Avaliação etiológica da deficiência mental em pacientes brasileiros

INTRODUCTION: Mental retardation is present in approximately 2-3 % of the population. Clinical geneticists are frequently asked to evaluate children with development delay or mental retardation. Identifying the cause of the mental retardation will benefit individuals and families, answering questions about management, prognosis, recurrence risks and prevention.MATERIAL AND METHODS: A genetic diagnostic survey in a population of 260 mentally retarded institutionalized patients in the South of Brazil is presented.RESULTS: The patients had a male:female ratio of 1.3:1 and their ages varied from 1 month to 47 years with a mean of 5 years and one month. Using personal and family data,  careful clinical examination and laboratory investigation, the authors established a definitive diagnosis in 171 patients (65.76%). A constitutional disorder was present in 147 patients (56.53%).CONCLUSION: Down syndrome patients represented 32.30% and 3,84% had other chromosomal anomalies, including microdeletion syndromes. In 32 patients (12.30%) a mendelian inheritance disorder was diagnosed. In eleven patients (4.23%) a MCA/MR syndrome was recorded. Ten patients (3.84%) presented a CNS malformation. An acquired condition was observed in 26 patients (10%), representing 7.69 % of CNS dysfunction, 2.3% of pre- or postnatal infection and 0.4% of postnatally acquired conditions other than infections. In the remaining 87 patients (34.46%) a conclusive diagnosis was not possible.INTRODUÇÃO: Retardo mental está presente em aproximadamente 2-3% da população. Geneticistas clínicos são chamados freqüentemente para avaliar crianças com atraso no de senvolvimento neuropsicomotor ou deficiência mental. A identificação da causa da deficiência mental irá beneficiar o indivíduo e famílias, respondendo questões sobre manejo, prognóstico, risco de recorrência e prevenção.MATERIAL E MÉTODOS: Análise genético-clínica numa população de 260 deficientes men tais de uma instituição é apresentada.RESULTADOS: Os 260 pacientes distribuíram-se numa razão de 1.3 do sexo masculino para 1 do sexo feminino. A idade variou de 1 mês a 47 anos com a mediana de 5 anos e um mês. Usando dados pessoais e familiares, exame físico detalhado e investigação laboratorial, os autores estabeleceram diagnóstico definitivo em 171 pacientes (65,76%). Alterações constitucionais estavam presentes em 147 pacientes (56,53%).CONCLUSÃO: Pacientes com Síndrome de Down representaram 32,20% e 3,84% apresentaram anomalias envolvendo outros cromossomos, incluindo síndromes de microdeleção. Em 32 pacientes (12,30%) uma doença mendeliana foi diagnosticada. Em 11 pacientes (4,23%) uma anomalia congênita múltipla/retardo mental (ACM/RM) foi diagnosticada. Dez pacientes (3,84%) apresentaram uma malformação do sistema nervoso central (SNC). Uma condição adquirida foi observada em 26 pacientes (10%), representando 7,69% de disfunção do SNC, 2,3% de infecção pre ou pós-natal e 0,4% de dano pós-natal, excluindo infecções. Em 87 pacientes (34,46%) não foi possível determinar um diagnóstico

Investigação de erros inatos do metabolismo

Inborn errors of metabolism are inherited metabolic disorders individually rare, but, taken together, their overall frequence is about 1 case out of 1000 newborns. The present study aimed to describe the main clinical features, as well as the general principles of investigation for these diseases. They were divided into two categories, one of the small molecules (aminoacidopathies, organic acidemias, etc) and the other of the complex molecules (lisossomal storage disorders, peroxisomal disorders, etc). Some of the most frequent groups of inborn errors of metabolism such as the aminoacidopathies, the organic acidemias and the mucopolissacharidosis, were discussed in detail.Os erros inatos do metabolismo são doenças metabólicas hereditárias individualmente raras, mas que em seu conjunto apresentam uma incidência aproximada de pelo menos 1 caso para cada mil nascimentos. O presente trabalho teve por objetivos descrever as principais manifestações clínicas, bem como os protocolos gerais de investigação diagnóstica para a maioria destes distúrbios. Para fins práticos, estas doenças foram divididas em duas categorias: das moléculas pequenas (aminoacidopatias, acideias orgânicas, etc) e das moléculas complexas (doenças lisossômicas de depósito, doenças peroxissomais, etc). Alguns grupos mais prevalentes de erros inatos do metabolismo, tais como as aminoacidopatias, as acidemias orgânicas e as mucopolissacaridoses, foram discutidos com maior ênfase

