Pediatric cutaneous mucormicosis.

A 9-year-old boy diagnosed with acute myeloblastic leukemia and undergoing chemotherapy, was admitted with febrile neutropenia. During his admission, several violaceous plaques appeared on the upper extremities and anterior left hemithorax, which worsened and acquired a necrotic center. We performed a biopsy and histology showed a cutaneous infarction at the dermoepidermal and subcutaneous level. We observed abundant wide hyphae with right-angled branching and a culture isolated Rhizopus oryzae. A plastic surgery consultant performed a surgical debridement of the lesions and treatment was started with intravenous amphotericin B. The patient did well on treatment and after almost a month of hospitalization, he was discharged with oral posaconazole. Mucormycosis is an opportunistic fungal infection associated with immunosuppression, particularly involving prematurity and hematological diseases in the pediatric age group. Multiple lesions, as in our case, are infrequent. The clinical presentation is variable. Direct smear or histological observation is the quickest diagnostic technique whereas culture is the most definitive. The combination of surgical debridement and amphotericin B is the treatment with the highest survival rates.

Topical Immunotherapy for Actinic Keratosis and Field Cancerization.

This comprehensive review delves into various immunotherapeutic approaches for the management of actinic keratoses (AKs), precancerous skin lesions associated with UV exposure. Although there are treatments whose main mechanism of action is immune modulation, such as imiquimod or diclofenac, other treatments, apart from their main effect on dysplastic cells, exert some immunological action, which in the end contributes to their efficacy. While treatments like 5-fluorouracil, imiquimod, photodynamic therapy, and nicotinamide are promising in the management of AKs, especially in immunocompetent individuals, their efficacy is somewhat reduced in solid organ transplant recipients due to immunosuppression. The analysis extends to optimal combination, focusing on cryoimmunotherapy as the most relevant. New immunotherapies include resimiquimod, ingenol disoxate, N-phosphonacetyl-L-aspartate (PALA), or anti-PD1 that have shown promising results, although more studies are needed in order to standardize their use.

Cost-effectiveness analysis of the diagnosis of temporal arteritis.

Temporal arteritis (TA) is the most common form of systemic vasculitis. Its diagnosis is based on criteria proposed by the American College of Rheumatology (1990), and its treatment is high-dose corticosteroids. Our objective is to assess the cost of diagnosing TA, and secondarily, cost-effective analysis of different diagnostic strategies (clinical, biopsy, doppler ultrasound) and therapeutic strategies (corticosteroid suspension). MATERIAL AND METHOD: Observational, retrospective study has been carried out on patients with AT (2012-2021). Demographic data, comorbidities, signs and symptoms suggestive of AT were collected. AT was diagnosed with a score ≥ 3 according to American College of Rheumatoloy criteria (ACR-SCORE). The costs of diagnosis and treatment modification were analysed. RESULTS: Seventy-five patients have been included, median age 77 (46-87) years. Headache, temporal pain and jaw claudication were significant for the diagnosis of TA. Patients with a halo on Doppler ultrasound and a positive biopsy have significantly elevated ESR and CRP compared to patients who do not. The cost of the AT diagnosis was 414.7 euros/patient. If we use ACR-SCORE ≥ 3-echodoppler it is 167.2 є/patient (savings 59.6%) and ACR-SCORE ≥ 3-biopsy 339.75 є/patient (savings 18%). If the corticosteroid was removed and a biopsy was performed, 21.6 є/patient (94.7% savings), if the corticosteroid was removed and Doppler ultrasound was performed, 10.6 є/patient (97.4% savings). CONCLUSIONS: Headache, temporary pain and jaw claudication are predictors of AT. Elevated ESR and CRP are predictors of positive biopsy and presence of halo on ultrasound. The uses of ACR-SCORE ≥ 3 with Doppler ultrasound or biopsy, and with corticosteroid suspension, are cost-effective.

Efficacy of First-Line Treatment With Pertuzumab and Trastuzumab in Advanced Human Epidermal Growth Factor Receptor 2-Positive Breast Cancer in Routine Clinical Practice.

Background: The first-line treatment for human epidermal growth factor receptor 2-positive (HER2+) metastatic breast cancer (MBC) involves a combination of trastuzumab, pertuzumab, and a taxane (TPH). This study assessed the efficacy of trastuzumab and pertuzumab (PH) in routine practice, following the treatment protocols of Uruguay's National Resources Fund (FNR), akin to clinical trials. Methods: Patients with advanced MBC treated with PH between 2008 and 2022 per FNR protocols were evaluated. The Kaplan-Meyer method and log-rank test were utilized for analyzing overall survival (OS). Demographic and clinical variables, including age, menopausal status, and hormone receptors (HR), were analyzed. Results: The study included 318 PH-treated patients. The median age was 56 years, with 63.2% being postmenopausal and 60.4% HR and HER-2 positive. With a median follow-up of 17.2 months, the median OS was 29 months. OS varied based on HR status and the presence of metastases at different sites, significantly lower in patients with brain, cutaneous/subcutaneous, and pulmonary metastases. Additionally, OS was higher in patients treated at private institutions compared to public ones. Conclusions: This study demonstrates the disparity in oncological treatment efficacy between clinical trials and clinical reality in Uruguay, emphasizing the importance of authentic environment research for more representative and effective medicine in Latin America.

Implementing Standard Diagnosis and Treatment for Locally Advanced Breast Cancer Through Global Research in Latin America: Results From a Multicountry Pragmatic Trial.

