Miracle-dz/UniFAR-FTUs huggingface dataset:
Trichorhinophalangeal syndrome with low expression of TRPS1 on epidermal and hair follicle epithelial cells

Trichorhinophalangeal syndrome (TRPS) is an autosomal‐dominant congenital hair loss disease characterized by sparse and slow‐growing scalp hair, craniofacial and skeletal abnormalities, pear‐shaped nose, thin upper lip, brittle and thin toenails, and bilateral brachydactyly of the big toes. We report a case of TRPS1 exhibiting these clinical features with a novel heterozygous single nucleotide substitution in exon 3 of the TRPS1 gene. By immunohistochemical analysis of a biopsied specimen of the patient's alopecia lesion, we found for the first time that the expression level of TRPS1 was markedly reduced in the epidermis and the outer root sheath of hair follicles as compared to a normal subject. In addition, higher expression of phospho‐Stat3 was found consequent to the loss of TRPS1 in the outer root sheath.
The influence of sacral nerve stimulation on anorectal dysfunction

Aim Sacral nerve stimulation (SNS) has become an established option in the management of defaecatory disorders. There are many data on the end‐organ effects of SNS, but limited consensus on its mechanism of action. The objective of this review was to determine the effect of sacral nerve stimulation (SNS) on anorectal function.
Informal caregiving and intimate relationships: the experiences of spouses of UK military personnel

Aim Currently, there is no research available on the experiences of spouses providing informal care to wounded, injured or sick (WIS) UK military personnel. The aim of this study was to fill this gap by investigating the relationship experiences of non-military partners caring for WIS UK military personnel. Methods Spouses of WIS military personnel (n=25) completed telephone interviews with the research team. The data were transcribed and analysed using thematic analysis. The transcripts were cross-coded and checked for inter-rater reliability. Results Six major themes were identified: (1) communication between couples, (2) adverse family environment, (3) reintegration, (4) intimacy, (5) financial uncertainty and (6) transition from partner to caregiver. Conclusions Partners caring for injured/ill military personnel appear to be at risk of experiencing personal distress caused by impaired relationship functioning, which may lead to diminished physical and mental well-being. Partners of WIS military personnel experience significant levels of distress and burden associated with caregiving in the form of arguments with the military partner, problems in reintegration and a lack of physical and emotional intimacy.
Does young adult suicide cluster geographically in Scotland?

Background: Suicide rose dramatically among young adults in Scotland between 1980–1982 and 1999–2001, especially among those living in deprived areas. Objective: To determine whether there are statistically significant geographical clusters of suicide and undetermined deaths among those aged 15 to 44 years in Scotland, and whether these persist through time. Methods: Deaths from suicide and undetermined causes by young adults in Scotland for three periods—1980 to 1982, 1990 to 1992, and 1999 to 2001—were aggregated into 10 058 small areas for Scotland. Tests for significant (p<0.05) geographical clustering of suicide were carried out for each period separately. Methods of suicide inside the identified clusters were compared with those in the rest of Scotland. Results: A significant geographical cluster of suicide among young adults was identified in east Glasgow in all three time periods (involving 92, 159, and 245 cases). Compared with the rest of Scotland, significantly more deaths in these clusters were caused by poisoning from liquids or solids over the entire period, but this was not the case in the most recent period (1999 to 2001). All three clusters could be explained by the concentration of socioeconomic deprivation in this part of Scotland. Conclusions: One interpretation of this large, persistent, and statistically significant cluster of suicides among young adults in east Glasgow is that suicide is geographically contagious, but the present results suggest that it is explained by the concentration of deprivation in this area. Suicide prevention strategies targeting at-risk populations living in east Glasgow are necessary to reduce the suicide burden in Scotland.
Specific TonB-ExbB-ExbD energy transduction systems required for ferric enterobactin acquisition in Campylobacter.

