Macromolecular crowding sensing during osmotic stress in plants.

Osmotic stress conditions occur at multiple stages of plant life. Changes in water availability caused by osmotic stress induce alterations in the mechanical properties of the plasma membrane, its interaction with the cell wall, and the concentration of macromolecules in the cytoplasm. We summarize the reported players involved in the sensing mechanisms of osmotic stress in plants. We discuss how changes in macromolecular crowding are perceived intracellularly by intrinsically disordered regions (IDRs) in proteins. Finally, we review methods for dynamically monitoring macromolecular crowding in living cells and discuss why their implementation is required for the discovery of new plant osmosensors. Elucidating the osmosensing mechanisms will be essential for designing strategies to improve plant productivity in the face of climate change.

The role of single nucleotide variant rs3819817 of the Histidine Ammonia-Lyase gene and 25-Hydroxyvitamin D on bone mineral density, adiposity markers, and skin pigmentation, in Mexican population.

PURPOSE: Vitamin D (VD) deficiency and osteoporosis have become a global public health problem. A variant in the Histidine Ammonia-Lyase (HAL) gene has been associated with VD levels and bone mineral density (BMD). However, whether this variant has an influence on VD levels and BMD in Mexican adults remain unclear. METHODS: This cross-sectional analysis included 1,905 adults participating in the Health Worker Cohort Study and 164 indigenous postmenopausal women from the Metabolic Analysis in an Indigenous Sample (MAIS) cohort. The rs3819817 variant was genotyped by TaqMan probe assay. Total 25 hydroxyvitamin D levels were measured by DiaSorin Liaison. BMD at the different sites was assessed through dual-energy X-ray absorptiometry. Linear and logistic regression models were performed to evaluate the associations of interest. RESULTS: The prevalence of VD deficiency was 41%, showing differences between sexes. Obesity and skin pigmentation were associated with lower levels of VD in males and females. rs3819817-T allele was associated with low levels of 25-hydroxyvitamin D, VD deficiency, and hip and femoral neck BMD values (g/cm2). We found two interactions with VD levels, one between adiposity and rs3819817-T allele (P = 0.017) and another between skin pigmentation and rs3819817-T allele (P = 0.019). In indigenous postmenopausal women, we observed higher VD levels in the southern region compared to the northern region (P < 0.001); however, we did not observe differences by genotype. CONCLUSION: Our findings confirm that the genetic variant rs3819817 has an essential function in VD levels and BMD and suggests a role in skin pigmentation in the Mexican population.

Immune dysregulation and pathophysiology of alcohol consumption and alcoholic liver disease.

Alcoholic liver disease (ALD) is a clinical-pathologic entity caused by the chronic excessive consumption of alcohol. The disease includes a broad spectrum of anomalies at the cellular and tissual level that can cause acute-on-chronic (alcoholic hepatitis) or chronic (fibrosis, cirrhosis, hepatocellular cancer) injury, having a great impact on morbidity and mortality worldwide. Alcohol is metabolized mainly in the liver. During alcohol metabolism, toxic metabolites, such as acetaldehyde and oxygen reactive species, are produced. At the intestinal level, alcohol consumption can cause dysbiosis and alter intestinal permeability, promoting the translocation of bacterial products and causing the production of inflammatory cytokines in the liver, perpetuating local inflammation during the progression of ALD. Different study groups have reported systemic inflammatory response disturbances, but reports containing a compendium of the cytokines and cells involved in the pathophysiology of the disease, from the early stages, are difficult to find. In the present review article, the role of the inflammatory mediators involved in ALD progression are described, from risky patterns of alcohol consumption to advanced stages of the disease, with the aim of understanding the involvement of immune dysregulation in the pathophysiology of ALD.

Characterization of inflammatory bowel disease in Colombia: Results of a national register. / Caracterización de la enfermedad inflamatoria intestinal en Colombia: resultados de un registro nacional.

