Curva de aprendizaje para el diagnóstico ecográfico específico de masas anexiales / Learning curve for the specific ultrasound diagnosis of adnexal masses

OBJETIVO: Determinar el tiempo que requiere una curva de aprendizaje para diagnóstico ecográfico específico histopatológico en masas anexiales basándonos en cálculos estadísticos no influidos por la prevalencia según diferentes grados de experiencia. MÉTODOS: Estudio observacional, descriptivo, transversal. Se estudiaron imágenes de 108 masas anexiales. La prueba estándar de oro fue el reporte histopatológico definitivo. Se comparó el rendimiento diagnóstico de 4 examinadores con la siguiente experiencia en diagnóstico ecográfico de patología anexial: A > 20 años, B ≤ 20 hasta > 10 años, C ≤ 10 hasta > 5 años y D ≤ 5 años, analizando solo imágenes y sin datos clínicos de las pacientes, para emitir un diagnóstico específico a libre escritura. RESULTADOS: Prevalencia de masas malignas 17,2 % (15/87). Nivel de confianza en los examinadores se consideró según falta de respuesta diagnóstica: alto (<6 %) con experiencia de más de 10 años y moderado a bajo ≤ 10 años. Examinadores con más de 5 años siempre mostraron likelihood ratio positivo mayor a 10, exactitud diagnóstica mayor a 90 % y Odds ratio diagnóstica mayor a 46, no así para examinador con menor tiempo de experiencia, quién presentó resultados con mala utilidad clínica. El cambio de probabilidad de acierto específico pre-test a post-test mejoró consistentemente con los años de experiencia. CONCLUSIÓN: Se necesitarían más de 10 años de experiencia con especial dedicación a ecografía ginecológica avanzada para un rendimiento diagnóstico específico deseado junto con alta confianza en ecografía de masas anexiales.

OBJECTIVE: To determine the time required for a learning curve of histopathological specific ultrasound diagnosis in adnexal masses based on statistical calculations not influenced by prevalence according to different degrees of experience. METHODS: Observational, descriptive, cross-sectional study. Images of 108 adnexal masses were studied. The gold standard test was the definitive histopathological report. The diagnostic performance of 4 examiners with the following experience in ultrasound diagnosis of adnexal pathology: A > 20 years, B ≤ 20 to > 10 years, C ≤ 10 to > 5 years and D ≤ 5 years was compared, analyzing only images and blinded of clinical data of the patients, to issue a specific diagnosis with free writing. RESULTS: Prevalence of malignant masses 17.2% (15/87). The level of confidence in the examiners was considered according to the lack of diagnostic response: high (<6%) with experience of more than 10 years and moderate to low ≤ 10 years. The examiners with more than 5 years always showed likelihood ratio positive greater than 10, diagnostic accuracy greater than 90% and diagnostic Odds ratio greater than 46, not so for the examiner with less experience time who presented results with little clinical utility. The change in specific probability from pre-test to post-test improved consistently with years of experience. CONCLUSION: More than 10 years of experience with special dedication to advanced gynecological ultrasound are probably needed for a desired specific diagnostic performance coupled with high confidence in adnexal mass ultrasound.

Carcinoma de células escamosas de piel: serie de casos / Carcinoma of squamous cells of skin: series of cases

