Miracle-dz/UniFAR-FTUs huggingface dataset:
The search for epilepsies ideal for clinical and molecular genetic studies

The first step in localizing the chromosomal site of specific epilepsies is to define their pattern of inheritance. This determination is now being carried out for benign juvenile myoclonic epilepsy; fifty multigenerational families are being studied in three separate epilepsy programs in Los Angeles, Winston‐Salem, NC, and Berlin. Concurrent with these studies, investigators are combining the principles of classic linkage analysis, using 30 protein markers, with the use of restriction‐fragment‐length polymorphisms to determine the chromosomal location of juvenile myoclonic epilepsy. Two problems appear formidable, however. First, since the chromosomal location of specific epilepsies is unknown, the entire human genome must be screened. Second, once the location of a specific epilepsy gene is narrowed down to a region of 106 base pairs, the problem of identifying the actual molecular defect is difficult, especially if we have no assay or method to show that a given gene is culpable for producing epilepsy. An approach more likely to succeed is to use as markers the DNA fragments of proteins that are suspected to cause the disease in experimental models of genetic epilepsies; for example, the γ‐aminobutyric acid receptor genes, which are suspected to cause myoclonic epilepsy in experimental animals, can be tested in benign juvenile myoclonic epilepsy. At the same time, other marker proteins could be used to locate the chromosomal site of other specific epilepsies. Once the chromosomal site is determined, recombinant DNA technology will permit the measurement of the precise arrangement of the genes for these restriction‐fragment‐length polymorphisms and protein markers at a given locus of a chromosome.
On search space and search data strategies in image registration

Image registration is the process of determining the correspondence between all points in two or more images of the same scene. Image registration requires intensive computational effort. For high accuracy, robustness as well as low computational cost, a suitable similarity metric and reduction in search data and search space is required. In this paper, we look into subimage selection as reduction in search data strategy. We compare the reliability of mutual information, correlation coefficient and sum of absolute differences as similarity metrics using this search data strategy. We propose a measure, called alignability, which shows the ability of a subimage to provide reliable registration results, using mutual information as similarity metric. We also investigate alternative selection methods, such as entropy and gradient. We further investigate the effect of bin size on mutual information. A search space strategy using gradient techniques to maximize mutual information and our first results are also presented.
Predicting Seated Body Shape from Standing Body Shape

A large amount of body surface scan data in standing postures is available from population surveys, but relatively little data in supported seated postures has been gathered. This paper presents a method for predicting seated body shape in a posture typical of automobile driving using data from a standing scan. A principal component analysis (PCA) of template-fitted standing data for 120 women was conducted and 60 PCs were retained. Data for the same women in a seated posture were analyzed using the same technique. A regression analysis was conducted predicting seated PC scores from standing PC scores and the method was evaluated by comparing predicted and measured body shapes for 18 women with a wide range of body size measured in a separate study. The method was found to produce accurate predictions of surface shape, with median errors less than 5 mm after accounting for posture differences. The method shows promise for obtaining predictions of alternative postures for populations for which only a few postures have been scanned.
Human factors in industrial and logistic system design

