Cryptic mosaicism involving a second chromosome X in patients with Turner syndrome

The high abortion rate of 45,X embryos indicates that patients with Turner syndrome and 45,X karyotype could be mosaics, in at least one phase of embryo development or cellular lineage, due to the need for the other sex chromosome presence for conceptus to be compatible with life. In cases of structural chromosomal aberrations or hidden mosaicism, conventional cytogenetic techniques can be ineffective and molecular investigation is indicated. Two hundred and fifty patients with Turner syndrome stigmata were studied and 36 who had female genitalia and had been cytogenetically diagnosed as having "pure" 45,X karyotype were selected after 100 metaphases were analyzed in order to exclude mosaicism and the presence of genomic Y-specific sequences (SRY, TSPY, and DAZ) was excluded by PCR. Genomic DNA was extracted from peripheral blood and screened by the human androgen receptor (HUMARA) assay. The HUMARA gene has a polymorphic CAG repeat and, in the presence of a second chromosome with a different HUMARA allele, a second band will be amplified by PCR. Additionally, the CAG repeats contain two methylation-sensitive HpaII enzyme restriction sites, which can be used to verify skewed inactivation. Twenty-five percent (9/36) of the cases showed a cryptic mosaicism involving a second X and approximately 14% (5/36), or 55% (5/9) of the patients with cryptic mosaicism, also presented skewed inactivation. The laboratory identification of the second X chromosome and its inactivation pattern are important for the clinical management (hormone replacement therapy, and inclusion in an oocyte donation program) and prognostic counseling of patients with Turner syndrome.

Genetic divergence in cocoa progenies for backcrossing program to witches' broom disease resistance

Backcrossing has been little used in cacao breeding, particularly due to the long time required to transfer genes and recover the genetic background of the recurrent parent. The objective of this study was to select individuals, resulting from the backcross CEPEC-42 x SIC-19, genetically related to the recurrent parent SIC-19 by using RAPD molecular markers, among those with resistance to witches' broom. Of the 31 plants that clustered with SIC-19, 18 from the replanted material remained free of the disease in the field, with good vegetative aspect and, therefore can be used for backcross to reach the desired objective.

Sustainable Tourism and Eradication of Poverty (Step): impact assessment of a tourism development program in Brazil

This paper aims to evaluate the social impacts of the Tourism Development Program (Prodetur) in the northeastern town of Porto Seguro, Bahia, Brazil. The method used is based on the difference in difference technique applied to the 1991 and 2000 Census microdata. The results suggest social advances following from poverty relief based on income - where the benefits are distributed, generally, in a relatively equal manner between the native and migrant population. There is a relative deterioration in the sanitary situation, which consists of a very serious problem in the mid- and long-term, whose costs are mostly borne by the native population. Therefore, maintaining the natural capital is the main aspect that distances Porto Seguro’s tourism supply from the concept of sustainability. The article also relies on difference in difference estimators to assess the impacts of local public policies related to the sector.

Evaluation of a program to reduce back pain in nursing personnel

OBJECTIVE: To evaluate the effectiveness of a program designed to reduce back pain in nursing aides. METHODS: Female nursing aides from a university hospital who had suffered episodes of back pain for at least six months were included in the study. Participants were randomly divided into a control group and an intervention group. The intervention program involved a set of exercises and an educational component stressing the ergonomic aspect, administered twice a week during working hours for four months. All subjects answered a structured questionnaire and the intensity of pain was assessed before and after the program using a visual analogue scale (VAS). Student's t-test or the Wilcoxon Rank Sum Test for independent samples, and Chi-square test or the Exact Fisher test for categorical analysis, were used. The McNemar test and the Wilcoxon matched pairs test were used to compare the periods before and after the program. RESULTS: There was a statistically significant decrease in the frequency of cervical pain in the last two months and in the last seven days in the intervention group. There was also a reduction in cervical pain intensity in the two periods (2 months, 7 days) and lumbar pain intensity in the last 7 days. CONCLUSIONS: The results suggest that a program of regular exercise with an emphasis on ergonomics can reduce musculoskeletal symptoms in nursing personnel.

Assessment of a consultation-liaison psychiatry and psychology health care program

OBJECTIVE: To investigate the relevance of subjective criteria adopted by a psychiatry and psychology consultation-liaison service, and their suitability in the evaluation of case registries and objective results. METHODS: Semi-structured interviews were conducted and all supervisors of the university hospital service were interviewed. Routinely collected case registries were also reviewed. Standardized assessment with content analysis for each category was carried out. RESULTS: The results showed distortions in the adopted service focus (doctor-patient relationship) and consultant requests. This focus is more on consulting physician-oriented interventions than on patients. DISCUSSION: Evaluation of the relevance of service criteria could help promoting quality assessment of the services provided, mainly when objective criteria have not yet been established to assure their suitability.

