bluuebunny/crossref_metadata_2025 huggingface dataset:
Comparative taxonomic investigation and its systematics application in Astragalus L. sect. Aegacantha Bunge (Fabaceae-Galegeae) from Pakistan; A phylogenetic approach
Authors: Khan Amjad , Ahmad Mushtaq , Sultan Amir , Shah Syed Nasar , Majeed Khawar , Zafar Muhammad , Avila-Quezada Graciela Dolores , Abd_Allah Elsayed Fathi
Published: September 2023

The species of Astragalus L. sect. Aegacantha Bunge, occurring in a specific geographical range comprises eighteen species present in Pakistan. The present study was circumscribed seventeen delimiting species within the section with morphological, anatomical and seed macro- and micromorphological characterizations. In morphological study, shape and size of stipule, calyx, vexillum, wing, keel, stamen, pistil and pod were assessed and illustrated. In spine anatomy most reliable characters i.e. (outline shape, cortical cell and collenchymatous layers, numbers of vascular bundles, types of sclerenchymatous and pith parenchymatous cells, diameter of dorsal-median and ventral lateral vascular bundles, diameter of pith) were studied. In addition, in seed macro- and micromorphology were assessed using stereomicroscopy and scanning electron microscopy in order to describe and evaluate the diagnostic features in the species. The seed shape, size, colour, surface ornamentation and epidermal cells features were most significant characters in the systematic implication of studied species. Therefore, UPGMA and cluster biplot (K-means cluster analysis) analyses were performed for the phylogenetic relationship among studied species within section. Further, based on studied characters taxonomic keys were constructed for easy and adequate identification of species. The results of this study contribute novelties traits that will be helpful in phylogenetic and evolutionary study of section Aegacantha.
Spatial and temporal distribution characteristics and risk assessment of heavy metals in groundwater of Pingshuo Mining area
Authors: Sun Long , Liu Tingxi , Duan Limin , Tong xin , Zhang rui , Cui He , Wang Zhiting , Zheng Guofeng
Published: September 2023

Groundwater pollution in the Pingshuo mining area is strongly associated with mining activity, with heavy metals (HMs) represent predominant pollutants. To achieve accurate information about the pollution status and health risks of groundwater, 189 groups of samples were collected, tested and analyzed for HMs. The results showed that Fe, Mn, and Zn had the highest average concentrations across various types of groundwater. The concentration of HMs in groundwater was higher near the open pit, waste slag pile, riverfront area, and high anthropic zone. Compared with the standard threshold, except for Ordovician groundwater, excessive HMs were found in other groundwater. Fe, in particular, exceeded the threshold in 20% 75% of the groundwater samples. Three sources of HMs were identified and quantified by Pearson’s correlation analysis and the PMF model, including coal mining activities (68.22%), human life and agricultural activities (16.91%), and natural sources (14.87%). In terms of health risks, the health risk index for HMs in groundwater ranged from 0.18 to 0.42 for adults, indicating an acceptable level. Additionally, high carcinogenic risks were identified in Quaternary groundwater (95.45%), coal series groundwater (91.67%), and Ordovician groundwater (26.67%). Both carcinogenic and noncarcinogenic risks were greater for children than adults, highlighting their increased vulnerability to HMs in groundwater. This study provides a scientific foundation for managing groundwater quality and ensuring drinking water safety in mining areas.
Comparison of airborne antibiotic resistance genes in a chicken farm during winter and summer: A case study
Authors: Song Lu , Ma Jinbiao , Jiang Guanyu , Wang Can , Zhang Yuan , Chen Hong
Published: September 2023

Background Information regarding the abundance and dissemination of airborne antibiotic resistance genes (ARGs) in chicken farms and their correlations with airborne bacteria is limited.
Methods In this study, we investigated the bacterial communities and quantified the ARGs and mobile genetic elements (MGEs) in fecal and air samples in summer and winter.
Results The concentrations of nearly all the airborne ARG and MGE subtypes in winter is three or four orders of magnitude higher than those in summer. Findings reveal that the indoor air of a chicken farm is a reservoir of ARGs. The antibiotic target protection was the dominant resistance mechanism of ARGs in all the samples from this chicken farm. On the basis of the fecal samples, bacteria might be easily distributed in air in the intensive chicken farm during winter. Horizontal gene transfer could be a major transmission route in the atmosphere of chicken farms during winter. These results may improve the understanding of airborne ARGs transmission and its distribution characteristics and provide a reference for assessing the risks arising from chicken farms. More effort is needed to prevent and control the potential health risks induced by airborne ARGs.
SOX7: Novel Autistic Gene Identified by Analysis of Multi-Omics Data
Authors: Gonzales Samantha , Zhao Jane Zizhen , Choi Na Young , Acharya Prabha , Jeong Sehoon , Lee Moo-Yeal
Published: September 2023

