The relationship between level of education and moral judgment toward who abuse drugs.

The aim of the present study is to verify the differences of the moral judgment toward the people who abuse drugs according to the schooling of the participants. This is the Brazilian part of a multicentric study. N=180 individuals in a community in Brasília, DF, Brazil; following consent, descriptive data were collected by anonymous interviewer-administered questionnaire that included socio-demographic, educational level and the history of drug use. Participants were predominantly females, middle-aged, married, employed, religious, with high school education; higher schooling considered alcohol abusers, marijuana, cocaine and crack are important as anyone else; the majority with lower education level knew someone who used drugs, but no association was found regarding drug use and schooling; in the unadjusted logistic regression model, positive associations were found between higher schooling and 'who use drugs are as important as anyone else' for all drugs studied; after adjusted, the association remained only for marijuana (all p<0.05). The negative attitude surrounding drugs issue can be an important obstacle. The results suggest that education can help to reduce the stigma associated; public policies would be important to minimizing social harm caused by stigmatized visions of drug users.

Cytogenetic abnormalities in couples with a history of primary and secondary recurrent miscarriage: a Brazilian Multicentric Study.

Objective: To evaluate the difference between chromosomal abnormalities between the gender of couples affected by Recurrent miscarriage (RM) and if there is an association between previous obstetric history and chromosomal abnormalities of the parents.Methods: Multicenter, retrospective, observational study from seven different RM clinics between 2006 and 2016. We enrolled 707 couples (1014 participants) with a history of RM. We compared the frequency of chromosomal abnormalities between groups of couples with primary and secondary RM and separated between women and their partners. Furthermore, we compared the prevalence of chromosomal abnormalities between groups based on the number of previous spontaneous abortions.Results: The overall prevalence of all cytogenetic abnormalities was 5.59% (n = 1414, women and their partners). Excluding cases of polymorphism and inversion of chromosome 9, which are considered variants of normality, the prevalence in all individuals was 2.26% (n = 32/1414). The comparative analysis of cases of chromosomal abnormalities among couples with primary and secondary RM based on the number of previous miscarriages (PM) revealed a similar frequency between groups. The statistical analysis of the total cases (primary PM + secondary PM) in these three groups were as follows: (a) couple, 2 pm versus 3 pm vs. ≥4 PM, p = .514; (b) women, 2 pm versus 3 pm vs. ≥4 PM, p = .347; and (3) partner, 2 pm versus 3 pm vs. ≥4 PM, p = .959. Chromosomal abnormalities were significantly more prevalent among women than among their partners (6.9 versus 4.2%; p = .027). Moreover, the distribution of leading chromosomal abnormalities among women was different compared with their partners. Among women, we observed these abnormalities in the following frequency order: mosaicism (38.8%), polymorphism (32.6%), translocation (16.3%), and inversion (12.3%). Among their partners, these abnormalities were polymorphism (73.3%), inversion (13.3%), mosaicism (6.7%), and translocation (6.7%).Conclusion: The number of PM and the history of full-term pregnancy does not correlate with an increase or decrease in the prevalence of cytogenetic abnormalities in couples with RM.

Fragilidade, perfil sóciodemográfico e avaliação de saúde de idosos em vulnerabilidade / Frailty, sociodemografic profile and health evaluation of older adults in vulnerability / Fragilidad, perfil sociodemográfico y evaluación de adultos mayores en vulnerabilidad

OBJETIVO: Comparar a prevalência da fragilidade com o perfil sociodemográfico e a avaliação subjetiva de saúde de idosos cadastrados em Centros de Referência de Assistência Social em um município do interior paulista. MÉTODOS: Estudo comparativo e transversal, baseado no método quantitativo de investigação. Foram avaliados 247 idosos utilizando-se: questionário para caracterização do idoso, Avaliação Subjetiva de Saúde e Escala de Fragilidade de Edmonton. As entrevistas foram realizadas no domicílio. Todos os cuidados éticos foram observados. A pesquisa foi aprovada sob CAAE 00867312.8.0000.5504. RESULTADOS: Dos idosos avaliados, 41,7% não apresentaram fragilidade e 36,8% possuíam algum nível (seja fragilidade leve, moderada ou severa). Houve diferença estatisticamente significativa entre fragilidade e: número de doenças relatadas e avaliação subjetiva de saúde (p<0,01). CONCLUSÃO: Idosos frágeis, com comorbidades e auto percepção negativa da saúde merecem especial atenção dos serviços de saúde e de assistência social