Angiomatose bacilar: descrição de 13 casos relatados em cinco centros de referência para tratamento de AIDS no Rio de Janeiro, Brasil

The aim of this case series was to describe the clinical, laboratory and epidemiological characteristics and the presentation of bacillary angiomatosis cases (and/or parenchymal bacillary peliosis) that were identified in five public hospitals of Rio de Janeiro state between 1990 and 1997; these cases were compared with those previously described in the medical literature. Thirteen case-patients were enrolled in the study; the median age was 39 years and all patients were male. All patients were human immunodeficiency virus type 1 (HIV-1) infected and they had previous or concomitant HIV-associated opportunistic infections or malignancies diagnosed at the time bacillary angiomatosis was diagnosed. Median T4 helper lymphocyte counts of patients was 96 cells per mm³. Cutaneous involvement was the most common clinical manifestation of bacillary angiomatosis in this study. Clinical remission following appropriate treatment was more common in our case series than that reported in the medical literature, while the incidence of relapse was similar. The frequency of bacillary angiomatosis in HIV patients calculated from two of the hospitals included in our study was 1.42 cases per 1000 patients, similar to the frequencies reported in the medical literature. Bacillary angiomatosis is an unusual opportunistic pathogen in our setting.Esta série de casos foi conduzida com o objetivo de descrever a apresentação clínica, as características epidemiológicas, os exames laboratoriais e a evolução dos casos de angiomatose bacilar (e/ou peliose parenquimatosa bacilar) ocorridos em cinco hospitais públicos do Rio de Janeiro, no período de 1990 a 1997, comparando a casuística encontrada com a relatada na literatura médica. Foram incluídos 13 pacientes com mediana de idade de 39 anos, sendo todos pertencentes ao sexo masculino. Todos os pacientes apresentaram infecções oportunistas e/ou neoplasias associadas ao vírus da imunodeficiência humana (HIV-1) anteriores (ou concomitantes) ao diagnóstico de angiomatose bacilar. A mediana da contagem de linfócitos T Helper encontrada foi de 96 células por mm³. O acometimento cutâneo foi a apresentação clínica de angiomatose bacilar mais freqüente deste estudo. A freqüência de remissão após tratamento específico foi discretamente maior do que a relatada na literatura médica, enquanto a de recidiva foi semelhante. A freqüência de angiomatose bacilar entre indivíduos infectados pelo HIV de dois hospitais do Rio de Janeiro foi de 1,42 casos por 1.000 pacientes, semelhante ao relatado na literatura médica e sugestivo de que a angiomatose bacilar é relativamente incomum em nosso meio

Cladophialophora carrionii: agente raro de cromoblastomicose no estado do Rio de Janeiro, Brasil

A 73 year-old male farm laborer from a rural area presented a 15 year history of extensive tumoral lesions over his left leg. Histological studies of skin biopsy showed pseudoepitheliomatous hyperplasia and granulomatous chronic inflammatory process with muriform cells, confirming chromoblastomycosis (CBM). Cladophialophora carrionii was isolated in culture. Treatment with itraconazole 400 mg/day for 12 months resulted in complete remission of lesions. As far we aware, this is the first case report of CBM caused by Cladophialophora carrionii in Rio de Janeiro State, Brazil.Lavrador, com 73 anos, residente em área rural apresentava há 15 anos lesões tumorais disseminadas na perna esquerda. Exame histopatológico de biópsia de pele mostrou hiperplasia pseudo-epiteliomatosa e processo inflamatório crônico granulomatoso com células muriformes, confirmando o diagnóstico de cromoblastomicose (CBM). Cladophialophora carrionii foi isolado na cultura. Tratamento com itraconazol 400 mg/dia durante 12 meses resultou na completa remissão das lesões. Este é o primeiro relato de CBM causado por C. carrionii no estado do Rio de Janeiro, Brasil

