Síndrome de CLOVES: tratamiento con rapamicina oral: reporte de dos casos / CLOVES syndrome: treatment with oral rapamycin: report of two cases

INTRODUCCIÓN: El síndrome de CLOVES se caracteriza por sobrecrecimiento lipomatoso asociado a malformaciones vasculares, representando un desafío diagnóstico y terapéutico. La rapamicina, un inhibidor de la vía mTOR, ha demostrado ser una buena alternativa terapéutica en un grupo de anomalías vasculares. Reportamos dos casos de síndrome de CLOVES con buena respuesta al tratamiento con rapamicina oral. OBJETIVO: Reportar la experiencia del uso de rapamicina oral en el tratamiento de dos pacientes con síndrome de CLOVES. CASOS CLÍNICOS: Caso 1: preescolar femenino de tres años de edad con sín drome de CLOVES e historia de hospitalizaciones reiteradas por infección severa de malformaciones linfáticas macroquísticas y episodios trombóticos. Evoluciona con mala calidad de vida, múltiples hospitalizaciones, riesgo quirúrgico y progresión de las lesiones, por lo que se indicó rapamicina oral. A los 6 meses de tratamiento se evidenció reducción clínica y radiológica del tamaño de las masas lipomatosas y linfáticas, ausencia de linforrea cutánea y mejoría significativa de la calidad de vida, sin requerir nuevas hospitalizaciones. Caso 2: escolar femenino de diez años de edad, portadora de síndrome de CLOVES, que desarrolló escoliosis y deterioro de su capacidad motora, haciéndose dependiente del uso de silla de ruedas. Se indicó rapamicina oral, evidenciándose a los cuatro meses de tratamiento mejoría en su capacidad física, independencia y autovalencia, con desaparición de la linforrea. CONCLUSIÓN: Proponemos la rapamicina oral para el tratamiento de pacientes con sín drome de CLOVES que presenten complicaciones y deterioro de la calidad de vida producto de su enfermedad.

INTRODUCTION: CLOVES syndrome is characterized by lipomatous overgrowth associated with vascular malforma tions, representing a diagnostic and a therapeutic challenge. Rapamycin, an mTOR inhibitor, has proved to be a good therapeutic option in some vascular anomalies. In this article, we report two ca ses of CLOVES syndrome with good response to oral rapamycin treatment. OBJECTIVE: To report the outcome of two patients with CLOVES syndrome treated with oral rapamycin. CLINICAL CASES: Case 1: A three-year-old female preschooler with CLOVES syndrome and history of repeated hospita lizations due to severe infections resulting from macrocystic lymphatic malformations and due to thrombotic episodes. The patient evolved with poor quality of life, multiple hospitalizations, surgical risk and progression of the lesions, therefore, oral rapamycin was indicated. After six months of treatment, clinical and radiological reduction in the size of the lipomatous and lymphatic masses, cutaneous lymphorrhea absence and a significant improvement of her quality of life were observed, without requiring new hospitalizations. Case 2: a ten-year-old female schooler with CLOVES syndro me, who developed scoliosis and deterioration of her motor skills, becoming wheelchair-dependent. Oral rapamycin was indicated, showing improvement in her physical capacity, independence and au tonomy, and absence of lymphorrhea after four months of treatment. CONCLUSION: We propose oral rapamycin for the treatment of patients with CLOVES syndrome who present with complications and deterioration in the quality of life as a result of the disease.

Crioconservación seminal de Colossoma macropomum como estrategia de producción y conservación en la Orinoquia Colombiana / Seminal cryopreservation of Colossoma macropomum as a production and conservation strategy in the Colombian Orinoquia / Criopreservação seminal de Colossoma macropomum como estratégia de produção e conservação na Orinoquia Colombiana

Resumen La Cachama negra (Colossoma macropomum) es un pez nativo de Sur América. En Colombia, no hay estudios publicados sobre protocolos estandarizados para su crioconservación seminal. La implementación de esta biotecnología permitiría su producción comercial continua e introducción en bancos de recursos genéticos. El objetivo del presente estudio fue evaluar los efectos de la crioconservación sobre el semen de C. macropomum sometido a diferentes crioprotectores y sistemas de empaque con miras a consolidar un protocolo eficiente para la especie. Se utilizó semen de tres machos sexualmente maduros (4.6 ± 1.6 kg). El semen fue diluido en una proporción 1:4 usando tres diferentes agentes crioprotectores (Dimetilsulfoxido 10% [DMSO], Metanol 10% [MET], Etilenglicol 5% [ETG]) con o sin la inclusión de yema de huevo 12% (YH) y glucosa 5.5%. Además, fueron evaluados dos sistemas de empaque (pajillas de 0.5 ml y macrotubos de 2.0 ml), las cuales fueron expuestas a vapores de nitrógeno líquido (NL) y luego almacenadas durante 8 meses. El semen fue descongelado en baño de agua a 37°C por 60 s y se determinó la motilidad masal (%) [MM], duración de la motilidad (s) [DM], integridad de membrana plasmática (%) [IMP] y fertilidad (%). La motilidad postdescongelación en todos los tratamientos fue significativamente diferente (P<0,05) al control siendo MET 2.0 ml el mejor (53 ± 5.8%). Respecto al control la DM tuvo un comportamiento similar para todos los tratamientos siendo solo diferente significativamente para ETG+YH 0.5 ml. La IMP se mantuvo sin diferencias significativas en MET 2.0 ml con respecto al control. La fertilidad fue significativamente menor en la mayoría de tratamientos con YH, siendo MET 2.0 ml el mejor (94.7 ± 0.6%). En conclusión, el semen de Colossoma macropomum es susceptible de crioconservación no siendo necesaria la utilización de YH en los diluyentes.

