Neurodevelopmental Syndrome with Intellectual Disability, Speech Impairment, and Quadrupedia Is Associated with Glutamate Receptor Delta 2 Gene Defect.

Bipedalism, speech, and intellect are the most prominent traits that emerged in the evolution of Homo sapiens. Here, we describe a novel genetic cause of an "involution" phenotype in four patients, who are characterized by quadrupedal locomotion, intellectual impairment, the absence of speech, small stature, and hirsutism, observed in a consanguineous Brazilian family. Using whole-genome sequencing analysis and homozygous genetic mapping, we identified genes bearing homozygous genetic variants and found a homozygous 36.2 kb deletion in the gene of glutamate receptor delta 2 (GRID2) in the patients, resulting in the lack of a coding region from the fifth to the seventh exons. The GRID2 gene is highly expressed in the cerebellum cortex from prenatal development to adulthood, specifically in Purkinje neurons. Deletion in this gene leads to the loss of the alpha chain in the extracellular amino-terminal protein domain (ATD), essential in protein folding and transport from the endoplasmic reticulum (ER) to the cell surface. Then, we studied the evolutionary trajectories of the GRID2 gene. There was no sign of strong selection of the highly conservative GRID2 gene in ancient hominids (Neanderthals and Denisovans) or modern humans; however, according to in silico tests using the Mfold tool, the GRID2 gene possibly gained human-specific mutations that increased the stability of GRID2 mRNA.

[Prevalence of antidepressant use and associated factors among adults in Pelotas, Rio Grande do Sul State, Brazil, 2006]. / Prevalência e fatores associados ao uso de antidepressivos em adultos de área urbana de Pelotas, Rio Grande do Sul, Brasil, em 2006.

The objective of this study was to estimate the prevalence and determinants of antidepressant use among adults in a city in southern Brazil. The cross-sectional study was based on interviews with adults 40 years or older living in the urban area of Pelotas, Rio Grande do Sul State, Brazil, 2006. The chi-squared test was used for comparisons between proportions. Non-conditional logistic regression was used for multivariate analysis, with robust adjustment for variance. A total of 1,327 adults were interviewed, of whom 9.3% had used antidepressants. Use of antidepressants was significantly associated with female gender (OR: 2.45; 95%CI: 1.50-4.02), higher socioeconomic status (OR: 2.07; 95%CI: 1.28-3.34), and unemployment (OR: 1.65; 95%CI: 1.06-2.55). The prevalence of antidepressant use was higher than in other studies. Identification of individual determinants of use can serve as the basis for strategies to decrease the consumption of antidepressants in these groups.

[Prevention of neural tube defects: prevalence of folic acid supplementation during pregnancy and associated factors in Pelotas, Rio Grande do Sul State, Brazil]. / Prevenção de defeitos do tubo neural: prevalência do uso da suplementação de ácido fólico e fatores associados em gestantes na cidade de Pelotas, Rio Grande do Sul, Brasil.

To determine folic acid use and associated factors, a cross-sectional population-based study was conducted in all five maternity hospitals in Pelotas, Rio Grande do Sul State, Brazil. Data were collected from April 1 to August 15, 2006 (n = 1,450 women). A standard questionnaire was applied in the hospitals. Statistical analysis used Poisson regression. Prevalence of folic acid consumption during pregnancy was 31.8%, and periconceptional use was 4.3%. The following were associated with folic acid use: white skin color, schooling > 9 years, family income > R$600, age > 30 years, planned pregnancy, > or =7 prenatal visits, knowledge on folic acid, and prenatal care in the private health system. In order to prevent neural tube defects, it is important to promote folic acid use among childbearing-age women and to supply folic acid to poor women.

[Frequency of multiple neonatal malformations in Pelotas, Rio Grande do Sul, Brazil, and associated socio-demographic factors]. / Freqüência das malformações múltiplas em recém-nascidos na Cidade de Pelotas, Rio Grande do Sul, Brasil, e fatores sócio-demográficos associados.

