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Objective The current study delves into the accessibility of genetic evaluations for individuals with orofacial clefts (OC), comparing data between genetics and treatment centers across Brazil. Methods This cross-sectional retrospective study analyzed primary data from 1463 OC individuals registered in the Brazilian Database of Craniofacial Anomalies (BDCA) between 2008 and 2018 without age or sex selection. Diagnostic exam results stemming from research projects until 2023 were considered. Results Of the 1463 individuals with typical OC, 987 were non-syndromic, 462 were syndromic (SOC), 10 presented atypical forms, and three were not specified OC cases. The average age for accessing laboratory diagnosis was 8.5 years among SOC individuals. Notably, more SOC cases were registered in genetics centers than treatment and rehabilitation centers (37.1 % vs. 29 %, p = 0.0015). Those originating from genetics centers accessed diagnosis at an average age of 7.3 years, while those from treatment and rehabilitation centers experienced delays with an average age of 10.7 years (p = 0.0581). Conclusions Irrespective of the center of origin, the data highlight delayed diagnosis and challenges in accessing genetic tests for the syndromic group. Given the widespread reliance on the public health system by most of the Brazilian population, disseminating this data can significantly contribute to shaping an informed perspective on healthcare access. These insights can improve public policies tailored to the unique needs of individuals with OC. [ABSTRACT FROM AUTHOR]

Copyright of Environmental & Social Management Journal / Revista de Gestão Social e Ambiental is the property of Environmental & Social Management Journal and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Environmental & Social Management Journal / Revista de Gestão Social e Ambiental is the property of Environmental & Social Management Journal and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Objective: This study aimed to analyze the associated implications and outcomes of diaphragmatic paralysis following pediatric cardiac surgery at a center specializing in congenital heart diseases. Methods: The eligibility criteria for this cross-sectional study included patients who underwent surgery between January 2020 and June 2021. We collected sociodemographic, anthropometric, cardiac diagnostic, surgical, diaphragmatic paralysis diagnostic, ventilatory, and temporal variables and those related to the outcome of diaphragmatic paralysis and hospital outcomes. We conducted descriptive and inferential (logistic regression model) statistical analysis. Results: Among a total of 246 patients, a prevalence of 2.4% of diaphragmatic paralysis was estimated, predominantly in those with cyanotic congenital heart disease. Patients with extubation failure were 3.59 times more likely to have diaphragmatic paralysis (p<0.05). The need for non-invasive ventilation increased the patient's chance of being diagnosed with diaphragmatic paralysis by 14 times (OR=14.29, p>0.05). Unilateral diaphragm injury and the necessity for surgical treatment by plication were predominant. All patients with diaphragmatic paralysis were in the intensive care unit discharged. Conclusion: Extubation failure and non-invasive support were associated with diaphragmatic paralysis. Outcomes included diaphragmatic plication and subsequent discharge from the intensive care unit. [ABSTRACT FROM AUTHOR]

Potassium iodide has demonstrated several therapeutic applications over time, being the choice for shielding the thyroid during radiation emergencies involving radioiodine release. Amidst the ongoing military conflict between Ukraine and Russia and the growing concern regarding the potential deployment of nuclear weapons, there has been a surge in the demand for potassium iodide across Europe. This work aimed to comprehensively review the current knowledge regarding the pharmacology, physiology, adverse effects, the protective role in reducing the risk of thyroid cancer and recommendations for potassium iodide use during radiation emergencies. Evidence on adverse effects is scarce, as potassium iodide is generally well‐tolerated. Guidelines for thyroid blocking with potassium iodide during radiation emergencies suggest that, among populations vulnerable to radioiodine exposure, the benefits of potassium iodide outweigh the risks of adverse effects. Controversial topics surrounding the utilization of potassium iodide in radiation emergencies include the prophylaxis in iodine‐deficient regions and following the detonation of dirty bombs, whether granule formulations versus tablets should be used and mental health concerns. Although the rise in demand seems to be a justified security measure, it is essential to recognize that potassium iodide protects the thyroid from radioiodine and does not impact the body's absorption of other radioactive materials or defend against external radiation exposure. [ABSTRACT FROM AUTHOR]

Copyright of O Social em Questão is the property of Faculdades Catolicas - Pontificia Universidade Catolica do Rio de Janeiro and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

This study reports three patients with Cat-eye Syndrome (CES), two of which present a previous clinical diagnosis of Craniofacial microsomia (CFM). Chromosomal microarray analysis (CMA) revealed a tetrasomy of 1,7 Mb at the 22q11.2q11.21 region, which is the typical region triplicated in the CES, in all patients. The most frequent craniofacial features found in individuals with CFM and CES are preauricular tags and/or pits and mandibular hypoplasia. We reinforce that the candidate genes for CFM features, particularly ear malformation, preauricular tags/pits, and facial asymmetry, can be in the proximal region of the 22q11.2 region. [ABSTRACT FROM AUTHOR]

