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1.
Asian Pac J Cancer Prev ; 25(8): 2585-2591, 2024 Aug 01.
Artículo en Inglés | MEDLINE | ID: mdl-39205555

RESUMEN

OBJECTIVE: The objective of this study was to conduct an integrative review, addressing the key findings, biological functions, and clinical significance of these biomolecules in solid tumors. METHODS: This document analyzes the main data on the involvement of snoRNAs in solid tumors. For this, Pubmed and Science direct were used, with keywords. Additionally, a search for the host gene was conducted using the snoDB tool, and its chromosomal location was identified using the Hugo Gene Nomenclature Committee (HGNC). RESULTS: According to research conducted in the literature, the majority of snoRNAs were found to be overexpressed and described as regulators of processes such as invasion, cellular proliferation, apoptosis, and migration. They are associated with clinical prognostic factors such as metastasis and worse survival. CONCLUSION: Therefore, it is essential to expand the investigation of snoRNAs in oncology across different types of tumors. The utilization of these biomolecules may pave the way for innovative clinical applications, such as their use in the early detection of neoplasms in non-invasive samples and as therapeutic targets. Broadening research on snoRNAs across various tumor types is crucial.


Asunto(s)
Biomarcadores de Tumor , Neoplasias , ARN Nucleolar Pequeño , Humanos , ARN Nucleolar Pequeño/genética , Neoplasias/genética , Neoplasias/patología , Biomarcadores de Tumor/genética , Pronóstico
2.
Sci Rep ; 14(1): 17187, 2024 07 26.
Artículo en Inglés | MEDLINE | ID: mdl-39060302

RESUMEN

Germline TP53 pathogenic variants can lead to a cancer susceptibility syndrome known as Li-Fraumeni (LFS). Variants affecting its activity can drive tumorigenesis altering p53 pathways and their identification is crucial for assessing individual risk. This study explored the functional impact of TP53 missense variants on its transcription factor activity. We selected seven TP53 missense variants (c.129G > C, c.320A > G, c.417G > T, c.460G > A, c,522G > T, c.589G > A and c.997C > T) identified in Brazilian families at-risk for LFS. Variants were created through site-directed mutagenesis and transfected into SK-OV-3 cells to assess their transcription activation capabilities. Variants K139N and V197M displayed significantly reduced transactivation activity in a TP53-dependent luciferase reporter assay. Additionally, K139N negatively impacted CDKN1A and MDM2 expression and had a limited effect on GADD45A and PMAIP1 upon irradiation-induced DNA damage. Variant V197M demonstrated functional impact in all target genes evaluated and loss of Ser15 phosphorylation. K139N and V197M variants presented a reduction of p21 levels after irradiation. Our data show that K139N and V197M negatively impact p53 functions, supporting their classification as pathogenic variants. This underscores the significance of conducting functional studies on germline TP53 missense variants classified as variants of uncertain significance to ensure proper management of LFS-related cancer risks.


Asunto(s)
Predisposición Genética a la Enfermedad , Mutación de Línea Germinal , Síndrome de Li-Fraumeni , Mutación Missense , Proteína p53 Supresora de Tumor , Síndrome de Li-Fraumeni/genética , Humanos , Proteína p53 Supresora de Tumor/genética , Brasil , Proteínas Proto-Oncogénicas c-mdm2/genética , Femenino , Inhibidor p21 de las Quinasas Dependientes de la Ciclina/genética , Masculino , Proteínas de Ciclo Celular/genética , Línea Celular Tumoral , Activación Transcripcional/genética , Proteinas GADD45
3.
J Peripher Nerv Syst ; 29(2): 161-172, 2024 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-38873841

RESUMEN

Monoclonal gammopathy-related peripheral neuropathies encompass a spectrum of clinical presentations in which the monoclonal protein directly damages the tissues, including the peripheral nervous system. Given the prevalence of both peripheral neuropathy and monoclonal gammopathy in the general population, these conditions may overlap in clinical practice, posing a challenge for clinicians in determining causality. Therefore, a comprehensive understanding of primary clinical syndromes and their neurophysiological patterns is of great importance for accurate differential diagnoses and effective treatment strategies. In this article, we examine the main forms of monoclonal gammopathies that affect the peripheral nerve. We explore the clinical and electrophysiological aspects and their correlation with each syndrome's corresponding monoclonal protein type. This knowledge is essential for healthcare professionals to diagnose better and manage patients presenting with monoclonal gammopathy-related peripheral nervous system involvement.


