18 research outputs found
Efeitos do chumbo sobre o cérebro em desenvolvimento
No presente trabalho procedeu-se à revisão de literatura dos efeitos do chumbo sobre o cérebro, com enfoque no desenvolvimento infantil. O chumbo pode permanecer no organismo durante toda a vida do indivíduo, sendo difícil a sua remoção. Não há nível estável seguro, considerando sua passagem lenta dos ossos para o sangue, com aceleração em condições como na gravidez. Há evidências de que o cérebro imaturo é um dos mais importantes alvos, e as pesquisas apontam para consequências mais tardias, em processos cerebrodegenerativos no adulto. Na infância, mesmo níveis sanguineos inferiores a 10 ?g/dL podem afetar a cognição. Estudos clínicos registram seus efeitos tóxicos na criança em idade escolar e na adolescência trazendo prejuízos motores, sensoriais, adaptativos, cognitivos e comportamentais, destacando-se a delinquência. Conclui-se, pela gravidade dos efeitos e dificuldade de tratamento, que o enfoque na orientação populacional sobre as medidas preventivas da exposição ao chumbo é prioritário.This work is a review of the lead effects on the brain, focusing on child development. Lead can remain in the body throughout the life, being difficulty its removal, and there is no safe stable level, considering its slow passage of the bones for blood, but acceleration in moments such as pregnancy. There is evidence that the immature brain is one of the most important targets. Surveys point to later consequence in adult life, as the degenerative brain disease. In the childhood, even blood levels under 10 ?g/dL may affect cognition. Clinical studies record their toxic effects in childhood and adolescence, bringing motor, sensory, adaptive, cognitive and behavioral losses, highlighting the crime itself. It is due to the severe effects on the developing nervous system and treatment difficulties, that the priority is the population guidance on the preventive measures of exposure to lead
Erros inatos do metabolismo no Hospital das Clínicas de Ribeirão Preto. Um legado de múltiplas especialidades
Inborn errors of metabolism (IEM) are genetic diseases, mostly due to enzyme deficiencies leading to severe metabolic damages, increasingly diagnosed. The aim is to describe the history of the development of IEM diagnosis and treatment in the Hospital of Clinics of Ribeirão Preto, São Paulo University (HCFMRP-USP). At the beginnings of the Post-Graduate Programs in the School of Medicine of Ribeirão Preto of São Paulo University (FMRP-USP), the first thesis on IEM was performed in 1980 on cystinuria in the area of Genetics; G6PD goal was the second in 1987 in Pediatrics. Since that time, IEM diagnosis was possible, in the sequence, due to the chromatography of amino acids routine by the Center for Protein Chemistry, FMRP-USP in 1984, the partnership with the Department of Genetics, Hospital of Clinics of Porto Alegre. RS in 1988 and the urine screening in the Nutrology Laboratory of FMRP-USP, that resulted of a Master in Neurology in 1990. In the last two decades: the specialized outpatients clinics, the Program for Neonatal Screening, treatment by enzyme replacement and support of the Stem Cell Transplantation Center were implemented. It is noteworthy that by 2009, just one more thesis was presented. The perspective for the development of this area is the consolidation of a line of research focused exclusively on the EIM in FMRP-USP.Erros inatos do metabolismo (EIM) são doenças genéticas decorrentes, em sua maioria, de deficiências enzimáticas que levam a graves distúrbios metabólicos, e que vem sendo cada vez mais diagnosticados. No presente texto relata-se um histórico sobre a evolução da abordagem diagnóstica e tratamento de EIM no HCFMRP-USP. Na FMRP-USP os EIM vêm sendo objeto de estudo em pós-graduação desde a década de 1980, dado o grande apelo clínico nas áreas de Genética Clínica, Pediatria e Neurologia Infantil, até então com auxílio do Laboratório de Patologia, além de convênio com a APAE de São Paulo para o diagnóstico de fenilcetonúria. Já iniciados os Programas de Pós-Graduação da FMRP-USP, a primeira tese a respeito foi realizada em 1980, sobre cistinúria, na Área de Genética; deficiência de glicose-6-fostato desidrogenase (G6PD) foi objetivo da segunda, em 1987, na de Pediatria. Desde essa época, garantem a rotina de investigação a realização da cromatografia de aminoácidos pelo Centro de Química de Proteínas da FMRP-USP, o convênio com o Serviço de Genética do HC de Porto Alegre-RS e a triagem urinária no Laboratório de Nutrologia, este, resultado de Mestrado em Neurologia em 1990. Nas duas últimas décadas vieram os ambulatórios especializados, o Programa de Triagem Neonatal, o tratamento por Reposição Enzimática e o apoio do Centro de Transplante de Células Tronco. Cabe ressaltar que até 2009, apenas mais uma tese foi apresentada. A perpectiva para o desenvolvimento dessa área é a consolidação de uma linha de pesquisa voltada exclusivamente para os EIM na FMRP-USP
