Produção de subjetividade e figuras subjetivas no capitalismo contemporâneo / Producción de subjetividad y figuras subjetivas en el capitalismo contemporáneo / Production of subjectivity and subjective figures in contemporary capitalism

Resumo: O presente artigo tem como objetivo analisar as relações entre a produção de subjetividade e a crise neoliberal, tomando como referência as contribuições de Gilles Deleuze e Félix Guattari, Maurizio Lazzarato, Antônio Negri e Michael Hardt sobre o tema. Para tanto, apresentamos alguns dos principais conceitos relativos ao modo como Deleuze e Guattari compreenderam a subjetividade e sua produção em relação ao paradigma capitalista vigente. Em seguida, analisamos as figuras subjetivas produzidas pela crise neoliberal, apresentadas por Negri e Hardt e as possibilidades de resistência ou desvio frente às formas dominantes de subjetividades produzidas pelo capitalismo.

Resumen: Este artículo tiene como objetivo analizar las relaciones entre la producción de subjetividad y la crisis neoliberal, tomando como referencia los aportes de Gilles Deleuze y Félix Guattari, Maurizio Lazzarato, Antônio Negri y Michael Hardt sobre el tema. Para ello, presentamos algunos de los principales conceptos relativos con la forma en que Deleuze e Guattari entendieron la subjetividad y su producción en relación con el paradigma capitalista actual. A continuación, analizamos las figuras subjetivas producidas por la crisis neoliberal, presentadas por Negri y Hardt y las posibilidades de resistencia o desviación frente a las formas dominantes de subjetividades producidas por el capitalismo.

Abstract: This article aims to analyze the relationship between the production of subjectivity and neoliberal crisis, taking as a reference the contributions of Gilles Deleuze and Félix Guattari, Maurizio Lazzarato, Antônio Negri and Michael Hardt on the topic. To this end, we present some of the main concepts related to the way Deleuze and Guattari understood subjectivity and its production in relation to the current capitalist paradigm. Next, we analyze the subjective figures produced by neoliberal crisis, presented by Negri and Hardt and the possibilities of resistance or deviation in the face of the dominant forms of subjectivities produced by capitalism.

Gravidade e tempo de hospitalização de pacientes não críticos com lesão renal aguda / Gravedad y tiempo de hospitalización de pacientes no críticos con lesión renal aguda / Severity and lenght of hospitalization of non-critical patients with acute kidney injury

Objetivo: avaliar gravidade e tempo de hospitalização de pacientes não críticos com lesão renal aguda. Métodos: estudo observacional prospectivo com 137 pacientes realizado por meio de questionário estruturado para coleta de dados. Os testes qui-quadrado, exato de Fisher e Mann-Whitney foram empregados para análise estatística e considerou-se significativo resultado com p≤0,05. Aprovado pelo Comitê de Ética em Pesquisa. Resultados: oxigenoterapia por macronebulização resultou em maior mortalidade durante internação (p=0,001) e após alta hospitalar (p=0,02), assim como níveis elevados de sódio (p=0,0001 vs.p=0,005) e a ocorrência de lesão ou falência renal (p=0,02 vs.p=0,02). Necessidade de suporte ventilatório aumentou em 3,02 vezes o tempo de hospitalização(p=0,02). Conclusão: A lesão renal aguda foi frequente em mais da metade dos pacientes, sendo KDIGO 2 e 3 níveis de gravidade que se associaram com mortalidade intra-hospitalar e pós-alta. Paciente de maior gravidade (KDIGO 3) permaneceu maior tempo hospitalizado. A macronebulização em pacientes com traqueostomia triplicou o tempo de internação.

Objective: To assess severity and length of hospitalization of non-critical patients with acute kidney injury (AKI). Methods: Prospective observational study conducted with 137 patients, with data collected by a structured questionnaire. Statistical analysis was performed using chi-square, Fisher's exact and Mann-Whitney tests, with significance set as p≤0.05. The research was approved by the Research Ethics Committee. Results: Oxygen therapy by macro-nebulization resulted in higher mortality during hospitalization (p=0.001) and after discharge (p=0.02), as well as high levels of sodium (p=0.0001 vs. p=0.005) and the occurrence of kidney injury or failure (p=0.02 vs. p=0.02). Need for ventilatory support increased by 3.02 times the length of hospitalization (p=0.02). Conclusion: Acute kidney injury was frequent in more than half of the patients, with KDIGO 2 and 3 levels of severity that were associated with inpatient and post-discharge mortality. Most severe patients (KDIGO 3) remained hospitalized for a longer time. Macro-nebulization in patients with tracheostomy tripled the length of hospitalization

