Miracle-dz/UniFAR-FTUs huggingface dataset:
Spondyloocular Syndrome: Novel Mutations in XYLT2 Gene and Expansion of the Phenotypic Spectrum

Spondyloocular syndrome is an autosomal‐recessive disorder with spinal compression fractures, osteoporosis, and cataract. Mutations in XYLT2, encoding isoform of xylosyltransferase, were recently identified as the cause of the syndrome. We report on 4 patients, 2 unrelated patients and 2 siblings, with spondyloocular syndrome and novel mutations in XYLT2. Exome sequencing revealed a homozygous nonsense mutation, NM_022167. 3(XYLT2): c.2188C>T, resulting in a premature stop codon (p.Arg730*) in a female patient. The patient presents visual impairment, generalized osteoporosis, short stature with short trunk, spinal compression fractures, and increased intervertebral disc space and hearing loss. We extended our XYLT2 analysis to a cohort of 22 patients with generalized osteoporosis, mostly from consanguineous families. In this cohort, we found by Sanger sequencing 2 siblings and 1 single patient who were homozygous for missense mutations in the XYLT2 gene (p.Arg563Gly and p.Leu605Pro). The patients had osteoporosis, compression fractures, cataracts, and hearing loss. Bisphosphonate treatment in 1 patient resulted in almost complete normalization of vertebral structures by adolescence, whereas treatment response in the others was variable. This report together with a previous study shows that mutations in the XYLT2 gene result in a variable phenotype dominated by spinal osteoporosis, cataract, and hearing loss. © 2016 American Society for Bone and Mineral Research.
Detecting deterioration in patients with chronic disease using telemonitoring: navigating the 'trough of disillusionment'.

OBJECTIVES To examine the evidence base for telemonitoring designed for patients who have chronic obstructive pulmonary disease and heart failure, and to assess whether telemonitoring fulfils the principles of monitoring and is ready for implementation into routine settings. DESIGN Qualitative data collection using interviews and participation in a multi-path mapping process. PARTICIPANTS Twenty-six purposively selected informants completed semi-structured interviews and 24 individuals with expertise in the relevant clinical and informatics domains from academia, industry, policy and provider organizations and participated in a multi-path mapping workshop. RESULTS The evidence base for the effectiveness of telemonitoring is weak and inconsistent, with insufficient cost-effectiveness studies. When considered against an accepted definition of monitoring, telemonitoring is found wanting. Telemonitoring has not been able so far to ensure that the technologies fit into the life world of the patient and into the clinical and organizational milieu of health service delivery systems. CONCLUSIONS To develop effective telemonitoring for patients with chronic disease, more attention needs to be given to agreeing the central aim of early detection and, to ensure potential implementation, engaging a wide range of stakeholders in the design process, especially patients and clinicians.
Electromagnetic formation control for fractionated spacecraft

This paper investigates the problem of cooperative attitude tracking in the context of fractionated spacecraft free flying that uses electromagnets as relative attitude actuators. The dynamics of the electromagnetic formation flying system is introduced, which shows its inherent nonlinearities and couplings nature. The relative orbit dynamics and attitude kinematics and dynamics are given, the Modified Rodriguez Parameters are used for attitude representation due to its non-reduction. The expected attitude model is presented, then the control law is proposed. The simulation results indicate that the electromagnetic control is a very promising technique for formation flying, the design of the control system is effective, and the attitude tracking control accuracy is better than 0.02°.
Depression and Service Use Among Caregivers Dually Involved in the Child Welfare and Mental Health Systems

The purpose of this study was to investigate the prevalence of depression, use of mental health services, and correlates of service use among caregivers who are dually involved in the child welfare and child mental health systems. This study analyzed baseline data from 129 caregivers who reported child welfare system involvement and were participating in a Multiple Family Group service delivery model to reduce childhood disruptive behavior disorders. Seventy-eight (60.5%) of caregivers met or exceed the clinical cut-off for depression; of them 50 (64.1%) reported utilizing mental health services for their emotional health. Race, employment status, and Center for Epidemiologic Studies Depression Scale score were significantly associated with lifetime mental heath services use. Depression rates exceeded those found among caregivers involved in either the child welfare or child mental health systems. Rates of service use were higher than found in existing research. As expected, racial differences and depression were associated with service use; contrary to expectations, full-time employment was not associated with service use. Discrepancies between this study and existing research are discussed, as are practice, policy, and research implications.
Advanced torque control of permanent magnet synchronous motor using finite element anasysis based motor model with a real-time simulator

