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A úlcera aftosa recorrente (UAR) é uma lesão frequente na mucosa oral de etiologia variada e subdividindo-se clinicamente úlceras menores, maiores e hepertiformes. Caracterizada por formato ovoide, recoberto por uma pseudomembrana e um halo eritematoso, seu diagnóstico é essencial para distinguir outras lesões e o tratamento se faz necessário para tratar a lesão e prevenir recorrências. Desta maneira, o presente estudo teve como objetivo descrever de forma analítica sobre o diagnóstico diferencial e o tratamento da UAR em cavidade oral. Tratou-se de um estudo descritivo, exploratório caracterizado como revisão narrativa da literatura. Os critérios de inclusão estabelecidos foram: estudos que abordassem essa temática, com idiomas inglês e português. O levantamento ocorreu em agosto/2023 a janeiro/2024, através das buscas eletrônicas PubMed, LILACS, SciELO, além da literatura cinzenta Google acadêmico e busca livre secundária. Os Descritores em Ciências da Saúde (DeCS/MeSH) foram cruzados com o operador booleano: "differential diagnosis" AND "aphthous ulcer". A UAR é caracterizada por úlceras arredondadas superficiais que pode persistir por dias ou meses. O seu diagnóstico é fundamentado no histórico do paciente e nas características da lesão. É crucial eliminar possíveis causas de úlceras orais, para evitar confusão com outras lesões, como úlceras traumáticas, imunomedia das ou até mesmo um carcinoma. Diversas terapias são empregadas no manejo da UAR, tais como corticosteroides, suplementos vitamínicos, ozonioterapia e o laser de baixa potência. Portanto, compreender o histórico das lesões é fundamental para diferenciação e diante da diversidade de terapias, é essencial ter estudos que dê esse enfoque.

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Recurrent Aphthous Ulcer (RAU) is a common lesion in the oral mucosa with varied etiology, clinically subdivided into minor, major, and herpetiform ulcers. Characterized by an ovoid shape, covered by a pseudomembrane and erythematous halo, its diagnosis is essential to distinguish it from other lesions, and treatment is necessary to address the injury and prevent recurrences. Thus, the present study aimed to analytically describe the differential diagnosis and treatment of RAU in the oral cavity. It was a descriptive, exploratory study characterized as a narrative literature review. Inclusion criteria were established as studies addressing this theme in English and Portuguese. The survey took place from August 2023 to January 2024, through electronic searches on PubMed, LILACS, SciELO, in addition to grey literature such as Google Scholar and secondary free searches. Health Sciences Descriptors (DeCS/MeSH) were crossed with the boolean operator: "differential diagnosis" AND "aphthous ulcer." RAU is characterized by round, superficial ulcers that may persist for days or months. Its diagnosis is based on the patient's history and the characteristics of the lesion. It is crucial to eliminate possible causes of oral ulcers to avoid confusion with other lesions, such as traumatic, immunomediated, or even carcinoma ulcers. Various therapies are employed in the management of RAU, such as corticosteroids, vitamin supplements, ozone therapy, and low-level laser. Therefore, understanding the history of lesions is fundamental for differentiation, and given the diversity of therapies, studies focusing on this aspect are essential.

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ABSTRACT Mantle cell lymphoma of the ocular and periorbital regions is extremely rare but should be considered in the differential diagnosis of lesions affecting the periorbital tissues. In this study, we present a rare case of mantle cell lymphoma of the lacrimal sac in a 65-year-old male presenting with a mass in the lacrimal sac region and epiphora. After clinical examinations and imaging studies, the mucocele was misdiagnosed. Considering the unexpected findings during external dacryocystorhinostomy, a frozen biopsy was performed, which confirmed the diagnosis of lymphoma.

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Objective: The study delved into the epigenetic factors associated with periodontal disease in two lineages of mice, namely C57bl/6 and Balb/c. Its primary objective was to elucidate alterations in the methylome of mice with distinct genetic backgrounds following systemic microbial challenge, employing high-throughput DNA methylation analysis as the investigative tool. Methods: Porphyromonas gingivalis (Pg)was orally administered to induce periodontitis in both Balb/c and C57bl/6 lineage. After euthanasia, genomic DNA from both maxilla and blood were subjected to bisulfite conversion, PCR amplification and genome-wide DNA methylation analysis using the Ovation RRBS Methyl-Seq System coupled with the Illumina Infinium Mouse Methylation BeadChip. Results: Of particular significance was the distinct methylation profile observed within the Pg-induced group of the Balb/c lineage, contrasting with both the control and Pg-induced groups of the C57bl/6 lineage. Utilizing rigorous filtering criteria, we successfully identified a substantial number of differentially methylated regions (DMRs) across various tissues and comparison groups, shedding light on the prevailing hypermethylation in non-induced cohorts and hypomethylation in induced groups. The comparison between blood and maxilla samples underscored the unique methylation patterns specific to the jaw tissue. Our comprehensive methylome analysis further unveiled statistically significant disparities, particularly within promoter regions, in several comparison groups. Conclusion: The differential DNA methylation patterns observed between C57bl/6 and Balb/c mouse lines suggest that epigenetic factors contribute to the variations in disease susceptibility. The identified differentially methylated regions associated with immune regulation and inflammatory response provide potential targets for further investigation. These findings emphasize the importance of considering epigenetic mechanisms in the development and progression of periodontitis.

