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The analysis of STRs located on the X chromosome has been one of the strategies used to address complex kinship cases. Its usefulness is, however, limited by the low availability of population haplotype frequency data and lack of knowledge on the probability of mutations. Due to the large amount of data required to obtain reliable estimates, it is important to investigate the possibility of grouping data from populations with similar profiles when calculating these parameters. To better understand the partition of genetic diversity among human populations for the X-STRs most used in forensics, an analysis was carried out based on data available in the literature and new data (23,949 haplotypes in total; from these 10,445 new) obtained through collaborative exercises within the Spanish and Portuguese Working Group of the International Society for Forensic Genetics. Based on the available population data, a similarity in X-STR profiles was found in European populations, and in East Asian populations, except for some isolates. A greater complexity was found for African, South American, and South and Southeast Asian populations, preventing their grouping into large metapopulations. New segregation data on 2273 father/mother/daughter trios were also obtained, aiming for a more thorough analysis of X-STR mutation rates. After combining our data with published information on father/mother/daughter trios, no mutations were detected in 13 out of 37 loci analyzed. For the remaining loci, mutation rates varied between 2.68 × 10 -4 (DXS7133) and 1.07x10 -2 (DXS10135), being 5.2 times higher in the male (4.16 ×10 -3 ) than in the female (8.01 ×10 -4 ) germline., Competing Interests: Declaration of Competing Interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (Copyright © 2025 The Authors. Published by Elsevier B.V. All rights reserved.)

Oncogenic neurotrophic tropomyosin receptor kinase gene fusions occur in less than 1% of common cancers. These mutations have emerged as new biomarkers in cancer genomic profiling with the approval of selective drugs against tropomyosin receptor kinase fusion proteins. Nevertheless, the optimal pathways and diagnostic platforms for this biomarker's screening and genomic profiling have not been defined and remain a subject of debate. A panel of national experts in molecular cancer diagnosis and treatment was convened by videoconference and suggested topics to be addressed in the literature review. The authors proposed a testing algorithm for oncogenic neurotrophic tropomyosin receptor kinase gene fusion screening and diagnosis for the Brazilian health system. This review aims to discuss the latest literature evidence and international consensus on neurotrophic tropomyosin receptor kinase gene fusion diagnosis to devise clinical guidelines for testing this biomarker. We propose an algorithm in which testing for this biomarker should be requested to diagnose advanced metastatic tumors without known driver mutations. In this strategy, Immunohistochemistry should be used as a screening test followed by confirmatory next-generation sequencing in immunohistochemistry-positive cases., Competing Interests: The author(s) declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article., (© The Author(s) 2023.)

In this study, we have presented the genomic characterisation of UFJF_PfDIW6, a novel lytic Pseudomonas fluorescens -phage with potential for biocontrol in the dairy industry. This phage showed a short linear double-stranded DNA genome (~42 kb) with a GC content of 58.3% and more than 50% of the genes encoding proteins with unknown functions. Nevertheless, UFJF_PfDIW6's genome was organised into five functional modules: DNA packaging, structural proteins, DNA metabolism, lysogenic, and host lysis. Comparative genome analysis revealed that the UFJF_PfDIW6's genome is distinct from other viral genomes available at NCBI databases, displaying maximum coverages of 5% among all alignments. Curiously, this phage showed higher sequence coverages (38-49%) when aligned with uncharacterised prophages integrated into Pseudomonas genomes. Phages compared in this study share conserved locally collinear blocks comprising genes of the modules' DNA packing and structural proteins but were primarily differentiated by the composition of the DNA metabolism and lysogeny modules. Strategies for taxonomy assignment showed that UFJF_PfDIW6 was clustered into an unclassified genus in the Podoviridae clade. Therefore, our findings indicate that this phage could represent a novel genus belonging to the Podoviridae family.

