Metachondromatosis: A Confusing Disease.

Metachondromatosis is a rare autosomal dominant genetic disease with incomplete penetrance that involves abnormal function of the PTPN11 gene. Differentiation between chondrogenic tumors is a challenge for orthopedists. We report a case of a 5 year-old girl with metachondromatosis, a disease that shares attributes with osteochondromas and enchondromas. We found multiple osteochondroma-like lesions with the atypical characteristic of guiding its growth toward the neighboring joint (epyphisis) instead of moving away from it. Furthermore, columnar enchondroma-like lesions were clearly visible in the right distal radius, in the proximal femoral cervix and in the iliac crests. The patient reported that some other tumor had disappeared or downsized with time. This case was debated between a multidisciplinary skeletal dysplasia group. The aforementioned clinical and radiographic findings reinforced the hypothetical diagnosis of metachondromatosis. Definitive diagnosis of metachondromatosis requires a combination of clinical, radiographical and histopathological findings. Differential diagnosis between enchondromas, osteochondromas and metachondromatosis is vital due to differences in malignization and natural history. When a patient has multiple enchondromas and osteochondromas with regression of some lesions and atypical radiographical characteristic of the osteochondroma-like lesions pointing toward the epiphysis, metachondromatosis, a rare disease, must be considered. Surgical treatment is reserved for painful lesions Risk of malignization is insignificant and genetic advice must be given due it is an autosomal dominant disease.

Ways to perform an endoscopic tattoo. Prospective and randomized study in patients with colorectal neoplasm.

BACKGROUND AND AIMS: intraoperative identification of colonic lesions previously detected via colonoscopy may be difficult. Endoscopic tattooing facilitates identification, but there is no evidence regarding which is the best tattoo technique. The goal of the study was to describe the efficacy and safety of endoscopic tattooing and to detect technical and clinical factors associated with its efficacy. PATIENTS AND METHODS: a prospective and randomized study was performed. All tattoo candidate patients were included prior to surgery and randomized into four groups; tattoo at two or three injection points and with a volume of 1 or 1.5 ml of labeling. Multiple variables were registered. RESULTS: one hundred and ninety-five patients were included with an endoscopic tattoo and who subsequently underwent a surgical intervention, the mean age was 70.1 years and 67.2 % were male. The laparoscopic approach was applied in 57.9 % of cases. The intraoperative visibility of the endoscopic tattoo was 89.7 % and 30 % of rectal lesions were not visible. Excluding the rectum, the marking was visible intraoperatively in 92 % of patients, without significant differences according to the surgical approach, the type of marking or any of the variables collected. The tattoo was safe in 92.3 % of the cases. The adverse effect rate was 7.7 % and none of the complications were clinically significant. There were no significant differences between any variables collected in relation to adverse effects. CONCLUSIONS: endoscopic colon tattoo is safe and effective regardless of the technique used. We recommend the technique of two injection points and 1 ml of marking volume for its simplicity, efficiency and safety.

Granuloma formation associated with patellar tendon necrosis in response to Ethibond confirmed by histopathological examination.

The aim of this study is to describe a case of delayed granuloma formation associated with tendon necrosis in response to Ethibond confirmed by histopathological examination and to review and discuss the related literature. A 40-year-old woman underwent a patellar tendon repair with Krakow-like #5 Ethibond sutures. Four years after the repair, she noticed progressive soreness with knee extension and swelling. An ultrasound examination revealed a proximal partial patellar tendon rupture. Based on these findings, the patient was advised to undergo surgical intervention due to a diagnosis of re-rupture. Tendinosis, fibrosis and necrosis scar tissue surrounding the previous suture were observed and excised, and samples were sent for histopathological and microbiological examination. Stripping of the patellar paratenon was performed. Surprisingly, a giant cell foreign body reaction surrounding the synthetic refringent material, as well as polymorphonuclear cells surrounding the necrotic tendon, was reported.