Perinatal hypoxic-ischemic encephalopathy: acute period and outcome
Ninety four neonates with hypoxic ischemic encephalopathy HIE attended at the University of Ribeirão Preto since 1982 were studied in terms of the neurological alterations during the acute phase and outcome over a mean period of 47 months. From 43 newborns with HIE I, 40 recovered within 96 hours and 3 died. Among 40 infants with HIE II, 37.5% recovered within the first week, and the others continued abnormal beyond the 7th day. All 11 infants with HIE III died before the second month of life. The HIE I group had no motor sequelae. Among the HIE II group, 34.5% showed cerebral palsy and 17.7% neuromotor retardation. 80.0% of those with sequelae persisted abnormal beyond 7th day of life, during the acute phase of the HIE. Epilepsy occurred in 17.5% of cases with HIE grade II, only among those with neuromotor sequelae. The 1Q test did not show statistically significant difference between the HIE I, II without motor sequelae and the control groups. The authors reaffirm the value of the findings in the acute phase of HIE on the outcome of these patients.Noventa e quatro recém-nascidos com encefalopatia hipóxico-isquêmica (EHI), atendidos no Hospital das Clínicas de Ribeirão Preto desde 1982, foram avaliados evolutivamente na fase aguda e por período médio de 47 meses. De 43 casos com EHI 1,40 se recuperaram em 96 horas e 3 faleceram. Dos 40 com EHI II, 37,5% se recuperaram até o sétimo dia e demais permaneceram com alterações. Os 11 casos com grau III faleceram até o segundo mês de vida. As crianças com EHI grau I não apresentaram seqüelas motoras. Do grupo com EHI grau II 34,5% apresentaram paralisia cerebral e 17,7% atraso neuromotor. 80% dos casos com sequela apresentaram exame neurológico anormal além do sétimo dia, na fase aguda da EHI. Epilepsia ocorreu em 17,5% dos casos com EHI grau II e somente no grupo com seqüelas motoras. Teste de QI não evidenciou diferença significativa entre os grupos com grau I, II sem seqüelas motoras e o grupo controle. Com esses dados os autores reafirmaram a importância prognostica da evolução da EHI na fase aguda.77177
Encefalopatia hipóxico-isquêmica em recém-nascidos a termo: aspectos da fase aguda e evolução
Erros inatos do metabolismo confirmados no Hospital das Clínicas de Ribeirão Preto-SP no período de 2000 a 2008
Os Erros Inatos do Metabolismo (EIM) vêm sendo cada vez mais identificados nos últimos anos. A preocupação com o diagnóstico precoce decorre do foco na prevenção de deficiências, especialmente a mental. Este estudo descritivo teve por objetivo verificar diagnósticos confirmados e modalidades de tratamento utilizadas de janeiro de 2000 a dezembro de 2008. Método: foi realizada busca ativa de casos confirmados nos serviços que atendem esse tipo doença: neurologia (neuropediatria e doenças neuromusculares), pediatria (serviço de gastrologia e hepatologia) e genética clínica, além de levantamento no Serviço de Arquivo Médico do HCFMRP-USP. Foram confirmados 165 pacientes com EIM, com idades de um dia a 22 anos (mediana de um ano); 50 casos foram defeitos na síntese ou catabolismo de moléculas complexas, 65 no metabolismo intermediário, e 50 na produção ou utilização de energia. O tratamento foi instituído para 12 dos 50 pacientes do grupo I sendo reposição enzimática em 11 e transplante de medula óssea em um; todos do grupo II e III receberam orientação nutricional; 60 do grupo II receberam fórmula dietética industrializada; dos 50 do grupo III, 43 com mitocondriopatias receberam L-carnitina e coenzimas e aqueles com glicogenose, orientação sobre aporte de carbohidratos. A formação de novos recursos humanos, integração com a Rede EIM Brasil e linhas de pesquisa na área são prioridades para melhorar a acuidade na detecção e tratamento de erros inatos do metabolismo.Inborn Errors of Metabolism have been increasingly identified in recent years. The early diagnosis focuses on prevention of disabilities, especially mental retardation. This descriptive study aims to verify confirmed diagnosis and treatment modalities in HCFMRP-USP cases from January of 2000 to December of 2008. A total of 165 patients with ages ranging from one day to 22 years (median one year) were detected. Fifty patients had synthesis or catabolism of complex molecules (group I), 65 intermediary metabolism (group II), and 50 had production or use of energy (group III) defects. Among the patients of group I, 11 had enzyme replacement therapy, and one bone marrow transplantation; for group II and III, in addition to daily nutritional guidance for all of the patients, 60 from group II received industrialized diets; from group III, 43 with mitochondrial diseases received L-carnitine and coenzymes, and those with glycogenosis were focused mainly on the intake of carbohydrates. New human resources, integration with the Network EIM Brazil and lines of research in the area are priorities for improving the accuracy in the detection and treatment of inborn errors of metabolism