This paper presents a high performance torque control of Permanent Magnet Synchronous Motors using a real time simulator with a Finite Element Analysis (FEA) based motor model. This model can simulate some behaviors of the actual motor includes nonlinear characteristics such as spatial harmonics and magnet saturations. Therefore, a model based control developed with FEA based motor model takes some advantages for motor control. This research aims to achieve advanced motor control and drive techniques. In this paper, the high performance torque control techniques of PMSM are proposed. Proposed torque control is constructed based on direct torque control with torque prediction. This proposed method can achieve both fast response and smooth torque. The effectiveness is verified by performing some simulations and experiments.
Runx2 mRNA expression in the tissue, serum, and circulating non-hematopoietic cells of patients with thyroid cancer.

CONTEXT Runx2, a master gene of osteogenic differentiation, is also expressed in nonosseous cancer cells. Microcalcifications are characteristic of papillary thyroid carcinoma and represent a useful find for diagnosis. However, the molecular expression of osteogenic differentiation transcription factor Runx2 has been poorly investigated in this tumor. OBJECTIVE The aim of this study was to investigate Runx2 mRNA expression in normal and pathological thyroid tissue, serum, and circulating non-hematopoietic cells. SETTING The study was performed in the Endocrine Unit of Internal Medicine of "Azienda Ospedaliera Universitaria Integrata of Verona" (Verona, Italy). PATIENTS We enrolled 12 patients with a papillary thyroid carcinoma (PTC), who had undergone total thyroidectomy performed by the same surgeon. The results, obtained by real-time RT-PCR, were compared with biological samples obtained from 13 sex- and age-matched normal donors. RESULTS Our data demonstrated that Runx2 mRNA is overexpressed (7.81-fold expression) in pathological thyroid tissue than in normal tissue (P < 0.05). Runx2 mRNA overexpression was also observed in serum and circulating non-hematopoietic cells of PTC patients with respect to normal donors (5.91-fold expression, P < 0.001; 3.82-fold expression, P < 0.05, respectively). We also observed that patients with microcalcifications expressed significantly higher levels of Runx2 mRNA in serum with respect to patients without microcalcifications (P < 0.05). CONCLUSION This study can open up new research perspectives in the diagnosis and follow-up of PTC, even if further and larger cohort studies will be necessary to validate the Runx2 expression as biomarkers in thyroid cancer.
Mutual concurrent validity of the Child Health Questionnaire and the Health Utilities Index: An exploratory analysis using survivors of childhood cancer

Mutual concurrent validity of 2 generic measures of health‐related quality of life (HRQL), the Child Health Questionnaire (CHQ) and the Health Utilities Index Mark 2 (HUI2) and HUI3, was assessed. Data were from 3 centers participating in a Canadian multi‐center retrospective cohort study currently in progress to assess psycho‐social and physical late effects in children surviving ≥5 years after cancer diagnosis between 1981 and 1990. Exploratory results are from 244 parent reports on HRQL in children <16 years old when studied. Spearman rank‐order correlations between sub‐scale scores for the CHQ and single‐attribute utility scores for the corresponding attribute from the HUI2 and HUI3 were used. As predicted, the correlation between CHQ bodily pain and HUI2 and HUI3 pain was strong, 0.58 and 0.60, respectively, while correlations between CHQ physical functioning and HUI2 mobility and HUI3 ambulation were moderate, both 0.45. Correlations between CHQ mental health and HUI2 and HUI3 emotion were strong, 0.64 and 0.54, respectively, rather than moderate, as predicted. Both the CHQ general health scale and the general health single item were moderately correlated with the HUI2 and HUI3 global utility scores rather than weakly, as predicted (CHQ general health scale and HUI2 and HUI3 global utility were 0.43 and 0.44, respectively; CHQ general health single item and HUI2 and HUI3 global utility were 0.38 and 0.42, respectively). The CHQ and HUI, which are based on different methodologies (summative Likert scaling and utility analysis, respectively), appear to capture similar constructs in childhood cancer survivors. Int. J. Cancer Suppl. 12:95–105, 1999. ©1999 Wiley‐Liss, Inc.
Transient response to chemotactic stimuli in Escherichia coli.