Asunto(s)
Paraproteinemias , Enfermedades del Sistema Nervioso Periférico , Humanos , Paraproteinemias/complicaciones , Paraproteinemias/diagnóstico , Enfermedades del Sistema Nervioso Periférico/diagnóstico , Enfermedades del Sistema Nervioso Periférico/etiología , Enfermedades del Sistema Nervioso Periférico/fisiopatología
4.
Neumol. pediátr. (En línea) ; 19(2): 41-45, jun. 2024. tab
Artículo en Español | LILACS | ID: biblio-1566983

RESUMEN

Una de las dificultades más comunes que enfrentan los lectores de artículos del área de la biomedicina y epidemiología es la interpretación del término "significativo". El término "estadísticamente significativo" a menudo se malinterpreta como un resultado "clínicamente significativo". La confusión surge del hecho de que muchas personas equiparan "significativo" con su significado literal de "importante", sin embargo, la significación estadística cuantifica la probabilidad de que los resultados de un estudio se deban al azar, mientras que la significancia clínica refleja la importancia práctica o relevancia en el contexto de la atención médica o práctica clínica. Este artículo aborda la diferencia entre la significación estadística y la relevancia o importancia clínica en la interpretación de los resultados de una investigación biomédica.


One of the most common difficulties faced by readers of articles in the area of biomedicine and epidemiology is the interpretation of the term "significant". The term "statistically significant" is often misinterpreted as a "clinically significant" result. Confusion arises from the fact that many people equate "significant" with its literal meaning of "important," however, statistical significance quantifies the probability that the results of a study are due to chance, while clinical significance reflects the practical importance or relevance in the context of health care or clinical practice. This article addresses the difference between statistical significance and clinical relevance or importance in the interpretation of biomedical research results.


Asunto(s)
Interpretación Estadística de Datos , Investigación Biomédica
5.
Podium (Pinar Río) ; 19(1)abr. 2024.
Artículo en Español | LILACS-Express | LILACS | ID: biblio-1550622

RESUMEN

El presente estudio constituye un trabajo trascendente en el área del conocimiento de la condición física y representa el resultado de investigaciones realizadas en la República de Cuba y en los Estados Unidos Mexicanos como respuesta a la solicitud de ambos países. Fue diseñado estadísticamente, para representar datos oficiales y altamente confiables, con el objetivo de conocer el estado de la condición física de las dos naciones y valorar así, el efecto de los programas de Educación Física que se aplican. Se contó con el apoyo de las organizaciones deportivas y de cultura física al conformar los estudios, cuidadosamente tratados en el diseño de muestra, para ello se contó con un equipo de estadísticos especialistas que tuvieron a su cargo el procesamiento de la información. Los datos de este estudio se consideraron limitados para la publicación y una vez desclasificados se dan conocer. Se utilizaron iguales metodologías en su aplicación, lo que resulta una información valiosa para el perfeccionamiento de los planes y programas que en el campo de la Licenciatura en Cultura Física y se brinda una información que, en su comparación, llama a la reflexión de los especialistas de Educación Física, para continuar el perfeccionamiento de estas especialidades, en general.


O presente estudo constitui um trabalho transcendental na área do conhecimento da aptidão física e representa o resultado de uma pesquisa realizada na República de Cuba e nos Estados Unidos Mexicanos em resposta à solicitação de ambos os países. Foi projetado estatisticamente para representar dados oficiais e altamente confiáveis, com o objetivo de conhecer o estado da aptidão física em ambos os países e, assim, avaliar o efeito dos programas de Educação Física aplicados. As organizações esportivas e de cultura física foram apoiadas na elaboração dos estudos, cuidadosamente tratadas no desenho da amostra, com a ajuda de uma equipe de estatísticos especializados que foram responsáveis pelo processamento das informações. Os dados deste estudo foram considerados limitados para publicação e, uma vez desclassificados, são tornados públicos. Foram utilizadas as mesmas metodologias em sua aplicação, o que resulta em informações valiosas para o aprimoramento dos planos e programas no campo da cultura física e fornece informações que, em sua comparação, exigem a reflexão dos especialistas em educação física, a fim de continuar o aprimoramento dessas especialidades em geral.


