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Breast cancer (BC) is the leading cause of death from tumors in women worldwide, influenced by various factors, including genetics. The T allele of the single nucleotide variant (SNV) rs3025039 at position +936 of the VEGFA gene has been reported to affect the mRNA regulatory mechanisms, potentially altering VEGFA expression and increasing BC risk. This study aimed to investigate the association between rs3025039 and BC in Mexican women residing in Jalisco, Mexico. The study included 231 women with a confirmed diagnosis of BC and 201 healthy subjects as a reference group (RG). PCR–RFLP was employed for the genotyping of rs3025039, with the visualization of amplified products using polyacrylamide gel electrophoresis. Significant differences were observed in rs3025039 alleles and genotypes between BC cases and the RG (p = 0.0038). The frequency of the T allele and the CT genotype was higher in the BC group compared to the RG, with a significant difference (p = 0.0006). In conclusion, this research suggests that the SNV rs3025039 is associated with a higher risk of BC in Mexican women. These findings enhance our understanding of the genetic underpinnings of BC in this population, offering potential insights for future studies and interventions.

Primary ciliary dyskinesia (PCD) causes cellular cilia motility alterations, leading to clinical manifestations in the upper and lower respiratory tract and situs abnormalities. The PCD diagnosis was improved after the inclusion of diagnostic tools, such as transmission electron microscopy and genetic screening; however, the PCD screening is a challenge yet. In this context, we aimed to describe the clinical, genetic, and ultra-ciliary characteristics in individuals with clinical suspicion of PCD (cPCD) from a Brazilian Tertiary Hospital. An observational study was carried out with individuals during the follow-up between 2011 and 2021. The individuals were submitted to clinical questionnaires, transmission electron microscopy, and genetic screening for pathogenic variants in PCD-related genes. Those patients were classified according to the degree of suspicion for PCD. In our study, we enrolled thirty-seven cPCD individuals; 20/37 (54.1%) had chronic rhinosinusitis, 28/37 (75.6%) had bronchiectasis, and 29/37 (78.4%) had recurrent pneumonia. A total of 17/37 (45.9%) individuals had transmission electron microscopy or genetic confirmation of PCD; 10 individuals had at least one positive pathogenic genetic variant in the PCD-related genes; however, only seven patients presented a conclusive result according to the American College of Medical Genetics and Genomics and the Association for Molecular Pathology with two pathogenic variants in homozygous or compound heterozygous. The median age at diagnosis was 13 years, and the median time between suspicion and diagnosis was four years. Sixteen patients had class I electron microscopy alterations, seven had class II alterations, and 14 had normal transmission electron microscopy according to the international consensus guideline for reporting transmission electron microscopy results in the diagnosis of PCD (BEAT-PCD TEM Criteria). Genetic screening for pathogenic variants in PCD-related genes and transmission electron microscopy can help determine the PCD diagnosis; however, they are still unavailable to all individuals with clinical suspicion in Brazil. We described ultrastructural alterations found in our population along with the identification of pathogenic variants in PCD-related genes.

Benign odontogenic lesions are rare entities but are very important due to their locally aggressive nature. Odontogenic myxoma is even rarer in children than in adults. There is no evidence in the literature in regard to the best treatment approach, in terms of conservative or aggressive surgery, for this type of tumor. This paper reports a case of odontogenic myxoma in a child treated with a compromised approach through bone osteotomies and a review of the literature about this disease, especially in pediatric patients.

Comentario legislación

Responsabilidad penal médica:comentario a la sentencia de la Corte Suprema de Justicia, Sala de Casación Penal, del 29 de junio de 2016, radicado 41245.

Purpose The decrease in smell in the elderly population is frequent and considered a natural process. However, sometimes it can be associated with the decline of cognitive functions, and it is considered a warning for the early stage of neurodegenerative diseases and social impairment. Objective To assess the prevalence of olfactory dysfunction in previous healthy elderly that attended a tertiary hospital in Brazil as escorts and the clinical alterations associated in this population. Methods Subjects 60 years or over attending the University Hospital of Campinas were evaluated. Each participant answered a questionnaire, followed by an otorhinolaryngological exam with flexible nasal endoscopy and the Connecticut smell test produced by the Connecticut Chemosensory Clinical Research Center (CCCRC). Elderly people with nasosinusal diseases or with a history of nasal surgery were excluded. Results Of the total of 103 participants, 16 (15.5%) reported olfactory complaints and 68 (66%) presented impairment in the olfactory test. It was observed that older individuals showed more changes in olfactory function ( p  = 0.001). Gender, education, lifestyle, comorbidities, medications in use and exposure to pollutants did not influence the impairment olfactory function of this population. Conclusions There is a significant prevalence of olfactory dysfunction in the elderly population evaluated. Most of these elderlies also present an inability to identify odours, not having awareness of this olfactory impairment.

El art. 8 del C.P. consagra la Prohibición de doble incriminación, como una concreción en materia penal del derecho fundamental al non bis in ídem consagrado en el art. 29 de la Constitución Política. De conformidad con la misma, se encuentran proscritas todas aquellas sanciones en las que existe identidad en los sujetos, los hechos y el fundamento. Sin embargo, parece no haber claridad en cuanto a la fundamentación de dicha prohibición ni el significado de las formas de identidad enunciadas. Como consecuencia de ello, tampoco resulta clara la forma de operar de la norma en diversos escenarios, como la concurrencia de sanciones provenientes de distintos sectores del ordenamiento, la sanción reiterada del mismo elemento de una conducta delictiva, ni la excepción en materia de derecho internacional que se consagra en el texto de la misma. Ante este panorama, se presenta un análisis de cada una de las problemáticas enunciadas, y una serie de propuestas interpretativas con el fin de esclarecerlas

The article 8 of colombian Penal Code establishes the prohibition of double jeopardy as a concretion in criminal matters of the fundamental right to non bis in idem esatblished in article 29 of the Political Constitution. According to the latter, all those sanctions in which there is identity in the subjects, the facts and the foundation are forbidden. However, it seems that there is no clarity regarding the basis of this prohibition or the meaning of the indentities enunciated. As a result, it is not clear the way the rule operates in diverse scenarios, such as the concurrence of sanctions from different sectors of the law, the repeated sanction of the same element of criminal conduct, and the exception regarding international law. Faced with this panorama, an analysis of each one of the mentioned problems is presented, and a series of interpretative proposals in order to clarify them.