Chagas disease (CD), caused by the protozoan Trypanosoma cruzi, is an important public health problem, occurring mainly in Latin America. The disease has a major social and economical effect, negatively impacting the life of the infected individuals, and bringing great costs to public health. An early and accurate diagnosis is essential for administration of early treatment. In addition, prognostic tests may aid disease management, decreasing hospitalization costs. However, the serological diagnostic scenario for CD still faces several challenges, making the development of new diagnostic kits a pressing matter. Facing this scenario, several researchers have expanded efforts in developing and testing new antigens, such as recombinant proteins and recombinant multiepitope proteins, with promising results. These recombinant antigens offer several advantages, such as improved sensitivity and specificity, in addition to facilitated scaling. Also, it has been possible to observe a rising number of studies using ELISA and point-of-care platforms, employing these antigens in the past few years. Among them, recombinant proteins were the most applied antigens, demonstrating great capacity to discriminate between positive and negative samples. Although fewer in number, recombinant multiepitope proteins also demonstrated an improved diagnostic performance. Indeed, a great number of studies employing these antigens showed sensitivity and specificity values above 90%, greatly impacting diagnostic accuracy. Nevertheless, despite the good results found, it is still possible to observe some bottlenecks in the development of new antigens, such as the scarcity of tests with sera from the acute phase and the variability of results in different geographic areas. In this sense, aiming to contribute to control and health programs, the continuous search for a more accurate serological diagnosis is essential, both for the acute and chronic phases of the disease. [ABSTRACT FROM AUTHOR]

Background: The 22q11.2 Deletion Syndrome (22q11.2 DS) presents unique healthcare challenges for affected individuals, families, and healthcare systems. Despite its rarity, 22q11.2 DS is the most common microdeletion syndrome in humans, emphasizing the need to understand and address the distinctive healthcare requirements of those affected. This paper examines the multifaceted issue of health service access and caregivers' quality of life in the context of 22q11.2 DS in Brazil, a condition with diverse signs and symptoms requiring multidisciplinary care. This study employs a comprehensive approach to evaluate health service accessibility and the quality of life of caregivers of individuals with 22q11.2 DS. It utilizes a structured Survey and the WHOQOL-bref questionnaire for data collection. Results: Individuals with 22q11.2 DS continue to receive incomplete clinical management after obtaining the diagnosis, even in the face of socioeconomic status that enabled an average age of diagnosis that precedes that found in sample groups that are more representative of the Brazilian population (mean of 3.2 years versus 10 years, respectively). In turn, caring for individuals with 22q11.2 DS who face difficulty accessing health services impacts the quality of life associated with the caregivers' environment of residence. Conclusions: Results obtained help bridge the research gap in understanding how caring for individuals with multisystem clinical conditions such as 22q11.2 DS and difficulties in accessing health are intertwined with aspects of quality of life in Brazil. This research paves the way for more inclusive healthcare policies and interventions to enhance the quality of life for families affected by this syndrome. [ABSTRACT FROM AUTHOR]

This work discusses the relationship between digital disconnection and the violation of rights in Quilombola territories. Quilombolas are an ethnic-racial group with Black origins associated with oppression and resistance over the centuries in Brazil. The research was conducted with 41 women aged 18 to 73, who are leaders in 35 remaining Quilombola communities in Minas Gerais, Brazil. The impacts of limited access to information and communications technology (ICT) were assessed using an intersectional perspective, considering social markers of difference such as gender, social class, ethnic-racial belonging, and territory. The results show that 11 territories lack internet service, significantly restricting access to information, health, education, and social participation. The research points to the need for considering digital inequity as another matrix of intersectional oppression, as being disconnected or having restrictions on access and use of ICT increases the vulnerability of these territories, especially for the Quilombola women. [ABSTRACT FROM AUTHOR]

Background/Aim: Acute myeloid leukemia (AML) is a myeloproliferative neoplasm marked by abnormal clonal expansion of hematopoietic progenitor cells, displaying karyotypic aberrations and genetic mutations as prognostic indicators. The World Health Organization (WHO) and the European LeukemiaNet guidelines categorize BCR::ABL1 p190+ AML as high risk. This study explored the identification of the increased incidence of BCR::ABL1 p190+ in our AML population. Patients and Methods: This study included 96 AML patients stratified according to WHO guidelines. Subsequently, patients were screened for genetic abnormalities, such as BCR::ABL1 p 190+, PML::RARA, RUNX1::RUNX1T1, and CBFB::MYH11 by quantitative reverse transcription polymerase chain reaction (RT-qPCR) analysis. Results: Among 96 AML patients, 36 displayed BCR::ABL1 p190+, overcoming the expected global incidence. Age variations (19 to 78 years) showed no significant laboratory differences between BCR::ABL1 p190+ and non-BCR::ABL p190+ cases. The overall survival analysis revealed no statistically significant differences among the patients (p=0.786). Conclusion: The analyzed population presented a higher frequency of BCR::ABL1 p190+ detection in adult AML patients when compared to what is described in the worldwide literature. Therefore, more studies are needed to establish the reason why this incidence is higher and what the best treatment approach should be in these cases. [ABSTRACT FROM AUTHOR]