Resumen Introducción: El cáncer de células escamosas (CCE) es el segundo cáncer de piel más frecuente. Sin embargo, no hay publicaciones en Chile sobre el tema. Objetivo: Investigar características sociodemográficas y clínicas del CCE en la Región de Coquimbo, Chile. Material y Métodos: Serie de casos de pacientes con diagnóstico de CCE de piel tratados en el hospital de Coquimbo, entre enero de 2006 y diciembre de 2015. Criterios de inclusión: diagnóstico histológico definitivo de CCE de piel. Criterio de exclusión: 1.- seguimiento posoperatorio menor de 12 meses; 2.- operado en otro hospital; 3.- sometido a otro tratamiento previo a la cirugía; 4.- metástasis cutáneas de un CCE mucoso; 5.- CCE con metástasis a distancia. Variables independientes: edad, género, localización, tamaño, linfonodos comprometidos, residencia costera-interior. Variables dependientes: recurrencia, factores de recurrencia, letalidad. Análisis estadístico: descriptivo y analítico con el programa SSPS. Resultados: Se registraron 2.202 casos de cáncer de piel, 1.487 basocelular (67,5%), 181 melanomas (8,2%) y 534 CCE (24,2%). 236 pacientes tienen datos completos y constituyen el informe, 153 hombres (64,8%) y 83 mujeres (35,2%). Edad: 75,5 años ± 11,7 (extremos 46-94). La localización es: cabeza 158 casos (66,9%), otras áreas expuestas 47 (20%) y no expuestas 31 (14,1%). En cabeza la localización más frecuente es mejilla 40 casos (25%), frente 29 casos (12,3%). En 119 casos (50,4%) el cáncer se presenta ulcerado y en 117, no ulcerado (49,6%); diámetro del tumor 22 milímetros (rango 3-100 mm). En 10 casos hay linfonodos clínicos (4,2%). En 12 casos (5,9%) se extirpa LNC, 2 positivos. 201 casos presentan bordes histológicos libres (85,2%) y en 35 casos, borde comprometido (14,8%). Tasa de recurrencia local 8,5% (20 casos) y ganglionar 2,1% (5 casos). Recidiva del cáncer se asocia a borde histológico comprometido: P = 0,001, IC 95% 3,12-12,19 y ulceración p = 0,01, OR 4,63; IC 1,59-13,50. Seguimiento de 36 meses (rango 12-228). Letalidad 2,56%. Conclusión: El CCE de piel extirpado precozmente con confirmación histológica de erradicación tiene buen pronóstico.

Introduction: Squamous skin cancer (SSC) is the second most frequent skin cáncer, nevertheless reports about this issue are not published in Chile. Objetive: To investigate social, demographics, and clinic characteristics of SSC in semidesertic Coquimbo Region, Chile. Material and Methods: serie of patients diagnosed and treated in Coquimbo hospital between January 2006 and December 2015. Inclussion criteria: 1.- histopathological confirmation of SSC. Exclusion criteria: 1.- follow up lesser than 12 months; 2.- operated in another hospital; 3.- submitted to another treatment prior to surgery; 4.- skin metastasis of mucous squamous carcinoma; 5.- patients with distant metástasis. Independent variables: age, gender, tumor site, tumor size, clinical lymph nodes, shore or valley residency. Dependent variable: recurrency frecuence, factors of recurrency, letality. Statistical analysis: descriptive and analytical by SSPS program. Results: 2.202 skin cancer cases were registered, 1.487 basal cells carcinoma (67.5%), 181 melanoma (8.2%) and 534 squamous cells carcinoma (24.2%). 236 patients with complete data are included in this report. There were 153 men (64.8%), and 83 women (35.2%). Mean age was 75.5 years old ± 11.7 (range 46-94). Primary site was: head 158 patients (66.9%), other sun exposed areas 47 patients (20%), and non exposed areas 31 patients. Cheek and front were the most frequents head site with 40 cases (25%) and 29 cases (12.3%), respectively. In 119 cases (50.4%) SCC was ulcerated, and 117 cases was not; primary tumor diameter was 22 millimeters (range 3-100). Clinical lymph nodes were primarily positives in 10 patients, (4.2%). In 12 cases with negative lymph nodes, sentinel limph node was resected. 2 were positives. Histological borders were tumor free in 201 patients (85.2%) and, 35 cases (14.8%) had positive histological borders. Local recurrence incidence was 8.5% (20 cases). Limph nodes recurrence was 2.1% (5 cases). Cancer recurrence was associated with histological positive borders P = 0.001, IC 95% 3.12-12.19, and ulcerated tumor p = 0.01, OR 4.63; IC 1.59-13.50. Letality was 2.56%. Mean follow up was 36 months (range 12-228 months). Conclusions: SSC has a good prognosis when primary tumor is resected early, with free histological borders resection.

