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External sources of information determine human actions. However, psychological traits (PTs), considered internal variables, also play a crucial role in decision-making. PTs are stable across time and contexts, and they define the set of behavioral repertoires that individuals express. Here, we explored how multiple metrics of adaptive behavior under uncertainty related to several PTs. Participants solved a multiple baseline reversal-learning task with volatile contingencies, from where we characterized a detailed behavioral profile based on a wide variety of measurements from their response sequences. We then tested the relationship between the multimetric behavioral profile and a wide range of self-reported psychological questionnaires. The PT measurements were based on the Hierarchical Taxonomy Of Psychopathology (HiTOP) model. We found that the learning curves alone predicted important differences in the PTs, and task response times. Similarly, the behavioral profile configurations predicted the PTs, and could be used as a ‘fingerprint’ to identify participants with a high certainty level. We discuss how this characterization could contribute to constructing a better nosological classification.

INTRODUCTION: Turner syndrome(TS) is a chromosomal disorder that occurs in one of every 2500 live births, characterized by the complete or partial absence of a chromosome X (the complete monosomy [45,X] accounts for more than 50% of cases), although some studies have found evidence of a high prevalence of mosaicism. It is associated with a range of phenotypic characteristics, chief of which are short stature, gonadal dysgenesis, hand and foot lymphoedema, pterygium colli, cubitus valgus and cardiovascular malformations, among others. Growth failure is a cardinal feature of TS, which may impair their quality of life, and adult patients have a mean height approximately 20 cm lower than that of unaffected women of the same ethnic group. METHODOLOGY: A study performed in the outpatient clinic of pediatric endocrinology of the National Institute for Pediatrics, descriptive, retrospective in 19 patients with Turner syndrome confirmed with karyotype, was followed up for 1 year in growth hormone treatment, size, weight was determined , Body mass index, growth rate at the beginning and at the end of the treatment. In addition, serum glucose, glycosylated hemoglobin was determined at the beginning and end of treatment. Statistical analysis was performed in the SPSS version program. RESULTS: We evaluated 19 patients with mean age 9 years +3.51, the average of the dose of growth hormone was of 1.43mg / day the size before treatment was an average of 114.73 with a SD:-3.06, showing improvement in the posterior size to treatment with an average of 119.25 SD:-2.7. In addition, the Body Mass Index was assessed with an average of 24.63 + 9.9 and at the end of treatment 27.98 +10.4. Regarding the growth rate, it is observed prior to the treatment Media 4.3 DE: 1.66 and the growth rate after the average treatment: 17.5 DE: 3.42 Levels of glycosylated hemoglobin (HBA1C) were assessed at the start of treatment with a mean of 5.3 (4.2- 5.7) and at the end of treatment the average of HBA1C 5.59 (4-6). DISCUSSION AND CONCLUSIONS: The short stature in TS is the fundamental finding and may be present in the absence of other clinical manifestations.The use of rhGH to increase the speed of growth and final height in patients with TS is an accepted and endorsed by different study. It has been observed in international studies that gains of 5-10cm are obtained with respect to the final size. It should start when the size is below -2 SDS with respect to the population mean or when the growth rate is lower than the 10th percentile for their bone age.The study that is presented is 12 months after the start of the treatment, an increase in the speed of growth as well.

INTRODUCTION: PLA2G6-associated neurodegeneration (PLAN) comprises a continuum of three phenotypes with overlapping clinical and radiologic features. METHODS: Observational clinical study in a cohort of infantile and childhood onset PLAN patients and genetic analysis of the PLA2G6 gene. We analysed chronological evolution in terms of age at onset and disease course through a 66-item questionnaire. We performed qualitative and quantitative assessment of MRI abnormalities and searched for clinical and radiological phenotype and genotype correlations. RESULTS: Sixteen PLAN patients (mean age: 10.2 years, range 3-33) were evaluated, with a median onset (years) of signs/symptoms as follows: neurological regression (1.5), oculomotor abnormalities (1.5), hypotonia (1.8), gait loss (2.2), pyramidal signs (3.0), axonal neuropathy (3.0), dysphagia (4.0), optic atrophy (4.0), psychiatric symptoms (4.0), seizures (5.9), joint contractures (6.0), dystonia (8.0), bladder dysfunction (13.0) and parkinsonism (15.0). MRI assessment identified cerebellar atrophy (19/19), brain iron deposition (10/19), clava hypertrophy (8/19) and T2/FLAIR hyperintensity of the cerebellar cortex (6/19). The mid-sagittal vermis relative diameter (MVRD) correlated with age at onset of clinical variants, meaning that the earlier the onset, the more severe the cerebellar atrophy. All patients harboured missense, nonsense and frameshift mutations in PLA2G6, including four novel variants. CONCLUSIONS: Cerebellar atrophy was a universal radiological sign in infantile and childhood onset PLAN, and correlated with the severity of the phenotype. Iron accumulation within the globus pallidum and substantia nigra was also a common and strikingly uniform feature regardless of the phenotype.

incidence of sympthomatic salivary disease in patients with differentiated thyroid cancer treated with radioactive iodine Background: The radioactive iodine therapy for differentiated thyroid cancer can produce severe and frequent salivary symptoms, during the treatment or later. aim: To analyze the incidence, severity and charactheristics of the salivary signs and symptoms in these patients. Patients and Method: Retrospective and descriptive analisis of 106 patients with confirmed diagnosis of differentiated thyroid cancer, treated with surgery and radioactive iodine, that completed a telephonic survey for the evaluation of salivary symptoms. results: 26 (24.52%) patients presented with salivary symptoms or signs after the radioactive iodine therapy (mean 5 months). The average doses of I 131 was 128,5 mCi. Xerostomy, pain, xeroftalmy, inflammation, sialoadenitis and dysgeusia, were the most frequent clinical symptoms. conclusions: After radioactive iodine therapy the salivary symptoms and signs incidence is high. We conclude that the indication for this treatment must be selective, but in accordance with the oncological risk of each patient.

