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1.
Artículo en Inglés, Portugués | LILACS | ID: biblio-1561703

RESUMEN

Introdução: A lombalgia é uma condição prevalente e que apresenta importante impacto na capacidade funcional e na qualidade de vida, sendo a sua correta abordagem na Atenção Primária à Saúde fundamental para a identificação e o estabelecimento de um diagnóstico etiológico precoce de possíveis patologias que possam estar relacionadas a desfechos mórbidos e a graves limitações funcionais. Apresentação do caso: Paciente de 56 anos, sexo masculino, hipertenso, foi encaminhado para serviço especializado de reumatologia com histórico de lombalgia havia mais de 20 anos. Ao exame físico foi constatada presença de deformidades da coluna vertebral e extensa limitação de movimentos. Exames radiográficos mostravam esclerose de articulações sacroilíacas, osteopenia difusa e coluna vertebral em aspecto de "bambu". Conclusões: Constata-se a importância de que na abordagem das lombalgias na atenção primária se busque o reconhecimento de possíveis etiologias graves e potencialmente incapacitantes que possam estar subjacentes à queixa de dor lombar. Com esse objetivo, é fundamental o reconhecimento das chamadas red flags relacionadas às lombalgias, além de sua caracterização como mecânica ou inflamatória. Perante a atuação da atenção primária no oferecimento de um cuidado pautado na integralidade e na prevenção de agravos, reafirma-se a importância de uma avaliação clínica pormenorizada das lombalgias nesse nível de atenção à saúde.


Introduction: Low back pain is a prevalent condition that has an important impact on functional capacity and quality of life, and its correct approach in Primary Care is fundamental to the identification and establishment of an early etiological diagnosis of possible pathologies that may be related to outcomes morbid conditions and serious functional limitations. Case presentation: 56-year-old male patient, hypertensive, referred to a specialized rheumatology service with a history of low back pain for over 20 years. Physical examination revealed the presence of spinal deformities and extensive movement limitations. Radiographic examinations showing sclerosis of the sacro-iliac joints, diffuse osteopenia and a "bamboo" appearance of the spine. Conclusions: It is important that in the approach of low back pain in Primary Care, we seek to recognize possible serious and potentially disabling etiologies that may underlie the complaint of low back pain. For that, it is essential to recognize the so-called "red flags" related to low back pain, in addition to its characterization as mechanical or inflammatory. Given the role of Primary Care in offering care based on integrality and in the prevention of injuries, the importance of a detailed clinical assessment of low back pain at this level of health care is reaffirmed.


Introducción: La lumbalgia es una patología prevalente que tiene un impacto importante en la capacidad funcional y la calidad de vida, y su correcto abordaje en Atención Primaria de Salud es fundamental para la identificación y establecimiento de un diagnóstico etiológico precoz de posibles patologías que puedan estar relacionadas con los resultados, condiciones morbosas y limitaciones funcionales graves. Presentación del caso: Paciente masculino de 56 años, hipertenso, remitido a servicio especializado de reumatología con antecedentes de dolor lumbar de más de 20 años. El examen físico reveló la presencia de deformidades de la columna y amplias limitaciones de movimiento. Los exámenes radiológicos muestran esclerosis de las articulaciones sacroilíacas, osteopenia difusa y una apariencia de "bambú" de la columna. Conclusiones: Es importante que al abordar la lumbalgia en Atención Primaria de Salud busquemos reconocer las posibles etiologías graves y potencialmente incapacitantes que pueden subyacer a la queja de lumbalgia. Con este objetivo, es fundamental reconocer las llamadas "banderas rojas" relacionadas con la lumbalgia, además de su caracterización como mecánica o inflamatoria. Dado el papel de Atención Primaria de Salud a la hora de ofrecer una atención basada en la integralidad y prevención de enfermedades, se reafirma la importancia de una evaluación clínica detallada de la lumbalgia en este nivel de atención sanitaria.


