Miracle-dz/UniFAR-FTUs huggingface dataset:
Biallelic Inactivation of BRCA2 in Fanconi Anemia

Fanconi anemia (FA) is a rare autosomal recessive cancer susceptibility disorder characterized by cellular hypersensitivity to mitomycin C (MMC). Six FA genes have been cloned, but the gene or genes corresponding to FA subtypes B and D1 remain unidentified. Here we show that cell lines derived from FA-B and FA-D1 patients have biallelic mutations in BRCA2 and express truncated BRCA2 proteins. Functional complementation of FA-D1 fibroblasts with wild-typeBRCA2 complementary DNA restores MMC resistance. Our results link the six cloned FA genes with BRCA1 and BRCA2in a common pathway. Germ-line mutation of genes in this pathway may result in cancer risks similar to those observed in families withBRCA1 or BRCA2 mutations.
Dialect-neutral indices of narrative cohesion and evaluation.

PURPOSE This study compared the development of essential elements of narrative skill in children from African American English (AAE)- and general American English (GAE)-speaking communities using an innovative elicitation and evaluation protocol consisting of four key indices of narrative language: (a) reference contrasting, (b) temporal expressions, (c) mental state descriptions, and (d) understanding of behavior based on false belief. METHOD Participants were 291 AAE speakers and 238 GAE speakers, 4 to 9 years of age. Approximately one-third of both dialect groups were identified as having language impairments. Children generated 2 stories based on short picture sequences. Their stories were coded for the 4 key indices of narrative language. Analyses of variance were performed with subsets of the measures and a composite index with all measures combined as outcomes; and with age, dialect group, and clinical status as predictors. RESULTS Age and clinical status had statistically significant effects on the subset measures and the composite score. Variation between AAE and GAE dialect was not a significant factor. CONCLUSION By focusing on dialect-neutral elements of narratives--creating links across sentences and providing mental state interpretations--this study adds to our knowledge of development and impairment in narrative production among both AAE- and GAE-background children.
Delayed Neurodegeneration in Neonatal Rat Thalamus after Hypoxia–Ischemia Is Apoptosis

Brain injury in newborns can cause deficits in motor and sensory function. In most models of neonatal brain injury, thalamic damage often occurs. Using the Rice–Vannucci model of neonatal hypoxic–ischemic brain injury, we have shown that neuronal degeneration in somatosensory thalamus is delayed in onset (∼24 hr) compared with cortical and striatal injury and exhibits prominent structural features of apoptosis. In the present study, we examined whether cell death in the thalamus has molecular features of apoptosis. Fas death receptor protein expression increased rapidly after neonatal hypoxia–ischemia, in concert with cleavage of procaspase 8 to its active form. Concurrently, the levels of Bax in mitochondrial-enriched cell fractions increase, and cytochrome c accumulates in the soluble fraction. Mitochondria accumulate in a perinuclear distribution by 6 hr after hypoxia–ischemia. Cytochrome oxidase subunit 1 protein levels also increase at 6 hr after hypoxia–ischemia. Increased levels of Fas death receptor, Bax, and cytochrome c, activation of caspase 8, and abnormalities in mitochondria in the thalamus significantly precede the activation of caspase 3 and the appearance of neuronal apoptosis at 24 hr. We conclude that the delayed neurodegeneration in neonatal rat ventral basal thalamus after hypoxic–ischemic injury is apoptosis mediated by death receptor activation.
Altered glial fibrillary acidic protein content and its degradation in the hippocampus, cortex and cerebellum of rats exposed to constant light: reversal by melatonin