AIM: To determine the clinical, sociodemographic, and treatment characteristics of inflammatory bowel disease (IBD) in a Colombian population register. METHODS: A descriptive, analytic, observational, cross-sectional, multicenter study on patients with IBD from 17 hospital centers in 9 Colombian cities was conducted. RESULTS: A total of 2,291 patients with IBD were documented, 1,813 (79.1%) of whom presented with ulcerative colitis (UC), 456 (19.9%) with Crohn's disease (CD), and 22 with IBD unclassified (0.9%). The UC/CD ratio was 3.9:1. A total of 18.5% of the patients with UC and 47.3% with CD received biologic therapy. Patients with extensive UC had greater biologic therapy use (OR = 2.78, 95% CI: 2.10-3.65, p = 0.000), a higher surgery rate (OR = 5.4, 95% CI: 3.5-8.3, p = 0.000), and greater frequency of hospitalization (OR = 4.34, 95% CI: 3.47-5.44, p = 0.000). Patients with severe UC had greater biologic therapy use (OR = 5.04, 95% CI: 3.75-6.78, p = 0.000), a higher surgery rate (OR = 8.64, 95% CI: 5.4-13.78, p = 0.000), and greater frequency of hospitalization (OR = 28.45, 95% CI: 19.9-40.7, p = 0.000). CD patients with inflammatory disease behavior (B1) presented with a lower frequency of hospitalization (OR = 0.12, 95% CI: 0.07-0.19, p = 0.000), a lower surgery rate (OR = 0.08, 95% CI: 0.043-0.15, p = 0.000), and less biologic therapy use (OR = 0.26, 95% CI: 0.17-0.41, p = 0.000). CONCLUSION: In Colombia, there is a predominance of UC over CD (3.9:1), as occurs in other Latin American countries. Patients with extensive UC, severe UC, or CD with noninflammatory disease behavior (B2, B3) have a worse prognosis.

Noncoding RNAs as potential biomarkers for DIPG diagnosis and prognosis: XIST and XIST-210 involvement.

PURPOSE: Diffuse intrinsic pontine gliomas (DIPGs) are the most fatal primary brainstem tumors in pediatric patients. The identification of new molecular features, mediating their formation and progression, as non-coding RNAs (ncRNAs), would be of great importance for the development of effective treatments. METHODS: We analyzed the DIPGs transcriptome with the HTA2.0 array and it was compared with pediatric non-brainstem astrocytoma expression profiles (GSE72269). RESULTS: More than 50% of the differentially expressed transcripts were ncRNAs and based on this, we proposed a DIPGs ncRNA signature. LncRNAs XIST and XIST-210, and the HBII-52 and HBII-85 snoRNA clusters were markedly downregulated in DIPGs. qPCR assays demonstrated XIST downregulation in all non-brainstem astrocytomas, in a gender, age, and brain location-independent manner, as well as in DIPGs affecting boys; however, DIPGs affecting girls showed both downregulation and upregulation of XIST. Girls' with longer survival positively correlated with XIST expression. CONCLUSIONS: The involvement of ncRNAs in DIPGs is imminent and their expression profile is useful to differentiate them from non-neoplastic tissues and non-brain stem astrocytomas, which suggests their potential use as DIPG biomarkers. In fact, XIST and XIST-210 are potential DIPG prognostic biomarkers.

Production of insulin-like growth factor-binding proteins during the development of hepatic fibrosis due to chronic hepatitis C. / Producción de las proteínas de unión al factor de crecimiento insulinoide durante el desarrollo de la fibrosis hepática por hepatitis C crónica.

INTRODUCTION AND AIMS: Insulin-like growth factor 1 is modulated by the insulin-like growth factor-binding proteins (IGFBPs) that are synthesized in the liver. The aim of the present study was to evaluate the concentrations of IGFBPs 1-7 in patients with chronic hepatitis C and study their association with fibrosis stage. PATIENTS AND METHODS: A prospective, cross-sectional study was conducted that included patients with chronic hepatitis C. The stages of fibrosis were determined through FibroTest and FibroScan and the patients were compared with a control group. Serum levels of IGFBPs 1-7 were quantified through multiple suspension arrays. The Kruskal-Wallis test, Mann-Whitney U test, Spearman's correlation, and ROC curves were used for the statistical analysis. RESULTS: Upon comparing the patients and controls, the highest concentrations were found in IGFBPs 1, 2, 4, and 7 (p=0.02, p=0.002, p=0.008, and p<0.001, respectively). IGFBP-3 levels had a tendency to be lower in the patients (p=0.066), whereas values were similar between patients and controls for IGFBP-5 and 6 (p=0.786 and p=0.244, respectively). Of the seven IGFBPs, IGFBP-3 concentrations were the highest. There were significant differences between fibrosis stages for IGFBP-5 and IGFBP-7. CONCLUSION: IGFBPs play a relevant role in the fibrotic process in liver damage. IGFBP-7, in particular, differentiates fibrosis stages, making it a potential serum biomarker.