This study aimed to estimate the frequency and to correlate the possible causal agents and monitor the occurrence of multiple neonatal malformations in Pelotas, Rio Grande do Sul, Brazil. The study included all births from 1990 to 2002 in the local maternity hospitals with birth weight > 500 g. Each newborn presenting a malformation (case) was assigned a live matched neonate (control) without any malformation and of the same sex. A database was established by filling out the ECLAMC-MONITOR forms, 1982 edition, tabulated with SPSS. Statistical analysis used Student t and chi2. During the study period, 71,500 children were born, of whom 0.11% presented multiple malformations. Significant results were found for birth weight, twin births, parents' ethnic background, paternal age, and number of previous abortions and stillbirths. In Pelotas, the proportion of newborns with malformations during the study period was 1.37%. Of these, 8.1% presented multiple malformations, predominantly in females and in births occurring during the winter.

Pili canaliculi as manifestation of giant axonal neuropathy.

Giant axonal neuropathy is a rare autosomal recessive neurodegenerative disease. The condition is characterized by neurons with abnormally large axons due to intracellular filament accumulation. The swollen axons affect both the peripheral and central nervous system. A 6-year old female patient had been referred to a geneticist reporting problems with walking and hypotonia. At the age of 10, she became wheelchair dependent. Scanning electron microscopy of a curly hair classified it as pili canaliculi. GAN gene sequencing demonstrated mutation c.1456G>A (p.GLU486LYS). At the age of 12, the patient died due to respiratory complications. Dermatologists should be aware of this entity since hair changes are considered suggestive of GAN.

[Infantile colic incidence and associated risk factors: a cohort study]. / Incidência de cólica no lactente e fatores associados: um estudo de coorte.

OBJECTIVE: To assess the incidence of infantile colic and its determinants. METHODS: Between May and July 1999, the research team performed daily visits to the three main maternities of Pelotas. All women were interviewed after the delivery and their infants were targeted for follow-up at three months. Colic was defined according to Wessel. The following risk factors were evaluated: social class, mother's educational level, parents' age, parents' divorce, changes in the parents' relationship during pregnancy, type of delivery, reproductive history, quality of prenatal care, previous abortion, previous stillbirths, previous newborn with health problems, gender, and infant's feeding pattern. Chi-square test was used to compare proportions and conditional logistic regression was applied in the multivariate model. RESULTS: We managed to follow 1,086 of the 1,195 infants. At the three months visit, 80.1% of the mothers reported that their infants had had colic. On the other hand, only 16.3% was considered as having colic according to Wessel criteria. Mother's educational level, father's age, type of delivery and breast-feeding duration remained in the multivariate model. Even after controlling for possible-confounding factors, the chances of having colic was 1.86 times higher among non-breastfed infants than among breastfed infants. CONCLUSIONS: Most mothers misclassify the occurrence of colic. Breastfeeding is the main protective factor.

Alterations of ectonucleotidases and acetylcholinesterase activities in lymphocytes of Down syndrome subjects: relation with inflammatory parameters.

BACKGROUND: Subjects with Down syndrome (DS) have an increased susceptibility to infections and autoimmune disorders. ATP, adenosine, and acetylcholine contribute to the immune response regulation, and NTPDase, adenosine deaminase (ADA) and acetylcholinesterase (AChE) are important enzymes in the control of the extracellular levels of these molecules. We evaluated the activities of these enzymes and the cytokine levels in samples of DS individuals. METHODS: The population consisted of 23 subjects with DS and 23 healthy subjects. Twelve milliliters of blood was obtained from each subject and used for lymphocyte and serum preparation. Lymphocytes were separated on Ficoll density gradients. After isolation, NTPDase and AChE activities were determined. RESULTS: The NTPDase activity using ADP as substrate was increased in lymphocytes of DS patients compared to control (P<0.05); however, no alterations were observed in the ATP hydrolysis. An increase was observed in the AChE activity in lymphocytes and in ADA activity in serum of DS patients when compared to healthy subjects (P<0.05). In DS subjects, an increase in the levels of IL-1ß, IL-6, TNF-α and IFN-γ and a decrease in the IL-10 levels were also observed (P<0.05). CONCLUSIONS: Alterations in the NTPDase, ADA and AChE activities as well changes in the cytokine levels may contribute to immunological alterations observed in DS.

