CSF analysis for protein biomarker identification in patients with leptomeningeal metastases from CNS lymphoma.

INTRODUCTION: Leptomeningeal metastases (LM) from lymphoma remain a difficult complication for oncologist due to the high incidence in morbidity and mortality. Early diagnostic and initiation of treatment are essential to prevent neurological deterioration. Areas covered: In this review, several proteomic approaches are described in order to help and provide the basis for the identification of biomarkers useful in early diagnosis, also in discovery novel targets for therapeutic agents. In fact, the identification of biomarkers will have a high potential to detect leptomeningeal lymphoma, as well as to predict its progression and treatment response. Expert commentary: In the case of LM by Central nervous system (CNS) lymphoma, these studies generated the first insights into the utility of proteomic analysis for biomarker identification and will be demonstrated that identifying specific proteins in cerebrospinal fluid (CSF) had much greater sensitivity for detecting LM in comparison to standard cytological protocols.

[THE INFLUENCE OF THE POLYUNSATURATED FATTY ACIDS IN THE PREVENTION AND PROMOTION OF CANCER]. / INFLUENCIA DE LOS ÁCIDOS GRASOS POLIINSATURADOS EN LA PREVENCIÓN Y PROMOCIÓN DEL CÁNCER.

INTRODUCTION: each year, almost eight million people die in the world due to cancer. Carcinogenesis is a process that involves a series of structural alterations of the DNA which affect its stability and prevents proper cell reproduction and development. There are many factors that influence the cancer etiology. Nutritional factors are included among them. The polyunsaturated fatty acids (PUFA) intake is associated more and more with the prevention and development of chronic diseases with an inflammatory component such as cancer. OBJECTIVE: this work reviews the latest bibliography on the PUFA and its relationship with the cancer, mainly of prostate, breast and colon cancer. METHODS: the preliminary search resulted in 92 selected references. But, after their review, 40 experimental studies, in animals and in vitro, and epidemiological studies have been included. RESULTS: experimental studies in animals and in vitro reviewed show a protective effect of ω3 PUFA against cancer. However, human studies are contradictory; although it is clear there is evidence of the protective effect of the ω3 PUFA in colon cancer prevention. CONCLUSION: the relationship between ω6 and ω3 PUFA of the diet against the cancer risk is becoming increasingly important, but further studies are needed to confirm their influence on the development of this disease.

Introducción: alrededor de ocho millones de personas mueren anualmente en el mundo debido al cáncer. La carcinogénesis es un proceso que conlleva, entre otras, una serie de alteraciones de la estructura del ADN, afectando su estabilidad e impidiendo la correcta proliferación celular. Son muchos los factores que influyen en la etiología del cáncer. Dentro de dichos factores están los nutricionales. La ingesta de ácidos grasos poliinsaturados (AGPI) se relaciona cada vez más con la prevención y el desarrollo de enfermedades crónicas con un componente inflamatorio, como el cáncer. Objetivo: revisar la bibliografía más reciente de los últimos cinco años sobre la ingesta de AGPI y su relación con el cáncer, principalmente de próstata, mama y colon, para concretar la posible existencia de una evidencia científica concluyente al respecto. Método: la búsqueda preliminar en la literatura proporcionó 92 referencias. Finalmente, tras su revisión, se han incluido 40 estudios directamente relacionados, conformados por estudios experimentales, en animales e in vitro, así como estudios epidemiológicos. Resultados: los estudios experimentales en animales e in vitro revisados concluyen un efecto protector de los AGPI omega-3 frente al cáncer. Sin embargo, los estudios en humanos son contradictorios, aunque sí parece existir una clara evidencia del efecto protector de los AGPI 3 en la prevención del cáncer de colon. Conclusión: la relación entre AGPI 6 y AGPI 3 de la dieta frente al riesgo de padecer cáncer cobra cada vez más importancia, si bien se necesitan más estudios para confirmar su influencia en el desarrollo de esta enfermedad.

[Graves' disease with associated thyroid nodules (nodular Graves' disease). Clinical, diagnostic and therapeutic considerations]. / Enfermedad de Graves-Basedow con nódulos tioideos asociados (enfermedad de Graves-Basedow nodular). Consideraciones clínicas, diagnósticas y terapéuticas.