Double-balloon enteroscopy: Experience with an innovative endoscopic technique at the Hospital Universitario de la Fundación Santa Fe de Bogotá. / Enteroscopia de doble balón: experiencia de una técnica endoscópica innovadora en el Hospital Universitario de la Fundación Santa Fe de Bogotá.

INTRODUCTION AND AIMS: Double-balloon enteroscopy is a recently introduced endoscopic method that enables complete visualization of the small bowel, as well as biopsy sampling and therapeutic interventions in that part of the intestine. The aim of the present study was to describe the experience acquired at our hospital to determine the characteristics of the patients that underwent the procedure. MATERIALS AND METHODS: A descriptive, cross-sectional study was conducted on all patients above 18 years of age admitted to the Hospital Universitario de la Fundación Santa Fe de Bogotá for double-balloon enteroscopy, within the time frame of January 2013 to December 2017. RESULTS: The study sample included 93 procedures in 73 patients. Mean patient age was 57.91 years, with a similar number of men and women. There were no severe complications. The most frequent indication for the enteroscopy was gastrointestinal bleeding (overt or occult), presenting in 49.46% of the patients, followed by chronic diarrhea (16.13%). Video capsule endoscopy was the previous study most frequently performed (53.76%). Anterograde double-balloon enteroscopy was carried out in 49 patients and 44 patients underwent the retrograde procedure. A total of 86.02% of the enteroscopies were diagnostic procedures and 13.98% were therapeutic. Normal enteroscopy was the most frequent finding (59.68%), followed by the presence of ulcers (15.05%). CONCLUSIONS: Our results were similar to those reported worldwide, with respect to indications, insertion route, and insertion depth, and there were no severe complications.

The BeWo cell line derived from a human placental choriocarcinoma is permissive for respiratory syncytial virus infection.

The respiratory syncytial virus (RSV) is the main pathogen associated with upper respiratory tract infections during early childhood. Vertical transmission of this virus has been suggested in humans, based on observations recorded during animal studies that revealed an association of RSV with persistent structural and functional changes in the developing lungs of the offspring. However, human placentas have not yet been evaluated for susceptibility to RSV infection. In this study, we examined the capacity of RSV to infect a human trophoblast model, the BeWo cell line. Our results suggest that BeWo cells are susceptible to RSV infection since they allow RNA viral replication, viral protein translation, leading to the production of infectious RSV particles. In this report, we demonstrate that a human placenta model system, consisting of BeWo cells, is permissive to RSV infection. Thus, the BeWo cell line may represent a useful model for studies that aim to characterize the events of a possible RSV infection at the human maternal-fetal interface.

Oxidative Stress in Spinocerebellar Ataxia Type 7 Is Associated with Disease Severity.

Spinocerebellar ataxia type 7 is a neurodegenerative inherited disease caused by a CAG expansion in the coding region of the ATXN7 gene, which results in the synthesis of polyglutamine-containing ataxin-7. Expression of mutant ataxin-7 disturbs different cell processes, including transcriptional regulation, protein conformation and clearance, autophagy, and glutamate transport; however, mechanisms underlying neurodegeneration in SCA7 are still unknown. Implication of oxidative stress in the pathogenesis of various neurodegenerative diseases, including polyglutamine disorders, has recently emerged. We perform a cross-sectional study to determine for the first time pheripheral levels of different oxidative stress markers in 29 SCA7 patients and 28 age- and sex-matched healthy subjects. Patients with SCA7 exhibit oxidative damage to lipids (high levels of lipid hydroperoxides and malondialdehyde) and proteins (elevated levels of advanced oxidation protein products and protein carbonyls). Furthermore, SCA7 patients showed enhanced activity of various anti-oxidant enzymes (glutathione reductase, glutathione peroxidase, and paraoxonase) as well as increased total anti-oxidant capacity, which suggest that activation of the antioxidant defense system might occur to counteract oxidant damage. Strikingly, we found positive correlation between some altered oxidative stress markers and disease severity, as determined by different clinical scales, with early-onset patients showing a more severe disturbance of the redox system than adult-onset patients. In summay, our results suggest that oxidative stress might contribute to SCA7 pathogenesis. Furthermore, oxidative stress biomarkers that were found relevant to SCA7 in this study could be useful to follow disease progression and monitor therapeutic intervention.