Objective: The study's main purpose has been to compare the prevalence of frailty with both demographic profile and subjective evaluation of health of older adults registered in Social Assistance Referral Centers of a countryside municipality from the São Paulo State. Methods: It is a comparative and cross-sectional study with a quantitative approach. There were assessed 247 older adults using the following: a questionnaire for the characterization of older adults, Subjective Evaluation of Health and the Edmonton Frail Scale. The interviews were carried out at home. All ethical precepts were respected. This research was approved under the Certificado de Apresentação para Apreciação Ética (CAAE) [Certificate of Presentation for Ethical Appraisal] No. 00867312.8.0000.5504. Results: Considering the assessed older people, 41.7% did not show frailty, whereas 36.8% did show some level (mild, moderate or severe) of it. There was found a statistically significant difference between frailty and the following: number of reported diseases and subjective evaluation of health (p < 0.01). Conclusion: Frail older adults bearing comorbidities and negative self-perception of their health deserve special attention from social assistance and health care services

Objetivo: El estudio tuvo como objetivo comparar la prevalencia de la fragilidad con el perfil sociodemográfico y la evaluación subjetiva de la salud de las personas mayores inscrita en los Centros de Referencia de Asistencia Social en un municipio del Estado de Sao Paulo. Métodos: Estudio comparativo y transversal, basado en el método cuantitativo de investigación. Se evaluarón 247 adultos mayores utilizando: cuestionario para caracterización del adulto mayor, Evaluación Subjetiva de Salud y Escala de Fragilidad de Edmonton. Las encuentas se realizarón en el domicilio. Se tuvieron todos los cuidados éticos. La investigación fue aprobada bajo CAAE 00867312.8.0000.5504. Resultados: Considerando la evaluación de los adultos mayores,41,7% de los adultos mayores evaluados no presentarón fragilidad y 36,8% tenían algún nivel (sea fragilidad leve, moderada o severa). Se observó una diferencia estadísticamente significativa entre la fragilidad y el número de enfermedades notificadas y la evaluación subjetiva de la salud. Conclusión: Adultos mayores frágiles, con comorbilidad y auto percepción negativa de la salud merecen especial atención de los servicios de salud y de asistencia social

Gestational and perinatal outcomes in recurrent miscarriages couples treated with lymphocyte immunotherapy.

OBJECTIVE: This study aims to elucidate which types of recurrent miscarriage (RM) patients experienced a livebirth after paternal lymphocyte immunotherapy (LIT) and to evaluate the perinatal outcome. STUDY DESIGN: Retrospective analysis of a multicenter, observational study which enrolled 1096 couples with a history of two or more spontaneous miscarriages without any intercalated delivery. We conducted an intention-to-treat analysis of couples with RM treated with or without LIT regarding to gestational and perinatal outcomes. We compared groups by using the Student's t-test or Kruskal-Wallis test, Fisher's exact-test and χ 2 test when appropriate. RESULTS: The success of gestation was significantly higher in the LIT group (60.1% vs. 33.1%; p < 0.001). A sub-analysis of four different immune disorder groups revealed a significantly higher success in the LIT group in all immune categories, except in patients who had autoantibodies positive. We observed no significant differences in perinatal outcomes such as gestational age at birth, preterm and extreme preterm birth, and birth weight in successful pregnancy in both groups. The success rate was significantly higher when LIT was administrated before and during pregnancy and only during pregnancy compared to only before pregnancy (p < 0.01). CONCLUSIONS: Careful laboratory test phenotyping of RM patients may identify subgroups most likely to benefit and exclude those with little likelihood of benefit, and LIT during a pregnancy may significantly improve success rates.