BACKGROUND: Sometimes Graves disease (GD) can appear in association with thyroid nodules, which seems to increase the risk of carcinoma. In this article, we try to establish clinical characteristics, diagnostic means and appropriate treatment for Graves patients with co-existent nodules. METHOD: A retrospective study was made of 153 consecutive patients who underwent operation for GD between 1967 and 2000. Each patient was subject to a regular protocol including physical examination, diagnostic test, total or subtotal thyroidectomy and follow-up in the long term with the purpose of making a valuation of the postsurgical morbidity, evolution and relapses. Data were processed through computing in order to get the statistical information. RESULTS: 28.1% of GD had thyroid nodules and carcinoma was diagnosed in four patients (9.3%), all of them belonging to papillary variety. Surgery consisted of 57 subtotal thyroidectomies (37.3%) and 94 total thyroidectomies. Parathyroid and recurrent morbidity was established in 4.6 and 3.9%, respectively, a year later since the operation, though it had a strong tendency to decrease from 1980. 96% of cases showed no relapse. CONCLUSIONS: Nodular GD is very common in our setting, especially in Graves patients with late beginning who wait for ages until they are undergone surgery. Initial treatment should be by means of braking therapy with antithyroid drugs and clinical, cytologic and ultrasonographic control. Surgery would be advised, from the outset or during the follow-up, in view of either any suspicion about cancer or presence of local growth. The procedure of choice is total thyroidectomy performed with low morbidity.

Huntington disease-unaffected fetus diagnosed from maternal plasma using QF-PCR.

The discovery of fetal DNA in maternal plasma from early pregnancies has led to new opportunities for clinical application. In the last few years there have been numerous reported applications, mainly fetal gender and RhD genotyping. The prenatal diagnosis of some inherited genetic diseases such as Huntington disease is also very frequently required in the prenatal diagnosis routine. We have successfully diagnosed, with a non-invasive procedure, an unaffected HD fetus at the 13th week of gestation using fetal DNA from maternal plasma and the quantitative fluorescent PCR method, which is one of the most sensitive ways to detect fetal DNA in maternal plasma at such an early time of gestation.

Prenatal detection of a cystic fibrosis mutation in fetal DNA from maternal plasma.

OBJECTIVES: Maternal plasma and serum are being used to detect fetal DNA by PCR in order to determine certain conditions such as fetal gender and RhD without invasive procedures. Because of the presence of maternal DNA in plasma, these approaches are limited to paternally inherited disorders or those de novo present in the fetus. We have assessed the possibility of performing the detection of a single-gene disorder such as a fetal paternally inherited Cystic Fibrosis mutation (Q890X) in maternal plasma. METHODS: The analysis was performed at 13 weeks of gestation using DNA extracted from maternal plasma. We used a PCR amplification of the Q890X mutation and a posterior restriction analysis of the PCR product. RESULTS: We were able to detect the presence of the mutation and thus the fetal condition of being a carrier of the paternal mutation. CONCLUSIONS: We have made evident the possibility of detecting an inherited paternal mutation in a non-invasive way at the 13t(hr) weeks of pregnancy. This methodology could be very useful in cases of paternally inherited dominant disorders. The technical improvements in fetal DNA detection and analysis might lead to the development of new applications in the non-invasive prenatal diagnosis field.

Chromosomal mosaicism for isochromosome 11q confined to CVS direct preparations.

OBJECTIVE: To analyse the discrepancy between the karyotype in direct preparations of chorionic villus sampling (CVS) and the fetal karyotype and its possible fetal phenotypic repercussion. METHODS: The karyotype was obtained from direct and cultured preparations of CVS. FISH was performed in direct CVS preparations and in four different areas of term placenta. RESULTS: Karyotype and FISH analysis in CVS revealed a 46,XX/47,XX,+i(11q) cell line. Cultured CVS preparations showed a 46,XX karyotype. Cytogenetic studies in term placenta did not reveal the abnormal cell line. Molecular studies did not detect uniparental disomy for chromosome 11 in the fetus. CONCLUSION: The fetus, at birth, had no phenotypic abnormalities. IUGR was not present during gestation, in accordance with the low proportion of aneuploid cells in term placenta, and UPD for chromosome 11 was not observed.

Nitric oxide synthase expression in the cerebral cortex of patients with epilepsy.

PURPOSE: Nitric oxide (NO), a short-lived radical synthesized from L-arginine by activation of the enzyme nitric oxide synthase (NOS), has been implicated in the pathophysiology of epilepsy by some investigators. However, the current data about NO and NOS in epilepsy are controversial and are derived only from animal models of epilepsy. In this study we investigated possible changes in NOS expression in the cerebral cortex of patients with epilepsy. METHODS: Qualitative and quantitative parameters of the immunolabeling pattern of the neuronal, endothelial, and inducible isoforms of NOS were analyzed in biopsy material obtained from patients with short and long seizure history and from patients without epilepsy. RESULTS: The comparative study showed that in the cerebral cortex of patients with epilepsy, particularly in those with a long seizure history, the number and labeling intensity of NOS-positive neurons increased, and that a subpopulation of nonpyramidal GABAergic neurons (type II NOS neurons) was responsible for this phenomenon. CONCLUSIONS: The fact that NOS upregulation is more evident in patients with a long seizure history suggests that this is a consequence of seizures, acting probably as an adaptative response to the sustained release of excitatory amino acids.