Although the presence of nitro groups in chemicals can be recognized as structural alerts for mutagenicity and carcinogenicity, nitroaromatic compounds have attracted considerable interest as a class of agents that can serve as source of potential new anticancer agents. In the present study, the in vitro cytotoxicity, genotoxicity, and mutagenicity of three synthetic ortho-nitrobenzyl derivatives (named ON-1, ON-2 and ON-3) were evaluated by employing human breast and ovarian cancer cell lines. A series of biological assays was carried out with and without metabolic activation. Complementarily, computational predictions of the pharmacokinetic properties and druglikeness of the compounds were performed in the Swiss ADME platform. The MTT assay showed that the compounds selectively affected selectively the cell viability of cancer cells in comparison with a nontumoral cell line. Additionally, the metabolic activation enhanced cytotoxicity, and the compounds affected cell survival, as demonstrated by the clonogenic assay. The comet assay, the cytokinesis-block micronucleus assay, and the immunofluorescence of the γ-H2AX foci formation assay have that the compounds caused chromosomal damage to the cancer cells, with and without metabolic activation. The results obtained in the present study showed that the compounds assessed were genotoxic and mutagenic, inducing double-strand breaks in the DNA structure. The high selectivity indices observed for the compounds ON-2 and ON-3, especially after metabolic activation with the S9 fraction, must be highlighted. These experimental biological results, as well as the theoretical properties predicted for the compounds have shown that they are promising anticancer candidates to be exploited in additional studies. [ABSTRACT FROM AUTHOR]

Accurate knowledge of solar radiation data or its estimation is crucial to maximize the benefits derived from the Sun. In this context, many sectors are re-evaluating their investments and plans to increase profit margins in line with sustainable development based on knowledge and estimation of solar radiation. This scenario has drawn the attention of researchers to the estimation and measurement of solar radiation with a low level of error. Various types of models, such as empirical models, time series, artificial intelligence algorithms and hybrid models, for estimating and measuring solar radiation have been continuously developed in the literature. In general, these models require atmospheric, geographical, climatic and historical solar radiation data from a specific region for accurate estimation. Each analysis model has its advantages and disadvantages when it comes to estimating solar radiation and, depending on the model, the results for one region may be better or worse than for another. Furthermore, it has been observed that an input parameter that significantly improves the model's performance in one region can make it difficult to succeed in another. The research gaps, challenges and future directions in terms of solar radiation estimation have substantial impacts, but regardless of the model, in situ measurements and commercially available equipment consistently influence solar radiation calculations and, subsequently, simulations or estimates. This article aims to exemplify, through a case study in a multi-family residential building located in Viana do Castelo, a city in the north of Portugal, the difficulties of capturing the spectrum of radiations that make up the total radiation that reaches the measuring equipment or site. Three pieces of equipment are used—a silicon pyranometer, a thermopile pyranometer and a solar meter—on the same day, in the same place, under the same meteorological conditions and with the same measurement method. It is found that the thermopile pyranometer has superior behavior, as it does not oscillate as much with external factors such as the ambient temperature, which influence the other two pieces of equipment. However, due to the different assumptions of the measurement models, the various components of the measurement site make it difficult to obtain the most accurate and reliable results in most studies. Despite the advantages of each model, measurement models have gained prominence in terms of the ease of use and low operating costs rather than the rigor of their results. [ABSTRACT FROM AUTHOR]

Arbuscular mycorrhizal (AM) fungi form mutualistic relationships with the majority of land plants and are an important part of the soil microbial community in natural and agricultural ecosystems. These fungi promote water and nutrient acquisition by their host plant and regulate the allocation of photosynthetic carbon to soil. Both crop variety and environment affect naturally occurring mycorrhizal abundance in roots, but the relative importance of those factors for mycorrhization is largely unknown. In a field study covering a large pedoclimatic gradient across four European sites, we (i) compared the abundance of AM fungi in the roots of 10 modern winter wheat (Triticum aestivum L.) varieties, (ii) evaluated the relative importance of variety and site for the variability in root colonization by AM fungi and (iii) tested the relationship between mycorrhizal abundance and grain yield. Root colonization by arbuscules and hyphae ranged from 10% to 59% and 20% to 91%, respectively, across all samples and varied by 8% and 18%, respectively, among varieties when averaged across sites. Variance decomposition analysis revealed a 10 times higher importance of site than variety for AM fungal root colonization. Specifically, we found the highest mycorrhizal abundance on the site with the most arid conditions and the lowest on the sites with low soil pH and high nutrient availability. Despite the low variability in mycorrhizal abundance among varieties, there were significant differences in both arbuscular and hyphal root colonization. However, this did not translate into an increase in yield as no significant relationships between mycorrhizal abundance at flowering and grain yield were detected. The consistent differences between wheat varieties in root colonization by AM fungi across European field sites underline that genetic drivers of mycorrhization are to some extent independent of the site. This highlights the relevance of breeding practices to shape a wheat variety's capacity for mycorrhizal symbiosis across a range of environmental conditions. [ABSTRACT FROM AUTHOR]