Frailty, profile and cognition of elderly residents in a highly socially vulnerability area. / Fragilidade, perfil e cognição de idosos residentes em área de alta vulnerabilidade social.

This study aimed to associate frailty with sociodemographic profile and cognition of elderly people living in highly socially vulnerable contexts registered at a Social Assistance Referral Centers in a city of inland São Paulo. This is a cross-sectional and quantitative study with 48 elderly. Data was collected with a sociodemographic interview, the Edmonton Frail Scale and the Montreal Cognitive Assessment, and was analyzed with the Jonckheere-Terpstra test, Spearman's correlation and logistic regression (α = 5.0%). This study was approved under Opinion Nº 72182. Of the 48 elderly interviewed, 33.4% were non-frail, 20.8% were apparently vulnerable and 45.8% were frail at some level (mild, moderate or severe). Women (OR = 4.64) and nonwhites (OR = 3.99) were more likely of being frail. The realms with the greatest influence in the determination of frailty were cognition, independence and functional performance, general health and mood, although gender (p = 0.0373) and ethnicity (p = 0.0284) had a significant association. Worth highlighting is that considering the frailty profile of the elderly warrants the development of specific care strategies for this segment of the population in a vulnerable area, preventing futures complications.

O objetivo do estudo foi associar a fragilidade com perfil sociodemográfico e cognição de idosos residentes em contexto de alta vulnerabilidade social cadastrados em um Centro de Referência de Assistência Social em um município do interior paulista. Estudo transversal e quantitativo realizado com 48 idosos. Para a coleta de dados utilizou-se entrevista sociodemográfica, Escala de Fragilidade de Edmonton e Montreal Cognitive Assessment. Para a análise dos dados foi empregado teste de Jonckheere-Terpstra, correlação de Spearman e regressão logística (α = 5,0%). Dos 48 entrevistados, 33,4% não eram frágeis, 20,8% se mostraram aparentemente vulneráveis e 45,8% estavam frágeis em algum nível. As mulheres (OR = 4,64) e os de raça não branca (OR = 3,99) tiveram maior chance de apresentar fragilidade. Os domínios com maior influência na determinação da fragilidade foram: cognição, independência e desempenho funcional, estado geral da saúde e humor, embora sexo (p = 0,0373) e raça (p = 0,0284) tenham apresentado associação significativa. Destaca-se que considerar o perfil de fragilidade dos idosos subsidia o desenvolvimento de estratégias específicas de cuidado para este segmento populacional em área vulnerável prevenindo futuras complicações.

Fragilidade, perfil e cognição de idosos residentes em área de alta vulnerabilidade social / Frailty, profile and cognition of elderly residents in a highly socially vulnerability area

Resumo O objetivo do estudo foi associar a fragilidade com perfil sociodemográfico e cognição de idosos residentes em contexto de alta vulnerabilidade social cadastrados em um Centro de Referência de Assistência Social em um município do interior paulista. Estudo transversal e quantitativo realizado com 48 idosos. Para a coleta de dados utilizou-se entrevista sociodemográfica, Escala de Fragilidade de Edmonton e Montreal Cognitive Assessment. Para a análise dos dados foi empregado teste de Jonckheere-Terpstra, correlação de Spearman e regressão logística (α = 5,0%). Dos 48 entrevistados, 33,4% não eram frágeis, 20,8% se mostraram aparentemente vulneráveis e 45,8% estavam frágeis em algum nível. As mulheres (OR = 4,64) e os de raça não branca (OR = 3,99) tiveram maior chance de apresentar fragilidade. Os domínios com maior influência na determinação da fragilidade foram: cognição, independência e desempenho funcional, estado geral da saúde e humor, embora sexo (p = 0,0373) e raça (p = 0,0284) tenham apresentado associação significativa. Destaca-se que considerar o perfil de fragilidade dos idosos subsidia o desenvolvimento de estratégias específicas de cuidado para este segmento populacional em área vulnerável prevenindo futuras complicações.

