Miracle-dz/UniFAR-FTUs huggingface dataset:
The Interaction of Genetic Mutations in PARK2 and FA2H Causes a Novel Phenotype in a Case of Childhood-Onset Movement Disorder

Mutations in the PARK2 gene have been implicated in the pathogenesis of early-onset Parkinson's disease. We present a case of movement disorder in a 4-year-old child from consanguineous parents and with a family history of Dopamine responsive dystonia, who was diagnosed with early-onset Parkinson's disease based on initial identification of a pathogenic PARK2 mutation. However, the evolution of the child's clinical picture was unusually rapid, with a preponderance of pyramidal rather than extrapyramidal symptoms, leading to re-investigation of the case with further imaging and genetic sequencing. Interestingly, a second homozygous mutation in the FA2H gene, implicated in Hereditary spastic paraplegia, was revealed, appearing to have contributed to the novel phenotype observed, and highlighting a potential interaction between the two mutated genes.
Heterogeneity and Prior Uncertainty Investigation Using a Joint Heat and Solute Tracer Experiment in Alluvial Sediments

In heterogeneous aquifers, imaging preferential flow paths, and non-Gaussian effects is critical to reduce uncertainties in transport predictions. Common deterministic approaches relying on a singlemodel for transport prediction show limitations in capturing these processes and tend to smooth parameter distributions. Monte-Carlo simulations give one possible way to explore the uncertainty range of parameter value distributions needed for realistic predictions. Joint heat and solute tracer tests provide an innovative option for transport characterization using complementary tracer behaviors. Heat tracing adds the effect of heat advection-conduction to solute advection-dispersion. In this contribution, a joint interpretation of heat and solute tracer data sets is proposed for the alluvial aquifer of the Meuse River at the Hermalle-sous-Argenteau test site (Belgium). First, a density-viscosity dependent flow-transport model is developed and induce, due to the water viscosity changes, up to 25% change in simulated heat tracer peak times. Second, stochastic simulations with hydraulic conductivity (K) random fields are used for a global sensitivity analysis. The latter highlights the influence of spatial parameter uncertainty on the resulting breakthrough curves, stressing the need for a more realistic uncertainty quantification. This global sensitivity analysis in conjunction with principal component analysis assists to investigate the link between the prior distribution of parameters and the complexity of themeasured data set. It allows to detect approximations done by using classical inversion approaches and the need to consider realistic K-distributions. Furthermore, heat tracer transport is shown as significantly less sensitive to porosity compared to solute transport. Most proposed models are, nevertheless, not able to simultaneously simulate the complementary heat-solute tracers. Therefore, constraining the model using different observed tracer behaviors necessarily comes with the requirement to use more-advanced parameterization and more realistic spatial distribution of hydrogeological parameters. The added value of data from both tracer signals is highlighted, and their complementary behavior in conjunction with advanced model/prediction approaches shows a strong uncertainty reduction potential.
Health system modelling research: towards a whole-health-system perspective for identifying good value for money investments in health system strengthening

Global health research has typically focused on single diseases, and most economic evaluation research to date has analysed technical health interventions to identify ‘best buys’. New approaches in the conduct of economic evaluations are needed to help policymakers in choosing what may be good value (ie, greater health, distribution of health, or financial risk protection) for money (ie, per budget expenditure) investments for health system strengthening (HSS) that tend to be programmatic. We posit that these economic evaluations of HSS interventions will require developing new analytic models of health systems which recognise the dynamic connections between the different components of the health system, characterise the type and interlinks of the system’s delivery platforms; and acknowledge the multiple constraints both within and outside the health sector which limit the system’s capacity to efficiently attain its objectives. We describe priority health system modelling research areas to conduct economic evaluation of HSS interventions and ultimately identify good value for money investments in HSS.
Design and Assessment of Control Maps for Multi-Channel sEMG-Driven Prostheses and Supernumerary Limbs

