Neurocisticercosis y epilepsia post-infección en un paciente de 70 años de edad

La Neurocisticercosis es una forma rara de presentación de la infestación por el helminto intestinal Taenia solium. Se reporta un caso que acude a la consulta por presentar un cuadro convulsivo generalizado con pérdida de la conciencia, sin antecedentes de epilepsia y que radicó en Venezuela. Se le indicó Resonancia Magnética y otros estudios. Es tratado y continúa su evolución en Cienfuegos. Presenta una nueva convulsión y luego de varios exámenes se diagnostica como Epilepsia Post-Neurocisticercosis.ABSTRACTNeurocysticercosis is a rare presentation of intestinal helminth infestation by Taenia solium. To the consult came a patient who presented a generalized seizure disorder with loss of consciousness, with no history of epilepsy and settled in Venezuela. An MRI and other studies were indicated. He is treated and continued evolution in Cienfuegos. Presents a new seizure and after several tests is diagnosed as Post-Neurocysticercosis Epilepsy

DNA Glycosylases Involved in Base Excision Repair May Be Associated with Cancer Risk in BRCA1 and BRCA2 Mutation Carriers

Peer reviewe

Result of Surgery to Patients with Brain Tumor in Cienfuegos

Foundation: brain tumors cause high mortality, decrease in quality of life and impact negatively family health. Objective: to describe the results of surgical interventions to patients with brain tumors in Cienfuegos between January 2012 and December 2015. Methods: a cross-sectional descriptive study was carried out at the General University Hospital Dr. Gustavo Aldereguía Lima de Cienfuegos, covering the period between January 2012 and December 2015. The universe consisted of 53 patients. The variables studied were: age, sex, history of chronic diseases, history of neoplasia of another location, onset syndrome, anatomical location according to the imaging study performed, degree of macroscopic cytoreduction, Karnofsky scale, tumor type, postoperative complications and survival after six months of surgery. The analysis was based on descriptive and inferential statistics. Results: there was a slight predominance of females over males. 67.9 % of the patients did not present associated comorbidity, 45.3 % started as an endocranial hypertension syndrome, 81.9 % had supratentorial localization and 73.6 % had total macroscopic tumor cytoreduction. The most frequent histological type was astrocytoma 34 %. There was a 60.4 % survival at six months and only 6.2 % had a quality of life lower than 70 points according to the Karnofsky Scale. Conclusion: a greater survival was associated with meningothelial meningioma, emphasizing lethality in grade IV astrocytomas and lung metastasis. The most frequent and associated mortality complication was postoperative neurological deterioration

DNA Glycosylases Involved in Base Excision Repair May Be Associated with Cancer Risk in BRCA1 and BRCA2 Mutation Carriers

Single Nucleotide Polymorphisms (SNPs) in genes involved in the DNA Base Excision Repair (BER) pathway could be associated with cancer risk in carriers of mutations in the high-penetrance susceptibility genes BRCA1 and BRCA2, given the relation of synthetic lethality that exists between one of the components of the BER pathway, PARP1 (poly ADP ribose polymerase), and both BRCA1 and BRCA2. In the present study, we have performed a comprehensive analysis of 18 genes involved in BER using a tagging SNP approach in a large series of BRCA1 and BRCA2 mutation carriers. 144 SNPs were analyzed in a two stage study involving 23,463 carriers from the CIMBA consortium (the Consortium of Investigators of Modifiers of BRCA1 and BRCA2). Eleven SNPs showed evidence of association with breast and/or ovarian cancer at p<0.05 in the combined analysis. Four of the five genes for which strongest evidence of association was observed were DNA glycosylases. The strongest evidence was for rs1466785 in the NEIL2 (endonuclease VIII-like 2) gene (HR: 1.09, 95% CI (1.03-1.16), p = 2.7×10 −3) for association with breast cancer risk in BRCA2 mutation carriers, and rs2304277 in the OGG1 (8-guanine DNA glycosylase) gene, with ovarian cancer risk in BRCA1 mutation carriers (HR: 1.12 95%CI: 1.03-1.21, p = 4.8×10 −3). DNA glycosylases involved in the first steps of the BER pathway may be associated with cancer risk in BRCA1/2 mutation carriers and should be more comprehensively studied. Women harboring a germ-line mutation in the BRCA1 or BRCA2 genes have a high lifetime risk to develop breast and/or ovarian cancer. However, not all carriers develop cancer and high variability exists regarding age of onset of the disease and type of tumor. One of the causes of this variability lies in other genetic factors that modulate the phenotype, the so-called modifier genes. Identification of these genes might have important implications for risk assessment and decision making regarding prevention of the disease. Given that BRCA1 and BRCA2 participate in the repair of DNA double strand breaks, here we have investigated whether variations, Single Nucleotide Polymorphisms (SNPs), in genes participating in other DNA repair pathway may be associated with cancer risk in BRCA carriers. We have selected the Base Excision Repair pathway because BRCA defective cells are extremely sensitive to the inhibition of one of its components, PARP1. Thanks to a large international collaborative effort, we have been able to identify at least two SNPs that are associated with increased cancer risk in BRCA1 and BRCA2 mutation carriers respectively. These findings could have implications not only for risk assessment, but also for treatment of BRCA1/2 mutation carriers with PARP inhibitors

p-values of association (−log10 scale) with breast cancer risk in <i>BRCA2</i> carriers for genotyped and imputed SNPs in the <i>NEIL2</i> gene.

<p>SNP rs1466785 is indicated with a purple arrow and the best causal imputed SNPs, rs804276 and rs804271 are indicated with a red arrow. Colors represent the pariwise r². Plot generated with LocusZoom <a href="http://www.plosgenetics.org/article/info:doi/10.1371/journal.pgen.1004256#pgen.1004256-Pruim1" target="_blank">[42]</a> (<a href="http://csg.sph.umich.edu/locuszoom/" target="_blank">http://csg.sph.umich.edu/locuszoom/</a>).</p

Associations with breast and ovarian cancer risk for SNPs observed at p-trend<0.05 in stage II of the experiment.

a<p>Hazard Ratio per allele (1 df) estimated from the retrospective likelihood analysis.</p>b<p>Hazard Ratio under the genotype specific models (2df) estimated from the retrospective likelihood analysis.</p>c<p>p-values were based on the score test.</p>d<p>HR per allele of 1.69 and p-trend of 1×10⁻⁴ for <i>BRCA2</i> mutation carriers in stage I of the study.</p>e<p>HR per allele of 1.43 and p-trend of 0.01 for <i>BRCA1</i> mutation carriers in stage I of the study.</p>f<p>HR per allele of 1.30 and p-trend of 0.03 for <i>BRCA1</i> mutation carriers in stage I of the study.</p>g<p>HR per allele of 0.64 and p-trend of 0.057 for <i>BRCA2</i> mutation carriers in stage I of the study.</p>h<p>HR per allele of 1.25 and p-trend of 0.04 for <i>BRCA1</i> mutation carriers in stage I of the study.</p>i<p>HR per allele of 1.25 and p-trend of 0.058 for <i>BRCA2</i> mutation carriers in stage I of the study.</p>j<p>rs3093926 did not yield results under the genotype specific model due to the low minor allele frequency.</p><p>Complete description of results from stage I are included in Supplementary <a href="http://www.plosgenetics.org/article/info:doi/10.1371/journal.pgen.1004256#pgen.1004256.s002" target="_blank">Table S1</a>.</p><p>Highlighted in bold are those SNPs showing strongest associations with breast or ovarian cancer risk (p<0.01).</p