The present study constitutes a transcendent work in the area of knowledge of physical condition and represents the result of research carried out in the Republic of Cuba and in the United Mexican States in response to the request of both countries. It was designed statistically, to represent official and highly reliable data, with the objective of knowing the state of the physical condition of the two nations and thus evaluating the effect of the Physical Education programs that are applied. It was had the support of sports and physical culture organizations when forming the studies, carefully treated in the sample design, for this it was had a team of specialist statisticians who were in charge of processing the information. The data from this study was considered limited for publication and will be released once declassified. The same methodologies were used in its application, which is valuable information for the improvement of plans and programs in the field of the Bachelor's Degree in Physical Culture and information is provided that, in comparison, calls for reflection by specialists. of Physical Education, to continue the improvement of these specialties, in general.

6.
BMC Med Res Methodol ; 24(1): 60, 2024 Mar 08.
Artículo en Inglés | MEDLINE | ID: mdl-38459428

RESUMEN

BACKGROUND: The minimal important difference is a valuable metric in ascertaining the clinical relevance of a treatment, offering valuable guidance in patient management. There is a lack of available evidence concerning this metric in the context of outcomes related to female urinary incontinence, which might negatively impact clinical decision-making. OBJECTIVES: To summarize the minimal important difference of patient-reported outcome measures associated with urinary incontinence, calculated according to both distribution- and anchor-based methods. METHODS: This is a systematic review conducted according to the PRISMA guidelines. The search strategy including the main terms for urinary incontinence and minimal important difference were used in five different databases (Medline, Embase, CINAHL, Web of Science, and Scopus) in 09 June 2021 and were updated in January 09, 2024 with no limits for date, language or publication status. Studies that provided minimal important difference (distribution- or anchor-based methods) for patient-reported outcome measures related to female urinary incontinence outcomes were included. The study selection and data extraction were performed independently by two different researchers. Only studies that reported the minimal important difference according to anchor-based methods were assessed by credibility and certainty of the evidence. When possible, absolute minimal important differences were calculated for each study separately according to the mean change of the group of participants that slightly improved. RESULTS: Twelve studies were included. Thirteen questionnaires with their respective minimal important differences reported according to distribution (effect size, standard error of measurement, standardized response mean) and anchor-based methods were found. Most of the measures for anchor methods did not consider the smallest difference identified by the participants to calculate the minimal important difference. All reports related to anchor-based methods presented low credibility and very low certainty of the evidence. We pooled 20 different estimates of minimal important differences using data from primary studies, considering different anchors and questionnaires. CONCLUSIONS: There is a high variability around the minimal important difference related to patient-reported outcome measures for urinary incontinence outcomes according to the method of analysis, questionnaires, and anchors used, however, the credibility and certainty of the evidence to support these is still limited.


Asunto(s)
Incontinencia Urinaria , Humanos , Femenino , Incontinencia Urinaria/diagnóstico , Incontinencia Urinaria/terapia , Encuestas y Cuestionarios , Medición de Resultados Informados por el Paciente
7.
Clin Interv Aging ; 19: 277-287, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38380229

RESUMEN

Null hypothesis significant testing (NHST) is the dominant statistical approach in the geriatric and rehabilitation fields. However, NHST is routinely misunderstood or misused. In this case, the findings from clinical trials would be taken as evidence of no effect, when in fact, a clinically relevant question may have a "non-significant" p-value. Conversely, findings are considered clinically relevant when significant differences are observed between groups. To assume that p-value is not an exclusive indicator of an association or the existence of an effect, researchers should be encouraged to report other statistical analysis approaches as Bayesian analysis and complementary statistical tools alongside the p-value (eg, effect size, confidence intervals, minimal clinically important difference, and magnitude-based inference) to improve interpretation of the findings of clinical trials by presenting a more efficient and comprehensive analysis. However, the focus on Bayesian analysis and secondary statistical analyses does not mean that NHST is less important. Only that, to observe a real intervention effect, researchers should use a combination of secondary statistical analyses in conjunction with NHST or Bayesian statistical analysis to reveal what p-values cannot show in the geriatric and rehabilitation studies (eg, the clinical importance of 1kg increase in handgrip strength in the intervention group of long-lived older adults compared to a control group). This paper provides potential insights for improving the interpretation of scientific data in rehabilitation and geriatric fields by utilizing Bayesian and secondary statistical analyses to better scrutinize the results of clinical trials where a p-value alone may not be appropriate to determine the efficacy of an intervention.