Objetivo: evaluar la gravedad y el tiempo de hospitalización de pacientes no críticos con lesión renal aguda. Métodos: estudio observacional prospectivo con 137 pacientes que utilizó un cuestionario estructurado para recopilar los datos. Para el análisis estadístico se utilizaron las pruebas Chi-cuadrado, Exacta de Fisher y Mann-Whitney, y se consideró significativo un resultado con p≤0,05. Aprobado por el Comité de Ética en Investigación. Resultados: con la oxigenoterapia con macronebulización se presentó mayor mortalidad durante la hospitalización (p=0,001) y después del alta hospitalaria (p=0,02), así como niveles elevados de sodio (p=0,0001 vs. p=0,005) y la ocurrencia de daño renal o insuficiencia renal (p=0,02 vs. p=0,02). La necesidad de soporte ventilatorio aumentó 3,02 veces el tiempo de estancia hospitalaria (p=0,02). Conclusión: La lesión renal aguda fue frecuente en más de la mitad de los pacientes, con niveles de severidad KDIGO 2 y 3 que se asociaron con mortalidad intrahospitalaria y postegreso. El paciente más grave (KDIGO 3) permaneció hospitalizado por más tiempo. La macronebulización en pacientes con traqueostomía triplicó el tiempo de estancia.

Algemas manageriales: Análise da avaliação do acesso e melhoria da qualidade em saúde no Brasil

Resumo: Este trabalho indaga o caráter avaliativo do Programa Nacional de Melhoria do Acesso e Qualidade da Atenção Básica na Atenção Primaria à Saúde no Brasil, a partir do caráter performativo deste instrumento no cenário mundial de crescente managerialização das políticas sanitárias. Objetivo: Compreender como a qualidade do acesso se define em termos práticos e quais ações são promovidas aos trabalhadores da Atenção Primaria à Saúde através da Portaria 1.645 e o Instrumento de Avaliação aplicado aos profissionais do Núcleo Ampliado de Saúde da Família e Atenção Básica. Métodos: Foi realizada uma Análise Pragmática do Discurso, com auxílio dos Softwares Atlas.ti 8 e Microsoft Excel 2010. Resultados: Os resultados revelam estândares e indicadores promovidos pelo Programa Nacional de Melhoria do Acesso e Qualidade da Atenção Básica, assim como o papel ambivalente de gestores e profissionais da saúde, entre seu caráter voluntário e proativo e, revelam o desmonte do modelo de Atenção Primária à Saúde sob lógica comunitária no Brasil, em comparação à abordagem do Novo Management Público e a atuação em função de indicadores. Conclusões: O papel do Estado na garantia de direito a saúde é minimizado e dá lugar ao Novo Management Público na saúde.

Resumen: Este trabajo cuestiona el carácter evaluativo del Programa Nacional para la Mejora del Acceso y la Calidad de la Atención Primaria en la Atención Primaria de Salud en Brasil, a partir del carácter performativo de este instrumento en el escenario mundial de creciente managerialización de las políticas sanitarias. Objetivo: Comprender cómo se define la calidad del acceso en términos prácticos y qué acciones se promueven a los trabajadores de Atención Primaria de Salud a través de la Ordenanza 1.645 y el Instrumento de Evaluación aplicado a los profesionales de Núcleo Ampliado de Saúde da Família e Atenção Básica. Métodos: Se realizó un Análisis Pragmático del Discurso, con la ayuda de Softwares Atlas.ti 8 y Microsoft Excel 2010. Resultados: Los resultados revelan estándares e indicadores promovidos por el Programa Nacional para la Mejora del Acceso y la Calidad de la Atención Primaria, así como el papel ambivalente de los gerentes y profesionales de la salud, entre su carácter voluntario y proactivo y revelan el desmantelamiento del modelo de Atención Primaria de Salud bajo lógica comunitaria en Brasil, en comparación con el enfoque del Nuevo Management Público y el desempeño en función de los indicadores. Conclusiones: Se minimiza el papel del Estado en la garantía del derecho a la salud y se da paso al Nuevo Management Público en la salud.