We have followed by eye and with the tracking microscope the rotational behavior of E. coli tethered to coverslips by their flagella. The cells change their directions of rotation at random, on the average about once a second. When an attractant is added or a repellent is subtracted, they spin clockwise (as viewed through the coverslip, i.e., along the flagellum toward the body) for many seconds, then counter-clockwise for many seconds, and then gradually resume their normal mode of behavior. The time interval between the onset of the stimulus and the clockwise to counter-clockwise transitiion is a linear function of the change in receptor occupancy. The cells adapt slowly at a constant rate to the addition of an attractant or the subtraction of a repellent. They adapt rapidly to the subtraction of an attractant or the addition of a repellent. Responses to mixed stimuli can be analyzed in terms of one equivalent stimulus.
An in vitro evolved precursor tRNA with aminoacylation activity

A set of catalysts for aminoacyl‐tRNA synthesis is an essential component for translation. The RNA world hypothesis postulates that RNA catalysts could have played this role. Here we show an in vitro evolved precursor tRNA consisting of two domains, a catalytic 5′‐leader sequence and an aminoacyl‐acceptor tRNA. The 5′‐leader sequence domain selectively self‐charges phenylalanine on the 3′‐terminus of the tRNA domain. This cis‐acting ribozyme is susceptible to RNase P RNA, generating the corresponding 5′‐leader segment and the mature tRNA. Moreover, the 5′‐leader segment is able to aminoacylate the mature tRNA in trans. Mutational studies have revealed that C74 and C75 at the tRNA aminoacyl‐acceptor end form base pairs with G71 and G70 of the trans‐acting ribozyme. Such Watson–Crick base pairing with tRNA has been observed in RNase P RNA and 23S rRNA, suggesting that all three ribozymes use a similar mechanism for the recognition of the aminoacyl‐acceptor end. Our demonstrations indicate that catalytic precursor tRNAs could have provided the foundations for the genetic coding system in the proto‐translation system.
A Defect-Tolerant Architecture for Nanoelectronic Resistive Memories

We have calculated the useful density that may be achieved by the synergy of bad bit exclusion and advanced (BCH) error correcting codes in prospective hybrid (CMOS/nanodevice) resistive memories, as a function of the defective memory cell fraction. The results indicate that the memories with a CMOS/nano pitch ratio close to 3 (which is typical for the current, initial stage of hybrid circuit development), may overcome the usual resistive and flash memories with the same CMOS design rules in useful bit density if the fraction of bad nanodevices is below ~ 15%, even under rather tough (30 ns) restrictions on the total access time. Moreover, as the technology matures, and the pitch ratio approaches an order of magnitude, the hybrid resistive memories may be far superior to the densest semiconductor memories by providing, e. g. , a 1 Tbit/cm2 density even for a very conservative defect fraction of ~ 2%.
High throughput formation and measurement of occlusive thrombosis in porcine blood

Understanding and treating cardiovascular disease can benefit greatly from the development of low volume, high throughput tools to study thrombosis. We have designed, fabricated, and validated a microfluidic device to induce shear rates from 4300-7100 s -1 using only 10 mL of whole blood for 4 simultaneous assays to measure occlusive thrombosis optically. Shear rates were confirmed by flow rate and particle imaging velocimetry. Thrombosis measurements showed similar acute growth rates for all shear rates while time to acute growth onset and occlusion depend on initial shear rate. Applications range from unravelling the blood clotting cascade to drug dosage response measurement.
A theoretical and experimental study of waveguide coupled SAW resonator filters

The coupling-of-modes (COM) formalism is extended to include coupled transducers and applied to the modelling of surface acoustic wave (SAW) coupled resonator filters. The models do not require the derivation of equivalent circuits and they accommodate finger reflections, electromagnetic feedthrough and external matching circuits. Frequency responses for waveguide-coupled devices are computed and compared to experimental results. Longitudinal mode profiles within the resonant cavities are presented. <<ETX>>
Mode-coupling and renormalization group results for the noisy Burgers equation.

