Miracle-dz/UniFAR-FTUs huggingface dataset:
Whole Genome Sequencing Reveals Novel Non-Synonymous Mutation in Ectodysplasin A (EDA) Associated with Non-Syndromic X-Linked Dominant Congenital Tooth Agenesis

Congenital tooth agenesis in human is characterized by failure of tooth development during tooth organogenesis. 300 genes in mouse and 30 genes in human so far have been known to regulate tooth development. However, candidature of only 5 genes viz. PAX9, MSX1, AXIN2, WNT10A and EDA have been experimentally established for congenitally missing teeth like hypodontia and oligodontia. In this study an Indian family with multiple congenital tooth agenesis was identified. Pattern of inheritance was apparently autosomal dominant type with a rare possibility to be X-linked. Whole genome sequencing of two affected individuals was carried out which revealed 119 novel non-synonymous single nucleotide variations (SNVs) distributed among 117 genes. Out of these only one variation (c.956G>T) located at exon 9 of X-linked EDA gene was considered as pathogenic and validated among all the affected and unaffected family members and unrelated controls. This variation leads to p.Ser319Ile change in the TNF homology domain of EDA (transcript variant 1) protein. In silico analysis predicts that this Ser319 is well conserved across different vertebrate species and a part of putative receptor binding site. Structure based homology modeling predicts that this amino acid residue along with four other amino acid residues nearby, those when mutated known to cause selective tooth agenesis, form a cluster that may have functional significance. Taken together these results suggest that c.956G>T (p.Ser319Ile) mutation plausibly reduces the receptor binding activity of EDA leading to distinct tooth agenesis in this family.
Accommodating Dynamic Oceanographic Processes and Pelagic Biodiversity in Marine Conservation Planning

Pelagic ecosystems support a significant and vital component of the ocean's productivity and biodiversity. They are also heavily exploited and, as a result, are the focus of numerous spatial planning initiatives. Over the past decade, there has been increasing enthusiasm for protected areas as a tool for pelagic conservation, however, few have been implemented. Here we demonstrate an approach to plan protected areas that address the physical and biological dynamics typical of the pelagic realm. Specifically, we provide an example of an approach to planning protected areas that integrates pelagic and benthic conservation in the southern Benguela and Agulhas Bank ecosystems off South Africa. Our aim was to represent species of importance to fisheries and species of conservation concern within protected areas. In addition to representation, we ensured that protected areas were designed to consider pelagic dynamics, characterized from time-series data on key oceanographic processes, together with data on the abundance of small pelagic fishes. We found that, to have the highest likelihood of reaching conservation targets, protected area selection should be based on time-specific data rather than data averaged across time. More generally, we argue that innovative methods are needed to conserve ephemeral and dynamic pelagic biodiversity.
Plasma membrane aminoglycerolipid flippase function is required for signaling competence in the yeast mating pheromone response pathway

Flippases that catalyze interleaflet lipid transfer, as well as the stimulatory protein kinase Fpk1, localize to the shmoo tip. Although viable and near-normal morphologically, cells lacking these flippases fail to respond to pheromone due to derangements in PtdIns(4,5)P2 localization, with ensuing effects on the level and/or function of MAPK scaffold protein Ste5.
Lateral ventricular neoplasms of the brain: differential diagnosis based on clinical, CT, and MR findings.

The differential diagnosis of lateral ventricular tumors was explored by retrospective analysis of 47 pathologically proved cases identified by CT and/or MR imaging. Third ventricular tumors adjacent to the foramen of Monro (e.g., colloid cysts) were excluded. Forty-six patients underwent CT, and eight had MR imaging. The most common neoplasms were choroid plexus papilloma (10 cases) and meningioma (nine cases). Other common neoplasms included subependymoma (six cases), subependymal giant cell astrocytoma (five cases), and metastasis/lymphoma (four cases). Important features for differential diagnosis included age of the patient, the tumor's location within the lateral ventricle, and density on CT before IV administration of contrast material. Fifty percent of the tumors were in the ventricular atrium. All intraventricular tumor types (except subependymoma) showed contrast enhancement. MR was most useful in evaluating tumor location, size, and extent, but it did not help in eliminating alternative diagnoses. On the basis of patients' ages, specific tumor location, and the appearance on CT scans or MR images, an algorithm for differential diagnosis of lateral ventricular tumors was developed.
Spin-down of Pulsations in the Cooling Tail of an X-Ray Burst from 4U 1636–53