Oxidative modifications of foetal LDL-c and HDL-c lipoproteins in preeclampsia.

BACKGROUND: Oxidative modifications have been observed in lipids and proteins in lipoproteins isolated from women with preeclampsia. Thus, newborns could also be susceptible to this damage directly through their mothers. In this study, we evaluated the oxidative profile of LDL-c and HDL-c lipoproteins isolated from the umbilical cord from newborns born to women with preeclampsia. METHODS: Thirty newborns born to women with preeclampsia and thirty newborns born to women with healthy pregnancies were included. Lipid-damage biomarkers, including conjugated dienes, lipohydroperoxides and malondialdehyde, were measured. The reduction of nitroblue tetrazolium, formation of dityrosines, and carbonylation of proteins were assessed as indicators of protein damage. The protective activity of paraoxonase-I on HDL-c particles was evaluated. The total antioxidant capacity and lipid profiles were quantified in plasma. Data were analysed using Student's t-tests and Pearson correlation coefficients. RESULTS: Compared with the control group, the preeclampsia group had an increase in the percentage of lipid damage in both lipoproteins. There was an increase of 23.3 and 19.9% for conjugated dienes, 82.4 and 21.1% for lipohydroperoxides, and 103.8 and 51.5% for malondialdehyde in LDL-c and HDL-c, respectively. However, these infants did not show evident damage in protein oxidation. The activity of the enzyme paraoxonase-I was decreased by 36.2%; by contrast, the total antioxidant capacity was increased by 40% (protein) and 28.8% (non-protein). CONCLUSIONS: The oxidative modifications that occur in HDL-c and LDL-c isolated from newborns from women with preeclampsia are mainly caused by lipoperoxidation processes related to evident paraoxonase-I inactivation. The absence of protein damage is likely linked to an increase in total antioxidant capacity. Therefore, antioxidant support could be helpful in reducing oxidative stress in mother/newborn dyads.

Oxidative profiles of LDL and HDL isolated from women with preeclampsia.

BACKGROUND: Oxidative stress causes biochemical changes in lipids and proteins; these changes can induce damage to the vascular endothelium and create maternal complications that are characteristic of preeclampsia. In this study, we evaluated the oxidative profile of lipoproteins isolated from women with preeclampsia. METHODS: Thirty women diagnosed with preeclampsia and thirty women without preeclampsia were included in the study. Lipid-damage biomarkers, including conjugated dienes, lipohydroperoxides and malondialdehyde, were measured. The reduction of nitroblue tetrazolium, the formation of dityrosines, and the carbonylation of proteins were assessed as indicators of protein damage. The protective activity of HDL-c was evaluated by the paraoxonase-I activity present on the HDL-c particles. Serum lipid profiles were also quantified in both groups. Data were analysed using Student's t test and the Pearson correlation coefficient. RESULTS: Our results demonstrated in PE women evident oxidative changes in the lipids and proteins in HDL-c and LDL-c particles and the activity of the antioxidant enzyme PON-I decreased 59.9%. HDL-c exhibited self-defence, as demonstrated by the negative correlation between paraoxonase-I activity and the formation of lipohydroperoxides in HDL-c (r = -0.3755, p < 0.005). CONCLUSIONS: LDL-c and HDL-c isolated from women with preeclampsia show oxidative damage to lipids and proteins. We propose an oxidative profile based on the oxidation levels indicated by each of the markers used. We also found that paraoxonase-I is inactivated in the presence of lipohydroperoxides. Antioxidant support might be helpful to reduce oxidative stress in patients with preeclampsia. Further investigations are necessary to define the association between antioxidant activities and preeclampsia.

[Vagus nerve stimulation: treatment of 158 pediatric patients with a long-term follow-up]. / Estimulador del nervio vago: tratamiento en 158 pacientes pediatricos con un largo seguimiento.