Background
Despite thousands of variants identified by genome-wide association studies (GWAS) to be associated with autism spectrum disorder (ASD), it is unclear which mutations are causal because most are noncoding. Consequently, reliable diagnostic biomarkers are lacking. RNA-seq analysis captures biomolecular complexity that GWAS cannot by considering transcriptomic patterns. Therefore, integrating DNA and RNA testing may reveal causal genes and useful biomarkers for ASD.
Methods
We performed gene-based association studies using an adaptive test method with GWAS summary statistics from two large Psychiatric Genomics Consortium (PGC) datasets (ASD2019: 18,382 cases and 27,969 controls; ASD2017: 6,197 cases and 7,377 controls). We also investigated differential expression for genes identified with the adaptive test using an RNA-seq dataset (GSE30573: 3 cases and 3 controls) and DESeq2.
Results
We identified 5 genes significantly associated with ASD in ASD2019 (KIZ-AS1, p = 8.67×10− 10; KIZ, p = 1.16×10− 9; XRN2, p = 7.73×10− 9; SOX7, p = 2.22×10− 7; LOC101929229 (also known as PINX1-DT), p = 2.14×10− 6). Two of the five genes were replicated in ASD2017: SOX7 (p = 0.00087) and LOC101929229 (p = 0.009), and KIZ was close to the replication boundary of replication (p = 0.06). We identified significant expression differences for SOX7 (p = 0.0017, adjusted p = 0.0085), LOC101929229 (p = 5.83×10− 7, adjusted p = 1.18×10− 5), and KIZ (p = 0.00099, adjusted p = 0.0055). SOX7 encodes a transcription factor that regulates developmental pathways, alterations in which may contribute to ASD.
Limitations:
The limitation of the gene-based analysis is the reliance on a reference population for estimating linkage disequilibrium between variants. The similarity of this reference population to the population of study is crucial to the accuracy of many gene-based analyses, including those performed in this study. As a result, the extent of our findings is limited to European populations, as this was our reference of choice. Future work includes a tighter integration of DNA and RNA information as well as extensions to non-European populations that have been under-researched.
Conclusions
These findings suggest that SOX7 and its related SOX family genes encode transcription factors that are critical to the downregulation of the canonical Wnt/\(\beta\)-catenin signaling pathway, an important developmental signaling pathway, providing credence to the biologic plausibility of the association between gene SOX7 and autism spectrum disorder.
Determinants of Unmet Needs of Contraception among Married Women Aged 15-24 in India: Evidence from NFHS-5
Authors: Keshwani Vanshika , Gupta Saptorshi
Published: September 2023

Keeping in view the substantial risk of obstetric complications due to a high prevalence of pregnancies among adolescent and young adult women across the globe, this study aims to ascertain an association between independent risk factors and unmet needs of contraception among currently married women, aged 15–24 years, living in India. The present study utilized the recently published data from National Family Health Survey (NFHS, Wave-5, 2019-20). The sample size of this study was 72, 714. Univariate and bivariate analysis was used to understand the prevalence and preliminary association of covariates and the dependent variable. Over 18% of women in the selected sample had total unmet needs for contraception which were divided into 14% for spacing and 4% for limiting. Binary logistic regression and multinomial regression were used to determine the independent effect of covariates on total unmet needs, unmet needs for spacing, and unmet needs for limiting while controlling the selected background characteristics. The likelihood of total unmet needs was lesser among women of relatively higher age, higher educational attainment, better wealth status, urban areas, and those hailing from households with males as the head and those with the same desire for children as their husbands. The multinomial analysis found higher education, urban settlement, male head of household and equal desire of couples for children to be associated with lower unmet needs for both spacing and limiting. Additionally, unmet need for spacing was less likely in higher ages, among Hindu women and those belonging to the ‘none’ category of caste. The likelihood of unmet need for limiting was higher among women aged 21–24 and lower among scheduled tribes. To improve the scenario and bring down the prevalence of unmet needs in India, it is important to have targeted interventions among women of various age groups and different socio-demographic sects.
5-fluorouracil-induced coronary vasospasm: A cardiovascular magnetic resonance imaging case report
Authors: Garbis Kelly , Rafiee Moezedin Javad , Luu Judy
Published: September 2023

We report the case of a 45-year old male with metastatic colon cancer who presented with chest pain and transient diffuse ST-segment elevation on electrocardiogram after his third cycle of FOLFOX (folinic acid, fluorouracil, oxaliplatin). Initial transthoracic echocardiogram showed reduced left ventricular ejection fraction of 35% with mildly elevated troponins. Further investigations with cardiovascular magnetic resonance imaging demonstrated recovery of left ventricular function with evidence suggestive of coronary vasospasm. This case report will review the utility of cardiovascular magnetic imaging in the evaluation of underlying etiologies for myocardial injury in patients with low likelihood of obstructive coronary artery disease.
Pulmonary, circulatory and renal considerations in the early postoperative management of the lung transplant recipient
Authors: Girgis Reda , Hadley Ryan , Murphy Edward
Published: September 2023