Introducción: El hiperparatiroidismo primario (HPTP), es una entidad frecuente que afecta entre el 0,1 y 2% de la población. La cirugía es el único tratamiento curativo. Objetivo: Evaluar la eficacia y riesgos del tratamiento quirúrgico del HPTP. Material y Métodos: Estudio analítico-descriptivo. Se incluyó a todos los pacientes con diagnóstico de HPTP referidos para cirugía al Hospital Clínico de la Pontificia Universidad Católica de Chile entre junio de 2003 y junio de 2013. Resultados: 173 pacientes fueron operados en nuestra institución por HPTP. El promedio de edad de los pacientes fue de 57,5 ± 13,5 años. La forma de presentación fue asintomática en 98 casos (56,6%) y sintomática en 75 casos (43,4%). Todos los pacientes fueron tratados con resección de la o las glándulas hiperfuncionantes con medición de PTH intraoperatoria. En 167 pacientes (96,5%) se logró caída de PTH intraoperatoria > 50%. Catorce pacientes (8,1%) presentaron complicaciones post operatorias. La mediana de hospitalización fue de 2 días (1 a 23 días). La mediana de seguimiento fue de 61 meses (6 a 117 meses). Se logró curación en 169 pacientes (97,7%). Cuatro casos (2,3%) presentaron recidiva. Conclusiones: La cirugía es eficaz y segura para el tratamiento del hiperparatiroidismo primario. Una caída de PTH intraoperatoria > 50% del valor basal predice curación en 97,7% de los casos.

Background Infant botulism (IB) is caused by the intestinal colonization by Clostridium botulinum in the first year of life and its subsequent production of neurotoxins. Traditionally, IB has been associated to honey consumption. IB cases tend to cluster in geographic regions. In Europe, IB is a rare disorder. From 1976 through 2006, 65 cases were identified in 13 European countries. In Spain, in the last 15 years, most of the cases have been reported in one region, Andalusia (Southern Spain). A specific treatment for IB type A and type B (BabyBIG) is available outside of the United States since 2005. Methods and aims: We performed a retrospective review of IB cases detected in Andalusia since 1997 and compare them with the cases of IB reported in Europe. Results We identified 11 confirmed cases of IB in Andalusia since 1997, and 14 cases in Spain. Nine out of 11 cases were detected since 2007; none of these infants had been exposed to honey consumption. One case in 1997 and another in 2000 were associated to honey. Two cases were treated with BabyBIG in 2007. In the period 2006–2012 the cases of IB reported in Europe were 54. Conclusions We identified a considerable increase in the incidence of IB since 2006. A tendency to a reduction in the number of cases of IB linked to honey consumption has also been identified. An increase in the exposure to these bacteria from the environment could be presumed. Clinicians should maintain a high index of suspicion for this treatable disorder.

Background: The prognosis of breast cancer (BC) is in part determined by the stage at diagnosis and its pathological characteristics. Aim: To evaluate the association between survival of women with metastatic breast cancer and pathological features of the tumor. Patients and Methods: We obtained clinical and pathological data from patients diagnosed with a metastatic BC between 1999 and 2013. The expression of estrogen (ER) and progesterone (PR) receptors and human epidermal growth factor receptor 2 (HER2) was determined by immunohistochemistry. Clinicopathological subtypes were defined as: Luminal A: ER or PR positive, HER2 negative, histological grade (HG) 1 or 2; Luminal B: ER or PR positive, HER2 negative or positive or HG 3; triple negative (TN): ER, PR and HER2 negative, independent of the HG, positive HER2: ER, PR negative and HER2 positive, independent of HG. We analyzed survival based on these subtypes. Results: We identified 54 patients aged 24 to 85 years, with metastatic BC at diagnosis. Seventy five percent had luminal tumors; 19.6% HER2 positive and 7.8% were TN. In 61% of evaluable tumors, HG was classified as 3. The frequency of HER2 positive and high HG tumors was greater in these patients with metastatic BC than in a non-metastatic local BC cohort. Survival was higher among patients with Luminal tumors than in women with non-Luminal cancer (56.4 and 11.4 months, respectively, p = 0.04). Conclusions: Patients with metastatic BC at diagnosis often had HER2 positive tumors and high HG. As in other studies, ER positive tumors had a better survival.