Pili canaliculi as manifestation of giant axonal neuropathy

Abstract Giant axonal neuropathy is a rare autosomal recessive neurodegenerative disease. The condition is characterized by neurons with abnormally large axons due to intracellular filament accumulation. The swollen axons affect both the peripheral and central nervous system. A 6-year old female patient had been referred to a geneticist reporting problems with walking and hypotonia. At the age of 10, she became wheelchair dependent. Scanning electron microscopy of a curly hair classified it as pili canaliculi. GAN gene sequencing demonstrated mutation c.1456G>A (p.GLU486LYS). At the age of 12, the patient died due to respiratory complications. Dermatologists should be aware of this entity since hair changes are considered suggestive of GAN.

[Oral health conditions diagnostic in cerebral palsy individuals of Pelotas, Rio Grande do Sul State, Brazil]. / Diagnóstico das condições de saúde bucal em portadores de paralisia cerebral do município de Pelotas, Rio Grande do Sul, Brasil.

Cerebral Palsy (CP) is an encephalic static lesion defined as a non-progressive disorder of movements and posture. It is usually associated with epilepsy, speaking, hearing and sight disorders and also mental retardation. Even though, people who have CP need special care for the prevention of factors linked to oral problems, in the odontological context, the literary information is contradictory when it comes to the incidence of oral diseases on patients who have cerebral palsy. In order to determine the oral health and associated factors conditions, an epidemiological research has been made in 41 children who have cerebral palsy. The variables taken into account were: social-economical aspects, risk factors for the development of oral diseases, access to odontological care, caries index, periodontal disease, malocclusion and dental fluorose. Children who were examined showed a higher level of gingivitis and caries experience, mainly on the primary dentition, and also severe malocclusions, factors that indicate the need of early intervention, whether with educational programs or healing assistance. The study has shown that, in addition to the quantitative necessity of care, it is also necessary to improve the quality of these patients' consultations.

[Monitoring the genotoxic action in shoe workers by micronucleus test, Pelotas, Rio Grande do Sul State]. / Monitoramento da ação genotóxica em trabalhadores de sapatarias através do teste de micronúcleos, Pelotas, Rio Grande do Sul.

In this paper it was investigated the micronuclei frequency in exfoliated oral mucosa cells in shoe shop workers in the city of Pelotas, RS. The study counted on 54 shoe workers exposed to glue and solvents and 54 controls. It was evaluated the incidence of cells with micronucleus (CMN), bi-nucleus (CBN), linked nucleus (CLN) and total amount of anomalies (TAA), in 2000 cells per person. A database was created in the SPSS 'for Windows' software using the Mann-Whitney U, p<0.05 test. The average of anomalies among shoe workers was 8.69+/-6.49CMN; 8.85+/-4.92CBN; 5.78+/-4.78CNL; 23.31+/-10.01TA, in the controlled 4.00+/-5.05CMN; 4.63+/-4.35CBN; 4.76+/-5.00CNL; 13.39+/-9.43TA (p=0.0001; p=0.0001; p=0.144 and p=0.0001 respectively). It was also evaluated the age, gender, time of work, family income, smoke, alcohol beverages, the influence of dermatological, ophthalmological, respiratory and central nervous system (CNS) diseases in the number of cell anomalies. These items did not have any influence. It was only observed that among the age group of 15 to 29 years old the number of CNL was bigger than among the age group of 45 to 72. Among those with time of work of 0.1 and 10 years presented a higher CNM than in the other group range.

A Brazilian family with quadrupedal gait, severe mental retardation, coarse facial characteristics, and hirsutism.