Copyright of Revista Foco (Interdisciplinary Studies Journal) is the property of Revista Foco and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Revista Foco (Interdisciplinary Studies Journal) is the property of Revista Foco and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Adrenal hypoplasia congenita, attributed to NR0B1 pathogenic variants, accounts for more than 50% of the incidence of primary adrenal insufficiency in children. Although more than 250 different deleterious variations have been described, no genotype–phenotype correlation has been defined to date. We report a case of an adopted boy who reported the onset of an adrenal crisis at 2 weeks of age, requiring replacement therapy with mineralocorticoids and glucocorticoids for 4 months. For 3 years, he did well without treatment. At almost 4 years of age, the disorder was restarted. A long follow‐up showed the evolution of hypogonadotropic hypogonadism. Molecular studies on NR0B1 revealed a novel and deleterious deletion–insertion–inversion–deletion complex rearrangement sorted in the 5′‐3′ direction, which is described as follows: (1) deletion of the intergenic region (between TASL and NR0B1 genes) and 5′ region, (2) insertion of a sequence containing 37 bp at the junction of the intergenic region of the TASL gene and a part of exon 1 of the NR0B1 gene, (3) inversion of a part of exon 1, (4) deletion of the final portion of exon 1 and exon 2 and beginning of the 3′UTR region, (5) maintenance of part of the intergenic sequence (between genes MAGEB1 and NR0B1, telomeric sense), (6) large posterior deletion, in the same sense. The path to molecular diagnosis was challenging and involved several molecular biology techniques. Evaluating the breakpoints in our patient, we assumed that it was a nonrecurrent rearrangement that had not yet been described. It may involve a repair mechanism known as nonhomologous end‐joining (NHEJ), which joins two ends of DNA in an imprecise manner, generating an "information scar," represented herein by the 37 bp insertion. In addition, the local Xp21 chromosome architecture with sequences capable of modifying the DNA structure could impact the formation of complex rearrangements. [ABSTRACT FROM AUTHOR]

Creative Tourism is a recent tourist segment and an extension of Cultural Tourism. As this is a relatively recent concept that has gained prominence in recent years, the present research aims to understand the evolution of publications relating to Creative Tourism in the SCOPUS database. To that end, a bibliometric analysis was performed using qualitative and quantitative methods. In the SCOPUS database, 302 publications relating to this subject were analysed, from 2002 to 2022 (the longest period analysed until present), from which an in-depth analysis was carried out. The results of the investigation show that most publications are articles, with two books that stand out with more publications on the subject. Most publications relating to Creative Tourism and Development, are qualitative in nature, and use mainly secondary techniques and content analysis. After its first publication appearing in 2002, this segment emerged as a consistent topic in 2013, with a higher number of publications in the last ten years. However, there are publications that mention the concept of Creative Tourism, which, in fact, have nothing to do with this segment. [ABSTRACT FROM AUTHOR]

Recombinant multiepitope proteins (RMPs) are a promising alternative for application in diagnostic tests and, given their wide application in the most diverse diseases, this review article aims to survey the use of these antigens for diagnosis, as well as discuss the main points surrounding these antigens. RMPs usually consisting of linear, immunodominant, and phylogenetically conserved epitopes, has been applied in the experimental diagnosis of various human and animal diseases, such as leishmaniasis, brucellosis, cysticercosis, Chagas disease, hepatitis, leptospirosis, leprosy, filariasis, schistosomiasis, dengue, and COVID-19. The synthetic genes for these epitopes are joined to code a single RMP, either with spacers or fused, with different biochemical properties. The epitopes' high density within the RMPs contributes to a high degree of sensitivity and specificity. The RMPs can also sidestep the need for multiple peptide synthesis or multiple recombinant proteins, reducing costs and enhancing the standardization conditions for immunoassays. Methods such as bioinformatics and circular dichroism have been widely applied in the development of new RMPs, helping to guide their construction and better understand their structure. Several RMPs have been expressed, mainly using the Escherichia coli expression system, highlighting the importance of these cells in the biotechnological field. In fact, technological advances in this area, offering a wide range of different strains to be used, make these cells the most widely used expression platform. RMPs have been experimentally used to diagnose a broad range of illnesses in the laboratory, suggesting they could also be useful for accurate diagnoses commercially. On this point, the RMP method offers a tempting substitute for the production of promising antigens used to assemble commercial diagnostic kits. [ABSTRACT FROM AUTHOR]

Extracts from Mangifera indica leaves and its main component, mangiferin, have proven antidiabetic activity. In this study, mangiferin and its natural derivatives Homomangiferin (HMF), Isomangiferin (IMF), Neomangiferin (NMF), Glucomangiferin (GMF), Mangiferin 6’-gallate (MFG), and Norathyriol (NRT) were compared regarding their action on Diabetes mellitus (DM), employing docking and molecular dynamics (MD) simulations to analyze interactions with the aldose reductase enzyme, the precursor to the conversion of glucose into sorbitol. Notably, HMF showed significant affinity to residues in the active site of the enzyme, including Trp 79, His 110, Trp 111, Phe 122, and Phe 300, with an energy of − 7.2 kcal/mol, observed in the molecular docking simulations. MD reinforced the formation of stable complexes for HMF and MFG with the aldose reductase, with interaction potential energies (IPE) in the order of − 300.812 ± 52 kJ/mol and − 304.812 ± 52 kJ/mol, respectively. The drug-likeness assessment, by multiparameter optimization (MPO), highlighted that HMF and IMF have similarities with polyphenols and glycosidic flavonoids recently patented as antidiabetics, revealing that high polarity (TPSA > 180 Å2) is a favorable property for subcutaneous administration, especially because of the gradual passive cell permeability values in biological tissues, with Papp values estimated at < 10 × 10−6 cm/s. These compounds are metabolically stable against metabolic enzymes, resulting in a low toxic incidence by metabolic activation, corroborating with a lethal dose (LD50) greater than 2000 mg/kg. In this way, HMF showed a systematic alignment between predicted pharmacokinetics and pharmacodynamics, characterizing it as the most favorable substance for inhibiting aldose reductase. [ABSTRACT FROM AUTHOR]

