Miracle-dz/UniFAR-FTUs huggingface dataset:
On the X Chromosome of Man

The history of our knowledge of the X chromosome of man is reviewed with appropriate reference to the contributions made through study of other forms. It is noteworthy that sex-linkage was first observed in man. X-linkage has been established for about 60 traits in man. Unlike a majority of autosomal traits in man, most of the observed X-linked traits are recessives (or incomplete recessives). The genetic map of the X chromosome is known only in the most sketchy manner but is likely to be filled in rapidly in the next few years through the use of newly discovered markers, such as the Xga blood group, and cytogenetic investigations of cases of X chromosome anomalies. It appears that the color-vision locus (or loci) is on the short arm and may be rather far from the kinetochore. Based on chiasma counts of autosomes, estimates of the genetic length of the X chromosomes are of the order of 100 map units (1 morgan). Independent segregation of color blindness and night blindness, of color blindness and hemophilia B, and of Xga and hemophilia A and B is consistent with this estimate. Cytologic observations of the male meiotic chromosomes make it unlikely that any significant portions of the X and Y chromosomes are homologous. Furthermore, the pedigree data on all traits for which partial X linkage has been suggested are at the best inconclusive. The Barr body is formed from one X chromosome (or part thereof) which retains heterochromatic properties during interphase. The Lyon hypothesis suggests that on a random basis one X chromosome in each cell of the female becomes the Barr body and genetically is relatively inactive; that the decision as to which X chromosome will behave in this manner is made early in development and once made is fixed in all descendants of a given cell. The cytologic basis of the hypothesis is presented. The genetic consequences which the hypothesis would predict have been outlined and the evidence available to date reviewed. Mutation, the sex ratio, selection, consanguinity, evolution, and genetic counselling are discussed as they bear on the X chromosomes and vice versa. The limited information about the Y chromosome is reviewed briefly.
Motion Compensation for Airborne SAR via Parametric Sparse Representation

A method of motion status estimation of airborne synthetic aperture radar (SAR) platform in short subapertures via parametric sparse representation is proposed for high-resolution SAR image autofocusing. The SAR echo is formulated as a jointly sparse signal through a parametric dictionary matrix, which converts the problem of SAR motion status estimation into a problem of dynamic representation of jointly sparse signals. A full synthetic aperture is decomposed into several subapertures to estimate the dynamic motion parameters of a platform, and SAR motion compensation is achieved by refining the estimation of the equivalent platform motion parameters, i.e., the azimuth velocity and the radial acceleration of the radar platform, at each subaperture in an iterative fashion. Experimental results based on both simulated and real data demonstrate that: 1) the proposed algorithm outperforms the map-drift algorithm and the phase gradient autofocus algorithm in terms of the imaging quality and 2) compared to the iterative minimum-entropy autofocus, the proposed algorithm produces the comparative imaging quality with less computational complexity in complex motion environment.
Distinct Mechanisms Underlie Associations Between Forms of Childhood Maltreatment and Disruptive Nocturnal Behaviors

Childhood maltreatment is associated with risk for sleep disturbances, including Disruptive Nocturnal Behaviors (DNBs). Yet, little is known regarding associations between specific forms of maltreatment and DNBs, or factors that mediate and moderate these associations. Data from a community sample of high-risk youth (n = 193; M = 18.87 years old) indicated that self-reported emotional and sexual abuse during childhood made specific contributions to DNBs at the time of assessment. Trauma-related psychopathology mediated the effects of emotional abuse. Furthermore, executive function moderated the effects of sexual abuse. Findings suggest that distinct mechanisms underlie associations between maltreatment types and DNBs.
A Phase I Trial of DFMO Targeting Polyamine Addiction in Patients with Relapsed/Refractory Neuroblastoma