PURPOSE: Breast cancer mortality rates in Latin America (LA) are higher than those in the United States, possibly because of advanced disease presentation, health care disparities, or unfavorable molecular subtypes. The Latin American Cancer Research Network was established to address these challenges and to promote collaborative clinical research. The Molecular Profiling of Breast Cancer Study (MPBCS) aimed to evaluate the clinical characteristics and treatment outcomes of LA participants with locally advanced breast cancer (LABC). PATIENTS AND METHODS: The MPBCS enrolled 1,449 participants from Argentina, Brazil, Chile, Mexico, and Uruguay. Through harmonized procedures and quality assurance measures, this study evaluated clinicopathologic characteristics, neoadjuvant chemotherapy response, and survival outcomes according to residual cancer burden (RCB) and the type of surgery. RESULTS: Overall, 711 and 480 participants in the primary surgery and neoadjuvant arms, respectively, completed the 5-year follow-up period. Overall survival was independently associated with RCB (worse survival for RCBIII-adjusted hazard ratio, 8.19, P < .001, and RCBII [adjusted hazard ratio, 3.69, P < .008] compared with RCB0 [pathologic complete response or pCR]) and type of surgery (worse survival in mastectomy than in breast-conserving surgery [BCS], adjusted hazard ratio, 2.97, P = .001). The hormone receptor-negative-human epidermal growth factor receptor 2-positive group had the highest proportion of pCR (48.9%). The analysis of the ASCO Quality Oncology Practice Initiative breast module revealed high compliance with pathologic standards but lower adherence to treatment administration standards. Notably, compliance with trastuzumab administration varied widely among countries (33.3%-88.7%). CONCLUSION: In LABC, we demonstrated the survival benefit of BCS and the prognostic effect of the response to available neoadjuvant treatments despite an important variability in access to key treatments. The MPBCS represents a significant step forward in understanding the real-world implementation of oncologic procedures in LA.

A Randomized Clinical Trial in a Public Health Context: Inclusion of Emotional Techniques in Group Therapy for Anxiety Disorders / Un estudio clínico aleatorizado en un contexto de sanidad pública: inclusión de técnicas emocionales en una terapia grupal para trastornos de ansiedad

Se realizó un ensayo clínico aleatorio con dos grupos de tratamiento: uno que recibió terapia cognitivo-conductual (TCC) y otro con la inclusión de técnicas emocionales (TCCE), ambos de 20 sesiones. La muestra consistió en 237 pacientes, todos ellos con diagnóstico principal de trastornos de ansiedad, y todos remitidos por sus médicos de cabecera. Hubo mejoras significativas en la sintomatología (rasgo de ansiedad, depresión, sintomatología clínica), pero la única diferencia significativa encontrada en la comparación intergrupal fue para la variable "satisfacción vital subjetiva" (p= .017), que fuemayor en el grupo de TCCE. Este grupo también mostró una mayor adherencia al programa de tratamiento (p= .019). Esto refuerza la conveniencia de incluir el tratamiento de terapia de grupo con componentes emocionales en los entornos de atención primaria, destacando la importancia de hacer hincapié en la autoestima.(AU)

A randomized clinical trial was carried out with two treatment groups: one receiving cognitive-behavioral therapy (CBT) and the other with the inclusion of emotional techniques (CEBT), both lasting 20 sessions. The sample consisted of 237 patients, all of them with principal diagnoses of anxiety disorders, and all referred by their general practitioners. There were significant improvements in symptomatology (anxiety trait, depression, clinical symptomatology), but the only significant difference found in the intergroup comparison was for the variable “subjective life satisfaction” (p = .017), which was greater in the CEBT group. This group also displayed better adherence to the treatment program (p = .019). This reinforces the case for including group therapy treatment with emotional components in primary care settings, highlighting the importance of emphasizing self-esteem.(AU)

Estudio coste-efectividad del diagnóstico de trombosis venosa profunda en el medio hospitalario / Cost-effectiveness study of deep venous thrombosis diagnosis at the hospital setting

Introducción y objetivos: la trombosis venosa profunda (tVP) supone una importante carga económica. nuestro objetivo primario es comparar dos estrategias diagnósticas en cuanto a costes y a efectividad: la prueba del dímero d a todos los pacientes con sospecha con condicionarla a la probabilidad clínica pretest. el secundario, analizar el coste del diagnóstico en nuestro centro y los factores asociados a su presentación. Material y métodos: estudio prospectivo de los pacientes atendidos con sospecha de tVP de extremidad inferior entre mayo y octubre de 2019. Se analizaron las variables de la escala de Wells, el teP asociado, el dímero d, el resultado del eco Doppler y los costes (atención en urgencias, el reactivo del dímero d y la realización de un eco Doppler, obtenidos del Boletín oficial de la comunidad y de la unidad de cobros del hospital). el análisis estadístico se realizó con SPSS, pruebas de χ2 y el test exacto de Fisher. Resultados: se estudiaron 249 pacientes. 116 (46,59 %) presentaron tVP. La edad media fue de 70 años (21-95). aquellos con tVP presentaron con más frecuencia: sexo masculino (52,6 % frente a 39,8 %, p = 0,04), cáncer (29,3 % frente a 16,5 %, p = 0,016), dolor (80,2 % frente a 45,1 %, p < 0,001), edema (93,1 % frente a 57,1 %, p < 0,001), empastamiento (72,4 % frente a 14,3 %, p < 0,001), teP (25,9 % frente a 13,5 %, p = 0,014), menor diagnóstico alternativo (0,9 % frente a 62,4 %, p < 0,001) y menor obesidad (7,8 % frente a 18,8 %, p = 0,011). el gasto generado fue de 192,49 euros por paciente. Para el objetivo primario se analizaron a 144 pacientes (aquellos con dímero d). La estrategia 1 generó un gasto de 190,41 euros por paciente, con una sensibilidad del 100 % y una especificidad del 7,1 %; la estrategia 2, 188,51 euros por paciente, con una sensibilidad del 88,3 % y una especificidad del 78,5 %. ambas estrategias son un 1 % y un 2 % más económicas que el gasto generado, respectivamente...(AU)