This article describes the case of four brothers, born of a consanguineous couple, that present a severe mental retardation syndrome, coarse facial characteristics, hirsutism, quadrupedal gait (pithecoid walk), small stature, absence of speech, strabismus as well as having small hands and feet. This case seems to be a behavioral syndrome, which was inherited in an autosomal recessive manner not previously recorded.

Avaliação da atividade mutagênica da infusão de Baccharis trimera (Less.) DC. em teste de Allium cepa e teste de aberrações cromossômicas em linfócitos humanos / Evaluation of mutagenic activity resulting from the infusion Baccharis trimera (Less.) DC. using the Allium cepa test and a chromosomal test for aberrations in human lymphocytes

A carqueja (Baccharis trimera(Less.) DC.) é uma planta medicinal da família Asteraceae muito utilizada como chá no sul do Brasil no tratamento de doenças renais, intestinas, estomacais e principalmente como emagrecedora. O objetivo desde trabalho foi de avaliar a mutagenicidade in vivoe in vitrodo chá e para isso foi realizado o teste de Allium cepaL. e o de aberrações cromossômicas em linfócitos humanos utilizando quatro tratamentos: T1 (água); T2 (20 g/L de carqueja); T3 (200 g/L de carqueja), e T4 (paracetamol, a 400 mg/L). Ambos os procedimentos foram analisados pelo teste Mann-Whitney U. Este estudo evidencia um efeito mutagênico do chá em células vegetais (Allium cepa) e em células humanas (aberrações cromossômicas) cultivadas, pois em ambos os testes, T2 e T3 obteve-se uma média mais elevada que nos outros tratamentos. Este estudo demonstra que o efeito é dependente da dose, portanto recomenda-se que o chá de carqueja seja consumido com moderação.

Broom (Baccharis trimera(Less.) DC.) is a medicinal plant from Asteraceae that is commonly used as a tea in the south of Brazil for the treatment of renal, intestinal and stomach diseases. It is also used as a slimming agent. The aim of this study was to evaluate the mutagenicity of the tea in vivoand in vitro. In order to do this, the Allium cepatest was carried out and the chromosomal aberrations in human lymphocytes were tested using four treatments: T1 (water); T2 (20 g/L of broom); T3 (200 g/L of broom) and T4 (paracetamol at 400 mg/L). Both procedures were analyzed using the Mann-Whitney U test. This study provided evidence of a mutagenic effect of the tea in vegetable cells (Allium cepa) and in cultivated human cells. In tests T2 and T3 there was a higher average than the other treatments. This study shows that the effect is dependent on the dose. It is therefore recommended that broom tea be consumed with moderation.

Avaliação da atividade mutagênica e antimutagênica da Aloe vera em teste de Allium cepa e teste de micronúcleo em linfócitos humanos binucleados / Evaluation mutagenic and antimutagenic activity of Aloe vera in Allium cepa test and micronucleus test in human binucleated lymphocytes

Algumas das substâncias presentes nos vegetais podem ter efeitos mutagênicos, enquanto outras podem atenuar ou anular estes efeitos. Estima-se que mais de 200 substâncias ativas façam parte do gel de Aloe vera, sendo que os polissacarídeos chegam a 30 por cento, e muitos dos benefícios terapêuticos, nutricionais e cosméticos são a eles atribuídos. O objetivo deste trabalho foi determinar o efeito mutagênico e antimutagênico da solução de Aloe vera, em teste de Allium cepa e teste de micronúcleos em linfócitos humanos binucleados. Para as soluções, as folhas de Aloe vera foram trituradas, filtradas e esterilizadas. O teste de Allium cepa foi constituído de oito tratamentos e o de linfócitos, de cinco (com quatro repetições). Observou-se que na dose usual, a solução de Aloe vera não foi mutagência para o sistema de teste vegetal e nem para o humano. Já na dose dez vezes mais concentrada provocou um efeito citotóxico e mutagênico em Allium cepa. Em células vegetais a solução foi antimutagênica apenas quando colocada depois do paracetamol, enquanto que nas células humanas, essa ação se manifestou quando a solução foi utilizada ao mesmo tempo com o paracetamol.