Lung transplantation volumes and survival rates continue to increase worldwide. Primary graft dysfunction (PGD) and acute kidney injury (AKI) are common early postoperative complications that significantly affect short-term mortality and long-term outcomes. These conditions share overlapping risk factors and are driven, in part, by circulatory derangements. The prevalence of severe PGD is up to 20% and is the leading cause of early death. Patients with pulmonary hypertension are at a higher risk. Prevention and management are based on principles learned from acute lung injury of other causes. Targeting the lowest effective cardiac filling pressure will reduce alveolar edema formation in the setting of increased pulmonary capillary permeability. AKI is reported in up to one-half of lung transplant recipients and is strongly associated with one-year mortality as well as long-term chronic kidney disease. Optimization of renal perfusion is critical to reduce the incidence and severity of AKI. In this review, we highlight key early post- transplant pulmonary, circulatory, and renal perturbations and our center’s management approach.
Migraine and heart: A reality check
Authors: Valecha Jayesh , Khandait Harshwardhan , SK Anagha , Gupta Vasu , Kumawat Sunita , Anamika FNU , Jain Rohit , Dua Dharti
Published: September 2023

Migraine is a common neurological disorder affecting 12% of the global population. The common risk factors are adolescent age, genetics, and female sex, and are triggered by hormonal fluctuations, emotional stress, sensory overload, weather changes, alcohol consumption, fasting, cheese, chocolate, smoked fish, yeast extract, cured meats, artificial sweeteners, food preservatives containing nitrates and nitrites, and sleep disturbances. Migraine with aura is associated with an increased risk of cardiovascular disease events, such as myocardial infarction, angina pectoris, and cardiac arrhythmias, and has recently been added to the QRISK3 cardiovascular disease prediction score. Population-based cohort studies have shown a significant association of migraine with aura and cardiac arrhythmias, most importantly atrial fibrillation. Patients suffering from migraine with aura are at an increased risk for cardiac arrhythmias; thus, it is essential to screen these patients for undiagnosed cardiovascular disorders.
Reoperative CABG in a patient with prior concomitant lung transplantation and two-vessel CABG
Authors: Larson Emily , Lee Anson , Lawton Jennifer , Aziz Hamza
Published: September 2023

Background: Lung transplants (LTx) are being offered to increasingly older patients, and as a result, more concomitant coronary artery disease is being encountered in LTx candidates. While concurrent coronary artery bypass grafting (CABG) and LTx have become more common, the long-term considerations of reoperative CABG in patients following CABG with concomitant LTx are not fully understood.
Case presentation: A 75-year-old man with a history of bilateral LTx and concomitant CABG X 2 15 years prior presented to the emergency room with tachycardia and chest discomfort radiating to the left upper extremity. Emergent coronary angiography revealed severe three- vessel coronary artery disease with two occluded saphenous vein grafts, severe distal obtuse marginal (OM) and left circumflex disease, a collateralized chronic total occlusion of the mid LAD, and tortuosity of the proximal right innominate artery. The patient underwent a complex redo sternotomy and CABG X 2 due to dense adhesions in the mediastinum and pleura bilaterally. The postoperative course was complicated by left leg SVG harvest site cellulitis treated with IV antibiotics and hypervolemia treated with diuresis. The patient was discharged postoperatively on day 13.
Discussion: To our knowledge, this is the first reported successful reoperative CABG in a patient with a history of concomitant LTx and CABG. This case demonstrates feasibility, though additional caution is required due to the technical complexity and risk of immunosuppression in such complex patients.
Combined chest wall and liver hydatid cyst
Authors: Sabzi Feridoun , Faraji Reza
Published: September 2023

The most common location of a hydatid cyst (HC) is the liver, followed by the lungs and other organs. Hydatid cysts in the anterior chest wall are an exceedingly rare complication and much rarer if it is associated with liver HC. A 53-year-old man presented to our clinic with a painless anterior chest wall mass (ACWM). Thoraco-abdominal computed tomography revealed simple cystic masses localized in the ACWM in subcutaneous tissue with no invasion of the peripheral soft tissue and no pulmonary or rib involvement. An echinococcal indirect hemagglutination test was negative. Dermoid cyst was considered as a diagnosis and the encapsulated masses were dissected through its plane in peripheral tissue adhesion and removed completely. Macroscopic and microscopic examination of the specimens confirmed hydatid cysts. Further organ evaluation revealed the liver hydatid cyst. The patient was referred for surgery where he underwent laparotomy and drainage of cyst content and capitonaged into peritoneal cavity. This case report demonstrates that hydatid cysts should be considered as a possible cause for palpable lesions in the chest wall, especially in endemic locations.
Tecnologia e inovação no setor de defesa: uma perspectiva sistêmica
Authors: Waldimir Longo e Pirró , William de Souza de Moreira
Published: September 2023

Este trabalho explora a perspectiva sistêmica para a análise dos processos de desenvolvimento científico-tecnológico a partir da II Guerra Mundial, tendo como ponto de partida a experiência norte-americana. A partir da base conceitual inerente aos sistemas de inovação, analisa-se as condições para o desenvolvimento de um sistema setorial de inovação que atenda às demandas do setor de defesa no Brasil. Considerações finais indicam a existência de óbices e desafios decorrentes das peculiares da realidade nacional.Este trabalho explora a perspectiva sistêmica para a análise dos processos de desenvolvimento científico-tecnológico a partir da II Guerra Mundial, tendo como ponto de partida a experiência norte-americana. A partir da base conceitual inerente aos sistemas de inovação, analisa-se as condições para o desenvolvimento de um sistema setorial de inovação que atenda às demandas do setor de defesa no Brasil. Considerações finais indicam a existência de óbices e desafios decorrentes das peculiares da realidade nacional.
Study on the influencing parameters of rough-strip energy dissipators of curved spillways based on orthogonal tests and numerical simulation
Authors: Zhang Honghong , Mu Zhenwei , Wang Yiyun , Zhou Zhen , Fan Fan , Li Fanqi , Ma Hao
Published: September 2023