Introduction and objective: deep venous thrombosis (dVt) is a significant economic burden. the study primaryendpoint is to compare two diagnostic strategies in terms of cost and effectiveness: d-dimer to all patients withsuspected dVt vs conditioning it to the pre-test clinical probability; the secondary endpoint is to analyze the costof dVt diagnosis in our center and the factors associated with its presentation. Material and methods: this was a prospective study of patients with suspected dVt of lower extremities con-ducted between may and october 2019. the variables of the Wells scale, associated Pte, d-dimer levels, dopplerechocardiography and costs (emergency care, d-dimer and doppler echocardiography obtained from the regionofficial Bulletin and the hospital billing unit) were analyzed. the statistical analysis was performed with SPSS, thechi-square test, and Fisher's exact test. Results: a total of 249 patients were studied, 116 of whom (46.59 %) presented with dVt. the mean age was70 years (21-95). those with dVt were predominantly men (52.6 % vs 39.8 %; p = .04), had cancer (29.3 %vs 16.5 %, p = 0.016), pain (80.2 % vs 45.1 %; p < .001), edema (93.1 % vs 57.1 %, p < .001), slurring (72.4 % vs14.3 %; p < .001), Pte (25.9 % vs 13.5 %, p = .014), less alternative diagnosis (0.9 % vs 62.4 %; p = .001) and lessobesity (7.8 % vs 18.8 %; p = .011). the cost generated was € 192.49 per patient. Regarding the primary endpoint,144 patients (those with d-dimer) were analyzed. Strategy #1 resulted in a cost of €190.41 per patient with100 % sensitivity and 7.1 % specificity; strategy # 2, resulted in a cost of €188.51/patient, with 88.3 % and 78.5 %sensitivity and specificity rates, respectively. Both strategies are 1 % and 2 % cheaper than the cost generated.Conclusion: the application of diagnostic algorithms for suspected dVt is cost-effective, so its use should begeneralized.(AU)

Expresión tumoral de BRCA1 y resultados clínicos en pacientes uruguayas diagnosticadas de cáncer de mama antes de los 40 años / BRCA1 tumor expression and clinical results in uruguayan patients diagnosed with breast cancer before the age of 40 years old / Expressão tumoral de BRCA1 e resultados clínicos em pacientes uruguaias com diagnóstico de câncer de mama antes dos 40 anos

Resumen: Las mutaciones de BRCA1 son raras en el cáncer de mama (CM) esporádico; sin embargo, su expresión a nivel tumoral se encuentra disminuida o ausente en 30%-50% de los casos. Objetivo: valorar la expresión tumoral de BRCA1 por inmunohistoquímica (IHQ) en mujeres uruguayas diagnosticadas de CM antes de los 40 años. Material y método: se incluyeron pacientes diagnosticadas de CM antes de los 40 años. Se utilizaron los anticuerpos monoclonales anti-BRCA1 MS110 contra el extremo N-terminal y GLK-2 contra el extremo C-terminal. Se calculó la sobrevida global (SVG) y la sobrevida libre de enfermedad (SVLE), para la construcción de las curvas se utilizó el método de Kaplan-Meier y la diferencia de sobrevida se evaluó mediante el test de log rank. Resultados: se incluyeron 40 pacientes, la SVG y la SVLE a cinco años fueron de 73% y 60% respectivamente. La expresión de BRCA1 mediante GLK-2 fue <10% en 16 de las 40 pacientes (40%). La SVG y la SVLE a cinco años para las pacientes con expresión <10% fue de 56% vs 85% para las pacientes con expresión >10% (p=0,015) y de 40% vs 72% (p=0,034) respectivamente. La expresión de BRCA1 mediante MS110 fue <10% en 11 de las 40 pacientes (27,5%). No se encontraron diferencias en la SVG ni en la SVLE a cinco años con este marcador. Conclusión: la pérdida de la expresión tumoral de BRCA1 determinada mediante GLK-2 se encontró en el 40% de las pacientes incluidas y se asoció a una menor SVG y SVLE, por lo que podría tener un valor pronóstico desfavorable en estas pacientes.

Summary: BRCA1 mutations are rare in sporadic breast cancer (CM), however their expression at the tumor level is diminished or absent in 30-50% of cases. Objective: to assess the tumor expression of BRCA1 using immunohistochemistry (IHC) in Uruguayan women diagnosed with BC before the age of 40 years. Material and methods: patients diagnosed with BC before the age of 40 between. The antibodies used were anti BRCA1 MS110 monoclonal antibodies against the N-terminal end and GLK-2 against the C-terminal. Overall survival (OS) and disease free survival (DFS) were calculated; the curves were developed using the Kaplan-Meier method and the difference in survival was evaluated through the log rank test. Results: the average age of the 40 patients included was 36 years. The 5-year OS and DFS were 73% and 60% respectively. The expression of BRCA1 with GLK-2 was <10% in 16 of the 40 patients included (40%). The 5-year OS and DFS for patients with <10% expression was 56% vs. 85% for patients with >10% (p=0.015) and 40% vs. 72% (p = 0.034) respectively. The expression of BRCA1 by MS110 was <10% in 11 of the 40 patients included (27.5%). No differences were found in the 5-year OS or DFS based on the expression of this marker. Conclusion: The loss of BRCA1 expression using GLK-2, which suggests the presence of a truncated protein, was associated with a statistically significantly lower OS and DFS, that the decrease in the BRCA1 protein as determined by GLK2 has an unfavorable prognostic value for young patients with BC.