Asunto(s)
Atención Primaria de Salud , Informes de Casos , Enfermedades Musculoesqueléticas , Dolor de la Región Lumbar
2.
Sci Rep ; 14(1): 23097, 2024 10 04.
Artículo en Inglés | MEDLINE | ID: mdl-39367105

RESUMEN

Customer perception is an important consideration factor in evaluating the quality of human-computer interaction services. Sustainable user experiences and marketing strategies can be created by analyzing customer perception. By understanding consumer satisfaction with product services in the customer perception area, appropriate product service failure prevention strategies can be formulated. A service failure evaluation model is proposed in this study, which considers the customer tolerance area to accurately evaluate consumers' behavioral experiences from purchasing to using products. The concept of tolerance area is introduced, and a combination of the fuzzy Failure Mode and Effect Analysis (FMEA) method and the Technique for Order Preference by Similarity to an Ideal Solution (TOPSIS) method is used to construct a human-computer interaction service failure evaluation model. Potential service failure factors of smart speakers are accurately evaluated by this model, and these service failure factors are ranked within the tolerance area. The research identifies voice misinterpretation and signal connectivity issues as the primary risk factors impacting the quality of human-computer interaction for smart speakers. The application of this method not only enhances the evaluation of smart speaker human-computer interaction services quality but also aids in the precise identification and prioritization of critical failure modes. The proposed service failure prevention strategies can reduce consumer dissatisfaction and provide innovative references for smart product design and marketing. The findings bolster empirical evidence for service failure prevention strategies in smart products and pave the way for novel perspectives on enhancing the quality of human-computer interaction services.


Asunto(s)
Comportamiento del Consumidor , Humanos , Percepción , Femenino , Mercadotecnía/métodos , Modelos Teóricos , Masculino , Adulto
3.
Sci Rep ; 14(1): 23220, 2024 Oct 05.
Artículo en Inglés | MEDLINE | ID: mdl-39369130

RESUMEN

Molecular dynamics (MD) simulation of the green ionic liquid [C4mim][PF6] mixed with polar benzonitrile (BNZ) solvent provides detailed insights into their structural and dynamic properties, essential for electrochemistry and materials science applications. The simulations we carried out at varying mole fractions (XBZN) reveal the mixtures' physical, structural, and dynamic properties, with radial, spatial, and combined distribution functions, highlighting the effective interaction through H-bonding involved. The simulation indicates that BZN stacks on the cation butyl tail, providing a significant explanation for the unique experimental observations (following). Adding BZN causes the mixture's liquid dynamics to increase linearly at low XBZN and exponentially at high XBZN, with a notable singular transition at 0.5XBZN. Comprehensive efforts were made to verify and support experimental sum frequency generation (SFG) spectroscopy by simulating the surface structure of the mixtures. Consequently, the simulated BZN stacking structure explains (1) the absence of the C≡N vibrational mode in the SFG spectrum for XBZN < 0.8, and (2) the gradual diminishing of the CH3 SFG signal, which disappears as XBZN approaches 0.5. Finally, this research removes a persistent ambiguity, proving that only the molecular moieties on the surface generate the SFG vibrational signal, while those in the subsurface do not.

4.
Cureus ; 16(9): e68491, 2024 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-39364476

RESUMEN

INTRODUCTION: The neurosurgery residency match has grown increasingly competitive, especially for osteopathic (DO) medical students, amidst the transition to a single accreditation system in 2020. This shift required former American Osteopathic Association (AOA) programs to apply for Accreditation Council for Graduate Medical Education (ACGME) accreditation, leading to a notable reduction in programs with a history of accepting DO applicants. This study aims to explore both potential geographical trends in residency match among recent DO neurosurgical residents and in the number of DO neurosurgical residents pre- and post-ACGME merger. METHODS: Neurosurgery residency programs during the 2023-2024 academic year were identified, and each program's residents, resident degrees, and resident post-graduate years were collected from residency programs' websites. Descriptive statistics were used to analyze the ratios of DO and allopathic (MD) residents, while regression analyses were used to determine the trends in DO residents between 2017 and 2024. DO residents were also collated by state to observe their geographical distribution. RESULTS: A comprehensive cross-sectional analysis of 115 neurosurgery residency programs across the United States from 2016 to 2024 reveals a significant decrease in DO residents, from 14 in 2016 to four in 2024, with an average of six DO residents per year post-merger. A geographical heatmap analysis pinpointed New Jersey, Michigan, and California as states with the highest proportions and numbers of DO neurosurgery residents. CONCLUSION: These findings show the geographical distribution of DO neurosurgery residents in the US. Recognizing and understanding these geographical trends could be essential in the strategic application planning for DO candidates and the need for residency programs to reassess selection criteria to be more inclusive of DO applicants.