Abstract: This paper questions the evaluative process of the National Program for Improving Access and Quality of Primary Care in Primary Health Care in Brazil, based on the performative character of this instrument in the world scenario of increasing management of health policies. Objective: To understand how the quality of access is defined in practical terms and what actions are promoted to Primary Health Care workers through Ordinance 1,645 and the Evaluation Instrument applied to Extended Centers for Family Health and Primary Care professionals. Methods: A Pragmatic Discourse Analysis was performed, with the help of Atlas.ti 8 and Microsoft Excel 2010 Software. Results: The results reveal standards and indicators promoted by the National Program for Improving Access and Quality of Primary Care, as well as the ambivalent role of managers and health professionals, between their voluntary and proactive character and reveal the dismantling of the Primary Health Care model under community logic in Brazil, compared to the New Public Management approach and the performance in function of indicators. Conclusions: The role of the State in guaranteeing the right to health is minimized and gives way to New Public Management in healthcare.

Determination of Extra Craniofacial Abnormalities in Patients With Craniofacial Microsomia.

INTRODUCTION: Craniofacial microsomia (CFM) is caused by abnormalities in the development of the first and second pharyngeal arches. One-third to half of the patients with CFM also present with extra craniofacial (ECF) malformations. The knowledge of the visceral alteration related to CFM is vital for optimized care and a better prognosis. AIM: To describe the incidence of ECF malformations in patients with CFM and to infer if there was a correlation between CFM and ECF malformations. MATERIALS AND METHODS: The authors analyzed medical records of patients diagnosed with CFM from 1996 to 2006. The data collected included age, gender, category of craniofacial alteration, and the type of ECF malformation when present. The sample was inspected to find possible correlations between craniofacial abnormalities and ECF malformations. RESULTS: The sample included 102 patients, with a mean age of 7 years and a predominance of males (61.8%). Ear malformations (93.1%) followed by mandible (59.8%) and facial nerve (10.8%) abnormalities were the most common CFM. Among patients with CFM, 37.2% had ECF involvement, mainly in vertebrae (20%), heart (11%), and limbs (9.8%). Multivariate analysis revealed that the presence of ear malformations was related to a higher incidence of nonspecific visceral malformations (P = 0.034) and that mandible malformation was related to an increased incidence of vertebral malformations (P = 0.008). CONCLUSION: A significant percentage of patients with CFM presented associated ECF impairment. Ear and mandible involvement may be predictors of nonspecific visceral malformation and vertebral malformations, respectively.

Newborn Screening for the Detection of the TP53 R337H Variant and Surveillance for Early Diagnosis of Pediatric Adrenocortical Tumors: Lessons Learned and Way Forward.

The incidence of pediatric adrenocortical tumors (ACT) is high in southern Brazil due to the founder TP53 R337H variant. Neonatal screening/surveillance (NSS) for this variant resulted in early ACT detection and improved outcomes. The medical records of children with ACT who did not participate in newborn screening (non-NSS) were reviewed (2012-2018). We compared known prognostic factors between the NSS and non-NSS cohorts and estimated surveillance and treatment costs. Of the 16 non-NSS children with ACT carrying the R337H variant, the disease stages I, II, III, and IV were observed in five, five, one, and five children, respectively. The tumor weight ranged from 22 to 608 g. The 11 NSS children with ACT all had disease stage I and were alive. The median tumor weight, age of diagnosis, and interval between symptoms and diagnosis were 21 g, 1.9 years, and two weeks, respectively, for the NSS cohort and 210 g, 5.2 years, and 15 weeks, respectively, for the non-NSS cohort. The estimated surveillance/screening cost per year of life saved is US$623/patient. NSS is critical for improving the outcome of pediatric ACT in this region. Hence, we strongly advocate for the inclusion of R337H in the state-mandated universal screening and surveillance.