Organized by: Fabio Sgarbossa (University of Padua, Italy) fabio.sgarbossa@unipd.it Daria Battini (University of Padua, Italy) daria.battini@unipd.it Christoph Glock (Technische Universität Darmstadt, Germany) glock@bwl.tu‐darmstadt.de Eric Grosse (Technische Universität Darmstadt, Germany) grosse@bwl.tu‐darmstadt.de Despite the opportunities the automatization of industrial and logistic systems offers, many companies still rely on human work and manual materials handling in many areas. Most planning models that have been proposed in the past to support managerial decision making in industrial and logistic systems have neglected the specific characteristics of human workers, which often led to unrealistic planning outcomes. In order to guarantee a high level of productivity and efficiency and to make sure that decision support models reflect reality as good as possible, it is necessary to consider human factors in addition to economical aspects in designing industrial systems. There seems to be a large gap in the literature concerning the integration of human factors into decision support models for industrial and logistic systems as well as regarding the analysis of the impact of system design parameters on the operators. Generally, human factors (perceptual, mental, physical and psychosocial aspects) determine the performance of industrial and logistic systems to a large extent if human operators are employed. This aspect becomes more challenging in light of demographic changes, which will likely put human factor‐related issues in logistics – such as the risk of developing musculoskeletal disorders in labor‐intensive work environments, for example – on top of the agendas in many companies. In addition, the consequences of using innovative technical solutions to support industrial and logistics processes, such as augmented reality or motion capture is not yet fully understood in light of human performance and errors. This session aims at investigating the development of innovative approaches for the integration of human factors in industrial and logistic system design. The main topics should concern analytical models, quantitative approaches and simulation studies, but also qualitative approaches that give insights into behavioral issues and the interactions of humans and new technologies in industrial and logistic systems. Topics may include, but are not limited to: ‐ Ergonomics in operations and logistics management ‐ Learning and forgetting aspects in industrial systems ‐ Error‐free systems ‐ Reduction of injury risks in manual operations ‐ Demographic change in industrial systems Best Regards, Fabio Sgarbossa, Daria Battini, Christoph Glock, Eric Grosse CONFIDENTIAL. Limited circulation. For review only.
An Efficient Cluster Authentication Scheme Based on VANET Environment in M2M Application

Wireless and mobile sensor network technologies in M2M (machine to machine) are rapidly applied to our real life. Thus, in near future, advanced wireless and mobile sensor network in M2M application will be major key factor of the future generation convergence network which is based on the state of the application. It is expected that smart machines will appear as new business service model with other machines. Most numerous researches within M2M sectors are carried out in intelligent vehicle sector integrated with IT technology. Intelligent vehicle section shows severe changes in position between vehicles and has numerous large scales of networks in its components; therefore, it is required to provide safety by exchanging information between vehicles equipped with wireless communication function via VANET (vehicular ad hoc network) and fixed apparatus at roadside regarding the status of road. In this paper, we proposed cluster authentication scheme that mutually authenticates between vehicles by composing vehicle movement as cluster configuration architecture. We have successfully included the establishment of secure channels, the detection of replay attacks, mutual cluster authentication, prevention of vehicle identity fabrication, and secure distribution of provisional session key.
A BRIEF COMMUNICATION

The main barrier to a broader clinical application of umbilical cord blood (UCB) transplantation is its limiting cellular content. Thus, the discovery of hematopoietic progenitor cells in murine placental tissue led us investigate whether the human placenta contains hematopoietic cells, sites of hematopoiesis, and to develop a procedure of processing and storing placental hematopoietic cells for transplantation. Here we show that the human placenta contains large numbers of CD34-expressing hematopoietic cells, with the potential to provide a cellular yield several-fold greater than that of a typical UCB harvest. Cells from fresh or cryopreserved placental tissue generated erythroid and myeloid colonies in culture, and also produced lymphoid cells after transplantation in immunodeficient mice. These results suggest that human placenta could become an important new source of hematopoietic cells for allogeneic transplantation.
Desulfurella amilsii sp. nov., a novel acidotolerant sulfur-respiring bacterium isolated from acidic river sediments.

A novel acidotolerant and moderately thermophilic sulfur-reducing bacterium was isolated from sediments of the Tinto River (Spain), an extremely acidic environment. Strain TR1T stained Gram-negative, and was obligately anaerobic, non-spore-forming and motile. Cells were short rods (1.5-2 × 0.5-0.7 μm), appearing singly or in pairs. Strain TR1T was catalase-negative and slightly oxidase-positive. Urease activity and indole formation were absent, but gelatin hydrolysis was present. Growth was observed at 20-52 °C with an optimum close to 50 °C, and a pH range of 3-7 with optimum between pH 6 and 6.5. Yeast extract was essential for growth, but extra vitamins were not required. In the presence of sulfur, strain TR1T grew with acetate, formate, lactate, pyruvate, stearate, arginine and H2/CO2. All substrates were completely oxidized and H2S and CO2 were the only metabolic products detected. Besides elemental sulfur, thiosulfate was used as an electron acceptor. The isolate also grew by disproportionation of elemental sulfur. The predominant cellular fatty acids were saturated components: C16 : 0, anteiso-C17 : 0 and C18 : 0. The only quinone component detected was menaquinone MK-7(H2). The G+C content of the genomic DNA was 34 mol%. The isolate is affiliated to the genus Desulfurella of the class Deltaproteobacteria, sharing 97 % 16S rRNA gene sequence similarity with the four species described in the genus Desulfurella. Considering the distinct physiological and phylogenetic characteristics, strain TR1T represents a novel species within the genus Desulfurella, for which the name Desulfurella amilsii sp. nov. is proposed. The type strain is TR1T ( = DSM 29984T = JCM 30680T).
Acidic hyaluronidase activity is present in mouse sperm and is reduced in the absence of SPAM1: Evidence for a role for hyaluronidase 3 in mouse and human sperm