Abstract: Reactive astrocytosis is a well‐known phenomenon that occurs rapidly after physical or metabolic injury to the brain. One of the important events during astrocyte differentiation is the increased expression of glial fibrillary acidic protein (GFAP), a member of the family of intermediate filament structural proteins. Free radicals are neurotoxic and free radical scavengers have been shown to protect the brain against neurotoxic damage. In the present study, we examined the effect of melatonin on astrocytic reactivity by determining the expression of the glial marker, GFAP, in different brain regions. Rats were exposed to constant light to reduce endogenous melatonin production; half of the animals were injected with melatonin during the exposure to constant light for 7 days. Western blots showed increases in total and degraded GFAP content in the brain of rats exposed to constant light. Melatonin admisnistration caused a reduction of degraded GFAP content. In addition, melatonin significantly reduced neural tissue lipid peroxidation while constant light significantly enhanced the breakdown of lipids in the brain. Brain glutathione levels decreased significantly as a result of constant light exposure; this reduction was reversed by melatonin administration. These results suggest that melatonin potentially protects both neurons and glial cells from free radicals; melatonin's protective actions are probably related to the antioxidant properties of the indole.
Prediction of five-year survival following presentation with scleroderma: development of a simple model using three disease factors at first visit.

OBJECTIVE To identify combinations of easily acquired clinical variables, at first presentation with scleroderma, that would predict subsequent mortality. METHODS In this prospective study of all new patients at one major scleroderma center, 280 patients with definite scleroderma (according to the American College of Rheumatology criteria) whose disease onset occurred from 1982 to 1991 and who were followed up to the end of 1996 were identified. Standardized data collection was performed at entry to obtain data on major clinical and laboratory variables. Vital status was determined by linkage to the National Death Index. RESULTS At 5 years, 55 (26%) of 215 women and 21 (32%) of 65 men had died. Univariate analysis showed that older age, diffuse skin disease, higher skin score, low carbon monoxide diffusing capacity, abnormal electrocardiogram findings, proteinuria, hematuria, low hemoglobin level, elevated erythrocyte sedimentation rate (ESR), and presence of antitopoisomerase antibody were all associated with increased mortality. A logistic regression model, validated by Monte Carlo simulation, identified 3 factors, proteinuria, elevated ESR, and low carbon monoxide diffusing capacity, that in combination, had an accuracy of >80% in predicting mortality. The absence of these 3 factors was associated with 93% survival. CONCLUSION A simple model has been developed that appears to accurately predict mortality over 5 years in a cohort of patients newly presenting with scleroderma.
Receiver Operating Characteristic Analysis on Fasting Plasma Glucose, HbA1c, and Fructosamine on Diabetes Screening

Objective To determine the efficacy of HbA1c and fructosamine as alternatives to fasting plasma glucose (FPG) for diabetes screening. Research Design and Methods Receiver operating characteristic (ROC) analysis was conducted on the above tests. Comparison among tests was based on the area under ROC curve of a test. World Health Organization criteria for classifying glucose tolerance status of the subjects was used. The study consisted of subjects (n = 583) who visited the clinic from September to October 1989 and all diabetic cases (n = 36) from November 1989 to March 1990, after excluding those < 40 yr of age or with hypoglycemic therapies (469 were normal, 88 with impaired glucose tolerance [IGT], and 62 with diabetes). Results Area under ROC curve of HbA1c was not different from that of FPG. Area under curve of fructosamine was significantly smaller than that of FPG. For all tests, overall efficacy of a test to detect IGT and diabetes was considerably diminished compared with detection of diabetes alone. Conclusions The discriminating ability of HbA1c is almost the same as that of FPG, therefore HbA1c is a good alternative to FPG. Fructosamine is not suitable for diabetes screening.
Absence of DNA overreplication in Chinese hamster cells incubated with inhibitors of DNA synthesis.

Previous reports have suggested that transient inhibition of DNA synthesis by chemicals or ultraviolet light causes some of the DNA to replicate more than once in one cell cycle, i.e., that it induces overreplication of DNA. The data that led to this suggestion were obtained from cesium chloride equilibrium density gradient analyses, in which cells were incubated with bromodeoxyuridine so that the DNA synthesized after incubation with the inhibitor could be densitometrically separated from the DNA that had been radioactively labeled before incubation with the inhibitor. An unresolved problem with these analyses was that the data also suggested that overreplication must have occurred in control cells, i.e., those not incubated with an inhibitor of DNA synthesis. We show here that the latter result is probably due to an artifact of cesium chloride equilibrium density gradient analysis, probably because of nonspecific trapping of DNA in regions of the gradients where there are large amounts of DNA. We also used another protocol that avoids this artifact; with this protocol any overreplicated DNA would be found where heavy-heavy DNA bands and nonspecific trapping cannot occur. When this protocol was used there was no evidence that transient inhibition of DNA synthesis induces overreplication of DNA.
Psychosocial Factors Influencing Attitudes Towards Internet Piracy among Nigerian University Students

