The complexities in genotyping of congenital adrenal hyperplasia: 21-hydroxylase deficiency

The deficiency of 21-hydroxylase due to CYP21A2 pathogenic variants is a rather frequent disease with serious consequences, going from a real mortality risk to infertility and to milder symptoms, nevertheless important for affecting the patients’ self-esteem. In the most severe cases life-threatening adrenal salt wasting crises may occur. Significant morbidity including the possibility of mistaken gender determination, precocious puberty, infertility and growth arrest with consequent short stature may also affect these patients. In the less severe cases milder symptoms like hirsutism will likely affect the image of the self with strong psychological consequences. Its diagnosis is confirmed by 17OH-progesterone dosages exceeding the cut-off value of 10/15 ng/ml but genotyping is progressively assuming an essential role in the study of these patients particularly in confirming difficult cases, determining some aspects of the prognosis and allowing a correct genetic counseling. Genotyping is a difficult process due to the occurrence of both a gene and a highly homologous pseudo gene. However, new tools are opening new possibilities to this analysis and improving the chances of a correct diagnosis and better understanding of the underlying mechanisms of the disease. Beyond the 10 classic pathogenic variants usually searched for in most laboratories, a correct analysis of 21OH-deficiency cases implies completely sequencing of the entire gene and the determination of gene duplications. These are now recognized to occur frequently and can be responsible for some false positive cases. And finally, because gene conversions can include several pathogenic variants one cannot be certain of identifying that both alleles are affected without studying parental DNA samples. A complete genotype characterization should be considered essential in the preparation for pregnancy, even in the case of parents with milder forms of the disease, or even just carriers, since it has been reported that giving birth to progeny with the severe classic forms occurs with a much higher frequency than expected.The work was supported by the Foundation for Science and Technology (FCT) (PTDC/MEC-ONC/31384/2017). SG was funded through FCT grant SFRH/BPD/1117441/2015

Inequities in maternal postnatal visits among public and private patients: 2004 Pelotas cohort study

<p>Abstract</p> <p>Background</p> <p>The postnatal period is the ideal time to deliver interventions to improve the health of both the newborn and the mother. However, postnatal care shows low-level coverage in a large number of countries. The objectives of this study were to: 1) investigate inequities in maternal postnatal visits, 2) examine differences in postnatal care coverage between public and private providers and 3) explore the relationship between the absence of maternal postnatal visits and exclusive breastfeeding, use of contraceptive methods and maternal smoking three months after birth.</p> <p>Methods</p> <p>In the calendar year of 2004 a birth cohort study was started in the city of Pelotas, Brazil. Mothers were interviewed soon after delivery and at three months after birth. The absence of postnatal visits was defined as having no consultations between the time of hospital discharge and the third month post-partum. Logistic regression analysis was used to estimate the association between absence of postnatal visits and type of insurance scheme adjusting for potential confounding factors.</p> <p>Results</p> <p>Poorer women, black/mixed, those with lower level of education, single mothers, adolescents, multiparae, smokers, women who delivered vaginally and those who were not assisted by a physician were less likely to attend postnatal care. Postnatal visits were also less frequent among women who relied in the public sector than among private patients (72.4% vs 96% among public and private patients, respectively, <it>x</it>²p < 0.001) and this difference was not explained either by maternal characteristics or by health care utilization patterns. Women who attended postnatal visits were more likely to exclusively breastfeed their infants, to use contraceptive methods and to be non-smokers three months after birth.</p> <p>Conclusion</p> <p>Postpartum care is available for every woman free of charge in the Brazilian Publicly-funded health care system. However, low levels of postpartum care were seen in the study (77%). Efforts should be made to increase the percentage of women receiving postpartum care, particularly those in socially disadvantaged groups. This could include locally-adapted health education interventions that address women's beliefs and attitudes towards postpartum care. There is a need to monitor postpartum care and collected data should be used to guide policies for health care systems.</p

Physical activity and medicine use: evidence from a population-based study

BACKGROUND: Few studies have investigated the association between physical activity practice and medicine use; data from these studies are inconsistent. The aim of this study was to evaluate the association between level of physical activity and medicine use in adults aged 20 years or more. METHODS: A population-based cross-sectional study was carried out in the first semester of 2002 in the urban area of Pelotas; a medium-sized Southern Brazilian city. Physical activity was assessed with the short version of the International Physical Activity Questionnaire. A physical activity score was created as the weekly time spent in moderate-intensity activities plus twice the weekly time spent in vigorous-intensity activities. Medicine use in the 15 days prior to the interview was also assessed. Adjusted analyses taking into account the sampling design was carried out using Poisson regression. Wald tests for heterogeneity and linear trend were used to calculate significance. RESULTS: Out of the 3,182 individuals interviewed, 41% were not sufficiently active according to current physical activity guidelines. Only 34% of the subjects did not use medicines in the previous 15 days, and 18% used three or more drugs in the same period. Level of physical activity was inversely associated with the number of medicines used both in the crude and in the adjusted analyses. CONCLUSION: There are well-documented benefits of physical activity for several chronic diseases in the literature. Data from the present study suggest that medicine use is also positively affected by physical activity behavior

