RESUMEN

Soft tissue sarcomas harboring EWSR1::CREM fusion are rare and challenging to treat. Pazopanib, a multi-tyrosine kinase inhibitor, is FDA-approved for advanced soft tissue sarcomas, but predictive biomarkers for its efficacy remain unidentified. We conducted a study on > 240,000 neoplasms submitted to Caris Life Sciences (Phoenix, AZ) to detect rearrangements using whole transcriptome sequencing. Two sarcoma-experienced, board-certified pathologists performed histological reviews, and treatment/outcome information was collected. Among the identified cases (n = 18), we observed a diverse range of sarcoma and other cancers, including an intracranial myxoid mesenchymal tumor, mesothelioma, hyalinizing clear cell carcinomas of the head and neck, clear cell sarcomas, and undifferentiated round cell sarcomas, as well as histologically malignant tumors with epithelioid morphology. Notably, two undifferentiated, metastatic, abdominal round cell sarcoma cases treated with pazopanib demonstrated significant sustained partial response and clinical benefit. To explore the genetic factors associated with the efficacy of pazopanib in these cases, next-generation sequencing and fluorescence in situ hybridization were analyzed for alterations in the tumors. The genomic analysis provided compelling evidence confirming the presence of EWSR1::CREM fusion in both cases, with no other pathogenic gene variants or copy number alterations detected. These cases demonstrate the potential of Pazopanib as a promising therapeutic option for patients with EWSR1::CREM fusion-positive soft tissue sarcomas, including metastatic undifferentiated round cell sarcomas. The sustained clinical benefit and partial responses observed in these cases warrant further research to validate these findings and explore the wider utility of Pazopanib in this rare and challenging subset of soft tissue sarcomas. Case studies: Case 1: A 49-year-old man presented with abdominal pain, weight loss, and chronic cough. A computed tomography (CT) of the chest, abdomen, and pelvis showed multiple lung nodules and masses and a right rectus mass that was biopsied and revealed an undifferentiated round cell sarcoma with a rare fusion EWSR1-CREM. No additional pathogenic gene variants or copy number alterations were detected. He received neoadjuvant chemotherapy with three cycles of Vincristine, Adriamycin, and Ifosfamide (VAI) and seven cycles of Vincristine/Irinotecan and Temodar (VIT). After cycle 7 of VIT, he had surgical resection of the abdominal mass and received radiation for lung metastasis. He completed 13 cycles of VIT after which he presented with progression of disease and switched to monotherapy with Pazopanib. At the time of this analysis he had stable disease for 28 months. Case 2: A 75-year-old woman presented with pelvic pain and new onset constipation. CT abdomen showed a large pelvic mass and intraperitoneal tumor spread. Exploratory laparotomy revealed a ruptured pelvic mass and a small bowel tumor. Both tumors were proved to be high-grade, poorly differentiated sarcoma. Genomic analysis demonstrated an EWSR1::CREM fusion but no other pathogenic gene variants or copy number alterations. She was treated initially for a primitive neuroectodermal tumor (PNET) with four cycles of Vincristine/Adriamycin/Cytoxan/Olaratumab but declined additional chemotherapy after progression. Two years later, she presented with recurrent abdominal mass and received one cycle of Temodar/Irinotecan, then she began Pozapanib and underwent palliative radiation to the entire pelvis. She has been on Pazopanib for 23 months with stable disease.