The molecular mechanisms underlying sperm penetration of the physical barriers surrounding the oocyte have not been completely delineated. Although neutral‐active or “reproductive” hyaluronidases (hyases), exemplified by Sperm Adhesion Molecule 1 (SPAM1), are thought to be responsible for hyaluronan digestion in the egg vestments and for sperm‐zona binding, their roles in mouse sperm have been recently questioned. Here we report that acidic “somatic” Hyaluronidase 3 (HYAL3), a homolog of SPAM1 with 74.6% structural similarity, exists in two isoforms in human (∼47 and ∼55 kDa) and mouse (∼44 and ∼47 kDa) sperm, where it resides on the plasma membrane over the head and midpiece. Mouse isoforms are differentially distributed in the soluble (SAP), membrane (MBP), and acrosome‐reacted (AR) fraction where they are most abundant. Comparisons of zymography of Hyal3 null and wild‐type (WT) AR and MBP fractions show significant HYAL3 activity at pH 3 and 4, and less at pH 7. At pH 4, a second acid‐active hyase band at ∼57 kDa is present in the AR fraction. HYAL3 activity was confirmed using immunoprecipitated HYAL3 and spectrophotometry. In total proteins, hyase activity was higher at pH 6 than at 4, where Spam1 nulls had significantly (P < 0.01) diminished activity implicating an acidic optima for murine SPAM1. Although fully fertile, Hyal3 null sperm showed delayed cumulus penetration and reduced acrosomal exocytosis. HYAL3 is expressed in epididymal tissue/fluid, from where it is acquired by caudal mouse sperm in vitro. Our results reveal concerted activity of both neutral‐ and acid‐active hyaluronidases in sperm. Mol. Reprod. Dev. 77: 759–772, 2010. © 2010 Wiley‐Liss, Inc.
Impact of two pulmonary enteral formulations on nutritional indices and outcomes.

BACKGROUND Enteral nutrition formulas enriched with eicosapentaenoic acid (EPA) and gamma-linolenic acid (GLA) may modulate inflammatory processes and improve outcomes in mechanically-ventilated patients with respiratory failure. The present study aimed to determine whether there were differences in nutritional indices (protein intake, energy intake, fat intake) and outcomes [days on mechanical ventilation, days in the intensive care unit (ICU)] between mechanically-ventilated subjects who received a standard pulmonary enteral formula compared to those who received an EPA/GLA enriched pulmonary enteral formula. METHODS Data on 50 adult subjects who were admitted to an ICU in a community hospital who required both mechanical ventilation and enteral nutrition support were collected (n = 19 in the standard enteral formula group; n = 31 in the EPA/GLA-enriched enteral formula group). The present study involved both retrospective and prospective data. RESULTS Subjects who were provided the EPA/GLA enriched enteral formula received significantly more enteral formula volume (P = 0.011), total fat (P < 0.0005) and total energy (P = 0.017) than subjects who were provided the standard enteral formula. When controlling for the effects of enteral formula volume, total fat intake and total energy intake as confounding variables, there were no significant differences between the enteral formula groups in ICU days (P = 0.440) or hours spent on mechanical ventilation (P = 0.410). CONCLUSIONS The use of a specialised pulmonary enteral formulation did not result in any statistically significant effects on ICU days and hours on mechanical ventilation. Subjects who were on the specialised formula did receive more enteral formula volume and more total energy intake, which may be clinically important. Further clinical studies are needed to address the impact that a specialised pulmonary enteral formula has on ICU stay and ventilator hours.
A Novel Serum Protein Similar to C1q, Produced Exclusively in Adipocytes (*)

