Miracle-dz/UniFAR-FTUs huggingface dataset:
The Troubled Helix: Social and Psychological Implications of the New Human Genetics

This excellent compilation of essays covers a broad range of genetic topics and is a must for anyone interested in the ethical, social, legal, and historical perspectives of human genetics. This is not a new edition but a paperback version of the 1996 edition. The book begins with a section on “the voices of family members whose lives have been deeply touched by genetic disease”. There are ten very moving accounts of individuals' experiences of a range of different …
Associação entre cagA e alelos do vacA de Helicobacter pylori e úlcera duodenal em crianças no Brasil

Helicobacter pylori is now accepted as the most important agent of gastritis in humans and as a risk factor for ulcer disease and gastric carcinoma ethiopathogenesis. The outcome of the infection is associated with several factors, among them bacterial ones such as cagA and vacA s1 genotype. We aimed to investigate the association between cagA and vacA genotypes in H. pylori strains isolated from children and to correlate these findings with patient's disease. A total of 65 children (24 with duodenal ulcer and 41 without gastric or duodenal ulcer) were included in the study. CagA and vacA alleles were identified by PCR in bacterium strains isolated from the gastric mucosa of the studied group. Multiple-strain infection was detected in 10 (15.4%) patients. Among children with nonmixed infection, s1 allele was found in H. pylori strains isolated from 40 (72.7%), and m1 allele in strains obtained from 34 (61.8%). CagA was found in bacterium strains isolated from 38 (69.1%) patients. Association between cagA and s1-m1 genotype (p = 10-7), and between these genotypes and duodenal ulcer (p = 0.073 and p = 0.037, respectively) was observed. In conclusion, multiple-strain infection is frequent in Brazilian children. H. pylori strains harbouring, simultaneously, cagA and vacA s1-m1 genotypes are the most frequent in our pediatric population and are associated to ulcer disease.
Análise crítica do cortisol salivar na avaliação do eixo hipotálamo-hipófise-adrenal

Measurement of salivary cortisol, which evaluates the free form of the hormone, has become popular following the development of commercial assays. This article evaluates the different assays available for measurement of salivary cortisol, and its clinical application in some physiological and pathological conditions. Measurement of salivary cortisol has been extensively used to evaluate cortisol circadian rhythm and adrenal insufficiency, in the first days of life of full-term and pre-term infants, and to evaluate the hypothalamic-pituitary-adrenal axis (HPA) activity in adults and children with cognitive impairment, major depression, stress, anxiety, panic syndrome, chronic fatigue syndrome, and sleep deprivation in shift workers. Measurement of salivary cortisol is also used in the diagnosis of Cushing syndrome, in adults and children. These studies demonstrate that midnight salivary cortisol measurement has higher diagnostic sensitivity compared to all other previously analyzed parameters, in detecting Cushing syndrome (CS), even in patients with intermittent or mild hypercortisolism. Using salivary cortisol measurement, we evaluated the diagnostic accuracy of the high dose dexamethasone (DEX, 8mg and 24 mg) suppression test in the differential diagnosis of CS. Our data suggest that salivary cortisol compared to plasma cortisol improved the diagnostic accuracy of high dose DEX suppression tests, even using more rigorous criteria of suppression. It is critical that researchers and clinicians must be aware of the differences generated in different salivary cortisol assays, in order to interpret the intervals of references adequately. Thus, salivary cortisol assays should be chosen and interpreted based on assay-specific normative data in combination with results from patients suspected but proven not to have CS. We also suggest that commercial laboratories consider large-scale validation of these assays to make them widely available to practicing clinicians.
Classification Systems for Stalking Behavior

Stalking is a complex behavioral phenomenon that is unique in that it necessarily involves a prolonged dyadic relationship between both a perpetrator and a victim. Since criminalization of stalking behavior in the 1990s, different conceptual typologies have attempted to classify this behavior to assess risk and aid in management decisions. The authors reviewed the current literature regarding the most recent and accepted stalking classification systems. The three predominant stalker typologies currently in use include Zona's stalker–victim types, Mullen's stalker typology, and the RECON stalker typology. Of these, the RECON classification system alone was developed in an attempt to separate stalkers into groups based on previously known risk factors for behaviorally based phenomenon such as propensity for violence. Understanding and simplifying these classification systems may enhance the potential that new research will lead to evidence‐based management and treatment strategies in the stalking situation.
Metal Behavior during Surface-Groundwater Interaction, Silver Bow Creek, Montana.

