The best approach for early prediction of fetal gender by using free fetal DNA from maternal plasma

OBJECTIVES: Detection of free fetal DNA (ffDNA) in maternal blood during pregnancy has given rise to the possibility of developing new noninvasive approaches for early prenatal diagnosis.On a large-scale study, two protocols of real-time polymerase chain reaction (PCR) were compared in order to establish which Y-specific locus, either multicopy DYS14 or single copy SRY sequence, was the most suitable for developing a test with high diagnostic efficiency for early fetal gender assessment. The second aim was to assess whether the combination of the two detection systems could increase the performance of the prenatal test. METHODS: We analyzed 145 plasma samples from healthy pregnant women between 11 and 12 weeks of singleton gestation. For each sample, fetal gender was determined by using both protocols (DYS14 and SRY) during the same real-time PCR run. RESULTS: The data obtained by the DYS14 and SRY assays showed an efficiency in fetal gender prediction of 97.9 and 80%, respectively. It is not advisable to combine the two protocols because this association does not help in further improvements in fetal gender prediction. CONCLUSIONS: DYS14 assay is the best approach for early fetal gender assessment because it is more sensitive, accurate, and efficient than the SRY assay.     

Maternal heterodisomy/isodisomy and paternal supernumerary ring of chromosome 7 in a child with Silver-Russell syndrome

Silver-Russell syndrome (SRS) is clinically variable although most cases have several common signs. Different chromosomes and chromosomal regions have been associated with SRS. Maternal uniparental disomy (UPD) of chromosome 7 is responsible for 5-10% of cases, probably because of an imbalance between maternal and paternal imprinted genes and more recently maternal duplication or epimutations in the 11p15 imprinted region have been described. To date, only two patients with maternal UPD7 and a mosaic condition for a supernumerary ring 7 marker have been reported, and we here report a further case. Standard QFQ banding of lymphocytes as well as fluorescence in-situ hybridization analyses were performed to identify and characterize the supernumerary marker. UPD testing was performed on both the patient's and parents' DNA using chromosome 7 microsatellite markers. The patient demonstrated a ring in about 4% of the analysed cells. On the basis of cytogenetic and molecular results, break points were tentatively identified as 7p11.2 and 7q21. Maternal hetero-/iso-UPD and a paternal origin for the supernumerary ring were demonstrated. Clinical data comparison between our patient who has a SRS phenotype and cases with hetero-/iso-UPD7 mat and mosaicism for a paternally derived chromosome 7 ring and previously reported ring 7 cases suggest that the SRS phenotype is probably because of the UPD rather than to the partial trisomy.     

Gender violence among teenagers: socialization and prevention

This Spanish-based study found that some adolescents link attractiveness with violence. Previous research showed that a socialization process within teenagers' contexts promotes this association. The results suggest that this link is one of the possible causes of the high rates of gender violence among youth. Debates regarding this research already have had political repercussions. Although the 2004 Spanish Act Against Gender Violence--the first of its kind in Europe--acknowledged violence with romantic partners or ex-partners, the 2008 Catalan Act on the Right of Women to Eradicate Chauvinist Violence also recognizes gender violence in dating, and considers preventive socialization as a main measure. This study provides key knowledge to support this purpose.     

Postpartum urinary stress incontinence: analysis of the associated risk factors and neurophysiological tests

AIM: The aim of this paper is to estimate the prevalence of postpartum urinary stress incontinence (USI) three months after vaginal delivery and to analyze the risk factors more frequently correlated with USI. Pelvic floor neurophysiology was performed to assess pudendal nerve damage in symptomatic women. METHODS: A total of 562 women were interviewed and underwent urogynecological evaluation three days after vaginal delivery. They were contacted by telephone 12 weeks later. Chart abstraction was conducted to obtain obstetrical data. Three months after delivery women presenting persistent USI were invited to return for electrophysiological tests. Univariate and logistic regression analyses were performed to reveal any significant association between USI and risk factors. RESULTS: Prevalence of postpartum USI three days after delivery was 15%, decreasing to 10.6% at follow-up three months later. Multivariate analysis of risk factors revealed that persistent USI was significantly associated with: preconception USI (P<0.05), USI developed de novo after delivery (P<0.05), family history of incontinence (P<0.05), chronic cough (P<0.05) and smoking (P<0.05). No obstetric variables were independently connected with incontinence. Neurophysiological tests revealed nerve damage in 36% of the symptomatic puerperae. CONCLUSION: Persistent postpartum incontinence is associated with several maternal and urogynecological risk factors that can help to detect women at risk for early intervention.     

Colorectal cancer mortality and industrial pollution in Spain

ABSTRACT: BACKGROUND: Records kept as a result of the implementation of Integrated Pollution Prevention and Control (IPPC) and the European Pollutant Release and Transfer Register (E-PRTR) constitute a public inventory of industries, created by the European Commission, which is a valuable resource for monitoring industrial pollution. Our objective is to ascertain whether there might be excess colorectal cancer mortality among populations residing in the vicinity of Spanish industrial installations that are governed by the IPPC Directive and E-PRTR Regulation and report their emissions to air. METHODS: An ecological study was designed to examine colorectal cancer mortality at a municipal level (8098 Spanish towns), over the period 1997-2006. We conducted an exploratory "near vs. far" analysis to estimate the relative risks (RR) of towns situated at a distance of less than 2 km from industrial installations. The analysis was repeated for each of the 24 industrial groups. RR and their 95 % credible/confidence intervals (95%CI) were estimated on the basis of Poisson regression models, using two types of modelling: a) the conditional autoregressive Bayesian model proposed by Besag, York and Mollie, with explanatory variables; and b) a mixed regression model. Integrated nested Laplace approximations were used as a Bayesian inference tool. RESULTS: Statistically significant RRs were detected in the vicinity of mining industry (RR 1.258; 95%CI 1.082 - 1.463), paper and wood production (RR 1.071; 95%CI 1.007 - 1.140), food and beverage sector (RR 1.069; 95%CI 1.029 - 1.111), metal production and processing installations (RR 1.065; 95 % CI 1.011 - 1.123) and ceramics (RR 1.050 ; 95%CI 1.004 - 1.099). CONCLUSIONS: Given the exploratory nature of this study, it would seem advisable to check in other countries or with other designs, if the proximity of industries that emit pollutants into the air could be an added risk factor for colorectal cancer mortality. Nevertheless, some of the differences between men and women observed in the analyses of the industrial groups suggest that there may be a component of occupational exposure, little-studied in the case of cancers of the digestive system.     

Adult extracardiac rhabdomyomas presenting as a slowly growing neck mass

Rhabdomyomas are rare benign tumors arising from skeletal muscle cells, most common cardiac in origin and usually seen in pediatric age group, often associated with neurophakomatosis like tuberous sclerosis. Extracardiac tumors are rare and are classified based on histology into adult, fetal and genital forms. The adult form of extracardiac rhabdomyoma are seen in the head and neck region in vast majority of cases. These can occur within the pharyngeal or laryngeal compartments along with other neck spaces and the orbits. In this case report, we describe the findings of adult extracardiac rhabdomyoma and discuss the striking similarity with lymphomas on imaging.