RESUMEN

Total knee arthroplasty (TKA) is one of the most frequent orthopaedic surgeries. The purpose of this study was to determine the 30-day postoperative mortality rate, total episode-of-care costs, and prognostic factors associated with these outcomes, for adult patients who underwent TKA in Colombia's contributory health care system. A retrospective cohort study of all adult patients enrolled in Colombia's contributory health system, who underwent TKA between January 1, 2012 and November 30, 2015 was performed. Thirty-day postoperative mortality rates, 30-day ICU admissions rates, 30-day hospital readmission rates, 1-year arthroplasty revision rates, and total episode-of-care costs were estimated. Multilevel, generalized linear models were generated, to determine the prognostic factors associated with outcomes presented. A total of 12,453 patients were included. The 30-day mortality rate was 0.13 per 100 surgeries and the ICU admissions rate at 30 days postoperative was 4.44 per 100 surgeries. The 30-day hospital readmission rate was 4.28 per 100 surgeries and the 1-year arthroplasty revision rate was 1.22 per 100 surgeries. The prognostic factors associated with mortality were age, Charlson Index, and type of insurer. The prognostic factors associated with hospital readmission were age category, Charlson Index, and geographic region; younger age and higher Charlson Index were found to be associated with a higher 1-year arthroplasty revision rate. The median of total episode-of-care costs was USD$ 6,190.07 (interquartile range: 2,299-7,282). The multivariate model found that age, the Charlson Index, the Atlantic region, and type of insurer were associated with the costs incurred by the health system. For patients undergoing TKA in Colombia, age, the Charlson Index, insurers, and geographic region are associated with mortality, ICU admissions, 30-day hospital readmissions, 1-year arthroplasty revisions, and total costs incurred by the health system.

Asunto(s)

RESUMEN

Teratomas are tumors of germ cell origin, and in the female genital tract are subclassified as immature or mature based on the presence or absence, respectively, of immature elements. Somatic tumors may also develop in association with teratomas, and most commonly include thyroid tumors, carcinoids and carcinomas. We report herein 2 rare forms of gynecologic teratomas: 1 case of immature teratoma of the uterus and 1 case of a benign follicular hamartoma arising in association with mature cystic teratoma of the ovary.

Asunto(s)

RESUMEN

Substantial COVID-19 research investment has been allocated to randomized clinical trials (RCTs) on hydroxychloroquine/chloroquine, which currently face recruitment challenges or early discontinuation. We aim to estimate the effects of hydroxychloroquine and chloroquine on survival in COVID-19 from all currently available RCT evidence, published and unpublished. We present a rapid meta-analysis of ongoing, completed, or discontinued RCTs on hydroxychloroquine or chloroquine treatment for any COVID-19 patients (protocol: https://osf.io/QESV4/ ). We systematically identified unpublished RCTs (ClinicalTrials.gov, WHO International Clinical Trials Registry Platform, Cochrane COVID-registry up to June 11, 2020), and published RCTs (PubMed, medRxiv and bioRxiv up to October 16, 2020). All-cause mortality has been extracted (publications/preprints) or requested from investigators and combined in random-effects meta-analyses, calculating odds ratios (ORs) with 95% confidence intervals (CIs), separately for hydroxychloroquine and chloroquine. Prespecified subgroup analyses include patient setting, diagnostic confirmation, control type, and publication status. Sixty-three trials were potentially eligible. We included 14 unpublished trials (1308 patients) and 14 publications/preprints (9011 patients). Results for hydroxychloroquine are dominated by RECOVERY and WHO SOLIDARITY, two highly pragmatic trials, which employed relatively high doses and included 4716 and 1853 patients, respectively (67% of the total sample size). The combined OR on all-cause mortality for hydroxychloroquine is 1.11 (95% CI: 1.02, 1.20; I² = 0%; 26 trials; 10,012 patients) and for chloroquine 1.77 (95%CI: 0.15, 21.13, I² = 0%; 4 trials; 307 patients). We identified no subgroup effects. We found that treatment with hydroxychloroquine is associated with increased mortality in COVID-19 patients, and there is no benefit of chloroquine. Findings have unclear generalizability to outpatients, children, pregnant women, and people with comorbidities.

Asunto(s)

RESUMEN

El objetivo del presente estudio es presentar una revisión de la literatura disponible, que permita abordar de forma ordenada la evidencia actual con respecto a la organización de un servicio de cirugía ortopédica y traumatología durante la pandemia por covid-19, el manejo de los pacientes y las medidas de protección para el personal de salud involucrado. Se realizó una búsqueda de literatura en bases de datos (PUBMED y Scielo), instituciones gubernamentales de salud y sociedades científicas. Los autores seleccionaron los artículos que consideraron pertinentes para la presente revisión. Se plantean recomendaciones para los distintos escenarios de la práctica ortopédica: consulta externa, hospitalización, cirugía (electiva y de urgencias) y urgencias; así como recomendaciones específicas para algunas subespecialidades (cirugía de columna, cirugía de mano y ortopedia pediátrica).