This work documents the geochemical character of the hyporheic zone in the bed sediment of a small creek underlain by acidic, metal-rich groundwater. Use of a unique in situ method of sampling the solid-phase chemistry (elemental composition of coatings on installed ceramic beads) combined with water chemistry data allowed us to build a more complete picture of the geochemistry during surface-groundwater interaction. A mixing ratio of 96 :4 surface water (pH ≃ 7.9-9.1, [Fe] ≃ 0.2 mg/L) to contaminated groundwater (pH ≃ 4.2 - 4.9, [Fe] ≃ 400 mg/L) can explain the composition of the ∼1 m thick hyporheic zone. Accumulations of metals on the ceramic beads support nonconservative behavior predicted by mixing ratios and show partitioning between the solid and aqueous phases. The behavior of metal contaminants in this system is discussed.
Workload synthesis: Generating benchmark workloads from statistical execution profile

We propose an approach for benchmark workload generation. The proposed workload synthesis generates synthetic workloads that model the behavior of real applications. Statistical execution profile of a workload is constructed from hardware performance counters available in recent processors, and the overhead of profiling is significantly lower than instrumentation or simulation which requires inspection of instruction stream. Workload synthesis can be applied even though the source codes or binaries of real applications are not available, because it utilizes only statistical profile. In addition, for non-deterministic workloads, using synthetic workloads provides more consistent results than executing real workloads, since a synthetic workload replays predetermined instructions reconstructed from the execution profile of a real workload. Furthermore, with a sampling technique, we can reduce the execution time of synthetic workloads while preserving its run-time characteristics. We have implemented and evaluated the proposed method on ARM-based mobile devices. The results show that synthetic workloads reproduce the profiled performance event counts of real workloads with high accuracy.
Injuries of the Head from Backface Deformation of Ballistic Protective Helmets Under Ballistic Impact

Modern ballistic helmets defeat penetrating bullets by energy transfer from the projectile to the helmet, producing helmet deformation. This deformation may cause severe injuries without completely perforating the helmet, termed “behind armor blunt trauma” (BABT). As helmets become lighter, the likelihood of larger helmet backface deformation under ballistic impact increases. To characterize the potential for BABT, seven postmortem human head/neck specimens wearing a ballistic protective helmet were exposed to nonperforating impact, using a 9 mm, full metal jacket, 124 grain bullet with velocities of 400–460 m/s. An increasing trend of injury severity was observed, ranging from simple linear fractures to combinations of linear and depressed fractures. Overall, the ability to identify skull fractures resulting from BABT can be used in forensic investigations. Our results demonstrate a high risk of skull fracture due to BABT and necessitate the prevention of BABT as a design factor in future generations of protective gear.
Effect of Intraduodenal Infusion of Acid on the Antropyloroduodenal Motor Unit in Human Volunteers

Intraduodenal acid has been shown to delay gastric emptying. We have investigated the effect of infusing hydrochloric acid into the duodenum on the motor activity of the gastric antrum, pylorus, and duodenum in 18 healthy volunteers. Pressures in the gastric antrum, pylorus, and duodenum and the pH in the antrum and duodenum were recorded in response to alternate duodenal infusions of normal saline and 0.1 M isotonic hydrochloric acid at constant (1 or 2 ml/min) or increasing (1, 2, 3.75, and 5 ml/min) rates. Repetitive infusions of acid (1 or 2 ml/min) were associated with 1) a decrease in antral pressure waves (p < 0.05), 2) a reduction in coordinated pressure waves involving the duodenum (p < 0.05) and replacement by random contractile activity, and 3) an increase in isolated pyloric pressure waves (IPPWs) (p < 0.05). Increasing the rate of acid infusion reduced the rate of coordinated contractions involving the antrum (r = ‐0.39; p < 0.01) and increased the rate of IPPWs (r = 0.45; p < 0.01). There were significant correlations between the percentage of time that the duodenal pH was less than 2, and both the rate of coordinated contractions involving the antrum (r = ‐0.28; p < 0.01) and the rate of IPPWs (r = 0.34; p < 0.01). These changes in antropyloroduodenal motor activity may contribute to the delay in emptying of acidic solutions from the stomach.
Toward victory in adult ALL: blinatumomab joins in.