Rough-strip energy dissipators (R-SEDs) can be arranged at the bend bottom of curved spillways to dissipate energy and divert flow for bend flow. Using the entropy weight and TOPSIS methods, a multi-criteria evaluation system was established for comprehensive energy dissipation and flow diversion effects of R-SEDs. Orthogonal tests and numerical simulation were conducted to analyze factors affecting these effects (average R-SED height, R-SED angle, R-SED spacing, bend width, bend centerline radius and discharge flow rate). It was found that bend width and bend centerline radius significantly affected R-SEDs' energy dissipation effects. Average R-SED height, R-SED spacing and bend centerline radius significantly affected R-SEDs' flow diversion effects. Bend width, average R-SED height and bend centerline radius significantly affected R-SEDs' combined effects of energy dissipation and flow diversion. Their energy dissipation effects were larger than the flow diversion effects. R-SEDs can effectively alleviate adverse hydraulic phenomena in curved spillways. With the recommended parameters, R-SEDs showed the best performance, with the energy dissipation rate increasing by 18.67% and the water surface superelevation coefficient decreasing by 26.14%. The accuracy of the multi-criteria evaluation system was verified. This study can provide a reference for the R-SED design of similar curved spillways.
Modeling of truncated normal distribution for estimating hydraulic parameters in water distribution systems: taking nodal water demand as an example
Authors: Shao Yu , Li Kun , Zhang Tuqiao , Yang Y. Jeffrey , Chu Shipeng
Published: September 2023

The normal probability density function (PDF) is widely used in parameter estimation in the modeling of dynamic systems, assuming that the random variables are distributed at infinite intervals. However, in practice, these random variables are usually distributed in a finite region confined by the physical process and engineering practice. In this study, we address this issue through the application of truncated normal PDF. This method avoids a non-differentiable problem inherited in the truncated normal PDF at the truncation points, a limitation that can limit the use of analytical methods (e.g., Gaussian approximation). A data assimilation method with the derived formula is proposed to describe the probability of parameter and measurement noise in the truncated space. In application to a water distribution system (WDS), the proposed method leads to estimating nodal water demand and hydraulic pressure key to hydraulic and water quality model simulations. Application results to a hypothetical and a large field WDS clearly show the superiority of the proposed method in parameter estimation for WDS simulations. This improvement is essential for developing real-time hydraulic and water quality simulation and process control in field applications when the parameter and measurement noise are distributed in the finite region.
Literatura marginal/periférica, “novos” saraus e slams
Authors: De Souza Almeida Itamara Patrícia , Marinho Ana Cristina
Published: September 2023

Este artigo tem por objetivo investigar o modo como os “novos” saraus e os slams de poesia potencializam a literatura marginal/periférica, produção literária e “extraliterária” (NASCIMENTO, 2009) advinda de periferias brasileiras que surge com este selo, em meados dos anos 2000, com a publicação dos três atos da Revista Caros Amigos. A revista, intitulada de Caros Amigos Literatura/Marginal: a cultura da periferia, foi idealizada pelo escritor Ferréz e aglutinou diversos/as escritores/as, ativistas, artistas periféricos/as, em especial da cidade de São Paulo. A hipótese levantada no texto é de que os “novos” saraus, expressão utilizada por Lucía Tennina (2017), e os slams de poesia potencializam a literatura marginal/periférica, pois corroboram com a lógica coletiva que ela evoca desde o seu início e fortalecem outras dimensões da literatura associadas aos signos da oralidade e da performance, além da dimensão cidadã e de uma articulação com movimentos sociais como o hip-hop.
Aceitabilidade de pronomes clíticos e treinamento linguístico na L1 com a tarefa labirinto em indivíduos de alta escolaridade
Authors: Samuel Fonseca de Oliveira Cândido , Weissheimer Janaina
Published: September 2023

Este artigo visa reportar um estudo que investigou o nível de aceitabilidade e os efeitos do treinamento linguístico de pronomes clíticos por meio da tarefa do labirinto como uma ferramenta pedagógica para aprimorar o conhecimento implícito de estruturas da língua nativa de indivíduos de alta escolaridade. Evidências recentes sugerem que o treinamento linguístico baseado em alta exposição a estruturas de menor frequência pode modificar o conhecimento e o comportamento em relação a elas. Analisamos o comportamento de brasileiros falantes de português como primeira língua em relação à aceitabilidade de pronomes clíticos (ênclise e próclise) e verificamos os efeitos de um treinamento remoto com a tarefa do labirinto, comparando os resultados de um pré-teste e de um pós-teste, nos quais medimos julgamentos de aceitabilidade. Em relação à aceitabilidade dos pronomes, os resultados sugerem que as duas estruturas com os pronomes clíticos geraram comportamentos similares entre os participantes de alta escolaridade, apontando para um efeito da escolaridade sobre o refinamento no processamento da colocação pronominal. Sobre os efeitos do treinamento com a tarefa labirinto, a intervenção implementada não foi suficiente para gerar um efeito na percepção sobre a aceitabilidade das estruturas pronominais.
Luta, força e direito no português socioideológico da educação escolar indígena
Authors: Maroto Guerola Carlos
Published: September 2023