High efficacy of Sofosbuvir plus Simeprevir in a large cohort of Spanish cirrhotic patients infected with genotypes 1 and 4.

BACKGROUND AND AIMS: Hepatitis C (HCV) therapy with Sofosbuvir (SOF)/Simeprevir (SMV) in clinical trials and real-world clinical practice, showed high rates of sustained virological response (SVR) in non-cirrhotic genotype (GT)-1 and GT-4 patients. These results were slightly lower in cirrhotic patients. We investigated real-life effectiveness and safety of SOF/SMV with or without ribavirin (RBV) in a large cohort of cirrhotic patients. METHODS: This collaborative multicentre study included data from 968 patients with cirrhosis infected with HCV-GT1 or 4, treated with SOF/SMV±RBV in 30 centres across Spain between January-2014 and December-2015. Demographic, clinical, virological and safety data were analysed. RESULTS: Overall SVR was 92.3%; the majority of patients were treated with RBV (62%) for 12 weeks (92.4%). No significant differences in SVR were observed between genotypes (GT1a:94.3%; GT1b:91.7%; GT4:91.1%). Those patients with more advanced liver disease (Child B/C, MELD≥10) or portal hypertension (platelet count≤100×109 /L, transient elastography≥21 Kpa) showed significantly lower SVR rates (84.4%-91.9%) than patients with less advanced liver disease (93.8%-95.9%, P<.01 in all cases). In the multivariate analysis, the use of RBV, female gender, baseline albumin≥35 g/L, MELD<10 and lack of exposure to a triple therapy regimen were independent predictors of SVR (P<.05). Serious adverse events (SAEs) and SAE-associated discontinuation events occurred in 5.9% and 2.6%. CONCLUSIONS: In this large cohort of cirrhotic patients managed in the real-world setting in Spain, SOF/SMV±RBV yielded to excellent SVR rates, especially in patients with compensated liver cirrhosis. In addition, this combination showed to be safe, with low rates of SAEs and early discontinuations.

Chronic infections of the spine.

Chronic infections following posterior fusion are relatively uncommon. They develop in a previous asymptomatic patient at a distant time from the surgery. Chronic infections arise from direct inoculation or hematogenous seeding. To eradicate a chronic infection, the pathogens, biofilm, non-viable tissues, adherence on surfaces, and instrumentation must be removed. The appropriate antibiotherapy is used in a short (4 weeks) or long protocol (9 weeks). Some patients may need repeated surgeries (leaving the instrumentation in situ) to avoid progressive deformity or symptomatic pseudoarthrosis in cases of implant removal.

Hepatic venous pressure gradient identifies patients at risk of severe hepatitis C recurrence after liver transplantation.

Liver biopsy is essential in the follow-up of HCV-infected liver transplant recipients. The aim of this study was to prospectively compare percutaneous (PLB) versus transjugular liver biopsy (TLB) in the assessment of liver damage. We also explored the diagnostic value of hepatic venous pressure gradient (HVPG) to identify patients at risk of severe HCV disease recurrence after liver transplantation (LT). One hundred sixteen paired PLB and TLB (with HVPG measurement) were performed 3 or 12 months after LT in 80 patients. Concordance for necroinflammation and fibrosis was fair or good, particularly 1 year after LT (kappa > or = 0.6). At this point, a significant positive association was seen between the median HVPG and the fibrosis stage (2.5 mm Hg for F0; 5 mm Hg for F1, 6 mm Hg for F2, and 11.5 mm Hg for F3; Kruscal-Wallis < 0.001). Despite this strong association, portal hypertension (HVPG > or = 6 mm Hg) was detected in 1 (5%) of 22, 4 (16%) of 25, and 6 (60%) of 10 patients with fibrosis stages 0, 1, and 2, respectively. After a median follow-up of 38 months, clinical decompensation occurred in 15 (19%) of 80 patients. Although the presence of significant fibrosis (F2-F3) 1 year after transplantation was good to predict clinical decompensation (AUC: 0.80), an HVPG of 6 mm Hg or greater was extremely accurate at identifying patients at risk of disease progression (AUC: 0.96). In conclusion, HVPG determination is a valuable tool for follow-up in patients with HCV recurrence after LT.