The study by Topp et al in this issue of Blood confirms that blinatumomab can significantly reduce the relapse risk and improve survival in patients with minimal residual disease (MRD)+ B-precursor acute lymphoblastic leukemia (ALL). [1][1] Blinatumomab is the result of an original translational
Neural network application for robotic motion control-adaptation and learning

The authors consider neural network applications to robotic motion control in which the controller is used for the position and force control of robotic manipulators. The proposed neural servo controller is based on a neural network consisting of two hidden layers and input/output layers. The controller can adjust the neural network output to the robot in the forward manner to cooperate with the feedback loop, depending on unknown characteristics of handling objects. In particular, the proposed neural network has delay elements in itself, so that it can learn the dynamics of the system. Simulations are carried out for the case of one- and two-dimensional robotic manipulators. The performance of the proposed neural servo controller is shown in terms of its frequency response, and the robustness against impulsive noises is also shown. The authors propose a fuzzy turbo to avoid stagnation, so that the neural network can learn the dynamical system quickly
Comparison of the efficacy of rabbit and horse antithymocyte globulin for the treatment of severe aplastic anemia in children.

To the editor: Immunosuppressive therapy (IST) with horse antithymocyte globulin (h-ATG) and cyclosporine (CSA) is an effective therapy for aplastic anemia (AA), resulting in a response rate of 60%-70% and an excellent survival for responders. However, lymphoglobulin (h-ATG; Genzyme) was withdrawn
CD30 expression defines a novel subgroup of diffuse large B-cell lymphoma with favorable prognosis and distinct gene expression signature: a report from the International DLBCL Rituximab-CHOP Consortium Program Study.

CD30, originally identified as a cell-surface marker of Reed-Sternberg and Hodgkin cells of classical Hodgkin lymphoma, is also expressed by several types of non-Hodgkin lymphoma, including a subset of diffuse large B-cell lymphoma (DLBCL). However, the prognostic and biological importance of CD30 expression in DLBCL is unknown. Here we report that CD30 expression is a favorable prognostic factor in a cohort of 903 de novo DLBCL patients. CD30 was expressed in ∼14% of DLBCL patients. Patients with CD30(+) DLBCL had superior 5-year overall survival (CD30(+), 79% vs CD30(-), 59%; P = . 001) and progression-free survival (P = .003). The favorable outcome of CD30 expression was maintained in both the germinal center B-cell and activated B-cell subtypes. Gene expression profiling revealed the upregulation of genes encoding negative regulators of nuclear factor κB activation and lymphocyte survival, and downregulation of genes encoding B-cell receptor signaling and proliferation, as well as prominent cytokine and stromal signatures in CD30(+) DLBCL patients, suggesting a distinct molecular basis for its favorable outcome. Given the superior prognostic value, unique gene expression signature, and significant value of CD30 as a therapeutic target for brentuximab vedotin in ongoing successful clinical trials, it seems appropriate to consider CD30(+) DLBCL as a distinct subgroup of DLBCL.
Removal of cadmium, lead, and zinc from soil by a rhamnolipid biosurfactant.