With the proportional counter array on board the Rossi X-ray Timing Explorer, we report the discovery of a decrease in the frequency of X-ray brightness oscillations in the cooling tail of an X-ray burst from 4U 1636-53. This is the first direct evidence for a spin-down of the pulsations seen during thermonuclear bursts. We find that the spin-down episode is correlated with the appearance in this burst of an extended tail of emission with a decay timescale much longer than is seen in other bursts from 4U 1636-53 in the same set of observations. We present both time-resolved energy and variability spectra during this burst and compare them with results from a second burst that shows neither a spin-down episode nor an extended tail. A spectral evolution study of the "spin-down" burst reveals a secondary signature of weak radius expansion, which is not seen in other bursts and is correlated with the spin-down episode; this may indicate a secondary thermonuclear energy release. We interpret the spin-down episode in the context of an angular momentum-conserving shell, which is reexpanded and therefore spun down by an additional thermonuclear energy release that could also explain the extended X-ray tail.
A FLARING X-RAY SOURCE WITH AN Hα-BRIGHT COUNTERPART TOWARD THE SMALL MAGELLANIC CLOUD

We report the discovery of a flaring X-ray source with an optical counterpart with Hα emission and red-excess, in the direction of the Small Magellanic Cloud. A 100 ks X-ray observation with Chandra detected a flare lasting ∼6 ks in the source CXO J005428.9−723107. The X-ray spectrum during the flare was consistent with a thermal plasma of temperature kT = 2.4 ± 0.4 keV. In quiescence following the flare the spectrum was softer (kT ∼ 0.4 keV). Timing analysis did not reveal any significant periodicities or quasi-periodic oscillations. Optical images taken with the Magellan–Baade 6.5 m telescope show a single star in the (0.″9) error circle. This star has apparent magnitude V = 19.17, exhibits enhanced Hα emission (Hα − r = −0.88 ± 0.02), and has a large proper motion. Alternative explanations are explored, leading to identification as a relatively nearby (Galactic) coronally active binary star of the BY Draconis class.
Cardiovascular system simulation in biomedical engineering education.

A number of complex cardiovascular system models have been developed at the University of Wisconsin largely as a result of bioengineering thesis work carried on in the Department of Electrical Engineering, using a large hybrid computer. Other work in modeling includes parameter estimation study and the development of new methods of modeling. This work has been carried out in collaboration with research workers in Medical and Life Sciences Departments at Wisconsin.
Spectral Imaging at the Microscale and Beyond

Here we give context to the special issue “Spectral Imaging at the Microscale and Beyond” in Sensors. We start with an introduction and motivation for the need for spectral imaging and then present important definitions and background concepts. Following this, we review new developments and applications in environmental monitoring, biomaterials, microfluidics, nanomaterials, healthcare, agriculture and food science, with a special focus on the articles published in the special issue. Some concluding remarks put the presented developments in context vis-à-vis the future of spectral imaging.
Through-the-Wall Localization of a Moving Target by Two Independent Ultra Wideband (UWB) Radar Systems

In the case of through-the-wall localization of moving targets by ultra wideband (UWB) radars, there are applications in which handheld sensors equipped only with one transmitting and two receiving antennas are applied. Sometimes, the radar using such a small antenna array is not able to localize the target with the required accuracy. With a view to improve through-the-wall target localization, cooperative positioning based on a fusion of data retrieved from two independent radar systems can be used. In this paper, the novel method of the cooperative localization referred to as joining intersections of the ellipses is introduced. This method is based on a geometrical interpretation of target localization where the target position is estimated using a properly created cluster of the ellipse intersections representing potential positions of the target. The performance of the proposed method is compared with the direct calculation method and two alternative methods of cooperative localization using data obtained by measurements with the M-sequence UWB radars. The direct calculation method is applied for the target localization by particular radar systems. As alternative methods of cooperative localization, the arithmetic average of the target coordinates estimated by two single independent UWB radars and the Taylor series method is considered.
Combining model-free and model-based angle of attack estimation for small fixed-wing UAVs using a standard sensor suite