Tissue Doppler echocardiography – A case of right tool, wrong use

BACKGROUND: The developments in echocardiography or ultrasound cardiography (UCG) have improved our clinical capabilities. However, advanced hardware and software capabilities have resulted in UCG facilities of dubious clinical benefits. Is tissue Doppler echocardiography (TDE) is one such example? PRESENTATION OF THE HYPOTHESIS: TDE has been touted as advancement in the field of echocardiography. The striking play of colors, impressive waveforms and the seemingly accurate velocity values could be deceptive. TDE is a clear case of inappropriate use of technology. TESTING THE HYPOTHESIS: To understand this, a comparison between flow Doppler and tissue Doppler is made. To make clinically meaningful velocity measurements with Doppler, we need prior knowledge of the line of motion. This is possible in blood flow but impossible in the complex myocardial motion. The qualitative comparison makes it evident that Doppler is best suited for flow studies. IMPLICATIONS OF THE HYPOTHESIS: As of now TDE is going backwards using an indirect method when direct methods are better. The work on TDE at present is only debatable 'research and publication' material and do not translate into tangible clinical benefits. There are several advances like curved M-mode, strain rate imaging and tissue tracking in TDE. However these have been disappointing. This is due to the basic flaw in the application of the principles of Doppler. Doppler is best suited for flow studies and applying it to tissue motion is illogical. All data obtained by TDE is scientifically incorrect. This makes all the published papers on the subject flawed. Making diagnostic decisions based on this faulty application of technology would be unacceptable to the scientific cardiologist