Resumo: As mutações de BRCA1 são raras no câncer de mama (CM) esporádico; no entanto sua expressão no nível tumoral está diminuída ou ausente em 30-50% dos casos. Objetivo: avaliar a expressão tumoral de BRCA1 por imuno-histoquímica (IHQ) em mulheres uruguaias com diagnóstico de CM antes dos 40 anos. Material e métodos: foram incluídas pacientes com diagnóstico de CM antes dos 40 anos. Foram utilizados anticorpos monoclonais anti BRCA1 MS110 contra o extremo N-terminal e GLK-2 contra o extremo C-terminal. A sobrevida global (SVG) e a sobrevida livre de enfermidade (SVLE) foram calculadas; o método de Kaplan-Meier foi utilizado para a construção das curvas e a diferença de sobrevida foi avaliada usando o teste de log-rank. Resultados: foram incluídas 40 pacientes; a SVG e a SVLE aos 5 anos foram 73% e 60% respectivamente. A expressão de BRCA1 mediante GLK-2 foi <10% em 16 das 40 pacientes (40 %). A SVG e a SVLE aos 5 anos para as pacientes com expressão £10% foi 56% vs. 85% para as pacientes com expressão >10% (p=0,015) e 40% vs. 72% (p=0,034) respectivamente. A expressão de BRCA1 mediante MS110 foi =10% em 11 das 40 pacientes (27,5%). Não foram encontradas diferenças na SVG nem na SVLE aos 5 anos com este marcador. Conclusão: foi encontrada perda da expressão tumoral de BRCA1 determinada por GLK-2 em 40% das pacientes incluídas e foi associada a uma menor SVG e SVLE, o que poderia ter um valor prognóstico desfavorável nestas pacientes.

Análisis coste/efectivo del diagnóstico de la arteritis de la temporal / Cost-effectiveness analysis of the diagnosis of temporal arteritis

La arteritis de la temporal (AT) es la forma más frecuente de vasculitis sistémica, su diagnóstico está basado en criterios propuestos por el Colegio Americano de Reumatología (1990), y su tratamiento son corticoides a dosis elevadas. Nuestro objetivo es valorar el gasto del diagnóstico de la AT, y secundariamente análisis coste/efectivo de distintas estrategias diagnósticas (clínica, biopsia, eco-Doppler) y terapéuticas (suspensión del corticoide). Material y método: Estudio observacional, retrospectivo de pacientes con AT (2012-2021). Se recogieron datos demográficos, comorbilidades, signos y síntomas sugestivos de AT. Se diagnosticó AT con una puntuación ≥3 según los criterios del American College of Reumatology (ACR-SCORE). Se analizaron los gastos del diagnóstico y modificación de tratamiento. Resultados: Setenta y cinco pacientes, mediana edad 77 (6-87) años. Cefalea, dolor temporal y claudicación mandibular fueron significativos para el diagnóstico de AT. Los pacientes con halo en eco-Doppler y biopsia positiva, presentaron elevación de VSG y PCR de forma significativa en comparación con los pacientes que no. El gasto diagnóstico de AT fue de 414,7€/paciente. Si empleamos ACR-SCORE≥3-eco-Doppler serían 167,2€/paciente (ahorro del 59,6%) y ACR-SCORE≥3-biopsia 339,75€/paciente (ahorro del 18%). Si se retiraba corticoide y se realizaba biopsia hubiesen sido 21,6€/paciente (ahorro del 94,7%), si se retiraba corticoide y se realizaba eco-Doppler hubiesen sido 10,6€/paciente (ahorro del 97,4%). Conclusiones: Cefalea, dolor temporal y claudicación mandibular son predictores de AT. La elevación de VSG y PCR son predictores de biopsia positiva y presencia de halo en la ecografía.El empleo de ACR-SCORE≥3 con eco-Doppler o con biopsia, y con suspensión del corticoide son coste/efectivos.(AU)

Temporal arteritis (TA) is the most common form of systemic vasculitis. Its diagnosis is based on criteria proposed by the American College of Rheumatology (1990), and its treatment is high-dose corticosteroids. Our objective is to assess the cost of diagnosing TA, and secondarily, cost-effective analysis of different diagnostic strategies (clinical, biopsy, Doppler ultrasound) and therapeutic strategies (corticosteroid suspension).Material and method: Observational, retrospective study has been carried out on patients with TA (2012–2021). Demographic data, comorbidities, signs and symptoms suggestive of TA were collected. TA was diagnosed with a score ≥3 according to American College of Rheumatoloy criteria (ACR-SCORE). The costs of diagnosis and treatment modification were analysed. Results: Seventy-five patients have been included, median age 77 (46-87) years. Headache, temporal pain and jaw claudication were significant for the diagnosis of TA. Patients with a halo on Doppler ultrasound and a positive biopsy have significantly elevated ESR and CRP compared to patients who do not.: The cost of the TA diagnosis was 414.7 euros/patient. If we use ACR-SCORE≥3-echodoppler it is 167.2 €/patient (savings 59.6%) and ACR-SCORE≥3-biopsy 339.75 €/patient (savings 18%). If the corticosteroid was removed and a biopsy was performed, 21.6 €/patient (94.7% savings), if the corticosteroid was removed and Doppler ultrasound was performed, 10.6 €/patient (97.4% savings).Conclusions: Headache, temporary pain and jaw claudication are predictors of TA. Elevated ESR and CRP are predictors of positive biopsy and presence of halo on ultrasound. The uses of ACR-SCORE≥3 with Doppler ultrasound or biopsy, and with corticosteroid suspension, are cost-effective.(AU)

