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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.
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Neoplasias da Mama , Predisposição Genética para Doença , Genótipo , Polimorfismo de Nucleotídeo Único , Fator A de Crescimento do Endotélio Vascular , Humanos , Feminino , Neoplasias da Mama/genética , México/epidemiologia , Pessoa de Meia-Idade , Fator A de Crescimento do Endotélio Vascular/genética , Adulto , Fatores de Risco , Alelos , Estudos de Casos e Controles , Frequência do Gene , IdosoRESUMO
Background: Open reduction and internal fixation with plate is one of the most widely used treatments for distal third humeral shaft fractures. The purpose of this study was to report the outcomes of the treatment of distal third humeral shaft fractures with posterior minimally invasive plate osteosynthesis (MIPO) with segmental isolation of the radial nerve. Methods: We performed an observational, retrospective, consecutive, monocentric, continuous multioperator study. We reviewed 22 distal third humeral shaft fractures treated with posterior MIPO in our institution with an extra-articular distal humerus plate from 2018 to 2021. Inclusion was limited to functionally independent patients with displaced fractures involving the junction of the middle and distal thirds of the humerus and minimum 12-month follow-up for implant removal. We assessed clinical outcomes including range of motion; QuickDASH score; Mayo Elbow Performance Score; and Constant-Murley score. Results: The average follow-up period of the sample was 31.7 ± 11.6 months (range, 15.7-51.3 months). The average elbow flexion and extension were 146.4° ± 7.3° (range, 120°-150°) and -0.7° ± 3.3° (range, -15° to 0°), respectively. The average shoulder anterior flexion, elevation, and abduction were 178.6° ± 3.6° (range, 170°-180°), 179.1° ± 2.9° (range, 170°-180°), and 140.9° ± 14.8° (range, 110°-160°), respectively. The average external rotation was 88.6° ± 6.4 (range, 65°-90°). The mean visual analog scale score for pain was 1.0 ± 1.6 (range, 0-5) and the mean Mayo Elbow Performance Score was 90.5 ± 9.9 (range, 70-100). The mean QuickDASH and Constant-Murley scores were 4.7 ± 6.8 (range, 0-20.5) and 95.5 ± 5.1 (range, 81-100), respectively. Two patients presented with relevant compromise of radial nerve motor function postoperatively (M3 and M2; the more compromised was preoperative injury). All patients recovered radial nerve neuropraxia within six weeks postoperatively. All fractures achieved union. The average anteroposterior and lateral axis were 175.0 ± 3.6 (168.0°-180.0°) and 177.5 ± 2.0 (173.0°-180.0°), respectively. No superficial or deep infection was reported. No cases of re-displacement of fracture, implant failure, or any other implant-related complication in follow-up were reported. No patient required plate withdrawal. Conclusion: The results of this study demonstrate that the posterior MIPO technique is a reliable option for treating distal third shaft humeral fractures. The radial nerve must be identified and protected in all cases to prevent palsy.
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Japanese plum fruits are rich in phenolic compounds, such as anthocyanins and flavan-3-ols, whose contents vary significantly among cultivars. Catechin (C) and epicatechin (EC) are flavan-3-ol monomers described in the fruits of this species and are associated with bitterness, astringency, antioxidant capacity, and susceptibility to enzymatic mesocarp browning. In this study, we aimed to identify quantitative trait loci (QTL) associated with the content of flavan-3-ol in Japanese plum fruits. We evaluated the content of C and EC in the mesocarp and exocarp of samples from 79 and 64 seedlings of an F1 progeny (<'98-99' × 'Angeleno'>) in the first and second seasons, respectively. We also constructed improved versions of linkage maps from '98-99' and 'Angeleno,' presently called single-nucleotide polymorphisms (SNPs) after mapping the already available GBS reads to Prunus salicina Lindl. cv. 'Sanyueli' v2.0 reference genome. These data allowed for describing a cluster of QTLs in the cultivar, 'Angeleno,' associated with the flavan-3-ol composition of mesocarp and exocarp, which explain up to 100% of the C/EC ratio. Additionally, we developed a C/EC metabolic marker, which was mapped between the markers with the highest log of odds (LOD) scores detected by the QTL analysis. The C/EC locus was located in the LG1, at an interval spanning 0.70 cM at 108.30-108.90 cM. Our results suggest the presence of a novel major gene controlling the preferential synthesis of C or EC in the Japanese plum fruits. This study is a significant advance in understanding the regulation of synthesizing compounds associated with fruit quality, postharvest, and human health promotion.