Posicionando-se teórico-metodologicamente na Linguística Aplicada indisciplinar, com base em dados gerados etnograficamente e no auxílio teórico, principalmente, de Mikhail Bakhtin e Michel Foucault; partindo da compreensão da educação escolar indígena enquanto esfera da atividade humana e tomando como materialidade de análise interpretativa excertos de enunciados em um dos gêneros discursivos (palestras em eventos de formação de professores) em que enunciados se organizam de forma relativamente estável nela, este trabalho levanta teorias, sobre três objetos do discurso em particular (luta, força e direito), que repercutem nos enunciados em português de lideranças educacionais indígenas do Sul do Brasil, particularmente guarani e kaingang, através da expressividade das particularidades de composição e seleção de recursos linguísticos com que deixam transparecer tendências e juízos de valor a respeito da realidade. Assim fazendo, busca-se efetivar uma contribuição para consolidar a visão de que uma língua como o português brasileiro, na enunciação, torna-se ideologicamente saturada graças a um plurilinguismo social e histórico de línguas sócio-ideológicas que o descentralizam e desunificam e, nos enunciados, o saturam de teorias, juízos e tendências.
Contato linguístico e influências de línguas orais na Libras: uma análise a partir do léxico da Língua Brasileira de Sinais
Authors: Barbosa da Silva Diego
Published: September 2023

A Libras, principal língua sinalizada no Brasil, compartilha o mesmo espaço geográfico com o português brasileiro e mantém com ele, ao longo da história, vasta interação sociolinguística. O objetivo desta pesquisa é investigar a influência da Língua Portuguesa e outras línguas orais nos sinais da Libras a partir da análise da origem do léxico na Língua Brasileira de Sinais, utilizando como corpus as 4.607 entradas do primeiro volume do Dicionário da Língua de Sinais do Brasil, de Capovilla et alii (2017). Após identificar quatro categorias lexicais quanto à origem: com iconicidade; aparentemente arbitrários; empréstimos de línguas orais; e dêiticos e de apontamento; debruçamo-nos nos empréstimos que poderiam ser subdivididos em datilológicos, inicializados e semânticos. Concluímos que na Libras a maioria dos sinais é de base icônica, 61%, e que apenas uma minoria, de aproximadamente 13% tem influência da Língua Portuguesa, esses últimos adaptados fonologicamente e morfologicamente de uma língua oral-auditiva para uma língua visuoespacial.
Linn da Quebrada: embates (de)coloniais sobre a mulher do ano 2022
Authors: Casado Alves Maria da Penha , Dos Santos Oliveira William Brenno , Gomes Coutinho Renata Karolyne , Silva de Souza Matheus , Ribeiro da Costa Júlia Dayane
Published: September 2023

Em 2022, o Prêmio Geração Glamour premiou a cantora e multi-artista Linn da Quebrada, que se identifica como travesti, na categoria Mulher do Ano. O resultado foi publicado nas redes sociais da Revista Glamour Brasil, e a seção de comentários da publicação se tornou um espaço de embates ideológicos. Levando-se em consideração esse contexto, o presente estudo tem como objetivo a análise das marcas coloniais e decoloniais que emergem dos discursos existentes em enunciados que respondem ao resultado do Prêmio Geração Glamour 2022, os quais colocam, no centro do debate, diferentes formas de assimilar e problematizar o signo ideológico “Mulher”. Esta pesquisa se caracteriza como qualitativa e traz como base teórico-metodológica o Círculo de Bakhtin (BAKHTIN, 2010, 2011, 2015, 2016; VOLÓCHINOV, 2018a, 2018b, 2019), Mignolo (2017), Santos (2007), Walsh (2012) e Maldonado-Torres (2018). Verificou-se que os enunciados que refratam o pensamento da colonialidade buscam reafirmar o binarismo de gênero, o controle sobre os corpos e a sexualidade e a invisibilidade dos sujeitos que rompem com as normas. Os enunciados dos quais emerge o discurso da decolonialidade, por sua vez, denunciam a transfobia e dão a Linn da Quebrada uma posição de visibilidade e legitimidade.
Secretome Derived from Mesenchymal Stem/Stromal Cells: A Promising Strategy for Diabetes and its Complications
Authors: li ling , Hua Siyu , You Lianghui , Zhong Tianying
Published: September 2023

:

Diabetes is a complex metabolic disease with a high global prevalence. The health and quality
of life of patients with diabetes are threatened by many complications, including diabetic foot ulcers,
diabetic kidney diseases, diabetic retinopathy, and diabetic peripheral neuropathy. The application of
mesenchymal stem/stromal cells (MSCs) in cell therapies has been recognized as a potential treatment
for diabetes and its complications. MSCs were originally thought to exert biological effects exclusively
by differentiating and replacing specific impaired cells. However, the paracrine function of factors secreted
by MSCs may exert additional protective effects. MSCs secrete multiple compounds, including
proteins, such as growth factors, chemokines, and other cytokines; nucleic acids, such as miRNAs; and
lipids, extracellular vesicles (EVs), and exosomes (Exos). Collectively, these secreted compounds are
called the MSC secretome, and usage of these chemicals in cell-free therapies may provide stronger
effects with greater safety and convenience. Recent studies have demonstrated positive effects of the
MSC secretome, including improved insulin sensitivity, reduced inflammation, decreased endoplasmic
reticulum stress, enhanced M2 polarization of macrophages, and increased angiogenesis and autophagy;
however, the mechanisms leading to these effects are not fully understood. This review summarizes the
current research regarding the secretome derived from MSCs, including efforts to quantify effectiveness
and uncover potential molecular mechanisms in the treatment of diabetes and related disorders. In
addition, limitations and challenges are also discussed so as to facilitate applications of the MSC secretome
as a cell-free therapy for diabetes and its complications.
Thorough Assessment of Machine Learning Techniques for Predicting
Protein-Nucleic Acid Binding Hot Spots
Authors: Zou Xianzhe , Zhang Chen , Tang Mingyan , Deng Lei
Published: September 2023

Background:

Proteins and nucleic acids are vital biomolecules that contribute significantly to biological life. The precise and efficient identification of hot spots at protein-nucleic acid interfaces is crucial for guiding drug development, advancing protein engineering, and exploring the underlying molecular recognition mechanisms. As experimental methods like alanine scanning mutagenesis prove to be time-consuming and expensive, a growing number of machine learning techniques are being employed to predict hot spots. However, the existing approach is distinguished by a lack of uniform standards, a scarcity of data, and a wide range of attributes. Currently, there is no comprehensive overview or evaluation of this field. As a result, providing a full overview and review is extremely helpful.

Methods:

In this study, we present an overview of cutting-edge machine learning approaches utilized for hot spot prediction in protein-nucleic acid complexes. Additionally, we outline the feature categories currently in use, derived from relevant biological data sources, and assess conventional feature selection methods based on 600 extracted features. Simultaneously, we create two new benchmark datasets, PDHS87 and PRHS48, and develop distinct binary classification models based on these datasets to evaluate the advantages and disadvantages of various machine-learning techniques.

Results:

Prediction of protein-nucleic acid interaction hotspots is a challenging task. The study demonstrates that structural neighborhood features play a crucial role in identifying hot spots. The prediction performance can be improved by choosing effective feature selection methods and machine learning methods. Among the existing prediction methods, XGBPRH has the best performance.

Conclusion:

It is crucial to continue studying hot spot theories, discover new and effective features, add accurate experimental data, and utilize DNA/RNA information. Semi-supervised learning, transfer learning, and ensemble learning can optimize predictive ability. Combining computational docking with machine learning methods can potentially further improve predictive performance.
Portuguese Neonatal Screening Programme: A Retrospective Cohort Study of 18 Years of MS/MS
Authors: Gonçalves Maria Miguel , Marcão Ana , Sousa Carmen , Nogueira Célia , Ferreira Filipa , Fonseca Helena , Rocha Hugo , Vilarinho Laura
Published: September 2023

Introduction: The Portuguese Neonatal Screening Programme (PNSP) identifies patients with rare diseases through nationwide screening. Currently, 27 diseases are diagnosed, amongst which are 24 Inborn Errors of Metabolism (IEM), covering approximately 100% of neonates (1). In 2004, the national laboratory implemented a new screening method, tandem mass spectrometry (MS/MS) to test for amino acids and acylcarnitines. This new protocol revolutionized the PNSP and allowed for the analysis of an increased number of IEM, with clear improvements in treatment timings and clinical outcomes (2).

Methods: From 2004 to 2022, 1 764 830 neonates were screened with MS/MS technology. Those who displayed biochemical profiles indicating an IEM were subjected to molecular characterization via genomic DNA extraction, PCR amplification, and direct Sanger sequencing method of dried blood spot samples.

Results/Case report: A cohort of 681 newborns were diagnosed with an IEM. MCAD deficiency is the most frequent, with 233 confirmed diagnoses, showing predominantly c.985A>G (p.K329E) mutation of the ACADM gene in homozygosity. Approximately 1/3 of the 33 confirmed cases of Glutaric Aciduria type I present homozygous for the c.1204C>T (p.Arg402Trp) mutation in GCDH. Around 60% of cases of MAT II/III deficiency display the dominant mutation of the MAT1A gene, c.791G>A (p.Arg264His). These genetic profiles and others were determined as diagnostic confirmation for 24 of the IEM screened.