GNAO1: un nuevo gen a considerar en la distonía temprana de la infancia / GNAO1: a new gene to consider on early-onset childhood dystonia

No disponible

Características clínico-patológicas y evolución del cáncer de mama en mujeres uruguayas jóvenes / Clinical and pathological characteristics of breast cancer in young uruguayan women

Introducción: en Uruguay el cáncer de mama (CM) es la principal causa de muerte por esta afección en la mujer. Aproximadamente 5,4% de los casos se diagnostican en menores de 40 años, es decir, en mujeres en edad reproductiva y laboralmente activas. Objetivo: investigar la frecuencia, características clínico-patológicas y evolución de pacientes uruguayas diagnosticadas con CM antes de los 40 años y su sobrevida de acuerdo al subtipo biológico. Material y método: se recolectaron datos relacionados con las características clínico-patológicas y la evolución de pacientes menores de 40 años tratadas por CM en el período comprendido entre el 1º de enero de 2006 y 31 de diciembre de 2012 asistidas en las instituciones participantes. Se calculó la sobrevida global (SVG) y la sobrevida libre de enfermedad (SVLE) para todas las pacientes, globalmente, y según el subtipo biológico. Resultados: se incluyeron 107 pacientes; edad mediana: 35 años (rango 24 a 39 años); las características clínico-patológicas fueron: carcinoma ductal: 89,7%; GH 2-3: 93,5%; estadio: II-III: 75%; metástasis axilares: 57%; HER2- RE/RP+ 53%; HER2+ 24,5%, y triple negativas (TN) 22,5%. El 17% de las pacientes presentaron antecedentes familiares (AF) significativos y la totalidad realizaron los tratamientos según pautas vigentes. La SVG y la SVLE a cinco años para la totalidad de las pacientes fueron 79% y 72%, respectivamente. La SVG y la SVLE fueron 97% y 90%, respectivamente, para las pacientes ER/PR+/HER2-; de 54% y 49% para las HER2+, y de 60% y 20% para las TN. Las curvas de SVLE fueron similares para las pacientes TN y HER2+, mientras que las pacientes ER/PR+/HER2- tuvieron una mayor SVG y SVLE (Log Rank, p < 0,0001). Conclusiones: las pacientes uruguayas diagnosticadas de CM antes de los 40 años incluidas tuvieron una SVG y una SVLE menor a la reportada en pacientes de la población general y de mayor rango etario. Si bien la peor evolución se ha vinculado al retraso en el diagnóstico, la mayoría de nuestras pacientes fueron diagnosticadas en estadios localizados y la totalidad realizó los tratamientos según las pautas vigentes. Por otra parte, la proporción de subtipos desfavorables (TN y HER2+) fue mayor a lo reportado para mujeres de todas las edades con CM, por lo que su peor evolución podría estar relacionada con el perfil biológico.

Introduction: In Uruguay, breast cancer is the main cause of death for this condition. Approximately 5.4% of cases are diagnosed in women younger than 40 years old, in other words, in women in their reproductive age, when they may be part of the labor force. Objective: To investigate the frequency, clinical and pathological characteristics and evolution of Uruguayan patients who are diagnosed with breast cancer before they are 40 years old, and their survival according to the biological sub-type. Method: the data in connection with the clinical and pathological characteristics and the evolution of patients was collected for women younger than 40 years old who had been treated for breast cancer at the participating institutions between January 1, 20016 and December 31, 2012. Global survival and disease-free survival was calculated for all patients, globally and according to the biological sub-type. Results: 107 students were included in the study; median age: 35 years old, range (24 to 39 years old); clinical and pathological characteristics: ductal carcinoma: 89.7%; Grade 2-3: 93.5%; stage II-III: 75% axillary metastasis: 57%; HER2- ER/PR 53%; HER"+ 24.5% and triple negative 22.5%. 17% of patients evidenced significant family history, and all of them were treated according to protocols in force. Global survival and disease free-survival after five years was 79% and 72% respectively. Global survival and disease free-survival was 97% and 90% respectively for patients RE/RP+/HER2-; of 54% and 49% for HER2+, and of 60% and 20% for triple negative. Disease-free survival curves were similar for patients triple negative and HER2+, whereas patients RE/RP+/HER2-evidenced a greater global survival and disease-free survival (Log Rank, p ? 0,0001). Conclusions: Uruguayan patients diagnosed with breast cancer before the age of 40 years old included in the study evidenced a lower global survival and disease free-survival rate than that reported for patients of the general population and older than 40 years old. In spite of the fact that the worse evolution has been associated to delays in diagnostic, most patients were diagnosed in the localized stage and all of them were treated according to protocols in force. Likewise, the proportion of the unfavorable sub-types (triple negative and HER2+) was greater than that reported for women of all ages with breast cancer. Thus, the worse evolution could be associated with the biological profile.