Purpose: Hydrocephalus is a brain disease prevalent in the pediatric population that presents complex pathophysiology and multiple etiologies. The best treatment is still ventricular shunting. Mechanical obstruction is the most frequent complication, but the resulting pathological effects are still unknown. Objective: Evaluation and comparison of clinical, histopathological, and immunohistochemical aspects in the acute phase of experimental hydrocephalus induced by kaolin, after treatment with adapted shunt, and after shunt obstruction and posterior disobstruction. Methods: Wistar rats aged 7 days were used and divided into 4 groups: control group without kaolin injection (n = 6), untreated hydrocephalic group (n = 5), hydrocephalic group treated with ventriculosubcutaneous shunt (DVSC) (n = 7), and hydrocephalic group treated with shunt, posteriorly obstructed and disobstructed (n = 5). The animals were submitted to memory and spatial learning evaluation through the Morris water maze test. The rats were sacrificed at 28 days of age and histological analysis of the brains was performed with luxol fast blue, in addition to immunohistochemical analysis in order to evaluate reactive astrocytosis, inflammation, neuronal labeling, and apoptotic activity. Results: The group with shunt obstruction had worse performance in memory tests. Reactive astrocytosis was more evident in this group, as was the inflammatory response. Conclusions: Obstruction of the shunt results in impaired performance of behavioral tests and causes irreversible histopathological changes when compared to findings in the group with treated hydrocephalus, even after unblocking the system. The developed model is feasible and efficient in simulating the clinical context of shunt dysfunction. [ABSTRACT FROM AUTHOR]

Retinitis pigmentosa is a group of genetically determined retinal dystrophies characterized by primary photoreceptor apoptosis and can occur in isolated or syndromic conditions. This study reviewed the clinical data of 15 patients with syndromic retinitis pigmentosa from a Rare Disease Reference Center in Brazil and the results of their next-generation sequencing tests. Five males and ten females participated, with the mean ages for ocular disease onset, fundoscopic diagnosis, and molecular evaluation being 9, 19, and 29 years, respectively. Bardet–Biedl syndrome (n = 5) and Usher syndrome (n = 3) were the most frequent diagnoses, followed by other rare conditions. Among the patients, fourteen completed molecular studies, with three negative results and eleven revealing findings in known genes, including novel variants in MKKS (c.432_435del, p.Phe144Leufs*14), USH2A (c.(7301+1_7302-1)_(9369+1_9370-1)del), and CEP250 (c.5383dup, p.Glu1795Glyfs*13, and c.5050del, p.Asp1684Thrfs*9). Except for Kearn-Sayre, all presented an autosomal recessive inheritance pattern with 64% homozygosity results. The long gap between symptom onset and diagnosis highlights the diagnostic challenges faced by the patients. This study reaffirms the clinical heterogeneity of syndromic retinitis pigmentosa and underscores the pivotal role of molecular analysis in advancing our understanding of these diseases. [ABSTRACT FROM AUTHOR]

22q11.2 deletion syndrome (22q11.2DS) shows significant clinical heterogeneity. This study aimed to explore the association between clinical heterogeneity in 22q11.2DS and the parental origin of the deletion. The parental origin of the deletion was determined for 61 individuals with 22q11.2DS by genotyping DNA microsatellite markers and single-nucleotide polymorphisms (SNPs). Among the 61 individuals, 29 (47.5%) had a maternal origin of the deletion, and 32 (52.5%) a paternal origin. Comparison of the frequency of the main clinical features between individuals with deletions of maternal or paternal origin showed no statistically significant difference. However, Truncus arteriosus, pulmonary atresia, seizures, and scoliosis were only found in patients with deletions of maternal origin. Also, a slight difference in the frequency of other clinical features between groups of maternal or paternal origin was noted, including congenital heart disease, endocrinological alterations, and genitourinary abnormalities, all of them more common in patients with deletions of maternal origin. Although parental origin of the deletion does not seem to contribute to the phenotypic variability of most clinical signs observed in 22q11.2DS, these findings suggest that patients with deletions of maternal origin could have a more severe phenotype. Further studies with larger samples focusing on these specific features could corroborate these findings. [ABSTRACT FROM AUTHOR]