Background Neuroblastoma (NB) is the most common cancer in infancy and most frequent cause of death from extracranial solid tumors in children. Ornithine decarboxylase (ODC) expression is an independent indicator of poor prognosis in NB patients. This study investigated safety, response, pharmacokinetics, genetic and metabolic factors associated with ODC in a clinical trial of the ODC inhibitor difluoromethylornithine (DFMO) ± etoposide for patients with relapsed or refractory NB. Methods and Findings Twenty-one patients participated in a phase I study of daily oral DFMO alone for three weeks, followed by additional three-week cycles of DFMO plus daily oral etoposide. No dose limiting toxicities (DLTs) were identified in patients taking doses of DFMO between 500-1500 mg/m2 orally twice a day. DFMO pharmacokinetics, single nucleotide polymorphisms (SNPs) in the ODC gene and urinary levels of substrates for the tissue polyamine exporter were measured. Urinary polyamine levels varied among patients at baseline. Patients with the minor T-allele at rs2302616 of the ODC gene had higher baseline levels (p=0.02) of, and larger decreases in, total urinary polyamines during the first cycle of DFMO therapy (p=0.003) and had median progression free survival (PFS) that was over three times longer, compared to patients with the major G allele at this locus although this last result was not statistically significant (p=0.07). Six of 18 evaluable patients were progression free during the trial period with three patients continuing progression free at 663, 1559 and 1573 days after initiating treatment. Median progression-free survival was less among patients having increased urinary polyamines, especially diacetylspermine, although this result was not statistically significant (p=0.056). Conclusions DFMO doses of 500-1500mg/m2/day are safe and well tolerated in children with relapsed NB. Children with the minor T allele at rs2302616 of the ODC gene with relapsed or refractory NB had higher levels of urinary polyamine markers and responded better to therapy containing DFMO, compared to those with the major G allele at this locus. These findings suggest that this patient subset may display dependence on polyamines and be uniquely susceptible to therapies targeting this pathway. Trial Registration Clinicaltrials.gov NCT#01059071
Investigating and supporting undirected navigation for runners

We present an analysis of how runners navigate the environment when running. Results from 153 questionnaire, and 8 interview participants found navigation was often not pre-planned, had no clear route and changed organically as running was undertaken. From this we present the design of RunNav, a novel navigation system that uses Foursquare to provide support for the navigation practices runners employ. We illustrate its basic design, and plans for its future development and evaluation.
Design methodology for the optimization of transformer-loaded RF circuits

In this paper, a design methodology for the optimization of transformer-loaded RF circuits is presented. The optimization procedure is based on a novel figure of merit for the integrated transformer (namely the transformer characteristic resistance), which was introduced to quantify its performance when operated as a tuned load. Using the proposed approach, a highly linear up-converter for 5-GHz wireless LAN applications was implemented in a 45-GHz-f/sub T/ SiGe HBT technology. The circuit achieved an output 1-dB compression point of 4.5 dBm and a power gain of 18 dB, while drawing only 34 mA from a 3-V power supply.
Closed form expression for the probability of collision: Two independent transmitters

In this paper, we derive the closed form expression for the Probability of collision in an independent two transmitter scenario. Our approach to the problem is different starting from the fundamentals. Our analysis involves the discrete as well as the continuous time domain problem formulations. The two transmitter case gives a two dimensional sample space. As the time window is increasing compared with the packet size, a decrease in the probability of collision has to be observed. Our results give a strong mathematical justification for this fact. We also present a 3-D view of the variation in the probability of collision due to the changes in the ratio of packet size and the time window.
IV. RENAL INTERSTITIAL CELLS: PROSTAGLANDINS AND HYPERTENSION Release of a Prostaglandin-like Substance into Renal Venous Blood in Response to Angiotensin II

A prostaglandin-like substance (PLS) was released into renal venous blood by angiotensin II infused into the renal artery in all nine chloralose-anesthetized dogs. A bioassay procedure, the superfused blood-bathed organ technique, was used to detect PLS. This method possesses the required sensitivity and specificity for the detection of nanogram quantities of prostaglandins in blood. The threshold doses of angiotensin II required to release PLS were variable: 0.5 to 20 ng/kg/min (concomitant mean reduction of renal blood flow ± SEM: 35 ±10). Release of PLS coincided with recovery of renal blood flow m 26 of 30 observations. The amount of PLS appearing in renal effluent was not related to the dose of angiotensin II. Tentative identiication of PLS released by angiotensinII was obtained by (1) matching the activity of assay organs produced by angiotensin II with PGE2 standards, and (2) collection of renal venous blood simultaneously with the appearance of PLS for biochemical characterization. Acidic lipid extracts of the blood and purified samples, prepared by thin-layer chromatpgraphy, produced effects on the assay organs indistinguishable from PGE2 standards. These results suggest that a renal prostaglandin, PGE2, which has been identified in canine renal medulla, might function as a regulator of renal blood flow and urine formation when circulating levels of angioten
Trace elements in the soil of some specific localities on Mt. Medvednica