Correlation of preoperative parathormone level with estimated volume and weight of the parathyroid adenoma in patientes with primary hyperparathyroidism Background: Primary hyperparathyroidism is caused mostly by a single adenoma and it is the most frequent cause of hypercalcemia in outpatients. Hyperplasia of the four glands and cancer are the other ethiological diagnosis. It has been postulated that the bigger and heavier an adenoma is the higher the preoperative PTH level. Objective: To evaluate a mathematical relation between adenoma estimated volume and weight and preoperative parathormone level (prPTH). Method: Retrospective analysis of 71 evaluable treated patients biopsies and preoperative PTH level. Results: A mathematical positive and weak correlation between volume, weight and preoperative PTH was obtained. This correlation was positive and strong between volumen and weight. Conclusions: In this group we found a positive and weak mathematical relation between weight, volume and preoperative PTH levels. These aspects alone are useful but only in combination with others for the correct interpretation of pre and intraoperative findings.

Introducción: La importancia de las metástasis encontradas en linfonodos centinelas (LC) de pacientes con cáncer de mama ha sido cuestionada, por lo que frente al hallazgo de éstas, la observación sin disección axilar (DA), asociada a terapias adyuvantes, ha sido considerada como una alternativa en los últimos años. Objetivo: Evaluar las macro (MA), micro (MI) y submicrometástasis (SM) de cáncer de mama en LC, y su impacto en la DA posterior. Materiales y Métodos: Se revisaron los resultados de las biopsias de pacientes con cáncer de mama invasor con MA, MI y SM encontradas en el LC operadas en nuestra institución, entre mayo de 1999 y diciembre de 2011. Resultados: Se encontraron 134 pacientes con MA, 33 pacientes con MI y 30 SM, dentro de 632 pacientes con cáncer de mama invasor a los que se les realizó LC. De estos se operaron 130, 24 y 17 pacientes, respectivamente. La frecuencia de Linfonodos No Centinelas (LNC) con metástasis encontradas en la DA fue de 46,9% (61/130) para MA, 33,3% (8/24) para MI y 23,5% (4/17) para SM. Las metástasis del LNC provenientes de MA modificaron el TNM en 26,9% (35/130), las provenientes de MI en 20,8% (5/24) pacientes, mientras que las SM sólo lo modificaron en un paciente (5,9%). Conclusiones: La frecuencia del compromiso linfonodal en la DA es significativamente mayor en las pacientes con MA. El número de DA sin claro aporte terapéutico es alto y aumenta al disminuir el tamaño de las metástasis en el LC. Los resultados apoyan no realizar la DA en pacientes con MI y SM en el LC, que hayan recibido tratamiento quirúrgico conservador y vayan a recibir adyuvancia sistémica.

El cancer medular de la tiroides (CMT) comprende alrededor del 5 % de todos los canceres tiroideos. La cirugia es el unico tratamiento curativo. Nuestro objetivo es presentar nuestra experiencia en 10 anos de tratamiento. Material y metodos: estudio descriptivo – serie de casos. Se incluyo a todas los pacientes con diagnostico de CMT tratados en el Hospital Clinico de la Pontificia Universidad Catolica de Chile entre junio del 2002 y junio de 2012. Resultados: 30 pacientes fueron operados en nuestra institucion por CMT. El promedio de edad fue 47,8 ± 15 anos. Todos los casos fueron esporadicos. En 22 pacientes el diagnostico fue preoperatorio. Se realizo tiroidectomia total en todos los casos asociada a diseccion cervical en 24 de ellos. La mediana de seguimiento fue de 50 (2-120) meses. En 25 de 28 pacientes (89,2%) se logro la remision total de la enfermedad. Hubo recurrencia en tres pacientes. No hubo mortalidad. Conclusiones: el CMT es una entidad de poca frecuencia, el diagnostico preoperatorio se basa principalmente en el estudio citologico. La tiroidectomia total y la diseccion cervical son el tratamiento de eleccion sin existir un consenso referente a la extension de esta ultima. El diagnostico en estadio temprano esta asociado a bajas tasas de enfermedad persistente y recurrencias, lo que se refleja en una mayor sobrevida

Background The effectiveness of radial access ( RA ) in ST ‐elevation myocardial infarction ( STEMI ) has been predominantly established in primary percutaneous coronary intervention ( pPCI ) with limited exploration of this issue in the early postfibrinolytic patient. The purpose of this study was to compare the effectiveness and safety of RA versus femoral ( FA ) access in STEMI undergoing either a pharmacoinvasive ( PI ) strategy or pPCI . Methods and Results Within ST rategic Reperfusion Early After Myocardial Infarction ( STREAM ), we evaluated the relationship between arterial access site and primary outcome (30‐day composite of death, shock, congestive heart failure, or reinfarction) and major bleeding according to the treatment strategy received. A total of 1820 STEMI patients were included: 895 PI (49.2%; rescue PCI [n=379; 42.3%], scheduled PCI [n=516; 57.7%]) and 925 pPCI (50.8%). Irrespective of treatment strategy, there was comparable utilization of either access site ( FA : PI 53.4% and pPCI 57.6%). FA STEMI patients were younger, had lower presenting systolic blood pressure, lesser Thrombolysis In Myocardial Infarction risk, and more ∑ ST ‐elevation at baseline. The primary composite endpoint occurred in 8.9% RA versus 15.7% FA patients ( P RA persisted (adjusted odds ratio [ OR ], 0.59; 95% CI , 0.44–0.78; P pPCI (adjusted OR , 0.63; 95% CI , 0.43–0.92) and PI cohorts (adjusted OR , 0.57 95% CI , 0.37–0.86; P interaction=0.730). There was no difference in nonintracranial major bleeding with either access group ( RA vs FA , 5.2% vs 6.0%; P =0.489). Conclusions Regardless of the application of a PI or pPCI strategy, RA was associated with improved clinical outcomes, supporting current STEMI evidence in favor of RA in PCI . Clinical Trial Registration URL : https://www.clinicaltrials.gov/ . Unique identifier: NCT 00623623.