Ferric enterobactin (FeEnt) acquisition plays a critical role in the pathophysiology of Campylobacter, the leading bacterial cause of human gastroenteritis in industrialized countries. In Campylobacter, the surface-exposed receptor, CfrA or CfrB, functions as a 'gatekeeper' for initial binding of FeEnt. Subsequent transport across the outer membrane is energized by TonB-ExbB-ExbD energy transduction systems. Although there are up to three TonB-ExbB-ExbD systems in Campylobacter, the cognate components of TonB-ExbB-ExbD for FeEnt acquisition are still largely unknown. In this study, we addressed this issue using complementary molecular approaches: comparative genomic analysis, random transposon mutagenesis and site-directed mutagenesis in two representative C. jejuni strains, NCTC 11168 and 81-176. We demonstrated that CfrB could interact with either TonB2 or TonB3 for efficient Ent-mediated iron acquisition. However, TonB3 is a dominant player in the CfrA-dependent pathway. The ExbB2 and ExbD2 components were essential for both CfrA- and CfrB-dependent FeEnt acquisition. Sequences analysis identified potential TonB boxes in CfrA and CfrB, and the corresponding binding sites in TonB. In conclusion, these findings identify specific TonB-ExbB-ExbD energy transduction components required for FeEnt acquisition, and provide insights into the complex molecular interactions of FeEnt acquisition systems in Campylobacter.
Exercise‐induced behavioral recovery and neuroplasticity in the 1‐methyl‐4‐phenyl‐1,2,3,6‐tetrahydropyridine‐lesioned mouse basal ganglia

Physical activity has been shown to be neuroprotective in lesions affecting the basal ganglia. Using a treadmill exercise paradigm, we investigated the effect of exercise on neurorestoration. The 1‐methyl‐4‐phenyl‐1,2,3,6‐tetrahydropyridine (MPTP)‐lesioned mouse model provides a means to investigate the effect of exercise on neurorestoration because 30–40% of nigrostriatal dopaminergic neurons survive MPTP lesioning and may provide a template for neurorestoration to occur. MPTP‐lesioned C57 BL/6J mice were administered MPTP (four injections of 20 mg/kg free‐base, 2 hr apart) or saline and divided into the following groups: (1) saline; (2) saline + exercise; (3) MPTP; and (4) MPTP + exercise. Mice in exercise groups were run on a motorized treadmill for 30 days starting 4 days after MPTP lesioning (a period after which MPTP‐induced cell death is complete). Initially, MPTP‐lesioned + exercise mice ran at slower speeds for a shorter amount of time compared to saline + exercise mice. Both velocity and endurance improved in the MPTP + exercise group to near normal levels over the 30‐day exercise period. The expression of proteins and genes involved in basal ganglia function including the dopamine transporter (DAT), tyrosine hydroxylase (TH), and the dopamine D1 and D2 receptors, as well as alterations on glutamate immunolabeling were determined. Exercise resulted in a significant downregulation of striatal DAT in the MPTP + exercise compared to MPTP nonexercised mice and to a lesser extent in the saline + exercised mice compared to their no‐exercise counterparts. There was no significant difference in TH protein levels between MPTP and MPTP + exercise groups at the end of the study. The expression of striatal dopamine D1 and D2 receptor mRNA transcript was suppressed in the saline + exercise group; however, dopamine D2 transcript expression was increased in the MPTP + exercise mice. Immunoelectron microscopy indicated that treadmill exercise reversed the lesioned‐induced increase in nerve terminal glutamate immunolabeling seen after MPTP administration. Our data demonstrates that exercise promotes behavioral recovery in the injured brain by modulating genes and proteins important to basal ganglia function. © 2004 Wiley‐Liss, Inc.
Metaphoric Hand Gestures for Orientation-Aware VR Object Manipulation With an Egocentric Viewpoint