Asunto(s)
Fuerza de la Mano , Proyectos de Investigación , Humanos , Anciano , Teorema de Bayes , Interpretación Estadística de Datos
8.
Clin Transl Oncol ; 26(6): 1519-1531, 2024 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-38206516

RESUMEN

BACKGROUND: Although it has been shown that cyclin dependent kinase inhibitor 2A (CDKN2A) plays a significant role in a number of malignancies, its clinicopathological value and function in small cell lung cancer (SCLC) is unclear and warrants additional research. METHODS: The clinical significance of CDKN2A expression in SCLC was examined by multiple methods, including comprehensive integration of mRNA level by high throughput data, Kaplan-Meier survival analysis for prognostic value, and validation of its protein expression using in-house immunohistochemistry. RESULTS: The expression of CDKN2A mRNA in 357 cases of SCLC was evidently higher than that in the control group (n = 525) combing the data from 20 research centers worldwide. The standardized mean difference (SMD) was 3.07, and the area under the curve (AUC) of summary receiver operating characteristic curve (sROC) was 0.97 for the overexpression of CDKN2A. ACC, COAD, KICH, KIRC, PCPG, PRAD, UCEC, UVM patients with higher CDKN2A expression had considerably worse overall survival rates than those with lower CDKN2A expression with the hazard ratio (HR) > 1. CONCLUSION: CDKN2A upregulation extensively enhances the carcinogenesis and progression of SCLC.


Asunto(s)
Biomarcadores de Tumor , Inhibidor p16 de la Quinasa Dependiente de Ciclina , Neoplasias Pulmonares , Carcinoma Pulmonar de Células Pequeñas , Humanos , Neoplasias Pulmonares/patología , Neoplasias Pulmonares/metabolismo , Neoplasias Pulmonares/mortalidad , Neoplasias Pulmonares/genética , Carcinoma Pulmonar de Células Pequeñas/patología , Carcinoma Pulmonar de Células Pequeñas/metabolismo , Carcinoma Pulmonar de Células Pequeñas/genética , Carcinoma Pulmonar de Células Pequeñas/mortalidad , Inhibidor p16 de la Quinasa Dependiente de Ciclina/metabolismo , Pronóstico , Biomarcadores de Tumor/metabolismo , Biomarcadores de Tumor/genética , Femenino , Masculino , Estimación de Kaplan-Meier , Curva ROC , ARN Mensajero/genética , ARN Mensajero/metabolismo , Persona de Mediana Edad , Tasa de Supervivencia , Estudios Prospectivos , Anciano , Estudios de Casos y Controles , Relevancia Clínica
9.
Rev Bras Ortop (Sao Paulo) ; 58(3): 361-367, 2023 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-37396092

RESUMEN

Multiple myeloma (MM) is a hematological malignancy characterized by unregulated and clonal proliferation of plasma cells in the bone marrow; these cells produce and secrete an anomalous monoclonal immunoglobulin, or a fragment of this, called M protein. The clinical manifestations of MM result from the proliferation of these plasmocytes, the excessive production of monoclonal immunoglobulin and the suppression of normal humoral immunity, leading to hypercalcemia, bone destruction, renal failure, suppression of hematopoiesis and humoral immunity, increasing the risk for the development of infections. The increase in life expectancy of the world population led to a concomitant increase in the prevalence of MM, a pathology that usually affects the elderly population. The aim of this review is to update the reader on epidemiology, diagnostic criteria, differential diagnosis with other monoclonal gammopathies, systemic treatment and prognosis of MM.