AIM: To describe a series of patients with drug resistant epilepsy treated with vagus nerve stimulation in a national pediatric hospital, evaluating efficacy, safety and tolerability. PATIENTS AND METHODS: A retrospective analysis of 158 pediatric patients with epilepsy resistant to pharmacological and non pharmacological treatment including surgery that were treated with vagus nerve stimulation between 2001-2015. Patients with progressive encephalopathies, and congenital heart disease were excluded. RESULTS: 158 patients (80 male) were included, with a mean age at implantation of 11.4 years and a mean age at evolution of epilepsy of 9.5 years. Time of follow-up: 1-15 years (median: 6.9 years). Patient's age at this time: 2-31 years (median: 14.1 years). Effectiveness: 66.5% of patients showed more or equal at 50% of seizure control at 24 months of implant. Just three patients showed severe side effects (1.8%). Minor side effects were seen in 26 patients (16.4%). Without side effects: 129 (81.8%). CONCLUSION: Vagus nerve stimulation is an effective, tolerable and safe therapy in our pediatric series with refractory epilepsy.

TITLE: Estimulador del nervio vago: tratamiento en 158 pacientes pediatricos con un largo seguimiento.Objetivo. Describir una poblacion pediatrica de pacientes con epilepsia farmacorresistente tratada con estimulador del nervio vago en un hospital nacional de pediatria, evaluando la eficacia, la tolerabilidad y la seguridad del tratamiento. Pacientes y metodos. Se realizo un analisis retrospectivo de 158 pacientes pediatricos seguidos por epilepsia refractaria al tratamiento farmacologico y no farmacologico, incluida la cirugia, que fueron tratados con estimulador del nervio vago entre los años 2001 y 2015. Se excluyeron pacientes con encefalopatias evolutivas y cardiopatias congenitas. Resultados. Se incluyeron 158 pacientes (80 varones) con una edad media de implante de 11,4 años y un tiempo de evolucion de epilepsia preimplante de 9,5 años. El tiempo de seguimiento fue de 1-15 años (mediana: 6,9 años); la edad actual de los pacientes, 2-31 años (mediana: 14,1 años). A los 24 meses postimplante, un 66,5% de los pacientes presento una mejoria mayor o igual al 50% de las crisis previas. Solo tres pacientes (1,8%) presentaron efectos adversos graves, 26 (16,4%) mostraron efectos adversos menores y 129 (81,8%) no mostraron efectos adversos al tratamiento. Conclusion. La terapia con estimulador del nervio vago en esta serie pediatrica con epilepsia refractaria fue eficaz, bien tolerada y segura.

Validation of the instrumented evaluation of spatio-temporal gait parameters in patients with motor incomplete spinal cord injury.

STUDY DESIGN: Observational, descriptive, transversal. OBJECTIVES: To evaluate the validity and reliability of spatio-temporal gait parameters measured by GaitRite in motor incomplete spinal cord-injured (SCI) patients. SETTING: National Institute of Rehabilitation, Mexico city. METHODS: 23 motor subacute and chronic incomplete SCI American Spinal Cord Injury Association Impairment Scale (AIS) D subjects were measured. The 10-meter walking test (10 MWT), 6-minute walking test (6 MWT), Walking Index for Spinal Cord Injury II (WISCI-II), Spinal Cord Independence Measure III (SCIM-III) and the GaitRite evaluation were carried out concurrently in order to determine validity. The 10 MWT and GaitRite evaluation were performed at different occasions in order to determine test-retest reliability. RESULTS: GaitRite offers a valid and reliable way to measure the mobility, symmetry and stability characteristics of gait SCI subjects. GaitRite precision and sensitivity is approximately three times better than clinical tests. Clinical tests cannot address the stability properties of gait. Subjects' higher gait velocity is related to more independence (SCIM-III), lower use of walking aids (WISCI-II), better performance in lower extremities motor score (LEMS) and better gait's mobility. CONCLUSIONS: Spatio-temporal gait parameters measured by GaitRite are both valid and reliable. Further studies are necessary to establish sensitivity of the instrument.

Application of Focused Ultrasound-Assisted Extraction for the Quantification of Persistent Organic Pollutions in Liver Tissue of Giant Toad (Rhinella marina).