In this study, we review current evidence on how to organize an orthopaedic's department during the covid-19 pandemic, how to manage patients and how to protect health personnel. We executed these search in PUBMED, Scielo, government health agencies and scientific associations databases. We selected articles based on relevance. We made recommendations for different scenarios of orthopedic practice: outpatient clinic, inpatient care, surgery (elective and emergency) and emergency department. We also made recommendatios for some orthopaedic subspecialties, including spinal surgery, hand surgery and pediatric orthopaedics.

Asunto(s)

Asunto(s)

RESUMEN

AIMS: KDM1A/LSD1 and ZNF217 are involved in a protein complex that participates in transcriptional regulation. ZNF217 has been analysed in numerous cancers and its amplification has been associated with advanced stages of disease; however, a similar role for KDM1A/LSD1 has not been uncovered. In this study, we estimated the number of KDM1A/LSD1 and ZNF217 gene copies in tissue samples from patients diagnosed with colorectal cancer (CRC), as well as its association with clinicopathological features in patients with CRC. METHODS: Paraffin-embedded tumour samples from 50 patients with CRC with a histopathological diagnosis of CRC were included. The number of copies of KDM1A/LSD1 and ZNF217 genes was determined by fluorescence in situ hybridisation (FISH). We also analysed the association between copy numbers of selected genes and clinicopathological data based on multivariate analysis. RESULTS: Deletion of the KDM1A/LSD1 gene occurred in 19 samples (38%), whereas ZNF217 gene amplification was identified in 11 samples (22%). We found a significant association between lymph node metastasis or advanced tumour stage and KDM1A/LSD1 gene deletion (p value=0.0003 and p value=0.011, respectively). CONCLUSIONS: KDM1A/LSD1 gene deletion could be considered a novel prognostic biomarker of late-stage CRC.

Asunto(s)

RESUMEN

IR and Raman experiments of formamide (FA) solutions containing variable amounts of Fe(II) and Fe(III) salts were carried out. The νCO vibration is downshifted whereas the νCN mode is upshifted in the presence of the divalent ion. As the trivalent ion is added to the solvent, upshifts of both νCO and νCN vibrations are observed. These spectral patterns are related to the distinct FA forms that are stabilized by each ion. Fe(II) is surrounded by 6 ionic FA species while neutral ones coordinate to the trivalent ion with formation of [Fe(FA)3Cl](2+) and [Fe(FA)2(Cl)2](+). In higher salt compositions [FeCl4](-) is also identified in the spectra. Our vibrational results are very well corroborated by biological studies on the catalytic activity of the Fe(II)/Fe(III) pair in oxidative cleavage processes of polypeptides and proteins.

Asunto(s)

RESUMEN

Gangliocytic paragangliomas are infrequent tumors almost exclusively found in the second portion of the duodenum. An unusual case of a gangliocytic paraganglioma in the third portion of the duodenum with obstructive symptoms is herein reported. A 16-year-old male patient presented with epigastric pain, postprandial plenitude and reflux. A barium swallow failed to demonstrate abnormalities. Endoscopy showed a pedunculated submucosal tumor, originating at the third duodenal portion and causing partial obstruction. Biopsy was not performed due to the risk of bleeding. CT scan demonstrated a polypoid lesion. Through a transmesocolic approach and an anterior duodenotomy, resection of the tumor was performed. No lymph node or other organ affection was found. Histologic examination revealed a gangliocytic paraganglioma. Immunohistochemical examination was performed. Gangliocytic paragangliomas originating in the third or fourth portion of the duodenum, as in the present case, are extremely rare. Characteristic histologic features including epithelioid cells, spindle-shaped cells and ganglion-like cells were met. The majority of cases manifest with a similar benign behavior. Local resection of the tumor is recommended for these cases. An infrequent case of a gangliocytic paraganglioma located in the third portion of the duodenum, with a less common clinical presentation, is herein reported.