Proposal for a Trigonometric Method to Evaluate the Abduction Angle of the Lower Limbs in Neonates
It is difficult to precisely measure articular arc movement in newborns using a goniometer. This article proposes an objective method based on trigonometry for the evaluation of lower limb abduction. With the newborn aligned in the dorsal decubitus position, 2 points are marked at the level of the medial malleolus, one on the sagittal line and the other at the end of the abduction. Using the right-sided line between these 2 points and a line from the medial malleolus to the reference point at the anterior superior iliac spine or umbilical scar, an isosceles triangle is drawn, and half of the inferential abduction angle is obtained by calculating the sine. Twenty healthy full-term newborns comprise the study cohort. Intersubject and intrasubject variability among the abduction angle values (mean [SD], 37 degrees [4]degrees) is low. This method is advantageous because the measurement is precise and because the sine can be used without approximation
Gross Motor Function Classification System Expanded & Revised (GMFCS E & R): reliability between therapists and parents in Brazil
BACKGROUND: Several studies have demonstrated the importance of using the Gross Motor Function Classification System (GMFCS) to classify gross motor function in children with cerebral palsy, but the reliability of the expanded and revised version has not been examined in Brazil (GMFCS E & R). OBJECTIVE:: To determine the intra- and inter-rater reliability of the Portuguese-Brazil version of the GMFCS E & R applied by therapists and compare to classification provided by parents of children with cerebral palsy. METHOD: Data were obtained from 90 children with cerebral palsy, aged 4 to 18 years old, attending the neurology or rehabilitation service of a Brazilian hospital. Therapists classified the children's motor function using the GMFCS E & R and parents used the Brazilian Portuguese version of the GMFCS Family Report Questionnaire. Intra- and inter-rater reliability was obtained through percentage agreement and Cohen's unweighted Kappa statistics (k). The Chi-square test was used to identify significant differences in the classification of parents and therapists. RESULTS: Almost perfect agreement was reached between the therapists [K=0.90 (95% confidence interval 0.83-0.97)] and intra-raters (therapists) with K=1.00 [95% confidence interval (1.00-1.00)], p<0.001. Agreement between therapists and parents was substantial (k=0.716, confidence interval 0.596-0.836), though parents classify gross motor impairment more severely than therapists (p=0.04). CONCLUSIONS: The Portuguese version of the GMFCS E & R is reliable for use by parents and therapists. Parents tend to classify their children's limitations more severely, because they know their performance in different environments
Manual Ability Classification System (MACS): reliability between therapists and parents in Brazil
BACKGROUND: The Manual Ability Classification System (MACS) has been widely used to describe the manual ability of children with cerebral palsy (CP); however its reliability has not been verified in Brazil. OBJECTIVE: To establish the inter- and intra-rater reliability of the Portuguese-Brazil version of the MACS by comparing the classifications given by therapists and parents of children with CP. METHOD: Data were obtained from 90 children with CP between the ages of 4 and 18 years, who were treated at the neurology and rehabilitation clinics of a Brazilian hospital. Therapists (an occupational therapist and a student) classified manual ability (MACS) through direct observation and information provided by parents. Therapists and parents used the Portuguese-Brazil version of the MACS. Intra- and inter-rater reliability was obtained using unweighted Kappa coefficient (k) and intra-class correlation coefficient (ICC). The Chi-square test was used to identify the predominance of disagreements in the classification of parents and therapists. RESULTS: An almost perfect agreement resulted among therapists [K=0.90 (95% CI 0.83-0.97); ICC=0.97 (95%CI 0.96-0.98)], as well as with intra-rater (therapists), with Kappa ranging between 0.83 and 0.95 and ICC between 0.96 and 0.99 for the evaluator with more and less experience in rehabilitation, respectively. The agreement between therapists and parents was fair [K=0.36 (95% CI 0.22-0.50); ICC=0.79 (95% CI 0.70-0.86)]. CONCLUSIONS: The Portuguese version of the MACS is a reliable instrument to be used jointly by parents and therapists