ABSTRACT Objectives: This review aims to study the role of the abdominal wall in testicular migration process during the human fetal period. Materials and Methods: We performed a descriptive review of the literature about the role of the abdominal wall in testicular migration during the human fetal period. Results: The rise in intra-abdominal pressure is a supporting factor for testicular migration. This process has two phases: the abdominal and the inguinal-scrotal stages. The passage of the testis through the inguinal canal occurs very quickly between 21 and 25 WPC. Bilateral cryptorchidism in Prune Belly syndrome is explained by the impaired contraction of the muscles of the abdominal wall; mechanical obstruction due to bladder distention and structural alteration of the inguinal canal, which hampers the passage of the testis during the inguinoscrotal stage of testicular migration. Abdominal wall defects as gastroschisis and omphaloceles are associated with undescended testes in around 30 to 40% of the cases. Conclusions: Abdominal pressure wound is an auxiliary force in testicular migration. Patients with abdominal wall defects are associated with undescendend testis in more than 30% of the cases probably due to mechanical factors; the Prune Belly Syndrome has anatomical changes in the anterior abdominal wall that hinder the increase of intra-abdominal pressure which could be the cause of cryptorchidism in this syndrome.

RESUMO Embora Salmonella Enteritidis (SE) seja capaz de metabolizar 1,2-propanodiol (1,2-Pd), utilizado como fonte de carbono e de energia ao longo de uma rota dependente de vitamina B12, a importância deste composto na infeção de Gallus gallus domesticus por SE permanece desconhecida. No presente estudo, foram construídos um mutante de SE sem os genes pduCDE, que codifica a propanodiol desidratase (Pdu), e outro contendo as deleções no pduCDE e também nos genes cobS e cbiA, responsáveis pela síntese de vitamina B12. Em seguida, avaliou-se a importância do metabolismo do 1,2-Pd em SE para colonização intestinal de infecção sistêmica de poedeiras comerciais. As estirpes mutantes de SE foram capazes de colonizar o intestino, de serem excretadas nas fezes e de invadir o baço e o fígado na mesma intensidade que a estirpe selvagem, o que sugere que os produtos dos genes pduC, pduD, pduE, cobS e cbiA não são essenciais durante infecção por Salmonella Enteritidis nessa espécie.

RESUMO Devido à ausência de estudos sobre capivaras na região Nordeste do Brasil, o objetivo deste estudo foi avaliar a sanidade desses roedores de vida livre em três áreas dos biomas Mata Atlântica (2) e Caatinga (1) do estado de Pernambuco, por meio da determinação de parâmetros da hematologia e bioquímica sérica. De novembro de 2016 a dezembro de 2017, foram capturados 21 animais, dos quais foram coletadas amostras de sangue para avaliação hematológica (eritrograma, leucograma e plaquetometria) e bioquímica sérica (atividade enzimática, perfil proteico, energético e mineral). A maioria dos parâmetros esteve dentro dos valores de normalidade para a espécie, embora alguns apresentassem diferenças estatisticamente significativas de acordo com a área de estudo (hemoglobina, hematócrito, VCM, CHCM, eosinófilos, fosfatase alcalina, proteína total, albumina, ácido úrico, creatinina, lactato, sódio e magnésio) e o sexo dos animais (ácido úrico). Os parâmetros obtidos são apresentados como referência e atestam a sanidade e o bom estado nutricional de populações de capivaras nos biomas Mata Atlântica e Caatinga da região Nordeste do Brasil. As informações aportadas neste estudo pioneiro na região Nordeste contribuem para aumentar o conhecimento sobre a ecofisiologia e a conservação in situ de capivaras.