We describe a novel 30-kDa secretory protein, Acrp30 (adipocyte complement-related protein of 30 kDa), that is made exclusively in adipocytes and whose mRNA is induced over 100-fold during adipocyte differentiation. Acrp30 is structurally similar to complement factor C1q and to a hibernation-specific protein isolated from the plasma of Siberian chipmunks; it forms large homo-oligomers that undergo a series of post-translational modifications. Like adipsin, secretion of Acrp30 is enhanced by insulin, and Acrp30 is an abundant serum protein. Acrp30 may be a factor that participates in the delicately balanced system of energy homeostasis involving food intake and carbohydrate and lipid catabolism. Our experiments also further corroborate the existence of an insulin-regulated secretory pathway in adipocytes.
Students’ Views on the Use of Real Patients and Simulated Patients in Undergraduate Medical Education

Purpose To determine students’ views about the strengths and weaknesses of real patient interactions as opposed to simulated patient (SP) interactions in the undergraduate medical curriculum in order to evaluate how their strengths can be optimally used and weaknesses remedied. Method Five focus-group interviews were conducted among fourth- and fifth-year medical students at Maastricht University in 2007, using a preestablished interview guide. The interviews were recorded, transcribed, and analyzed using qualitative methods. Results In general, the 38 participants considered real patient encounters more instructive and more authentic than SP encounters. However, students identified several strengths of SP encounters compared with real patient encounters. For example, SP interactions were helpful in preparing students for real patient interactions (particularly with regard to communication skills and self-confidence), in the teaching of “intimate” physical examination skills, such as gynecological examination skills, and in giving constructive feedback on communication skills. In contrast to what we had anticipated, taking a time-out was considered easier in real patient interactions. Conclusions Both real patient interactions and SP interactions are considered indispensable to undergraduate medical education. Each encounter has unique strengths and weaknesses from the perspectives of students. On the basis of strengths and weaknesses that were identified, suggestions were made for the use of real patients and SPs in undergraduate medical education.
A new method for high frame-rate and high quality medical imaging

Contrast resolution and detail resolution are two key measures of ultrasound diagnostic image quality. Besides high imaging quality, the frame-rate is another important factor for research on tissue motion mechanism and diagnosis of pathological changes. In this paper, based on the principles of phased ultrasound beamforming, we introduce a new method which can not only improve frame-rate but also enhance image quality. Mainlobe width controlling and sidelobes suppressing are employed to improve image resolution, fewer and wider transmit beams combined with four parallel receive beams is used to increase the frame-rate by a factor of four. Simulation results demonstrate that the image quality using this method is much better than conventional beamformed image of wired targets, such as Hanning Window weighting and Rectangle Window weighting. This method also has the advantages of possibility of real time implementation.
Repeated prevalence investigations on nosocomial infections for continuous surveillance.

In order to obtain an overview for the planning of further infection control activities, nine repeated prevalence studies were performed at monthly intervals. These occurred in the surgical units of eight medium-sized German hospitals. A total of 4984 surgical patients were investigated, the number of patients observed in each hospital varied from 365 to 913 patients, an average of 69.2 patients per prevalence study per hospital. A total of 212 nosocomial infections were found, the majority being surgical site (43.9%) and urinary tract infection (33.0%). The overall prevalence rate was 4.0%. More than four repeated investigations had only a minor influence on the 95% confidence intervals, and a follow-up of late microbiological reports increased the prevalence rate by only 7.5%. However, it was very useful to record the presence of urinary catheters on the prevalence day and also the preceding days; for instance, a device-associated prevalence of 7.8 urinary tract infections per 100 patients with urinary catheters was found on the day of investigation. In order to evaluate the situation in one's own surgical department by prevalence studies and for reasons of cost-effectiveness, the workload can be limited to four repeated studies in most hospitals. A further follow-up of later microbiological reports is not recommended, and it seems useful to concentrate on patients with indwelling devices.
Overview: Technical Workshop on Human Milk Surveillance and Biomonitoring for Environmental Chemicals in the United States