10.
Rev. Bras. Ortop. (Online) ; 58(3): 361-367, May-June 2023. tab, graf
Artículo en Inglés | LILACS | ID: biblio-1449818

RESUMEN

Abstract Multiple myeloma (MM) is a hematological malignancy characterized by unregulated and clonal proliferation of plasma cells in the bone marrow; these cells produce and secrete an anomalous monoclonal immunoglobulin, or a fragment of this, called M protein. The clinical manifestations of MM result from the proliferation of these plasmocytes, the excessive production of monoclonal immunoglobulin and the suppression of normal humoral immunity, leading to hypercalcemia, bone destruction, renal failure, suppression of hematopoiesis and humoral immunity, increasing the risk for the development of infections. The increase in life expectancy of the world population led to a concomitant increase in the prevalence of MM, a pathology that usually affects the elderly population. The aim of this review is to update the reader on epidemiology, diagnostic criteria, differential diagnosis with other monoclonal gam-mopathies, systemic treatment and prognosis of MM.


Resumo O mieloma múltiplo (MM) constitui neoplasia maligna de origem hematológica caracterizada pela proliferação desregulada e clonal de plasmócitos na medula óssea; estas células produzem e secretam imunoglobulina monoclonal anômala, ou um fragmento desta, denominado proteína M. As manifestações clínicas do MM decorrem da proliferação destes plasmócitos, da produção excessiva de imunoglobulina monoclonal e da supressão da imunidade humoral normal, levando à hipercalcemia, destruição óssea, insuficiência renal, supressão da hematopoiese e da imunidade humoral,aumentandooriscoparaodesenvolvimento de infecções. O aumento na expectativa de vida da população mundial levou a concomitante incremento na prevalência do MM, patologia que habitualmente acomete a população idosa. O objetivo desta revisão é atualizar o leitor sobre a epidemiologia, critérios diagnósticos, diagnóstico diferencial com outras gamopatias monoclonais, tratamento sistêmico e prognóstico do MM.


Asunto(s)
Humanos , Masculino , Femenino , Procedimientos Ortopédicos , Difosfonatos/uso terapéutico , Procedimientos Quirúrgicos Profilácticos , Fracturas Espontáneas/diagnóstico por imagen , Mieloma Múltiple/radioterapia
11.
Clinics (Sao Paulo) ; 78: 100135, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-36966704

RESUMEN

OBJECTIVE: To explore the changes and clinical significance of serum Neuron-Specific Enolase (NSE) and Squamous Cell Carcinoma antigen (SCC) in patients with lung cancer before and after radiotherapy. METHODS: 82 patients with lung cancer were treated with radiotherapy, and effective clinical intervention was given during the radiotherapy process. The patients were followed up for 1 year after radiotherapy and were divided into a recurrence and metastasis group (n = 28) and a non-recurrence and metastasis group (n = 54) according to their prognosis. Another 54 healthy volunteers examined in the present study's hospital during the same period were selected as the control group. To compare the changes of NSE and SCC levels in serum in patients with lung cancer at admission and after radiotherapy, and to explore their clinical significance. RESULTS: After intervention, NSE and SCC levels in the serum of the two groups of patients were significantly lower than those before intervention, and the levels of CD4+ and CD4+/CD8+ were significantly higher than those before intervention (p < 0.05); the level of CD8+ was not significantly different from that before intervention (p > 0.05). And NSE and SCC levels in the intervention group were significantly lower than those in the routine group, the levels of CD4+, CD4+/CD8+ were significantly higher than those in the routine group (p < 0.05). CONCLUSION: NSE and SCC in serum can preliminarily evaluate the effect of radiotherapy in patients with lung cancer and have a certain predictive effect on prognosis.


Asunto(s)
Relevancia Clínica , Neoplasias Pulmonares , Humanos , Antígenos de Neoplasias , Biomarcadores de Tumor , Neoplasias Pulmonares/metabolismo , Fosfopiruvato Hidratasa
13.
Clinics ; Clinics;78: 100135, 2023. tab, graf
Artículo en Inglés | LILACS-Express | LILACS | ID: biblio-1439923