The study investigated psychosocial factors influencing attitude towards internet piracy among Nigerian University students. The ex-post factor research design was adopted. In all a total of two hundred and fifty participants were drawn through accidental sampling technique for this study. Their age ranged between 19-48 years. Three hypothesis were generated and subsequently tested using appropriated statistical tools. The outcome of the tested hypothesis revealed that sex difference was not found to significantly influence attitude towards internet piracy (t(2,248) = - 3.47, P . 05). In the same view, consumers ethnic group was not found to significantly influence attitude towards Internet piracy (F(3,246) = . 404, P> . 05). Reasons were given why the outcome of this present study negates the outcome of previous study with emphasis on the socio-political situation in Nigeria. Based on this outcome, conclusions were drawn and recommendations were made. IFE PsychologIA Vol. 16 (1) 2007: pp. 120-130
Microcirculatory Responses to Adenosine in the Newborn Pig Retina

ABSTRACT: The reactivity of retinal arterioles and ven-ules to exogenous and endogenous adenosine was investigated in the newborn piglet eye in vivo. The retinal micro-circulation of isoflurane-anesthetized newborn pigs was observed at 310× using videomicroscopy, and changes in the diameter of arterioles (50–100 μm in diameter) and venules (150–250 μm in diameter) occurring in response to intravitreal topical microsuffusions of various adenosi-nergic compounds were determined. Dose-dependent dilations of the arterioles and venules resulted from intravitreal adenosine (0.2–200 nmol) and three of its agonists: 5′-N-ethylcarboxyamidoadenosine (0.2–20 pmol), 2-chloroaden-osine (0.2 pmol-2 nmol), and N6-cyclohexyladenosine (0.2 and 2.0 nmol). The resulting order of vasodilatative potency, wherein 5′-N-ethylcarboxyamidoadenosine ≫ 2-chloroadenosine > adenosine = N6-cyclohexyladenosine, is indicative of A2 adenosine receptor-mediated vasodilation. Significant arteriolar dilations [24 ± 4% (p = 0.0012) and 35 ± 5% (p = 0.0008), respectively) also resulted from intravitreal application of 0.2 nmol of iodotubercidin, an adenosine kinase inhibitor, and 0.1 nmol of nitrobenzyl-thioinosine, an inhibitor of adenosine reuptake/transport. The dilation induced by nitrobenzylthioinosine was blocked (p < 0.0004) by coadministration of the relatively specific A2 adenosine receptor antagonist l,3-dipropyl-7-methylxanthine (1 nmol), confirming that nitrobenzylthioinosine induced dilation via potentiation of endogenous adenosine. Administration of 1,3-dipropyl-7-methyIxan-thine alone did not significantly affect arteriolar or venular diameters, suggesting that endogenous adenosine does not contribute to the maintenance of basal tone. Collectively, these results indicate that vascular A2 adenosine receptors mediate retinal arteriolar dilation in response to increases in endogenous adenosine concentrations, consistent with our hypothesis that endogenous interstitial adenosine plays an important role in the metabolic regulation of retinal blood flow.
Electrophysiological Indices of Target and Distractor Processing in Visual Search

Attentional selection of a target presented among distractors can be indexed with an event-related potential (ERP) component known as the N2pc. Theoretical interpretation of the N2pc has suggested that it reflects a fundamental mechanism of attention that shelters the cortical representation of targets by suppressing neural activity stemming from distractors. Results from fields other than human electrophysiology, however, suggest that attention does not act solely through distractor suppression; rather, it modulates the processing of both target and distractors. We conducted four ERP experiments designed to investigate whether the N2pc reflects multiple attentional mechanisms. Our goal was to reconcile ostensibly conflicting outcomes obtained in electrophysiological studies of attention with those obtained using other methodologies. Participants viewed visual search arrays containing one target and one distractor. In Experiments 1 through 3, the distractor was isoluminant with the background, and therefore, did not elicit early lateralized ERP activity. This work revealed a novel contralateral ERP component that appears to reflect direct suppression of the cortical representation of the distractor. We accordingly name this component the distractor positivity (PD). In Experiment 4, an ERP component associated with target processing was additionally isolated. We refer to this component as the target negativity (NT). We believe that the N2pc reflects the summation of the PD and NT, and that these discrete components may have been confounded in earlier electrophysiological studies. Overall, this study demonstrates that attention acts on both target and distractor representations, and that this can be indexed in the visual ERP.
The platelet intracellular calcium response to serotonin in subsyndromal depression