ABSTRACT Due to the lack of studies about capybaras in the northeast region of Brazil, the objective of this study was to evaluate the health status of free-ranging capybaras in three areas of Atlantic Forest (2) and Caatinga (1) biomes in Pernambuco state, through the determination of hematological and serum biochemical parameters. From November 2016 to December 2017, 21 animals were captured and blood samples were collected for the hematological (erythrogram, leukogram and platelet counts) and serum biochemistry (enzymatic activity, protein, energy and mineral profile) evaluation. Hematological and serum biochemical parameters were within the normal range for the species, but some presented statistically significant variations according to the study area (hemoglobin, hematocrit, MCV, MCHC, eosinophils count, alkaline phosphatase, total proteins, albumin, uric acid, creatinine, lactate, sodium and magnesium) and sex of the animals (uric acid). The parameters obtained are presented as reference and attest to the health and good nutritional status of populations of capybaras in the Atlantic Forest and Caatinga biomes of northeastern Brazil. The information provided in this pioneering study in the northeast region contributes to increased knowledge about the ecophysiology and in situ conservation of capybaras.

RESUMO Objetivou-se avaliar a substituição parcial da silagem de capim elefante por torta de babaçu (Orbignya speciosa) sobre o desempenho, consumo, digestibilidade, composição química e ganho em peso de carcaça de ovinos. Cinquenta e quatro machos, castrados (19,08±2,76kg) foram distribuídos em delineamento inteiramente casualizado e administrado um dos seguintes tratamentos: 0.0, 12.5, 25.0, 37.5 e 50% (%MS) de substituição da silagem pela torta de babaçu. Não houve diferença (P> 0.05) na ingestão de matéria seca, proteína bruta e fibra em detergente neutro, porém o consumo de extrato etéreo aumentou (P< 0.05). A digestibilidade da matéria seca, fibra em detergente neutro e nutrientes digestíveis totais não foram alterados, no entanto, os coeficientes de digestibilidade da proteína bruta reduziu (P< 0.05) e do extrato etéreo aumentou (P< 0.05), com a substituição. Não houve alterações no ganho de peso médio diário e ganho de peso em carcaça. Nas carcaças, observou-se aumento linear na proporção do extrato etéreo, no entanto a porcentagem de proteína bruta diminuiu. O aumento no extrato etéreo da carcaça mostrou uma tendência linear. A substituição da silagem pela torta de babaçu em até 50% não alterou o desempenho de ovinos, porém levou a aumento na deposição de gordura na carcaça.

ABSTRACT The objective of this study was to evaluate the effect of the partial replacement of elephant grass silage with babassu (Orbignya speciosa) on the performance, intake, digestibility, and carcass weight gain of sheep. Fifty-four castrated male lambs (19.08±2.76kg) were distributed in a completely randomized design and administered one of the following treatments: 0.0, 12.5, 25.0, 37.5 or 50% dry matter (%DM) replacement of elephant grass silage with babassu cake. No difference (P> 0.05) was observed in the dry matter, crude protein, and neutral detergent fiber intake, but the ether extract intake increased (P< 0.05). The digestibility of the dry matter, neutral detergent fiber, and total digestible nutrients were unaffected. The crude protein digestibility decreased (P< 0.05), and the ether extract digestibility increased with the replacement of the elephant grass. There were no changes in mean daily weight gain and carcass weight gain. In the carcasses, a linear increase was observed in the proportion of the ether extract, and the crude protein decreased. The replacement of the silage with the babassu cake by up to 50% did not change the performance of sheep, however it led to an increase in fat deposit in the carcass.

RESUMO O objetivo deste estudo foi identificar e quantificar os fatores de produção presentes em granjas de crescimento e terminação (CT) de suínos, em um sistema cooperativo do estado do Paraná, Brasil, e determinar a influência desses fatores no consumo diário de ração (CDR) e na conversão alimentar (CA). Foram avaliados, entre os anos de 2010 e 2013, os históricos produtivos de 538 lotes de engorda, alojados em 175 granjas comerciais, totalizando aproximadamente 404.000 animais. Foram considerados 40 fatores de produção, relacionados ao manejo, à sanidade, às instalações e aos equipamentos, à nutrição, à genética e ao ambiente. Em baias com menos de 20 suínos, o CDR diminuiu (P<0,05) e a CA melhorou (P<0,01). Nas baias com comedouros basculantes (lineares), o CDR reduziu (P<0,01) e a CA melhorou (P=0,001). Em baias com lâmina d’água, o CDR aumentou (P<0,01) e a CA piorou (P<0,01). Lotes formados apenas por fêmeas apresentaram menor CDR (P<0,001) e melhor CA (P<0,001), quando comparados aos lotes mistos. As variáveis selecionadas para os modelos finais explicaram cerca de 25% e 46% da variância total para CDR e para a CA, respectivamente. Os modelos constituem um instrumento de auxílio efetivo para tomadas de decisões técnicas dentro do setor suinícola.