5.
Virol J ; 21(1): 236, 2024 Sep 30.
Artículo en Inglés | MEDLINE | ID: mdl-39350155

RESUMEN

BACKGROUND: Cytomegalovirus (CMV) reactivation is a serious problem in recipients of allogeneic hematopoietic stem cell transplantation. Long-term latency depends on specific T cell immune reconstitution, which identifies various pathogens by T cell receptors (TCRs). However, the mechanisms underlying the selection of CMV-specific TCRs in recipients after transplantation remain unclear. METHODS: Using high-throughput sequencing and bioinformatics analysis, the T cell immune repertoire of seven CMV reactivated recipients (CRRs) were analyzed and compared to those of seven CMV non-activated recipients (CNRs) at an early stage after transplant. RESULTS: The counts of unique complementarity-determining region 3 (CDR3) were significantly higher in CNRs than in CRRs. The CDR3 clones in the CNRs exhibit higher homogeneity compared to the CRRs. With regard to T cell receptor ß-chain variable region (TRBV) and joint region (TRBJ) genotypes, significant differences were observed in the frequencies of TRBV6, BV23, and BV7-8 between the two groups. In addition to TRBV29-1/BJ1-2, TRBV2/BJ2-2, and TRBV12-4/BJ1-5, 11 V-J combinations had significantly different expression levels between CRRs and CNRs. CONCLUSIONS: The differences in TCR diversity, TRBV segments, and TRBV-BJ combinations observed between CNRs and CRRs might be associated with post-transplant CMV reactivation and could serve as a foundation for further research.


Asunto(s)
Infecciones por Citomegalovirus , Citomegalovirus , Trasplante de Células Madre Hematopoyéticas , Receptores de Antígenos de Linfocitos T , Trasplante Homólogo , Trasplante de Células Madre Hematopoyéticas/efectos adversos , Humanos , Citomegalovirus/inmunología , Citomegalovirus/genética , Infecciones por Citomegalovirus/virología , Infecciones por Citomegalovirus/inmunología , Masculino , Receptores de Antígenos de Linfocitos T/genética , Receptores de Antígenos de Linfocitos T/inmunología , Adulto , Femenino , Persona de Mediana Edad , Trasplante Homólogo/efectos adversos , Regiones Determinantes de Complementariedad/genética , Receptores de Trasplantes , Secuenciación de Nucleótidos de Alto Rendimiento , Adulto Joven , Activación Viral , Genotipo , Linfocitos T/inmunología , Adolescente , Biología Computacional/métodos
6.
Mar Pollut Bull ; 208: 117038, 2024 Oct 02.
Artículo en Inglés | MEDLINE | ID: mdl-39361992

RESUMEN

Eutrophication intensifies Harmful Macroalgae Blooms (HMBs) in coastal environments, reducing habitat suitability for organisms and creating significant challenges for small-scale artisanal fishers. Leveraging fishers' memories, we analyzed over 20 years of data on Ulva lactuca blooms and their effects on fishing activities and fish resources in a tropical semi-arid region of Brazil. We estimated the timing, seasonality, and impacts of these bloom episodes on fish catches, fishing gears, and fishery revenues. Since 2010, blooms have become more frequent, particularly during dry seasons in shallow estuaries, likely exacerbated by nutrient enrichment, extended water residence time, and inadequate wastewater treatment. Net-based gear is particularly affected, with fish catches decreasing by up to sevenfold during bloom seasons, leading to income losses of approximately 50 %. Addressing eutrophication through active public policies on effluent treatment is crucial to mitigating economic impacts on vulnerable communities and managing future blooms, which are expected to worsen with climate change.