Nevus melanocítico congénito, a propósito de un caso / Congenital melanocytic nevi, case report

INTRODUCCIÓN: Los nevus melanocíticos son proliferaciones benignas de células névicas. Los nevus melanocíticos congénitos (NMC) representan el 1 por ciento del total y según su tamaño se clasifican en pequeños, medianos o gigantes. PRESENTACIÓN DEL CASO: Paciente de sexo masculino, 6 años de edad, con NMC gigante en forma de traje de baño. Controlado en policlínico de Dermatología desde su nacimiento, se mantuvo en observación realizándose exámenes imagenológicos, biopsias de piel y nódulos. En reunión multidisciplinaria respecto al caso, se plantea tratamiento quirúrgico incisional por etapas. DISCUSIÓN: El manejo de los NMC es controversial, se describen múltiples terapias que incluyen escisión, dermoabrasión, ablación con láser, etc. Pero para disminuir el riesgo de malignización la única efectiva es la escisión, no siempre posible en los NMC gigantes. Para los NMC de pequeño o mediano tamaño se recomienda un manejo individualizado con evaluaciones periódicas con dermatoscopía. En el caso de los NMC gigantes la mayoría de los autores concuerda en una extirpación temprana agresiva para disminuir el riesgo de malignización. En el caso clínico expuesto, el paciente presenta factores de riesgo para las dos principales complicaciones, por lo que se plantea el tratamiento quirúrgico. La remoción completa frecuentemente necesita de escisión por partes, usando expansores de piel e injertos dérmicos. Independiente de la terapia que se elija hay que considerar la necesidad del apoyo psicológico en este tipo de lesiones.

INTRODUCTION: Melanocytic nevi are benign proliferations of nevus cells. Represent 1 percent of all melanocytic nevi and are classified by size into small, medium or giant. CASE REPORT: Male patient, 6-year-old with giant congenital melanocytic nevi (CMN) as swimsuit. Controlled in the Department of Dermatology at birth, was kept under observation imaging tests, and skin biopsies performed nodules. In multidisciplinary meeting on the case, incisional surgical treatment arises in stages. DISCUSSION: The management of NMC is controversial; multiple therapies are described, including excision, dermabrasion, laser ablation, etc. But excision is the only way to reduce the risk of malignancy, not always possible in the giant NMC. NMC for small to medium size individualized management with periodic evaluations with dermoscopy is recommended. In the case of the giant NMC most authors agree on an aggressive early removal to reduce the risk of malignancy. In the case report, the patient had risk factors for the two major complications, so that surgical treatment is considered. Complete removal often requires cleavage by parts, using skin expanders and skin grafts. Independent of therapy you choose must consider the need for psychological support in this type of injury.

Cytogenetic studies of Brazilian pediatric myelodysplastic syndrome cases: challenges and difficulties in a large and emerging country

Myelodysplastic syndromes (MDS) and juvenile myelomonocytic leukemia (JMML) are rare hematopoietic stem cell diseases affecting children. Cytogenetics plays an important role in the diagnosis of these diseases. We report here the experience of the Cytogenetic Subcommittee of the Brazilian Cooperative Group on Pediatric Myelodysplastic Syndromes (BCG-MDS-PED). We analyzed 168 cytogenetic studies performed in 23 different cytogenetic centers; 84 of these studies were performed in patients with confirmed MDS (primary MDS, secondary MDS, JMML, and acute myeloid leukemia/MDS+Down syndrome). Clonal abnormalities were found in 36.9% of the MDS cases and cytogenetic studies were important for the detection of constitutional diseases and for differential diagnosis with other myeloid neoplasms. These data show the importance of the Cooperative Group for continuing education in order to avoid a late or wrong diagnosis.

Cáncer de mama inflamatorio / Breast cancer intrainflamatorio

El cáncer de mama inflamatorio es una patología poco frecuente, sin embargo, su importancia radica en la agresividad de su evolución. A nivel nacional no existe estadística certera respecto al porcentaje del cáncer inflamatorio de mama como tal. En el Hospital Base de Valdivia, constituye el 3,3 por ciento de los carcinomas mamarios invasores según una revisión de los últimos 3 años. El diagnóstico de esta patología está basado en la sospecha clínica, en pacientes que presenten eritema, edema, piel de naranja, nódulos y/o induración mamaria. La histopatología del tumor primario y de la piel permite la confirmación diagnóstica. En cuanto al tratamiento, en la actualidad existe consenso de que las pacientes deben ser sometidas a un tratamiento multimodal, éste consiste en quimioterapia neoadyuvante, para luego efectuar la terapia locorregional. Lo particular de este tipo de cáncer, es que posee características biológicas intrínsecas de rápida progresión y alto poder de diseminación, lo que le confiere un mal pronóstico.