Complexation of cadmium, lead, and zinc (singly and in a mixture) by a monorhamnolipid biosurfactant produced by Pseudomonas aeruginosa ATCC 9027 was studied in batch solution and soil experiments. Conditional stability constants (log K L ) for metalrhamnolipid complexation in a buffered medium (0.1 M Pipes, pH 6.8) were determined in duplicate using an ion-exchange technique and averaged 6.5 (Cd 2+ ), 6.6 (Pb 2+ ), and 5.4 (Zn 2+ ) ; these values are similar or slightly higher than literature values for Cd 2+ and Pb 2+ complexation with fulvic acid and activated sludge solids. To determine the ability of rhamnolipid to desorb soil-bound metals, rhamnolipid solutions (12.5, 25, 50, and 80 mM) were added to soil containing sorbed Cd 2+ (1.46 mmol kg -1 ), Pb 2+ (1.96 mmol kg -1 ), or a mixture of Pb 2+ -Cd 2+ -Zn 2+ (3.4 mmol kg -1 ). At 12.5 and 25 mM rhamnolipid, rhamnolipid sorption to soil exceeded 78%, and less than 11% of soil-bound Cd 2+ and Zn 2+ was desorbed. However, ion exchange of bound metals with K + present in the rhamnolipid matrix could account for the removal of between 16 and 48% of the sorbed Cd 2+ and Zn 2+ . At 50 and 80 mM rhamnolipid, rhamnolipid sorption to soil decreased to between 20 and 77%, and the removal of Cd 2+ and Zn 2+ could exceed the removal by ion exchange by as much as 3-fold. The behavior of Pb 2+ was quite different. Less than 2% of soil-bound Pb 2+ was desorbed due to ion exchange, although up to 43% was desorbed by 80 mM rhamnolipid.
Prospective evaluation of gene mutations and minimal residual disease in patients with core binding factor acute myeloid leukemia.

Not all patients with core binding factor acute myeloid leukemia (CBF-AML) display a good outcome. Modern risk factors include KIT and/or FLT3 gene mutations and minimal residual disease (MRD) levels, but their respective values have never been prospectively assessed. A total of 198 CBF-AML patients were randomized between a reinforced and a standard induction course, followed by 3 high-dose cytarabine consolidation courses. MRD levels were monitored prospectively. Gene mutations were screened at diagnosis. Despite a more rapid MRD decrease after reinforced induction, induction arm did not influence relapse-free survival (RFS) (64% in both arms; P = .91). Higher WBC, KIT, and/or FLT3-ITD/TKD gene mutations, and a less than 3-log MRD reduction after first consolidation, were associated with a higher specific hazard of relapse, but MRD remained the sole prognostic factor in multivariate analysis. At 36 months, cumulative incidence of relapse and RFS were 22% vs 54% (P < .001) and 73% vs 44% (P < .001) in patients who achieved 3-log MRD reduction vs the others. These results suggest that MRD, rather than gene mutations, should be used for future treatment stratifications in CBF-AML patients. This trial was registered at EudraCT as #2006-005163-26 and at www.clinicaltrials. gov as #NCT 00428558.
Reflections on the past, present and future of pediatric cardiology

Summary About 1.5 million children are born each year world-wide with congenital heart disease. The nine most frequently occurring lesions are patency of the arterial duct (ductus arteriosus), atrial septal defect within the oval fossa, atrioventricular septal defect, ventricular septal defect, coarctation of the aorta, valvar pulmonary stenosis, valvar aortic stenosis, tetralogy of Fallot, and complete transposition. Their natural history is presented and compared with representative results of surgical treatment. Surgery has markedly improved the outcome for all these lesions, although almost no patients have been followed postoperatively for more than 25 years. Because congenital heart lesions are likely to consume an increasing proportion of cardiological resources in future years, the long-term future in this field rests with prevention of these lesions if at all possible. Recent advances in molecular and developmental biology, some of which are discussed, will certainly aid in diagnosis and may well bring the time at which prevention can be achieved closer to reality.
Determination of waterborne bioavailable organochlorine pesticide residues in the lower missouri river.

The semipermeable membrane device (SPMD) technology, was used to determine the presence of bioavailable organochlorine (OC) pesticides in the water of the main stem Missouri River. SPMDs were deployed for 28 days at five main stem sites - Sioux City, IA; Nebraska City,NE; Kansas City, MO; Glasgow, MO; and Hermann, MO. In general, OCs were present at all sites. Of all targeted analytes, the chlordane components, heptachlor expoxide, toaxaphene, and dieldrin were generally present at the highest concentrations. Replicate (n = 4) SPMD samplers sequestered similar quantities (typical CV = 10-35% ) of each OC pesticide. The sequestered residues represent an estimation of bioavailable (by respiration process) or dissolved OCs present in the main stem of the Missouri River.
Analysis of Forensic Autopsy in 120 Cases of Medical Disputes Among Different Levels of Institutional Settings