RESUMEN

Abstract Objective: To explore the changes and clinical significance of serum Neuron-Specific Enolase (NSE) and Squamous Cell Carcinoma antigen (SCC) in patients with lung cancer before and after radiotherapy. Methods: 82 patients with lung cancer were treated with radiotherapy, and effective clinical intervention was given during the radiotherapy process. The patients were followed up for 1 year after radiotherapy and were divided into a recurrence and metastasis group (n = 28) and a non-recurrence and metastasis group (n = 54) according to their prognosis. Another 54 healthy volunteers examined in the present study's hospital during the same period were selected as the control group. To compare the changes of NSE and SCC levels in serum in patients with lung cancer at admission and after radiotherapy, and to explore their clinical significance. Results: After intervention, NSE and SCC levels in the serum of the two groups of patients were significantly lower than those before intervention, and the levels of CD4+ and CD4+/CD8+ were significantly higher than those before intervention (p < 0.05); the level of CD8+ was not significantly different from that before intervention (p > 0.05). And NSE and SCC levels in the intervention group were significantly lower than those in the routine group, the levels of CD4+, CD4+/CD8+ were significantly higher than those in the routine group (p < 0.05). Conclusion: NSE and SCC in serum can preliminarily evaluate the effect of radiotherapy in patients with lung cancer and have a certain predictive effect on prognosis.

14.
J Ethnobiol Ethnomed ; 18(1): 68, 2022 Nov 18.
Artículo en Inglés | MEDLINE | ID: mdl-36401266

RESUMEN

BACKGROUND: Traditional mycological knowledge (TMK) is complex, not distributed equally among the entire population, and constantly adapting to current social situations. There are sociocultural factors that could influence the fact that some people retain a greater wealth of knowledge, for instance, cultural affiliation, migration, occupation, level of schooling, and person's age. METHODS: We analyze the distribution of the TMK based on sociocultural variables and 12 indicators to quantify the TMK based on a literature review. We chose two sites where there was a Wixarika and Mestizo population with records of use and consumption of wild mushrooms. In each site, 150 semi-structured interviews were conducted. The format of the semi-structured interviews was made up of sociocultural questions plus 12 questions corresponding to each of the indicators. With the data obtained, we performed linear regression tests and principal components analysis (PCA); furthermore, the significance of the groupings obtained by PCA was tested with a discriminant function analysis. RESULTS: We find that TMK was determined by the cultural group to which a person belongs. Contrary to what was expected, age and formal schooling did not influence people's level of knowledge. Likewise, migration and occupation were not determining factors either, although in some specific cases they did influence the differences in knowledge about mushrooms between people. The indicators that most helped to differentiate between the Wixarika people, and the Mestizos were knowledge of the nutritional contribution, propagation methods, and knowledge about toxic mushrooms. CONCLUSIONS: In general, sociocultural differences did not affect the transmission of the TMK due to the valorization of this knowledge among the young generations and the maintenance of the use of wild resources. Specifically, the Wixaritari had and preserved a greater TMK thanks to their pride in their cultural identity, which had allowed them to adapt to modernity while preserving their traditions and knowledge. On the other hand, the Mestizos increasingly disused wild resources due to urbanization. The indicators proposed here provided a good tool to quantify TMK; however, to replicate the study in other sites it is necessary to adapt the indicators to the context of the place.


Asunto(s)
Agaricales , Conocimiento , Humanos , México , Escolaridad , Ocupaciones
15.
Cells ; 11(21)2022 11 03.
Artículo en Inglés | MEDLINE | ID: mdl-36359881

RESUMEN

Viroids are single-stranded, circular RNA molecules (234-406 nt) that infect a wide range of crop species and cause economic losses in agriculture worldwide. They are characterized by the existence of a population of sequence variants, attributed to the low fidelity of RNA polymerases involved in their transcription, resulting in high mutation rates. Therefore, these biological entities exist as quasispecies. This feature allows them to replicate within a wide range of host plants, both monocots and dicots. Viroid hosts include economically important crops such as tomato, citrus, and fruit trees such as peach and avocado. Given the high risk of introducing viroids to viroid disease-free countries, these pathogens have been quarantined globally. As discussed herein, Mexico represents a geographical landscape of viroids linked to their origin and comprises considerable biodiversity. The biological features of viroid species endemic to Mexico are highlighted in this communication. In addition, we report the phylogenetic relationships among viroid and viroid strains, their economic impact, geographical distribution, and epidemiological features, including a broad host range and possible long-distance, seed, or insect-mediated transmission. In summary, this review could be helpful for a better understanding of the biology of viroid diseases and future programs on control of movement and spread to avoid economic losses in agricultural industries.