Over most of the area the mountain massif of Medvednica is a nature park surrounded by settlements with more than one million inhabitants. It is a large forest complex covering about 20, 000 ha and containing several grassland enclaves intended for recreation, and grasslands and pastures used for cattle breeding purposes. The forest area is sporadically broken up by quarries, whereas old medieval mines are completely covered by forests. Research was conducted in four specific localities. The first locality refers to recreational areas - grasslands whose top parts are converted into skiing and sledging grounds in winter months. The second locality is grasslands used for grazing and producing hay in experimental cattle breeding programmes (cows, bulls and sheep). The third and the fourth localities are areas of medieval mines (lead-zinc ore). Soil analysis aimed at detecting trace elements was made for the topsoil layer 5 cm deep. The results of research reveal high values of Pb, Zn, Mn and Se in the “ Zrinski” mining site. Pb concentrations reach over 20, 000 mg/kg, those of Zn over 3, 000, of Mn more than 7, 000, of Cd 27, and of Se 1.2 mg/kg. High values of Pb (up to 500 mg/kg) and Mn (up to 2, 500 mg/kg) were found in the “ French” mine locality. Extremely high lead and zinc concentrations were to be expected since these are lead-zinc mines dominated by the minerals galenite (PbS) and sphalerite (ZnS) with considerable portions of silver, which was the reason for mining. High copper (230 mg/kg) and arsenic (100 mg/kg) values were also registered in this locality. The invariably increased values of arsenic in livestock pastures and mine localities are indicative ; in contrast, the skiing grass area manifests considerably lower values. Increased manganese values are the consequence of the geochemical composition of the bedrock.
Low PKCa expression within the MRD-HR stratum defines a new subgroup of childhood T-ALL with very poor outcome

Pediatric T-cell Acute Lymphoblastic Leukemia (T-ALL) outcome has improved in the last decades, yet one patient in every four still relapses. Except treatment response and immunophenotype, few markers are reliably prognostic in pediatric T-ALL patients. Aiming to improve T-ALL risk stratification, we investigated a new candidate biomarker with potential prognostic relevance. A phosphoproteomic screening of 98 pediatric T-ALL samples at diagnosis had been performed using the high-throughput Reverse Phase Protein Arrays technique, which led to the identification of PKCαS657 as an activated protein with a broad variation among T-ALL samples. To evaluate PKCα potential as a prognostic biomarker, PKCα expression was analyzed using RQ-PCR in a cohort of 173 patients, representative of ALL2000-ALLR2006 AIEOP study. A threshold of PKCα expression with the highest discrimination for incidence of relapse was identified. Patients with PKCα down-regulation, compared to patients with PKCα levels above the threshold, presented a markedly increased cumulative incidence of relapse (43.8% vs. 10.9%, P<0.001), as well as a worse 4-year overall survival (66% vs. 87.9%, P=0.002) and event-free survival (53.1% vs. 85.2%, P=0.002). In particular, low PKCα expression identified cases with extremely poor outcome within the high-risk minimal residual disease (MRD) stratum, their incidence of relapse being of 69% vs. 15% in the high PKCα levels group. In a multivariate analysis adjusting for main prognostic features, PKCα proved to be an independent prognostic factor related to incidence of relapse. Very high risk patients within the high-risk MRD stratum, identified by PKCα expression, could be proposed for experimental therapeutic protocols.
Distributed under Creative Commons Cc-by 4.0 Regular Group Exercise Is Associated with Improved Mood but Not Quality of Life following Stroke

Purpose. People with stroke living in the community have an increased prevalence of depression and lower quality of life than healthy older adults. This cross-sectional observational study investigated whether participation in regular exercise was associated with improved mood and quality of life. Methods. We recruited three groups of community dwelling participants: 13 healthy older adults, 17 adults post-stroke who regularly participated in group exercise at a community fitness facility and 10 adults post-stroke who did not regularly exercise. We measured mood using the Depression, Anxiety, Stress Scale (DASS) and quality of life using the Assessment of Quality of Life (AQoL) scale. Results. Levels of stress and depression were significantly greater in the people with stroke who did not undertake regular exercise (p = 0.004 and p = 0.004 respectively), although this group had more recent strokes (p < 0.001). Both stroke groups had lower quality of life scores (p = 0.04) than the healthy adults. Conclusions. This small, community-based study confirms that people following stroke report poorer quality of life than stroke-free individuals. However, those who exercise regularly have significantly lower stress and depression compared to stroke survivors who do not. Future research should focus on the precise type and amount of exercise capable of improving mood following stroke.
Delayed Acquisition of Neonatal Reflexes in Newborn Primates Receiving A Thimerosal-Containing Hepatitis B Vaccine: Influence of Gestational Age and Birth Weight

