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Deregulation of small non-coding RNAs (sncRNAs) has been associated with the onset of metastasis. We evaluated the expression of sncRNAs in patients with early-stage breast cancer, performing RNA sequencing in 60 patients for whom tumor and sentinel lymph node (SLN) samples were available, and conducting differential expression, gene ontology, enrichment and survival analyses. Sequencing annotation classified most of the sncRNAs into small nucleolar RNA (snoRNAs, 70%) and small nuclear RNA (snRNA, 13%). Our results showed no significant differences in sncRNA expression between tumor or SLNs obtained from the same patient. Differential expression analysis showed down-regulation (n = 21) sncRNAs and up-regulation (n = 2) sncRNAs in patients with locoregional metastasis. The expression of SNHG5, SNORD90, SCARNA2 and SNORD78 differentiated luminal A from luminal B tumors, whereas SNORD124 up-regulation was associated with luminal B HER2+ tumors. Discriminating analysis and receiver-operating curve analysis revealed a signature of six snoRNAs (SNORD93, SNORA16A, SNORD113-6, SNORA7A, SNORA57 and SNORA18A) that distinguished patients with locoregional metastasis and predicted patient outcome. Gene ontology and Reactome pathway analysis showed an enrichment of biological processes associated with translation initiation, protein targeting to specific cell locations, and positive regulation of Wnt and NOTCH signaling pathways, commonly involved in the promotion of metastases. Our results point to the potential of several sncRNAs as surrogate markers of lymph node metastases and patient outcome in early-stage breast cancer patients. Further preclinical and clinical studies are required to understand the biological significance of the most significant sncRNAs and to validate our results in a larger cohort of patients.
Asunto(s)
Neoplasias de la Mama , ARN Pequeño no Traducido , Humanos , Femenino , Neoplasias de la Mama/genética , ARN Pequeño no Traducido/genética , Genes Reguladores , Metástasis Linfática/genética , ARN Nucleolar Pequeño/genéticaAsunto(s)
Implantes de Mama , Neoplasias de la Mama , Mamoplastia , Humanos , Femenino , Mastectomía , Neoplasias de la Mama/cirugía , EndoscopíaRESUMEN
BACKGROUND AND OBJECTIVE: Distant metastatic spread in breast cancer patients is a complex phenomenon involving several prognostic factors. We focused our analysis on early metastatic breast cancer (EMBC) (occurring during the first 36 months) versus late metastatic breast cancer (LMBC) (occurring beyond 3 years) in order to ascertain their possible differential predictive factors. METHODS: diagnostic, surgical, and follow-up data were assessed for consecutive patients with breast cancer undergoing surgery between 1997 and 2019. We analysed the predictive factors for distant metastasis using both univariate and multivariate analysis. RESULTS: The median follow-up for this cohort of 2708 patients was 89 months. The median metastasis-free interval (FMI) for metastasis patients was 38 months (17 months for EMBC group and 76 months for LMBC group). Distant metastases developed in 12.9% (350/2708); 48% (168/350) of them as EMBC and 52% (182/350) as LMBC. Loco-regional recurrence and nodal extracapsular extension were the only common predictors for both. CONCLUSIONS: EMBC and LMBC appeared as two separate conditions, with a different outcome. In the EMBC group, tumour proliferation related factors were significant (histological grade, tumour size, body mass index), whereas for LMBC, other slow-acting factors seemed to be involved (screening program, tumour burden, bilateral tumour).
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Neoplasias de la Mama , Neoplasias de la Mama/patología , Estudios de Cohortes , Femenino , Humanos , Metástasis de la Neoplasia , Recurrencia Local de Neoplasia/patología , Pronóstico , Estudios RetrospectivosAsunto(s)
Neoplasias de la Mama/patología , Extensión Extranodal/patología , Escisión del Ganglio Linfático/métodos , Ganglios Linfáticos/patología , Ganglio Linfático Centinela/patología , Axila , Neoplasias de la Mama/cirugía , Femenino , Humanos , Modelos Logísticos , Ganglios Linfáticos/cirugía , Pronóstico , Biopsia del Ganglio Linfático Centinela , Carga TumoralRESUMEN
Introduction. Gastrointestinal stromal tumors first treatment should be surgical resection, but when metastases are diagnosed or the tumor is unresectable, imatinib must be the first option. This treatment could induce some serious complications difficult to resolve. Case Report. We present a 47-year-old black man with a giant unresectable gastric stromal tumor under imatinib therapy who presented serious complications such as massive gastrointestinal bleeding and a gastrobronchial fistula connected with the skin, successfully treated by surgery and gastroscopy. Discussion. Complications due to imatinib therapy can result in life threatening. They represent a challenge for surgeons and digestologists; creative strategies are needed in order to resolve them.