We propose to estimate steady and turbulent wind velocities and aerodynamic coefficients of a fixed-wing Unmanned Aerial Vehicle (UAV) by using frequency separation as well as kinematic, aerodynamic and wind models combined in an Extended Kalman Filter (EKF). With these estimates it is possible to calculate the angle of attack and the magnitude of the airspeed. Avoiding the need for prior knowledge of UAV parameters, the proposed method utilizes only sensor information that is part of a standard sensor suite, which consists of a Global Navigation Satellite System (GNSS), an Inertial Measurement Unit (IMU) and a pitot-static tube, and attitude information obtained from these sensors. An observability analysis shows that attitude changes are necessary during the initialization phase and from time to time during the flight. Simulation results indicate that, with typical sensor accuracy, the estimates are close to the reference values of the aerodynamic coefficients and wind velocities and is capable of estimating the Angle of Attack with an Root Mean Square Error (RMSE) of 0.33°, the Sideslip Angle with an RMSE of 3.21° and the airspeed with an RMSE of 0.23 m/s.
Clinical features of depressed children and adolescents with various forms of suicidality.

OBJECTIVE To examine various forms of suicidality specified in DSM-IV and their clinical characteristics in a large sample of children and adolescents with major depressive disorder (MDD). METHOD Subjects included 553 children and adolescents (aged 7.0-14.9 years) recruited between April 2000 and December 2004 from 23 mental health facilities in Hungary. Subjects received standardized clinical evaluations and best-estimate consensus DSM-IV diagnoses of MDD. All subjects were in a current episode of MDD at their assessment date. RESULTS Approximately 68% of the sample had recurrent thoughts of death, 48% had suicidal ideation, 30% had suicide plan, and 12% had attempted suicide. Compared with nonsuicidal peers, suicidal children and adolescents were more severely depressed, had more depressive symptoms, and more likely had comorbid disorders. However, depressed children and adolescents with various forms of suicidality were very similar in clinical characteristics. Feelings of worthlessness, depressed mood, psychomotor agitation, and comorbid separation anxiety and conduct disorders were independent correlates of at least 1 form of suicidality. Only feelings of worthlessness was related to all 4 suicidal behaviors, after adjustment for other depressive symptoms, comorbid disorders, and demographics. CONCLUSION Clinical characteristics differ between nonsuicidal and suicidal children and adolescents but are very similar across various forms of suicidality. Feelings of worthlessness may play a central role in the development of suicidal behavior. Interventions toward the enhancement of self-esteem and amelioration of underlying psychopathology may be crucial for the prevention of suicide attempts in depressed children and adolescents.
Motor Competence in Early Childhood Is Positively Associated With Bone Strength in Late Adolescence