Proportional and simultaneous control algorithms are considered as one of the most effective ways of mapping electromyographic signals to an artificial device. However, the applicability of these methods is limited by the high number of electromyographic features that they require to operate—typically twice as many the actuators to be controlled. Indeed, extracting many independent electromyographic signals is challenging for a number of reasons—ranging from technological to anatomical. On the contrary, the number of actively moving parts in classic prostheses or extra-limbs is often high. This paper faces this issue, by proposing and experimentally assessing a set of algorithms which are capable of proportionally and simultaneously control as many actuators as there are independent electromyographic signals available. Two sets of solutions are considered. The first uses as input electromyographic signals only, while the second adds postural measurements to the sources of information. At first, all the proposed algorithms are experimentally tested in terms of precision, efficiency, and usability on twelve able-bodied subjects, in a virtual environment. A state-of-the-art controller using twice the amount of electromyographic signals as input is adopted as benchmark. We then performed qualitative tests, where the maps are used to control a prototype of upper limb prosthesis. The device is composed of a robotic hand and a wrist implementing active prono-supination movement. Eight able-bodied subjects participated to this second round of testings. Finally, the proposed strategies were tested in exploratory experiments involving two subjects with limb loss. Results coming from the evaluations in virtual and realistic settings show encouraging results and suggest the effectiveness of the proposed approach.
Factors Affecting Profitability of Layer Hens Enterprises

Problem statement: Layer hen enterprises suffer from low profitability or losses in many of developing countries all over the world. Jordan is not an acceptance. Approach: This study aimed at investigating the influence of ten main factors affecting the profitability of layer hen producers. The investigated factors include price of purchased pullet, feed price, cost of labor, cost of veterinary service and medicine, building and machinery depreciation, repairs and maintenance and miscellaneous costs, length of production cycle, feed conversion ratio, mortality rate, egg sale price and laying percentage. Results: The study used a multiple regression profit model to estimate the effect of the above mentioned factors on profit per kg egg produced. The direction and quantity of relationship between profit per kg egg and variables affecting profit were investigated. Data from 40 operating and randomly selected egg production enterprises in the country was collected. Data was obtained directly from the producers during April to mid August 2010. Semi structured interviews were conducted with a pre-tested questionnaire. The data obtained via interview surveys were processed to calculate profit per kg egg and other relevant information for inclusion in a profit function model. Fifteen eggs are registered to be 1 kg in the study. Cost and income items used to calculate profit in the study. The results of the study revealed that the feed price was found to be the factor which has the highest negative impact on the profitability showing the coefficient-3.01. The egg sale price was with high positive impact on profitability showing the coefficient 2.633. Conclusion/Recommendations: From the results of the study it could be concluded that higher prices of purchased or breeding pullet, higher feed price, higher cost of labor, higher cost of veterinary service and medicine, higher other costs including building and machinery depreciation, repairs and maintenance and miscellaneous costs, higher feed quantity to be converted to eggs and higher mortality rate are associated with lower profitability of laying hen enterprises, while higher length of production cycle, higher egg sale price and higher laying percentage are associated with higher profitability. Critical limits indicated for various cost components should be used as a guideline to adjust budget in commercial egg operation thereby, ensuring higher net profit per bird.
Experimental assessment on feasibility of computed tomography-based thermometry for radiofrequency ablation on tissue equivalent polyacrylamide phantom

Abstract Purpose: This study aimed to evaluate the effects of various computed tomography (CT) acquisition parameters and metal artifacts on CT number measurement for CT thermometry during CT-guided thermal ablation. Methods: The effects of tube voltage (100–140 kVp), tube current (20–250 mAs), pitch (0.6–1.5) and gantry rotation time (0.5, 1.0 s) as well as metal artifacts from a radiofrequency ablation (RFA) needle on CT number were evaluated using liver tissue equivalent polyacrylamide (PAA) phantom. The correlation between CT number and temperature from 37 to 80 °C was studied on PAA phantom using optimum CT acquisition parameters. Results: No statistical significant difference (p > 0.05) was found on CT numbers under the variation of different acquisition parameters for the same temperature setting. On the other hand, the RFA needle has induced metal artifacts on the CT images of up to 8 mm. The CT numbers decreased linearly when the phantom temperature increased from 37 to 80 °C. A linear regression analysis on the CT numbers and temperature suggested that the CT thermal sensitivity was –0.521 ± 0.061 HU/°C (R2 = 0.998). Conclusion: CT thermometry is feasible for temperature assessment during RFA with the current CT technology, which produced a high CT number reproducibility and stable measurement at different CT acquisition parameters. Despite being affected by metal artifacts, the CT-based thermometry could be further developed as a tissue temperature monitoring tool during CT-guided thermal ablation.
Position sensing using integration of a vision system and inertial sensors