Política Nacional de Saúde Bucal: fatores associados à integralidade do cuidado

OBJETIVO: Analisar fatores relacionados à integralidade na assistência à saúde bucal em centros de especialidades odontológicas segundo os princípios norteadores da Política Nacional de Saúde Bucal. MÉTODOS: Estudo exploratório transversal baseado em entrevista com 611 usuários de quatro centros de especialidades odontológicas da Bahia em 2008. A variável dependente foi descrita como "integralidade na saúde bucal", correspondente à realização de tratamento odontológico básico antes do tratamento especializado ou concomitante a este. As principais co-variáveis se referiram a cobertura da estratégia saúde da família no município, características sociodemográficas dos usuários, acessibilidade organizacional e geográfica ao serviço, além do tipo de especialidade demandada. RESULTADOS: Residentes de cidades em que o Programa Saúde da Família tinha cobertura >; 50% tiveram mais chance de concluir o tratamento odontológico (RP = 2,03, IC 95%: 1,33;3,09) em relação àqueles residentes em locais com cobertura menor. Quem buscou tratamento endodôntico teve mais chance de receber assistência integral à saúde bucal do que os usuários em busca de outras especialidades (RP = 2,31, IC 95%: 1,67;3,19). Os usuários com maior facilidade no acesso geográfico ao serviço especializado (RP = 1,22, IC 95%: 1,03;1,41), com ficha de referência (RP = 2,95, IC 95%: 1,82;4,78) e oriundos da atenção primária (RP = 3,13, IC 95%: 1,70;5,77) tiveram mais chance de alcançar a integralidade na assistência à saúde bucal em relação aos demais usuários. CONCLUSÕES: Usuários com facilidade de acesso geográfico, mais jovens e necessidade de serviço endodôntico tiveram mais chance de receber assistência integral. A implantação de centros de especialidades odontológicas em municípios nos quais a atenção primária à saúde não esteja adequadamente estruturada não é recomendada, visto que a atenção secundária estaria atendendo a livre demanda e executando procedimentos básicos e, portanto, não cumprindo o princípio da integralidade pretendida.OBJETIVO: Analizar factores relacionados a la integración en la asistencia a la salud bucal en centros de especialidades odontológicas según los principios que guían la Política Nacional de Salud Bucal. MÉTODOS: Estudio exploratorio transversal basado en entrevista con 611 usuarios de cuatro centros de especialidades odontológicas de Bahia, Noreste de Brasil, en 2008. La variable dependiente fue descrita como "integración en la salud bucal", correspondiente a la realización de tratamiento odontológico básico antes del tratamiento especializado o concomitante a este. Las principales covariables se refirieron a cobertura de la estrategia salud de la familia en el municipio, características sociodemográficas de los usuarios, accesibilidad organizacional y geográfica al servicio, además del tipo de especialidad demandada. RESULTADOS: Residentes de ciudades donde el Programa Salud de la Familia tenía cobertura >;50% tuvieron más chance de concluir el tratamiento odontológico (RP=2,03, IC 95%: 1,33;3,09) con relación a aquellas que estaban residenciados en localidades con cobertura menor. Quien buscó tratamiento endodóntico tuvo más chance de recibir asistencia integral a la salud bucal en comparación con los usuarios que buscan otras especialidades (RP=2,31, IC 95%: 1,67;3,19). Los usuarios con mayor facilidad en el acceso geográfico al servicio especializado (RP=1,22, IC 95%: 1,03;1,41), con ficha de referencia (RP=2,95, IC 95%: 1,82;4,78) y oriundos de la atención primaria (RP=3,13, IC 95%: 1,70;5,77) tuvieron más chance de alcanzar la integración en la asistencia a la salud bucal con relación a los demás usuarios. CONCLUSIONES: Usuarios con facilidad de acceso geográfico, más jóvenes y necesidad de servicios endodóntico tuvieron más chance de recibir asistencia integral. La implantación de centros de especialidades odontológicas en municipios donde la atención primaria a la salud no se encuentre adecuadamente estructurada no es recomendada, visto que la atención secundaria estaría atendiendo la libre demanda y ejecutando procedimientos básicos y, por lo tanto, no cumpliendo el principio de la integración pretendida.OBJECTIVE: To analyze the factors associated with comprehensiveness in oral health care in Centers of Dental Specialists, according to the guiding principles of the Brazilian Oral Health Policy. METHODS: An exploratory cross-sectional study, based on an interview with 611 users of four specialized dental care centers, was performed in the state of Bahia, Northeastern Brazil, in 2008. The dependent variable was described as "comprehensiveness in oral health care", corresponding to having a primary dental care performed before specialized treatment or concomitantly with it. The main covariables referred to the level of coverage of the family health strategy in the city, users' sociodemographic characteristics, and organizational and geographic accessibility to the service, in addition to the type of specialized care required. RESULTS: Residents of the cities where the Family Healthcare Program had a coverage >;50% were more likely to conclude their dental treatment (PR=2.03, 95% CI: 1.33;3.09), compared to those who lived in places with lower coverage. Individuals who sought endodontic treatment were more likely to receive comprehensive oral health care than users who were seeking other types of specialized care (PR=2.31, 95% CI: 1.67;3.19). Users with better geographic accessibility to specialized services (PR=1.22, 95% CI: 1.03;1.41), with a reference guide from primary care (PR=2.95, 95% CI: 1.82;4.78) and coming from primary health care services (PR=3.13, 95% CI: 1.70;5.77) were more likely to achieve comprehensiveness in oral health care than other users. CONCLUSIONS: Users with better geographic accessibility, lower age and need of endodontic services were more likely to receive comprehensive health care. Implementation of Centers of Dental Specialists in cities where primary healthcare is not adequately structured is not recommended, because secondary health care would meet the free demand and perform basic procedures, thus not fulfilling the expected principle of comprehensiveness

The effect of rural-to-urban migration on social capital and common mental disorders: PERU MIGRANT study

OBJECTIVE: This study aims to investigate whether there are differences in the prevalence of common mental disorders and social capital between migrant and non-migrant groups in Peru. METHODOLOGY: The PERU MIGRANT study is a cross-sectional study comprising three groups: an urban group from a shanty town in Lima; a rural group from a community in Ayacucho-Peru; and a migrant group originally from Ayacucho currently living in the same urban shanty town. Common mental disorders were assessed using the General Health Questionnaire (GHQ-12), and social capital was assessed using the Short Social Capital Assessment Tool (SASCAT). Poisson regression with robust standard errors was used to estimate prevalence ratios. RESULTS: The overall prevalence of common mental disorders was 39.4%; the highest prevalence was observed in the rural group. Similar patterns were observed for cognitive social capital and structural social capital. However after adjustment for sex, age, family income and education, all but one of the significant relationships was attenuated, suggesting that in this population migration per se does not impact on common mental health disorders or social capital. CONCLUSIONS: In the PERU MIGRANT study, we did not observe a difference in the prevalence of common mental disorders, cognitive and structural social capital between migrant and urban groups. This pattern of associations was also similar in rural and urban groups, except that a higher prevalence ratio of structural social capital was observed in the rural group