Introdução: no Uruguai o câncer de mama (CM) é a principal causa de morte das mulheres por este tipo de patologia. Aproximadamente 5,4% dos casos são diagnosticados em mulheres com menos de 40 anos, ou seja, mulheres em idade reprodutiva e economicamente ativas. Objetivo: pesquisar a frequência, características clínico-patológicas e evolução de pacientes uruguaias diagnosticadas com CM antes dos 40 anos e sua sobrevida de acordo com o subtipo biológico. Material e método: foram coletados dados relacionados com as características clínico-patológicas e a evolução de pacientes com menos de 40 anos tratadas por CM no período 1º de janeiro de 2006 - 31 de dezembro de 2012 atendidas nas instituições participantes. A sobrevida global (SVG) e a sobrevida livre de doença (SVLE) foi calculada para todas as pacientes, e segundo o subtipo biológico. Resultados: 107 pacientes foram incluídas com idade mediana 35 anos (intervalo 24 a 39 anos); as características clínico-patológicas foram: carcinoma ductal: 89,7%; GH 2-3: 93,5%; estadio: II-III: 75%; comprometimento axilar: 57%; HER2- RE/RP+ 53%; HER2+ 24,5%, e triplo negativo (TN) 22,5%. 17% das pacientes apresentavam antecedentes familiares (AF) significativos e todas foram tratadas observando-se as pautas vigentes. A SVG e a SVLE aos cinco anos para o total de pacientes foram 79% e 72%, respectivamente. A SVG e a SVLE foram 97% e 90%, respectivamente, para as pacientes ER/PR+/HER2-; 54% e 49% para as HER2+, e 60% e 20% para as TN. As curvas de SVLE foram similares para as pacientes TN e HER2+, porém as pacientes ER/PR+/HER2- apresentaram SVG e SVLE maiores (Log Rank, p ? 0,0001). Conclusões: as pacientes uruguaias diagnosticadas com CM antes dos 40 anos incluídas neste estudo apresentaram SVG e SVLE menores às registradas para pacientes da população em geral e com idades superiores. Embora a pior evolução esteja vinculada ao diagnóstico tardio, a maioria das pacientes estudadas foi diagnosticada em estádios localizados e todas receberam tratamento de acordo com as pautas vigentes. Por outra lado, a proporção de subtipos desfavoráveis (TN y HER2+) foi maior ao informado para mulheres de todas as idades com CM, por isso uma pior evolução poderia estar relacionada com o perfil biológico.

Infección de prótesis total de rodilla por Mycobacterium fortuitum / Knee prosthetic-joint infection due to Mycobacterium fortuitum

No disponible

Impacto del grado de cumplimiento de un protocolo ERAS en la recuperación funcional después de cirugía colorrectal / ERAS protocol compliance impact on functional recovery in colorectal surgery

INTRODUCCIÓN: El grado de cumplimiento de los protocolos de Enhanced Recovery After Surgery (ERAS) es una medida de calidad del proceso, que además se asocia a mejores resultados. El objetivo del presente estudio es analizar la relación existente entre el grado de cumplimiento del protocolo, el estrés quirúrgico y la recuperación funcional. Se plantea como objetivo secundario, la identificación de factores independientes asociados a la recuperación funcional. MÉTODOS: Estudio retrospectivo observacional unicéntrico de pacientes sometidos a cirugía colorrectal programada dentro de un programa ERAS entre enero de 2017 y junio de 2018. Se analizó el grado de cumplimiento del protocolo porcentual y su relación con el estrés quirúrgico (definido por los niveles plasmáticos de proteína C reactiva al tercer día), y la recuperación funcional (definida por el cumplimiento de los criterios de alta el quinto día postoperatorio o antes). Se llevó a cabo un análisis multivariante de factores independientes asociados a recuperación funcional. RESULTADOS: Se analizaron 313 pacientes. Por cada punto porcentual de cumplimiento adicional del protocolo disminuye 1,46 mg/dL la proteína C reactiva del tercer día y aumenta un 7% la probabilidad de cumplir criterios de alta (p < 00,1 ambos). Los factores asociados a recuperación funcional fueron ASA III-IV (OR 0,26; 0,14-0,48), puntuación CR-POSSUM quirúrgico (OR 0,68; 0,57-0,83), movilización precoz (OR 4,22; 1,43-12,4) y retirada precoz de sonda vesical (OR 3,35; 1,79-6,27), todos ellos p < 0,001. CONCLUSIÓN: El aumento del grado de cumplimiento del protocolo ERAS en cirugía colorrectal, disminuye el estrés quirúrgico y acelera la recuperación funcional

INTRODUCTION: Compliance to ERAS protocols is a process quality measure that is associated to better outcomes. The main objective of this study is to analyze the association between protocol compliance, surgical stress and functional recovery. The secondary objective is to identify independent factors associated to functional recovery. METHODS: A prospective observational single-centre study was performed. Patients who had scheduled colorectal surgery within an ERAS program from January 2017 to June 2018 were included. We analysed the relationship between protocol compliance percentage and surgical stress (defined by C reactive protein [CRP] blood levels on postoperative 3rd day), and functional recovery (defined by the proportion of patients who meet the discharge criteria on the 5th PO day or before). Multivariate analysis was performed to asses independent factor associated to functional recovery. RESULTS: 313 were included. For every additional percentage point of compliance to the protocol 3rd day C reactive protein plasmatic level decreases 1,46 mg/dL and increases 7% the probability to meet the discharge criteria (p < 0.001 both). Independent factors associated to functional recovery were ASA III-IV (OR 0.26; 0.14-0.48), surgical CR-POSSUM score (OR 0.68; 0.57-0.83), early mobilization (OR 4.22; 1.43-12.4) and removal of urinary catheter (OR 3.35; 1.79-6.27), p < 0,001 each of them. CONCLUSION: Better copliance to ERAS protocol in colorectal surgery decreases surgical stress and accelerates functional recovery

Tratamiento con radioquimioterapia del cáncer de cuello uterino: resultados a largo plazo / Radiochemotherapy treatment of cervical cancer: long-term results