Genomic imbalances in syndromic congenital heart disease / Desequilíbrios genômicos na cardiopatia congênita sindrômica

Abstract Objective: To identify pathogenic genomic imbalances in patients presenting congenital heart disease (CHD) with extra cardiac anomalies and exclusion of 22q11.2 deletion syndrome (22q11.2 DS). Methods: 78 patients negative for the 22q11.2 deletion, previously screened by fluorescence in situ hybridization (FISH) and/or multiplex ligation probe amplification (MLPA) were tested by chromosomal microarray analysis (CMA). Results: Clinically significant copy number variations (CNVs ≥300 kb) were identified in 10% (8/78) of cases. In addition, potentially relevant CNVs were detected in two cases (993 kb duplication in 15q21.1 and 706 kb duplication in 2p22.3). Genes inside the CNV regions found in this study, such as IRX4, BMPR1A, SORBS2, ID2, ROCK2, E2F6, GATA4, SOX7, SEMAD6D, FBN1, and LTPB1 are known to participate in cardiac development and could be candidate genes for CHD. Conclusion: These data showed that patients presenting CHD with extra cardiac anomalies and exclusion of 22q11.2 DS should be investigated by CMA. The present study emphasizes the possible role of CNVs in CHD.

Resumo Objetivo: Identificar desequilíbrios genômicos patogênicos em pacientes que apresentam cardiopatias congênitas (CC) e anomalias extracardíacas e exclusão da síndrome de deleção 22q11.2 (SD22q11.2). Métodos: Foram avaliados por microarray cromossômico (CMA) 78 pacientes negativos para a deleção 22q11.2, previamente testados por hibridação in situ com fluorescência (FISH) e/ou amplificação de múltiplas sondas dependentes de ligação (MLPA). Resultados: Foram identificadas variações do número de cópias de DNA (CNVs) clinicamente significativas (≥ 300 kb) em 10% (8/78) dos casos, além de CNVs potencialmente relevantes em dois casos (duplicação de 993 kb em 15q21.1 e duplicação de 706 kb em 2p22.3). Genes envolvidos como IRX4, BMPR1A, SORBS2, ID2, ROCK2, E2F6, GATA4, SOX7, SEMAD6D, FBN1 e LTPB1 são conhecidos por atuar no desenvolvimento cardíaco e podem ser genes candidatos a CC. Conclusão: Esses dados mostram que pacientes que apresentam CC, com anomalias extracardíacas e exclusão da SD22q11.2, devem ser investigados por CMA. Ainda, este estudo enfatiza a possível função das CNVs nas CC.

Targeted molecular investigation in patients within the clinical spectrum of Auriculocondylar syndrome.

Auriculocondylar syndrome, mainly characterized by micrognathia, small mandibular condyle, and question mark ears, is a rare disease segregating in an autosomal dominant pattern in the majority of the families reported in the literature. So far, pathogenic variants in PLCB4, GNAI3, and EDN1 have been associated with this syndrome. It is caused by a developmental abnormality of the first and second pharyngeal arches and it is associated with great inter- and intra-familial clinical variability, with some patients not presenting the typical phenotype of the syndrome. Moreover, only a few patients of each molecular subtype of Auriculocondylar syndrome have been reported and sequenced. Therefore, the spectrum of clinical and genetic variability is still not defined. In order to address these questions, we searched for alterations in PLCB4, GNAI3, and EDN1 in patients with typical Auriculocondylar syndrome (n = 3), Pierre Robin sequence-plus (n = 3), micrognathia with additional craniofacial malformations (n = 4), or non-specific auricular dysplasia (n = 1), which could represent subtypes of Auriculocondylar syndrome. We found novel pathogenic variants in PLCB4 only in two of three index patients with typical Auriculocondylar syndrome. We also performed a detailed comparative analysis of the patients presented in this study with those previously published, which showed that the pattern of auricular abnormality and full cheeks were associated with molecularly characterized individuals with Auriculocondylar syndrome. Finally, our data contribute to a better definition of a set of parameters for clinical classification that may be used as a guidance for geneticists ordering molecular testing for Auriculocondylar syndrome. © 2017 Wiley Periodicals, Inc.