Assuntos

Metilação de DNA , Modelos Animais de Doenças , Camundongos Endogâmicos BALB C , Camundongos Endogâmicos C57BL , Porphyromonas gingivalis , Animais , Porphyromonas gingivalis/genética , Camundongos , Periodontite/microbiologia , Epigênese Genética , Doenças Periodontais/microbiologia , Suscetibilidade a Doenças , Infecções por Bacteroidaceae/microbiologia , Epigenoma

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Introduction: Human Erythrovirus (parvovirus) B19 infection can produce symptoms similar to those produced by Dengue, Chikungunya, and Zika viruses, making clinical diagnosis difficult. The importance of erythrovirus B19 in human pathology has been increased and reported in numerous studies published globally. Methods: The B19V infection was investigated by real-time PCR in sera samples from patients with signs and symptoms related to classic arboviral symptoms. This study was conducted to provide information on the genetic diversity of Human Erythrovirus B19 (B19V) circulating in the state of Mato Grosso do Sul, Midwest region of Brazil, from 2017 to 2022. A total of 773 sera samples of patients with negative diagnostic results for Dengue, Chikungunya, and Zika, during the study period were analyzed. Results: Erythrovirus DNA was found in 10.6% (82/773) of patients, among them 10 were pregnant women. Four samples were completely sequenced, and the other five partially, to genotype by phylogenetic reconstruction. All samples belong to worldwide dispersed genotype 1, subgenotype 1a. Discussion: The findings of the study demonstrate the importance of including B19V in differential laboratory diagnosis for epidemiological purposes and appropriate patient management. The diagnosis for B19V should be performed, particularly among pregnant women, immunocompromised patients, and individuals with hemolytic diseases, given that the infection is more severe in these cases.

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The multiplex molecular diagnostic assays described for severe acute respiratory syndrome-related coronavirus 2 (SARS-CoV-2), influenza A (IAV) and B (IBV) viruses have been mainly based on real-time reaction, which limits their access to many laboratories or diagnostic institutions. To contribute to available strategies and expand access to differential diagnosis, we describe an end-point multiplex RT-PCR targeting SARS-CoV-2, IAV and IBV with simultaneous endogenous control amplification. Initially, we looked for well-established primers sets for SARS-CoV-2, IAV, IBV and RNAse P whose amplicons could be distinguished on agarose gel. The multiplex assay was then standardized by optimizing the reaction mix and cycle conditions. The limit of detection (LoD) was determined using titrated viruses (for SARS-CoV-2 and IAV) and by dilution from a pool of IBV-positive samples. The diagnostic performance of the multiplex was evaluated by testing samples with different RNAse P and viral loads, previously identified as positive or negative for the target viruses. The amplicons of IAV (146 bp), SARS-CoV-2 (113 bp), IBV (103 bp) and RNAse P (65 bp) were adequately distinguished in our multiplex. The LoD for SARS-CoV-2, IAV and IBV was 0.02 TCID50/ml, 0.07 TCID50/ml and 10-3 from a pool of positive samples, respectively. All samples positive for SARS-CoV-2 (n=70, Ct 17.2-36.9), IAV (n=53, Ct 14-34.9) and IBV (n=12, Ct 23.9-31.9) remained positive in our multiplex assay. RNAse P from negative samples (n=40, Ct 25.2-30.2) was also amplified in the multiplex. Overall, our assay is a timely and alternative tool for detecting SARS-CoV-2 and influenza viruses in laboratories with limited access to supplies/equipment.

Assuntos

COVID-19 , Vírus da Influenza A , Vírus da Influenza B , Reação em Cadeia da Polimerase Multiplex , Ribonuclease P , SARS-CoV-2 , Humanos , Ribonuclease P/genética , SARS-CoV-2/genética , SARS-CoV-2/isolamento & purificação , Vírus da Influenza A/isolamento & purificação , Vírus da Influenza A/genética , Vírus da Influenza B/isolamento & purificação , Vírus da Influenza B/genética , COVID-19/diagnóstico , COVID-19/virologia , Reação em Cadeia da Polimerase Multiplex/métodos , Diagnóstico Diferencial , Influenza Humana/diagnóstico , Influenza Humana/virologia , Sensibilidade e Especificidade , Reação em Cadeia da Polimerase Via Transcriptase Reversa/métodos , Limite de Detecção , RNA Viral/genética , RNA Viral/análise

