Nasal dermal sinus cysts with intracranial extension in a child mosaic for a supernumerary ring chromosome 20

Nasal dermal sinus cysts are congenital malformations that result from anomalous embryological development and are not prescribed to any specific genetic defect. The occurrence of a supernumerary ring 20 that causes a partial trisomy 20 mosaicism is a rare chromosome abnormality and no common phenotype has been described yet. We present a unique case of a 3.5-year-old child with a supernumerary ring chromosome 20 mosaicism associated with nasal dermoid with intracranial extension. It is possible that this genetic defect contribute to embryonic developmental errors of the frontonasal region. The clinical presentation, surgical treatment, and literature review of this case are discussed.     

A Bayesian network approach for modeling local failure in lung cancer

Locally advanced non-small cell lung cancer (NSCLC) patients suffer from a high local failure rate following radiotherapy. Despite many efforts to develop new dose-volume models for early detection of tumor local failure, there was no reported significant improvement in their application prospectively. Based on recent studies of biomarker proteins' role in hypoxia and inflammation in predicting tumor response to radiotherapy, we hypothesize that combining physical and biological factors with a suitable framework could improve the overall prediction. To test this hypothesis, we propose a graphical Bayesian network framework for predicting local failure in lung cancer. The proposed approach was tested using two different datasets of locally advanced NSCLC patients treated with radiotherapy. The first dataset was collected retrospectively, which comprises clinical and dosimetric variables only. The second dataset was collected prospectively in which in addition to clinical and dosimetric information, blood was drawn from the patients at various time points to extract candidate biomarkers as well. Our preliminary results show that the proposed method can be used as an efficient method to develop predictive models of local failure in these patients and to interpret relationships among the different variables in the models. We also demonstrate the potential use of heterogeneous physical and biological variables to improve the model prediction. With the first dataset, we achieved better performance compared with competing Bayesian-based classifiers. With the second dataset, the combined model had a slightly higher performance compared to individual physical and biological models, with the biological variables making the largest contribution. Our preliminary results highlight the potential of the proposed integrated approach for predicting post-radiotherapy local failure in NSCLC patients.     

Is there a gender difference on the association between informal work and common mental disorders?

Economic activity in Brazilian women has been increasing in recent years, particularly in the form of under- and self-employment, which allows more flexibility in the work schedule and facilitates part-time work, a crucial issue for women reconciling family duties and the need for a remunerated occupation. This paper investigates the gender difference in the association between employment status and common mental disorders (CMD). A cross-sectional survey of a random sample of private households included 683 adults aged 15 years and over living in Olinda, Brazil. The self-reporting questionnaire (SRQ-20) was used to estimate the prevalence of CMD. The association between unemployment and CMD for men (OR=1.77, 95% CI 0.8–3.9) was in the same direction as that found for women (OR=2.66, 95% CI 1.1–6.3), but not significant. In contrast to this, while women working in the informal sector were more likely to be a case of CMD than formal workers (OR=3.02, 95% CI 1.3–7.2), no difference was found for informally working men (OR=1.08, 95% CI 0.5–2.4). The estimated OR for female informal workers was out of the 95% confidence intervals of the corresponding OR estimated for males, and the test for interaction was statistically significant (p=0.04). From a policy perspective, the value of encouraging people to take informal work depends both on how quickly individuals can be moved out of unemployment into informal work compared to other destinations, and how well individuals fare once in informal work. The results of the present study suggest that working outside the protection of employment legislation and with limited opportunity for skill use may be a risk for women’s mental health.     

Investigating the effect of demographic and socioeconomic variables on misclassification by the SRQ-20 compared with a psychiatric interview

BACKGROUND: Previous research among primary care attenders in Latin America has noted that females and those with less education may over-report psychiatric complaints on the SRQ-20, compared with responses to a standardized psychiatric interview administered by a clinician. In this paper, the association between demographic and socioeconomic variables and misclassification by the SRQ-20 were investigated and the size of misclassification estimated in a population-based survey. METHOD: A cross-sectional survey of a random sample of private households included 683 adults aged 15 years and over living in Olinda, Recife Metropolitan Region, Pernambuco, Brazil. The SRQ-20 results were compared with an interview administered by a psychiatrist. The effect of demographic and socioeconomic variables on misclassification by the SRQ-20 was assessed by calculating the odds ratio (OR) for being a case on the SRQ-20 after adjustment for being a case on the psychiatric interview. Logistic regression was used to investigate the size of misclassification, adjusting the association between common mental disorders, defined by the SRQ-20,and different variables for the psychiatric interview results. RESULTS: In the univariate analysis, females, the elderly, the less educated, manual workers, housewives and migrants did tend to over-report complaints in the absence of symptoms. However, the apparent influence of age, education, occupation and migration on misclassification by the SRQ-20 was markedly reduced and became statistically non-significant after adjustment for sex and for the other variables in the table. In contrast, the gender effect was not altered after adjustment. CONCLUSIONS: Our results suggest that misclassification on the SRQ-20 was mostly related to being female, though this did not entirely explain the increased prevalence of CMD in women in the sample. Further research is needed to understand why different ways of measuring CMD can lead to different results.     

Results of p53 analysis in pediatric malignancies in Poland

BACKGROUND: Mutations of the p53 gene are thought to be causally associated with the development of various neoplasms. In tumors overexpressing the wild-form of p53, its functional inactivation has been suggested, and MDM2 seems to be important in this process. We analyzed p53 in childhood solid tumors, as data on pediatric malignancies are still limited. PROCEDURE: The p53 gene was screened for mutations by the PCR-S SCP method and sequencing. p53, p21, and MDM2 proteins were analyzed by Western blotting. RESULTS: Overall, p53 mutations were found at a low frequency, 7% (9/126); the frequency calculated for sarcomas was also low, 8.6%. Interestingly, three of the nine detected mutations were new ones. p53 protein was demonstrated in all tumor histotypes, overall, in 63% (43/68) of the tumors, with 18% showing marked overexpression. No p21 was found; and the 76 kDa MDM2 protein was demonstrated in 18% (6/33) of the sarcomas. CONCLUSIONS: In the series of pediatric malignancies studied, the frequency of p53 mutations was very low, whereas p53 protein was present in a high fraction of the tumors. Thus, in total, p53 abnormalities were frequent.     

Informal work and common mental disorders

BACKGROUND: In many developing countries, a large proportion of people work without the social and legislative protection accorded to those in the "formal" labour market. Formal and informal work are very distinct labour market destinations for those leaving unemployment. From a policy perspective, the value of encouraging unemployed people to take informal work depends both on how quickly individuals can be moved out of unemployment into informal work compared to other destinations, and how well individuals fare once in informal work. This paper investigates the association between informal work and common mental disorders in Northeast Brazil. METHOD: A cross-sectional survey of a random sample of private households included 683 adults aged 15 years and over living in area II of Olinda, Recife Metropolitan Region, Pernambuco, Brazil. Informal workers comprised self-employed and underemployed. The self-reporting questionnaire (SRQ) was used to estimate the prevalence of common mental disorders. RESULTS: Informal workers had a higher prevalence of common mental disorders compared to those in formal employment. This was true before and after adjustment for sex, age, marital status and migration (OR 2.16, 95% CI 1.3-3.7) and for education and household per capita monthly income (OR 1.83, 95% CI 1.1-3.1). CONCLUSIONS: Understanding causes of common mental disorders in different societies requires an understanding of the differing socioeconomic circumstances around the world. Working outside the protection of employment legislation is very common in many poorer countries and may have adverse consequences for psychological health.