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Consumption of fresh fruit is known to protect against non-communicable diseases due to the fruit's content in compounds with an antioxidant capacity, among them is polyphenols. Asian plums (Prunus salicina L.) accumulate more than 40 phenolic compounds, with a remarkable diversity in their profiles, depending on the variety and environmental conditions. Although candidate genes have been indicated to control this trait, the loci controlling its phenotypic variation have not yet been defined in this species. The aim of this work was to identify the quantitative trait Loci (QTL) controlling the phenolic compounds content in the Asian plum skin and flesh. Using UHPLC-DAD-Orbitrap-MS, we determined that cyanidin-3-glucoside and cyanidin-3-rutinoside are the main anthocyanins in Asian plums. Other anthocyanins found to a lesser extent were tentatively identified as cyanidin bound to different sugar and procyanidin moieties. Then we phenotyped fruits of 92 and 80 F1 seedlings from the cross < "98.99" × "Angeleno"> (98 Ang) for two harvest seasons. We used HPLC-DAD to quantify single anthocyanin and spectrophotometric techniques to determine the total content of phenols, flavonoids, procyanidins, and antioxidant activity (DPPH and FRAP). To determine the phenotype-genotype association of phenolic compounds content, phenotypic values (adjusted by linear mixed-effects models), genotypic data and linkage maps were analyzed with the multiple QTL model (MQM) approach. We found a total of 21 significant trait-marker associations: 13 QTLs segregating from "98.99" and 8 QTLs from "Angeleno." From these associations, 8 corresponded to phenolic compound content in the flesh and 13 in the skin. Phenotype variance was explained by the detected loci, ranging from 12.4 to 27.1%. The identified loci are related to the content of cyanidin-3-glucoside (LG4), cyanidin-3-rutinoside (LG4), total flavonoids and procyanidins (LG5 and LG8), and minor anthocyanin compounds (LG3 and LG4). These results will help improve the efficiency of breeding programs for the generation of Asian plum varieties with high phenolic compound content.
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La hemorragia obstétrica representa un desafío para el equipo médico, aportando con importante morbilidad y mortalidad a las pacientes embarazadas.El manejo adecuado, precoz y expedito beneficia el logro de resultados favorables para la madre e hijo; es por esto que debemos reconocer activamente aquellas pacientes en riesgo de presentar un sangrado obstétrico significativo.Presentamos el primer caso reportado en Chile de una paciente embarazada con mala inserción placentaria, sometida a cesárea y decómo se realizó el manejo del sangrado intraoperatorio, con énfasis en el uso de Cell Saver como técnica ahorradora de sangre.(AU)
Obstetric hemorrhage is a challenge for the medical team, contributing with significant morbidity and mortality to the pregnant patient.An appropriate, early, and expeditious management eases the achievement of favourable results for mother and son. We must recognizeactively those patients at risk of a significant obstetric bleeding.We present the first case report in Chile of a pregnant patient with abnormal placentation, undergoing a caesarean section and howbleeding was handled during the surgery, with emphasis on the use of a Cell Saver device as a blood-saving technique.(AU)
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Humanos , Feminino , Gravidez , Cesárea , Hemorragia , Placenta Acreta , Transfusão de Sangue , Chile , ObstetríciaRESUMO
Native biodiversity on the Galapagos Archipelago is severely threatened by invasive alien species. On Santa Cruz Island, the abundance of introduced plant species is low in the arid lowlands of the Galapagos National Park, but increases with elevation into unprotected humid highlands. Two common alien plant species, guava (Psidium guajava) and passion fruit (Passiflora edulis) occur at higher elevations yet their seeds are dispersed into the lowlands by migrating Galapagos tortoises (Chelonoidis spp.). Tortoises transport large quantities of seeds over long distances into environments in which they have little or no chance of germination and survival under current climate conditions. However, climate change is projected to modify environmental conditions on Galapagos with unknown consequences for the distribution of native and introduced biodiversity. We quantified seed dispersal of guava and passion fruit in tortoise dung piles and the distribution of adult plants along two elevation gradients on Santa Cruz to assess current levels of 'wasted' seed dispersal. We computed species distribution models for both taxa under current and predicted future climate conditions. Assuming that tortoise migratory behaviour continues, current levels of "wasted" seed dispersal in lowlands were projected to decline dramatically in the future for guava but not for passion fruit. Tortoises will facilitate rapid range expansion for guava into lowland areas within the Galapagos National Park where this species is currently absent. Coupled with putative reduction in arid habitat for native species caused by climate change, tortoise driven guava invasion will pose a serious threat to local plant communities.