Introducción: la radioquimioterapia es una opción de tratamiento curativo del carcinoma de cérvix, particularmente en pacientes de medio hospitalario uruguayo cuyo diagnóstico se realiza en estadios localmente avanzados. El objetivo de este trabajo es analizar los resultados terapéuticos y la toxicidad crónica de dicho tratamiento en el Centro Hospitalario Pereira Rossell (CHPR). Método: se incluyeron 164 pacientes portadoras de carcinoma cérvico-uterino que completaron el tratamiento de radioquimioterapia entre junio de 2006 y noviembre de 2008. La radioterapia externa (RTE) consistió en irradiación pélvica (concomitante con cisplatino semanal) y braquiterapia (BT) útero-vaginal. Se calculó la dosis biológica efectiva para tumor, para recto y para vejiga. Se analizó la tasa de control locorregional y la sobrevida a cinco años, así como las complicaciones crónicas por el método de Kaplan-Meier. Resultados: la sobrevida global obtenida fue de 67% a cinco años, mostrando diferencias significativas entre el estadio II (78%) y el estadio III (49%) (Log-rank test, p = 0,0002). La tasa de complicaciones crónicas grado 3-4, según RTOG (Radiation Therapy Oncology Group), fue de 1,8% para las urinarias y 3,7% para las digestivas. El control local inicial fue de 89% y la persistencia lesional de 10,3%; recidiva locorregional (RL) en todo el período: 19,5%; metástasis con o sin RL: 10,3%. Conclusiones: se confirma en nuestro medio la eficacia terapéutica de la radioquimioterapia en cáncer de cérvix. La mayoría de las recidivas o persistencias fueron por falta de control locorregional luego del tratamiento inicial. El tratamiento fue bien tolerado, con bajo porcentaje de complicaciones crónicas, comparable con referencias internacionales.

Abstract Introduction: radiochemotherapy may be used to cure cervical cancer, particularly for patients treated in Uruguayan hospitals, whose diagnosis is made in locally advanced stages. The study aims to analyse therapy results and chronic toxicity of such treatment at the Pereira Rossell Hospital Center (CHPR). Method: 164 carriers of cervical-uterine cancer who completed the radiochemotherapy treatment between June 2006 and November 2008 were included in the study. External radiochemotherapy consisted in pelvic irradiation (in combination with weekly cisplatin) and uterus-vaginal brachytherapy. Effective biological doses for tumor were calculated, for the rectum and the bladder. Locoregional control rate and survival after 5 years, as well as chronic complications, were analysed using the Kaplan-Meier method. Results: global five-year survival rate was 67%, there being significant differences between stage II (78%) and stage III (49%) (Log-rank test, p = 0.0002). According to RTOG (Radiation Therapy Oncology Group) Grade 3/4 chronic complications rate was 1.8% for urinary complications and 3.7% for digestive complications. Initial local control was 89% and lesion persistence was 10.3%, locoregional recurrence (LR) throughout the period was 19.5%; metastases with and without LR was 10.3% Conclusions: therapeutic effectiveness of radiochemotherapy for to treat cervical cancer is confirmed in our context. In most cases recurrence or persistence resulted from lack of locoregional follow-up after initial treatment. Treatment was well tolerated, with low percentage of chronic complications, what is comparable to international literature.

Resumo Introdução: a radio-quimioterapia é uma opção de tratamento curativo do carcinoma de cérvix, particularmente em pacientes do meio hospitalar uruguaio cujo diagnóstico é feito em estádios localmente avançados. O objetivo deste trabalho é analisar os resultados terapêuticos e a toxicidade crônica deste tratamento no Centro Hospitalario Pereira Rossell (CHPR). Método: foram incluídas 164 pacientes portadoras de carcinoma cérvico-uterino que completaram o tratamento de radio-quimioterapia no período junho de 2006 - novembro de 2008. A radioterapia externa (RTE) foi feita por irradiação pélvica (concomitante com cisplatina semanal) e braquiterapia (BT) útero-vaginal. A dose biológica efetiva para tumor, reto e bexiga foi calculada. A taxa de controle loco-regional e a sobrevida aos cinco anos foram calculadas e também as complicações crônicas utilizando o método de Kaplan-Meier. Resultados: a sobrevida global obtida foi de 67% aos cinco anos, mostrando diferenças significativas entre o estádio II (78%) e o estádio III (49%) (Log-rank test, p = 0,0002). A taxa de complicações crônicas graus 3-4, de acordo com a RTOG (Radiation Therapy Oncology Group), foi 1,8% para as urinarias e 3,7% para as digestivas. O controle local inicial foi de 89% e a persistência da lesão de 10,3%; recidiva loco-regional (RL) em todo o período: 19,5%; metástases com ou sem RL: 10,3%. Conclusões: a eficácia terapêutica da radioquimioterapia no câncer de cérvix no nosso meio foi confirmada. A maioria das recidivas ou persistências foi devida a falta de controle loco-regional depois do tratamento inicial. O tratamento foi bem tolerado, com baixa porcentagem de complicações crônicas, comparável a referências internacionais.