Some of the substances in plant may have mutagenic effects, while others may cancel or mitigate these effects. It is estimated that more than 200 active substances compose the gel of Aloe vera, and the polysaccharides increases in 30 percent, and many of the therapeutic benefits, nutrition and cosmetics are allocated to them. The objective of this study was to determine the mutagenic and antimutagenic effects of the Aloe vera solution in Allium cepa test and the micronuclei test in human binucleated lymphocytes. For solutions, the leaves of Aloe vera were crushed, filtered and sterilized. The Allium cepa test was composed of eight treatments, and the lymphocytes of five (with four repetitions). It was observed that at the usual dose, the solution of Aloe vera was not mutagenic for the plant test system and not for humans. At a dose ten times more concentrated caused a cytotoxic and mutagenic effect in Allium cepa. In plant cells the solution was antimutagenic only when placed after paracetamol, while in human cells, this action was manifested when the solution was used at the same time with paracetamol.

Community diagnosis of maternal exposure to risk factors for congenital defects.

OBJECTIVES: This paper describes a community diagnosis of maternal exposure to risk factors for congenital defects in the population of Pelotas, RS, Brazil (400000 inhabitants). The authors investigated biological and demographic factors (maternal age, alcohol ingestion and smoking), social and economic factors (family income and type of work), and welfare factors (prenatal care, illnesses during pregnancy, drug therapy, and vaccinations). These factors were matched up with the Decalogue for Prevention of Congenital Defects recommended by the Latin American Collaborative Study of Congenital Malformations. METHODS: Data were collected in a population-based study in which mothers were interviewed in the hospitals of Pelotas, RS, during 1995. On each day, the first 3 women to give birth were interviewed in every city hospital. The sample resulted in a total of 3219 interviewed women. RESULTS AND CONCLUSIONS: Low-income groups are most exposed. They present the following potential risk factors: (a). outside the ideal age range for pregnancy; (b). fewer prenatal care appointments; (c). no prevention against rubella through vaccinations, and (d). more cigarette smoking. In the high-income groups, the potential risk factors were: (a). drug therapy (more common) and (b). more women working outside the home. We did not find any difference among social classes concerning: (a). illnesses during pregnancy and (b). ingestion of alcohol. When a general risk score was used, this figure was higher in the group of women who were not within ideal age for pregnancy. However, there was no difference among social classes. This has led us to conclude that delayed childbearing is a global risk whereas each social class has its own risks.

Diagnóstico das condições de saúde bucal em portadores de paralisia cerebral do município de Pelotas, Rio Grande do Sul, Brasil / Oral health conditions diagnostic in cerebral palsy individuals of Pelotas, Rio Grande do Sul State, Brazil

Paralisia cerebral (PC) é uma lesão encefálica estática, definida como uma desordem não progressiva dos movimentos e postura. Está comumente associada com epilepsia e anormalidades da fala, audição, visão e retardo mental. Embora os portadores de paralisia cerebral necessitem de cuidados especiais na prevenção de problemas bucais, no contexto da assistência odontológica, as informações da literatura são contraditórias quanto à incidência de doenças bucais em pacientes com paralisia cerebral. A fim de determinar as condições de saúde bucal e fatores associados, realizou-se um levantamento epidemiológico em 41 crianças portadoras de paralisia cerebral. As variáveis avaliadas foram: aspectos socioeconômicos, fatores de risco para o desenvolvimento de doenças bucais, acesso a serviços odontológicos, índice de cárie, doença periodontal, presença de má oclusão e fluorose dentária. As crianças examinadas apresentaram índices elevados de alteração gengival e experiência de cárie, principalmente na dentição decídua, e má oclusão severa, fatores que indicam a necessidade de intervenção precoce, seja com programas educativos e preventivos como de assistência curativa. O estudo mostrou que, além da necessidade quantitativa de atendimento, também se faz necessário melhorar a qualidade das consultas desses pacientes.(AU)