Abstract This study aimed to associate frailty with sociodemographic profile and cognition of elderly people living in highly socially vulnerable contexts registered at a Social Assistance Referral Centers in a city of inland São Paulo. This is a cross-sectional and quantitative study with 48 elderly. Data was collected with a sociodemographic interview, the Edmonton Frail Scale and the Montreal Cognitive Assessment, and was analyzed with the Jonckheere-Terpstra test, Spearman's correlation and logistic regression (α = 5.0%). This study was approved under Opinion Nº 72182. Of the 48 elderly interviewed, 33.4% were non-frail, 20.8% were apparently vulnerable and 45.8% were frail at some level (mild, moderate or severe). Women (OR = 4.64) and nonwhites (OR = 3.99) were more likely of being frail. The realms with the greatest influence in the determination of frailty were cognition, independence and functional performance, general health and mood, although gender (p = 0.0373) and ethnicity (p = 0.0284) had a significant association. Worth highlighting is that considering the frailty profile of the elderly warrants the development of specific care strategies for this segment of the population in a vulnerable area, preventing futures complications.

Cuerpo esqueletizado identificado por análisis morfológico del seno frontal y características del material de osteosíntesis - relato de caso pericial / Skeletonized body identified by analysis of frontal sinus morphology and characteristics of osteosynthesis material: a forensic case report

La odontología legal resulta fundamental para la identificación de víctimas en descomposición avanzada, carbonizadas o esqueletizadas. Este trabajo relata un caso de identificación humana, por medio de análisis morfológico del seno frontal y material de osteosíntesis. Un cuerpo esqueletizado fue sometido a examen antropológico, evidenciándose la existencia de tres placas de osteosíntesis en ambas regiones periorbitarias. Parientes de la supuesta víctima aportaron radiografías ante-mortem, en las que se aprecia una sola placa de osteosíntesis. Empero, tras la realización de exámenes imagenológicos del esqueleto, con la misma incidencia de los efectuados ante-mortem, se constató una clara semejanza morfológica del seno frontal y de la única placa de osteosíntesis presente en las imágenes ante-mortem y post-mortem. Así, fue posible identificar positivamente a la víctima, allanando el camino a la investigación criminal y realzando el rol de las imágenes radiográficas y caracteres anatómicos en el proceso de identificación humana.

Forensic dentistry is essential for the identification of highly decomposed and charred bodies, as well as skeletal remains. This study reports a case of human identification by analyzing the morphology of the frontal sinuses and osteosynthesis material. In the anthropological assessment of skeletal remains a surgical plate used for osteosynthesis was detected in the periorbital regions. Relatives of the potential victim provided ante-mortem (AM) radiographs which revealed the presence of an osteosynthesis plate. Post-mortem (PM) imaging exams were performed to reproduce the AM data. Similarities were observed between the AM and PM radiographs, especially regarding the morphology of the frontal sinuses and the position and outline of the surgical plate used for osteosynthesis. The comparison of AM and PM images made it possible to identify the victim and to aid the criminal investigation. It also highlighted the role of radiographs and anatomical characteristics in the process of human identification.

Lymphocyte immunotherapy for recurrent miscarriages: Predictors of therapeutic success.

PROBLEM: To evaluate the predictors of successful pregnancies in women with a history of recurrent miscarriages (RMs) having undergone lymphocyte immunotherapy (LIT). METHOD OF STUDY: Retrospective, multicenter, observational study which involved 702 pregnant women with history of RM treated with LIT. Comparative analysis of women with a history of RM having undergone LIT and experienced treatment success vs those having experienced treatment failure along with the analysis of the association between the number of prior miscarriages and the efficacy of LIT. RESULTS: A total of 421 women were able to carry the pregnancy to term, with treatment success rate of 60%. The multivariate analysis showed that age, the association between autoantibodies and thrombophilia, and the number of previous miscarriages were factors associated with LIT failure. Secondary RMs alone were not found to be a factor predictive of LIT success or failure; however, secondary RMs among women with a history of 5 or more RM were found to be a predictor of LIT success (OR: 10.24; 95% CI: 1.9-55.8; P = .007). CONCLUSION: Age, the number of previous miscarriages, and the association between autoantibodies and thrombophilia are associated with LIT failure. A higher number of previous miscarriages in cases of secondary RM resulted in better LIT outcomes.