ABSTRACT The aim of this study was to identify and quantify the production factors present in growing and finishing (GF) pig farms partners of a cooperative in Paraná State, Brazil, and to determine the influence of these factors on daily feed intake (DFI) and the feed conversion ratio (FCR). From 2010 to 2013, the historical production of 538 batches of fattening pigs in 175 commercial farms were analyzed, in an amount approximately 404,000 animals. A total of 40 production factors regarding the management, sanity, plant and equipment, nutrition, genetics and environment were taken into consideration. Pens with less than 20 pigs resulted in a reduction in DFI (P<0.05) and an improved FCR (P<0.01). In pens that used linear dump feeders, the DFI was less (P<0.01) and the FCR was better (P=0.001). Pens with shallow pools had higher DFI (P<0.01) and worse FCR (P<0.01). Batches of females had lower DFI (P<0.001) and better FCR (P<0.001) compared to mixed-sex batches. The factors used for the final models explained the 25% and 46% of the total variance for the DFI and FCR, respectively. The models consist in effective aid instruments for technical decision making in the swine industry.

Genetic and functional aberrations of guanine nucleotide-binding protein, alpha stimulating (GNAS), aryl hydrocarbon receptor interacting protein (AIP), and pituitary tumor transforming gene (PTTG) are among the most prominent events in pituitary tumorigenesis. A cohort of Brazilian patients with somatotropinomas (n=41) and non-functioning pituitary adenomas (NFPA, n=21) from a single tertiary-referral center were evaluated for GNAS and AIP mutations and gene expression of AIP and PTTG. Results were compared to the clinical and biological (Ki67 and p53 expression) characteristics of tumors and their response to therapy, if applicable. Genetic analysis revealed that 27% of somatotropinomas and 4.8% of NFPA harbored GNAS mutations (P=0.05). However, no differences were observed in clinical characteristics, tumor extension, response to somatostatin analog therapy, hormonal/surgical remission rates, Ki67 index, and p53 expression between mutated and non-mutated somatotropinomas patients. PTTG overexpression (RQ mean=10.6, min=4.39, max=11.9) and AIP underexpression (RQ mean=0.56, min=0.46-max=0.92) were found in virtually all cases without a statistically significant relationship with clinical and biological tumor features. No patients exhibited somatic or germline pathogenic AIP mutations. In conclusion, mutations in GNAS and abnormal PTTG and AIP expression had no impact on tumor features and treatment outcomes in this cohort. Our data support some previous studies and point to the need for further investigations, probably involving epigenetic and transcriptome analysis, to improve our understanding of pituitary tumor behavior.

Primordial follicles, the main source of oocytes in the ovary, are essential for the maintenance of fertility throughout the reproductive lifespan. To the best of our knowledge, there are no reports describing the effect of anethole on this important ovarian follicle population. The aim of the study was to investigate the effect of different anethole concentrations on the in vitro culture of caprine preantral follicles enclosed in ovarian tissue. Randomized ovarian fragments were fixed immediately (non-cultured treatment) or distributed into five treatments: α-MEM+ (cultured control), α-MEM+ supplemented with ascorbic acid at 50 μg/mL (AA), and anethole at 30 (AN30), 300 (AN300), or 2000 µg/mL (AN2000), for 1 or 7 days. After 7 days of culture, a significantly higher percentage of morphologically normal follicles was observed when anethole at 2000 μg/mL was used. For both culture times, a greater percentage of growing follicles was observed with the AN30 treatment compared to AA and AN2000 treatments. Anethole at 30 and 2000 µg/mL concentrations at days 1 and 7 of culture resulted in significantly larger follicular diameter than in the cultured control treatment. Anethole at 30 µg/mL concentration at day 7 showed significantly greater oocyte diameter than the other treatments, except when compared to the AN2000 treatment. At day 7 of culture, levels of reactive oxygen species (ROS) were significantly lower in the AN30 treatment than the other treatments. In conclusion, supplementation of culture medium with anethole improves survival and early follicle development at different concentrations in the caprine species.