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The hazard function represents one of the main quantities of interest in the analysis of survival data. We propose a general approach for parametrically modelling the dynamics of the hazard function using systems of autonomous ordinary differential equations (ODEs). This modelling approach can be used to provide qualitative and quantitative analyses of the evolution of the hazard function over time. Our proposal capitalises on the extensive literature on ODEs which, in particular, allows for establishing basic rules or laws on the dynamics of the hazard function via the use of autonomous ODEs. We show how to implement the proposed modelling framework in cases where there is an analytic solution to the system of ODEs or where an ODE solver is required to obtain a numerical solution. We focus on the use of a Bayesian modelling approach, but the proposed methodology can also be coupled with maximum likelihood estimation. A simulation study is presented to illustrate the performance of these models and the interplay of sample size and censoring. Two case studies using real data are presented to illustrate the use of the proposed approach and to highlight the interpretability of the corresponding models. We conclude with a discussion on potential extensions of our work and strategies to include covariates into our framework. Although we focus on examples of Medical Statistics, the proposed framework is applicable in any context where the interest lies in estimating and interpreting the dynamics of the hazard function.

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To conduct differential gene expression analysis, ovaries from the cattle tick Rhipicephalus microplus were dissected at three distinct developmental stages (preingurgitated, immature ingurgitated, and mature ingurgitated). Additionally, undissected intact mature males and complete ingurgitated female ticks without ovaries (carcasses) were also collected to serve as reference samples for analysis. To perform total RNA purification, tissue from ten individuals representing each of the five previously described conditions was pooled. mRNA was isolated from the purified total RNA using the oligo (dT) method. Following fragmentation, double stranded cDNA was synthesized and ligated to sequencing adapters. Suitable-sized fragments were subsequently used for PCR amplification. Libraries were analyzed and quantified using an Agilent 2100 Bioanalyzer and an ABI StepOnePlus Real-Time PCR System. A total of 45.64 Gb bases were sequenced using the Illumina HiSeq sequencing platform. After assembling the samples and correcting for abundance, we obtained 82,877 unigenes. The total length, average length, N50, and GC content of the unigenes were 89,754,828 bp,1,082 bp,2,068 bp and 49.04 % respectively. For functional annotation, the unigenes were aligned with 7 functional databases. The number of unigenes identified in the functional databases were as follows: 32,518 (NR:39.24 %), 10,259 (NT:12.38 %), 23,624 (Swissprot:28.50 %), 22,203 (KOG:26.79 %), 25,072 (KEGG:30.25 %), 17,435(GO:21.04 %), and 23,220 (InterPro:28.02 %). Unigene candidate coding regions (CDS) among the unigenes were predicted using TransDecoder software and 42,143 CDS were detected. We also detected 10,522 simple sequence repeats (SSRs) distributed on 8,126 unigenes, and predicted 4,672 transcription factors (TF) coding unigenes. Our data can be used to identify genes that are important for male and female tick and arachnid reproduction and tick general physiology.

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The differential diagnosis of supratentorial brain tumours in children can be challenging, especially considering the recent changes to the WHO classification of CNS tumours published in 2021. Many new tumour types have been proposed which frequently present in children and young adults and their imaging features are currently being described by the neuroradiology community. The purpose of this article is to provide guidance to residents and fellows new to the field of paediatric neuroradiology on how to evaluate an MRI of a patient with a newly diagnosed supratentorial tumour. Six different approaches are discussed including: 1. Tumour types, briefly discussing the main changes to the recent WHO classification of CNS tumours, 2. Patient age and its influence on incidence rates of specific tumour types, 3. Growth patterns, 4. Tumour location and how defining the correct location helps in narrowing down the differential diagnoses and 5. Imaging features of the tumour on DWI, SWI, FLAIR and post contrast sequences.

Assuntos

Imageamento por Ressonância Magnética , Neoplasias Supratentoriais , Humanos , Neoplasias Supratentoriais/diagnóstico por imagem , Neoplasias Supratentoriais/patologia , Criança , Imageamento por Ressonância Magnética/métodos , Diagnóstico Diferencial , Fatores Etários , Meios de Contraste