Qualidade de vida de estudantes do Curso de Graduação em Gerontologia / Quality of life among undergraduate students of Gerontology

O presente estudo busca comparar a Qualidade de vida (QV) de graduandos em Gerontologia da Universidade Federal de São Carlos, segundo os períodos do curso. Participaram do estudo 105 estudantes. Para análise da QV, utilizou-se o instrumento WHOQOL-bref. Verificou-se que a percepção da QV dos graduandos em Gerontologia foi satisfatória em todos os domínios do WHOQOL-bref. Quanto à percepção da QV segundo o ano do curso, os acadêmicos do 2º ano apresentaram maior prejuízo da QV.

This study aims to compare the Quality of Life (QOL) of undergraduates in Gerontology of Federal University of São Carlos, in the periods of the course. 105 students participated in the study. To analyze QOL was used the WHOQOL-BREF instrument. It was found that the perception of QOL of undergraduates in Gerontology was satisfactory in all domains of the WHOQOL-BREF. Regarding the perception of QOL according the year of the course, the students of 2nd year showed higher impairment of QOL.

Qualidade de vida de estudantes do Curso de Graduação em Gerontologia / Quality of life among undergraduate students of Gerontology

O presente estudo busca comparar a Qualidade de vida (QV) de graduandos em Gerontologia da Universidade Federal de São Carlos, segundo os períodos do curso. Participaram do estudo 105 estudantes. Para análise da QV, utilizou-se o instrumento WHOQOL-bref. Verificou-se que a percepção da QV dos graduandos em Gerontologia foi satisfatória em todos os domínios do WHOQOL-bref. Quanto à percepção da QV segundo o ano do curso, os acadêmicos do 2º ano apresentaram maior prejuízo da QV.(AU)

This study aims to compare the Quality of Life (QOL) of undergraduates in Gerontology of Federal University of São Carlos, in the periods of the course. 105 students participated in the study. To analyze QOL was used the WHOQOL-BREF instrument. It was found that the perception of QOL of undergraduates in Gerontology was satisfactory in all domains of the WHOQOL-BREF. Regarding the perception of QOL according the year of the course, the students of 2nd year showed higher impairment of QOL.(AU)

Testes genéticos em diagnóstico pré-natal: onde estamos, para onde vamos / Prenatal genetic testing: where we are at, where we are heading to

Este texto tem como objetivo apresentar uma revisão acerca do estado da arte da citogenética convencional e molecular aplicada ao diagnóstico pré-natal, discutindo as aplicações, vantagens e desvantagens dos diferentes métodos, em suas bases teóricas e históricas. Desde 1960, a citogenética convencional, com a análise microscópica dos cromossomos em divisão, vem sendo utilizada como padrão ouro. Entretanto, mesmo adotando essa abordagem, para uma significativa parcela de casos não é possível estabelecer diagnóstico sindrômico definitivo em cerca de metade dos pacientes que apresentam cariótipo normal, na presença de malformações. Para esse grupo, as técnicas moleculares que envolvem estudos em nível genômico poderiam permitir a identificação de novos microarranjos cromossômicos possivelmente responsáveis pelo fenótipo anormal, contribuindo para a caracterização molecular e estabelecimento de um diagnóstico mais preciso, uma abordagem perinatal mais adequada e um aconselhamento genético mais detalhado. Destaca-se o advento das técnicas de FISH, SKY, CGH e array CGH como promissoras aliadas, de forma complementar ao cariótipo convencional

This paper aims at presenting a review of the state of the art of conventional and molecular cytogenetics applied to prenatal diagnosis, the applications, pros and cons of different techniques and their historical and theoretical background. Since 1960, conventional cytogenetics, based on the analysis of chromosomes has been used as a gold standard. However, for a significant proportion of cases it is not possible to establish definitive syndromic diagnosis in about half of the patients with normal karyotype in the presence of malformations. For this group, molecular techniques at the genomic level might allow the identification of new chromosomal areas potentially responsible for the abnormal phenotype, contributing to the molecular characterization and establishment of a more accurate diagnosis and the most appropriate perinatal approach, including a more detailed genetic counseling. The advent of FISH techniques, SKY, CGH and array CGH will be discussed as promising tools to complement cytogenetic diagnosis based on conventional karyotyping

Anencephaly: do the pregnancy and maternal characteristics impact the pregnancy outcome?