This paper concerns the development of a position tracking system for a hand-held tool based on the low cost sensors. The integration of a multi-camera vision system and a strapdown inertial navigation system using indirect Kalman filter (IKF) is able to compute the 3D position of a tool tip, which is the point of interest for tracking, without prior knowledge of the motion. The continuous linear and angular motion of the tool is sensed in 3D by using MEMS-based inertial sensors. At the same time, the tool is tracked by a multi-camera vision system. The multi- camera vision system includes four low cost CCD cameras, when all four cameras are configured to be placed on a curved line instead of the classical arrangement. The experimental results show that the position errors of the tool tip tracking based on the proposed vision system are decreased. Furthermore, the inertial sensors integrated with the vision system allow tracking an object with lower sampling rate than the vision system alone without loosing the accuracy.
Kinetics and Strain Specificity of Rhizosphere and Endophytic Colonization by Enteric Bacteria on Seedlings of Medicago sativa and Medicago truncatula

ABSTRACT The presence of human-pathogenic, enteric bacteria on the surface and in the interior of raw produce is a significant health concern. Several aspects of the biology of the interaction between these bacteria and alfalfa (Medicago sativa) seedlings are addressed here. A collection of enteric bacteria associated with alfalfa sprout contaminations, along with Escherichia coli K-12, Salmonella enterica serotype Typhimurium strain ATCC 14028, and an endophyte of maize, Klebsiella pneumoniae 342, were labeled with green fluorescent protein, and their abilities to colonize the rhizosphere and the interior of the plant were compared. These strains differed widely in their endophytic colonization abilities, with K. pneumoniae 342 and E. coli K-12 being the best and worst colonizers, respectively. The abilities of the pathogens were between those of K. pneumoniae 342 and E. coli K-12. All Salmonella bacteria colonized the interiors of the seedlings in high numbers with an inoculum of 102 CFU, although infection characteristics were different for each strain. For most strains, a strong correlation between endophytic colonization and rhizosphere colonization was observed. These results show significant strain specificity for plant entry by these strains. Significant colonization of lateral root cracks was observed, suggesting that this may be the site of entry into the plant for these bacteria. At low inoculum levels, a symbiosis mutant of Medicago truncatula, dmi1, was colonized in higher numbers on the rhizosphere and in the interior by a Salmonella endophyte than was the wild-type host. Endophytic entry of M. truncatula appears to occur by a mechanism independent of the symbiotic infections by Sinorhizobium meliloti or mycorrhizal fungi.
Factors associated with long-term impact on informal caregivers during Alzheimer’s disease dementia progression: 36-month results from GERAS

ABSTRACT Objective: To identify, in caregivers of patients with Alzheimer’s disease (AD) dementia, factors associated with subjective (personal, physical, emotional, and social) and objective (informal caregiver time and costs) caregiver burden. Design: Prospective longitudinal European observational study: post-hoc analysis. Setting: Clinic. Participants: Community-dwelling patients in France and Germany aged ≥ 55 years (n = 969) with probable AD and their informal caregivers. Measurements: Mini-Mental State Examination (MMSE), Alzheimer’s Disease Cooperative Study—Activities of Daily Living (ADCS-ADL), 12-item Neuropsychiatric Inventory (NPI-12), Zarit Burden Interview (ZBI), informal caregiver basic and instrumental ADL hours (Resource Utilization in Dementia instrument), and informal caregiver costs. Mixed-effect models of repeated measures (MMRM) were run, including baseline and time-dependent covariates (change from baseline [CFB] to 18 months in MMSE, ADCS-ADL, and NPI-12 scores) associated with CFB in ZBI score/informal caregiver time over 36 months (analyzed using linear regression models) and informal caregiver costs over 36 months (analyzed using generalized linear models). Results: Greater decline in patient function (ADCS-ADL) over 18 months was associated with increased subjective caregiver burden (ZBI), hours, and costs over 36 months. Increased behavioral problems (NPI-12) over 18 months also negatively impacted ZBI. Cognitive decline (MMSE) over 18 months did not affect change in caregiver burden. Conclusions: Long-term informal caregiver burden was driven by worsening functional abilities and behavioral symptoms but not cognitive decline, over 18 months in community-dwelling patients with AD dementia. Identifying the drivers of caregiver burden could highlight areas in which interventions may benefit both caregivers and patients.
Rate of brain aging and APOE ε4 are synergistic risk factors for Alzheimer’s disease