7.
Environ Geochem Health ; 46(11): 463, 2024 Oct 03.
Artículo en Inglés | MEDLINE | ID: mdl-39361192

RESUMEN

Soil Cd contamination has become increasingly prominent in karst regions. Studies have generally elucidated the natural sources of Cd in high-background areas and analyzed their migration and enrichment mechanisms. This study comprehensively analyzed the total content and speciation of Cd in high-background areas using the delayed geochemical hazard (DGH) model to identify the sources of Cd in the region. The results indicated that Cd in the research area followed a pattern of gradual geochemical disasters. In Quaternary soil, brick-red soil, and submergenic paddy soil with hydromorphic characteristics, 32%, 7.69%, and 30% of soil Cd samples exceeded the critical threshold of the releasable total amount, respectively. Based on the DGH model, it was concluded that Cd in this region was mainly influenced by human activities. Field investigations corroborated this conclusion and aligned with the findings. Compared with the traditional source apportionment receptor models (mainly PCA and PMF), the DGH model not only saved considerable time and cost, but also avoided uncertainty associated with the results and complex and varied data processing and computational analysis processes. Moreover, the DGH model was able to identify the factors having the greatest impact on the ecological risk of Cd in the research area, thus facilitating targeted prevention and management planning based on the characteristics or chemical properties of their elements.


Asunto(s)
Cadmio , Monitoreo del Ambiente , Contaminantes del Suelo , Cadmio/análisis , Contaminantes del Suelo/análisis , Monitoreo del Ambiente/métodos , Suelo/química , Modelos Teóricos , Medición de Riesgo , China , Modelos Químicos
8.
Cell Commun Signal ; 22(1): 470, 2024 Oct 01.
Artículo en Inglés | MEDLINE | ID: mdl-39354571

RESUMEN

PURPOSE: DNA methylation prominently inactivates tumor suppressor genes and facilitates oncogenesis. Previously, we delineated a chromosome 18 deletion encompassing the erythrocyte membrane protein band 4.1-like 3 (EPB41L3) gene, a progenitor for the tumor suppressor that is differentially expressed in adenocarcinoma of the lung-1 (DAL-1) in gastric cancer (GC). METHODS: Our current investigation aimed to elucidate EPB41L3 expression and methylation in GC, identify regulatory transcription factors, and identify affected downstream pathways. Immunohistochemistry demonstrated that DAL-1 expression is markedly reduced in GC tissues, with its downregulation serving as an independent prognostic marker. RESULTS: High-throughput bisulfite sequencing of 70 GC patient tissue pairs revealed that higher methylation of non-CpGs in the EPB41L3 promoter was correlated with more malignant tumor progression and higher-grade tissue classification. Such hypermethylation was shown to diminish DAL-1 expression, thus contributing to the malignancy of GC phenotypes. The DNA methyltransferase inhibitor 5-aza-2'-deoxycytidine (5-aza-CdR) was found to partially restore DAL-1 expression. Moreover, direct binding of the transcription factor CDC5L to the upstream region of the EPB41L3 promoter was identified via chromosome immunoprecipitation (ChIP)-qPCR and luciferase reporter assays. Immunohistochemistry confirmed the positive correlation between CDC5L and DAL-1 protein levels. Subsequent RNA-seq analysis revealed that DAL-1 significantly influences the extracellular matrix and space-related pathways. GC cell RNA-seq post-5-Aza-CdR treatment and single-cell RNA-seq data of GC tissues confirmed the upregulation of AREG and COL17A1, pivotal tumor suppressors, in response to EPB41L3 demethylation or overexpression in GC epithelial cells. CONCLUSION: In conclusion, this study elucidates the association between non-CpG methylation of EPB41L3 and GC progression and identifies the key transcription factors and downstream molecules involved. These findings enhance our understanding of the role of EPB41L3 in gastric cancer and provide a solid theoretical foundation for future research and potential clinical applications.