Asunto(s)
Citrus , Solanum lycopersicum , Viroides , Viroides/genética , Filogenia , México/epidemiología
16.
Int J Mol Sci ; 23(19)2022 Sep 30.
Artículo en Inglés | MEDLINE | ID: mdl-36232851

RESUMEN

Lynch syndrome (LS) is the main hereditary colorectal cancer syndrome. There have been few reports regarding the clinical and molecular characteristics of LS patients in Latin America; this is particularly true in the Mexican population, where no information is available. The present study aims to describe the clinical and molecular spectrum of variants in a cohort of patients diagnosed with LS in Mexico. We present a retrospective analysis of 412 patients with suspected LS, whose main site of cancer diagnosis was the colon (58.25%), followed by the endometrium (18.93%). Next-generation sequencing analysis, with an extensive multigene panel, showed that 27.1% (112/414) had a variant in one of the genes of the mismatch repair pathway (MMR); 30.4% (126/414) had a variant in non-MMR genes such as CHEK2, APC, MUTYH, BRCA1, and BRCA2; and 42.5% (176/414) had no genetic variants. Most of the variants were found in MLH1. Pathogenic variants (PVs) in MMR genes were identified in 65.7% (96/146) of the total PVs, and 34.24% (45/146) were in non-MMR genes. Molecular and clinical characterization of patients with LS in specific populations allowed personalized follow-up, with the option for targeted treatment with immune checkpoint inhibitors and the development of public health policies. Moreover, such characterization allows for family cascade testing and consequent prevention strategies.


Asunto(s)
Neoplasias Colorrectales Hereditarias sin Poliposis , Neoplasias Colorrectales Hereditarias sin Poliposis/diagnóstico , Neoplasias Colorrectales Hereditarias sin Poliposis/epidemiología , Neoplasias Colorrectales Hereditarias sin Poliposis/genética , Reparación de la Incompatibilidad de ADN/genética , Proteínas de Unión al ADN/genética , Femenino , Mutación de Línea Germinal , Humanos , Inhibidores de Puntos de Control Inmunológico , México/epidemiología , Proteína 2 Homóloga a MutS/genética , Estudios Retrospectivos
17.
Kinesiologia ; 41(3): 295-299, 20220915.
Artículo en Español, Inglés | LILACS-Express | LILACS | ID: biblio-1552415

RESUMEN

Introducción. La prueba de significancia de la hipótesis nula (PSHN) constituye la herramienta más usada para evaluar hipótesis científicas y tomar decisiones al respecto, en especial en ciencias de la salud. Sin embargo, por décadas ha estado en el centro del debate, ya que se han identificado varios problemas conceptuales y de interpretación. Se realizó una revisión de artículos científicos que ilustran las críticas de esta controversia y su relevancia en el ámbito de la investigación en salud. Algunas alternativas para la PSHN son una adecuada interpretación del valor p, uso de intervalos de confianza, incluir el tamaño del efecto y adoptar un marco de inferencia bayesiana. En todos los casos en que se utilice PSHN, su uso debe ser claramente justificado.


Background. Null hypothesis significance testing (NSHT) constitutes the most widely applied tool for the evaluation of scientific hypotheses and decision making in health sciences. However, the method has been the centre of a heated debate where various criticisms related to conceptual and interpretational problems. A review of scientific articles that illustrate the criticisms of this controversy and its relevance in the field of health research was carried out. Some alternatives for the NSHT are an adequate interpretation of the p-value, use of confidence intervals, including the effect size and adopting a Bayesian inference framework. In all cases where NSHT is used, its use should be clearly justified.