Conclusion: This data shows the molecular epidemiology of patients with confirmed IEM diagnosis identified by neonatal screening. Some diseases out of the scope of the PNSP were also detected as a differential diagnosis after biochemical suspicion in the dried blood spot sample. The retrospective analysis of the PNSP allows for an overview of 18 years of achievements accomplished by the national screening for IEM since MS/MS was implemented. For some pathologies with low incidence, it’s difficult to trace a discernible pattern. However, presenting de novo mutations for these diseases might provide insights on how to approach different phenotypes. The aim of this work is to establish the molecular epidemiology of metabolic diseases screened.
Clinical and Laboratory Findings on Glycogen Storage Disease Type V: Results from a Retrospective Observational Study in a Tertiary Hospital
Authors: Pereira Ângela , Diogo da Silva Jorge , Soares Ana Rita , Guimas Arlindo , Rocha Sara , Cardoso Márcio , Garrido Cristina , Azevedo Soares Célia , Nunes Isabel , Maria Fortuna Ana , Quelhas Dulce , Figueiroa Sónia , Ribeiro Rosa , Santos Manuela , Martins Esmeralda , Tkachenko Nataliya
Published: September 2023

Introduction - Glycogen storage disease type V (GSDV, MIM #232600) is an autosomal recessive metabolic myopathy caused by pathogenic variants in the PYGM gene. The characteristic symptoms of exercise intolerance, myalgia, and cramps, which improve after a few minutes of rest, are frequently unrecognized in affected children. When there is clinical suspicion, the initial approach with a forearm exercise test has diagnostic value by detecting low post-exercise plasma lactate-to-ammonia ratio values. The diagnostic algorithm is followed by genetic testing if the results suggest myophosphorylase deficiency.

Methods – This was a retrospective observational study conducted based on reviewing medical records of patients with GSDV in a tertiary hospital. We assessed demographic variables, including the timing of onset and diagnosis, relevant clinical characteristics, and whether genetic testing was performed, including its results.

Results/Case Report - Our goal was to review the GSDV cases in our center to assess our cohort's diagnostic timing and clinical and genetic characteristics. We identified 28 patients from 24 families, three with consanguinity. The mean age at the time of the study was 43 years. While most (26/28; 93%) recalled their first symptoms in childhood/adolescence, only 25% (7/28) were diagnosed then. All patients had exercise intolerance and CK elevation, while about half reported the second wind phenomenon. Genetic testing was performed in 22 patients, revealing biallelic PYGM variants (9 homozygous, 13 compound heterozygous) as the most common (p.R50*).

Conclusion - GSDV is rare and presents in the pediatric age, with subtle manifestations often underestimated for decades. A late diagnosis may negatively impact the psychosocial development of affected children. It is essential to recognize some unique features that facilitate diagnosis: history of exercise intolerance, the second wind sign, and high resting serum CK levels. Identifying the disease-causing variants in PYGM is currently the gold standard for diagnosis as it is less invasive than performing a muscle biopsy, and may promptly diagnose the condition and avoid wrongful labelling of patients.
Molecular Markers Used in the Analysis of Somaclonal Variation During Plant Tissue Culture
Authors: Núñez-Pastrana Rosalía , Cruz-Cruz Carlos A. , Rodríguez-Deméneghi Marco V. , Llarena-Hernández Régulo C. , Ramírez-Mosqueda Marco A.
Published: September 2023

The study of somaclonal variation is a growing research area that has
allowed to identify several biological processes involved in genetic instability during
plant tissue culture. These changes may be undesirable during the micropropagation of
elite plants or desirable during plant breeding programs. There are different molecular
techniques that allow to analyze this somaclonal variation. Due to the progress that has
been made in the manipulation and analysis of DNA, the number of molecular markers
has increased to achieve this objective. These methods have been increasing in number,
while some of them have been widely used since their development [simple sequence
repeat (SSR), inter simple sequence repeats (ISSRs), amplified fragment length
polymorphism (AFLP), and random amplified polymorphic DNA (RAPD)], others,
such as retrotransposon amplification, SSR-markers derived from expressed sequence
tags, targeted region amplification polymorphism (TRAP), transcribed sequences
(RNAseq). Whole genome sequencing is increasing their use and they complement
each other by providing more information, allowing to link genetic markers with
specific phenotypes in somaclonal variants. The aim of this chapter is to highlight the
methodology of the most commonly used molecular markers to assess somaclonal
variation during plant tissue culture.
ESTUDO DE CASO SOBRE O GAEPE-BRASIL NO ENFRENTAMENTO DOS DESAFIOS DA POLÍTICA NACIONAL DE EDUCAÇÃO
Authors: Pinto Coelho Saulo , Rodrigues Salgado Maria , Sousa da Cunha Safe Diva Júlia , Rocha Arantes Bruno
Published: September 2023