The onset of walking in early childhood results in exposure of the lower limb to substantial forces from weight bearing activity that ultimately contribute to adult bone strength. Relationships between gross motor score (GMS), at 18 months and bone outcomes measured at age 17 years were examined in 2327 participants in the Avon Longitudinal Study of Parents and Children (ALSPAC). Higher GMS indicated greater motor competence in weight‐bearing activities. Total hip bone mineral density (BMD) and hip cross‐sectional moment of inertia (CSMI) were assessed from dual‐energy X‐ray absorptiometry (DXA). Bone measures including cortical bone mineral content (BMC), periosteal circumference (PC), cortical thickness (CT), cortical bone area (CBA), cortical BMD (BMDC) and cross‐sectional moment of inertia (CSMI) were assessed by peripheral quantitative computed tomography (pQCT) at 50% distal‐proximal length. Before adjustment, GMS was associated with hip BMD, CSMI, and tibia BMC, PC, CT, CBA and CSMI (all p < 0.001) but not BMDC (p > 0.25). Strongest associations (standardized regression coefficients with 95% CI) were between GMS and hip BMD (0.086; 95% CI, 0.067 to 0.105) and tibia BMC (0.105; 95% CI, 0.089 to 0.121). With the exception of hip BMD, larger regression coefficients were observed in males (gender interactions all p < 0.05). Adjustment for lean mass resulted in substantial attenuation of regression coefficients, suggesting associations between impaired motor competence and subsequent bone development are partly mediated by alterations in body composition. In conclusion, impaired motor competence in childhood is associated with lower adolescent bone strength, and may represent a risk factor for subsequent osteoporosis. © 2015 The Authors. Journal of Bone and Mineral Research published by Wiley Periodicals, Inc. on behalf of American Society for Bone and Mineral Research (ASBMR).
The effect of stress on udder health of dairy cows.

The appropriate literature has been reviewed for the purpose of defining the phenomenon of stress in lactating dairy cattle, establishing a baseline concept of lactation stress and emphasizing the most significant aspects of the natural mammary defence mechanisms. Data on the general adaptation syndrome (GAS) make it clear that stress is essentially the rate of wear and tear of the biological system affected by a stressor either eliciting stress of the organism as a whole or partly so. Owing to the variety of stressors which may affect the dairy cow at physiological and pathological levels, a definition of stress in the broad sense is indicated. This is essential from the point of view of the anti-homeostatic effects (metabolic and immunological) of lactation stress, aggravated by anti-homeostatic effects elicited by superimposed other types of stress (e.g. heat stress). The lactating cow, as a ruminant in a state of sustained stress, requires a special profile of hormonal mediators. In high yielding cows, for example, acute and sustained heat stress promotes increased activities of prolactin, progesterone and catecholamines. Compared with the mainly glycogenic/glycogenolytic metabolism of non-ruminant mammals, the lipogenic/lipolytic and glycogenic/glycogenolytic metabolism of the dairy cow depends on hormonal mediators which differ from those of the former not so much in their nature but in their magnitude and ratios. Stressors induce the development of GAS reactions in the dairy cow. These enable the cow to create and maintain homeostasis of its integrated 3 main physio-pathological systems and thus to endure the stressor(s). The cow's compensating adjustments to a stressor are therefore the effects of stress. This means that natural lactation is the effect of the lactation stress induced by the cow's progeny (i.e. the natural lactation stressor). Artificial lactation stressors (e.g. removal of milk by hand and machine) may affect the lactation stress in magnitude but not necessarily in nature. Likewise, a range of behavioural, physiological, lactational and lacteal changes related to other stressors are the effects of different types of stress. Lactation stress, like other types of stress, shows 3 stages of development, i.e., an overcompensating alarm phase (= lactogenesis), resistance phase (= galactopoiesis) and exhaustion phase (= regression). They facilitate adjustments of the cow's homeostasis from the level of involutional homeostasis (= no lactational activity) to that of lactational homeostasis. Like other tissues in a state of stress, the lactating mammary epithelium requires a greatly increased supply of glucose. (ABSTRACT TRUNCATED AT 400 WORDS)
Arterial Spin–Labeled Perfusion Imaging to Predict Mismatch in Acute Ischemic Stroke