We present a novel natural user interface framework, called Meta-Gesture, for selecting and manipulating rotatable virtual reality (VR) objects in egocentric viewpoint. Meta-Gesture uses the gestures of holding and manipulating the tools of daily use. Specifically, the holding gesture is used to summon a virtual object into the palm, and the manipulating gesture to trigger the function of the summoned virtual tool. Our contributions are broadly threefold: 1) Meta-Gesture is the first to perform bare hand-gesture-based orientation-aware selection and manipulation of very small (nail-sized) VR objects, which has become possible by combining a stable 3-D palm pose estimator (publicly available) with the proposed static-dynamic (SD) gesture estimator; 2) the proposed novel SD random forest, as an SD gesture estimator can classify a 3-D static gesture and its action status hierarchically, in a single classifier; and 3) our novel voxel coding scheme, called layered shape pattern, which is configured by calculating the fill rate of point clouds (raw source of data) in each voxel on the top of the palm pose estimation, allows for dispensing with the need for preceding hand skeletal tracking or joint classification while defining a gesture. Experimental results show that the proposed method can deliver promising performance, even under frequent occlusions, during orientation-aware selection and manipulation of objects in VR space by wearing head-mounted display with an attached egocentric-depth camera (see the supplementary video available at: http://ieeexplore.ieee.org).
Statistical Prediction of Hand Force Exertion Levels in a Simulated Push Task using Posture Kinematics

This study explored the use of body posture kinematics derived from wearable inertial sensors to estimate force exertion levels in a two-handed isometric pushing and pulling task. A prediction model was developed grounded on the hypothesis that body postures predictably change depending on the magnitude of the exerted force. Five body postural angles, viz., torso flexion, pelvis flexion, lumbar flexion, hip flexion, and upper arm inclination, collected from 15 male participants performing simulated isometric pushing and pulling tasks in the laboratory were used as predictor variables in a statistical model to estimate handle height (shoulder vs. hip) and force intensity level (low vs. high). Individual anthropometric and strength measurements were also included as predictors. A Random Forest algorithm implemented in a two-stage hierarchy correctly classified 77.2% of the handle height and force intensity levels. Results represent early work in coupling unobtrusive, wearable instrumentation with statistical learning techniques to model occupational activities and exposures to biomechanical risk factors in situ.
Pro-environmental Behavior of University Students: Influence of Cultural Differences

Responsible Consumption and Production, among the Sustainable Development Goals, indicates that humans should be aware of environmental problems which are to some extent, direct or indirect consequences of their behaviors. This indicates that the question of what shapes pro-environmental behavior (PEB) is difficult to understand. There has been an increasing concern towards individuals’ PEBs both at home and in the workplace. However, although some studies have shown significant concern-behavior relationship, others have revealed that environmental concern (EC) fails to predict PEB. Thus, whether individuals with higher levels of environmental concern perform more PEB has not received robust empirical support. Drawing on the corresponding literature, concern-behavior gap can be explained by the concept of cultural environmental biases. This study aims to test how cultural biases shape PEB. Following the model proposal which explores the effect of cultural biases on EC and PEB, a 42-item questionnaire has been developed and applied with the university students as they are expected to be the most informed and aware people about environmental issues. The findings are expected to deepen the understanding of concern-behavior relationship and cultural environmental biases as well as provide new insights for sustainable development practices. Keywords: pro-environmental behavior, environmental concern, cultural environmental biases, sustainable development goals
Analysis of Demanding of Imported Maize in North Sumatera Province

Maize is the second source of carbohydrates after rice. Maize is currently consumed as the subtitute of rice for implementation of food diversification. Besides human, maize is also needed by poultry and mammals as feed ingredients. Increased demand of maize is not worth the supply of maize, because of the area and productivity tend to fluctuate every year. This research was conducted in 2017-2018. The purpose of this research is analyzing the price of imported maize, the pice of domestic maize in North Sumatera, the production of maize, and exchange rate that influence the volume of imported maize in North Sumatera Province. Data used in this research is time series data which is monthly data from 2013 until 2016. This research used Autoregressive Distributed Lag (ARDL) model analysis method. The results showed that imported maize price had a significant effect on corn import volume in North Sumatera Province, while maize price in North Sumatra, production, and exchange rate did not significantly affect the volume of maize import in North Sumatera Province.
Option pricing under jump-diffusion processes: calibration to the bitcoin options market