18.
BMC Nephrol ; 23(1): 278, 2022 08 09.
Artículo en Inglés | MEDLINE | ID: mdl-35945525

RESUMEN

BACKGROUND: Monoclonal gammopathy of renal significance (MGRS) encompasses a heterogeneous group of kidney diseases in which a monoclonal immunoglobulin secreted by a clone of B cells or plasma cells causes kidney damage without meeting the hematological criteria for malignancy. Among the various forms of involvement, MGRS can manifest as a proximal tubule disorder, such as Fanconi syndrome (FS), characterized by urinary loss of phosphate, glucose, amino acids, uric acid and bicarbonate. Few cases of MGRS have been described in the literature, manifesting as FS and monoclonal production of lambda light chains, almost all of which are secondary to the production of kappa light chains. CASE PRESENTATION: Here we report a clinical case of a 45-year-old Brazilian male, African descent, with proximal weakness of the lower limbs, whose initial assessment showed a urine summary with the presence of proteinuria and glycosuria without hyperglycemia, associated with mild worsening of renal function, hypouricemia, hypocalcemia and phosphaturia. Evolution was characterized by a MGRS manifesting as FS and osteomalacia. CONCLUSION: The diagnosis of MGRS is not always easy, it requires knowledge of the clinical characteristics, diagnostic criteria and prognosis of each case. Therefore, all possible efforts should be made for multidisciplinary diagnosis.


Asunto(s)
Síndrome de Fanconi , Enfermedades Renales , Gammopatía Monoclonal de Relevancia Indeterminada , Osteomalacia , Paraproteinemias , Síndrome de Fanconi/complicaciones , Síndrome de Fanconi/diagnóstico , Humanos , Cadenas lambda de Inmunoglobulina , Riñón/patología , Riñón/fisiología , Enfermedades Renales/patología , Masculino , Persona de Mediana Edad , Gammopatía Monoclonal de Relevancia Indeterminada/complicaciones , Osteomalacia/complicaciones , Osteomalacia/etiología , Paraproteinemias/complicaciones , Paraproteinemias/diagnóstico , Paraproteinemias/patología
19.
Autops Case Rep ; 12: e2021393, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-35935173

RESUMEN

Co-occurrence of myelodysplastic syndrome (MDS) and plasma cell neoplasm in patients with no history of chemo and/or radiotherapy is rarely reported. Herein, we report a case of a female in her seventieth decade of life who was referred to the hospital for pancytopenia. The patient was asymptomatic and was doing well overall. Serum protein electrophoresis was remarkable for a lambda-restricted monoclonal protein (IgG) estimated at 1.8g/dL. Immunoglobulin G serum level was also elevated, and serum Kappa/Lambda free light chain ratio was decreased. At that time, a bone marrow biopsy showed myelodysplastic syndrome with excess blasts-2 (MDS-EB2) and a monoclonal plasma cell proliferation. Some studies have shown that patients with plasma cell neoplasm could be associated with an increased risk of developing MDS compared to the general population. Based on reviewing the literature, to our knowledge, the pathological mechanism of the co-occurrence of both diseases is not yet clear.

20.
Int. j. morphol ; 40(3): 851-854, jun. 2022. ilus
Artículo en Inglés | LILACS | ID: biblio-1385663

RESUMEN

SUMMARY: The plantaris muscle is located between the soleus and gastrocnemius muscles, within the posterior calf group. Due to degeneration and its loss of plantar-flexion function, the muscle is vestigial in human beings, but it retains clinical significance. Few cases of variation in the plantaris muscle have been reported, and this, therefore, appears to be rare. Nonetheless, absence of this muscle was identified via the dissection of a left lower limb (male), which also indicated the absence of an attachment in the usual position. The present report, which addresses such variation, may provide both inspiration and reference points for the clinical treatment of so-called "tennis leg", and for the use of plantaris muscle for the purposes of clinical, autologous graft repair.


RESUMEN: El músculo plantar se ubica entre los músculos sóleo y gastrocnemio, dentro del grupo posterior de la pierna. Debido a la degeneración y la pérdida de la función de flexión plantar, el músculo es un vestigio en los seres humanos, pero conserva su importancia clínica. Se han informado pocos casos de variación en el músculo plantar y, por lo tanto, esto parece ser raro. No obstante, se observó la ausencia de este músculo durante la disección de un miembro inferior izquierdo (masculino). El presente informe, que aborda dicha variación, puede proporcionar puntos de referencia para el tratamiento clínico de la llamada "pierna de tenista" y para el uso del músculo plantar con fines de reparación clínica con injerto autólogo.


Asunto(s)
Humanos , Masculino , Adulto , Músculo Esquelético/anatomía & histología , Variación Anatómica
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