Autosomal dominant polycystic kidney disease is a multiorganic hereditary disorder. It is responsible for 7-10% of cases of end stage renal failure. It is caused by mutations in the genes PKD1 and PKD2. Both polycystic kidney disease's forms have a pathogeny and similar clinic, but in the patients with mutation in PKD2, the clinical manifestations appear later and the progression to end stage renal failure happens 10 years later than in the patients with mutation in PKD1. The diagnosis of this disease can be performed through ultrasounds, but the molecular diagnosis offers some advantages, such as the early detection of asymptomatic individuals who carry this genetic defect, in order to perform a preventive monitoring and genetic counselling. In this work, we present the results of the mutational analysis of the PKD2 gene in 18 patients diagnosed with autosomal dominant polycystic kidney disease. The objectives of this work were to analyze the profitability of the genetic study compared with the radiologic study, and perform an early genetic diagnosis in the descendants of patients who were affected by a mutation in the PKD2 gene, trying to establish a correlation between phenotype and genotype. After the genetic analysis, only one family was diagnosed with a mutation in exon 13 of the PKD2 gene (5.56%), which consists on a substitution of the nucleotide adenosine by cytosine (c.2398A>C), which implies that the amino acid methionine is replaced by leucine (p.800Met>Leu). In our population, contrary to what was published in the literature, the mutation of the gene was clinically significant and did segregate with the disease. All the members with a clinical and ultrasound diagnosis of polycystic renal disease presented the abovementioned mutation. We could not confirm any clinicalgenetic correlation. Due to the high prevalence of chronic renal failure and terminal chronic renal failure secondary to polycystic kidney disease in our study, an early genetic diagnosis would involve a better prognosis in connection with a closer clinical monitoring.

La poliquistosis renal autosómica dominante (PQRAD) es una enfermedad hereditaria multiorgánica, caracterizada por un progresivo crecimiento y desarrollo de quistes renales que destruyen el parénquima funcional. Es responsable del 7-10% de los casos de insuficiencia renal crónica terminal que precisan tratamiento renal sustitutivo, causada por mutaciones en los genes PKD1 y PKD2. Las dos formas de PQRAD tienen una patogenia y clínica similar, pero en los pacientes con mutación en PKD2, las manifestaciones clínicas aparecen más tarde y la progresión a nefropatía terminal acontece 10 años más tarde que en los pacientes con mutación en PKD1. El diagnóstico de esta enfermedad puede realizarse fácilmente mediante ecografía, pero el diagnóstico molecular ofrece la ventaja de la detección precoz de individuos asintomáticos portadores del defecto genético. En este trabajo, presentamos los resultados del análisis genético (PKD2) de 18 pacientes diagnosticados de PQRAD. Los objetivos de nuestro trabajo fueron comparar la rentabilidad del estudio genético respecto al radiológico, realizar un diagnóstico genético precoz en los descendientes de pacientes afectados, e intentar establecer una correlación fenotipo-genotipo en los pacientes con mutación en PKD2. Tras el análisis genético, sólo se diagnosticó a una familia (5,56 %) con mutación en el exón 13 del gen PKD2, consistente en una sustitución del nucleótido adenosina por citosina (c.2398A>C) que implicaba el cambio del aminoácido metionina por leucina (p.800Met>Leu). En nuestra población, contrariamente a lo publicado, la mutación sí se segregó con la enfermedad, y todos los miembros con diagnóstico clínico y de imagen de PQRAD presentaron dicha mutación. Dada la alta prevalencia de insuficiencia renal crónica e insuficiencia renal crónica terminal secundaria a poliquistosis renal en nuestro medio, el diagnóstico genético precoz de la poliquistosis renal conllevaría mejor pronóstico en relación con un seguimiento clínico más estricto.

We present the case of a man with history of epistaxis and facial pain. CT showed a destructive mass located in the paranasal sinuses that extends into the rachis channel, aspect that has not been described before. The surgery and pathology study revealed a neuroendocrine carcinoma

Se presenta el caso de un varón con historia de epistaxis y dolor facial. La TC demostró una masa destructiva en senos paranasales que se introducía en el canal raquídeo, aspecto no descrito previamente en la literatura. La excisión quirúrgica y el estudio anatomopatológico revelaron un carcinoma neuroendocrino

Woman of 63 years old with essential arterial hypertensión, essential trembling and chronic venous insufficiency of inferior members; she came to the Internal Medicine outpatients department because of her chronic venous insufficiency, objectifying in the physical examination a systolic heart murmur II/VI in the left sternal border and many signs of chronic venous insufficiency in the inferior members. In the chest radiograph was found as an accidental finding, a properly delimited vascular image in the left upper mediastino, for this reason there were later realized diverse complementary examinations gradually more aggressive, that included a pulmonary angiography which revealed the presence of an aneurysmatic dilatation in the common and left pulmonary arteries. With these findings, the patient was undergoing a surgical operation, in which was realized a partial resection and folder to the common and left pulmonary arteries to reduce diameter to 2-3 centimetres, with a post-operative period without complications and staying without symptoms after the surgery.