Objective. To describe the characteristics of obstetric and perinatal outcome of a group of pregnancies complicated by an anencephalic fetus. Methods. Observational study including anencephalic fetuses, divided into groups according to the evolution of pregnancy: elective termination of pregnancy ETP; stillbirths (SBs); live births (LBs), and loss of follow-up. After a univariate description of the sample, some variables were compared using statistical tests. Results. 180 anencephalic fetuses were included. The mean maternal age was 25.3 years. In 71 fetuses (39%) were found additional anomalies. Comparing the groups, no statistical differences in maternal age (P = 0.5315), parity (P = 0.6070), number of previous abortion (P = 0.7464), fetal sex (P = 0.0502) and additional anomalies (P = 0.186) were found. Among those fetuses whose parents opted for continuation of pregnancy (n = 53), 20 spontaneous intrauterine deaths occurred (38%) and 33 were live births (62%). The average postnatal survival time was 51 minutes. There was no association between survival time and gestational age (P = 0.6125) or the presence of additional malformations (P = 0.1948). Conclusion. Results presented here could contribute to a better understanding of the natural history of this malformation, allowing obstetricians a more detailed discussion with the families.

Identification of sex-determining region Y (SRY) in maternal plasma after paternal lymphocyte immunization: is it possible?

PROBLEM: Women treated with allogeneic immunization using paternal lymphocytes often request laboratory molecular tests using cell-free fetal DNA in maternal plasma. There is concern whether the treatment can interfere with its results. This study evaluated the applicability of fetal sex determination using fragments of sex-determining region Y (SRY) in the plasma of women submitted to paternal lymphocyte immunization. METHOD OF STUDY: Non-pregnant women blood samples were collected at two different moments: prior to paternal lymphocyte immunization and after three doses of the immunotherapy, in a prospective study. For women who became pregnant, another sample was collect during the first trimester. Amplification of the fragment of the Y chromosome (SRY) was performed using real-time PCR. RESULTS: The SRY gene was not identified in any of the plasma samples of the 50 non-pregnant women submitted to paternal lymphocyte immunization at either of the two moments evaluated. For the 26 pregnant women, the results of the identification of sex -determining in maternal plasma were completely in agreement with the infant sex. CONCLUSION: Paternal lymphocyte immunization does not affect the results of SRY fragment investigation in the plasma of women submitted to paternal lymphocyte immunization therapy.

O intervalo de tempo entre coleta e processamento do sangue de cordão umbilical influencia na qualidade da amostra? / Does the time between collecting and processing umbilical cord bloodsamples affect the quality of the sample?

Objective: To assess the association between the time from umbilical cord blood collection until processing and the quality of the sample. Methods: Umbilical cord blood samples collected during the third stage of labor were placed in temperature-controlled boxes for the transport of biological material and sent to an umbilical cord blood bank, where the number of nucleated cells, viable cells and CD34+ cells were counted, and samples were additionally tested for contamination at the following time intervals: up to 24 hours, up to 48 hours and up to 72 hours following sampling. Data were analyzed using the multivariate analysis of variance (MANOVA) and compared using McNemar's X2 test. Significance was defined at p < 0.05. Results: Means and medians of the number of nucleated cells, viable cells and CD34+ cells decreased significantly (p < 0.0001) as a function of the increased time between sampling and analysis, the difference between 24 and 48 hours being less than the difference between 24 and 72 hours. A linear correlation was found between the mean number of viable cells and CD34+ cells at the three moments of analysis. Contamination testing was negative in all samples. Conclusion: The increase in time interval from sampling until analysis negatively affected the number of nucleated cells, viable cells and CD34+ cells but was not associated with specimen contamination. A linear correlation was found between decrease in the number of viable cells and CD34+ cells.