Tuberculosis Control Program and patient satisfaction, Rio de Janeiro, Brazil

OBJECTIVE To evaluate factors associated with users’ satisfaction in the Tuberculosis Control Program. METHODS A cross-sectional study of 295 patients aged ≥ 18 years, with two or more outpatient visits in the Tuberculosis Control Program, in five cities in the metropolitan region of Rio de Janeiro, RJ, Southeastern Brazil, in 2010. Considering an estimated population of 4,345 patients, the sampling plan included 15 health care units participating in the program, divided into two strata: units in Rio de Janeiro City, selected with probability proportional to the monthly average number of outpatient visits, and units in the other four cities. In the units, four temporal clusters of five patients each were selected with equal probability, totaling 300 patients. A questionnaire investigating the users’ clinical and sociodemographic variables and aspects of care and service in the program relevant to user satisfaction was applied to the patients. Descriptive statistics about users and their satisfaction with the program were obtained, and the effects of factors associated with satisfaction were estimated. RESULTS Patients were predominantly males (57.7%), with a mean age of 40.9 and with low level of schooling. The mean treatment time was 4.1 months, mostly self-administered (70.4%). Additionally, 25.8% had previously been treated for tuberculosis. There was a high level of satisfaction, especially regarding medication provision, and respect to patients by the health professionals. Patients who were younger (≤ 30), those on self-administered treatment, and with graduate level, showed less satisfaction. Suggestions to improve the services include having more doctors (70.0%), and offering exams in the same place of attendance (55.1%). CONCLUSIONS Patient satisfaction with the Tuberculosis Control Program was generally high, although lower among younger patients, those with university education and those on self-administered treatment. The study indicates the need for changes to structural and organizational aspects of care, and provides practical support for its improvement.

Association between food assistance program participation and overweight

OBJECTIVE The objective of this study was to investigate the association between food assistance program participation and overweight/obesity according to poverty level. METHODS A cross-sectional analysis of data from 46,217 non-pregnant and non-lactating women in Lima, Peru was conducted; these data were obtained from nationally representative surveys from the years 2003, 2004, 2006, and 2008-2010. The dependent variable was overweight/obesity, and the independent variable was food assistance program participation. Poisson regression was used to stratify the data by family socioeconomic level, area of residence (Lima versus the rest of the country; urban versus rural), and survey year (2003-2006 versus 2008-2010). The models were adjusted for age, education level, urbanization, and survey year. RESULTS Food assistance program participation was associated with an increased risk of overweight/obesity in women living in homes without poverty indicators [prevalence ratio (PR) = 1.29; 95% confidence interval (CI) 1.06;1.57]. When stratified by area of residence, similar associations were observed for women living in Lima and urban areas; no associations were found between food assistance program participation and overweight/obesity among women living outside of Lima or in rural areas, regardless of the poverty status. CONCLUSIONS Food assistance program participation was associated with overweight/obesity in non-poor women. Additional studies are required in countries facing both aspects of malnutrition.

Intra-hospital organ and tissue donation coordination project: cost-effectiveness and social benefits

OBJECTIVE To evaluate the viability of a professional specialist in intra-hospital committees of organ and tissue donation for transplantation. METHODS Epidemiological, retrospective and cross-sectional study (2003-2011 and 2008-2012), which was performed using organ donation for transplants data in the state of Sao Paulo, Southeastern Brazil. Nine hospitals were evaluated (hospitals 1 to 9). Logistic regression was used to evaluate the differences in the number of brain death referrals and actual donors (dependent variables) after the professional specialist started work (independent variable) at the intra-hospital committee of organ and tissue donation for transplantation. To evaluate the hospital invoicing, the hourly wage of the doctor and registered nurse, according to the legislation of the Consolidation of Labor Laws, were calculated, as were the investment return and the time elapsed to do so. RESULTS Following the nursing specialist commencement on the committee, brain death referrals and the number of actual donors increased at hospital 2 (4.17 and 1.52, respectively). At hospital 7, the number of actual donors also increased from 0.005 to 1.54. In addition, after the nurse started working, hospital revenues increased by 190.0% (ranging 40.0% to 1.955%). The monthly cost for the nurse working 20 hours was US$397.97 while the doctor would cost US$3,526.67. The return on investment was 275% over the short term (0.36 years). CONCLUSIONS This paper showed that including a professional specialist in intra-hospital committees for organ and tissue donation for transplantation proved to be cost-effective. Further economic research in the area could contribute to the efficient public policy implementation of this organ and tissue harvesting model.

