” (COSMOS) is proposed to stabilize this inverse problem. The field created by the susceptibility distribution is sampled at multiple orientations with respect to the polarization field, B0, and the susceptibility map is reconstructed by weighted linear least squares to account for field noise and the signal void region. Numerical simulations and phantom and in vitro imaging validations demonstrated that COSMOS is a stable and precise approach to quantify a susceptibility distribution using MRI. Magn Reson Med 61:196–204, 2009. © 2008 Wiley‐Liss, Inc.
Dialect classification via discriminative training

Variability in speech due to dialect is a major factor limiting speech system performance for speech recognition, spoken document retrieval, and dialog systems. In this study, we propose a novel discriminative algorithm to improve dialect classiﬁcation for unsupervised spontaneous speech in Arabic. No transcripts are used for either training or testing, and all data are sponta-neous speech. The Gaussian mixture model (GMM) is used as our baseline system for dialect classiﬁcation. The major motivation is to remove confused/distractive regions from the dialect acoustic space, while emphasizing discriminative/sensitive information. The Kullback-Leibler divergence is used to ﬁnd the most discriminative GMM mixtures (KLD-GMM), after which the confused acoustic GMM region is removed. The proposed algorithm is evaluated on three dialects of Arabic, with measurable improvement achieved ( 4 . 0% ), over a generalized maximum likelihood estimation GMM baseline (MLE-GMM) sys-tem.
A Prospective Pilot Study of B2A-Coated Ceramic Granules (Amplex) Compared to Autograft for Ankle and Hindfoot Arthrodesis

Background: To reduce fusion nonunion, autogenous bone graft is often incorporated into foot and ankle fusion procedures. B2A peptide-coated ceramic granules, with encouraging results in pilot studies of transforaminal lumbar interbody fusion, were here reformulated into Amplex with a coating concentration of 225 μg B2A/cm3 ceramic granules (B2A-granule) with the goal of eliminating autogenous bone graft in foot and ankle arthrodesis. The purpose of this study was to perform a multicenter prospective randomized pilot clinical trial designed to compare the safety and effectiveness of B2A-granule to autogenous bone graft in patients undergoing foot and ankle arthrodesis surgery. Methods: This study was a multicenter, prospective, randomized, pilot clinical trial designed to compare safety and effectiveness of B2A-granule to autogenous bone graft in patients undergoing foot and ankle arthrodesis surgery. Twenty-four patients were enrolled and randomized (1:1) into 2 groups: autogenous bone graft control and B2A-granule. Primary outcome measures at 6 months (with follow-up at 9 and 12 months) included radiographic fusion assessed by computerized tomography and Ankle Osteoarthritis Scale scores for pain and disability. Results: Radiographic fusion success rates were similar in both groups (100% in the B2A-granule group, 92% autograft). Both the B2A-granule group and the autograft group had improvements in the pain and disability scores over the course of the study. Graft harvest-site pain affected only autograft-treated patients. There were no adverse events attributed to the graft material in either the B2A-granule or autograft group. Conclusion: The results of this pilot study are supportive of a larger clinical trial to assess the safety and efficacy of B2A-granule as a bone graft substitute in foot and ankle fusions. Level of Evidence: Level II, prospective comparative study.
Real-time sleep detection and warning system to ensure driver's safety based on EEG

A Real-Time Sleep Detection and Warning System for Driver's Safety Based on EEG is proposed and implemented to ensure the safety for the drivers and pilots. This system is implemented to estimate and measure the driver attention, the percentage of oxygen in the blood of the driver and to check if driver is failing a sleep. The design and implementation of oxygen saturation sensor is also provided. In addition this system contains a Real time vital signs monitoring system to measure the vital signs values. The proposed system achieved an Accuracy of 96.3%, 100% of sensitivity, 92.4% of Predictability and 93% Specificity. The accuracy, predictability and specificity of the vital signs monitoring system is increased by 2%, 3% and 1%, respectively.
Induction of rhythm abnormalities in the fetal rat heart. A tentative mechanism for the embryotoxic effect of the class III antiarrhythmic agent almokalant.

OBJECTIVES The aim was to test the hypothesis that the recently reported embryotoxic effect of class III antiarrhythmic agents may be a result of electrophysiological disturbances induced by these agents. METHODS Comparative studies of drug effects in the adult and fetal rat were performed using three experimental models: (1) effects of almokalant upon pregnancy and fetal mortality in rats given daily doses of 0, 10, 50, 100, or 400 mumol.kg-1 orally in the diet on days 6-15 of pregnancy; (2) effects of d-sotalol (1-1000 microM), almokalant (0.1-100 microM) and dofetilide (0.01-10 microM) on the adult and fetal cardiac action potential in vitro; (3) voltage clamp recordings in single fetal and adult ventricular myocytes superfused with almokalant (0.5 microM). RESULTS In the groups of rats treated with 100 and 400 mumol.kg-1, respectively, the body weight gain was decreased from day 12 of gestation, and there were no viable fetuses at termination of pregnancy. In atrial as well as ventricular tissue, the class III agents induced a concentration dependent prolongation of the fetal action potential duration, accompanied by a reduction in heart rate and eventually the appearance of rhythm abnormalities and/or early afterdepolarisations. The adult action potential duration remained unaffected. An almokalant sensitive current (probably the delayed rectifier, IK) could be evoked both in the fetal and in the adult ventricular cells. CONCLUSIONS Class III antiarrhythmic agents were shown to induce fetal mortality and rhythm abnormalities in the rat heart. Although they do not prove a causal relationship between these effects, our observations may have implications for the clinical use of class III antiarrhythmic agents in women of childbearing potential.
User Interfaces to the Web of Data based on Natural Language Generation