Este artigo apresenta resultados parciais de pesquisa empírica sobre o arranjo institucional de articulação multinível e multi-setorial, denominado Gabinete de Articulação para o Enfrentamento da Pandemia na Educação no Brasil (Gaepe Brasil); atualmanete, Gabinete de Articulação para a Efetividade da Política da Educação no Brasil. A iniciativa visa a reunir instituições em uma conversação para tratar de temas estratégicos e gargalos da educação, buscando consensos mínimos em problemas hipercomplexos, de modo a contribuir para uma efetividade articulada da política nacional de educação. Tem-se como referencial teórico a Abordagem Direito e Políticas Públicas, desenvolvido por autores como Bucci, Coelho, Bitencout, Motta, bem como o Novo Realismo Jurídico, de matriz norteamericana (Clune) aplicado à análise jurídica de políticas públicas. Tendo como metodologia de abordagem o Estudo de Caso, objetiva-se realizar diagnóstico jurídico-institucional da percepção dos participantes do Gaepe Brasil quanto à influência e permeabilidade institucional dessa governança multinível nas respectivas instituições participantes (dos três poderes e de todas as esferas federativas). Adota-se como método de procedimento principal para coleta de dados a entrevista semi-estruturada e como método de procedimento para a análise qualitativa das informações coletadas a técnica da Teorização Fundamentada em Dados – TFD (Cappi, 2017). Realiza-se uma análise comparativa das percepções de diferentes representantes institucionais e seus discursos, para definir enunciados teóricos abertos, dos quais derivam enunciados teóricos condensados, para inferir, de modo controlável e com transparência dos critérios científicos adotados, uma avaliação diagnóstica do desempenho do Gaepe Brasil, enquanto experiência inovadora de articulação, em seu primeiro ano de funcionamento.
DIREITO ADMINISTRATIVO COMO AVENTURA EXISTENCIAL E AS PERIPÉCIAS DE UM INSUBORDINADO
Authors: Justen Filho Marçal
Published: September 2023

O texto examina a evolução do direito administrativo brasileiro no período desde a década de 1970 até o presente. Toma em vista a trajetória pessoal do autor, indicando as variações da sua experiência pessoal e das condições da realidade brasileira no período.
MEMORABILIA DE DIREITO ADMINISTRATIVO (1984-2022)
Authors: Bockmann Moreira Egon
Published: September 2023

O artigo trata da trajetória do aprendizado e ensino do Direito Administrativo por parte do autor nos últimos 38 anos. Narra a experiência docente e discente, seus desafios e variações. Culmina na experiência relativa à aplicação não só das novas técnicas (estudo de casos e role-playing), mas especialmente nas altas expectativas geradas pelo compromisso do ensino do Direito em universidades públicas.
A Case of Patient with Bilateral Cochleovestibular Function Loss due to Infratentorial Superficial Siderosis
Authors: Lee Gyuman , Mun Youngmin , Shim Dae Bo
Published: September 2023

Superficial siderosis (SS) is a rare neurodegenerative condition characterized by hemosiderin deposition in the central nervous system, which sometimes leads to sensorineural hearing loss and vestibular dysfunction. This case report details the diagnosis and treatment of a 63-year-old female patient presenting with a yearlong history of postural instability and recent symptoms of sudden right-sided hearing loss and imbalance. Physical examination and imaging revealed bilateral deafness and infratentorial SS. Treatment, including medication, vestibular exercises, high-dose steroids, and hyperbaric oxygen therapy, led to a significant alleviation of dizziness but no improvement in hearing. This case emphasizes the need for clinicians to consider SS in patients presenting with sudden-onset hearing loss and dizziness, even without prior any medical history or trauma, to accurately identify the underlying cause.
The Effect of Problem-Based Learning on the Critical Thinking Skills of Elementary School Students
Authors: Darmawati Yuliana , Mustadi Ali
Published: September 2023

This study aims to determine: (1) the difference in critical thinking skills between students taught using problem-based learning and expository learning, and (2) the influence of implementing problem-based learning on students' critical thinking skills. This study was quasi-experimental research. The study population consisted only of fifth-grade students from SD Negeri 2 Krikilan. In the experimental group, the learning process took place using the problem-based learning model, while in the control group, it took place in an expository manner. The instruments used were tests that measure students' critical thinking abilities in cognitive aspects and a behavioral scale that measures students' critical thinking abilities in behavioral aspects. The data were then analyzed using: (1) descriptive statistics to describe critical thinking skills and learning outcomes, and (2) inferential statistics using independent sample t-tests and MANOVA to test the research hypotheses at a significance level of 5% (α = 0.05). The research findings indicate that: (1) there is a significant difference in students' critical thinking skills between the group taught using problem-based learning and the group taught using expository learning, with a p-value of 0.004, and (2) the implementation of problem-based learning positively and significantly influences students' critical thinking skills, with a significance value of 0.005.
Developing of Literacy Skills in Writing Stories for Elementary School by Using Big Book
Authors: Zainuddin Mohammad , Saifudin Ahmad , Lestariningsih Lestariningsih , Nahdiyah Umi
Published: September 2023

The aim of this study is to describe the process and the result of developing literacy skills in writing stories for Elementary School by Using Big Book. This study uses research and development research methods. The steps taken from the ADDIE development model were used in this research's research model for the development of teaching and learning media, which included five stages, namely (analysis), (design), (development), (implementation), and (evaluation). The subjects of the preliminary field test were grades 4, 5, and 6 using the random sampling method. The research data was obtained through the interview technique which was conducted after the observation process of classroom learning within a period of 3 months of classroom learning. The data was collected by observation, interviews, product validation, and questionnaires. The results of this study resulted in a Big Book-based thematic textbook product with the TPACK model that has been tested and validated by experts. The average results starting from the assessment of the feasibility of big book textbooks by material testing, feasibility of textbooks by media experts, feasibility of big book textbooks by classroom teachers, feasibility of big book textbooks by small group testing, and feasibility of big book textbooks by testing field obtained an average of 4.35. It means that the big book is very suitable to be used as a teaching medium in literacy learning for students of Wildan Mukholladun.