Resumen El melanoma es un tumor maligno que tiene una alta tendencia a metastizar localmente, regionalmente al sistema linfatico, y en forma sistemica, preferentemente a pulmones, higado, cerebro y hueso. La cirugia es el principal tratamiento para el melanoma, con excelentes resultados en estadios precoces, pero escasa utilidad en etapas avanzadas con enfermedad sistemica. Tradicionalmente los tratamientos en base a quimioterapias citotoxicas han aportado poco beneficio a los pacientes en etapa IV, lo que ha motivado una amplia investigacion e innovacion en esta area. Actualmente la Food and Drug Administration (FDA) ha aprobado nuevas terapias para el tratamiento del melanoma metastasico, irresecable o recurrente, en base a drogas inmuno moduladoras y drogas que bloquean la transduccion de senales, con resultados muy promisorios. Los cirujanos que tratamos pacientes con melanoma, debemos estar al dia sobre el uso de estas nuevas terapias que representan una nueva oportunidad de tratamiento para nuestros pacientes.

Introducción: La disfonía es una de las complicaciones en tiroidectomías más importante y frecuente. Su incidencia varía entre 0 y 20%. Esta incidencia depende de factores como el tipo de diagnóstico preoperatorio, el volumen del bocio, la experiencia del cirujano y otros factores generales que pueden teóricamente influir. Objetivo: Evaluar un grupo no habitualmente considerado de factores de riesgo de disfonía en tiroidectomías. Pacientes y Métodos: Estudio prospectivo con análisis de fichas clínicas y realización de una encuesta preoperatoria en 56 pacientes consecutivos. Resultados: En este estudio no fue demostrado estadísticamente un mayor riesgo de disfonía en pacientes con los factores de riesgos planteados. Conclusiones: Aunque los factores estudiados en esta muestra pueden teóricamente aumentar la incidencia de disfonía postiroidectomía, parecen no ser los más influyentes. Podría ser de utilidad realizar una evaluación dirigida otorrinolaringológica en estos pacientes para objetivar su real riesgo de disfonía postoperatoria.

Resumen: La encefalopatía aguda necrosante (EAN) es una encefalopatía rápidamente progresiva que se presenta en niños por lo demás normales asociada a infecciones víricas comunes, como influenza y parainfluenza. La mayoría de los casos son esporádicos y no recurrentes, y se han descrito en pacientes asiáticos, aunque también se han comunicado casos aislados en países occidentales.Recientemente se han encontrado mutaciones en heterocigosis de un gen que codifica una proteína componente del poro nuclear, denominada Ran Binding Protein 2 (RANBP2), en un número significativo de pacientes con esta forma familiar o recurrente de EAN.A continuación se describe una familia española con la forma familiar y recurrente de EAN, en la que el estudio de secuenciación del gen RANBP2 fue negativo. Las mutaciones del gen RANBP2 no son el único alelo que determina susceptibilidad para el desarrollo de la forma familiar o recurrente de EAN. Abstract: Acute necrotizing encephalopathy (ANE) presents in children after common viral infections. Most cases of ANE are non-familial and non-recurrent and have been mainly reported in Asian patients, although ANE affects children worldwide. Recently, missense mutations in the gene encoding the nuclear pore protein Ran Binding Protein 2 (RANBP2) have been found in several families with familial or recurrent cases of ANE. We describe a Spanish family with familial and recurrent ANE without mutations in RANBP2. Mutations in RANBP2 are not the sole susceptibility alleles for familial or recurrent ANE.

Clinicopathological features and survival of patients with bilateral synchronous breast cancer Introduction: Bilateral synchronous breast cancer (BSBC) has a variable incidence and conflicting data on prognosis. Our goal is to evaluate the characteristics and survival of patients with BSBC treated at Cancer Center of the Pontificia Universidad Catolica de Chile. Patients and Methods: Descriptive study. We identified patients treated between January 1999 and May 2013. We evaluated and compared characteristics from BSBC patients with a local cohort of non-synchronous breast cancer. Results: The incidence of BSBC was 1.8% (n = 28). Three patients were excluded because of missing data. Therefore we analyzed 25 patients (50 tumors). Median age: 50 years (33-84). The dominant tumors diagnosis was clinical in 47.6% of cases, and imaging in 90.5% of the contra-lateral non-dominant (p = 0.04). Average tumor size of invasive tumors was 2.5 cm for dominant tumor versus 1.7 cm for the non-dominant (p = 0.02). 81.4% of invasive tumors were estrogen receptor (ER) positive. Histological and subtype concordance between both tumors was 88% and 72% respectively. 54% of patients with BSBC were managed with total mastectomy versus 28.4% in the control group no BSBC (p = 0.0001). The estimated overall survival at 10 years was 76.5% in patients with no BSBC versus 62% in those with BSBC (p = 0.08). Conclusions: The BSBC is rare. Frequently they are ER positive tumors, mostly diagnosed through images and managed with less conservative surgery.