Ataxia-telangiectasia like: una adolescente portadora de una nueva variante del gen MRE11A / No disponible

No disponible

La estructura familiar y los trastornos de la conducta alimentaria / Family structure and eating behavior disorders

Introducción. El estilo de vida moderno que se caracteriza por el culto al individualismo, el descrédito de la autoridad y la existencia de múltiples realidades, ha modificado la estructura de las familias. Esta estructura social impregna a las familias y la forma de enfermar de sus miembros, de forma que los TCA se convierten en una forma de enfermar típicamente posmoderna. Metodología. El objetivo es conocer la estructura sistémica y la vulnerabilidad de las familias, comparando 108 familias con TCA, con 108 sin patología. Se utilizó un cuestionarioadministrado mediante entrevista por personal entrenado. Resultados. Las familias TCA tienen una estructura distinta de las del grupo de control. Tienen más antecedentes psiquiátricos y escasas habilidades de afrontamiento. Sus jerarquías están poco definidas y el liderazgo es difuso, con normas imprevisibles y rígidas, existiendo más coaliciones intergeneracionales y menos alianzas. La relación entre los padres es distante o de enfrentamiento, y hacia sus hijos tienen actitudes complacientes y egoístas, con vínculos ambivalentes y poco afectuosos, que en el caso de las madres se manifiesta con ansiedad de separación y dependencia diádica. Las expectativas que tienen para su prole son o bien exigentes y poco realistas o bien despreocupadas, y menor control de su conducta, además de una peor organización de las comidas familiares. Conclusiones. Las diferencias estructurales que aparecen entre los dos grupos de familias parecen tener importancia en la aparición y mantenimiento de los TCAs, aunque posiblemente no sean su única causa. Los resultados indican estrategias para la intervención clínica en TCAs

Introduction. The modern way of life, characterized by the cult of individualism, discredited authority, and a proliferation of points of view about reality, has modified family structure. This social structure imbues families and the way that its members become ill, in such a way that eating behavior disorders (EDs) have become a typically postmodern way of becoming ill. Methodology. The aim is to understand the systemic structure and vulnerability of families by comparing 108 families with members who have ED to 108 families without pathology. A questionnaire administered by an interview with trained personnel was used. Results. Families with ED have a different structure from the families in the control group. They have more psychiatric history and poor coping skills. The family hierarchy is not clearly defined and the leadership is diffuse, with strict and unpredictable rules, more intergenerational coalitions, and fewer alliances. The relationship between the parents is distant or confrontational, and their attitudes towards their children are complacent and selfish, with ambivalent and unaffectionate bonds. In the case of mothers, this is manifested by separation anxiety and dyadic dependence. Their expectations concerning their offspring are either very demanding and unrealistic, or indifferent, and there is less control of their behavior, in addition to poor organization of the family meals. Conclusions. The structural differences between the two groups of families seem to be important for the occurrence and maintenance of EDs, although they may not be the only cause. The results suggest strategies for clinical intervention in EDs

Sífilis y embarazo: incidencia y evolución histórica en el área sur de Granada / Syphilis infection in pregnancy. Incidence and changing patterns in the south of Granada (Spain)

Objetivo: Evaluar la prevalencia de la infecciónpor sífilis en el embarazo y los resultados delmanejo de esta afección.Material y métodos: Revisión retrospectiva detodos los casos de sífilis y embarazo diagnosticadoy tratados entre enero de 1996 y diciembre de2006 en el Hospital Universitario San Cecilio deGranada.Resultados: La incidencia global de sífilis duranteel embarazo en nuestro medio en los 11 últimosaños es de 2,42 × 10–04 (7 casos), 3 de ellos en elúltimo año.Conclusiones: En nuestro medio, presentamos unaincidencia de sífilis durante el embarazo superior ala media de los países con nuestro nivelsocioeconómico, como EE.UU. con 1,1/100.000gestaciones, posiblemente debido a un incrementode la población inmigrante

Objective: To evaluate the prevalence of syphilisinfection in pregnancy and the results of themanagement of this disease.Material and methods: We performed aretrospective study of all cases of syphilis infectionin pregnancy diagnosed and treated betweenJanuary 1996 and December 2006 in the SanCecilio University Hospital in Granada.Results: During the 11-year period studied, theoverall incidence of syphilis infection in pregnancywas 2.42 × 10–04 (seven cases), with three casesoccurring in the final year.Conclusions: In our area, the incidence of syphilisin pregnancy was higher than the average reportedin other countries of a similar socioeconomic level(e.g. the USA with 1.1 × 100,000 pregnancies),possibly due to the increase in the immigrantpopulation

Concepto actual de discapacidad intelectual / The current concept on intellectual disobility

Se expone a continuación una síntesis de las últimas aportaciones que sobre el "Retraso Mental" ha publicado la Asociación Americana sobre Retraso Mental. Dichas contribuciones se centran en aspectos significativos para la adecuada comprensión de las personas con esta discapacidad, la definición, los conceptos que la componen, los procesos de evaluación y el establecimiento de los apoyos. De igual manera, realizamos algunas consideraciones al respecto. Utilizamos para ello el último manual publicado en el 2002. En esta publicación se sigue manteniendo el termino de "retraso mental", si bien ésta es una terminología a la que estamos acostumbrados, preferiríamos usar otro vocablo que resulte algo más apropiado y, que al menos en nuestro país, está adquiriendo un mayor apoyo entre las personas con esta discapacidad y entre los profesionales, nos referimos al término "discapacidad intelectual"

This paper sets out a summary of the latest contributions on mental retardation published by the American Association on Mental Retardation (AAMR); contributions which centre on key issues for a more acceptable understanding of the people living with this disability, its definition, underlying concepts, evaluation processes and the implementation of support services. Likewise, it also includes some of our own reflections on these matters. Reference is made to the latest AAMR manual published in 2002, which continues to use the term "mental retardation". Despite this being a term with which we are familiar we prefer to use another one that is somewhat more appropriate and that, at least in Spain, is finding greater support among people living with this disability as well as among professionals: we are, of course, referring to "intellectual disability"