Investigação seletiva de 18 mil pacientes brasileiros de alto risco para a detecção de erros inatos do metabolismo

OBJECTIVE: The number of diagnosed inborn errors of metabolism (IEM) is growing constantly due to the improvement and widespread availability of analytical techniques. In 1982, a laboratory for the detection of IEM was set up in Porto Alegre, Brazil, and became a national reference centre for the diagnosis of these disorders. The aim of this study is to report the most frequent IEM diagnosed in our country.MATERIAL AND METHODS: Eighteen thousand patients with signs and symptoms suggestive of IEM were investigated in our laboratory from 1982 to 2000 using specific protocols which included tests for the detection of glucosaminoglycans (GAGS), amino acids, sugars, oligosaccharides, sialyloligosaccharides, organic acids, as well as various metabolites.RESULTS: The biochemical investigation was completed in 17,822 patients and an IEM was detected in 1,460 cases (8.5%). Groups of IEM of higher incidence in our sample were lysosomal storage disorders (59.4%) and aminoacidopathies (18.8%). The disorders most frequently diagnosed were Gaucher disease, GM1 gangliosidosis, mucopolysaccharidosis type I, classical phenylketonuria, mucopolysaccharidosis type VI and mucopolysaccharidosis type II.CONCLUSIONS: This study shows that the establishment of reference centres for the investigation of rare genetic diseases is a suitable approach to the study of IEM in developing countries such as Brazil.OBJETIVOS: O número de erros inatos do metabolismo (EIM) diagnosticados está crescendo constantemente devido ao aperfeiçoamento e disponibilidade das técnicas laboratoriais. Em 1982, foi estabelecido em Porto Alegre, Brasil, um laboratório para a detecção de EIM e este tornou-se um centro de referência nacional para o diagnóstico destes distúrbios. O objetivo deste trabalho é registrar os EIM mais freqüentes diagnosticados em nosso país.MATERIAL E MÉTODOS: Dezoito mil pacientes apresentando sinais e/ou sintomas sugestivos de um EIM foram investigados em nosso laboratório de 1982 a 2000, utilizando-se protocolos específicos que incluíam testes para a detecção de glicosaminoglicanos (GAGS), aminoácidos, açúcares,oligossacarídios, sialiloligossacarídios, ácidos orgânicos e outros metabólitos.RESULTADO: Dezessete mil oitocentos e vinte e dois pacientes completaram a imvestigação bioquímica e em 1.460 casos (8,5%) foi detectado um EIM. Os grupos de EIM de maior freqüência em nossa amostra foram as doenças lisossômicas de depósito (59,4%) e as aminoacidopatias (18,8%). Os distúrbios mais freqüentes foram a doença de Gaucher, a gangliosidose GM1, a mucopolissacaridose tipo I, a fenilcetonúria clássica, a mucopolissacaridose tipo VI e a mucopolissacaridose tipo II.CONCLUSÕES: Esse estudo mostrou que o estabelecimento de centros de referência para a investigação de doenças genéticas raras é adequado para o estudo de EIM em países em desenvolvimento como o Brasil

The influence of behavioral enrichment on dry food consumption by the black tufted-ear marmoset, Callithrix penicillata (Mammalia: Callithricidae): a pilot study

