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INTRODUCCIÓN: El cáncer de mama es la primera causa de muerte de la mujer en la Argentina, con una incidencia estimada de más de 19.000 casos nuevos por año. Dentro de estos, el tipo de cáncer hereditario más común es el de mama/ovario hereditario, provocado por mutaciones en los genes BRCA 1(Breast cáncer) y BRCA 2. A su vez el cáncer colorrectal es la segunda causa de muerte en Argentina, con una incidencia estimada de más de 11.000 casos nuevos por año. OBJETIVO: de la presente investigación es evaluar la utilidad de la realización de los estudios genéticos en personas con cáncer hereditario en el contexto del consejo genético, con un asesoramiento antes y después de realizarse la prueba genética POBLACIÓN Y MÉTODOS: Se estudiaron 34 mujeres con diagnóstico de cáncer de mama/ovario y 31 pacientes de ambos sexos con diagnóstico de cáncer colorrectal (CCR). En las mujeres se analizaron los genes BRCA 1 y 2 por secuenciación de próxima generación (NSG) y grandes rearreglos de los genes BRCA 1 y 2 por amplificación de sonda dependiente de la ligadura multiplex (MLPA). En las personas de ambos sexos se determinó la Inestabilidad de Microsatelites(IMS), el análisis de mismatch repair (MMR) por MLPA y la mutación del gen BRAF (Protooncogen B-Raf) RESULTADOS: Los resultados mostraron que las pacientes con cáncer de mama / ovario con antecedentes familiares tienen un alto porcentaje de BRCA negativo. En cuanto a los cambios fenotípicos, el más predominante en este estudio, fue el subtipo triple negativo y la paciente con BRCA 2 positivo presentó este fenotipo. Con respecto al estudio del cáncer de colon detectamos cuatro pacientes con IMS-alta y mutación del V600E del gen BRAF. Cuando se les realizó el análisis de MLPA en los genes MSH6, MLH1, MSH2 y PMS2 a los efectos de establecer la diferencia entre CCR y síndrome de Lynch, los resultados fueron negativos, por lo tanto, estos pacientes fueron diagnosticados como CCR esporádico. CONCLUSIONES: Como lo demuestra este trabajo, para el consejo genético, el estudio de vías moleculares en pacientes con cáncer hereditario es un instrumento de ayuda para la valoración del riesgo génico.

Drug consumption is among the non-occlusive causes of ischemic colitis. We report a case of cocaine-induced ischemic colitis in a 34-year-old man who had undergone sigmoid resection and loop colostomy due to abdominal-pelvic injury 3 months previously. The patient presented with abdominal pain associated with diarrhea and slight transient fever of doubtful etiology and reported intranasal cocaine consumption. He was hemodynamically stable and showed no peritoneal irritation. Traces of blood were found in the colostomy bag. Colonoscopy showed ulcers and necrosis proximal to the stoma. Computed tomography angiography scan showed no abnormalities except filiform inferior mesenteric artery. The symptoms were self-limiting and the patient was discharged 3 days after admission. Subsequently the colostomy was closed without complications. A high degree of suspicion is required in young patients with abdominal pain not identified by conventional methods and a recent history of drug consumption., (Copyright © 2010 Elsevier España, S.L. All rights reserved.)

Background: Chronic renal failure is becoming a public health problem. The estimation of glomerular filtration rate (GFR) using the MDRD-4 equation is important to find out patients with impaired renal function. The aim of this study was to determinate the rate of patients took care in Primary Care with "occult" renal failure, defined as a GFR less than 60 mL/min/1.73m2, and serum creatinine levels in the normal range of the laboratory (< 1.3 mg/dL for men, and < 1.2 mg/dL for women)., Methods: Patients over 18 years-old took cared in Primary Care of the health area of Plasencia (Caceres), who were measured serum creatinine level between March to July 2006. We estimated GFR using MDRD-4 formula and classified the level of kidney function according to the NKF-DOQI guidelines., Results: We estimated GFR in 13.784 analyses. In 1.042 the GFR was less than 60 mL/min/1.73m2, from 960 patients (6.96%). Mean age 76.8 years (range 40-98 years). 418 keep normal serum creatinine levels (43.5%)., Conclusion: Renal impairment seems to be prevalent in the general population took care in Primary Care. An elevated rate of patients with renal failure present serum creatinine levels in the laboratory normal range, "occult" renal failure. The systematic estimation of GFR using MDRD formula is necessary to detect this patients with renal impairment.

Introduction: Post-ischemic brain edema occurs in 10-20% of cases of infarction of the middle cerebral artery and is the main cause of early death following a completed stroke. This complication, which is known as malignant middle cerebral artery infarction (MMCI), has a mortality rate of 78% when treated medically and thus requires a different management, such as a decompressive craniectomy. The main aim of this study is to review this procedure., Development: We conducted a search in the literature published over the last 20 years on this subject. Most of the studies are series of clinical cases with very favourable surgical outcomes. In non-random case-control studies the mortality rate was seen to decrease in the surgical group, and more so if the intervention was carried out early, as compared to the group that underwent medical treatment. Another study that compared decompressive craniectomy with hypothermia showed a higher survival rate in the surgical group. The post-surgery morbidity rate has not been determined, although it seems to be lower in infarction of the non-dominant hemisphere and in younger patients., Conclusions: The low degree of conclusiveness of the studies published to date only enables us to offer one practical opinion concerning this issue: decompressive craniectomy should be evaluated on an individual basis in patients with MMCI who do not respond to medical treatment. The final decision and the most appropriate moment to operate on the patient following the stroke must be based on the family's opinion and on the clinical features of the patient.