Implementation contexts of a Tuberculosis Control Program in Brazilian prisons

OBJECTIVE To analyze the influence from context characteristics in the control of tuberculosis in prisons, and the influence from the program implementation degrees in observed effects.METHODS A multiple case study, with a qualitative approach, conducted in the prison systems of two Brazilian states in 2011 and 2012. Two prisons were analyzed in each state, and a prison hospital was analyzed in one of them. The data were submitted to a content analysis, which was based on external, political-organizational, implementation, and effect dimensions. Contextual factors and the ones in the program organization were correlated. The independent variable was the program implementation degree and the dependent one, the effects from the Tuberculosis Control Program in prisons.RESULTS The context with the highest sociodemographic vulnerability, the highest incidence rate of tuberculosis, and the smallest amount of available resources were associated with the low implementation degree of the program. The results from tuberculosis treatment in the prison system were better where the program had already been partially implemented than in the case with low implementation degree in both cases.CONCLUSIONS The implementation degree and its contexts – external and political-organizational dimensions – simultaneously contribute to the effects that are observed in the control of tuberculosis in analyzed prisons.

Advances and challenges in oral health after a decade of the “Smiling Brazil” Program

ABSTRACT OBJECTIVE To analyze oral health work changes in primary health care after Brazil’s National Oral Health Policy Guidelines were released. METHODS A literature review was conducted on Medline, LILACS, Embase, SciELO, Biblioteca Virtual em Saúde, and The Cochrane Library databases, from 2000 to 2013, on elements to analyze work changes. The descriptors used included: primary health care, family health care, work, health care policy, oral health care services, dentistry, oral health, and Brazil. Thirty-two studies were selected and analyzed, with a predominance of qualitative studies from the Northeast region with workers, especially dentists, focusing on completeness and quality of care. RESULTS Observed advances focused on educational and permanent education actions; on welcoming, bonding, and accountability. The main challenges were related to completeness; extension and improvement of care; integrated teamwork; working conditions; planning, monitoring, and evaluation of actions; stimulating people’s participation and social control; and intersectorial actions. CONCLUSIONS Despite the new regulatory environment, there are very few changes in oral health work. Professionals tend to reproduce the dominant biomedical model. Continuing efforts will be required in work management, training, and permanent education fields. Among the possibilities are the increased engagement of managers and professionals in a process to understand work dynamics and training in the perspective of building significant changes for local realities.

National Immunization Program: Computerized System as a tool for new challenges

The scope and coverage of the Brazilian Immunization Program can be compared with those in developed countries because it provides a large number of vaccines and has a considerable coverage. The increasing complexity of the program brings challenges regarding its development, high coverage levels, access equality, and safety. The Immunization Information System, with nominal data, is an innovative tool that can more accurately monitor these indicators and allows the evaluation of the impact of new vaccination strategies. The main difficulties for such a system are in its implementation process, training of professionals, mastering its use, its constant maintenance needs and ensuring the information contained remain confidential. Therefore, encouraging the development of this tool should be part of public health policies and should also be involved in the three spheres of government as well as the public and private vaccination services.

Use of the Brazilian People’s Pharmacy Program by older adults

ABSTRACT OBJECTIVE To assess the prevalence and factors associated with the use of the expanded Brazilian People’s Pharmacy Program among older adults and the reasons for not using it. METHODS In this population-based cross-sectional study conducted in the urban area of Pelotas, RS, Southern Brazil, we evaluated 1,305 older adults (aged 60 years or over) who had used medication in the last 15 days. Independent variables were socioeconomic factors, economic status, household income in minimum wages, educational attainment in years of schooling and occupational status. Demographic variables were sex, age, marital status, and self-reported skin color/race. Poisson regression was employed to analyze the factors associated with the use of the program. RESULTS The prevalence of use was 57.0% whilst the prevalence of knowledge of the program was 87.0%. In individuals aged 80 years or over, use of the program was 41.0%. As to the origin of the prescriptions used by older adults, 46.0% were from the Brazilian Unified Health System. The main reasons for not using the program were: difficulty in getting prescriptions, medication shortage, and ignorance about the medications offered and about the program. Higher age, lower income, presence of chronic diseases, and use of four or more medications were associated with use of the program. CONCLUSIONS It is necessary to expand the knowledge and use of the Brazilian People’s Pharmacy Program, especially among older adults, and to improve the dissemination of its list of medications to users and physicians. Thus it will be possible to reduce spending on long-term medications, which are especially important for this population.