Stereotyped behaviors in captive primates are often caused by unsuitable conditions. Environmental enrichment has been used to reduce these behaviors, and also to increase the frequency of behaviors appropriate to the species. In this pilot study we evaluated whether behavioral enrichment influences food intake by the black tufted-ear marmoset, Callithrix penicillata (É. Geoffroy Saint-Hilaire, 1812), by calculating energy maintenance requirements. We evaluated 16 individually housed, healthy adult black tufted-ear marmosets, randomly divided into two treatment groups, one with behavioral enrichment and one without. The enrichment techniques included structural aspects, such as placing fixed and mobile objects in the cage and supplying dry foods in an enriched form, in order to stimulate cognition. Based on the metabolic weight of the animals, we calculated the energy requirements for their maintenance. The animals that received behavioral enrichment consumed more food than those that did not. We also observed that the animals that did not receive enrichment consumed 9.85% less food than had been calculated for energy maintenance requirements, while the animals that received enrichment consumed 24.97% more food than had been calculated. Results indicate that the use of behavioral enrichment items raised the energy requirements of the black tufted-ear marmoset and, therefore, the consumption of dry food, suggesting that environmental enrichment plays a role in stimulating food consumption. This conclusion should alert scientists, technicians and primatologists to the importance of controlling body weight of marmosets when introducing environmental enrichment to avoid overfeeding and obesity. To verify this conclusion, a study is needed with a longer time frame and more parameters, such as behavior observation and body weight

Height and body-mass index trajectories of school-aged children and adolescents from 1985 to 2019 in 200 countries and territories: a pooled analysis of 2181 population-based studies with 65 million participants

Summary Background Comparable global data on health and nutrition of school-aged children and adolescents are scarce. We aimed to estimate age trajectories and time trends in mean height and mean body-mass index (BMI), which measures weight gain beyond what is expected from height gain, for school-aged children and adolescents. Methods For this pooled analysis, we used a database of cardiometabolic risk factors collated by the Non-Communicable Disease Risk Factor Collaboration. We applied a Bayesian hierarchical model to estimate trends from 1985 to 2019 in mean height and mean BMI in 1-year age groups for ages 5–19 years. The model allowed for non-linear changes over time in mean height and mean BMI and for non-linear changes with age of children and adolescents, including periods of rapid growth during adolescence. Findings We pooled data from 2181 population-based studies, with measurements of height and weight in 65 million participants in 200 countries and territories. In 2019, we estimated a difference of 20 cm or higher in mean height of 19-year-old adolescents between countries with the tallest populations (the Netherlands, Montenegro, Estonia, and Bosnia and Herzegovina for boys; and the Netherlands, Montenegro, Denmark, and Iceland for girls) and those with the shortest populations (Timor-Leste, Laos, Solomon Islands, and Papua New Guinea for boys; and Guatemala, Bangladesh, Nepal, and Timor-Leste for girls). In the same year, the difference between the highest mean BMI (in Pacific island countries, Kuwait, Bahrain, The Bahamas, Chile, the USA, and New Zealand for both boys and girls and in South Africa for girls) and lowest mean BMI (in India, Bangladesh, Timor-Leste, Ethiopia, and Chad for boys and girls; and in Japan and Romania for girls) was approximately 9–10 kg/m2. In some countries, children aged 5 years started with healthier height or BMI than the global median and, in some cases, as healthy as the best performing countries, but they became progressively less healthy compared with their comparators as they grew older by not growing as tall (eg, boys in Austria and Barbados, and girls in Belgium and Puerto Rico) or gaining too much weight for their height (eg, girls and boys in Kuwait, Bahrain, Fiji, Jamaica, and Mexico; and girls in South Africa and New Zealand). In other countries, growing children overtook the height of their comparators (eg, Latvia, Czech Republic, Morocco, and Iran) or curbed their weight gain (eg, Italy, France, and Croatia) in late childhood and adolescence. When changes in both height and BMI were considered, girls in South Korea, Vietnam, Saudi Arabia, Turkey, and some central Asian countries (eg, Armenia and Azerbaijan), and boys in central and western Europe (eg, Portugal, Denmark, Poland, and Montenegro) had the healthiest changes in anthropometric status over the past 3·5 decades because, compared with children and adolescents in other countries, they had a much larger gain in height than they did in BMI. The unhealthiest changes—gaining too little height, too much weight for their height compared with children in other countries, or both—occurred in many countries in sub-Saharan Africa, New Zealand, and the USA for boys and girls; in Malaysia and some Pacific island nations for boys; and in Mexico for girls. Interpretation The height and BMI trajectories over age and time of school-aged children and adolescents are highly variable across countries, which indicates heterogeneous nutritional quality and lifelong health advantages and risks