This study describes a gauge for brain aging predictive of cognitive decline and Alzheimer's disease synergistic with the APOE ε4 allele. Advanced age and the APOE ε4 allele are the two biggest risk factors for Alzheimer’s disease (AD) and declining cognitive function. We describe a universal gauge to measure molecular brain age using transcriptome analysis of four human postmortem cohorts (n = 673, ages 25–97) free of neurological disease. In a fifth cohort of older subjects with or without neurological disease (n = 438, ages 67–108), we show that subjects with brains deviating in the older direction from what would be expected based on chronological age show an increase in AD, Parkinson’s disease, and cognitive decline. Strikingly, a younger molecular age (−5 yr than chronological age) protects against AD even in the presence of APOE ε4. An established DNA methylation gauge for age correlates well with the transcriptome gauge for determination of molecular age and assigning deviations from the expected. Our results suggest that rapid brain aging and APOE ε4 are synergistic risk factors, and interventions that slow aging may substantially reduce risk of neurological disease and decline even in the presence of APOE ε4.
Memantine Rescues Neurosyphilis-Related Schizophrenic-like Features and Cognitive Deficit.

OBJECTIVES Neurosyphilis, an infectious neuroinflammatory disorder, could cause diverse neuropsychiatric symptoms mimicking disorders of schizophrenia and dementia; hence, it is known as the "chameleon of psychiatry. " Here, we present a subject with neurosyphilis with schizophrenic features and share the treatment outcome. METHODS A 42-year-old single man had schizophrenic-like features and cognitive dysfunction for 1 year. Neurosyphilis was confirmed by a cerebral spinal fluid study. The brain image revealed multiple punctuated white matter gliosis in the bilateral frontal lobes and old lacunar infarctions in the bilateral basal hippocampus. The neuropsychiatric functions were declined until adjunctive memantine therapy. RESULTS With the add-on therapy of memantine 10 mg daily, the psychotic and dementic symptoms markedly improved, and the patient recovered to the premorbid state in the 2-year follow-up course. CONCLUSIONS Memantine has an adjunctive effect on neurosyphilis-related neuropsychiatric disorder via modulation of the glutamatergic neurotransmission and microglia-induced neuroinflammation.
Factors affecting urinary continence and sexual potency recovery after robotic-assisted radical prostatectomy