RESUMO

The development and application of an electrochemical sensor is reported for detection of poly(3-hydroxybutyrate) (P3HB) - a bioplastic derived from agro-industrial residues. To overcome the challenges of molecular imprinting of macromolecules such as P3HB, this study employed methanolysis reaction to break down the P3HB biopolymer chains into methyl 3-hydroxybutyrate (M3HB) monomers. Thereafter, M3HB were employed as the target molecules in the construction of molecularly imprinted sensors. The electrochemical device was then prepared by electropolymerizing a molecularly imprinted poly (indole-3-acetic acid) thin film on a glassy carbon electrode surface modified with reduced graphene oxide (GCE/rGO-MIP) in the presence of M3HB. Electrochemical impedance spectroscopy (EIS), cyclic voltammetry (CV), scanning electron microscopy with field emission gun (SEM-FEG), Raman spectroscopy, attenuated total reflection Fourier-transform infrared (ATR-FTIR) and X-ray Photoelectron Spectroscopy (XPS) were employed to characterize the electrode surface. Under ideal conditions, the MIP sensor exhibited a wide linear working range of 0.1 - 10 nM and a detection limit of 0.3 pM (n = 3). The sensor showed good repeatability, selectivity, and stability over time. For the sensor application, the bioproduction of P3HB was carried out in a bioreactor containing the Burkholderia glumae MA13 strain and sugarcane byproducts as a supplementary carbon source. The analyses were validated through recovery assays, yielding recovery values between 102 and 104%. These results indicate that this MIP sensor can present advantages in the monitoring of P3HB during the bioconversion process.

Assuntos

Burkholderia , Técnicas Eletroquímicas , Eletrodos , Grafite , Hidroxibutiratos , Polímeros Molecularmente Impressos , Poliésteres , Grafite/química , Poliésteres/química , Hidroxibutiratos/química , Burkholderia/química , Burkholderia/metabolismo , Técnicas Eletroquímicas/métodos , Técnicas Eletroquímicas/instrumentação , Polímeros Molecularmente Impressos/química , Limite de Detecção , Oxirredução , Poli-Hidroxibutiratos

RESUMO

Beer brewing is a well-known process that still faces great challenges, such as the total consumption of sugars present in the fermentation media. Lager-style beer, a major worldwide beer type, is elaborated by Saccharomyces pastorianus (Sp) yeast, which must ferment high maltotriose content worts, but its consumption represents a notable problem, especially among Sp strains belonging to group I. Factors, such as fermentation conditions, presence of maltotriose transporters, transporter copy number variation, and genetic regulation variations contribute to this issue. We assess the factors affecting fermentation in two Sp yeast strains: SpIB1, with limited maltotriose uptake, and SpIB2, known for efficient maltotriose transport. Here, SpIB2 transported significantly more maltose (28%) and maltotriose (32%) compared with SpIB1. Furthermore, SpIB2 expressed all MAL transporters (ScMALx1, SeMALx1, ScAGT1, SeAGT1, MTT1, and MPHx) on the first day of fermentation, whereas SpIB1 only exhibited ScMalx1, ScAGT1, and MPH2/3 genes. Some SpIB2 transporters had polymorphic transmembrane domains (TMD) resembling MTT1, accompanied by higher expression of these transporters and its positive regulator genes, such as MAL63. These findings suggest that, in addition to the factors mentioned above, positive regulators of Mal transporters contribute significantly to phenotypic diversity in maltose and maltotriose consumption among the studied lager yeast strains.IMPORTANCEBeer, the third most popular beverage globally with a 90% market share in the alcoholic beverage industry, relies on Saccharomyces pastorianus (Sp) strains for lager beer production. These strains exhibit phenotypic diversity in maltotriose consumption, a crucial process for the acceptable organoleptic profile in lager beer. This diversity ranges from Sp group II strains with a notable maltotriose-consuming ability to Sp group I strains with limited capacity. Our study highlights that differential gene expression of maltose and maltotriose transporters and its upstream trans-elements, such as MAL gene-positive regulators, adds complexity to this variation. This insight can contribute to a more comprehensive analysis needed to the development of controlled and efficient biotechnological processes in the beer brewing industry.

Assuntos

Cerveja , Fermentação , Proteínas Fúngicas , Maltose , Saccharomyces , Trissacarídeos , Maltose/metabolismo , Trissacarídeos/metabolismo , Saccharomyces/genética , Saccharomyces/metabolismo , Cerveja/microbiologia , Proteínas Fúngicas/genética , Proteínas Fúngicas/metabolismo , Transporte Biológico , Proteínas de Transporte de Monossacarídeos/genética , Proteínas de Transporte de Monossacarídeos/metabolismo , Regulação Fúngica da Expressão Gênica

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The majority of central nervous system diseases show high signal intensity on T2-weighted magnetic resonance imaging. Diseases of the central nervous system with low signal intensity are less common, which makes it a finding that helps narrow the differential diagnosis. This was a retrospective analysis of brain and spine magnetic resonance imaging examinations in which that finding was helpful in the diagnostic investigation. We selected the cases of patients examined between 2015 and 2022. All diagnoses were confirmed on the basis of the clinical-radiological correlation or the histopathological findings. We obtained images of 14 patients with the following central nervous system diseases: arteriovenous malformation; cavernous malformation; metastasis from lymphoma; medulloblastoma; embryonal tumor; metastasis from melanoma; Rathke's cleft cyst; Erdheim-Chester disease; aspergillosis; paracoccidioidomycosis; tuberculosis; syphilis; immunoglobulin G4-related disease; and metastasis from a pulmonary neuroendocrine tumor. We described lesions of different etiologies in which the T2-weighted imaging profile helped narrow the differential diagnosis and facilitated the definitive diagnosis.