A simple and rapid focused ultrasound extraction method was developed for the determination of Persistent Organic Pollutants (POPs) in liver tissue obtained of giant toad (Rhinella marina) using a gas chromatography coupled to a mass detector with electron impact ionization. The performed method for POPs, was validated in fortified matrix, showing linearity from the LOQ up to 100 ng/mL; LODs and LOQs for each compound were between 1.7 and 4.8 and 3.5-7.5 ng/mL, respectively. Recovery rates were among 79%-116% for POPs determined. Finally, the method was applied in liver samples of giant toads found in a malarial area in Mexico. The sensitivity of the proposed method was good enough to ensure reliable determination of target analytes at concentration levels commonly found in this kind of samples.

Reparación de fístula urogenital con interposición de injerto biológico de submucosa intestinal / Urogenital fistula repair with intestinal submucosa biological graft interposition

Resumen ANTECEDENTE: el tratamiento de una fístula genitourinaria compleja es un reto por las múltiples dificultades para conseguir un resultado exitoso; el injerto biológico de intestino porcino puede ser una opción en estos casos. OBJETIVO: describir el diagnóstico de las fístulas genito-urinarias y su reparación con una innovadora interposición de injerto biológico de intestino delgado porcino. MATERIALES Y MÉTODOS: estudio prospectivo de serie de casos con diagnóstico de fístula vésico-vaginal y uretro-vaginal de pacientes atendidas en el Instituto Nacional de Perinatología entre los años 2012 a 2014. Descripción de los datos demográficos de cada paciente, proceso diagnóstico-clínico y estudios de gabinete y laboratorio; características de la fístula, técnica quirúrgica y seguimiento. RESULTADOS: se estudiaron 5 pacientes con fístulas tipo III o vésico-vaginales localizadas en el trígono, 3 de ellas relacionadas con cirugía ginecológica y 2 con un evento obstétrico, y una tipo I o uretrovaginal en la uretra proximal, relacionada con parto instrumentado. En el cierre del segundo plano, para la colocación del injerto biológico, se aplicó la técnica de reparación de Latzko modificada. Una paciente tuvo 4 reparaciones previas, otra una reparación previa y el resto ninguna. El tamaño varió de 0.5 cm a 3 cm. El seguimiento posoperatorio no evidenció recurrencia; una paciente tuvo incontinencia urinaria de esfuerzo un año después. El seguimiento mínimo fue de 1 y el máximo de 2 años. No se registraron complicaciones posoperatorias. CONCLUSIÓN: el injerto de mucosa de intestino delgado porcino para la reparación de fístulas urogenitales complejas y recurrentes fue efectivo en todas las pacientes.

Abstract BACKGROUND: treatment of a complex genitourinary fistula is a challenge given the multiple difficulties to achieve a successful result, the biological grafting of porcine intestine can be an option in these cases. OBJECTIVE: to describe the diagnosis of genitourinary fistulas and their repair with an innovative interposition of small intestine porcine biological graft. MATERIALS AND METHODS: a prospective trial of a series of cases with a diagnosis of vesicovaginal and urethrovaginal fistula in patients of the Instituto Nacional de Perinatología between 2012 to 2014. Description of patient demographics, diagnostic and clinical process, imaging and lab tests; characteristics of the fistula, surgical technique and follow up. RESULTS: 5 patients with type III or vesicovaginal fistulas located in the trigone were studied, 3 of the fistulas are related to gynecological surgery and 2 with an obstetric event and one type 1 or urethrovaginal in the proximal urethra caused by an instrumented delivery. In the closure of the second layer for placement of the biological graft, we applied the modified Latzko repair technique. One patient had 4 previous repairs, another one had one previous repair and the rest had none. The size varied from 0.5 cm to 3 cm. The postoperative follow-up period did not show recurrence; one patient had stress urinary incontinence one year later. The minimum follow-up was 1 year and the maximum 2 years. No postoperative complications were reported. CONCLUSION: the porcine small intestinal submucosa graft for the repair of complex and recurrent urogenital fistulas was effective in all patients.