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Mudança Climática , Dispersão Vegetal , Tartarugas/fisiologia , Animais , Biodiversidade , Ecossistema , Equador , Espécies em Perigo de Extinção , Espécies Introduzidas , Passiflora/fisiologia , Psidium/fisiologiaRESUMO
Resumen Objetivo: Reportar la supervivencia global, libre de evento, la respuesta histológica a quimioterapia neoadyuvante y los resultados de la cirugía de preservación de la extremidad en pacientes con osteosarcoma convencional tratados sin altas dosis de metotrexato en el Instituto Nacional de Cancerología de Colombia. Pacientes y métodos: una cohorte de pacientes menores de 21 años de edad con diagnóstico de osteosarcoma convencional, con o sin metástasis, fueron tratados con quimioterapia preoperatoria por doce semanas; seguidos de cirugía de control local en la semana 15 y tres ciclos de quimioterapia posoperatoria. En el tratamiento se administraron cuatro medicamentos (ifosfamida, doxorrubicina, cisplatino y etopósido) y no se incluyó el uso de metotrexato. La supervivencia global y libre de evento fue calculada por el método de Kaplan-Meier. Se realizó análisis multivariable para predictores de supervivencia mediante el modelo de riesgos proporcionales de Cox. Los análisis estadísticos se realizaron para α 0,05. Resultados: Entre enero de 1997 y diciembre de 2007 ingresaron 122 pacientes con osteosarcoma convencional, para una mediana de seguimiento de 25,4 meses (rango 1,13 a 169). La edad promedio fue 13,7 años (DE: 2,9) y de los procedimientos quirúrgicos la cirugía de salvamento correspondió al 52% y la cirugía ablativa al 38%. La supervivencia global y libre de evento fue mayor en los buenos respondedores a quimioterapia que en malos respondedores (HR = 4,33; IC 95% 1,77-10,58)) y (HR = 2,90; IC 95% 1,60-5,27). La supervivencia global y libre de evento fue diferente entre los pacientes con y sin metástasis al diagnóstico (HR = 2,13; IC 95% 0,97-4,72) y(HR = 2,07; (IC 95% 1,10 - 3,90). Conclusión: El osteosarcoma puede ser tratado con quimioterapia sin altas dosis de metotrexato logrando supervivencia moderadamente efectiva y comparable con la de países desarrollados.
Abstract Objective: To report event-free overall survival rates and histological response results for neoadjuvant chemotherapy and limb-salvage surgery in conventional osteosarcoma patients treated without high methotrexate doses in the National Cancer Institute of Colombia. Patients and Methods: A cohort of under 21-year old patients diagnosed with conventional osteosarcoma, with or without metastasis, underwent preoperative chemotherapy for twelve weeks, followed by local control surgery in week 15, and three postoperative chemotherapy cycles. Treatment did not include methotrexate. Four drugs were administered: ifosfamide, doxorubicin, cisplatin, and etoposide. The Kaplan-Meier method was used to calculate overall survival and event-free rates. A multivariate analysis of survival predictors was carried out with the Cox proportional hazards method. Statistical analysis was based on an α of 0.05. Results: From January 1997 to December 2007, a total of l22 conventional osteosarcoma patients received treatment, with a median follow-up of 24.4 months (range 1.13 to 169). The mean patient age was 13.7 years (SD ±2.9 yrs). Limb-salvage surgery was performed in 52% and ablative surgery in 38%. Overall survival and event-free rates were higher in the good responders to chemotherapy than in the poor responders: (HR = 4.33; 95% CI; 1.77-10.58) and (HR = 2.90; 95% CI; 1.60-5.27. The overall survival and event-free rates were different between patients with and without metastasis at diagnosis: (HR = 2.13; 95% CI; 0.97-4.72) and (HR = 2.07; (95% CI; 1.10-3.90. Conclusion: Osteosarcoma can be treated with chemotherapy without high methotrexate doses to achieve moderately effective survival rates comparable with those in developed countries.