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A grande maioria das doenças do sistema nervoso central apresenta alto sinal em ponderações T2 na ressonância magnética. As alterações com baixo sinal são menos comuns, de forma que essa característica permite estreitar o diagnóstico diferencial. Analisamos, retrospectivamente, pacientes com imagens de ressonância magnética de crânio e/ou coluna em que este achado foi útil na investigação diagnóstica. Os pacientes foram selecionados no período entre 2015 e 2022 e todos tiveram seus diagnósticos confirmados por estudo clinicorradiológico ou por estudo histopatológico. Obtivemos imagens de 14 pacientes com as seguintes afecções: malformação arteriovenosa, cavernoma, metástase de linfoma, meduloblastoma, tumor embrionário, metástase de melanoma, cisto da bolsa de Rathke, doença de Erdheim-Chester, aspergilose, paracoccidioidomicose, tuberculose, sífilis, doença relacionada à IgG4 e metástase de tumor neuroendócrino de pulmão. Descrevemos lesões de diversas origens etiológicas que, a partir de suas características nas imagens ponderadas em T2, foi possível reduzir o quadro de diagnósticos diferenciais e chegar mais facilmente à hipótese final.

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In the present study, chemical characterisation, thermal analysis and antibacterial activity of honeys from Melipona spp. with occurrence in Caatinga biome of Brazil. The honeys presented pH from 4.07 to 4.14, density of 1.41 g/cm3 and °Brix value of 79.90. The thermogravimetry (TG) analysis presented six-seven events and differential thermal analysis (DTA) presented three-four endothermic peaks. HPLC fingerprint revealed a predominant presence of gallic acid and vanillin. Antioxidant activity evaluated using in vitro 2,2-diphenyl-1-picrylhydrazyl radical (DPPH) radical scavenging with IC50 values in the range of 14.5404 to 15.2454 mg/mL. The honeys also showed antimicrobial activities against Staphylococcus aureus and Pseudomonas aeruginosa using a modified agar diffusion and microdilution method. The results of the present study demonstrate that the honey from stingless bees by Caatinga biome indicate polyphenol compounds, antioxidant activity and in vitro antimicrobial potential. The analytical methos permitted of fingerprint of samples.

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CONTEXT: Due to advances in synthesizing lower-dimensional materials, there is the challenge of finding the wave equation that effectively describes quantum particles moving on 1D and 2D domains. Jensen and Koppe and Da Costa independently introduced a confining potential formalism showing that the effective constrained dynamics is subjected to a scalar geometry-induced potential; for the confinement to a curve, the potential depends on the curve's curvature function. METHOD: To characterize the π electrons in polyenes, we follow two approaches. First, we utilize a weakened Coulomb potential associated with a spiral curve. The solution to the Schrödinger equation with Dirichlet boundary conditions yields Bessel functions, and the spectrum is obtained analytically. We employ the particle-in-a-box model in the second approach, incorporating effective mass corrections. The π - π ∗ transitions of polyenes were calculated in good experimental agreement with both approaches, although with different wave functions.

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Introducción. La neoplasia sólida pseudopapilar de páncreas, también conocida como tumor de Frantz, es una patología poco frecuente, que comprende menos del 3 % de los tumores pancreáticos, y la mayor incidencia se observa en mujeres jóvenes entre la segunda y tercera década de la vida. Su etiología es desconocida. El tratamiento de elección es la resección quirúrgica sin linfadenectomía cuando se encuentra bien localizado. Inclusive aún cuando hay evidencia de metástasis o invasión local, el manejo quirúrgico sigue siendo el tratamiento de elección. Caso clínico. Mujer de 24 años de edad, con masa abdominal palpable, dolorosa, de tres semanas de evolución. La tomografía computarizada mencionó como presunción diagnóstica un tumor de origen pancreático. En la laparotomía se encontró una masa dependiente del cuerpo del páncreas. Se realizó pancreatectomía distal radical con esplenectomía y omentectomía parcial en bloque. Resultados. Durante la cirugía no se presentaron complicaciones y hasta el sexto mes de seguimiento, la evolución fue adecuada y sin recidiva tumoral. Conclusiones. Ante la presencia de masa abdominal, con compromiso pancreático documentado por tomografía computarizada, se debe considerar el diagnóstico de neoplasia sólida pseudopapilar de páncreas, o tumor de Frantz. El tumor de Frantz es una entidad poco frecuente que generalmente se diagnostica de forma incidental o por síntomas inespecíficos en estadios avanzados. El diagnóstico y manejo de esta neoplasia representa un reto y la resección quirúrgica continúa siendo el tratamiento indicado.