Identificação e recuperação da função renal em pacientes não dialíticos no cenário de terapia intensiva / Identification and recovery of renal function in non-dialytic patients in the intensive therapy scenario / Identificación y recuperación de la función renal en pacientes no dialíticos enterapia intensiva

Determinar o grau de comprometimento da função renal de pacientes que evoluíram com LRA não dialítica e identificar a frequência de recuperação da função renal na unidade de terapia intensiva (UTI). Método: estudo observacional, prospectivo e quantitativo desenvolvido com 90 pacientes após admissão na UTI. O acompanhamento ocorreu por 15 dias. Os dados foram coletados a partir dos registros do prontuário. Foram considerados significativos os resultados com p<0,05. Resultados: o uso de droga vasoativa e de ventilação mecânica se associou à ocorrência de lesão renal aguda (p=0,009; p= 0,001). Evoluíram com disfunção renal 95,6% dos pacientes, segundo a classificação Acute Kidney Injury Network (AKIN). De forma geral, 50% dos pacientes evoluíram com recuperação da função renal. Conclusão: a maior parte dos pacientes foi identificada com lesão ou falência renal, estágios de mais gravidade, segundo a classificação AKIN. A recuperação da função renal foi identificada em 50% dos pacientes.

To determine the degree of renal function impairment in patients who progressed with non-dialytic AKI and identify the frequency ofrenal function recovery in the intensive care unit (ICU). Method: this was an observational, prospective, and quantitative study developed with 90patients after admission to the ICU. The follow-up occurred for 15 days and data were collected from medical records. Results with p < 0.05 were considered significant. Results: the use of vasoactive drugs and mechanical ventilation was associated with the occurrence of acute renal injury (p= 0.009; p = 0.001). A total of 95.6% of patients evolved to renal dysfunction according to the Acute Kidney Injury Network (AKIN) classification. Overall, 50% of patients progressed to renal function recovery. Conclusion: most of the patients were identified with a lesion or renal failure, whichare more severe stages according to the AKIN classification. Renal function recovery was identified in 50% of patients.

Determinar el grado de compromiso de la función renal de pacientes con LRA no dialítica e identificar la frecuencia de recuperación dela función renal en la unidad de terapia intensiva (UTI). Método: Estudio observacional, prospectivo y cuantitativo con 90 pacientes después de laadmisión a la UTI, durante quince días. Los datos fueron recogidos de los expedientes médicos de los pacientes. Se consideraron significativos los resultados con p <0,05. Resultados: el uso de drogas vasoactivas y de ventilación mecánica fue asociado con la causa de la lesión renal aguda (p =0,009; p = 0,001). El 95,6% de los pacientes evolucionó a disfunción renal, según la clasificación de Acute Kidney Injury Network (AKIN). En general,el 50% de los pacientes evolucionó a recuperación de la función renal. Conclusión: La mayoría de los pacientes fue identificada con lesión o fallorenal, estadios de mayor gravedad, según la clasificación AKIN. La recuperación de la función renal fue identificada en el 50% de los pacientes.

A multicentric association study between 39 genes and nonsyndromic cleft lip and palate in a Brazilian population.

PURPOSE: The aim of this study was to use the TaqMan OpenArray system to evaluate associations between 39 genes and the etiology of nonsyndromic cleft lip and palate (NSCLP) in a Brazilian population. MATERIAL AND METHODS: This case-control association study was designed with 80.11% statistical power according to logistic regression (GPOWER software). The case group had 182 patients with NSCLP enrolled in the Brazilian Database on Orofacial Clefts. The controls included 355 healthy individuals with no history of oral clefting in the past three generations. All samples were genotyped for 253 tag single nucleotide polymorphisms (tagSNPs) in 39 genes, including two that had recently been associated with this process. The association analysis was performed using logistic regression and stepwise regression. The results were corrected for multiple testing [Bonferroni correction and False Discovery Rate (FDR)]. RESULTS: Twenty-four SNPs in 16 genes were significantly associated with the etiology of NSCLP, including MSX1, SPRY1, MSX2, PRSS35, TFAP2A, SHH, VAX1, TBX10, WNT11, PAX9, BMP4, JAG2, AXIN2, DVL2, KIF7, and TCBE3. Stepwise regression analysis revealed that 11 genes contributed to 15.5% of the etiology of NSCLP in the sample. CONCLUSION: This is the first study to associate KIF7 and TCEB3 with the etiology of NSCLP. New technological approaches using the same design should help to identify further etiological susceptibility variants.

Implementing the brazilian database on orofacial clefts.