The relationship of subsyndromal depression to syndromal depression is unclear. Increased sensitivity of platelet serotonin type 2 receptor has been reported in depression using the Fursi-2 technique. The sensitivity of the platelet serotonin type 2 receptor was assessed using the Fura-2 method in 16 patients with subsyndromal depression and 14 controls. The patient group had higher numerical values of both basal and serotonin-stimulated levels of platelet intracellular calcium that did not however reach Statistical significance.
Comparison of Bloodmeal Digestion and the Peritrophic Matrix in Four Sand Fly Species Differing in Susceptibility to Leishmania donovani

The early stage of Leishmania development in sand flies is closely connected with bloodmeal digestion. Here we compared various parameters of bloodmeal digestion in sand flies that are either susceptible (Phlebotomus argentipes and P. orientalis) or refractory (P. papatasi and Sergentomyia schwetzi) to Leishmania donovani, to study the effects on vector competence. The volume of the bloodmeal ingested, time of defecation of bloodmeal remnants, timing of formation and degradation of the peritrophic matrix (PM) and dynamics of proteolytic activities were compared in four sand fly species. Both proven vectors of L. donovani showed lower trypsin activity and slower PM formation than refractory species. Interestingly, the two natural L. donovani vectors strikingly differed from each other in secretion of the PM and midgut proteases, with P. argentipes possessing fast bloodmeal digestion with a very high peak of chymotrypsin activity and rapid degradation of the PM. Experimental infections of P. argentipes did not reveal any differences in vector competence in comparison with previously studied P. orientalis; even the very low initial dose (2×103 promastigotes/ml) led to fully developed late-stage infections with colonization of the stomodeal valve in about 40% of females. We hypothesise that the period between the breakdown of the PM and defecation of the bloodmeal remnants, i.e. the time frame when Leishmania attach to the midgut in order to prevent defecation, could be one of crucial parameters responsible for the establishment of Leishmania in the sand fly midgut. In both natural L. donovani vectors this period was significantly longer than in S. schwetzi. Both vectors are equally susceptible to L. donovani; as average bloodmeal volumes taken by females of P. argentipes and P. orientalis were 0.63 μl and 0.59 μl, respectively, an infective dose corresponding to 1–2 parasites was enough to initiate mature infections.
Characterization of genes required for the pathogenicity of Pectobacterium carotovorum subsp. carotovorum Pcc21 in Chinese cabbage

Pectobacterium carotovorum subsp. carotovorum is a well-known plant pathogen that causes severe soft rot disease in various crops, resulting in considerable economic loss. To identify pathogenicity-related factors, Chinese cabbage was inoculated with 5314 transposon mutants of P. carotovorum subsp. carotovorum Pcc21 derived using Tn5 transposon mutagenesis. A total of 35 reduced-virulence or avirulent mutants were isolated, and 14 loci were identified. The 14 loci could be functionally grouped into nutrient utilization (pyrD, purH, purD, leuA and serB), production of plant cell-wall-degrading enzymes (PCWDEs) (expI, expR and PCC21_023220), motility (flgA, fliA and flhB), biofilm formation (expI, expR and qseC), susceptibility to antibacterial plant chemicals (tolC) and unknown function (ECA2640). Among the 14 genes identified, qseC, tolC and PCC21_023220 are novel pathogenicity factors of P. carotovorum subsp. carotovorum involved in biofilm formation, phytochemical resistance and PCWDE production, respectively.
Graft rejection episodes after Descemet stripping with endothelial keratoplasty: part one: clinical signs and symptoms