RESUMEN

Carcinoembryonic antigen-related cell adhesion molecule 1 (CEACAM1) is an adhesion molecule expressed in a wide variety of tissues including epithelial cells, leukocytes, and tumors that may establish both homotypic and heterotypic interactions. The aim of this work was to study the protein expression pattern of CEACAM1 in cervical cancer and precursor lesions in the context of human papillomavirus (HPV) infection. We used immunohistochemistry to analyze CEACAM1 expression in formalin-fixed, paraffin-embedded cervical tissues from 15 healthy women, 15 patients with low-grade squamous intraepithelial lesions (SIL), 15 patients with high-grade SIL, and 15 patients with squamous carcinomas. HPV types were identified by PCR. CEACAM1 was either undetectable (13/15) or low (2/15) in normal cervical tissues. By contrast, CEACAM1 expression was increased in high-grade SIL (10 samples staining intermediate/high and 4 samples staining low) as compared with low-grade SIL with undetectable (n=3) or low (n=12) expression. CEACAM1 expression was undetectable or low in cervical carcinoma. Our results suggest that CEACAM1 may be an interesting progression marker in SIL and cervical cancer, in particular due to reported immunoregulatory properties.

Asunto(s)

RESUMEN

El objetivo del presente estudio fue demostrar la aplicación de la cirugía laparoscópica en la solución quirúrgica de la patología ginecológica más frecuente. Se estudiaron 40 pacientes sometidas a procedimientos de cirugía laparoscópica divididas en cinco grupos: adherenciolisis, tratamiento de los tumores de ovario, histerectomía, cirugía tubaria y miomectomía. Todas las pacientes se sometieron a estudio preoperatorio y una vez completado éste, se seleccionaron para cirugía. Los resultados obtenidos de las 40 pacientes mostraron que la cirugía laparoscópica resolvió la patología presente en forma satisfactoria. El tiempo quirúrgico en general fue en promedio de 66.8 min, con tiempo máximo de 180 y mínimo de 30 min, de acuerdo con los grupos de cirugía los tiempos fueron: 1) adherenciolisis, tiempo quirúrgico promedio de 47 min, 2) cirugía de ovario 69 min, 3) histerectomía 113 min, 4)cirugía de trompa con promedio de 60 min y 5) miomectomía 58 min. Todos los procedimientos se realizaron con cauterio bipolar. No existieron complicaciones quirúrgicas. Las pacientes tuvieron breve estancia hospitalaria, así como reintegración rápida a la vida activa. Se concluye que la cirugía laparoscópica en la actualidad constituye un recurso útil para la resolución de la mayoría de la patología ginecológica benigna que cuando está indicada en forma adecuada no incrementa la morbi-mortalidad y ofrece una recuperación temprana de las pacientes

Asunto(s)

RESUMEN

La infección cervical del virus del papiloma humano (VPH) se ha considerado como una de las enfermedades de transmisión sexual más frecuente en nuestro medio. Fueron estudiadas 50 parejas que consultaron por esterilidad y en las que las mujeres cursaban con infección cervical por VPH, a todas ellas se les realizó colposcopía, biopsia de cérvix, estudio de secreciones genitales, histerosalpingografía, laparoscopía y al esposo espermatobioscopía directa. Se analizó la edad, antecedentes obstétricos, inicio de relaciones sexuales, número de parejas sexuales, uso y tiempo de uso de dispositivos intrauterinos. Las pacientes con infección cervical por VPH tienen factores de riesgo para esterilidad por factor tuboperitoneal, además de estar en riesgo para otras enfermedades de transmisión sexual

Asunto(s)

RESUMEN

Se presenta el caso de una paciente de 27 años de edad, con historia de desarterialización parcial de útero por atonía uterina en su primer gestación, la cual consultó por esterilidad secundaria de 18 meses de evolución y que posterior a adherenciolisis laparoscópica logró embarazarse. Con excepción del factor tubo peritoneal, todo los demás factores de esterilidad estudiados, fueron normales. La desarterialización del útero debe de ser tomada en cuenta en pacientes con hemorragia obstétrica y desos de fertilidad posterior

Asunto(s)