We investigate the noisy Burgers equation (Kardar-Parisi-Zhang equation in 1+1 dimensions) using the dynamical renormalization group (to two-loop order) and mode-coupling techniques. The roughness and dynamic exponent are fixed by Galilean invariance and a fluctuation-dissipation theorem. The fact that there are no singular two-loop contributions to the two-point vertex functions supports the mode-coupling approach, which can be understood as a self-consistent one-loop theory where vertex corrections are neglected. Therefore, the numerical solution of the mode-coupling equations yields very accurate results for the scaling functions. In addition, finite-size effects can be studied. Furthermore, the results from exact Ward identities, as well as from second-order perturbation theory, permit the quantitative evaluation of the vertex corrections, and thus provide a quantitative test for the mode-coupling approach. It is found that the vertex corrections themselves are of the order 1. Surprisingly, however, their effect on the correlation function is substantially smaller.
Preliminary research of a novel center-driven robot for upper extremity rehabilitation.

BACKGROUND Loss of upper limb function often appears after stroke. Robot-assisted systems are becoming increasingly common in upper extremity rehabilitation. Rehabilitation robot provides intensive motor therapy, which can be performed in a repetitive, accurate and controllable manner. OBJECTIVE This study aims to propose a novel center-driven robot for upper extremity rehabilitation. METHODS A new power transmission mechanism is designed to transfer the power to elbow and shoulder joints from three motors located on the base. The forward and inverse kinematics equations of the center-driven robot (CENTROBOT) are deduced separately. The theoretical values of the scope of joint movements are obtained with the Denavit-Hartenberg parameters method. A prototype of the CENTROBOT is developed and tested. RESULTS The elbow flexion/extension, shoulder flexion/extension and shoulder adduction/abduction can be realized of the center-driven robot. The angles value of joints are in conformity with the theoretical value. CONCLUSIONS The CENTROBOT reduces the overall size of the robot arm, the influence of motor noise, radiation and other adverse factors by setting all motors on the base. It can satisfy the requirements of power and movement transmission of the robot arm.
PTHrP Signaling Targets Cyclin D1 and Induces Osteoblastic Cell Growth Arrest

PTHrP control of the MC3T3‐E1 cell cycle machinery showed that, during differentiation, PTHrP induced G1 growth arrest. Cyclin D1 was a critical mediator as a downstream effector of cAMP, PKC, and MAPK signaling, and the process was PKA‐independent. The involvement of JunB has been found critical for PTHrP effects.
Switching pattern of a modular voltage balancing circuit for battery cells

Switching patterns are described for balancing the voltages of series connected Li-ion polymer batteries using non-dissipative cascaded modular power electronics. A balancing circuit is connected to two battery cells and consists of an asymmetrical half-bridge and a high frequency transformer. This reduces the number of switches and diodes to an average of one per battery. A balancing circuit or module can balance the voltage of two batteries by using two magnetically coupled windings connected to the centre tap of the two batteries: intra-bridge voltage balancing. Each module is coupled to adjacent modules by connecting transformer windings. Two fundamental control methods are described for transferring electrical charge between the batteries in adjacent modules: inter-bridge voltage balancing. Both control methods, “2-switch flyback control” and “phase-shifted control”, assume that each module determines its own switching pattern by monitoring the dc voltages in each of its adjacent modules. The relative merits of both controllers are described. Simulated and experimental results are presented for both controllers to validate the charge transfer methods used.
Comparative Study of Guaymas Basin Microbiomes: Cold Seeps vs. Hydrothermal Vents Sediments