Survey on the clinical trial results achieved in Brazil comparing praziquantel and oxamniquine in the treatment of mansoni schistosomiasis

A random, double-blind, parallel group clinical trial program was carried out to compare praziquantel, a recently developed anti-helmintic drug, and oxamniquine, an already established agent for treating mansoni schistosomiasis. Both drugs were administered orally as a single dose, on the average, praziquantel 55 mg/kg and oxamniquine 16 mg/kg BWT. The diagnosis and the parasitological follow-up lasting for a minimum of six months, were based on stool examinations according to Kato/Katz technique. A patient was considered cured if all results were negative and if he had performed at least three post-treatment controls, each one comprising three stool examinations. The finding of a single S. mansoni egg in any stool examination indicated, a therapeutical failure. A total of 267, cases were treated with praziquantel and 272 with oxamniquine. The two groups were homogeneous in regard to patients, age, clinical form of the disease, risk of reinfection and worm burden, relevant factors in the therapeutical response. The incidence and severity of untoward, effects were similar in both groups but abdominal distress and diarrhoea were more frequently reported under praziquantel and dizzines under oxamniquine (p < 0.05). In the former group a marked urticariform reaction was observed whereas in the latter one patient presented convulsion. The laboratory work-up. failed to disclose any significant alteration although the AST, ALT and y-GT mean values revealed a tendence to increase on the 7th day after oxamniquine intake. The overall parasitological cure rates were 75.5% (139/ 184) with praziquantel and 69.8% (134/192) with oxamniquine (p > 0.05). Amongst the noncured aptients a reduction of 88.6% and 74.6% in the mean number of eggs/g of feces Was seen following the treatment with praziquantel and oxamniquine, respectively (p < 0.05). In conclusion, in spite of their different chemical, pharmacological and toxicological profiles as well as mechanisms-of-action, inclusively praziquantel already had proved to be 100% active against S. mansoni strains resistant to oxamniquine, both drugs showed comparable tolerance and therapeutical efficacy.

Splenomegaly in relation to Schistosoma mansoni egg counts: a population based study

A cross: sectional survey on schistosomiasis was done in Comercinho (Minas Gerais State, Brazil), a town with 1474 inhabitants. Stool (Kato-Katz method) and physical examinations were done on 90% of the population and on 84% of the individuals over 2 years of age, respectively. The ecological and individual (case-control) analysis were used to investigate the relation between splenomegaly and S. mansoni egg counts in different age groups. In the ecological analysis there was a clearly correspondence between higher geometric mean of eggs and higher percentage of splenomegaly in the age groups 5-9 and 10-12 years. In the individual analysis it was found that only in the youngest individuals (5-8 or 5-9 years old) the splenomegaly was related with higher mean egg counts in the feces, having been a tendency to the decrease of excretion of eggs in patients with splenomegaly as the age increased. These results strongly suggest that the ecological data are' better indicator of the severity of schistosomiasis in endemic areas, as the decrease of the egg excretion in patients with splenomegaly may be a confounding variable for the individual analysis.

Dot-ELISA for the detection of IgM and IgG antibodies to Schistosoma mansoni worm and egg antigens, associated with egg excretion by patients

Human schistosomiasis, caused by Schistosoma mansoni, is highly prevalent in Brazil and usually diagnosed by time consuming stool analysis. Serological tests are of limited use in this disease, mainly for epidemiological studies, showing no discrimination between previous contact with the parasite and active infections. In the present study, we standardized and compared a Dot-ELISA for IgM and IgG antibodies against S. mansoni antigens from eggs and worms with a routine IgG and IgM immunofluorescence assay using similar antigens, in the study of sera from 27 patients who had quantified egg stool excretion. The positivity obtained for IgG Dot-ELISA was 96.3% and 88.9% for IgM Dot-ELISA with worm antigen and 92.6% and 90.9% with egg antigen. The IFI presented similar positivities using worm antigen, 92.6% (IgG) and 96.3% (IgM),and lower results with egg antigen, 77.8% (IgG and IgM). The patients studied were divided into two groups according to their egg excretion, with greater positivity of serological tests in higher egg excreters. When comparing the quantitative egg excretion and the serological titers of the patients, we detected a correlation only with IgM Dot-ELISA, with r=0.552 (p=0.0127). These data show that Dot-ELISA can be used for the detection of specific antibodies against S. mansoni in sera from suspected patients or in epidemiological studies and, with further purification of egg antigen and larger samples, IgM Dot-ELISA could be a possible tool for rough estimates of parasite burden in epidemiological studies.