Two new cases of Cumming syndrome confirming autosomal recessive inheritance.

We report on two stillborn sisters with generalized hydrops, campomelia, cervical lymphocele, and polycystic dysplasia of kidney, liver, and pancreas. This syndrome conforms to that first described by Cumming et al. [Am. J. Med. Genet. 25:783-790, 1986]. This observation provides additional support for the notion that this syndrome has an autosomal recessive pattern of inheritance.

[Maze technique for the treatment of auricular fibrillation: initial experience]. / Técnica de MAZE para el tratamiento de la fibrilacion auricular: experiencia inicial.

INTRODUCTION AND OBJECTIVES: The MAZE procedure was developed as a surgical approach to the management of patients with atrial fibrillation refractory to medical treatment. This study seeks to identify the risk and benefits of adding the MAZE procedure in patients with atrial fibrillation undergoing surgery for underlying organic cardiac disorders. MATERIAL AND METHODS: Since november 1993, we have performed 10 interventions with the MAZE procedure, for the treatment of refractory atrial fibrillation. The indication to perform the technique was systemic embolism in 5 patients, contraindication for the anticoagulant treatment in two cases and no response to antiarrhythmic treatment in 5 cases. Two patients had more than one indication. In all the cases another surgical procedure was performed, 5 replacements of mitral valve, a mitral repair, one tricuspid repair and tree repairs of an atrial septal defect. RESULTS: Soon after surgery 9 patients were in sinus rhythm, and one in atrial fibrillation. Four patients needed atrial pacing during the first days. One patient required a pacemaker due to symptomatic sinus bradycardia. During the first 3 months, 4 patients had episodes of paroxysmal atrial fibrillation and flutter. One patient died suddenly one month after surgery. Seven patients have completed two years of follow-up, and are in stable sinus rhythm, in functional class I and free of antiarrhythmic drugs. All of them have echocardiographic evidence of mechanical activity in both atria. Left atrium had been reduced from 5.3 +/- 0.7 cm to 4.5 +/- 0.7 cm (p < 0.05). No patient has presented new embolic events. CONCLUSIONS: The MAZE procedure is a good choice in selected patients with atrial fibrillation refractory to medical treatment, or a precedent of systemic embolism. However, several problems can complicate the patient's course.

[An intimal sarcoma of the pulmonary artery. An immunohistochemical study]. / Sarcoma intimal de la arteria pulmonar. Estudio inmunohistoquímico.

Pulmonary artery intimal sarcomas tend to be presented with symptoms of pulmonary thromboembolism and grow regionally, with little capacity to metastasize. They probably originate from subendothelial cells, that become myofibroblasts. Knowledge of it is important to establish a presurgery diagnosis, with the possibility of a total resection, the only useful treatment until now. We report a case of a pulmonary artery primary sarcoma, in a 73 year old woman, admitted with hemoptysis and pleuritic chest pain, who died ten days after. Autopsy revealed an intraluminal mass at the pulmonary artery trunk, without regional nor distance involvement. Microscopic study showed a pleomorphic tumor with spindle and epithelioid cells, positive for actin, desmin and vimentin. All these data support the diagnosis of primary intimal sarcoma of the pulmonary artery. We want to emphasize the myogenic differentiation of the tumor, uncommon in previously reported cases.

[Endocrine metabolic and arterial pressure changes in morbidly obese patients treated with vertical gastroplasty]. / Modificaciones endocrino-metabólicas y de la presión arterial en obesos morbidos tratados mediante gastroplastia vertical.

When overweight surpasses 100% of the ideal weight, morbid obesity, the obese patients is condemned to a complete inability to work, social and sexual inability, and shall suffer from an increase in its morbidity and mortality. This depends to a large degree on the additions to the obesity of insulin resistance, carbohydrates intolerance, hypertriglyceridemia, hypercholesterolemia, and arterial hypertension, all of which is enveloped in a atmosphere of neuroendocrine alterations. An efficient method of treating this syndrome is weigh loss. Medical treatments have not achieved prolonged weight losses during long periods in morbid obese patients, which is a reason for surgery to try and propose new lines of treatment for these patients. The purpose of our study is to examine the effect of weight loss in 100 patients treated with vertical gastroplasty, on the metabolic disorders (triglycerides, cholesterol, glucose) and the arterial hypertension, which are considered to be risk factors in the mortality associated with morbid obesity. Our results indicate that the weight loss modified the metabolic conditions of the patients, with there being a decrease of the levels of triglycerides, cholesterol, glucose, and arterial pressure, after 6 to 12 months after the weigh loss.