RESUMO Objetivou-se avaliar os efeitos do ganho compensatório associado ao uso de 10ppm de ractopamina após um período de restrição alimentar, em suínos em terminação, sobre características de desempenho, carcaça e qualidade de carne. Foram utilizados 20 machos castrados e 20 fêmeas, com 110 dias de idade e 66,137±6,13kg de peso vivo, submetidos a quatro tratamentos, fatorial 2 x 2 (alimentação à vontade ou com 20% de restrição entre zero e 21 dias de experimentação; e alimentação à vontade, sem ou com 10ppm de ractopamina, durante 22 a 42 dias de experimentação), com 10 repetições, sendo o animal a repetição. Não houve interação entre os fatores para nenhum dos parâmetros avaliados. Animais tratados com ractopamina apresentaram melhor ganho de peso (1,083 versus 1,259kg), conversão alimentar (2,910 versus 2,577), peso da carcaça quente e fria (86,08 versus 89,00 e 83,46 versus 87,20kg, respectivamente), profundidade do lombo (63,02 versus 68,40mm), área de olho de lombo (41,43 versus 46,59mm2) e diâmetro de fibras musculares (27,48 versus 35,85µm). Animais submetidos à restrição alimentar seguida de arraçoamento ad libitum apresentaram ganho compensatório sem prejuízos às características de carcaça e à carne, mas com redução do extrato etéreo (2,19 versus 1,64%) e menor perda de água por descongelamento na carne (11,35 versus 9,42%) Os efeitos do ganho compensatório após a restrição alimentar e da ractopamina mostram-se independentes sobre os parâmetros avaliados.

ABSTRACT The objective of this study was to evaluate the effects of compensatory gain associated with the use of 10ppm ractopamine after a period of feed restriction in finishing pigs on performance, carcass and meat quality. Twenty castrated males and 20 females, at 110 days of age and 66.137±6.13kg live weight, were submitted to four treatments using a 2 x 2 factorial design (fed ad libitum or with 20% restriction between 0(21 days of age and fed with or without 10ppm ractopamine for 22(42 days of experimentation), with 10 replicates (animals). There was no interaction between the factors for any of the evaluated parameters. Animals treated with ractopamine presented better weight gain (1.083 versus 1.259kg), feed conversion (2.910 versus 2.577), warm and cold carcass weight (86.08 versus 89.00 and 83.46 versus 87.20kg, respectively), loin depth (63.02 versus 68.40mm), loin eye area (41.43 versus 46.59mm2) and muscle fiber diameter (27.48 versus 35.85μm). Animals submitted to feed restriction followed by ad libitum feed presented compensatory gain without losses to carcass and meat characteristics, but with a reduction in the ethereal extract (2.19 versus 1.64%) and lower water loss due to thawing in the meat (11.35 versus 9.42%). The effects of compensatory gain after food restriction and ractopamine are independent of the parameters evaluated.

ABSTRACT We measured variation and covariation in wing morphology in six populations of the fly Polietina orbitalis (Stein) (Diptera: Muscidae) to test for geographic morphological structure. Additionally, we examined the role of environmental variables in determining geographic variation in wing shape. We sampled five populations in the state of Paraná, southern Brazil (Colombo, Fênix, Guarapuava, Jundiaí do Sul and Ponta Grossa), and one in Paraguay (Mbaracayú). We choose 15 landmarks to describe the wing shape and size and 19 environmental variables to describe the local environmental conditions. Our results showed that P. orbitalis wing shape, but not size, varies geographically. A canonical variate analysis showed the existence of two clusters of populations based on wing shape. These groups compare populations in which the wing is slender with groups in which the wings are broad. These shape differences were correlated with variation in elevation, precipitation and temperature but were not allometric. Taken together, these results suggest that wing shape differences in P. orbitalis populations are due to a plastic response to local environmental conditions.