Inflammatory breast cancer is a rare disease, but its importance lies in the aggressiveness of its evolution. At the national level there is no accurate statistics on the percentage of inflammatory breast cancer as such. In the Base Hospital of Valdivia, constitute 3.3 percent of invasive breast carcinomas according to a review of the past 3 years. The diagnosis of this disease is based on clinical suspicion in patients presenting with erythema, edema, cellulitis, nodules, and / or breast induration. The histopathology of the primary tumor and skin allows diagnostic confirmation. As for treatment, there is now consensus that patients should be subjected to a multimodal treatment, starting with neoadjuvant chemotherapy and then perform locoregional therapy. The particularity of this type of cancer is that it has intrinsic biological characteristics of rapid progression and high power spread, which gives a poor prognosis.

Tratamiento de la distrofia simpático refleja (DSR) con nitroglicerina transdérmica (Estudio descriptivo de 81 pacientes) / Treatment of the reflex sympathetic dystrophy (RSD) with transdermal nitroglycerin. Descriptive study on 81 patients

En 81 pacientes de DSR, estadio 1 predominante, se realizó en el período comprendido entre los años 1996-2000 un estudio descriptivo con base fisiopatológica con el objetivo de valorar la acción terapéutica de la nitroglicerina transdérmica en este síndrome. En la muestra estudiada se destacan: la edad media que fue de 51,5+15.2 años (rango 16 a 82 años), el sexo femenino en 61 casos (75,3 por ciento) y, entre los factores desencadenantes, los traumas: 50 casos (61,7 por ciento). El diagnóstico de DSR fue clínico, complementado por la centellografía ósea con 25 mC de Tc 99 DMP, realizada en 36 casos (44,4 por ciento), siendo positiva en 32 casos (89,0 por ciento), y por la radiografía de la zona afectada en 54 pacientes (66,6 por ciento), observándose osteoporosis difusa en 53 (98,1 por ciento). La nitroglicerina se utilizó bajo la forma farmacéutica de parches de absorción transdérmica a concentraciones de 25 y 50 mg con liberación horaria de 0 mg 2-0 mg 4. La duración del tratamiento promedio fue de 4,4+3,0 meses. La acción terapéutica clínica se demuestra por los resultados siguientes: como variables: la edad -años-, la evolución previa de la DSR -en meses- y tiempo de tratamiento en meses, en función de la respuesta al tratamiento (evolución excelente o muy buena o evolución buena o sin cambios). Un valor de p < 0,05 fue considerado para establecer la significación de los test empleados. Los resultados expresan que los valores de p son de 0,06, 0,004 y 0,04 respectivamente. Se demuestra, por ende, el valor terapéutico de la nitroglicerina principalmente cuando es suministrada precozmente. Los efectos secundarios adversos se manifestaron en 68 por ciento de los pacientes, que cedieron total o parcialmente, al continuar con la medicación y/o con la administración nocturna; un solo caso abandonó el estudio por intolerancia a la nitroglicerina.

TRAP-silver staining, a highly sensitive assay for measuring telomerase activity in tumor tissue and cell lines

Measurement of telomerase activity in clinically obtained tumor samples may provide important information for use as both a diagnostic marker and a prognostic indicator for patient outcome. In order to evaluate telomerase activity in tumor tissue without radiolabeling the product, we developed a simple telomeric repeat amplification protocol-silver-staining assay that is less time-consuming, is safe and requires minimal equipment. In addition, we determined the sensitivity of the silver-staining method by using extracts of telomerase-positive thyroid carcinoma cell lines which were serially diluted from 5,000 to 10 cells. Telomerase activity was also assayed in 19 thyroid tumors, 2 normal controls and 27 bone marrow aspirates. The results indicate that the technique permits the detection of telomerase activity from 5000 to as few as 10 cells. We propose that it could be immediately applicable in many laboratories due to the minimal amount of equipment required