Radioterapia postoperatoria en el cancer de mama: indicaciones, objetivos y resultados / Postoperative radiotherapy in breast cancer

A radioterapia es un arma terapéutica para el cancer de mama que se utiliza desde hace un siglo sin embargo aún existen algunas controversias respecto a la misma. En la actualidad la radioterapia juega un papel importante no solo como tratamiento complementario luego de una mastectomia sino como complemento indispensable luego de un tratamiento conservador de la mama.Los objetivos actuales del tratamiento radiante postoperatorio son: 1. La conservación de la mama. 2. Aumento del porcentaje de control local y por lo tanto de la sobrevida libre de enfermedad. 3. Disminucion de las metastasis. 4. Probablemente un aumento de la sobrevida en un grupo determinado de pacientes. En el presente trabajo se analiza la radioterapia postoperatoria y se la relaciona a la evolución del conocimiento de la historia natural del cancer de mama. A la luz de los últimos trabajos publicados queda demostrado que el papel de la radioterapia es más que solo el control local de la enfermedad sino que ademáas logra un aumento de la sobrevida libre de enfermedad como de la sobrevida total. Se desarrollan las indicaciones y la técnica radiante tanto de la radioterapia luego de una mastectomía como luego de un tratamiento conservador.

Síndrome de la vena cava superior. Actualización terapéutica / Superior vena cava syndrome

El objetivo de la presente comunicación es actualizar los procedimentos terapéuticos, fundamentalmente médicos y excepcionalmente quirúrgicos, aplicables al síndrome de la vena cava superior. Desmitificado dicho síndrome como emergencia, se enfatiza en la imperiosa necesidad de profundizar el diagnóstico etiológico ya que aproximadamente el 50 por ciento de las causas que lo provocan ("oat cell" broncopulmonar, linfomas y germinomas) son perfectamente tratables y eventualmente controlables. Se culmina efectuando un pormenorizado análisis del tratamiento actual y se efectúan recomendaciones sobre la conducta a seguir ante la eventual presencia de dicho síndrome

El rol de la radioterapia en el manejo terapéutico del cáncer de parótida / Radiation therapy in parotid cancer

En el presente trabajo se analizan en forma sucinta las características clínicas de los carcinomas de parótida, su historia clínica, su forma de presentación y los exámenes paraclínicos necesarios para la estadificación. Se analizan en forma más exhaustiva los diferentes tratamientos, haciendo hincapié en el tratamiento radiante. Se pone en evidencia cuales son las indicaciones de dicho tratamiento: 1. Tumores inoperables. 2. Tumores irresecables. 3. Tumores operados con factores de riesgo (tumores de alto grado, tumores avanzados). 4. Recidiva. Se desarrollan las técnicas más habituales de tratamiento radiante. Por último, se desarrolla una serie personal de pacientes portadores de cáncer de parótida y que fueron derivados a los centros oncológicos donde nos desempeñamos cono oncólogos radioterapeutas

Radioquimioterapia en los tumores de cabeza y cuello. ¿Un tratamiento estándar? / Radiochemotherapy in head and neck tumors