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Introduction. Solid pseudopapillary neoplasia of the pancreas, also known as Frantz tumor, is a rare pathology, comprising less than 3% of pancreatic tumors, and the highest incidence is observed in young women between the second and third decades of life. Its etiology is unknown. The treatment of choice is surgical resection without lymphadenectomy when it is well located. Even when there is evidence of metastasis or local invasion, surgical management remains the treatment of choice. Clinical case. A 24-year-old woman presented with a palpable, painful abdominal mass of three weeks' duration. The computed tomography mentioned a tumor of pancreatic origin as a presumptive diagnosis. At laparotomy, a mass dependent on the body of the pancreas was found. Radical distal pancreatectomy with splenectomy and en bloc partial omentectomy was performed. Results. During the surgery there were no complications and until the sixth month of follow-up, the evolution was adequate and without tumor recurrence. Conclusions. In the presence of an abdominal mass, with pancreatic involvement documented by computed tomography, the diagnosis of solid pseudopapillary neoplasia of the pancreas, or Frantz tumor, should be considered, which must be treated surgically. Frantz tumor is a rare entity that is generally diagnosed incidentally or due to nonspecific symptoms in advanced stages. The diagnosis and management of this neoplasia represents a challenge and surgical resection continues to be the indicated treatment.

Assuntos

Humanos , Pancreatectomia , Neoplasias Pancreáticas , Pâncreas , Achados Incidentais , Diagnóstico Diferencial

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Introducción. El esplenúnculo se ha descrito con una incidencia global del 10 al 30 %. Puede ser una entidad de origen congénito o adquirida, frecuentemente está asociada a trauma abdominal o antecedente de esplenectomía por diversas causas. Caso clínico. Mujer en edad media, con antecedente de trauma abdominal y esplenectomía por ruptura traumática, quien 30 años después presenta un cuadro de dolor abdominal. Los estudios imagenológicos identificaron una masa sólida intrapancreática. Resultados. Fue llevada a pancreatectomía distal. Los hallazgos histológicos e inmunohistoquímicos confirmaron que la masa pancreática correspondía a un esplenúnculo intrapancreático adquirido, asociado al evento traumático previo. Conclusión. Los esplenúnculos suelen constituir un "incidentaloma". Los estudios imagenológicos se encuentran limitados, pues la tomografía computarizada, la resonancia nuclear magnética y la ultrasonografía presentan características imagenológicas similares con los tumores pancreáticos hipervascularizados, por lo que se debe practicar el estudio histopatológico durante su valoración. Esta entidad se debe incluir dentro de los diagnósticos diferenciales, con mayor énfasis en aquellos pacientes con historia de trauma abdominal y esplenectomía asociada, un escenario en el que esta lesión puede simular una neoplasia sólida del páncreas, con características malignas.

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Introduction. Splenunculus has been described with an overall incidence of 10 to 30%. It can be an entity of congenital or acquired origin, it is frequently associated with abdominal trauma or a history of splenectomy for various reasons. Clinical case. Middle-aged woman, with a history of abdominal trauma and splenectomy due to traumatic rupture, who 30 years later presents with abdominal pain. Imaging studies identified a solid intrapancreatic mass. Results. She was taken to OR for distal pancreatectomy. The histological and immunohistochemical findings confirmed that the pancreatic mass corresponded to an acquired intrapancreatic splenunculus, associated with the previous traumatic event. Conclusion. Splenuncles usually constitute an "incidentaloma". Imaging studies are limited, since computed tomography, magnetic resonance imaging, and ultrasonography present similar imaging characteristics with hypervascularized pancreatic tumors, so histopathological study must be included during their evaluation. This entity should be included in the differential diagnoses, with greater emphasis on those patients with a history of abdominal trauma and associated splenectomy, a scenario in which this lesion can simulate a solid neoplasm of the pancreas, with malignant characteristics.