The EPB41L3 gene, frequently exhibiting haplotype deletions and reduced expression in gastric cancer tissues, points to its potential role as a tumor suppressor. However, tumor suppressor genes are not only influenced by genomic deletions but also by their methylation status. Our study highlights the significantly lower expression of EPB41L3 in gastric cancer compared to adjacent non-cancerous tissues across 262 patients. We also discovered that elevated non-CpG island methylation of EPB41L3 correlates strongly with tumor malignancy progression, based on the analysis of 70 paired gastric cancer samples. Moreover, we identified CDC5L as a crucial transcription factor interacting with the EPB41L3 promoter. Integrative analyses of transcriptomic and single-cell sequencing data further revealed that AREG and COL17A1 are key downstream molecules regulated by DAL-1, with their expression tightly controlled by EPB41L3 methylation and expression levels. These insights enhance our understanding of EPB41L3's role in gastric cancer and could open new avenues for targeted therapies.


Asunto(s)
Metilación de ADN , Regulación Neoplásica de la Expresión Génica , Regiones Promotoras Genéticas , Neoplasias Gástricas , Neoplasias Gástricas/genética , Neoplasias Gástricas/patología , Neoplasias Gástricas/metabolismo , Humanos , Metilación de ADN/genética , Femenino , Masculino , Persona de Mediana Edad , Regiones Promotoras Genéticas/genética , Línea Celular Tumoral , Anciano , Proteínas de la Membrana/genética , Proteínas de la Membrana/metabolismo , Proteínas de Microfilamentos
10.
Des Codes Cryptogr ; 92(11): 3355-3369, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-39355283

RESUMEN

We introduce a formal framework to study the multiple unicast problem for a coded network in which the network code is linear over a finite field and fixed. We show that the problem corresponds to an interference alignment problem over a finite field. In this context, we establish an outer bound for the achievable rate region and provide examples of networks where the bound is sharp. We finally give evidence of the crucial role played by the field characteristic in the problem.

11.
Mol Biol (Mosk) ; 58(2): 282-294, 2024.
Artículo en Ruso | MEDLINE | ID: mdl-39355885

RESUMEN

The tick-borne encephalitis virus (TBEV) strain C11-13 (GenBank acc. no. OQ565596) of the Siberian genotype was previously isolated from the brain of a deceased person. TBEV C11-13 variants obtained at passages 3 and 8 in SPEV cells were inoculated into the brains of white mice for subsequent passages. Full genome sequences of all virus variants were analyzed by high-throughput sequencing. A total of 41 single nucleotide substitutions were found to occur mainly in the genes for the nonstructural proteins NS3 and NS5 (GenBank MF043953, OP902894, and OP902895), and 12 amino acid substitutions were identified in the deduced protein sequences. Reverse nucleotide and amino acid substitutions were detected after three passages through mouse brains. The substitutions restored the primary structures that were characteristic of the isolate C11-13 from a human patient and changed during the eight subsequent passages in SPEV cells. In addition, the 3'-untranslated region (3'-UTR) of the viral genome increased by 306 nt. The Y3 and Y2 3'-UTR elements were found to contain imperfect L and R repeats, which were probably associated with inhibition of cellular XRN1 RNase and thus involved in the formation of subgenomic flaviviral RNAs (sfRNAs). All TBEV variants showed high-level reproduction in both cell cultures and mouse brains. The genomic changes that occurred during successive passages of TBEV are most likely due to its significant genetic variability, which ensures its efficient reproduction in various hosts and its broad distribution in various climatic zones.