Abstract Cachama Negra (Colossoma macropomum) it´s a native fish of South America. In Colombia, there are no published studies on standardized protocols about their seminal cryopreservation. The implementation of this biotechnology would allow its continuous commercial production and introduction in genetic resources banks. The aim of this study was to evaluate the effects of cryopreservation on C. macropomum sperm subjected to different cryoprotectants and packaging systems in order to consolidate an efficient protocol for this specie. Semen from three sexually mature males (4.6 ± 1.6 kg) was used. The semen was diluted in a 1:4 ratio using three different cryoprotective agents (Dimethylsulfoxide 10% [DMSO], Methanol 10% [MET], Ethylene glycol 5% [ETG]); with or without the inclusion of 12% egg yolk (YH) and glucose 5.5%. In addition, two packing systems were evaluated (0.5 ml straws and 2.0 ml macrotubes), wich were exposed to liquid nitrogen (NL) vapors and then stored for 8 months. The sperm was thawed in a water bath at 37° C for 60 s and was determined the mass motility (%) [MM], motility duration (s) [DM], plasma membrane integrity (%) [IMP] and fertility (%). Post-thaw motility in all treatments was significantly different (P <0.05) to control, being MET 2.0 ml the best (53 ± 5.8%). Respect to the control the DM had a similar behavior for all treatments, being only significantly different for ETG+YH 0.5 ml. The IMP remained without significant differences in MET 2.0 ml with respect to the control. Fertility was significantly lower in the majority of treatments with YH, being MET 2.0 ml the best (94.7 ± 0.6%). In conclusion, semen of Colossoma macropomum is susceptible to cryopreservation, and the use of YH in diluents is not necessary.

Resumo O tambaqui (Colossoma macropomum) é um peixe nativo da América do Sul. Na Colômbia, não há trabalhos publicados sobre protocolos padronizados para sua criopreservação seminal. A implementação dessa biotecnologia permitiria sua produção comercial contínua e sua introdução nos bancos de genes. O objetivo deste estudo foi avaliar os efeitos da criopreservação no sêmen de C. macropomum submetido a diferentes crioprotectores e envases, e poder consolidar um protocolo eficiente para esta espécie. Foi utilizado sêmen de três machos sexualmente maduros (4.6 ± 1.6 kg). O sémen foi diluído em uma proporção 1:4 usando três diferentes agentes crioprotectores (10% de dimetil sulfóxido [DMSO], 10% de Metanol [MET] Etileno glicol 5% [ETG]), com e sem a presencia de gema de ovo ao 12% (YH) e glucose a 5.5%. Além foram avaliados dos sistemas de envase (palhetas de 0.5 ml e 2.0 ml de macrotubos) que foram expostos a vapores de nitrogênio líquido (NL) e armazenados por 8 meses em NL. O sémen foi descongelado em banho-água a 37 ° C durante 60 segundos e determinou-se a motilidade massal (%) [MM], duração de motilidade (s) [DM], a integridade da membrana plasmática (%) [IMP] e Fertilidade (%). A motilidade pós-descongelação nos tratamentos foi significativamente diferente (P<0.05) sendo a melhor combinação MET 2.0 ml (53 ± 5.8%) comprados com o controle. Em relação ao controle, o DM teve um comportamento similar para todos os tratamentos sendo significativamente diferente para o ETG+YH 0.5 ml. O IMP permaneceu sem diferenças significativas no MET 2.0 ml em relação ao controle. A fertilidade foi significativamente menor na maioria dos tratamentos com YH, sendo o MET 2.0 ml o melhor (94.7 ± 0.6%). Em conclusão, o sêmen Colossoma macropomum é suscetível à criopreservação e o uso de YH em diluentes não é necessário.