Introduction: An inflammatory pseudotumour is a condition of unknown origin and inflammatory nature. It is rarely found in the CNS. We report a case of inflammatory pseudotumour localized to the IV ventricle and review the clinical characteristics of previously reported cases in order to outline the clinical profile of this condition., Clinical Case: A 40 year old man was admitted to hospital complaining of a subacute condition involving difficulty in speaking and in moving his right arm and leg. On examination he had ocular deviation on initial gaze, a complete right Horner's syndrome, right supranuclear facial palsy, dyssynergy-asymmetry on the right finger-nose test and a dissociated sensitivity disorder of the left arm. On MR of the brain there was a space occupying lesion, nodular in form and fixed to the roof of the fourth ventricle. The histopathological report on the specimen removed by surgery stated it to be an inflammatory pseudotumour. On a MEDLINE search for reported cases of inflammatory pseudotumour of the CNS, 27 were found since 1967. Four cases, including ours, involved masses growing into the interior of the fourth ventricle., Conclusions: Inflammatory pseudotumour of the CNS is a condition affecting young adults, with a slight male predominance and some association with clinical and analytical data suggesting autoimmune dysfunction. The intraventricular site, particularly within the fourth ventricle, is relatively common (4/28) and is usually associated with clinical features of dysfunction of the posterior fossa and/or intracranial hypertension. We consider that inflammatory pseudotumour should be included in the differential diagnosis of tumours of the fourth ventricle.

Introduction: The Parry-Romberg syndrome is a clinical condition in which there is progressive facial hemiatrophy which may be associated with neurological, ocular, cutaneous and auto-immune disorders. It is of unknown aetiology, although many theories have been put forward., Clinical Case: We present a case of left facial hemiatrophy associated with ipsilateral lingual hemiatrophy and signs of cortico-cerebellar dysfunction, the neuroimaging findings (NMR) and clinico-radiological follow-up covered a period of over 10 years., Conclusion: The data on the clinical course and neuroimaging, together with our review of the literature, suggest that the Parry-Romberg syndrome may be considered to be a dysgenetic process which may originate during the first stages of CNS embryogenesis.

Renal artery embolism is an infrequent entity that occurs in patients with underlying cardiac diseases. Diagnosis is usually difficult unless the index of suspicion is high. Local thrombolysis with low-dose fibrinolytic agents is an useful therapeutic intervention. We present 2 cases of renal artery embolism treated with intra-arterial urokinase and review clinical features and therapeutic options.

Desmoid tumor is a rare neoplasm with extra-abdominal location and female predilection. Anatomopatological analysis is necessary to establish the diagnosis unequivocally, but Magnetic Resonance is the no aggressive method with the best sensitivity and specificity. Surgical resection is the elective treatment yet, and prognosis is not so good as it could be expected in a benign tumor. We report a young male case without polyposis coli antecedents. When he was attended, he related only an abdominal bulk with no other symptom. An intra-abdominal mass 32 cm length per 25 cm width consistent with desmoid tumor was finally resected.

Pulmonary haemorrhage is a severe complication of small-vessel vasculitis associated with antineutrophil cytoplasm antibodies (ANCA). The main pathologic finding is a pauci-immune capillaritis, although occasionally this lesion is not present. The differential diagnosis includes different diseases and therefore ANCA measurement is important. Two cases of pulmonary haemorrhage associated with ANCA in patients with a clinical picture suggesting small-vessel vasculitis is here reported and a review of the literature is made.

A restrospective study was performed on patients presenting with status asthmaticus and admitted to the Intensive Care Unit of the Provincial Clinical and Surgical Teaching hospital, Pinar del Río, within a 5-year period and who underwent mechanical ventilation representing 32.65% of the overall number of admissions in the ICU. Fifty seven percent of the patients were women with an average age of 48 years. The mean intubation time was 60 hours. At admission, the patient's clinical condition was assessed, as well as the cause for intubation and ventilatory parameters that are being used up to date. Complications and the mortality rate which increased to 9.38% were also analyzed. All results were compared to the ones from other authors, as well as from the national and international literature.

This paper studies all cases affected by 5 parotiditis from January to September 1986 (1767 cases) and 1987 (124 cases), as well as all patients with rubella reported in the same period in 1986 (584 cases) and 1987 (5 cases) in the province of Pinar del Río. The rise in the incidence of the two diseases with an annual basis per 100,000 population during 1986 in the different municipalities is emphasized. The overtly downward trend of these two diseases in 1987 after the administration of the triple viral vaccine--93% for mumps and 99.15% for rubella--is discussed. It was found that these two diseases affected more often school children (5-14 years). It was found that these two diseases are not frequent under the first year of life (76.4 and 120.1 cases per 100,000 population respectively). The percentage of vaccine effectiveness was documented--97.4% for parotiditis and 100% for rubella.