[Miliary tuberculosis. Autopsy study of 29 cases]. / Tuberculosis miliar. Estudio autópsico de 29 casos.

A retrospective anatomoclinic study of 29 cases of miliary tuberculosis, selected from 2.808 necropsies carried out at Hospital Central de Asturias between 1971 and 1994, is described. Fifty eight per cent of the patients were older than 50 years. Predisposing factors were identified in 80%: diabetes, alcoholism, chronic hepatopaty, silicosis, chronic renal failure, immunessupresive treatment and malignant neoplasms. A premorten correct clinical diagnosis were done in 8 cases (27.5%) and were suspected in 4 (13.7%). Typical miliary radiologic pattern was established in 17%. The more frequently affected organs were lungs (100%), liver (82%), spleen (75%), lymphatic nodes (55%) and bone marrow (41%). Early diagnosis and treatment is nowadays more difficult because of increasing of cryptic tuberculosis, involvement of resistant organs (pancreas), new predisposing factors (chronic renal failure), new risk groups (AIDS) and lack of demonstrative clinical and radiologic findings, so is necessary to maintain suspect of this disease always in mind.

[Acute ++indomethacin-induced hepatitis in a female patient with asymptomatic primary biliary cirrhosis]. / Hepatitis aguda por indometacina en una enferma con cirrosis biliar primaria asintomática.

We present an infrequent case of acute hepatitis by indomethacin, in a patient with a primary biliary cirrhosis, previously not diagnosed and asymptomatic, in who during in the follow-up, with a persistent analytical pattern of disociated cholestasis, a liver biopsy was indicated, with the final diagnosis of chronic non-suppurative destructive cholangitis.

[Cancer of the surgically treated stomach: 46 cases. II: Therapeutic and survival aspects]. / Cáncer en el estómago operado: 46 casos. II parte: Aspectos terapéuticos y de supervivencia.

We made a retrospective study of stomach cancer operated in 46 cases between 1971 and 1988, based on therapeutic aspects and survival, observing that due to the generally late diagnosis of this neoplasm, the treatment, which is mainly surgical, produces a low 5-year survival rate in the majority of patients. In our series, partial gastrectomy was more predominant than total gastrectomy, and the overall 5-year survival is 11% and 13%, depending on whether postoperative mortality is included or not. We recommend the follow-up of all patients operated for benign gastric pathology, basically by endoscopy five years after the operation and throughout life, for the early diagnosis and improved prognosis of this neoplasm.

[MEN I (multiple endocrine neoplasia): patient screening and new tumor markers]. / MEN I: Screening de pacientes y nuevos marcadores tumorales.

Multiple endocrine neoplasia type I (men I) associates hyperparathyroidism with pancreatic tumors. The evaluation included the patient and its family, periodically. A good patient medical history, biochemical blood tests, carried out regularly and in an organised fashion, brings to the fore the diagnosis without difficulties. Tumoral markers are now being considered an important test for diagnosis and follow-up (gastrin, pancreatic peptid, prolactin...). The newest chromogranin is a polypeptidic group which increases in the blood of patients with endocrine neoplasias (including hyperparathyroidism and tumors of pancreatic islet cells). The specific neural enolase is increase in pancreatic islet cells tumor. The evaluation of S-100 substance, 7-B2 protein, neurotensin, alpha sub-unit of chorionic gonadothrophin and other markers will soon be of help in the diagnosis of men I.

[Cancer of the surgically treated stomach: 46 cases. Etiopathogenic, diagnostic and anatomopathologic aspects]. / Cáncer en el estómago operado: 46 casos. Aspectos etiopatogénicos, diagnósticos y anatomopatológicos.

A retrospective study was made of 46 patients with operated stomach cancer (CEO) between 1971 and 1988, with respect to etiopathogenic diagnostic and pathologic aspects; it occurs most often in stomachs previously submitted to Billroth II type partial gastrectomy and there is a highly variable symptom-free interval, from 6 and 46 years in our series. The diagnosis, which unfortunately is usually late, is based mainly on gastroscopy with biopsy and/or cytology. On pathological study epithelial tumors predominate, particularly Lauren's intestinal type.