Objetivo: Avaliar a associação do intervalo de tempo entre coleta e processamento do sangue de cordão umbilical e a qualidade da amostra. Métodos: As amostras de sangue de cordão umbilical, colhidas no terceiro período do parto, foram acondicionadas em caixas homologadas para transporte de material biológico, com monitoração da temperatura, e enviadas a um banco de sangue de cordão umbilical, onde foram submetidas à contagem do número de células nucleadas, do número de células viáveis, do número de células CD 34+ e pesquisa de contaminação, nos intervalos de tempo de até 24, até 48 e até 72 horas. Os dados foram analisados pelo teste de variância para medidas repetidas MANOVA e comparados por meio do teste do X2 de Mc Nemar, considerando-se nível de significância de 5%. Resultados: As médias e as medianas do número de células nucleadas, número de células viáveis e número de células CD34+ tiveram quedas significativas (p < 0,0001) com o aumento do intervalo de tempo de coleta/processamento, sendo entre 24 e 48 horas menor do que a comparação entre 24 e 72 horas. Constatada correlação linear entre as médias de células viáveis e células CD34+ nos três momentos da análise. A pesquisa de contaminação foi negativa em todas as amostras. Conclusão: O aumento do intervalo de tempo de coleta/processamento influenciou negativamente na contagem de células nucleadas, células viáveis e CD34+ e não esteve associado à contaminação das amostras. Foi constatada correlação linear entre a queda do número de células viáveis e de células CD34+.

Genomic imbalances detected through array CGH in fetuses with holoprosencephaly.

OBJECTIVE: Holoprosencephaly (HPE) is heterogeneous in pathogenesis, integrating genetic susceptibility with the influence of environmental factors. Submicroscopic aberrations may contribute to the etiology of HPE. Our aim was to report the molecular analysis of 4 fetuses with HPE and normal metaphase karyotype. METHOD: A whole genome BAC-array based Comparative Genomic Hybridization (array CGH) was carried out in fetal blood samples. All potential cytogenetic alterations detected on the arrays were matched against the known copy number variations databases. RESULTS: The array CGH analysis showed copy number gains and losses in all cases. We found a recurrent deletion in 15q14 (clone RP11-23J11) and in 15q22 (clone RP11-537k8) in 2 out 4 cases analyzed. We also observed submicroscopic gain in 6p21 in 3 out of 4 fetuses in nearby clones. All these regions were tested in known databases and no copy number variations have been described for them. CONCLUSION: This is the first report of molecular characterization through a whole genome microarray CGH of fetuses with HPE. Our results may contribute to verify the effectiveness and applicability of the molecular technique of array CGH for prenatal diagnosis purposes, and contributing to the knowledge of the submicroscopic genomic instability characterization of HPE fetuses.

Genomic imbalances detected through array CGH in fetuses with holoprosencephaly / Instabilidades genômicas detectadas através de array CGH em fetos com holoprosencefalia

OBJECTIVE: Holoprosencephaly (HPE) is heterogeneous in pathogenesis, integrating genetic susceptibility with the influence of environmental factors. Submicroscopic aberrations may contribute to the etiology of HPE. Our aim was to report the molecular analysis of 4 fetuses with HPE and normal metaphase karyotype. METHOD: A whole genome BAC-array based Comparative Genomic Hybridization (array CGH) was carried out in fetal blood samples. All potential cytogenetic alterations detected on the arrays were matched against the known copy number variations databases. RESULTS: The array CGH analysis showed copy number gains and losses in all cases. We found a recurrent deletion in 15q14 (clone RP11-23J11) and in 15q22 (clone RP11-537k8) in 2 out 4 cases analyzed. We also observed submicroscopic gain in 6p21 in 3 out of 4 fetuses in nearby clones. All these regions were tested in known databases and no copy number variations have been described for them. CONCLUSION: This is the first report of molecular characterization through a whole genome microarray CGH of fetuses with HPE. Our results may contribute to verify the effectiveness and applicability of the molecular technique of array CGH for prenatal diagnosis purposes, and contributing to the knowledge of the submicroscopic genomic instability characterization of HPE fetuses.