Copyright of Diversitas Journal is the property of Diversitas Journal and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Revista Foco (Interdisciplinary Studies Journal) is the property of Revista Foco and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Revista Foco (Interdisciplinary Studies Journal) is the property of Revista Foco and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of GeSec: Revista de Gestao e Secretariado is the property of Sindicato das Secretarias e Secretarios do Estado de Sao Paulo (SINSESP) and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Context: The participation of judo athletes with disabilities in competitions has increased over the years as well as the burden of sports-related injuries and illnesses in this population. However, there is limited knowledge about sports-related injuries in judo athletes with different disabilities. Objective: To investigate the prevalence of injuries in judo athletes with disabilities, considering the different impairment groups, magnitude of injury (ie, mechanism, nature, and severity of injury), and specific body parts. Design: Cross-sectional study (level of evidence, 3). Setting: Brazilian Judo athletes with disabilities. Patients: Fifty-one judo athletes with disabilities (15 men and 36 women) participated in this study. Main Outcome Measures: Data were obtained from an adapted injury report form. The prevalence of injuries was assessed, considering type of impairment, body parts, mechanisms, and severity as well as differences between male and female athletes, with the significance level set at P < .05. Results: The results demonstrated a high prevalence of injuries in female athletes with visual impairment (n = 11, 73.3%) and male athletes with amputations (n = 14, 38.8%). A high prevalence was found in the national group, especially for male athletes (n = 29, 80.5%). Among athletes who had injuries, 69.4% (n = 12) of male and 80.0% (n = 25) of female athletes' injuries occurred due to direct contact with other athletes, and 72.2% (n = 26) of male and 86.6% (n = 13) of female athletes' injuries were in the training environment. The magnitude of injuries ranged from moderate to severe for male and female athletes. The knee (n = 25, 49.0%) and shoulder (n = 12, 23.5%) were the body parts most affected by injuries in both male and female athletes. Conclusion: A large percentage of judo athletes with disabilities reported experiencing an injury during the previous 2 years; percentages were greater in athletes with visual and physical impairment. Moreover, most injuries occurred in the knee or shoulder, during training, and in direct contact with other athletes and were of severe magnitude. [ABSTRACT FROM AUTHOR]

22q11.2 deletion syndrome (22q11.2DS) is a microdeletion syndrome with a broad and heterogeneous phenotype, even though most of the deletions present similar sizes, involving ∼3 Mb of DNA. In a relatively large population of a Brazilian 22q11.2DS cohort (60 patients), we investigated genetic variants that could act as genetic modifiers and contribute to the phenotypic heterogeneity, using a targeted NGS (Next Generation Sequencing) with a specific Ion AmpliSeq panel to sequence nine candidate genes (CRKL, MAPK1, HIRA, TANGO2, PI4KA, HDAC1, ZDHHC8, ZFPM2, and JAM3), mapped in and outside the 22q11.2 hemizygous deleted region. In silico prediction was performed, and the whole-genome sequencing annotation analysis package (WGSA) was used to predict the possible pathogenic effect of single nucleotide variants (SNVs). For the in silico prediction of the indels, we used the genomic variants filtered by a deep learning model in NGS (GARFIELD-NGS). We identified six variants, 4 SNVs and 2 indels, in MAPK1, JAM3, and ZFPM2 genes with possibly synergistic deleterious effects in the context of the 22q11.2 deletion. Our results provide the opportunity for the discovery of the co-occurrence of genetic variants with 22q11.2 deletions, which may influence the patients´ phenotype. [ABSTRACT FROM AUTHOR]

Bladder and bowel poststroke dysfunctions negatively impact patients' health. Stroke-related characteristics associated to these dysfunctions are poorly known. This study aims to estimate the prevalence of new-onset poststroke bladder and bowel dysfunctions, characterize their associated factors, and describe the dysfunctions' clinical approach. Cross-sectional study including 157 patients admitted to a single hospital's stroke unit with a first-ever stroke, during 3 months. An 18-item questionnaire was applied to assess dysfunctions pre and poststroke. The McNemar test was used to compare pre and poststroke prevalence. A logistic regression was used to estimate associations (OR, 95% CI) between individual characteristics and new-onset dysfunctions. We had 113 (72%) respondents. There was a significant increase in the prevalence of bladder and bowel dysfunctions poststroke (p < 0.001). Higher stroke severity was significantly associated with both new-onset poststroke bladder and bowel dysfunctions (OR = 15.00, 95% CI [4.92,45.76] and OR = 5.87,95%CI [2.14,16.12], respectively). Total anterior circulation strokes, cardioembolic strokes, and lower functionality at discharge were also significantly associated with both dysfunctions. Thirteen patients (11.5%) reported that health professionals addressed these dysfunctions. Poststroke bladder and bowel dysfunctions are highly prevalent. Being aware of their epidemiology helps draw attention to patients at higher risk of developing these dysfunctions, enhancing the rehabilitation process. Poststroke bladder and bowel dysfunctions are highly prevalent and under-recognised consequences of stroke. Being aware of their epidemiology and associated factors may help identify patients at higher risk of developing these dysfunctions. It is necessary to raise clinical awareness to ensure a more efficient diagnostic and therapeutic approach, enhancing patients' rehabilitation process, quality of life and lowering collateral societal burden. [ABSTRACT FROM AUTHOR]