Aim: To investigate characteristics of initial immunological graft rejection after Descemet stripping with endothelial keratoplasty (DSEK). Methods: The incidence, symptoms and clinical characteristics of initial immunological graft rejection episodes were analysed retrospectively in 598 eyes treated with primary DSEK at a single tertiary referral centre. Results: Graft rejection episodes occurred in 54 eyes of 48 patients. Thirty-five per cent of the eyes were asymptomatic and were diagnosed during routine examination. Signs of immunological rejection at the initial diagnosis included keratic precipitates (69%), diffuse corneal oedema (11%) or both (20%); no endothelial rejection lines were observed. In contrast to standard full-thickness grafts, there were no epithelial immunological reactions because the epithelium and anterior stroma are not transplanted in DSEK. Most grafts cleared; four (7%) progressed to graft failure and were successfully regrafted with DSEK. Conclusions: Immunological graft rejection is an important postoperative complication after DSEK. The range of clinical findings indicative of corneal graft rejection differs in some respects between DSEK and standard penetrating keratoplasty.
Children's Repeated Lies and Truths: Effects on Adults' Judgments and Reality Monitoring Scores

Deception research has not taken into account that children are often interviewed repeatedly about their experiences. This study is an experiment concerning adults' (n = 88) ability to correctly detect deception and truth in repeatedly interviewed children (11-year-olds), who had watched a live show by a magician, or had invented such an event. The overall accuracy (59%) was not significantly better than chance, in line with previous research. The three most frequent self-reported cues to deception were, in order, consistency between the child's statements, the child's confidence, and richness of detail. Truth-telling children were more prone to make both omissions and commissions than deceptive children. The reality monitoring technique was able to correctly discriminate between truthful and deceptive accounts. The theoretical and applied implications of the results are discussed.
Motion Planning in Dynamic Environments Using Velocity Obstacles

This paper presents a method for robot motion planning in dynamic environments. It consists of selecting avoidance maneuvers to avoid static and moving obstacles in the velocity space, based on the cur rent positions and velocities of the robot and obstacles. It is a first- order method, since it does not integrate velocities to yield positions as functions of time. The avoidance maneuvers are generated by selecting robot ve locities outside of the velocity obstacles, which represent the set of robot velocities that would result in a collision with a given obstacle that moves at a given velocity, at some future time. To ensure that the avoidance maneuver is dynamically feasible, the set of avoidance velocities is intersected with the set of admissible velocities, defined by the robot's acceleration constraints. Computing new avoidance maneuvers at regular time intervals accounts for general obstacle trajectories. The trajectory from start to goal is computed by searching a tree of feasible avoidance maneuvers, computed at discrete time intervals. An exhaustive search of the tree yields near-optimal trajectories that either minimize distance or motion time. A heuristic search of the tree is applicable to on-line planning. The method is demonstrated for point and disk robots among static and moving obstacles, and for an automated vehicle in an intelligent vehicle highway system scenario.
Examination of the relationship among positive behavioral interventions and supports implementation fidelity, school climate, and academic achievement

EXAMINATION OF THE RELATIONSHIP AMONG POSITIVE BEHAVIORAL INTERVENTIONS AND SUPPORTS, IMPLEMENTATION FIDELITY, SCHOOL CLIMATE, AND ACADEMIC ACHIEVEMENT Kelly Vaillancourt George Mason University, 2012 DissertationDirector: Dr. Penelope Earley The relationship among PBIS implementation fidelity, school climate, and academic achievement was examined over a three year period. No statistically significant differences were found between schools that implement PBIS with “gold standard” fidelity and schools that implement PBIS on the variables of school climate and academic achievement over time. Data analysis did not reveal statistically significant differences in academic achievement scores for schools that implement PBIS with gold standard fidelity and those that do not. However, an overall main effect for time was revealed on the outcome variable of school climate. For both groups of schools, measures school climate increased over time with statistically significant increases found between the first and third year of implementation as well and between the second and third year of implementation. The increases in school climate were greater, in terms of mean scores of school climate surveys, for schools that implement PBIS with gold standard fidelity.