Perfil del paciente pediátrico mayor de un mes que fallece en el Hospital Félix Bulnes, 1999-2000 / Profile of infant patients that death at the Hospital Félix Bulnes 1999-2000

La mortalidad infntil en Chile ha disminuído en las ultimas décadas y el tipo de paciente que se hospitaliza ha variado con respecto a sus antecedentes clínicos y patología, por tal motivo se nos propuso tipificar al paciente pediátrico mayor de 28 días que fallece durante su hospitalización, pesquisando factores de riesgo que aumentan la probabilidad de fallecer y obtener la tasa de letalidad infantil intrahospitalaria. Se realizó un estudio de caso-controles (199-2000), con 56 pacientes fallecidos (casos) y 112 controles pareados por edad, sexo y período estacional de su hospitalización, la fuente de información fue la ficha clínica y el informe anatomopatológico. Los resultados muestran una tasa de letalidad infantil de 1.5x 100 egresados, siendo ésta mayor en el grupo etario menor de 3 meses (1.9), en el sexo masculino (1.64) y en el período oto¤o-invierno (1.56). Antecedentes estadísticamente significativos como factores de riesgo: parto quirurgico (OR: 2.7), prematurez (OR: 4.1), bajo peso al nacer (OR: 6.9), patología neonatal (OR:4.6), genopatía (OR: 8.9), malformación congénita (OR: 8.4), ausencia de lactancia materna exclusiva (OR: 6.25), infección intrahospitalaria (OR:2.4). La patología respiratoria constituyó la causa más frecuente de muerte (61 por ciento) y morbilidad (85 por ciento) intrahospitalaria

Molecular cytogenetics as a tools for predicting cancer prognosis with special reference to neuroblastoma tumors

Consistent cytogenetic abnormalities have been identified in a variety of human cancer cells and some of them are related to patiente prognosis. Fluorescence "in situ" hybridization (FISH) is a new methodology which can be used to detect cytogenetic anomalies within interphase cells. We present several aspects of FISH methodology and its application in several examples, including trisomy 8 detection with higt specificity and sensitivy in patients with myeloid leukemias; trisomy 12 detection with highter efficiency than conventional cytogenetics in patients with chronic lymphocytic leukemia; assessment of engraftment success; chimerism, and relapse in opposite sex bone marrow transplantation; and correlation of trisomy 7 with survival time in patients with prostate tumors. We discuss also some aspects of neuroblastoma tumors, one of the most frequent malignant solid tumor in childhood. At diagnosis the patient's age and tumor stage are the major prognostic factors. Favorable prognosis is associated with triploid karyotype, lack of 1 p abnormalities and absence of N-myc amplification, whereas unfavorable prognosis is associated with pseudodiploid or tetraploid karyotype, 1 p deletion and N-myc amplification. These abnormalities can be investigated quickly and effecctively in interphase cells using FISH.

Molecular cytogenetics as a tool for predicting cancer prognosis with special reference to neuroblastoma tumors

Consistent cytogenetic abnormalities have been identified in a variety of human cancer cells and some of them are related to patient prognosis. Fluorescence "in situ" hybridization (FISH) is a new methodology which can be used to detect cytogenetic anormalies within interphase cells. We present several aspects of FISH methodology and its application in several examples, including trisomy 8 detection with high specificity and sensitivity in patients with myeloid leukemias; trisomy 12 detection with higher efficiency than conventional cytogenetics in patients with chronic lymphocytic leukemia; assessment of engraftment success, chimerism, and relapse in opposite sex bone marrow transplantation; and correlation of trisomy 7 with survival time in patients with prostate tumors. We discuss also some aspects of neroblastoma tumors, one of the most frequent malignant solid tumor in childhood. At diagnosis the patient's age and tumor stage are the major prognostic factors. Favorable prognosis is associated with triploid karyotype, lack of 1p abnormalities and absence of N-myc amplication, whereas unfavorable prognosis is associated with pseudodiploid or tetraploid karyotype, 1p deletion and N-myc amplication. These abnormalities can be investigated quickly and effectively in interphase cells using FISH.