Copyright of Journal of Applied Ecology is the property of Wiley-Blackwell and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Objective: The present study aims to evaluate the two main bottom-up emission estimation methodologies adopted worldwide for preparing vessel emissions inventories, in order to verify their limitations, as well as best practices. Theoretical framework: This study was conducted based on a bibliographical survey of methodologies adopted to estimate emissions, with the premise being the impact on the environment as a result of maritime transport. Methodology: The two most adopted methodologies, AP-42 from the United States Environmental Protection Agency (USEPA, 2009) and the European Environment Agency (EEA, 2019), were selected to estimate pollutant and Greenhouse Gas (GHG) emissions from vessels during hoteling in the Itagui Port Complex (IPC), from 2017 to 2021. Additionally, the study evaluates the application of methodologies in constructing an emissions inventory. Results and conclusion: The results indicate that container ships were identified as the largest sources of pollution by the EEA methodology (2019), unlike the USEPA method (2009), which identifies bulk carriers. Adopting the EEA (2019) methodology, total emissions were higher than USEPA (2009), up to 45 times higher for NOx and 174 times for PM10, while for SO2 it differs by only 26%. Implications of the research: The study is of fundamental relevance, as choosing the most appropriate methodology for estimating emissions is a crucial step for air quality management and emission mitigation measures. Originality/value: This research has social, scientific and environmental value carried out with real data, implying originality in the discussions presented. Objetivo: O presente estudo visa avaliar as duas principais metodologias bottom-up de estimativa de emissão adotadas mundialmente para elaboração de inventário de emissões por embarcações, com intuito de verificar as suas limitações, assim como as melhores práticas. Referencial teórico: Esse estudo foi conduzido com base no levantamento bibliográfico de metodologias para estimativa de emissões, tendo como premissa o impacto ambiental em decorrência do transporte marítimo. Método: Foram selecionadas duas metodologias, a Agencia de Proteção Ambiental dos Estados Unidos, USEPA (2009) e a Agencia Ambiental Europeia, EEA (2019), para estimar as emissões de poluentes e gases de efeito estufa (GEE) de embarcações em hotelaria no Complexo Portuário de Itaguaí, de 2017 a 2021 e avaliar a aplicação das metodologias na construção de um inventário de emissões. Resultados e conclusão: Os resultados apontam que os porta-contêineres foram identificados como os maiores poluidores pela metodologia EEA (2019), ao contrário da metodologia USEPA (2009), que aponta os navios graneleiros. Adotando a metodologia EEA (2019), as emissões totais foram mais elevadas do que a USEPA (2009), sendo até 45 vezes maiores para NOx e 174 vezes para MP10, enquanto para SO2 difere apenas 26%. Implicações da pesquisa: O estudo possui fundamental relevância, considerando que a escolha da metodologia mais adequada de estimativa de emissões é uma etapa crucial para a gestão da qualidade do ar e medidas de mitigação. Originalidade/valor: Essa pesquisa possui valor social, cientifico e ambiental, realizada com dados reais, implicando originalidade nas discussões apresentadas. [ABSTRACT FROM AUTHOR]

This paper focuses on challenge, quite typical of developing or industrializing regions, of converting a former rural settlement into a town. We analyse the urban process of Pirescoxe, a former hamlet in the riverside of Loures (Lisbon Metropolitan Region), observing the key episodes of historical formation of its current built structure, but highlighting a particularity, which was the recent conversion of elements of rural memory, built and unbuilt, into elements of cohesivity in an otherwise discrete suburban space. This analysis discloses aspects of the process of transformation of Pirescoxe over time, through its regional context, and accounting for the evolution of its typical building forms. It stems from observation of photographic and cartographic elements, historical and contemporary, as well as of the urbanization plans that transformed this space. The conclusion notes how the most decisive intervention in Pirescoxe was the one that more strongly emphasized the ruins of the rural past as elements of memory and identity. [ABSTRACT FROM AUTHOR]

The condition known as 22q11.2 deletion syndrome (MIM #188400) is a rare disease with a highly variable clinical presentation including more than 180 features; specific guidelines for screening individuals have been used to support clinical suspicion before confirmatory tests by Brazil's Craniofacial Project. Of the 2568 patients listed in the Brazilian Database on Craniofacial Anomalies, 43 individuals negative for the 22q11.2 deletion syndrome were further investigated through whole-exome sequencing. Three patients (6.7%) presented with heterozygous pathogenic variants in the KMT2A gene, including a novel variant (c.6158+1del) and two that had been previously reported (c.173dup and c.3241C>T); reverse phenotyping concluded that all three patients presented features of Wiedemann–Steiner syndrome, such as neurodevelopmental disorders and dysmorphic facial features (n = 3), hyperactivity and anxiety (n = 2), thick eyebrows and lower-limb hypertrichosis (n = 2), congenital heart disease (n = 1), short stature (n = 1), and velopharyngeal insufficiency (n = 2). Overlapping features between 22q11.2 deletion syndrome and Wiedemann–Steiner syndrome comprised neuropsychiatric disorders and dysmorphic characteristics involving the eyes and nose region; velopharyngeal insufficiency was seen in two patients and is an unreported finding in WDSTS. Therefore, we suggest that both conditions should be included in each other's differential diagnoses. [ABSTRACT FROM AUTHOR]