This study examined whether acquisition of neonatal reflexes in newborn rhesus macaques was influenced by receipt of a single neonatal dose of hepatitis B vaccine containing the preservative thimerosal (Th). Hepatitis B vaccine containing a weight-adjusted Th dose was administered to male macaques within 24 h of birth (n = 13). Unexposed animals received saline placebo (n = 4) or no injection (n = 3). Infants were tested daily for acquisition of nine survival, motor, and sensorimotor reflexes. In exposed animals there was a significant delay in the acquisition of root, snout, and suck reflexes, compared with unexposed animals. No neonatal responses were significantly delayed in unexposed animals. Gestational age (GA) and birth weight (BW) were not significantly correlated. Cox regression models were used to evaluate main effects and interactions of exposure with BW and GA as independent predictors and time-invariant covariates. Significant main effects remained for exposure on root and suck when controlling for GA and BW, such that exposed animals were relatively delayed in time-to-criterion. Interaction models indicated there were various interactions between exposure, GA, and BW and that inclusion of the relevant interaction terms significantly improved model fit. This, in turn, indicated that lower BW and/or lower GA exacerbated the adverse effects following vaccine exposure. This primate model provides a possible means of assessing adverse neurodevelopmental outcomes from neonatal Th-containing hepatitis B vaccine exposure, particularly in infants of lower GA or BW. The mechanisms underlying these effects and the requirements for Th requires further study.
Occupational Therapy Wellness Program: Youth and Parent Perspectives.

OBJECTIVE In this study, we explored the impact of an occupational therapy wellness program on daily habits and routines through the perspectives of youth and their parents. METHOD Data were collected through semistructured interviews with children and their parents, the Pizzi Healthy Weight Management Assessment(©), and program activities. RESULTS Three themes emerged from the interviews: Program Impact, Lessons Learned, and Time as a Barrier to Health. The most common areas that both youth and parents wanted to change were time spent watching television and play, fun, and leisure time. Analysis of activity pie charts indicated that the youth considerably increased active time in their daily routines from Week 1 to Week 6 of the program. CONCLUSION An occupational therapy program focused on health and wellness may help youth and their parents be more mindful of their daily activities and make health behavior changes.
Transforming growth factor-beta1 induces desmoplasia in an experimental model of human pancreatic carcinoma.

Proliferation of fibrotic tissue (desmoplasia) is one of the hallmarks of several epithelial tumors including pancreatic adenocarcinoma. This tissue reaction may be deleterious or advantageous to the host or tumor. In a systematic analysis, we identified two growth factors expressed by human pancreatic carcinoma cells that are positively correlated with the ability to induce fibroblast proliferation both in vitro and in vivo, i.e., transforming growth factor (TGF)-beta1 and fibroblast growth factor-2. Here we demonstrate that the overexpression of TGF-beta1 induced up-regulation of matrix proteins and growth factors in the TGFbeta1-transfected pancreatic tumor cells. Furthermore, transfection of PANC-1 cells induces the same change in fibroblasts in either cocultivation experiments or when they are grown in conditioned medium from TGF-beta1-transfected PANC-1 cells. TGF-beta1-transfected pancreatic tumor cells induced a rich stroma after orthotopical transplantation in the nude mouse pancreas. The transfer of a single growth factor, TGF-beta1, conveys the ability to induce a fibroblast response similar to that seen in desmoplasia in human pancreatic adenocarcinoma. This effect cannot only be attributed to direct effects of TGF-beta1 but also results from the up-regulation of several other factors including collagen type I, connective tissue growth factor, and platelet-derived growth factor.
Effects of amphibian chytrid fungus exposure on American toads in the presence of an insecticide

Abiotic factors such as pesticides may alter the impact of a pathogen on hosts, which could have implications for host–pathogen interactions and may explain variation in disease outbreaks in nature. In the present laboratory experiment, American toad (Anaxyrus americanus) metamorphs were exposed to the amphibian chytrid fungal pathogen Batrachochytrium dendrobatidis (Bd) and environmentally relevant concentrations of the insecticide malathion to determine whether malathion altered the effects of Bd exposure on growth and survival of toad metamorphs. Exposure to Bd significantly decreased survival over the 51 d of the experiment, suggesting that Bd could reduce recruitment into the terrestrial life stage when exposure occurs at metamorphosis. Malathion did not impact survival, but a 12‐h exposure at metamorphosis significantly reduced terrestrial growth. Toads that were exposed to both Bd and malathion showed a nonsignificant trend toward the smallest growth compared with other treatments. The present study suggests that Bd may pose a threat to American toads even though population declines have not been observed for this species; in addition, the presence of both the insecticide malathion and Bd could reduce terrestrial growth, which could have implications for lifetime fitness and suggests that environmental factors could play a role in pathogen impacts in nature. Environ Toxicol Chem 2014;33:2541–2544. © 2014 SETAC
Conjunctive Use of Surface Water and Groundwater Management

A mathematical model is presented for conjunctive management of connected surface and groundwater systems. The groundwater module is based on the linear, two-dimensional, horizontal flow equations under equilibrium conditions in a heterogeneous and anisotropic medium. The surface water component includes streams and lakes. Both types of elements are represented by the hydrological storage equations. Surface and groundwater components are coupled through continuity of mass and pressure heads. The solution is obtained for a set of hydraulic and management constraints by using a standard linear programming package.