We explore how Virtual Research Environments based on Semantic Web technologies support research interactions with RDF data in various stages of corpus-based analysis, analyze the Web of Data in terms of human readability, derive labels from variables in SPARQL queries, apply Natural Language Generation to improve user interfaces to the Web of Data by verbalizing SPARQL queries and RDF graphs, and present a method to automatically induce RDF graph verbalization templates via distant supervision.
B Cell Intrinsic MyD88 Signals Drive IFN-γ Production from T Cells and Control Switching to IgG2c1

The question of whether Ab responses to T-dependent Ags require B cell intrinsic signaling via the main TLR adaptor (MyD88) has become embroiled in confusion. In part this may be related to the methods used to analyze B cell intrinsic signaling. We have used a mixed bone marrow chimera model to generate mice in which the B cell compartment is completely deficient in MyD88 expression, while the other hematopoietic lineages are largely normal. These mice were immunized with T-dependent Ags or infected with Salmonella. We found that the Ag-specific IgG2c primary response was absolutely dependent on MyD88 signaling to B cells, while other Ig classes were not (IgG1 and IgG3) or much less so (IgG2b, IgA). The MyD88B−/− chimeric mice exhibited an impairment of development of IFN-γ effector T cells, a likely contributory factor in the lack of IgG2c. We also found that B cell intrinsic MyD88 signals are required for the production of natural Abs. The data emphasize the nonredundant role of B cells as programmers of T cell differentiation in vivo.
Health Consequences of Alzheimer’s Caregiving Transitions: Effects of Placement and Bereavement

Objective To determine the extent to which the chronic stress of Alzheimer’s disease caregiving may be alleviated by placement or death of the Alzheimer’s disease patient, we prospectively compared groups of caregivers (CG) who continued to care for their Alzheimer’s disease spouse at home, CG who placed their spouses, and CG whose spouses died with similarly aged noncaregiving comparison subjects (control subjects). Methods A sample of 119 CG who had been studied for at least 18 months at 6-month intervals was included in the present analyses (ie, had at least three assessments). Data were gathered on CG mood, blood pressure, and medical symptoms among 38 CG whose spouses were at home at all three visits (home-home-home [HHH]); 28 CG who placed their spouse at follow-up (home-placed-placed [HPP]); 27 CG whose spouses were placed and subsequently died at follow-up (home-placed-deceased [HPD]); and 26 CG whose spouses died at home (home-deceased-deceased [HDD]). Data were compared with 48 noncaregiving control subjects (NC group). Results CG in the HPP, HPD, and HDD groups showed improvement in depressive and physical symptoms compared with HHH and NCs. CG had significantly higher systolic blood pressure at rest than did NCs. Both placement and death of the Alzheimer’s disease spouse were associated with higher systolic blood pressure in response to postural challenge in CG experiencing these transitions. Conclusions Despite improvement seen in mood and medical symptoms among CG who place their spouses or experience the spouse’s death, there may be longer term physiological alterations, possibly in sympathoadrenalmedullary arousal, that cause the cardiovascular system to continue to respond to acute stressors such as postural challenge more actively for a period of 6 to 12 months after such transitions.
Pursuit Reinforcement Competitive Learning: PRCL based Online Clustering with Learning Automata

A new online clustering method based on not only reinforcement and competitive learning but also pursuit algorithm (Pursuit Reinforcement Competitive Learning: PRCL) as well as learning automata is proposed for reaching a relatively stable clustering solution in comparatively short time duration. UCI repository data which are widely used for evaluation of clustering performance in usual is used for a comparative study among the existing conventional online clustering methods of Reinforcement Guided Competitive Learning: RGCL, Sustained RGCL: SRGCL, Vector Quantization, and the proposed PRCL. The results show that the clustering accuracy of the proposed method is superior to the conventional methods. More importantly, it is found that the proposed PRCL is much faster than the conventional methods. The proposed method is then applied to the evacuation simulation study. It is found that the proposed method is much faster than the conventional method of vector quatization to find the most appropriate evacuation route. Due to the fact that the proposed PRCL method allows finding the most appropriate evacuation route, collisions among peoples who have to evacuate for the proposed method is much less than that of vector quatization.
Tax Policy with Quasi-Geometric Discounting

We study the effects of tazation in a model with a representative agent with time Inconsistent preferences: discounting is quasi-geometric. Utility is derived from Consumption and leisure, and tazation can be based on consumption and investmentc Spending as well as on capital and labor income. The model allows for closed form Solutions, and welfare comparisons can be made across taxation systems. Optimal taxation analysis in this model leads to time inconsistency issues for the government, assuming that the government shares the consumer's preferences and Cannot commit to future taxes. We study time-consistent policy equilibria for Different tax constitutions. A tax constitution specifies what tax instruments are Available, and we assume that the government can commit to a tax constitution. The Results show that a constitution leaving the government with no ability to tax results in Strictly higher welfare than one where the government has full freedom to tax. Indeed, for some parameter values, the best tax constitution of all is laissez faire (even though the government is benevolent and fully rational). For other parameter values, it may be optimal to allow the government to use a less than fully restricted set of tax bases. [D6,E6,H2]