Asunto(s)
Virus de la Encefalitis Transmitidos por Garrapatas , Genoma Viral , Proteínas no Estructurales Virales , Virus de la Encefalitis Transmitidos por Garrapatas/genética , Animales , Ratones , Humanos , Proteínas no Estructurales Virales/genética , Proteínas no Estructurales Virales/metabolismo , Regiones no Traducidas 3'/genética , Encefalitis Transmitida por Garrapatas/virología , Encefalitis Transmitida por Garrapatas/genética , Sustitución de Aminoácidos , Cultivo de Virus/métodos , Encéfalo/virología , Encéfalo/metabolismo , Serina Endopeptidasas/genética , Serina Endopeptidasas/metabolismo , Línea Celular , Proteasas Virales , Nucleósido-Trifosfatasa , ARN Helicasas DEAD-box
12.
Biochem Genet ; 2024 Oct 02.
Artículo en Inglés | MEDLINE | ID: mdl-39356353

RESUMEN

Cytomegalovirus (CMV) infection is common and becomes a particular concern in immunocompromised patients. Understanding the potential role CMV plays in breast cancer patients' disease progression is important for providing more patient-specific treatments. In this study, we analyzed whether a breast cancer patient's blood-sourced T-cell receptor (TCR) complementarity determining-3 (CDR3) amino acid (AA) sequences could provide an indication of the impact of a systemic CMV infection. Specifically, we assessed the chemical complementarity of patient TCR CDR3 AAs and CMV antigens to determine whether patients with greater complementarity also represented different survival probabilities. Initially, we examined five distinct CMV antigens, of which two, IE1 and UL29, represented TCR (TRA+ RB)-CDR3-CMV antigen complementarity scores (CSs) whereby cases representing the upper 50th percentile of CSs had a worse overall survival (log-rank p = 5.034E-3, for IE1). Then, an analysis of CSs representing previously identified, TCR IE1 epitopes indicated that greater TRB CDR3-IE1 epitope complementarities represented a worse OS (log-rank p = 0.0111). These results raise the question of whether a systemic, anti-CMV response leads to increased systemic inflammation, which is either directly or indirectly supportive of tumor growth; or are patients succumbing to a direct impact of CMV functions on tumor growth or metastasis?

13.
Stat Pap (Berl) ; 65(1): 309-334, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-39355411

RESUMEN

The general problem of constructing regions that have a guaranteed coverage probability for an arbitrary parameter of interest ψ ∈ Ψ is considered. The regions developed are Bayesian in nature and the coverage probabilities can be considered as Bayesian confidences with respect to the model obtained by integrating out the nuisance parameters using the conditional prior given ψ . Both the prior coverage probability and the prior probability of covering a false value (the accuracy) can be controlled by setting the sample size. These coverage probabilities are considered as a priori figures of merit concerning the reliability of a study while the inferences quoted are Bayesian. Several problems are considered where obtaining confidence regions with desirable properties have proven difficult to obtain. For example, it is shown that the approach discussed never leads to improper regions which has proven to be an issue for some confidence regions.

14.
J Rheum Dis ; 31(4): 223-229, 2024 Oct 01.
Artículo en Inglés | MEDLINE | ID: mdl-39355550

RESUMEN

Objective: To develop a set of quality indicators (QIs) tailored to improve the care provided to children with juvenile idiopathic arthritis (JIA) in countries across the Asia-Pacific region. Methods: An adaptation of the Research and Development Corporation (RAND)/University of California, Los Angeles (UCLA) Appropriateness Method (RAM) was used. An initial set of 32 QIs was developed after a systematic search of the literature. These were presented to members of a Delphi panel composed of pediatric rheumatologists and other relevant stakeholders from the Asia Pacific League of Associations for Rheumatology Pediatric Special Interest Group (APLAR-Pediatric SIG). After each round, the mean scores for validity and reliability, level of disagreement, and median absolute deviation from the mean were calculated. Results: The panelists were presented with 32 QIs in two rounds of voting, resulting in the formulation of a final set of 22 QIs for JIA. These QIs are categorized within six domains of care, including access to care, clinical assessment, medications and medication monitoring, screening for comorbidities, counseling, and self-efficacy and satisfaction with care. Conclusion: These QIs have been developed to evaluate and improve the quality of care provided to children with JIA, aiming to enhance health outcomes and ensure that healthcare services are tailored to the unique needs of this patient population.