Background. High-quality clinical and genetic descriptions are crucial to improve knowledge of orofacial clefts and support specific healthcare polices. The objective of this study is to discuss the potential and perspectives of the Brazilian Database on Orofacial Clefts. Methods. From 2008 to 2010, clinical and familial information on 370 subjects was collected by geneticists in eight different services. Data was centrally processed using an international system for case classification and coding. Results. Cleft lip with cleft palate amounted to 198 (53.5%), cleft palate to 99 (26.8%), and cleft lip to 73 (19.7%) cases. Parental consanguinity was present in 5.7% and familial history of cleft was present in 26.3% subjects. Rate of associated major plus minor defects was 48% and syndromic cases amounted to 25% of the samples. Conclusions. Overall results corroborate the literature. Adopted tools are user friendly and could be incorporated into routine patient care. The BDOC exemplifies a network for clinical and genetic research. The data may be useful to develop and improve personalized treatment, family planning, and healthcare policies. This experience should be of interest for geneticists, laboratory-based researchers, and clinicians entrusted with OC worldwide.

Estudo clínico e epidemiológico de fissuras orofaciais / Clinical and epidemiological study of orofacial clefts

OBJETIVO: Fissura labial com ou sem fissura palatina (FL ± P) ou fissura palatina (FP) são grupos de malformações chamados fissuras orofaciais (FO) e são a segunda causa de defeitos congênitos. O objetivo do estudo foi analisar características clínicas e epidemiológicas de pacientes brasileiros com FO, estudando casos tratados no centro de referência do estado do Paraná (PR). MÉTODOS: Foram analisados 2.356 gráficos. Destes, 1.838 foram avaliados pelo mesmo geneticista clínico. Os dados foram coletados no centro de referência e analisados na Secretaria de Estado da Saúde do Paraná. Foram avaliadas as características clínicas, a presença de outras anomalias e a prevalência de nascimentos. RESULTADOS: No total, 389 (21,2%) pacientes apresentaram fissura palatina (FP), 437 (23,8%) apresentaram fissura labial (FL) e 1.012 (55%) apresentaram fissura labiopalatina (FLP). As FO sindrômicas foram identificadas em 15,3% dos pacientes, 10,4% dos pacientes com FL ± P, e 33,9% dos pacientes com FP. Anomalias comuns adicionais foram: sistema nervoso central, membros, sistema cardiovascular e sistema musculoesquelético. O número de casos sindrômicos foi menor nos centros em que a avaliação clínica foi realizada por outros especialistas, em comparação aos locais em que ela foi realizada por um geneticista clínico. A prevalência de nascimentos foi de 1/1.010 nascidos vivos. A ausência de notificação junto ao cartório de registro civil foi observada em 49,9% dos casos de FL ± P. No Brasil, nossos dados sugerem uma redução de 18,52% na prevalência de FO não sindrômicas após a fortificação com ácido fólico. CONCLUSÃO: Um melhor entendimento dos aspectos clínicos e epidemiológicos das FO é fundamental para melhorar a compreensão de sua patogênese, promover estratégias de prevenção e promover orientações com relação a cuidados clínicos, com a presença de geneticistas clínicos na equipe multidisciplinar para tratamento de FO, por exemplo.

OBJECTIVE: Cleft lip with or without cleft palate (CL±P) or cleft palate (CP) are groups of malformations named orofacial clefts (OC), which are the second leading cause of birth defects. This study aimed to analyze clinical and epidemiological features of Brazilian patients with OC, studying cases treated in the reference center of the state of Paraná (PR). METHODS: 2,356 charts were reviewed and 1,838 were evaluated by the same clinical geneticist. Data were collected in the reference center, and compared with those of the Health Department of the state of Paraná. Clinical characteristics, presence of other anomalies, and birth prevalence were evaluated. RESULTS: 389 (21.2%) patients had CP, 437 (23.8%) had cleft lip (CL), and 1,012 (55%) had cleft lip and palate (CLP). Syndromic OC were identified in 15.3% of patients, 10.4% of patients with CL±P, and 33.9% of patients with CP. Common additional anomalies were: central nervous system, limbs, cardiovascular, and musculoskeletal defects. The number of syndromic cases was lower when clinical evaluation was performed by other medical specialists when compared to that of the clinical geneticist. Birth prevalence was 1/1,010 live births. Lack of notification with the national birth registry was observed in 49.9% of CL±P. The present data suggests a decrease of 18.52% in the prevalence of non-syndromic OC after folic acid fortification in Brazil. CONCLUSIONS: Better understanding of clinical and epidemiological aspects of OC is crucial to improve the understanding of pathogenesis, promote preventive strategies, and guide clinical care, including the presence of clinical geneticists in the multidisciplinary team for OC treatment.