Cerebral Palsy (CP) is an encephalic static lesion defined as a non-progressive disorder of movements and posture. It is usually associated with epilepsy, speaking, hearing and sight disorders and also mental retardation. Even though, people who have CP need special care for the prevention of factors linked to oral problems, in the odontological context, the literary information is contradictory when it comes to the incidence of oral diseases on patients who have cerebral palsy. In order to determine the oral health and associated factors conditions, an epidemiological research has been made in 41 children who have cerebral palsy. The variables taken into account were: social-economical aspects, risk factors for the development of oral diseases, access to odontological care, caries index, periodontal disease, malocclusion and dental fluorose. Children who were examined showed a higher level of gingivitis and caries experience, mainly on the primary dentition, and also severe malocclusions, factors that indicate the need of early intervention, whether with educational programs or healing assistance. The study has shown that, in addition to the quantitative necessity of care, it is also necessary to improve the quality of these patients' consultations.(AU)

Diagnóstico das condições de saúde bucal em portadores de paralisia cerebral do município de Pelotas, Rio Grande do Sul, Brasil / Oral health conditions diagnostic in cerebral palsy individuals of Pelotas, Rio Grande do Sul State, Brazil

Paralisia cerebral (PC) é uma lesão encefálica estática, definida como uma desordem não progressiva dos movimentos e postura. Está comumente associada com epilepsia e anormalidades da fala, audição, visão e retardo mental. Embora os portadores de paralisia cerebral necessitem de cuidados especiais na prevenção de problemas bucais, no contexto da assistência odontológica, as informações da literatura são contraditórias quanto à incidência de doenças bucais em pacientes com paralisia cerebral. A fim de determinar as condições de saúde bucal e fatores associados, realizou-se um levantamento epidemiológico em 41 crianças portadoras de paralisia cerebral. As variáveis avaliadas foram: aspectos socioeconômicos, fatores de risco para o desenvolvimento de doenças bucais, acesso a serviços odontológicos, índice de cárie, doença periodontal, presença de má oclusão e fluorose dentária. As crianças examinadas apresentaram índices elevados de alteração gengival e experiência de cárie, principalmente na dentição decídua, e má oclusão severa, fatores que indicam a necessidade de intervenção precoce, seja com programas educativos e preventivos como de assistência curativa. O estudo mostrou que, além da necessidade quantitativa de atendimento, também se faz necessário melhorar a qualidade das consultas desses pacientes.

Cerebral Palsy (CP) is an encephalic static lesion defined as a non-progressive disorder of movements and posture. It is usually associated with epilepsy, speaking, hearing and sight disorders and also mental retardation. Even though, people who have CP need special care for the prevention of factors linked to oral problems, in the odontological context, the literary information is contradictory when it comes to the incidence of oral diseases on patients who have cerebral palsy. In order to determine the oral health and associated factors conditions, an epidemiological research has been made in 41 children who have cerebral palsy. The variables taken into account were: social-economical aspects, risk factors for the development of oral diseases, access to odontological care, caries index, periodontal disease, malocclusion and dental fluorose. Children who were examined showed a higher level of gingivitis and caries experience, mainly on the primary dentition, and also severe malocclusions, factors that indicate the need of early intervention, whether with educational programs or healing assistance. The study has shown that, in addition to the quantitative necessity of care, it is also necessary to improve the quality of these patients' consultations.

Fisiopatologia da porfiria aguda intermitente / Acute intermittent porphyria pathophysiology