Since the seminal work of Black and Scholes (1973), most of standard literature in option pricing assumes that the underlying asset follows diffusion type process, namely a geometric Brownian motion. However, empirical evidence reveals extreme price variations. So, to incorporate rare or extreme events, not captured by diffusion models, several jump diffusion models have been introduced to the finance literature. Kou (2002) has created a double exponential jump diffusion model that explains two empirical phenomena the asymmetric leptokurtic feature and the “volatility smile”. In addition to that, Kou’ s model leads to analytical solutions to many option pricing problems. Thus, the aim of this dissertation is to study Kou’ s option pricing model. For the empirical analysis, the goal is to investigate the goodness of the Kou’ s model calibration, using the recent bitcoin options market.
Foreign Exchange Return Predictability: Rational Expectations Risk Premium vs. Expectational Errors

We propose a simple identification scheme for the causes of the violations of uncovered interest parity. Our method uses the serial dependence patterns of excess returns as a criterion for judging performance of economic models. We show that a mean reverting component in excess returns, representing a violation of uncovered interest parity, mainly contributes to generating different serial dependence patterns of excess returns: rational expectations risk premium models tend to generate negative serial dependence of excess returns, while expectational errors models tend to generate positive serial dependence.
Monetary Transmission through Shadow Banks

I find that shadow bank money creation significantly expands during monetary-tightening cycles. This “shadow banking channel” offsets reductions in commercial bank deposits and dampens the impact of monetary policy. Using a structural model of bank competition, I show that the difference in depositor clienteles quantitatively explains banks’ different responses to monetary policy. Facing a more yield-sensitive clientele, shadow banks are more likely to pass through rate hikes to depositors, thereby attracting more deposits when the Federal Reserve raises rates. My results suggest that monetary tightening could unintentionally increase financial fragility by driving deposits into the uninsured shadow banking sector. Authors have furnished an Internet Appendix, which is available on the Oxford University Press Web site next to the link to the final published paper online.
Serum cleaved tau protein levels and clinical outcome in adult patients with closed head injury.

STUDY OBJECTIVE Intracranial injuries (ICI) are associated with high mortality and morbidity. Unfortunately, tools for diagnosis and risk stratification of ICIs are limited in the emergency department setting. We determine the relationship between the presence or absence of a detectable cleaved serum tau protein (tau(c)), ICI, and outcome at hospital discharge in adults with closed head injuries (CHI). METHODS This was a prospective pilot study of adult patients with CHI presenting to the ED of an urban Level I trauma center. Patients presenting within 10 hours of a CHI who underwent a head computed tomographic (CT) scan were eligible. A blood sample was collected at presentation and the tau(c) level was measured. Initial Glasgow Coma Scale scores and demographic information were recorded. A chart review was performed to determine outcome and final readings on the initial head CT scan. RESULTS Patients were dichotomized to 1 of 2 groups, those with an ICI (n=17) and those with an isolated skull fracture or no CT abnormality (NICI) (n=11). The 2 groups were similar in regard to demographic composition, mechanism of injury, and coexisting injuries. A tau(c) level of more than 0 was associated with an increased chance of an ICI on the initial head CT scan (odds ratio 11.25; 95% confidence interval [CI] 1.17 to 108.4) and a greater chance of poor outcome, defined as death while in hospital or transfer to a nursing home at hospital discharge (odds ratio 8.17; 95% CI 1.42 to 47). CONCLUSION A tau(c) level of more than 0 is associated with a greater chance of intracranial injury and poor outcome in patients with CHI.
Intracranial haemorrhages in French haemophilia patients (1991–2001): clinical presentation, management and prognosis factors for death