Preliminary Analysis of the Nonsynonymous Polymorphism rs17563 in BMP4 Gene in Brazilian Population Suggests Protection for Nonsyndromic Cleft Lip and Palate.

Cleft lip with or without palate (CL±P) is common congenital anomalies in humans. Experimental evidence has demonstrated that bone morphogenetic protein 4 gene (Bmp4) is involved in the etiology of CL±P in animal models. The nonsynonymous polymorphism rs17563 T>C (p.V152A) in the BMP4 gene has been associated to the risk of nonsyndromic CL±P in Chinese population and microforms from different ethnic backgrounds. The aim of this study was to investigate the role of BMP4 gene in CL±P in Brazilian sample using genetic association approach. Our sample was composed by 123 patients with nonsyndromic CL±P and 246 controls, in which absence of CL±P was confirmed in 3 generations. The rs17563 polymorphism was genotyped by PCR-RFLP technique. Logistic regression was performed to evaluate allele and genotype association. Our data showed statistical power to detect association (86.83%) in this sample. Logistic regression results showed significant association between C allele and CL±P (P = 0.00018, OR = 0.40, and 95% CI = 0.25-0.65), as well as CC genotype and CL±P (P = 0.00018, OR = 0.35, and 95% CI = 0.19-0.66). So, there is a strong association between nonsyndromic CL±P and BMP4 rs17563 polymorphism in our sample and the C allele had a protective effect against the occurrence of nonsyndromic CL±P.

Correlação entre a gravidade da paralisia cerebral e a qualidade de vida de crianças, adolescentes e seus cuidadores / Correlation between severity of cerebral palsy and quality of life of children, adolescents and their caregivers

Introdução: A paralisia cerebral (PC) é caracterizada por um distúrbio não progressivo que interfere na postura e no movimento, podendo repercutir negativamente na qualidade de vida (QV), tanto dos indivíduos acometidos quanto de seus cuidadores. Objetivos: O objetivo deste estudo foi verificar se existe correlação entre a gravidade da PC e a) a QV de crianças/adolescentes e b) a QV de seus cuidadores. Métodos: Trata-se de um estudo transversal, descritivo e exploratório. A QV de crianças e adolescentes, com diagnóstico comprovado de PC, foi avaliada por meio do CHQ-PF50 e a gravidade da PC, classificada de acordo com o GMFCS. A QV dos cuidadores foi avaliada por meio do SF-36. Os participantes do estudo foram recrutados em quatro instituições da Grande Belo Horizonte, MG. Resultados: Foram incluídos no estudo 88 crianças/adolescentes com PC, com idade média de 8,94 + 4,4 anos, bem como um de seus cuidadores primários (75 mães e 13 pais, com idade média de 30,6 + 6,7). O coeficiente de correlação de Spearman demonstrou correlação estatisticamente significativa, entretanto, de fraca a regular (r<0.4, p<0.05), entre a gravidade do acometimento e o domínio ?função física? do CHQ-PF50 e entre a gravidade do acometimento e o domínio ?dor? do SF-36. Conclusões: Os resultados deste estudo sugerem que a QV de crianças e adolescentes com PC e a QV de seus cuidadores parecem ser parcialmente influenciadas pela gravidade da patologia.

Chromosome 19p13.3 deletion in a child with Peutz-Jeghers syndrome, congenital heart defect, high myopia, learning difficulties and dysmorphic features: Clinical and molecular characterization of a new contiguous gene syndrome.

The Peutz-Jeghers syndrome (PJS) is an autosomal-dominant hamartomatous polyposis syndrome characterized by mucocutaneous pigmentation, gastrointestinal polyps and the increased risk of multiple cancers. The causative point mutation in the STK11 gene of most patients accounts for about 30% of the cases of partial and complete gene deletion. This is a report on a girl with PJS features, learning difficulties, dysmorphic features and cardiac malformation, bearing a de novo 1.1 Mb deletion at 19p13.3. This deletion encompasses at least 47 genes, including STK11. This is the first report on 19p13.3 deletion associated with a PJS phenotype, as well as other atypical manifestations, thereby implying a new contiguous gene syndrome.