Neuron-specific enolase is a useful marker of neuroendocrine origin in pheochromocytoma cell culture

Neuron-specific enolase (NSE) has been used as a marker for neuroendocrine tumors either in immunocytochemical studies or in serum measurements. ln this paper NSE levels were determined in cultured pheochromocytoma cells to test whether it is also a useful marker ín cell culture of tumors derived from neuroendocrine system. Cultured pheochromocytoma cells came from a primary explant and were grown in RPMI supplemented with 20 per cent fetal calf serum, 100 mug/mL ampicillin and 100 mug/mL streptomycin. NSE was measured in culture medium and cell homogenates. Samples from different pheochromocytoma cultures were analyzed and compared to normal cultured fibroblast cells derived from human skin. NSE was measured by a commercially available radioimmunoassay kit. NSE levels were higher in cell homogenates as compared to those in culture medium, reaching levels as high as 6-fold in the former in TE cell line (26.46 ng/mL and 4.39 ng/mL respectively. Serial NSE measurements in culture medium from TE cell line evidenced decreasing values in subsequential subcultures (from 9.24 ng/mL during primary explant to 1.7 ng/ml. in the 10th subculture). In cultured normal fibroblasts, NSE levels in cultured media were definitely lower than those obtained from pheochromocytoma cultures. These preliminary data suggest that NSE may be a useful marker of neuroendocrine derived tumors, such as pheochromocytoma, in culture. Thus, the simplicity and availability of NSE radioimmunoassay provides an alternative to catecholamine measurement to better characterize pheochromocytoma cell lines in culture, with the advantage of faster results at lower costs.

Chorea as a sign of systemic lupus erythematosus activity. Case report

Chorea may occur as a neurological manifestation of systemic lupus erythematosus and is often associated with detection of antiphospholipid antibodies. No evidence of chorea as a sign of lupus activity has been established. We describe a patient with systemic lupus erythematosus associated with antiphospholipid antibodies who developed chorea, which has been considered a sign of lupus activity.

X-chromatin evaluated by Feulgen's stain method in congenital virilizing adrenal hyperplasia.

A frequencia de cromatina sexual na mucosa oral foi investigada em 11 pacientes do sexo feminino com hiperplasia congenita das supra-renais devido a deficiencia da 21-hidroxilase, forma virilizante simples.Usou-se o metodo de Feulgen para a coloracao. Demonstrou-se uma reducao da frequencia da cromatina sexual oral nestes pacientes em relacao a um grupo de mulheres normais (13,6 +/- 2,2% - 17,9 +/- 0,8% X +/- EPM). Apos 4-5 semanas de terapia com glicocorticoide, nao se observou diferenca estatisticamente significativa entre os grupos estudados (17,1 +/- 2,0%). O cariotipo realizado em 8 dos 11 casos estudados mostrou padrao feminino normal. Estas variacoes da frequencia da cromatina sexual poderiam estar relacionadas com o tamanho nuclear medio da populacao celular estudada

Familial dwarfism, high serum ria-GH and low somatomedin activity: an approach to pituitary LH secretory reserve.

Dois irmaos com sindrome de Laron foram estudados. A reserva secretoria pituitaria de LH foi estudada por meio do LHRH. Respostas sub-normais de LH ao estimulo com LHRH foram notadas, mas doses repetidas de LHRH produziram maior resposta de LH. Os niveis sericos de hormonio de crescimento (HC) eram altos, elevaram-se ainda mais apos estimulo com insulina e 90min apos o inicio do sono. Apos o GTT, os niveis de HC nao decresceram como o esperado. Os niveis basais de somatomedina (SM) eram baixos e nao aumentaram apos administracao de HC humano. Nao foram observadas alteracoes significativas no balanco metabolico apos administracao de HC humano. Um estudo genetico preliminar foi realizado, considerando 40 casos descritos na literatura

Fatores que influenciam o sucesso em cultura de fibroblastos. / Factors influencing the sucess in fibroblasts culture

Relataram-se diferentes fatores que podem influenciar no sucesso do estabelecimento do metodo de cultura de fibroblastos. Tres linhagens celulares foram cultivadas advindas de: pele de embriao de galinha, fibroblastos de rato (ST1) e pele humana normal. Mostrou-se a evolucao inicial do crescimento celular de explantes primarios de pele humana e de embriao de galinha