Infecciones de transmisión sexual: Un problema de salud pública en el mundo y en Venezuela / Sexually transmitted infections: A public health problem in the world and in Venezuela

Sexually transmitted infections are sexually transmitted and non-sexual way; in which the study, prevention and treatment are very important for the health of the individual, the family and society. These infections affect men and women in sexually active age, but more often in young adults. Because of its high morbidity and mortality, it causes adverse effects on quality of life, reproductive health and child in families, and a heavy economic and health burden due to high medical costs attributable to the payment of facilities and medical treatment and loss of productivity for the time these patients spend without engaging in productive activities; including the disfiguring lesions in genitals and psychological disorders caused by these infections in patients. It is very important to know these infections, etiology, transmission, clinical frame, complications and treatment; and sexual behaviors that means a risk for acquisition, which will result in a transcendental element in its management through prevention and sex education.

Las infecciones de transmisión sexual son transmisibles sexualmente y por vía no sexual, cuyo estudio, prevención y tratamiento son de gran importancia para la salud del individuo, la familia y la sociedad. Estas infecciones afectan a hombres y mujeres en edades sexualmente activas, aunque más frecuentemente a los adultos jóvenes. Por su alta morbilidad y mortalidad ocasionan efectos adversos en la calidad de vida, salud reproductiva y del niño en las familias, y una pesada carga económica y sanitaria por los altos costos médicos, imputables al pago de servicios y de tratamientos médicos y a la pérdida en la productividad por el tiempo que pasan estas personas enfermas sin poder desempeñar una actividad productiva, además de las lesiones desfigurantes presentes en los genitales y trastornos psicológicos ocasionados por estas infecciones en los pacientes. Resulta muy importante el conocimiento de estas infecciones, su etiología, transmisión, cuadro clínico, complicaciones y tratamiento; así como las conductas sexuales que significan riesgo para su adquisición, lo que redundará en un elemento trascendental en su manejo, mediante la prevención y la educación sexual.

Illumina next generation sequencing data and expression microarrays data from retinoblastoma and medulloblastoma tissues.

Retinoblastoma (Rb) is a pediatric intraocular malignancy and probably the most robust clinical model on which genetic predisposition to develop cancer has been demonstrated. Since deletions in chromosome 13 have been described in this tumor, we performed next generation sequencing to test whether recurrent losses could be detected in low coverage data. We used Illumina platform for 13 tumor tissue samples: two pools of 4 retinoblastoma cases each and one pool of 5 medulloblastoma cases (raw data can be found at http://www.ebi.ac.uk/ena/data/view/PRJEB6630). We first created an in silico reference profile generated from a human sequenced genome (GRCh37p5). From this data we calculated an integrity score to get an overview of gains and losses in all chromosomes; we next analyzed each chromosome in windows of 40 kb length, calculating for each window the log2 ratio between reads from tumor pool and in silico reference. Finally we generated panoramic maps with all the windows whether lost or gained along each chromosome associated to its cytogenetic bands to facilitate interpretation. Expression microarrays was done for the same samples and a list of over and under expressed genes is presented here. For this detection a significance analysis was done and a log2 fold change was chosen as significant (raw data can be found at http://www.ncbi.nlm.nih.gov/geo/accession number GSE11488). The complete research article can be found at Cancer Genetics journal (Garcia-Chequer et al., in press) [1]. In summary here we provide an overview with visual graphics of gains and losses chromosome by chromosome in retinoblastoma and medulloblastoma, also the integrity score analysis and a list of genes with relevant expression associated. This material can be useful to researchers that may want to explore gains and losses in other malignant tumors with this approach or compare their data with retinoblastoma.

Overview of recurrent chromosomal losses in retinoblastoma detected by low coverage next generation sequencing.

Genes are frequently lost or gained in malignant tumors and the analysis of these changes can be informative about the underlying tumor biology. Retinoblastoma is a pediatric intraocular malignancy, and since deletions in chromosome 13 have been described in this tumor, we performed genome wide sequencing with the Illumina platform to test whether recurrent losses could be detected in low coverage data from DNA pools of Rb cases. An in silico reference profile for each pool was created from the human genome sequence GRCh37p5; a chromosome integrity score and a graphics 40 Kb window analysis approach, allowed us to identify with high resolution previously reported non random recurrent losses in all chromosomes of these tumors. We also found a pattern of gains and losses associated to clear and dark cytogenetic bands respectively. We further analyze a pool of medulloblastoma and found a more stable genomic profile and previously reported losses in this tumor. This approach facilitates identification of recurrent deletions from many patients that may be biological relevant for tumor development.