Porfirias são transtornos metabólicos de origem genética e caráter autossômico dominante ou recessivo que causam erros na rota da biossíntese das porfirinas e do grupo heme. Dentro desse grupo se destaca a porfiria aguda intermitente como sendo a mais comum entre os demais tipos de porfirias na maioria dos países, com incidência de aproximadamente 1 a 2/100.000 habitantes. Possui caráter autossômico dominante e prevalece no sexo feminino durante o período da menacme. É uma doença que tem como principais sintomas dor abdominal, náuseas, vômitos, alterações do hábito intestinal, taquicardia, febre, neuropatia periférica e distúrbios psiquiátricos. Diversos fatores podem desencadear uma crise, entre eles dieta hipocalórica e pobre em carboidratos, drogas porfirinogênicas, estresse e exercício físico extenuante. O diagnóstico precoce e tratamento adequado melhoram o prognóstico e evitam maiores complicações e a atuação do fisioterapeuta é importante na recuperação da funcionalidade corporal e na melhora da qualidade de vida do paciente. Este trabalho se baseou em uma ampla revisão bibliográfica, com base nos bancos de dados Pubmed, Lilacs e SciELO, acerca do conhecimento científico sobre porfiria aguda intermitente, bem como sua fisiopatologia, diagnóstico diferencial, prevenção, tratamento e recursos adjuvantes como a fisioterapia.

Aspectos patognomônicos da doença de Günther / Pathognomonic aspects of Günther?s disease

A doença de Günther ou porfiria eritropoiética congênita é uma desordem autossômica recessiva. Causada por um defeito na enzima uroporfirinogênio III sintase, leva a um acúmulo de isômeros não fisiológicos e patogênicos da porfirina. As manifestações clínicas da doença incluem eritrodontia, hipertricose, fragilidade óssea, complicações oculares, anemia hemolítica e fotossensibilidade extrema. Apesar da escassa literatura científica atualizada sobre a doença de Günther, realizou-se esta revisão bibliográfica com a finalidade de descrever pontos importantes da etiologia, diagnóstico, prognóstico, tratamento e prevenção dessa patologia. Foram consultadas as bases de dados Pubmed, Lilacs e SciELO determinando as buscas pelas palavras-chaves: porfiria eritropoiética, porfirias, porfiria cutânea tardia, porfiria variegata, porfiria hepatoeritropoiética e erros inatos do metabolismo. Pacientes com a doença de Günther podem apresentar as piores manifestações cutâneas de todas as porfirias, isso se dá devido ao aumento de porfirinas lipossolúveis que se depositam na pele. Na idade adulta os pacientes podem desenvolver osteólise severa, ressorção de falanges terminais, contraturas e outras deformidades. A deficiência de vitamina D, decorrente da não exposição ao sol, pode contribuir para tais anormalidades na estrutura do osso. Manifestações oculares incluem conjuntivite, blefarite, fotofobia, cataratas, perda de cílios e sobrancelhas e cicatriz na córnea, o que pode levar à cegueira. A doença de Günther apresenta uma variabilidade clínica considerável. Embora os tratamentos disponíveis sejam limitados, o prognóstico nem sempre é desfavorável.

Estudo da atividade mutagênica das plantas, Euphorbia milii Des Moulins e Ricinus communis L através do teste de Allium cepa / Mutagenic activity study of the plants Euphorbia milii and Ricinus communis L. through the Allium cepa test

O objetivo deste trabalho foi avaliar a mutagenicidade e o grau de toxicidade de duas plantas tóxicas, a "mamona" (Ricinus communis) e a "coroa-de-cristo" (Euphorbia milii), utilizando infusões das sementes de mamona e o látex da coroa-de-cristo, em células meristemáticas de Allium cepa. Foram analisados: o índice mitótico (IM), as anomalias do ciclo mitótico (ACM), anomalias interfásicas, (AI) e o total de anomalias (TA). As soluções testes foram preparadas em três concentrações: MT1 - 0,5 g/l, MT2 - 1,0 g/l, MT3 - 2,0 g/l, e MT4 como controle. Da coroa-de-cristo extraiu-se o látex e dissolveu-se em água destilada nas concentrações CT1 -0,5 ml/l, CT2 - 1,0 ml/l, CT3 - 2,0 ml/l, e CT4 controle. Os resultados constataram que somente a mamona aumentou a freqüência de anomalias do ciclo mitótico, assim como, as anomalias interfásicas, demonstrando, dessa forma, uma ação tóxica para o material genético, através do teste de Allium cepa.