RESUMEN

En el Hospital de Gineco-Obstetricia "Luis Castelazo Ayala", IMSS, en la Clínica de Esterilidad del 1- de Enero de 1985 al 31 de Diciembre de 1991 se practicaron 700 laparoscopias, encontrando 600 casos (85.7 por ciento) con factor tuboperioneal alterado; se realizaron 199 microcirugías (33.1 por ciento) consistentes en: plastía término terminal 70 casos (36 por ciento),(tres pacientes con antecedente de plastía en medio particular), adherenciolisis 62 (31 por ciento), salpingostomía 48 (24 por ciento), neoimplantación 10 (15 por ciento) y cirugía mixta nueve (4 por ciento). 78 pacientes abandonaron el estudio posterior a la cirugía. En 121 pacientes se tuvo control potquirúrgico, correspondiendo 34 (28.1 por ciento) A esterilidad primaria Y 87 (71.9 por ciento) a esterilidad secundaria. Se logró embarazo en 74 (61.2 por ciento), llegando a término 62 (83.8 por ciento), se presentaron siete abortos del primer trimestre (9.5 por ciento) y hubo una incidencia de cinco embarazos ectópicos (6.7 por ciento). El intervalo entre la cirugía y el logro del embarazo fue de 1 a 48 meses con promedio de 12.8 meses. Se hacen énfacis en analizar las 47 pacientes que no lograron embarazo mediante observación de tiempo posterior a la microcirugía, histerosalpingografía, nueva laparoscopia y revaloración de los factores de esterilidad cuyos resultados fueron: 19 casos (40.5 por ciento) tienen un tiempo postquirúrgico de 5 a 60 meses con promedio de 19.5 meses, 18 (38.3 por ciento) presentaron nueva obstrucción tubaria, tres (6.4 por ciento) se encuentran en tratamiento por endometriosis, tres (6.4 por ciento) bajo tratamiento por tuberculosis genital, dos (4.2 por ciento) con recaída del factor endocrinoovárico y dos (4.2 por ciento) con recaída del facor masculino. Hubo una defunción (0.5 por ciento) por complicación anestésica. Se enfatiza la importancia en el criterio de selección y una ealuación más estricta, insistiendo en el tratamiento pre, trans y postoperatorio, ligamentopexia de redondos, así como conscietizar a las pacientes en un seguimiento más estricto.

Asunto(s)

RESUMEN

En la Clínica de Esterilidad del Hospital de Ginecoobstetricia Luis Castelazo Ayala del IMSS, de enero de 1984 a poctubre de 1986 se practicó plastía tubaria a 49 pacientes. Diecinueve correspondieron a esterilidad primaria y 30 a esterilidad secundaria. La cirugía efectuada consistió en: adherenciolisis 15 casos, salpingostomía 19, anastomosis término-terminal ístimico-ampulara 8, neoimplantación 4 y cirugía mixta 3. Los resultados globales de embarazo fueron: en esterilidad primaria 31.5% (6 casos), en esterilidad secundaria 53.32% (16 casos). Veinte embarazos llegaron al término; dos fueron abortos del primer trimestre y ningún embarazo ectópico. El intervalo entre la cirugía y el embarazo fue de 2 a 12 meses. Se señala la importancia de practicar en todos los casos ligamentopexia de redondos y la iniciación de la relación sexual tempranamente

Asunto(s)

RESUMEN

El embarazo prolongado es una complicación frecuente, con una alta morbimortalidad perinatal, cuyo manejo encierra aún muchas incógnitas, derivadas principalmente de falta de algún recurso que los diagnostique con seguridad; en base ello y a informes previos en al literatura, acerca de la utilidad de determinar las propiedades procoagulantes del líquido amniótico como indicador de edad gestacional, se pretende en este estudio, precisar la utilidad del tiempo de aceleración de tromboplastina en líquido amniótico en el diagnóstico de postmadurez. A través del análisis de 261 líquidos amnióticos de embarazos entre 31 y más de 42 semanas, donde se comparan los valores de este parámetro entre los embarazos de término y los prolongados con fetos postmaduros, se concluye que este sencilho procedimiento para la detección de estos fetos en riesgo, es de gran utilidad

Asunto(s)