Despite advances in medical science, the causes of death can sometimes only be determined by pathologists after a complete autopsy. Few studies have investigated the importance of forensic autopsy in medically disputed cases among different levels of institutional settings. Our study aimed to analyze forensic autopsy in 120 cases of medical disputes among five levels of institutional settings between 2001 and 2012 in Wenzhou, China. The results showed an overall concordance rate of 55%. Of the 39% of clinically missed diagnosis, cardiovascular pathology comprises 55.32%, while respiratory pathology accounts for the remaining 44. 68%. Factors that increase the likelihood of missed diagnoses were private clinics, community settings, and county hospitals. These results support that autopsy remains an important tool in establishing causes of death in medically disputed case, which may directly determine or exclude the fault of medical care and therefore in helping in resolving these cases.
Dynamics of an Infectious Disease Where Media Coverage Influences Transmission

There is significant current interest in the application of media/psychosocial effects to problems in epidemiology. News reporting has the potential to reach and to modify the knowledge, attitudes, and behavior of a large proportion of the community. A susceptible-infected-hospitalized-recovered model with vital dynamics, where media coverage of disease incidence and disease prevalence can influence people to reduce their contact rates is formulated. The media function is incorporated into the model using an exponentially decreasing function. Qualitative analysis of the model reveals that the disease-free equilibrium is locally asymptotically stable when a certain threshold is less than unity. Numerical results show the potential short-term beneficial effect of media coverage.
UGT2B17 as a disease accelerator in CLL.

In this issue of Blood , Gruber and colleagues provide a new potential enzyme involved in chronic lymphocytic leukemia (CLL) progression by identifying uridine diphospho (UDP) glucuronosyltransferase 2B17 ( UGT2B17 ) as both a prognostic marker and therapeutic target. [1][1] CLL is characterized by
Vitamin D3Toxicity in Dairy Cows

Large parenteral doses of vitamin D3 (15 to 17.5 x 10(6) IU vitamin D3) were associated with prolonged hypercalcemia, hyperphosphatemia, and large increases of vitamin D3 and its metabolites in the blood plasma of nonlactating nonpregnant and pregnant Jersey cows. Calcium concentrations 1 day postpartum were higher in cows treated with vitamin D3 about 32 days prepartum (8.8 mg/100 ml) than in control cows (5.5 mg/100 ml). None of the cows treated with vitamin D3 showed signs of milk fever during the peripartal period; however, 22% of the control cows developed clinical signs of milk fever during this period. Signs of vitamin D3 toxicity were not observed in nonlactating nonpregnant cows; however, pregnant cows commonly developed severe signs of vitamin D3 toxicity and 10 of 17 cows died. There was widespread metastatic calcification in the cows that died. Because of the extreme toxicity of vitamin D3 in pregnant Jersey cows and the low margin of safety between doses of vitamin D3 that prevent milk fever and doses that induce milk fever, we concluded that vitamin D3 cannot be used practically to prevent milk fever when injected several weeks prepartum.
Oxidation capacity of aquifer sediments.

A laboratory extraction method (Ti 3+ -EDTA extraction) for the determination of the oxidation (electron accepting) capacity related to oxides and hydroxides of aquifer sediments was developed. At room temperature, titanous ions (0.008 M Ti 3+ ) in a solution of 0.05 M ethylenediaminetetraacetic acid (EDTA) reduced oxidized aquifer species. This operationally defined oxidation capacity (ORC) was determined as μmoles of electrons accepted per gram of sediment sample. Well-described oxidized iron and manganese minerals were reduced (ferrihydrite 98%, akageneite 100%, goethite and hematite 93%,magnetite 9%, pyrolmite 99%) whereas organic matter in the sediments was not reduced significantly
Application of a permeant/polymer diffusional model to the desorption of polychlorinated biphenyls from Hudson River sediments.

The desorption of polychlorinated biphenyls (PCBs) from Hudson River sediments was examined using XAD-4 resin as a PCB adsorbent. Both a rapidly desorbing labile component and a more slowly desorbing resistant component were observed. The fraction of PCBs in the resistant component was found to be a function of PCB concentration and total organic carbon in the sediment, independent of inorganic particle size. Milling the sediment had no effect on PCB desorption, while pretreatment of the sediment using heat (with and without caustic addition) enhanced the rate ofdesorption and significantly decreased the resistant fraction. We propose that the labile and resistant fractions arise from disparate diffusional rates of PCBs from the swollen and condensed phases of the sediment organic matter