RESUMEN
PURPOSE: This study was undertaken to evaluate the technique of artificial sphincter for fecal incontinence, with its complications and risk factors, the functional results, and which variables derived from demographic data, preoperative studies, device characteristics, technical details, perioperative findings, and complications could influence the outcome. METHODS: The Acticon Neosphincter was implanted in 53 patients (35 females), median age 46 years, with total anal incontinence not amenable to sphincter repair or after failed sphincteroplasty. In females with associated rectocele, this was synchronously corrected. Six (11 percent) patients already had a colostomy, but no proximal stoma was constructed at the time of implantation. Causes of incontinence were congenital, 13; iatrogenic, 13; obstetric, 10; neurogenic, 9; trauma, 4; idiopathic, 2; and perineal colostomy, 2. Physiologic testing before and after the operation and preoperative endosonography were done when they were available. Quality of life was assessed in 25 patients. Mean follow-up was 26.5 (range, 7-55) months. RESULTS: Perioperative events occurred in 14 (26 percent) patients: abnormal bleeding, 7; vaginal perforation, 4; rectal perforation without apparent contamination, 2; and unobserved urethral perforation, 1. Early complications were mainly related to sepsis in 8 (15 percent) patients and wound complication in 8 (15 percent). Sepsis could not be statistically associated with any of the variables studied here. Wound separation was associated with fibrosis (p = 0.003) and tension of the wound (p = 0.001). Late complications were: cuff and/or pump erosion, 9 (18 percent) patients; infection, 3 (6 percent); impaction, 11 (22 percent); pain, 4 (8 percent); and mechanical failures, 2 (4 percent). None of those complications showed a statistical association with any of the variable studied here. There were 10 (19 percent) definitive explants caused by septic or skin complications. Only 26 (60 percent) of 43 patients with the device in action use the pump (patients' decision). Normal continence was achieved in 65 percent of patients and continence to solid stool in 98 percent. The Cleveland Clinic score of incontinence (0-20, maximal incontinence) changed from 17 +/- 3 preoperatively to 4 +/- 3 postoperatively (p = 0.000). An early complication of the perianal wound influenced the functional results: postimplant score > 4 < or = 4 (p = 0.009). Resting and squeeze pressures changed significantly after activation (p = 0.000). Quality of life measured in four subscales changed significantly in all the subscales (p = 0.000). CONCLUSIONS: The artificial anal sphincter restores continence to solid stool in almost all severely incontinent patients, two-thirds of whom achieve practically normal continence. Quality of life improves significantly. Infection and skin erosion are the cause of the majority of explants. No predictable factors of functional success could be found in this study.
Asunto(s)
Canal Anal/cirugía , Incontinencia Fecal/cirugía , Prótesis e Implantes , Implantación de Prótesis , Adolescente , Adulto , Anciano , Canal Anal/fisiopatología , Incontinencia Fecal/fisiopatología , Femenino , Humanos , Masculino , Manometría , Persona de Mediana Edad , Complicaciones Posoperatorias , Calidad de Vida , Estudios Retrospectivos , Estadísticas no Paramétricas , Resultado del TratamientoRESUMEN
Introducción. La hernia obturatriz es una rara entidad, con frecuente ausencia de signos y síntomas específicos que retrasa su diagnóstico y tratamiento 1,4; por ello, presenta una elevada tasa de estrangulación herniaria. Objetivo. Presentamos nuestra experiencia en el manejo de esta enfermedad. Pacientes y métodos. Revisamos 12 casos de hernia obturatriz, en 11 pacientes intervenidos entre el año 1986 y 2001. Se analizan los siguientes parámetros: epidemiología, clínica, métodos diagnósticos, tratamiento y evolución. Resultados. Todos los pacientes eran mujeres con una edad media de 73 años (rango, 19-88). Una de ellas había presentado una recidiva herniaria a los 13 años de la reparación inicial. La manifestación clínica más frecuente fue, la de dolor y distensión abdominal, vómitos y estreñimiento. La exploración física y la radiología simple eran compatibles con una obstrucción intestinal en 11 casos (91,6 por ciento). Sólo en 2 pacientes la exploración rectal reveló la presencia de una tumoración en el orificio obturador; se les practicó una ecografía abdominopélvica que fue diagnóstica en el 50 por ciento de los casos. El diagnóstico preoperatorio fue de obstrucción intestinal de origen desconocido en 8 casos (66,6 por ciento), obstrucción intestinal por hernia obturatriz complicada en 2 ocasiones (16,6 por ciento), obstrucción intestinal por hernia inguinal incarcerada en un paciente (8,3 por ciento) y hernia inguinal recidivada en otro caso (8,3 por ciento). Se realizaron 11 intervenciones con carácter urgente (91,6 por ciento) y una de forma electiva (8,3 por ciento). La tasa de estrangulación herniaria fue del 50 por ciento. En todos los casos el contenido herniario fue del intestino delgado. Se observó un ligero predominio de herniaciones en el lado derecho (8 casos; 66,6 por ciento). En 4 ocasiones se reparó el defecto heniario con una malla de polipropileno (33,3 por ciento), siendo con cierre simple y aposición del peritoneo en los restantes 8 casos. Un total de 7 pacientes precisó resección intestinal (58,3 por ciento). Nuestro índice de mortalidad se situó en el 16,6 por ciento (2 pacientes), la demora media en el diagnóstico fue de 3,6 días (rango, 0-10) y la estancia media hospitalaria de, 14,5 días (rango, 6-26). Conclusión. Son esenciales el diagnóstico y tratamiento precoz en el manejo de esta enfermedad1,5. (AU)