The manufacture of humanoid robots with embedded artificial intelligence and for sexual purposes has generated some debates within bioethics, in which diverse competing views have been presented. Themes such as sexuality and its deviations, the objectification of women, the relational problems of contemporary life, loneliness, and even the reproductive future of the species constitute the arguments which have emerged in relation to this subject. Based on these themes, this article presents the current state of the use of female sex robots, the bioethical problems that arise, and how bioethics could serve as a medium for both thinking about and resolving some of these challenges., Competing Interests: Conflicts of InterestThe authors declare that there is no conflict of interest regarding the publication of this paper., (© National University of Singapore and Springer Nature Singapore Pte Ltd. 2018.)

Pollution of aquatic ecosystems is associated with the discharge of mostly industrial and urban effluents, which may cause loss of biodiversity and damage to public health. This study aims to evaluate the toxicity and mutagenicity of water samples collected in the Corrente River, a major waterway in the river basin district of Pedro II, Piauí (Brazil). This river is exposed to intense anthropogenic influence from urban, automotive mechanical and family farm waste, and it is used as the main source of water supply by the population. Water samples were collected during the rainy and dry seasons, at four sites in the Corrente River, and evaluated by physicochemical, microbiological and inorganic elements analyses. The samples were evaluated for mutagenicity using the Allium cepa test (toxicity, chromosomal aberration and micronucleus tests) and fish (Tilapia rendalli and Hoplias malabaricus). The physicochemical, microbiological and inorganic results show a large contribution to the pollution loads at collection points in the town of Pedro II, demonstrating the influence of urban pollution. The Al, Si, Ti, Cr, Ni and Cu contents were determined by PIXE. These same Corrente River water samples demonstrated mutagenic effect for A. cepa and fish, as well as toxicity in the A. cepa test. The observations of mutagenic effect may suggest that the complex mixture of agents is comprised of both clastogenic and aneugenic agents. This study also showed the need for constant monitoring in places with environmental degradation caused by urban sewage discharges., (Copyright © 2016 Elsevier Ltd. All rights reserved.)

A 27-year-old female patient was referred to our outpatient clinic with a 1-year history of shortness of breath when walking fast on level ground or when climbing stairs. Symptoms worsened after a second episode of spontaneous left pneumothorax, when a chest tube was placed in another hospital for complete lung expansion. During this hospitalization, an open lung biopsy was performed. There was no history of rhinorrhea, nasal congestion, cough, hemoptysis, wheezing, or expectoration., (Copyright © 2016 American College of Chest Physicians. Published by Elsevier Inc. All rights reserved.)

This paper proposes a novel flow-batch analyzer (FBA), which employs a compact, low-cost aquarium air pump as an alternative to a peristaltic pump. The feasibility of using this simple propulsion device is demonstrated in a case study involving the classification of citrus juice samples with respect to brand. For this purpose, UV-vis spectra and SIMCA (soft independent modelling of class analogies), PLS-DA (Partial Least Squares for Discriminant Analysis) and SPA-LDA (Linear Discriminant Analysis with variables selected by the Successive Projections Algorithm) are employed. Good classification results were obtained, thus indicating that the proposed FBA system is a viable alternative to the use of more costly peristaltic pumps. In addition, the smaller size and weight of the aquarium pump are useful features for the construction of portable FBAs to be deployed in field applications., (Copyright © 2012 Elsevier B.V. All rights reserved.)

This paper proposes a NIR spectrometric method for screening analysis of liquefied petroleum gas (LPG) samples. The proposed method is aimed at discriminating samples with low and high propane content, which can be useful for the adjustment of burn settings in industrial applications. A gas flow system was developed to introduce the LPG sample into a NIR flow cell at constant pressure. In addition, a gas chromatographer was employed to determine the propane content of the sample for reference purposes. The results of a principal component analysis, as well as a classification study using SIMCA (soft independent modeling of class analogies), revealed that the samples can be successfully discriminated with respect to propane content by using the NIR spectrum in the range 8100-8800 cm(-1). In addition, by using SPA-LDA (linear discriminant analysis with variables selected by the successive projections algorithm), it was found that perfect discrimination can also be achieved by using only two wavenumbers (8215 and 8324 cm(-1)). This finding may be of value for the design of a dedicated, low-cost instrument for routine analyses., (Copyright © 2012 Elsevier B.V. All rights reserved.)