Eritema nodoso: Causas más prevalentes en pacientes que se hospitalizan para estudio, y recomendaciones para el diagnóstico / Erythema nodosum: Analysis of 91 hospitalized patients

Background: Erythema Nodosum (EN) is an acute nodular erythematous cutaneous eruption. It is presumed to be a hypersensitivity reaction and it may be idiopathic, or occur in association with diverse diseases and medications. Aim: To identify the main etiologies of EN among patients admitted to a medicine service of a clinical hospital. Material and Methods: Analysis of medical records of patients discharged with the diagnosis of EN during a ten years period. Patients were considered to have secondary EN when an underlying condition was found, and to have idiopathic EN when no such condition was found. Results: One hundred twenty nine patients were identified, but 91, aged 38 ± 14 years (86% females) had available clinical information. The etiology was idiopathic in 32% and secondary in 68% of patients. The leading etiologies were post-Streptococcal in 32%, followed by sarcoidosis in 11%, primary tuberculosis in 7%, Mycoplasma infection in 3%, Bartonella infection in 3%, Behçet’s syndrome in 2%, inflammatory bowel disease in 2%, drugs in 1% and other etiologies in 8%. Secondary cases of EN had higher levels of C Reactive Protein and leucocytes than idiopathic cases. Conclusions: The distribution of causes in our study population were similar to those reported in the literature (With smaller proportion of idiopathic), as was the man/woman (1/6) ratio, and the preponderance of cases in winter and spring. Infectious diseases were the leading causes of EN in this group of patients, and a reasonable initial approach in the hospital should include a diligent medical history and physical examination, complete blood count, ESR, titles ASO, PPD tuberculin skin test, chest X-ray or CT scan and, where deemed appropriate, specific autoimmune and infectious serology.

Prácticas sociales en la terapia bucal no convencional en los habitantes de una zona rural de Medellín (Colombia) / Social practices in non-conventional oral therapy in the inhabitants of a rural area of Medellín (Colombia)

Resumen Introducción y objetivo: Rescatar los saberes populares frente a la odontología es importante en el contexto social actual. Se pretende identificar las prácticas sociales relacionadas con los tratamientos no convencionales para las enfermedades bucales que utilizan los habitantes en un corregimiento rural y reconocer la influencia de la tradición oral asociada. Materiales y métodos: Estudio cualitativo etnográfico mediante 14 entrevistas semi-estructuradas en las veredas El Plan, Barro Blanco y Media Luna del corregimiento de Santa Elena en el periodo 2012-2013. Éstas fueron audio-grabadas y transcritas literalmente. Análisis de contenido cualitativo según categorías de análisis iniciales y emergentes, tales como: concepto salud enfermedad, uso y efectividad de tratamientos no convencionales, tradición oral, entre otros. Resultados: Las personas entrevistadas consideran la salud bucal como parte de la salud integral y de un adecuado intercambio social; mientras que otras, continúan considerándola como ausencia de dolor dental. Los entrevistados relataron utilizar elementos no convencionales, como las plantas medicinales (tomatera, yerbamora, entre otros) para la terapia bucal; y este uso se ha visto influenciado por la transferencia del conocimiento entre la comunidad y/o familia. Se observó que no hay una predilección por terapias convencionales frente a las no convencionales, aunque en dicha selección intervienen factores como el acceso oportuno a los servicios de salud y efectividad comprobada por experiencias anteriores. Conclusión:Los tratamientos no convencionales continúan siendo un recurso terapéutico en afecciones bucales relacionadas principalmente con dolor, inflamación e higiene y están asociadas con una alta tradición familiar y social.

Abstract Introduction and objective: Rescuing popular knowledge in dentistry is important in the current social context. We aim to identify the social practices associated with non-conventional therapy for the treatment of oral diseases used for the inhabitants of a rural area (Medellín) and recognize the influence of the oral tradition. Materials and methods:A Qualitative study with ethnographic perspective was conducted. 14 semi-structured in-depth interviews were carried out in the villages of El Plan, Barro Blanco y Media Luna in Santa Elena during the period 2012-2013. Audio recordings and verbatim transcript were used. A Qualitative content analysis was conducted according to initial and emerging categories of analysis, such as health disease concept, use and effectiveness of non-conventional treatments, oral tradition, among others. Results: Interviewed people consider oral health as part of comprehensive health and from an adequate social exchange; while others continue to regard it as the absence of dental pain. Respondents reported using non-conventional elements such as medicinal plants (Tomato, Yerbamora, etc.) for oral therapy. This use has been influenced by the transfer of knowledge between the community and/or the family. There is not a predilection for the conventional and unconventional therapies although diverse factors should be considered such as opportunity in the access to health services and therapy effectiveness according to previous experiences. Conclusion: Non-conventional treatments remain a therapeutic resource for oral diseases mainly related pain, inflammation and health and they are associated with high social and family tradition.