Copyright of Revista Espaço do Currículo is the property of Revista Espaco do Curriculo and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Forest road densities which are too high increase production costs, planting area loss, and environmental impacts. To solve this problem and plan an adequate forest road density, it is necessary to analyze and consider the topography, road network-related costs, and the type and number of machines to meet the required wood production. The aim of this study was to determine the current road density (RD), the optimal economic road density (ORD) and operational road density (OD) in flat and sloping site conditions for the full tree harvesting system in Southern Brazil. The RD was determined by the ratio of total road lengthand the total productive area. ORD was determined based on the transport geometry model, considering the minimization of the sum of unit costs of road construction and maintenance, loss of productive area, mitigation of road impacts, and wood extraction. The OD was determined considering the minimum number of extraction machines necessary to meet the annual demand for wood. All forest road densities were lower in flat site conditions than in sloping areas. In both conditions (flat and sloping), RDs (126 and 180 m ha−1, respectively) were higher than ORDs (53 and 65 m ha−1, respectively), which were lower than ODs (92 and 123 m ha−1, respectively). Therefore, OD can be an alternative parameter for managers to use in forest road network planning, mainly in conditions where ORD is not feasible to adopt. [ABSTRACT FROM AUTHOR]

The aim of the study was to track the spread of antimicrobial resistance among the different sectors of One Health through the detection of Multidrug-Efflux-System in multidrug-resistant Staphylococcus aureus isolates. Multidrug-resistant (MDR) and methicillin-resistant (MRSA) S. aureus isolates were selected: 25 of human, one of animal and eight of food origin. The efflux system genes norA, norB, norC, LmrS, tet38 and msrA were screened by PCR. The activity of the efflux systems was determined by the minimum inhibitory concentration (MIC) of tetracycline and ciprofloxacin in the presence and absence of CCCP and in the quantification of ethidium bromide efflux. Furthermore, biofilm formation was determined in the presence and absence of the CCCP. The molecular epidemiology of the isolates was traced with the aid of PFGE. The gene norC was the most prevalent, detected in all isolates and msrA was the least prevalent, detected in only two isolates from humans. There was no difference in the MICs of tetracycline and ciprofloxacin in the presence of CCCP, but 55.9% of isolates showed ethidium bromide efflux. The presence of CCCP decreased the biofilm formation. Regarding the molecular epidemiology, in three clusters was a mixture of the isolates from different origins. Therefore, S. aureus MDR with active multidrug efflux systems are circulating between One Health domains and it is necessary to consider strategies to decrease this circulation in order to prevent the dissemination of resistance mediated by MES. [ABSTRACT FROM AUTHOR]

This research aims to analyse business operators' perception of the impact of the Portuguese Way of St. James and to assess the landscape situation along a total section of 115 kilometres. Perceptions were collected in a survey of 112 small operators between 2020 and 2021. The diversity and singular components of the landscape make it a pleasant route to experience, where pilgrims have the possibility to improve wellbeing, and enjoy the landscape. Operators have profited from the significant increase in the number of pilgrims walking along the Way and claim that they aim to continue their operations. [ABSTRACT FROM AUTHOR]

Copyright of Revista Foco (Interdisciplinary Studies Journal) is the property of Revista Foco and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Revista Foco (Interdisciplinary Studies Journal) is the property of Revista Foco and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

The wine landscape is very sensitive to external influences and socioeconomic and environmental changes caused by climate change, requiring special management aimed at preserving both natural and cultural aspects of the landscape. This paper reviews the current situation in the academic work, examining 95 publications on the interaction between wine landscape and climate change, published in Scopus and in Web of Science. QUAL-QUANT methods were used for measuring the coverage of wine-landscape in spatial-temporal dimensions. The results were reviewed under the Theory - Context - Characteristics - Methodology (TCCM) framework. The review identified important gaps in existing research including the need for more cultural elements in landscape analysis and the need for more quantitative research across more broadly defined landscapes/regions to better assess likely economic impacts of climate change and to support the development of response strategies. [ABSTRACT FROM AUTHOR]

Cancer-related anorexia/cachexia syndrome (CACS) is characterized by anorexia and loss of body weight. Evidence is insufficient to strongly endorse any pharmacologic agent for the treatment of CACS. In this systematic review, we assessed the efficacy of oral anamorelin treatment for patients with CACS. On July 6, 2022, we systematically searched the following databases for randomized controlled trials (RCTs) of adults with CACS comparing oral anamorelin versus placebo: CENTRAL, PubMed, EMBASE, and ICHUSHI. The primary outcomes were total body weight (TBW), patient-reported quality of life (QOL), and adverse events (AEs). Secondary outcomes included lean body mass (LBM), overall survival (OS), non-dominant hand grip strength (HGS), and appetite. We included seven RCTs with a total of 1944 CACS patients. Anamorelin significantly increased TBW (mean difference (MD) 1.73, 95% confidence interval (CI) 1.34–2.13, p < 0.00001), LBM (MD 1.06, 95% CI 0.30–1.81, p = 0.006), and QOL (standardized mean difference (SMD) 0.16, 95% CI 0.04–0.27, p = 0.006) compared with placebo without a significant difference in all AEs, severe AEs, OS, HGS or appetite. Anamorelin may be an effective treatment for CACS patients; however, further studies are needed to confirm the efficacy and safety of this drug. [ABSTRACT FROM AUTHOR]

Copyright of Arquivos de Ciências da Saúde da UNIPAR is the property of Associacao Paranaense de Ensino e Cultura and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Revista Foco (Interdisciplinary Studies Journal) is the property of Revista Foco and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)