Chromosome 19p13. 3 deletion in a child with Peutz-Jeghers syndrome, congenital heart defect, high myopia, learning difficulties and dysmorphic features: clinical and molecular characterization of a new contiguous gene syndrome

The Peutz-Jeghers syndrome (PJS) is an autosomal-dominant hamartomatous polyposis syndrome characterized by mucocutaneous pigmentation, gastrointestinal polyps and the increased risk of multiple cancers. The causative point mutation in the STK11 gene of most patients accounts for about 30 percent of the cases of partial and complete gene deletion. This is a report on a girl with PJS features, learning difficulties, dysmorphic features and cardiac malformation, bearing a de novo 1.1 Mb deletion at 19p13.3. This deletion encompasses at least 47 genes, including STK11. This is the first report on 19p13.3 deletion associated with a PJS phenotype, as well as other atypical manifestations, thereby implying a new contiguous gene syndrome.

Seriam as apolipoproteínas A e B mais eficientes do que as lipoproteínas na investigaçäo de risco de doença arterial coronariana obstructiva? / Are apolipoprotein A and B better than lipoproteins for assessing risk of obstructive coronary heart disease?

Objetivo - Avaliar se as apolipoproteínas A (ApoA-I) e B (ApoB) São melhores que lipoproteínas (LP), colesterol total (CT), colesterol de alta densidade (HDL), baixa densidade (LDL), muito baixa densidade e triglicerídeos (TGL) para aferir o risco coronariano. Métodos - Estudo transversal de caso-controle, incluindo de 241 pacientes, divididos em dois grupos: 1) com doença arterial coronariana (DAC), constituído de 145 pacientes, média de idade 61,5 anos e 2) com 96 pacientes sem coronariopatia, média de idade 56,7 anos. O poder da amostra foi de 80 por cento e o p-alfa significativo foi inferior a relação entre as LP e DAC foi realizado, no qual doram incluídas as variáveis com um p-alfa inferior a 0,1. Resultados - Em modelo de regressão logística, a ApoA-I foi significantemente maior nos pacientes sem DAC (OR2,08, IC 1,20 - 3,57). Quanto aos valores preditivos positivos, não houve diferença estatística entre os valores da ApoA-I e demais frações lipídicas (ApoA-I: 67 por cento; ApoB: 100 por cento; CT: 71 por cento; TGC: 71 por cento; HDL: 71 por cento e LDL: 71 por cento). Os custos (em reais) foram, respectivamente, ApoA-I56,60; ApoB-100 56,60; CT9,94; HDL21,30; LDL 28,40; TGL 14,20. Conclusão - As dosagens séricas das ApoA-I e ApoB não têm vantagens sobre as lipoprotéinas convencionais para a previsão de risco coronariano, apesar da associação estatística entre ApoA-I e DAC, sendo seu custo mais elevado.

Estudo comparativo da identificaçäo de isquemia miocárdica pela cineventriculografia contrastada sob efeito de mononitrato de isossorbitol e pela cintilografia miocárdica perfusional em portadores de cardiopatia isquêmica / Comparative study for the identification of myocardial ischemia by contrast ventriculography under the effect of isosorbide mononitrate and by perfusional myocardial scintigraphy in patients with ischemic heart disease

Objetivo - Avaliar a utilidade das cineventriculografias esquerdas constratadas sob o efeito de nitrato na Identificação de isquemia miocárdica e comparar com os achados da cintilografia miocárdica. Métodos - Foram estudadas as ventriculografias obtidas antes e após o uso de 0,3 mg/kg de mononitrato de iosossorbitol de 26 pacientes portadores de cardiopatia isquêmica (CI). A motilidade segmentar e o desempenho do ventrículo esquerdo (VE) foram posteriormente comparados com os achados da cintilografia com (99m)Tc-Sestamibi. Resultados - Em condições basais foram identificados 30 segmentos normais, 62 hipocinéticos, 28 discinéticos e 14 acinéticos. Após o medicamento 99 segmentos foram normais, 11 hipocinéticos, 11 discinéticos e 13 acinéticos. A cintilografia miocárdica apresentou 110 segmentos com isquemia e 18 com fibrose (p<0,005). Após o uso do medicamento, a cineventriculografia contrastada identificou aumento da velocidade de encurtamento circunferencial (p=0,0142), da fração de ejeção (p=0,0462), diminuição do volume sistólico final (p=0,0031), e sem alteração do volume diastólico final.