Introducción: El hallazgo de una neoplasia folicular por PAAF, obliga a realizar una tiroidectomía parcial o total, para definir la naturaleza maligna o benigna definitiva de la lesión tiroidea. Junto a este diagnóstico preoperatorio se identifican finalmente con alta frecuencia lesiones histológicas adicionales. Objetivo: Conocer y describir los hallazgos anatomopatológicos definitivos que se encuentran en tiroidectomías por neoplasias foliculares diagnosticadas por PAAF. Materiales y Métodos: Revisión transversal de las biopsias definitivas de 133 pacientes sometidos a tiroidectomía total entre 2003 y 2009, que cumplieron los requisitos establecidos para evaluar la histología definitiva del nódulo puncionado y de la glándula tiroides completa. Resultados: En el 33,1% de los pacientes el diagnóstico definitivo del nódulo puncionado fue efectivamente una neoplasia folicular (adenoma en el 26,3% y cáncer en el 6,8%). El 51,9% correspondió a hiperplasia folicular y el 8,3% otro cáncer. La prevalencia de malignidad final en la glándula completa fue de un 29,3%. Conclusiones: Siendo la indicación de tiroidectomía en estos pacientes un tratamiento y procedimiento diagnóstico aceptado y necesario, se concluye que la alta prevalencia de lesiones malignas (29,3%) tanto en el nódulo puncionado como, adicionalmente, en el resto de la glándula, reforzaría la necesidad de este tratamiento quirúrgico.

Transumbilical sleeve gastrectomy. Experience in six patients Background: The transumbilical route can be used to perform sleeve gastrectomies. Aim: To report the experience with transumbilical sleeve gastrectomy. Material and Methods: A prospective protocol of transumbilical sleeve gastrectomy was applied among patients with a body mass index of 36 kg/m 2 or less, and a distance between the xiphoid process and the umbilicus of less than 22 cm. Results: Six female patients, with a body mass index between 32.5 and 35.3 kg/m 2 have been operated. The operative time ranged from 90 to 170 min. An additional 5 mm trochar was required in the fi rst two patients. The postoperative barium swallow showed a good distal passage and the absence of stenosis, residual fundus or fi ltrations in all patients. No patient had complications. Conclusions: Transumbilical sleeve gastrectomy is feasible among patients with a body mass index of less than 36 kg/m 2 .

Background: Since 1975, the Durie-Salmon staging system (D&S) has been a widely accepted prognostic classification of multiple myeloma (MM) patients. Recently, the new International Staging System (ISS) was developed using only the values of albumin and betaZ-microglobulin. Aim: To compare survival of patients with MM treated in six medical centers in Chile according to the D&S system and the new ISS. Material and methods: Retrospective analysis of demographic information, clinical features and survival rate of patients treated between 1998 and 2002, and grouped according to both systems. Results: Information of 81 patients aged 38 to 90 years (43 women) was retrieved. According D&S system 11% were in stage I 12% in stage II and 73% in stage III According to ISS, 34% were in stage I 35% in stage II and 31% in stage III Median of survival of all patients was 32 months. Both staging systems had a prognostic value. However, median survival for the three stages of the ISS system was significantly different (67, 29 and 14 months in stages III and III, respectively, p =0.02). Patients in advanced stages II and III of the ISS, had a higher frequency of anemia, hypercalcemia, renal failure and hypoalbuminemia. In stages II and III of ISS the presence of renal failure was associated with a non significantly different lower survival. Conclusions: The ISS is a simple and effective grouping method for patients with MM, that predicts survival. The presence of renal insufficiency might identify a subgroup of patients included in stages II and III of ISS with a higher mortality (Rev Méd Chile 2008; 136: 7-12)

Background: Breast cancer will develop in one out of ten women during their lifetime. Early diagnosis has increased in recent years. Aim: To describe a population of women with breast cancer stage T1N0M0. To analyze radiation therapy toxicity and to evaluate treatment results. Material and methods: Retrospective review of the medical records of 125 women (aged 35 to 80 years) with breast cancer T1N0M0, that were treated between January 1997 and May 2004, with breast conserving surgery and postoperative radiation therapy at an oncology center. Patients lost from follow up were contacted by telephone. Results: An abnormal screening mammography was the reason for consult in 62% of cases. The average tumor size was 11.6 mm. Tumors detected with screening mammogram were smaller than those detected on physical exam. The most common radiotherapy toxicity was erithema, which was severe in 2.5% of cases. No patient had to stop the radiation treatment due to toxicity. One patient developed arm edema. Tamoxifen was prescribed for 5 years to 80% of patients and 17 patients received chemotherapy. After an average follow up of 40 months, no patient has developed local breast relapse, three patients developed contralateral breast cancer and three developed distant metastasis. Two patients died from breast cancer. Disease free survival was 95%. Conclusions: Radiotherapy was well tolerated and had excellent local control. Screening mammography detects small tumors. Survival is excellent for early stage breast cancer (Rev Med Chile 2007; 135: 427-35). (Key-words: Breast neoplasms; Mammography; Radiotherapy; Tamoxifen)