Judy S. LaKind, Cheston M. Berlin, Jr., Michael N. Bates LaKind Associates, LLC, Catonsville, Maryland, and, Department of Pediatrics, Milton S. Hershey Medical Center, Pennsylvania State University College of Medicine, Hershey, Pennsylvania, USA 2Department of Pediatrics, Milton S. Hershey Medical Center, Pennsylvania State University College of Medicine, Hershey, Pennsylvania, USA 3Division of Environmental Health Sciences, School of Public Health, University of California, Berkeley, California, USA
IN WHICH PATIENTS WILL PERFORMING AN ORAL GLUCOSE TOLERANCE TEST YIELD THE HIGHEST RATE OF POSITIVE RESULTS?

Abstract Aim: To determine a valid numerical score according to the present risk factors for the prediction of impaired glucose tolerance in our patients. Materials and Methods: A total of 502 cases (340 females, 162 males; mean age: 48.3 ± 10.3) without overt diabetes aged over 20, whose fasting plasma glucose level were below 126 mg/dl were included in this study. After fasting blood samples were drawn, a 2-h oral glucose tolerance test was performed. Bivariate and multivariate analyses were performed to obtain a numerical score for predicting impaired glucose tolerance using risk factors such as age, sex, positive family history for diabetes, body mass index, waist circumference, blood pressure, triglycerides, HDL cholesterol, and fasting plasma glucose. Results: According to the 2-h plasma glucose levels, impaired glucose tolerance was detected in 96 of the patients, and diabetes was detected in 5 patients, while the remaining 401 patients had normal glycaemic values. Age (≥50), hypertension, high triglycerides, large waist, body mass index ≥ 25 kg/m2, and a fasting plasma glucose level of 100-109 mg/dl, or 110-125 mg/dl were associated with an impaired glucose tolerance (p<0.05). In a 8-point scale formed using these 6 parameters, a score of ≥ 6 could predict impaired glucose tolerance with a specificity of 99% and positive predictive value of 63%. Conclusion: A numerical score that could be used to predict impaired glucose tolerance in our patients has been proposed with this study.
Identification of Novel Potentially Toxic Oligomers Formed in Vitro from Mammalian-derived Expanded huntingtin Exon-1 Protein*

Huntington disease is a genetic neurodegenerative disorder that arises from an expanded polyglutamine region in the N terminus of the HD gene product, huntingtin. Protein inclusions comprised of N-terminal fragments of mutant huntingtin are a characteristic feature of disease, though are likely to play a protective role rather than a causative one in neurodegeneration. Soluble oligomeric assemblies of huntingtin formed early in the aggregation process are candidate toxic species in HD. In the present study, we established an in vitro system to generate recombinant huntingtin in mammalian cells. Using both denaturing and native gel analysis, we have identified novel oligomeric forms of mammalian-derived expanded huntingtin exon-1 N-terminal fragment. These species are transient and were not previously detected using bacterially expressed exon-1 protein. Importantly, these species are recognized by 3B5H10, an antibody that recognizes a two-stranded hairpin conformation of expanded polyglutamine believed to be associated with a toxic form of huntingtin. Interestingly, comparable oligomeric species were not observed for expanded huntingtin shortstop, a 117-amino acid fragment of huntingtin shown previously in mammalian cell lines and transgenic mice, and here in primary cortical neurons, to be non-toxic. Further, we demonstrate that expanded huntingtin shortstop has a reduced ability to form amyloid-like fibrils characteristic of the aggregation pathway for toxic expanded polyglutamine proteins. Taken together, these data provide a possible candidate toxic species in HD. In addition, these studies demonstrate the fundamental differences in early aggregation events between mutant huntingtin exon-1 and shortstop proteins that may underlie the differences in toxicity.