In the Guaymas Basin, the presence at a few tens of kilometers of cold seeps and hydrothermal vents coupled with comparable sedimentary settings and depths offer a unique opportunity to assess and compare the microbial community composition of these deep-sea ecosystems. The microbial diversity in sediments from three cold seep and two hydrothermal vent assemblages were investigated using high-throughput 16S rRNA-sequencing. Numerous bacterial and archaeal lineages were detected in both cold seep and hydrothermal vent sediments. Various potential organic matter degraders (e.g. Chloroflexi, Atribacteria, MBG-D) and methane and sulfur cycling related microorganisms (e.g. ANME and methanogenic lineages, sulfate-reducing lineages) were detected in both ecosystems. This suggests that analogous metabolic processes such as organic matter degradation and anaerobic methane oxidation coupled to sulfate reduction, were probably occurring in these two contrasted ecosystems. These highlighted "core microbiome" of the Guaymas Basin chemosynthetic ecosystems might therefore result from the combined presence of up-rising fluid emissions and high sedimentary rates of organic matter in the Basin. These results, coupled with the detailed ribotype analysis of major archaeal lineages (ANME-1, ANME-2 and MBG-D), also suggest a potential connectivity among deep-sea ecosystems of the Guaymas Basin likely due to the sedimentary context and the absence of physical border. However, thermophilic and hyperthermophilic lineages (e.g. : Thermodesulfobacteria, Desulfurococcales, etc.) were exclusively identified in hydrothermally impacted sediments highlighting the strong influence of temperature gradients and other hydrothermally-related factors such as thermogenic sulfate reduction and sulfide formation on microbial community composition.
Relative Movements of Transmembrane Regions at the Outer Mouth of the Cystic Fibrosis Transmembrane Conductance Regulator Channel Pore during Channel Gating*

Background: Three-dimensional architecture of the CFTR channel is not well defined. Results: Different patterns of disulfide cross-linking between cysteine residues introduced into two transmembrane segments are observed in open and closed channels. Conclusion: The alignment of transmembrane segments changes during gating, consistent with translational movement of these segments. Significance: These findings illuminate three-dimensional structural rearrangements during CFTR channel opening. Multiple transmembrane (TM) segments line the pore of the cystic fibrosis transmembrane conductance regulator Cl− channel; however, the relative alignment of these TMs and their relative movements during channel gating are unknown. To gain three-dimensional structural information on the outer pore, we have used patch clamp recording to study the proximity of pairs of cysteine side chains introduced into TMs 6 and 11, using both disulfide cross-linking and Cd2+ coordination. Following channel activation, disulfide bonds could apparently be formed between three cysteine pairs (of 15 studied): R334C/T1122C, R334C/G1127C, and T338C/S1118C. To examine the state dependence of cross-linking, we combined these cysteine mutations with a nucleotide-binding domain mutation (E1371Q) that stabilizes the channel open state. Investigation of the effects of the E1371Q mutation on disulfide bond formation and Cd2+ coordination suggests that although R334C/T1122C and T338C/S1118C are closer together in the channel open state, R334C/G1127C are close together and can form disulfide bonds only when the channel is closed. These results provide important new information on the three-dimensional structure of the outer mouth of the cystic fibrosis transmembrane conductance regulator channel pore: TMs 6 and 11 are close enough together to form disulfide bonds in both open and closed channels. Moreover, the altered relative locations of residues in open and in closed channels that we infer allow us to propose that channel opening and closing may be associated with a relative translational movement of TMs 6 and 11, with TM6 moving “down” (toward the cytoplasm) during channel opening.
REPEATED GEOGRAPHIC VARIATION AT THREE ENZYME LOCI IN THE AMPHIPOD PLATORCHESTIA PLATENSIS

1983. Organization of ribosomal DNA in yellow lupine iLupinus luteus) and sequence of the 5.8S RNA gene. FEBS Lett. 152:241-246. REEDER, R. H. 1984. Enhancers and ribosomal gene spacers. Cell 38:349-351. ROGERS, S. 0. , S. HONDA, AND A. J. BENDICH. 1986. Variation in the ribosomal RNA genes among individuals of Vicia faba. Plant Molec. BioI. 6:339345. SAGHAI-MAROOF, M. A, K. M. SOLIMAN, R. A JORGENSEN, AND R. W. ALLARD. 1984. Ribosomal spacer length polymorphisms in barley: Mendelian inheritance, chromosomal location, and population dynamics. Proc. Nat. Acad. Sci. USA 81:8014-8018. SCHAAL, B. A 1974. Isolation by distance in Liatris cylindracea. Nature 252:703. SOKAL, R. R. , AND F. J. ROHLF. 1981. Biometry. Freeman, San Francisco, CA. SYTSMA, K. J., AND B. A. SCHAAL. 1985. Phylogenetics of the Lisianthius skinneri (Gentianaceae) species complex in Panama utilizing DNA restriction fragment analysis. Evolution 39:594-608. TANAKA, Y. , T. A. DYER, AND G. G. BROWNLEE. 1980. An improved direct RNA sequence method: Its ap-