Assuntos

Humanos , Pâncreas , Neoplasias Pancreáticas , Esplenectomia , Pancreatectomia , Baço , Esplenose , Diagnóstico Diferencial

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Introducción. La transposición de los órganos debido al situs inversus (SI) es una rara afección que dificulta el diagnóstico de la apendicitis aguda. Esta condición hace que la sintomatología del paciente y los hallazgos al examen físico puedan ser atípicos, lo que demanda el uso de imágenes para la confirmación diagnóstica en la mayoría de los casos. Métodos. Se describieron tres casos de apendicitis en pacientes con diagnóstico de situs inversus. Dos de ellos tenían el antecedente conocido, mientras el tercer caso fue diagnosticado de forma intraoperatoria. Resultados. En dos pacientes se decidió llevar a cirugía vía laparoscópica sin imágenes diagnósticas adicionales. Los pacientes evolucionaron de manera satisfactoria. Conclusión. Siempre se debe considerar la apendicitis dentro de los diagnósticos diferenciales en los pacientes con dolor en fosa ilíaca izquierda. Es fundamental diagnosticar y tratar la apendicitis de manera efectiva para minimizar las complicaciones asociadas. La importancia de la anamnesis y la sospecha clínica del examinador son vitales en estos casos, que se pueden confirmar con las imágenes diagnósticas. Pueden existir casos en donde la condición clínica del paciente no permita la realización de estudios diagnósticos por imágenes; esto apoya cada vez más el uso del abordaje laparoscópico. Se recomienda considerar el abordaje laparoscópico en primera instancia, ya que nos permite la confirmación diagnóstica de situs inversus totalis en caso de que el antecedente sea desconocido y facilita el manejo oportuno de la urgencia.

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Introduction. Organ transposition due to situs inversus (SI) is a rare condition that makes the diagnosis of acute appendicitis difficult. This condition entails that the patient' symptoms and physical examination findings may be atypical, which requires the use of images for diagnostic confirmation in most cases. Clinical cases. Three cases of appendicitis in patients diagnosed with situs inversus are described. Two of them had a known medical history, while the third case was diagnosed intraoperatively. Results. In two patients it was decided to undergo laparoscopic surgery without additional diagnostic images. The patients progressed satisfactorily. Conclusion. Appendicitis should always be considered in the differential diagnoses in patients with pain in the left iliac fossa. It is essential to diagnose and treat appendicitis effectively to minimize associated complications. The importance of the anamnesis and the examiner's clinical suspicion are vital in these cases, which can be confirmed with diagnostic images. There may be cases where the patient's clinical condition does not allow diagnostic imaging studies to be performed, increasingly supports the use of the laparoscopic approach. It is recommended to consider the laparoscopic approach in the first instance, since it allows us to confirm the diagnosis of situs inversus totalisin case the history is unknown and facilitates timely management of the emergency.

Assuntos

Humanos , Apendicectomia , Situs Inversus , Apendicite , Síndrome de Kartagener , Laparoscopia , Diagnóstico Diferencial

RESUMO

Hereditary breast and ovarian cancer (HBOC) syndrome is a genetic condition that increases the risk of breast cancer by 80% and that of ovarian cancer by 40%. The most common pathogenic variants (PVs) causing HBOC occur in the BRCA1 gene, with more than 3850 reported mutations in the gene sequence. The prevalence of specific PVs in BRCA1 has increased across populations due to the effect of founder mutations. Therefore, when a founder mutation is identified, it becomes key to improving cancer risk characterization and effective screening protocols. The only founder mutation described in the Mexican population is the deletion of exons 9 to 12 of BRCA1 (BRCA1Δ9-12), and its description focuses on the gene sequence, but no transcription profiles have been generated for individuals who carry this gene. In this study, we describe the transcription profiles of cancer patients and healthy individuals who were heterozygous for PV BRCA1Δ9-12 by analyzing the differential expression of both alleles compared with the homozygous BRCA1 control group using RT-qPCR, and we describe the isoforms produced by the BRCA1 wild-type and BRCA1Δ9-12 alleles using nanopore long-sequencing. Using the Kruskal-Wallis test, our results showed a similar transcript expression of the wild-type allele between the healthy heterozygous group and the homozygous BRCA1 control group. An association between the recurrence and increased expression of both alleles in HBOC patients was also observed. An analysis of the sequences indicated four wild-type isoforms with diagnostic potential for discerning individuals who carry the PV BRCA1Δ9-12 and identifying which of them has developed cancer.

Assuntos

Alelos , Proteína BRCA1 , Síndrome Hereditária de Câncer de Mama e Ovário , Humanos , Proteína BRCA1/genética , Feminino , Síndrome Hereditária de Câncer de Mama e Ovário/genética , Pessoa de Meia-Idade , Predisposição Genética para Doença , Adulto , Efeito Fundador , Éxons/genética , Neoplasias da Mama/genética , Heterozigoto , Mutação , México , Neoplasias Ovarianas/genética , Relevância Clínica