ABSTRACT Introduction Robot-assisted radical prostatectomy (RARP) is the most recent surgical technique for localized prostate cancer. The Da Vinci (Intuitive Surgical, Sunnyvale, CA) system was first introduced in Brazil in 2008, with a fast growing number of surgeries performed each year. Objective Our primary endpoint is to analyze possible predictors of functional outcomes, related to patient and tumor features. As secondary endpoint, describe functional outcomes (urinary continence and sexual potency) from RARP performed in the Sírio-Libanês Hospital (SLH), a private institution, in São Paulo, from April 2008 to December 2015. Materials and Method Data from 104 consecutive patients operated by two surgeons from the SLH (MA and SA) between 2008 and 2015, with a minimum 12 months follow-up, were collected. Patient features (age, body mass index - BMI, PSA, date of surgery and sexual function), tumor features (tumor stage, Gleason and surgical margins) and follow-up data (time to reach urinary continence and sexual potency) were the variables collected at 1, 3, 6 and 12 month and every 6 months thereafter. Continence was defined as the use of no pad on medical interview and sexual potency defined as the capability for vaginal penetration with or without fosphodiesterase type 5 inhibitors. Results Mean age was 60 years old and mean BMI was 28.45 kg/m2. BMI >30kg/m2 (p<0.001) and age (p=0.011) were significant predictors for worse sexual potency after surgery. After 1, 3, 6 and 12 months, 20.7%, 45.7%, 60.9% and 71.8% from patients were potent, respectively. The urinary continence was reached in 36.5%, 80.3%, 88.6% and 92.8% after 1, 3, 6 and 12 months, respectively. Until the end of the study, only one patient was incontinent and 20.7% were impotent. Conclusion Age was a predictor of urinary and erectile function recovery in 12 months. BMI was significant factor for potency recovery. We obtained in a private hospital good functional results after 12 months of follow-up.
Lifetime prevalence and potential determinants of psychotic experiences in the general population of Qatar

Abstract Background To estimate the lifetime prevalence and potential determinants of psychotic experience(s) (PEs) in the general population of Qatar – a small non-war afflicted, conservative, high-income, middle-eastern country with recent rapid urbanization including an influx of migrants. Methods A probability-based sample (n = 1353) of non-migrants and migrants were interviewed face-to-face and administered a 7-item psychosis screener adapted from the Composite International Diagnostic Interview, the Kessler 6-item psychological distress scale, and the 5 items assessing odd (paranormal) beliefs and magical thinking (OBMT) from the Schizotypal Personality Questionnaire. Using bivariate and logistic regression analyses, lifetime prevalence rates of PEs were estimated then compared before and after adjustment for socio-demographics, Arab ethnicity, psychological distress, and OBMT. Results Prevalence of PEs was 27.9%. Visual hallucinations were most common (12.8%), followed by persecutory delusions (6.7%) and auditory hallucinations (6.9%). Ideas of reference (3.6%) were least prevalent. PEs were significantly higher in Arabs (34.7%) compared with non-Arabs (16.4%, p < 0.001) with the exception of ideas of reference and paranoid delusions. Female gender was associated with a higher prevalence of PEs in the Arab group only (p < 0.001). Prevalence of PEs was significantly higher among Arabs (48.8% v. 15.8%, p < 0.001) and non-Arabs (35.2% v. 7.3%, p < 0.001) with OBMT. Arab ethnicity (OR = 2.10, p = 0.015), psychological distress (OR = 2.29 p = 0.003), and OBMT (OR = 6.25, p < 0.001) were independently associated with PEs after adjustment for all variables. Conclusions Ethnicity, but not migration was independently associated with PEs. Evidence linking Arab ethnicity, female gender, and psychological distress to PEs through associations with OBMT was identified for future prospective investigations.
Production of 2‐methylisoborneol by Streptomyces violaceusniger and its transformation by selected species of Pseudomonas

The effect of glucose, glycerol and yeast‐extract (YE) on 2‐methylisoborneol (MIB) production by Streptomyces violaceusniger (C4–S strain) was determined. Glycerol as a sole carbon source promoted MIB production was maximum concentration (40.65 µg/l) after 10 days incubation, while glucose favored biomass production. Increasing YE concentration from 0.1 to 1% (W/V) repressed MIB production with 62 and 83% reduction after 10 and 14 days, respectively. Transformation of this odorous compound was investigated using seven different Pseudomonas species. Action of the different Pseudomonas spp. on the C4–S extract was followed at 1 hour, 2 hours, 6 hours and 12 hours. Pseudomonas spp. 1, 2, 3 and 5 indicated a positive reaction; however, Pseudomonas spp. 4, 6 and 7 showed no effect. These data suggest that 2‐methylisoborneol can be transformed by Pseudomonas spp. and the test adopted by this study can be applied for screening organisms for their ability to transform MIB. (© 2005 WILEY‐VCH Verlag GmbH & Co. KGaA, Weinheim)