Background: Hodgkin lymphoma is a highly curable disease. Aim: To evaluate the clinical characteristics and the treatment results of Hodgkin lymphoma patients of the National Cancer Program in Chile. Patients and methods: Prospective assessment of 682 patients treated in 18 adult cancer centers. Progression free survival (PFS) and overall survival (OS) were calculated. Median follow up was 127, 95, 87, 72 and 50 months for C-MOPP, radiotherapy (RT), C-MOPP/ABV, NOVP and ABVD, respectively. Results: Median age was 37 years (15-84). Nodular sclerosis and mixed cellularity were equally expressed. Advanced stages (III & IV) were present at diagnosis in 61% of cases. Age over 40 was an adverse prognostic factor (p

Introduccion. La enfermedad de Charcot-Marie-Tooth (CMT) es la neuropatia hereditaria sensitivomotora mas frecuente. Avances en el diagnostico molecular han incrementado las posibilidades diagnosticas de estos pacientes. Pacientes y metodos. Estudio retrospectivo de 36 casos pediatricos diagnosticados de CMT en un centro terciario en el periodo 2003-2015. Resultados. Se identificaron 16 pacientes con CMT1A por una duplicacion en PMP22; dos casos se diagnosticaron de neuropatia hereditaria con predisposicion a paralisis por presion, uno de ellos con una mutacion puntual en PMP22; un varon con un fenotipo leve desmielinizante se diagnostico de CMTX1 por mutacion en GJB1; un paciente con una hipotonia paralitica en el nacimiento y un patron axonal por mutacion en MFN2; un paciente de origen rumano se diagnostico de CMT4D por una mutacion en el gen NDRG1; una paciente con una atrofia muscular espinal congenita distal con neuropatia axonal leve asociada por mutacion en el gen TRPV4; tres ninas de una familia consanguinea de etnia gitana se diagnosticaron de CMT axonal con descargas neuromiotonicas por una mutacion en el gen HINT1; 12 pacientes no tienen diagnostico molecular actualmente, cuatro de ellos de etnia gitana. Conclusiones. CMT1A predomino en nuestra serie (44%), como corresponde a la bibliografia. Destacamos la descripcion de una paciente con una mutacion en TRPV4 recientemente descrita como causa de CMT2C y tres casos de una misma familia consanguinea gitana con la misma mutacion en el gen HINT1 recientemente publicada como causa de neuropatia axonal con neuromiotonia autosomica recesiva (AR-CMT2). El porcentaje de casos sin diagnostico molecular es similar al de grandes series europeas.

SUMMARY We present two cases of splenic artery aneurysm rupture in pregnancies of 35 and 22 weeks of gestational age. One patient died because of massive hemoperitoneum.

Background: Thyroid microcarcinoma is a tumor of 10 mm or less, that should have a low risk of mortality. However, a subgroup of these carcinomas is as aggressive as bigger tumors. Aim: To describe the pathological presentation of these tumors, and compare them with larger tumors. Material and methods: All pathological samples of thyroid carcinoma that were obtained between 1992 and 2003, were studied. In all biopsies, the pathological type, tumor size, the focal or multifocal character, the presence of lymph node involvement and the presence of lymphocytic thyroiditis or thyroid hyperplasia, were recorded. Results: One hundred eighteen microcarcinomas and 284 larger tumors were studied. The mean age of patients with microcarcinoma and larger tumors was 42.7±14 and 49.3±16 years respectively (p

Introduccion. Los astrocitomas subependimarios de celulas gigantes (SEGA) se presentan en el 5-20% de los pacientes con complejo esclerosis tuberosa (CET) y son los tumores cerebrales mas comunes en el CET. Son tumores benignos, de estirpe glioneural, que se desarrollan fundamentalmente en las primeras dos decadas de la vida, en general cercanos al foramen de Monro, y pueden ocasionar hidrocefalia e hipertension intracraneal. Constituyen la principal causa de muerte en el CET. Recientemente, los inhibidores mTOR han demostrado ser una alternativa terapeutica a la reseccion quirurgica. Objetivo. Describir nuestra experiencia con everolimus para el tratamiento de pacientes con SEGA y CET. Pacientes y metodos. Estudio prospectivo de la respuesta de los pacientes con CET y al menos un SEGA en crecimiento. Resultados. Recibieron tratamiento tres mujeres y tres varones con una edad media de 12,3 anos. Un paciente habia sido previamente intervenido quirurgicamente por SEGA con hidrocefalia. El diametro maximo medio del SEGA al inicio del tratamiento era de 15,3 mm (rango: 11,3-24,8 mm). Se inicio tratamiento con everolimus, 2,5 mg/dia por via oral en pacientes con superficie corporal 1,2 m2. Dos pacientes presentaron hipertrigliceridemia; uno, anorexia; otro, un afta; y una paciente, amenorrea. La reduccion media del volumen del SEGA a los tres meses de tratamiento fue del 46%, y la reduccion se mantuvo estable en controles posteriores (6-25 meses). Conclusiones. El tratamiento con everolimus disminuye el tamano de los SEGA asociados a CET con un perfil de seguridad adecuado, y constituye una alternativa a la cirugia en casos seleccionados.