Summary. Intracranial haemorrhage (ICH) is known to be a severe although uncommon complication of haemophilia. A national survey has been conducted in France in order to collect information about ICHs which occurred in haemophiliacs between 1991 and 2001 and to propose recommendations for the diagnostic and treatment of ICH. Within this period, 123 episodes of ICH were recorded from 106 patients. Two‐thirds of ICH concerned patients with severe haemophilia. Half of the cases occurred in patients under 15 years of age, 67.2% of which were post‐traumatic. Ten cases occurred in neonates with three fatal outcomes. Overall mortality was high (21.9%) suggesting that availability of clotting factor concentrates has not improved the prognosis of this event. Morbidity was also high with 60% of long‐term sequelae. The following parameters have been identified as prognostic factors for death: thrombocytopenia, HCV infection, intraventricular or intraparenchymatous haemorrhage. A delay in diagnosis was mentioned in 43.3% of cases, often related to the lack of recognition of the initial symptoms, which may be very common (apathy, tearfulness in young children and headache in elder patients). Delayed replacement therapy was recorded in 37.2% of cases. Emergency units initially dealt with half of these patients. Information concerning recognition and management of these episodes, not only in severe haemophilia, but also in moderate and mild forms, should be regularly supplied to paediatricians in maternity and physicians from emergency units, as well as to patients and their relatives.
Inducer exclusion by glucose 6‐phosphate in Escherichia coli

The main mechanism causing catabolite repression by glucose and other carbon sources transported by the phosphotransferase system (PTS) in Escherichia coli involves dephosphorylation of enzyme IIAGlc as a result of transport and phosphorylation of PTS carbohydrates. Dephosphorylation of enzyme IIAGlc leads to ‘inducer exclusion’: inhibition of transport of a number of non‐PTS carbon sources (e.g. lactose, glycerol), and reduced adenylate cyclase activity. In this paper, we show that the non‐PTS carbon source glucose 6‐phosphate can also cause inducer exclusion. Glucose 6‐phosphate was shown to cause inhibition of transport of lactose and the non‐metabolizable lactose analogue methyl‐β‐D‐thiogalactoside (TMG). Inhibition was absent in mutants that lacked enzyme IIAGlc or were insensitive to inducer exclusion because enzyme IIAGlc could not bind to the lactose carrier. Furthermore, we showed that glucose 6‐phosphate caused dephosphorylation of enzyme IIAGlc. In a mutant insensitive to enzyme IIAGlc‐mediated inducer exclusion, catabolite repression by glucose 6‐phosphate in lactose‐induced cells was much weaker than that in the wild‐type strain, showing that inducer exclusion is the most important mechanism contributing to catabolite repression in lactose‐induced cells. We discuss an expanded model of enzyme IIAGlc‐mediated catabolite repression which embodies repression by non‐ PTS carbon sources.
Physical human-robot interaction: Dependability, safety, and performance

Robots designed to share an environment with humans, such as e.g. in domestic or entertainment applications or in cooperative material-handling tasks, must fulfill different requirements from those typically met in industry. It is often the case, for instance, that accuracy requirements are less demanding. On the other hand, concerns of paramount importance are safety and dependability of the robot system. According to such difference in requirements, it can be expected that usage of conventional industrial arms for anthropic environments will be far from optimal. An approach to increase the safety level of robot arms interacting with humans consists in the introduction of compliance at the mechanical design level. In this paper we discuss the problem of achieving good performances in accuracy and promptness with a robot manipulator under the condition that safety is guaranteed throughout whole task execution. Intuitively, while a rigid and powerful structure of the arm would favor its performance, lightweight compliant structures are more suitable for safe operation. The quantitative analysis of the resulting design trade-off between safety and performance has a strong impact on how robot mechanisms and controllers should be designed for human- interactive applications. We discuss few different possible concepts for safely actuating joints, and focus on aspects related to the implementation of the mechanics and control of this new class of robots.