15.
Mar Environ Res ; 202: 106765, 2024 Sep 27.
Artículo en Inglés | MEDLINE | ID: mdl-39357203

RESUMEN

All over the world, the oceans are the final destination of sewage transported by river estuaries, rainwater and other coastal discharges. The risks to human health related to direct contact with water and consumption of contaminated fish are well known, but little is known about the potential for atmospheric exposure to pollutants and pathogens from contaminated seawater. The release of microbial particles from the sea into the atmosphere occurs mainly by the eruption of rising bubbles through the sea surface microlayer (SML) or by sea spray. We investigated the heterotrophic bacteria density and relative abundance in SML and bioaerosols originated on the seafront of Fortaleza (Atlantic coastal zone, northeastern Brazil) influenced by wastewater disposal. There was a difference in the density of total heterotrophic bacteria (THB) according to the matrix analyzed during two seasons: the bacterial count was highest in the SML during the rainy season while the highest number of bacteria in bioaerosols samples was recorded during the dry season. Twenty-nine bacterial taxonomic groups were identified with variable abundance for both environments. These were the same in both matrices, with environmental variables influencing their abundance and composition. The contribution of the marine and continental environments in shaping the microbiota of the SML and coastal bioaerosols was clear, with the constant and representative presence of Enterobacteria standing out. The aerosolization of bacteria resulting from the discharge of untreated sewage is an important issue related to coastal environmental health and ecological safety.

16.
Arch Oral Biol ; 169: 106101, 2024 Sep 27.
Artículo en Inglés | MEDLINE | ID: mdl-39357391

RESUMEN

OBJECTIVES: This study aimed to investigate the genetic etiology of a family affected by junctional epidermolysis bullosa (JEB) and generalized enamel hypoplasia, and to explore how an intronic variant influenced the 5' untranslated region (5'UTR), thereby affecting LAMB3 expression and contributing to the pathogenesis of the disease. DESIGN: Whole-exome and whole-genome sequencing were used to screen for genetic defects in the patient. Mutational consequences were characterized through luciferase assays, splice assay, in silico analyses, and verification using the patient's gingival sample. RESULTS: A nonsense variant (c.2983 C>T; p.Gln995*) and an intronic variant (c.-38+2 T>C) of LAMB3 were identified. In vitro assays demonstrated that the intronic variant activated a cryptic splice site, resulting in a 120 bp intronic inclusion. This splicing alteration significantly reduced the translation efficiency of the downstream coding sequence, while overall mRNA expression remained unaffected. Bioinformatic analysis unveiled the creation of three upstream AUG codons, leading to the presence of two upstream open reading frames (uORFs) and one overlapping ORF. The longer uORF's AUG exhibited a moderate Kozak strength similar to that of the main ORF's AUG. Structural analysis of the mutant 5'UTR sequence revealed a more complex secondary structure, characterized by a large branch loop and a stem-loop preceding the coding sequence's start codon. CONCLUSION: This study suggests that variants affecting the 5'UTR may contribute to the genetic etiology of JEB. These findings could help enhance the diagnostic accuracy and efficiency in JEB patients.

17.
Front Plant Sci ; 15: 1442123, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-39359629

RESUMEN

Introduction: Long-term application of excessive nitrogen (N) not only leads to low N use efficiency (NUE) but also exacerbates the risk of environmental pollution due to N losses. Substituting partial chemical N with organic fertilizer (SP) is an environmentally friendly and sustainable fertilization practice. However, the appropriate rate of SP in rainfed maize cropping systems in semi-arid regions of China is unknown. Methods: Therefore, we conducted a field experiment between 2021 and 2022 in a semi-arid region of Northern China to investigate the effects of SP on maize growth, carbon and N metabolism (C/NM), and NUE. The following treatments were used in the experiment: no N application (CK), 100% chemical N (SP0, 210 kg N ha-1), and SP substituting 15% (SP1), 30% (SP2), 45% (SP3), and 60% (SP4) of the chemical N. The relationship between these indicators and grain yield (GY) was explored using the Mantel test and structural equation modeling (SEM). Results and discussion: The results found that the SP1 and SP2 treatments improved the assimilates production capacity of the canopy by increasing the leaf area index, total chlorophyll content, and net photosynthetic rate, improving dry matter accumulation (DMA) by 6.2%-10.6%, compared to the SP0 treatment. SP1 and SP2 treatments increased total soluble sugars, starch, free amino acids, and soluble protein contents in ear leaves via increasing the enzymatic reactions related to C/NM in ear leaves during the reproductive growth stage compared with SP0 treatment. The highest plant nitrogen uptake (PNU) and nitrogen recovery efficiency were obtained under the SP2 treatment, and the GY and nitrogen agronomic efficiency were higher than the SP0 treatment by 9.2% and 27.8%. However, SP3 and SP4 treatments reduced DMA and GY by inhibiting C/NM in ear leaves compared to SP0 treatment. Mantel test and SEM results revealed that SP treatments indirectly increased GY and PNU by directly positively regulating C/NM in maize ear leaves. Therefore, in the semi-arid regions, substituting 30% of the chemical N with SP could be considered. This fertilizer regime may avoid GY reduction and improve NUE. This study provides new insights into sustainable cultivation pathways for maize in semi-arid regions.