RESUMO

PURPOSE: This study aims to report clinicopathologic and imaging features of odontogenic myxomas (OM), highlighting uncommon findings. METHODS: Clinicopathologic and imaging data of OMs diagnosed in the five Brazilian diagnostic pathology centers were collected and analyzed. RESULTS: The series comprised 42 females (68.9%) and 19 males (31.1%), with a 2.2:1 female-to-male ratio and a mean age of 34.5±15.4 years (range: 4-80). Clinically, most OMs presented as painless intraoral swelling (n = 36; 70.6%) in the mandible (n=37; 59.7%). Multilocular lesions (n=30; 83.3%) were more common than unilocular lesions (n=6; 16.7%). There was no statistically significant difference between the average size of unilocular and multilocular OMs (p=0.2431). The borders of OMs were mainly well-defined (n=24; 66.7%) with different degrees of cortication. Only seven tumors caused tooth resorption (15.9%), while 24 (54.5%) caused tooth displacement. Cortical bone perforation was observed in 12 (38.7%) cases. Morphologically, OMs were characterized mainly by stellate or spindle-shaped cells in a myxoid background (n=53; 85.5%). Surgical resection was the most common treatment modality (n=15; 65.2%), followed by conservative surgery (n=8; 34.8%). Outcomes were available in 20 cases (32.3%). Seven of these patients had local recurrence (35%). Enucleation was the treatment with the highest recurrence rate (4/7; 57.1%). CONCLUSIONS: OM has a predilection for the posterior region of the jaws of female adults. Despite their bland morphological appearance, they displayed diverse imaging features. Clinicians must include the OM in the differential diagnosis of osteolytic lesions of the jaws. A long follow-up is needed to monitor possible recurrences.

Assuntos

Tumores Odontogênicos , Humanos , Feminino , Masculino , Adulto , Tumores Odontogênicos/patologia , Tumores Odontogênicos/diagnóstico por imagem , Tumores Odontogênicos/cirurgia , Adolescente , Pessoa de Meia-Idade , Criança , Idoso , Pré-Escolar , Adulto Jovem , Idoso de 80 Anos ou mais , Mixoma/patologia , Mixoma/cirurgia , Mixoma/diagnóstico por imagem , Brasil , Neoplasias Maxilomandibulares/patologia , Neoplasias Maxilomandibulares/diagnóstico por imagem , Neoplasias Maxilomandibulares/cirurgia

RESUMO

Satellite DNA (satDNA) consists of tandem repeat sequences that typically evolve rapidly through evolutionary mechanisms, including unequal crossover, transposition events, and others. The evolutionary history of Euchroma gigantea is marked by complex chromosomal evolution between lineages, making this species an interesting model for understanding satDNA evolution at intraspecies level. Therefore, our aim was to comprehend the potential contribution of satDNAs to the greater chromosomal differentiation of evolutionary lineages in E. gigantea by investigating the differential patterns of amplification and contraction of the repeats. To achieve this, we employed de novo identification of satDNA using RepeatExplorer and TAREAN, allowing the satellitome characterization between lineages. A total of 26 satDNA families were identified, ranging from 18 to 1101 nucleotides in length, with most families being shared between individuals/lineages, as predicted by the library hypothesis, except for the satDNA EgiSat21-168 that was absent for Northeast Lineage. The total satDNA content of the individuals was less than 11.2%, and it appeared to increase in two directions following the chromosomal evolution model. Thirteen satDNAs exhibited different patterns of amplification, and nine ones were contracted among individuals. Additionally, most repeats showed a divergence of about 10% for these satDNAs, indicating satellitome differentiation for each lineage/individual. This scenario suggests that the expansion of the satellitome occurred differentially among individuals/lineages of E. gigantea, with the contribution of various DNA turnover mechanisms after geographical isolation, and that they could be involved with karyotype evolution.

Assuntos

Besouros , DNA Satélite , Evolução Molecular , DNA Satélite/genética , Animais , Besouros/genética , Besouros/classificação , Filogenia

RESUMO

This research assessed the feasibility of adding Cochayuyo seaweed flour (at 30, 50, and 70% levels) to rice flour-based paste to improve its 3D printing quality. The paste's rheological properties, printing quality, texture profile, thermal properties, and color of 3D-printed foods were explored. Results showed that pastes with Cochayuyo addition exhibited shear-thinning behavior, and viscosity increased with increased Cochayuyo concentration. Viscoelastic properties and a Texture Profile Analysis (TPA) revealed that Cochayuyo improved mechanical strength and made the paste easier to flow, improving printed food's extrudability, fidelity, and shape retention, which was better observed in RC50 and RC70 printed at 15 mm s-1. A differential scanning calorimetry (DSC) analysis showed a partial substitution of rice flour for Cochayuyo flour in the formulation. This increased the onset and melting peak temperatures and reduced the enthalpy of fusion. CIE color parameters a*, b*, and L* showed that Cochayuyo addition increased the color to yellow and red; however, lightness was considerably reduced. Therefore, Cochayuyo flour could have the potential to be used for the manufacture improvement of 3D-printed food with better rheological, mechanical, thermal, printing quality, and nutritional properties, making possible the exploitation of the native Cochayuyo seaweed, which is highly available in Chile.