The aim of this work was to evaluate the mutagenicity and the degree of toxicity of two toxic plants, "castor bean" (Ricinus communis) and the "crown-of-thorns" (Euphorbia milii), using infusions of the seeds of Ricinus communis and the latex of the Euphorbia milii, in meristematic cells of Allium cepa, which were analyzed: the mitotic index (IM), the interphasics anomalies (AI), the mitotic cycle anomalies (ACM), and the total of anomalies (TA). The solutions tests were prepared in three concentrations: MT1 - 0.5 g/l, MT2 - 1.0 g/l, MT3 -2.0 g/l, and MT4 as control. From the Euphorbia milii the latex was extracted and was diluted in distilled water in concentrations: CT1 - 0.5 ml/l, CT2 - 1.0 ml/l, CT3 - 2.0 ml/l, and CT4 as control. The results evidenced that Ricinus communis increased the frequency of mitotic cycle anomalies, as well, the interphasics anomalies, demonstrating, a toxic action for the genetic material, through the test of Allium cepa.

Monitoramento da ação genotóxica em trabalhadores de sapatarias através do teste de micronúcleos, Pelotas, Rio Grande do Sul / Monitoring the genotoxic action in shoe workers by micronucleus test, Pelotas, Rio Grande do Sul State

Neste trabalho, investigou-se a frequência de micronúcleos em células esfoliadas da mucosa bucal de trabalhadores de sapatarias, na cidade de Pelotas (RS). O estudo constou de 54 trabalhadores de sapatarias expostos à cola e solventes e 54 controles. Avaliou-se a incidência de células com micronúcleos(CMN), binucleadas(CBN), núcleos ligados(CNL) e total de anomalias(TA), em 2.000 células por indivíduo. Elaborou-se um banco de dados no programa SPSS "for Windows" pelo teste de Mann-Whitney U, p<0,05. A média de anomalias entre os sapateiros foi 8.69±6.49CMN; 8,85±4,92CBN; 5,78±4,78CNL; 23,31±10,01TA, e nos controles 4,00±61617; 5,05CMN; 4,63±61617; 4,35CBN; 4,76±61617; 5,00CNL; 13,39±61617; 9,43TA (p=0,0001; p=0,0001; p=0,144 e p=0,0001, respectivamente). Avaliou-se a influência da idade, sexo, tempo de trabalho, renda familiar, fumo, bebida alcoólica, doenças dermatológicas, oftalmológicas, respiratórias e sistema nervoso central (SNC) no número de anomalias celulares. Esses não influenciaram; apenas observou-se que, na faixa etária de 15 a 29, foi maior o número de CNL do que em 45 a 72 anos e no tempo de trabalho de 0,1 a 10 anos apresentou mais CMN do que as outras faixas.(AU)

In this paper it was investigated the micronuclei frequency in exfoliated oral mucosa cells in shoe shop workers in the city of Pelotas, RS. The study counted on 54 shoe workers exposed to glue and solvents and 54 controls. It was evaluated the incidence of cells with micronucleus (CMN), bi-nucleus (CBN), linked nucleus (CLN) and total amount of anomalies (TAA), in 2000 cells per person. A database was created in the SPSS "for Windows" software using the Mann-Whitney U, p<0.05 test. The average of anomalies among shoe workers was 8.69±6.49CMN; 8.85±4.92CBN; 5.78±4.78CNL; 23.31±10.01TA, in the controlled 4.00±5.05CMN; 4.63±4.35CBN; 4.76±5.00CNL; 13.39±9.43TA (p=0.0001; p=0.0001; p=0.144 and p=0.0001 respectively). It was also evaluated the age, gender, time of work, family income, smoke, alcohol beverages, the influence of dermatological, ophthalmological, respiratory and central nervous system (CNS) diseases in the number of cell anomalies. These items did not have any influence. It was only observed that among the age group of 15 to 29 years old the number of CNL was bigger than among the age group of 45 to 72. Among those with time of work of 0.1 and 10 years presented a higher CNM than in the other group range.(AU)