OBJETIVO: Holoprosencefalia (HPE) é uma malformação heterogênea na patogênese, integrando a suscetibilidade genética com a influência de fatores ambientais. Aberrações submicroscópicas podem contribuir para a etiologia da HPE. Nosso objetivo foi relatar a análise molecular de 4 fetos com HPE e cariótipo normal. MÉTODO: Foi realizado um estudo descritivo prospectivo dos achados da técnica de hibridação genômica comparativa baseada em microarranjos utilizando BAC clones de ampla cobertura genômica (BAC-array CGH) em amostras sanguíneas de fetos portadores de holoprosencefalia e com cromossomos numericamente normais ao bandamento G. Todas as potenciais alterações citogenéticas detectadas foram comparadas com bancos de dados com variações do número de cópias conhecidas. RESULTADOS: A análise de array CGH evidenciou ganhos e perdas do número de cópias em todos os 4 casos. Foram encontradas deleções recorrentes em 15q14 (clone RP11-23J11) e em 15q22 (clone RP11-537k8) em 2 dos 4 casos analisados. Observou-se em 3 fetos ganho genômico na região 6p21 em clones próximos. Todas estas regiões não apresentaram variações do número de cópias descritas em bancos de dados conhecidos. CONCLUSÃO: Este é o primeiro relato de caracterização molecular através de um microarray CGH de fetos com HPE. Nossos resultados podem contribuir para verificar a eficácia e aplicabilidade da técnica molecular de array CGH para fins de diagnóstico pré-natal, contribuindo para o conhecimento da caracterização de instabilidades genômicas submicroscópicas de fetos com HPE.

Does the time between collecting and processing umbilical cord blood samples affect the quality of the sample?

OBJECTIVE: To assess the association between the time from umbilical cord blood collection until processing and the quality of the sample. METHODS: Umbilical cord blood samples collected during the third stage of labor were placed in temperature-controlled boxes for the transport of biological material and sent to an umbilical cord blood bank, where the number of nucleated cells, viable cells and CD34+ cells were counted, and samples were additionally tested for contamination at the following time intervals: up to 24 hours, up to 48 hours and up to 72 hours following sampling. Data were analyzed using the multivariate analysis of variance (MANOVA) and compared using McNemar's χ2 test. Significance was defined at p < 0.05. RESULTS: Means and medians of the number of nucleated cells, viable cells and CD34+ cells decreased significantly (p < 0.0001) as a function of the increased time between sampling and analysis, the difference between 24 and 48 hours being less than the difference between 24 and 72 hours. A linear correlation was found between the mean number of viable cells and CD34+ cells at the three moments of analysis. Contamination testing was negative in all samples. CONCLUSION: The increase in time interval from sampling until analysis negatively affected the number of nucleated cells, viable cells and CD34+ cells but was not associated with specimen contamination. A linear correlation was found between decrease in the number of viable cells and CD34+ cells.

Congenital hydrocephalus: gestational and neonatal outcomes.

PURPOSE: To evaluate gestational and neonatal outcomes in pregnancies complicated by fetal hydrocephalus. METHODS: Retrospective analysis of 287 cases of fetal hydrocephalus followed at the Fetal Medicine Unit of the University of Campinas in the period of 1996 to 2006. RESULTS: Mean maternal age was 25 years, mean gestational age at diagnosis was 27 weeks. There were 50 cases of isolated ventriculomegaly, 95 cases of Chiari II malformation and 142 cases of ventriculomegaly associated with other malformations. Preterm delivery and vaginal delivery were more frequent in the group of ventriculomegaly associated with other malformations. Cardiac, skeletal and renal malformations were the most common associated malformations. Cesarean section was common (95%) in the Chiari II group. Fetal and neonatal death occurred more frequently (29 and 68%, respectively) in the group of ventriculomegaly associated with other malformations. Chromosomal anomalies were present in 15% of 165 investigated cases. CONCLUSIONS: Fetal and neonatal prognosis and outcome are associated with the presence of associated anomalies and aneuploidy.