Spatial and temporal variations in phytoplankton communities in continental waters have received attention from limnologists, since they are differently influenced by many physico-chemical and biological factors. This study was undertaken with the aim to identify the environmental variables that influence the temporal and spatial dynamics of the phytoplankton near a fish farm in the Jucazinho reservoir, in a semi-arid region of Northeastern Brazil. Samples were taken from three sampling sites, at two depths during the rainy (Aug 2008, Feb and Mar 2009) and dry (Oct, Nov and Dec 2008) seasons. Phytoplankton was identified, density determined, and biomass values obtained. Concomitantly, abiotic analyses were performed for the characterization of the system. The reservoir was homogeneous with regard to the spatial-temporal variation in hydrological variables: water well oxygenated at the surface and anoxic at the bottom; pH ranging from neutral to alkaline; temperatures always above 25 degreeC; high turbidity; and high electrical conductivity at all sampling sites and both depths. For both seasons, there was limited nitrogen and high concentrations of phosphorus. Cyanophyta species were predominant, generally representing 80% of the phytoplankton biomass throughout practically the entire study, at all sampling sites and both depths. Co-dominance of cyanobacteria belonging to H1, MP, S1 and Sn associations was recorded in most of the months studied, except August 2008, when there was a substitution of the S1 association (Planktothrix agardhii) by the P association (Aulacoseira granulata). Water temperature, precipitation and pH were the parameters with the greatest influence over the temporal variation in phytoplankton, whereas the vertical distribution of the phytoplankton biomass was directly related to the availability of light in the water column. There were no spatial or temporal differences in water quality, likely due to the fact that the sampling sites were near to one another and received the same nutrients stemming from the rations given to the fish as well as their excrement. The predominance of cyanobacteria through the study was certainly due to the influence of the feeding products offered to and excreted from the fish, which eutrophicated the system. In temporal terms, the change in the algal structure is explained by the change in the physical conditions of the water between the surface and bottom, as well as the climatologic conditions, especially the change in wind direction, with the consequent fetch of the water.

A flow injection photometric system that exploits Schlieren signals for analytical measurement is described. The system was designed to be used as a new strategy for determining the contents of sodium chloride, potassium chloride and glucose, each respectively in injectable drugs. The proposed methodology was based on the difference between the refractive indices of the sample zone and of the carrier stream. With this perspective, a lab-made photometer based on LED-phototransistor technology was employed as a detection system to investigate the different analytical profiles related to the Schlieren effect in low flow rate conditions. The parameters of the flow system, such as flow-rate, optical path length, and sampling loop, were adjusted in order to obtain suitable Schlieren profiles for the measurements. Data evaluation was performed with the application of partial least squares regression (PLS-1). The obtained results demonstrated the predictive ability of the constructed PLS models, and the predicted concentration values were in agreement with the reference values, with a 95% confidence level., (Copyright © 2011 Elsevier B.V. All rights reserved.)

Population data of 15 short tandem repeat loci of the AmpFlSTR® next generation multiplex (NGM)™ were obtained from a sample of 835 individuals. The loci are the ten short tandem repeats (STRs) in the SGM Plus® Kit plus the EDNAP- and ENSFI-recommended STRs D10S1248, D22S1045, D2S441, D1S1656, and D12S391. Allele frequency and other forensically relevant statistics data were generated for the NGM loci into five current country macroregions of Brazil (North, Northeast, Central West, Southeast, and South). All the analyzed loci meet Hardy-Weinberg equilibrium expectations and no linkage disequilibrium in all pairs of loci. The observed and expected heterozygosity, power of discrimination, polymorphic information content, and the other population-genetic indices were calculated. The overall power of discrimination was greater than 0.99999999999999999996 and the combined power of exclusion was greater than 0.9999998 in all Brazilian populations. Comparative analysis between populations from different Brazilian macroregions as well as between Brazil and Caucasian, African Americans, and Hispanic US populations are presented.