INTRODUCTION: To be able to treat prolonged epileptic crises practical, safe and effective rescue medication is needed. Today, the standard treatment in community healthcare is rectal diazepam. The introduction of a buccal solution of midazolam opens up a new perspective in their treatment. AIMS: To evaluate the cost-effectiveness of buccal midazolam with respect to rectal diazepam for children diagnosed with epilepsy who present prolonged convulsive seizures in the community setting in Spain. MATERIALS AND METHODS: The study produces a model of its cost-effectiveness from the perspective of the Spanish National Health System (SNS), with the outcomes presented in terms of cost-quality adjusted life years. Data were collected from different sources, including estimations regarding the clinical effectiveness from a clinical trial, from a Delphi panel in Spain and from a national survey carried out on parents of children with epilepsy in order to determine the current practices. RESULTS: Treatment with buccal midazolam produces a saving in costs in comparison to rectal diazepam. The amount saved by the Spanish SNS comes to 5,484 euros per patient per year. Treatment with buccal midazolam offers an improved health-related quality of life. This, together with the savings in costs, means that there is a dominance of buccal midazolam over rectal diazepam in all the settings that have been examined. CONCLUSIONS: The results obtained with the model show that buccal midazolam is more cost-effective than rectal diazepam due to a reduction in the need to call out ambulances and for stays in hospital, as well as an improved health-related quality of life.

Background: Little information is available in Chile about hepatitis C virus (HCV) in hematological and oncohematological patients. Aim: To evaluate the prevalence of hepatitis C virus markers in a group of hematological and oncohematological pediatric patients seen at Valdivia Regional Hospital. Patients and methods: Antibodies against virus C, determined by ELISA and viral RNA, determined using RT-polymerase chain reaction, were measured in 54 blood samples from children with hematological diseases (34 with Acute Lymphoblastic Leukaemia, 4 with Hodgkin Diseases, 4 with Haemolytic Anemia, 5 with Sarcomas, 2 with Non-Hodgkin Lymphoma, 2 with Thrombocytopenic Purpura, 1 with an Ependimoma, one with a Wilms Tumor and 1 with a Von Willebrand Disease). Results: All samples were negative for antibodies against hepatitis C virus. Viral RNA was found in four children, all with a diagnosis of acute lymphoblastic leukemia and who received chemotherapy and multiple transfusions. Conclusions: The prevalence of Viral RNA for hepatitis C virus in oncohematological patients in our study is high and associated with the use of chemotherapy and multiple transfusions (Rev Med Chile 2001; 129: 18-22)

Invasive fungal infections are an increasingly common problem in patients with cancer and other vulnerable groups. We report a case of hepatosplenic hialohifomycosis probably by Aspergillus sp. In a patient with acute leukemia, and prolonged neutropenia, treated with corticosteroids and broad spectrum antibiotics. A review concerning diagnosis, clinical course and treatment of this condition is presented. (Rev Med Chile 2000; 128: 641-6).

Introduccion. El sindrome de Aicardi es un trastorno presumiblemente dominante ligado al cromosoma X, que afecta en exclusiva a mujeres, clasicamente definido por la triada de agenesia del cuerpo calloso, lagunas coriorretinianas y espasmos infantiles, letal en varones en la vida intrauterina. Pacientes y metodos. Estudio descriptivo retrospectivo de pacientes diagnosticadas y seguidas hasta el final de la edad pediatrica de sindrome de Aicardi en dos hospitales universitarios durante un periodo de 29 anos. Resultados. Encontramos siete ninas, todas desarrollaron espasmos infantiles antes de los 6 meses de edad. La evolucion fue a espasmos mas alla de la infancia (n = 2), a epilepsia parcial farmacorresistente (n = 3) y a epilepsia parcial bien controlada (n = 1). Seis casos presentaron retraso mental grave-profundo, y uno, moderado-grave. Fallecieron dos ninas a los 2 y 6 anos. En todas, los estudios de neuroimagen mostraron agenesia del cuerpo calloso, quistes intracraneales y malformaciones del desarrollo cortical cerebral, ademas de lesiones oftalmologicas: lagunas coriorretinianas (n = 7), anoftalmia/microftalmia (n = 4) y coloboma del nervio optico (n = 3). Otros hallazgos fueron cardiopatia congenita, anomalias costovertebrales, linfangioma cervical e hipertricosis focal. Conclusiones. El sindrome de Aicardi debe sospecharse en ninas con espasmos infantiles y agenesia del cuerpo calloso. Deben descartarse en estas pacientes las alteraciones oftalmologicas, las anomalias de la migracion y organizacion neuronal y los quistes intracraneales. El pronostico es grave por su elevada morbimortalidad y por la frecuente evolucion a epilepsia refractaria y retraso mental grave.

Thirty two patients with active Crohn's disease were included in a controlled randomised trial to determine the efficacy and safety of polymeric enteral nutrition compared with steroids, to achieve and maintain clinical remission. The polymeric diet was administered through a fine bore nasogastric tube by continuous, pump assisted infusion (2800 (SEM 120) kcal/day). The steroid group received 1 mg/kg/day of prednisone. Both treatments were effective in inducing clinical remission: 15 of the 17 patients given steroids and 12 of the 15 patients assigned to the polymeric diet went into clinical remission (defined by a Van Hees index < 120) within four weeks of treatment. The percentage reduction of the Van Hees index was 34.8 (4.9)% for steroids and 32.3 (5)% for enteral nutrition (mean difference 2.5%; 95% CI--11.8% to +16.8%). Mean time elapsed to achieve remission was similar in both groups (2.0 (1) v 2.4 (1.2) weeks). Tolerance of the enteral diet was excellent. Four patients in the steroid group had mild complications attributable to this treatment. Ten patients (66.6%) in the steroid group and five (41.6%) in the enteral nutrition group relapsed within a year of discharge, but no differences were found in the cumulative probability of relapse during the follow up period. These results suggest that polymeric enteral nutrition is as safe and effective as steroids in inducing short term remission in active Crohn's disease.