El presente trabajo es una revisión exhaustiva de la literatura respecto al empleo de tratamientos combinados de radioquimioterapia en los tumores de cabeza y cuello. Se comienza remarcando la importancia sanitaria de este grupo de enfermedades no sólo por su frecuencia sino por el alto porcentaje de pacientes que se presentan a la consulta con una enfermedad avanzada, donde los resultados de los tratamientos clásicos de cirugía y de radioterapia son muy desalentadores. Estos resultados son pobres tanto en cuanto a la sobrevida como en la calidad de la misma. Se analiza el papel de los diferentes fármacos utilizados en estos pacientes y fundamentalmente las diferentes asociaciones con la radioterapia: neoadyuvante, adyuvante y concomitante. Por último se desarrollan los trabajos que comparan las diferentes formas de asociación radioquimioterápica, secuenciales y concomitantes. Se concluye que el empleo de radioquimioterapia (fundamentalmente el empleo concomitante) ha modificado los resultados magros obtenidos anteriormente. Este resultado permite afirmar que esta forma de tratamiento es de elección para aquellos pacientes con tumores avanzados de cabeza y cuello con un estado general que permita tolerar una mayor toxicidad

Liposarcoma primitivo de la mama: comunicación de un caso clínico y revisión de la literatura / Primitive liposarcoma of the breast

Los sarcomas primarios de la mama son tumores extremadamente raros, representando menos de 1 por ciento de los tumores mamarios (puede llegar a 4 por ciento si se incluye al cistosarcoma phylloides). Se presenta un caso de liposarcoma primitivo de la mama en una mujer de 40 años. Se destacan las dificultades diagnosticas y las características anatomopatológicas, así como las consideraciones terapéuticas y pronósticas en relación a la bibliografía internacional

Cancer del canal anal. Una neoplasia radioquimiocurable / Cancer of the anal canal. A neoplasm curable by radiotherapy and chemotherapy

En el presente trabajo se hace una exhaustiva revisión de la anatomía de la región, de la historia de los tratamientos y de los tratamientos actuales del cáncer de canal anal. Se hace énfasis en la importancia del tratamiento conservador con radioquimioterapia (RQT). El presente es un estudio prospectivo, longitudinal descriptivo. Material y método: entre enero de 1989 y diciembre de 1994 se asistieron 20 pacientes con cáncer de canal anal con una enfermedad no metastásica. La edad media fue de 62,4 años. El sexo, 16 hombres y 4 mujeres. El performan status 0,1 o 2 de la escala del ECOG. En la anatomía patológica: 15 pacientes carcinoma epidermoide, 5 pacientes carcinoma basaloide. Estadificación E I: 2 pacientes, E II: 12 pacientes, E III: 6 pacientes, E IV: 0 pacientes. Tratamiento: La radioterapia se realizó con cobalto 60 y se irradió el tumor primario y las estructuras ganglionares regionales, pelvianas e inguinales. Se entregaron 2 Gy/día de lunes a viernes hasta 50 Gy. La quimioterapia se realizó con mitomicina C 10 mg/m² día previo a la radioterapia y 5-FU 1 g/m² intravenoso en infusión los días 1 al 4 y 29 al 32 luego de la radioterapia. Resultados: a) Control locorregional -RC- 16 pacientes (80 por ciento), RP 2 pacientes (10 por ciento), sin respuesta o con progresión lesional un paciente (5 por ciento). b) Estado vital: vivos 15 pacientes, fallecieron 5 pacientes (seguimiento 12 a 60 meses). e) Tolerancia: no hubo muertes por el tratamiento gastrointestinal y hematológico con toxicidad moderada. Conclusiones: 1) La radioquimioterapia es el tratamiento de elección 2) Es un tratamiento factible de realizarse en nuestro medio 3) Requiere de una buena relación interdisciplinaria. 4) Toxicidad predecible y tolerable. 5) Resultados de conservación del esfínter en 80 por ciento

Carcinoma oculto de mama (To, N1, Mo): una propuesta conservadora / Occult carcinoma of the breast (To, N1, Mo): a conservative proposal

Se analizaron 10 historias clínicas de pacientes portadoras de carcinoma oculto de mama que se definió como To, N1, Mo, se desarrollaron los argumentos que nos permiten plantear un tratamiento conservador de la mama. Se analizaron los resultados de nuestra serie y los de los autores de referencia y se plantea una pauta diagnóstica terapéutica futura que conserva la mama y que se detalla en un algoritmo