Hartree-Fock and density functional methods were used to analyze electronic and structural properties of known drugs to evaluate the influence of these data on acetylcholinesterase inhibition. The energies of the frontier orbitals and the distances between the more acidic hydrogen species were investigated to determine their contributions to the activity of a group of acetylcholinesterase inhibitors. Electrostatic potential maps indicated suitable sites for drugs-enzyme interactions. In this study, the structural, electronic and spatial properties of nine drugs with known inhibitory effects on acetylcholinesterase were examined. The data were obtained based on calculations at the B3LYP/6-31 + G(d,p) level. Multivariate principal components analysis was applied to 18 parameters to determine the pharmacophoric profile of acetylcholinesterase inhibitors. Desirable features for acetylcholinesterase inhibitor molecules include aromatic systems or groups that simulate the surface electrostatic potential of aromatic systems and the presence of a sufficient number of hydrogen acceptors and few hydrogen donors. PCA showed that electronic properties, including the HOMO-1 orbital energy, logP and aromatic system quantity, as well as structural data, such as volume, size and H-H distance, are the most significant properties.

To study if the treatment with adenosine (ADO), an agonist of adenosine receptors, attenuates intestinal dysfunction caused by ischemia (I) and reperfusion (R), we treated rabbits with ADO (15 mg x kg(-1), intravenously) or saline solution (SS) to I (60 minutes) before occlusion of superior mesenteric artery and/or R (120 min). After I or I/R, isolated jejunal segments (2 cm) were mounted in an organ bath to study nerve-mediated contractions stimulated by electrical pulses or KCl using a digital recording system. Thin jejunal slices were stained (hematoxylin and eosin) for analysis by optical microscopy. Compared to the sham group, the jejunal contractions were similar in I + ADO, but reduced in I + SS, I/R + SS, and I/R + ADO groups. We concluded that the jejunal enteric nerves were damaged in I + SS, I/R + SS, and I/R + ADO, but not in I + ADO group. These results suggested that ADO attenuated intestinal dysfunction due to I, but not to R., (Copyright (c) 2010 Elsevier Inc. All rights reserved.)

A microcontrolled, portable and inexpensive photometer is proposed. It uses a near infrared light emitting diode (NIR LED) as radiation source, a PbSe photoresistor as infrared detector and a programmable interrupt controller (PIC) microcontroller as control unit. The detector system presents a thermoresistor and a thermoelectric cooling to control the detector temperature and keep the noise at low levels. The microcontroller incorporated total autonomy on the proposed photometer. As its components are inexpensive and of easy acquisition, the proposed NIR LED-photometer is an economical alternative for chemical analyses in small routine, research and/or teaching laboratories. By being portable and microcontrolled, it also allows carrying out field chemical analyses. The instrument was successfully applied on the screening analysis to verify adulteration in gasoline samples.

The purpose of the study was to assess the incidence of alcohol and amphetamine use among long-distance truck drivers. There were studied 91 truck drivers at the gas station in Passos, Southeastern Brazil, in November 2005. Data was collected using a questionnaire comprising 19 multiple choice questions. Descriptive statistics, Chi-square test and Cramér's correlation coefficient were used for data analysis. The results indicated that 66% of the long-distance truck drivers used amphetamines during their travels, mainly at gas stations along the highways (54%). Alcohol was consumed by 91% of them and 43% of them consumed it at gas stations. It is concluded that there is a need of preventive and education campaigns targeting this occupation category at gas stations and transportation companies, focusing on the risks of these substances' use during working hours.

One in every 1,000 newborn suffers from congenital hearing impairment. More than 60% of the congenital cases are caused by genetic factors. In most cases, hearing loss is a multifactorial disorder caused by both genetic and environmental factors. Molecular genetics of deafness has experienced remarkable progress in the last decade. Genes responsible for hereditary hearing impairment are being mapped and cloned progressively. This review focuses on non-syndromic hearing loss, since the gene involved in this type of hearing loss have only recently begun to be identified.