Objetivo. Elaborar una guia de practica clinica basada en la evidencia cientifica que aborde las cuestiones basicas acerca del tratamiento de la epilepsia. Desarrollo. Un comite de 11 expertos pertenecientes a la Sociedad Andaluza de Epilepsia, en el que se incluian seis neurologos, tres neuropediatras, un neurocirujano y una farmacologa, todos con especial dedicacion y competencia en epilepsia, realizo una revision bibliografica exhaustiva en busca de las evidencias disponibles relacionadas con el tema propuesto. Se utilizaron las siguientes bases de datos: MEDLINE, Cochrane Library y bases de datos de guias de practica clinica (National Guideline Clearinghouse, National Institute of Clinical Excellence y Guias Clinicas de la Academia Americana de Neurologia). La guia se estructuro en siete secciones y se dividio para su publicacion en cuatro partes. Se identificaron 187 documentos relevantes, de los que se extrajeron un total de 63 evidencias cientificas y 91 recomendaciones terapeuticas, que se tabularon y clasificaron segun los criterios de elaboracion de Guias de Practica Clinica de la Federacion Europea de Sociedades Neurologicas. Conclusion. Los resultados de esta revision proveen unas guias de practica clinica basadas en la evidencia cientifica utiles, sencillas y aplicables en los diferentes niveles asistenciales.

Objetivo. Elaborar una guia de practica clinica basada en la evidencia cientifica que aborde las cuestiones basicas acerca del tratamiento de la epilepsia. Desarrollo. Un comite de 11 expertos pertenecientes a la Sociedad Andaluza de Epilepsia, en el que se incluian seis neurologos, tres neuropediatras, un neurocirujano y una farmacologa, todos con especial dedicacion y competencia en epilepsia, realizo una revision bibliografica exhaustiva en busca de las evidencias disponibles relacionadas con el tema propuesto. Se utilizaron las siguientes bases de datos: MEDLINE, Cochrane Library y bases de datos de guias de practica clinica (National Guideline Clearinghouse, National Institute of Clinical Excellence y Guias Clinicas de la Academia Americana de Neurologia). La guia se estructuro en siete secciones y se dividio para su publicacion en cuatro partes. Se identificaron 187 documentos relevantes de los que se extrajeron un total de 63 evidencias cientificas y 91 recomendaciones terapeuticas, que se tabularon y clasificaron segun los criterios de elaboracion de Guias de Practica Clinica de la Federacion Europea de Sociedades Neurologicas. Conclusion. Los resultados de esta revision proveen unas guias de practica clinica basadas en la evidencia cientifica utiles, sencillas y aplicables en los diferentes niveles asistenciales.

The relationship between fluid filtration rate (FFR) and plasma colloid osmotic pressure (COP) was studied in isolated rabbit lungs perfused at constant flow. A 50% to 60% decrease in COP increased FFR more when left atrial pressure (LAP) was 12.8 to 15 mm Hg than when it was 7.5 to 9 mm Hg. When LAP was zero, FFR did not increase until COP had been reduced from 18.8 to 7 mm Hg. The increase in FFR produced by step increases in LAP was eliminated by similar increases in COP.

Introducción: La incidencia de granulomas postoperatorios en el lecho tiroideo es alta y dificulta el diagnóstico diferencial ecográfico de posibles recidivas locales en cáncer. La utilización de bisturí ultrasónico disminuiría la incidencia de estos granulomas en comparación con métodos de sutura y hemostasia tradicionales con ligaduras. Objetivo: Evaluar si el uso de bisturí ultrasónico disminuye la incidencia de granulomas postoperatorios en el lecho tiroideo, que se detectan ecográficamente. Métodos: Retrospectivamente se revisaron los hallazgos ecográficos postoperatorios de 57 pacientes evaluables con cáncer de tiroides operados entre marzo y septiembre de 2010. En 46 pacientes se utilizó ligaduras (lino o seda) y en 11, bisturí ultrasónico. Resultados: De los 57 pacientes, 47 fueron mujeres. La edad promedio fue 44 años. La incidencia de granulomas fue 36,3% (IC95% de 7,9%-64,7%) en los pacientes en que se utilizó bisturí ultrasónico y 36,9% (IC95% de 23,0%-50,9%) en los pacientes en que se utilizó ligadura convencional. No hubo diferencia estadística (p = 0,974). Conclusiones: El uso de bisturí ultrasónico no disminuyó la incidencia de granulomas del lecho tiroideo, comparado con suturas convencionales. De esta forma, este recurso no aportaría beneficio en la diferenciación ecográfica de nódulos en el lecho tiroideo que pueden corresponder a recidivas tumorales o granulomas cicatriciales.