18.
Cureus ; 16(9): e68613, 2024 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-39371861

RESUMEN

INTRODUCTION: In the maxillary anterior region, teeth extraction leads to significant soft and hard tissue changes. Immediate implant placement following extraction aims to reduce bone loss and overall treatment time. However, it may result in adverse soft tissue changes impacting esthetics. This study evaluates the clinical and radiographic outcomes of immediately loaded implants in the maxillary anterior region, focusing on soft tissue preservation and bone status. MATERIALS AND METHODS: This study, conducted from April 2022 to August 2024 at the Department of Oral and Maxillofacial Surgery, Ragas Dental College and Hospital, included 10 immediately loaded implants in seven patients. Following atraumatic extraction, implants were placed and loaded with functional provisional crowns fabricated using three-dimensional (3D) rapid prototyping models. Parameters such as crestal bone loss, buccal and palatal bone width, and interdental papilla thickness were evaluated preoperatively and postoperatively using radiographs and clinical assessments. RESULTS: The study found significant crestal bone loss at both mesial and distal sites over time, with the greatest loss observed at the three-month follow-up. Buccal and palatal bone width showed no significant differences preoperatively and postoperatively. Interdental papilla thickness and overall pink esthetic scores also showed no significant differences between preoperative and postoperative evaluations. CONCLUSION: Immediate implant placement in the maxillary anterior region, using 3D rapid prototyping for custom splint fabrication, demonstrated effective preservation of soft tissue profile and bone architecture. This approach provides functional and esthetic benefits, although careful monitoring of crestal bone loss is necessary.

19.
Cureus ; 16(9): e68629, 2024 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-39371880

RESUMEN

Osteoblastoma is a rare, benign bone tumor primarily affecting the spine but can occasionally involve the jaws, particularly the mandible. This report discusses the case of a 38-year-old female patient presenting with mild pain and swelling in the left mandibular region for the past few months. Clinical, radiographic, and histopathological evaluation confirmed the diagnosis of osteoblastoma. A conservative surgical excision was performed. No recurrence was observed on follow-up. Differential diagnoses included low-grade osteosarcoma, osteoid osteoma, and other bone-forming lesions. This case report emphasizes the importance of distinguishing osteoblastoma from similar lesions to ensure appropriate treatment and favorable prognosis.

20.
Zookeys ; 1213: 289-359, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-39372281

RESUMEN

The males of the family Formicidae of the Malagasy region, including the islands of the southwest Indian Ocean (Madagascar, Mauritius, Reunion, Comoros, and Seychelles) are reviewed. A male-based synopsis of each subfamily and genera are provided. A richly illustrated male-based key to the eight subfamilies and 72 genera for which males are known are provided. The key is specific to the ant genera and species of the Malagasy region. Terminologies for morphology and wing cells are also reviewed. The keys are a product of three decades of collecting across the region. Despite efforts to collect males for all genera, males from five genera (Brachyponera, Chrysapace, Dicroaspis, Linepithema, Ochetellus) were included in the keys based on males from species collected outside the region, and males from one genus (Parvaponera) are unknown globally and not included in the key.

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