Mujer de 63 años de edad con hipertensión arterial esencial, temblor esencial e insuficiencia venosa crónica en miembros inferiores; que acude a la Consulta Externa de Medicina Interna por su insuficiencia venosa crónica, objetivandose en la exploración física un soplo sistólico II/VI en borde esternal izquierdo y signos de insuficiencia venosa crónica en miembros inferiores. En la radiografía de tórax se encontró como hallazgo casual, una imagen vascular bien delimitada a nivel del mediastino superior izquierdo, motivo por el que se realizaron posteriormente diversas exploraciones complementarias progresivamente más agresivas, que incluyeron una angiografía pulmonar, que reveló la presencia de una dilatación aneurismática de las arterias pulmonares común e izquierda. Con estos hallazgos, la paciente fue sometida a intervención quirúrgica, realizándose resección parcial y plicatura de las arterias pulmonares común e izquierda hasta reducir a un diámetro de 2-3 centímetros, con un postoperatorio sin complicaciones y permaneciendo asintomática tras la cirugía.

Avaliou-se a resposta de antitoxinas beta e épsilon de Clostridium perfringens em bovinos vacinados contra clostridioses com seis vacinas disponíveis no mercado. Quarenta e oito bezerros de seis a sete meses de idade foram divididos em oito grupos (T1 a T8) de seis animais cada. Os grupos de número 2 a 7 receberam as vacinas T2 a T7 nos dias 0 e 42 com a dose e via recomendadas pelos fabricantes. Solução salina e toxóide padrão foram usados nos mesmos dias nos grupos 1 e 8 (T1 e T8), respectivamente, como controles negativo e positivo. Amostras de sangue foram coletadas nos dias 0, 42 e 56 pós-vacinação (PV), para titulação de anticorpos no soro. As vacinas e os controles foram também testados em oito coelhos cada, inoculados nos dias 0 e 21 com metade da dose indicada para bovinos. Os coelhos foram sangrados no dia 35 e os soros foram misturados em partes iguais para cada vacina para a titulação de anticorpos. Os soros dos bovinos foram titulados individualmente contra as toxinas beta e épsilon de C. perfringens pelo método de soroneutralização em camundongos. A vacina T2 apresentou títulos de anticorpos de 22,6 e 5,6 UI/ml e a vacina T4 11,2 e 7,0 UI/ml, respectivamente, contra toxinas beta e épsilon em coelhos. Os títulos do toxóide padrão (T8) foram 45,2 UI/ml contra ambas as toxinas. Em bovinos, as médias dos títulos de anticorpos contra a toxina beta nos dias 42 e 56 PV com a vacina T2 (1,15 UI/ml e 8,0 UI/ml) foram similares ao toxóide padrão (2,02 e 10,03 UI/ml). A vacina T4 (0,73 e 4,54 UI/ml) teve títulos menores (P<0,05) que o toxóide padrão e similares a T2. Contra a toxina épsilon, o toxóide padrão teve média de título (0,97 UI/ml) no dia 42 que foi significativamente maior (P<0,05) do que T4 (0,15 UI/ml) e similar a T2 (0,42 UI/ml). No dia 56, T2 (4,27 UI/ml) teve títulos significativamente maiores (P<0,05) do que T4 (0,68 UI/ml) e similares ao toxóide padrão (4,98 UI/ml). Em cada tratamento, a resposta aos 56 dias foi superior (P<0,05) em relação aos 42 dias após a primeira vacinação. As outras vacinas e a solução salina não induziram respostas de antitoxinas beta e épsilon de C. perfringens detectáveis nos soros dos coelhos e dos bovinos. A vacina T2 induziu altos títulos de anticorpos, maiores que aqueles induzidos por T4 e similares ao T8.

The antibody response against beta and epsilon toxins of Clostridium perfringens was evaluated in cattle vaccinated with six commercial clostridial vaccines. Groups of six calves (6-7 months old) were vaccinated with each vaccine (T2 to T7), on days 0 and 42, with the recommended dose and route. Saline solution (T1) and a standard toxoid vaccine (T8) were used as negative and positive controls, respectively. On days 0, 42 and 56 post-vaccination (PV), blood samples were collected for antibody titration. Vaccines, as well as controls, were also injected into 8 rabbits each, on days 0 and 21, using half of the dose recommended for cattle. Rabbits were bled on day 35. Rabbit sera were tested as a pool per vaccine and cattle sera were tested individually against beta and epsilon toxins, by the serum neutralization test in mice. The vaccine T2 had antibody titers of 22.6 and 5.6 IU/ml and T4 had 11.2 and 7.0 IU/ml against beta and epsilon toxins in rabbits, respectively. The standard toxoid had a titer of 45.2 IU/ml against both toxins. In cattle, mean antibody titers against beta toxin on days 42 and 56 PV induced by T2 (1.15 and 8.0 IU/ml) were similar to those induced by the standard toxoid (2.02 and 10.3 IU/ml). T4 titers (0.73 and 4.54 IU/ml), were lower (P<0.05) than those obtained with the standard toxoid, but similar to T2 titers. On day 42, the standard toxoid had a mean titer (0.97 IU/ml) against epsilon toxin significantly higher (P<0.05) than that obtained with T4 (0.15 IU/ml) but similar to T2 mean titer (0.42 IU/ml). On day 56, T2 resulted in a significantly higher titer (4.27 IU/ml) (P<0.05) than that induced by T4 (0.68 IU/ml), but similar to the standard control (4.98 IU/ml). The other vaccines, as well as the saline solution, did not elicit antibody responses, neither in rabbits nor in cattle. T2 induced antibody titers against C. perfringens beta and epsilon toxins similar to those induced by the standard toxoid and higher than those induced by T4.