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Humanos , Recém-Nascido , Lactente , Pré-Escolar , Criança , Adolescente , Osteossarcoma , Metotrexato , Colômbia , Tratamento Farmacológico , Sobrevivência , Terapêutica , Preparações Farmacêuticas , Taxa de SobrevidaRESUMO
In this work we present a system to identify and extract patient's smoking status from clinical narrative text in Spanish. The clinical narrative text was processed using natural language processing techniques, and annotated by four people with a biomedical background. The dataset used for classification had 2,465 documents, each one annotated with one of the four smoking status categories. We used two feature representations: single word token and bigrams. The classification problem was divided in two levels. First recognizing between smoker (S) and non-smoker (NS); second recognizing between current smoker (CS) and past smoker (PS). For each feature representation and classification level, we used two classifiers: Support Vector Machines (SVM) and Bayesian Networks (BN). We split our dataset as follows: a training set containing 66% of the available documents that was used to build classifiers and a test set containing the remaining 34% of the documents that was used to test and evaluate the model. Our results show that SVM together with the bigram representation performed better in both classification levels. For S vs NS classification level performance measures were: ACC=85%, Precision=85%, and Recall=90%. For CS vs PS classification level performance measures were: ACC=87%, Precision=91%, and Recall=94%.
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Bases de Dados Factuais , Registros Eletrônicos de Saúde/classificação , Processamento de Linguagem Natural , Fumar , Teorema de Bayes , Chile , Humanos , Narração , Máquina de Vetores de SuporteRESUMO
Hydatidosis is an endemic zoonosis in Chile. We report a 48-year-old former slaughterman, with a previous history of pulmonary hydatidosis, who presented a stroke without associated cardiovascular symptoms. An echocardiogram revealed a tumor mass with cystic features in the left ventricle. The patient was operated and the cyst was successfully excised. During the follow up, the patient remains asymptomatic.
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Cardiomiopatias/parasitologia , Cistos/parasitologia , Equinococose/parasitologia , Doenças Negligenciadas/parasitologia , Humanos , Espectroscopia de Ressonância Magnética , Masculino , Pessoa de Meia-IdadeRESUMO
UNLABELLED: Chitosan is a D-glucosamine polysaccharide derived from chitin that displays an antimicrobial activity against bacteria and fungi. OBJECTIVE: to evaluate the antifungal effect of high molecular weight chitosan (HMWC) in clinical strains of Candida spp. METHODOLOGY: the susceptibility of forty strains of Candida spp. to HMWC was studied (16 C albicans, 11 C glabrata, 5 C. tropicalis, 5 C krusei, 2 C parapsilosis and 2 C. famata) by broth microdilution at pH 7.0 and pH 4.0. RESULTS: of 40 strains, only 2 were inhibited at pH 7.0 and corresponded to ATCC control strains (C. krusei 6258 and C parapsilosis 22019). On the other hand, 37/40 strains (92.5%) were inhibited by concentrations lower than 1.25 mg/mL of HMWC at pH 4.0. CONCLUSION: these results show that HMWC, presents activity against clinical Candida spp. strains, including C glabrata, and that this activity is present at acid pH (4.0). This compound could potentially be used in vulvovaginal candidiasis since it occurs at pH 4.0-4.5.
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Antifúngicos/farmacologia , Candida/efeitos dos fármacos , Quitosana/farmacologia , Antifúngicos/química , Candida/classificação , Quitosana/química , Contagem de Colônia Microbiana , Testes de Sensibilidade Microbiana/métodos , Peso MolecularRESUMO
Se revisaron los resultados obtenidos en 70 pacientes con Tumor de Células Gigantes, tratados en el Instituto Nacional de Cancerología entre 1977 y 1987, con nitrógeno líquido, previo curetaje de la cavidad tumoral. Estos resultados se valoraron fundamentalmente en relación con el control local del tumor y el porcentaje de recibida y se compararon con los resultados publicados por Marcove, quien difundió la técnica de la criocirugia en 1973, para tener una referencia con respecto a la experiencia con esta técnica en el INC
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Humanos , Masculino , Feminino , Adulto , Criocirurgia , Tumores de Células Gigantes/terapiaRESUMO
Las fracturas traumáticas intracapsulares del cuello del femúr en el adulto joven son de muy pobre pronóstico por la alta incidencia de no unión y necrosis aséptica.De otra parte, es muy escasa la bibliografía dedicada estrictamente a este tema. Se revisan los resultados de 20 pacientes entre los 15 y 42 años de edad de fracturas grado III y IV de Garden, siguiendo un protocolo de 8 años, basado en el tratamiento con muy firme osteosíntesis e injerto óseo pediculado de glúteo medio, colocado sobre la cara anterior del cuello del femúr, en el foco, no permitiendo el apoyo del peso del cuerpo hasta lograr conolidación muy firme, radiológica y clínicamente. Se estudia la correlación de la necrosis y la consolidación de la fractura y la razón del fracaso en 3 de los 20 pacientes. Se obtuvo consolidación en 17, y en 2 de éstas con fractura ipsilateral de diáfisis de femúr asociada