Background and Purpose— We assigned a threshold to arterial spin–labeling (ASL) perfusion-weighted images (PWI) from patients with acute ischemic stroke and compared them with dynamic susceptibility contrast perfusion images to examine whether mismatch can be determined. Methods— Pseudocontinuous ASL was combined with dynamic susceptibility contrast PWI in 23 patients with acute ischemic stroke. Scans were obtained within 24 hours of symptom onset. PWI volumes were defined by ASL cerebral blood flow (<15, <20, and <25 mL/100 g per minute) and dynamic susceptibility contrast–mean transit time (MTT) thresholds (>10 s) that show a strong association with cerebral blood flow <20 mL/100 g per minute in Xenon CT studies. Agreement between the ASL–diffusion-weighted imaging and MTT–diffusion-weighted imaging mismatch and the correlation between penumbra salvage and infarct growth, defined as the difference between the baseline PWI and the baseline diffusion-weighted imaging lesion, respectively, and the final infarct volume were assessed. Results— The lesion volumes defined by MTT>10 s and ASL<20 mL/100 g per minute showed an excellent correlation. There was 100% agreement on the mismatch status between MTT>10 s and ASL<20 mL/100 g per minute. The correlation between infarct growth and penumbra salvage volume was significantly better for PWI lesions defined by ASL<20 mL/100 g per minute and MTT>10 s. Conclusions— In acute ischemic stroke, PWI lesions based on ASL threshold of <20 mL/100 g per minute can provide a reliable estimate of mismatch in correspondence at MTT threshold of >10 s.
Microbiologic, Pharmacokinetic, and Clinical Effects of Corneal Collagen Cross-Linking on Experimentally Induced Pseudomonas Keratitis in Rabbits

Purpose: To determine the effects of corneal collagen cross-linking (CXL) on the penetration of topical 0.5% moxifloxacin, on the number of colony-forming units (CFUs) in the cornea, and on the clinical course in a rabbit eye model of experimentally induced Pseudomonas aeruginosa keratitis. Methods: In this prospective animal study, experimental Pseudomonas corneal ulcers were induced in 56 corneas of 28 albino New Zealand rabbits. The corneas were randomly divided into the following 4 groups: the control group (14 eyes), the MOX group (moxifloxacin) (14 eyes), the MOX + CXL group (14 eyes), and the CXL group (14 eyes). On day 4 of the experiment, the eyes in the control group were enucleated and CFU counting was performed. On day 10 of the experiment, all eyes were enucleated and CFU counting was performed. In the MOX and MOX + CXL groups, the moxifloxacin level in the cornea, aqueous humor, iris, plasma, and serum was measured by reverse-phase high-performance liquid chromatography. Results: The difference in the corneal CFU count between the MOX group and the MOX + CXL group was not significant (P = 0.317). Clinical improvement was greatest in the MOX + CXL group (P < 0.001). The mean corneal moxifloxacin level was 0.391 ± 0.09 &mgr;g·mg−1 in the MOX group versus 0.291 ± 0.09 &mgr;g·mg−1 in the MOX + CXL group; as such, CXL did not have a significant effect on antibiotic penetrance (P = 0.386). Conclusions: Clinical improvement was greatest in the MOX + CXL group. The synergistic effect of CXL on corneal ulcer treatment is not through antibiotic penetrance.
Initial experience of percutaneous renal cryosurgery under the guidance of a horizontal open MRI system.

OBJECTIVE The aim of this study was to obtain preliminary results of cryoablation of renal tumors by using a percutaneous approach guided by a horizontal open MRI system, and to assess the safety and efficacy of this procedure. MATERIALS AND METHODS Four patients with renal tumors underwent percutaneous cryosurgery with local anesthesia using a horizontal open MRI system (AIRIS II, Hitachi Medical Corp., Tokyo, Japan). The size of the mass was radiographically documented as 4 cm or less in diameter. A 2- or 3-mm cryoprobe was advanced into the renal mass under real-time MR monitoring. Growth of the iceball during cryoablation was monitored by two-dimensional MR images. Follow-up dynamic CT and physical examination were done after two weeks and six weeks. RESULT MR imaging demonstrated the iceballs as sharply marginated regions of signal loss that expanded and engulfed the renal mass with clear contrast between the iceball and surrounding tissue. Cryoablated tumors resolved, and there were no serious complications and no clinically significant changes during the procedures and follow-up study. CONCLUSION In this limited clinical trial of percutaneous renal tumor surgery, cryoablation demonstrated its feasibility with minimal morbidity. Intraprocedual MR-guided cryosurgery can be used as a safe modality, although further studies are necessary to determine the long-term efficacy of this procedure.