OBJETIVO: Determinar marcadores bioquímicos da síndrome metabólica em pacientes com PKU. MÉTODOS: Foram avaliados dois grupos de pacientes com PKU, de quatro a 15 anos, com excesso de peso (29) e eutróficos (29). As variáveis bioquímicas avaliadas foram fenilalanina (phe), colesterol total, HDL-c, triglicérides, glicose e insulina basal. Foi determinado o Homa e mensurada a circunferência da cintura. RESULTADOS: As concentrações de phe, de colesterol total e de glicose foram equivalentes entre os grupos. Os pacientes com excesso de peso apresentaram maiores concentrações de triglicérides, de insulina basal, maiores valores da determinação do Homa, menores concentrações de HDL colesterol e valores mais elevados da relação do colesterol total/HDL-c. Houve correlação positiva entre a dosagem de insulina basal e do Homa com a circunferência da cintura nos pacientes do grupo com excesso de peso. CONCLUSÕES: Os resultados deste estudo sugerem que pacientes com PKU e excesso de peso são potencialmente vulneráveis ao desenvolvimento da síndrome metabólica. Há, portanto, necessidade de acompanhamento clínico-laboratorial que previna as alterações metabólicas, o ganho excessivo de peso e as suas consequências, em especial o risco cardiovascular.

OBJECTIVE: This study aimed to identify markers of metabolic syndrome (MS) in patients with phenylketonuria (PKU). METHODS: This was a cross-sectional study consisting of 58 PKU patients (ages of 4-15 years): 29 patients with excess weight, and 29 with normal weight. The biochemical variables assessed were phenylalanine (phe), total cholesterol, HDL-c, triglycerides, glucose, and basal insulin. The patients had Homeostasis Model Assessment (HOMA) and waist circumference assessed. RESULTS: No inter-group difference was found for phe. Overweight patients had higher levels of triglycerides, basal insulin, and HOMA, but lower concentrations of HDL-cholesterol, when compared to the eutrophic patients. Total cholesterol/HDL-c was significantly higher in the overweight group. A positive correlation between basal insulin level and HOMA with waist circumference was found only in the overweight group. CONCLUSION: The results of this study suggest that patients with PKU and excess weight are potentially vulnerable to the development of metabolic syndrome. Therefore, it is necessary to conduct clinical and laboratory monitoring, aiming to prevent metabolic changes, as well as excessive weight gain and its consequences, particularly cardiovascular risk.

Entre os herbicidas recomendados para a época seca e registrados para a cultura da cana-de-açúcar estão amicarbazone, isoxaflutole e a associação diuron + hexazinona + sulfometuronmetil. Esses herbicidas apresentam ação em pré-emergência e atuam em plantas daninhas de folha larga. Cordas-de-viola provocam grandes perdas em canaviais infestados, causando tombamento da cana e interferindo nas operações de colheita. Neste estudo foi avaliada a eficácia de controle de herbicidas pré-emergentes em duas espécies de corda-de-viola (Ipomoea hederifolia e Ipomoea grandifolia). Os tratamentos foram dispostos em esquema fatorial 4 x 7. Foram quatro períodos de restrição hídrica (0, 30, 60 e 90 dias), sete tratamentos químicos [diuron + hexazinona + sulfometuron-metil (1.387 + 391 + 33,35 g i.a. ha-1), diuron + hexazinona + sulfometuron-metil (1.507,5 + 425 + 36,25 g i.a. ha-1), diuron + hexazinona + sulfometuron-metil (1.658,25 + 467,5 + 39,87 g i.a. ha-1), diuron + hexazinona + sulfometuron-metil (1.809 + 510 + 43,5 g i.a. ha-1), amicarbazone (1.190 g i.a. ha-1) e amicarbazone + isoxaflutole (840 + 82,5 g i.a. ha-1)] e um controle sem aplicação. Após 7, 14, 21 e 28 dias do restabelecimento da umidade, foram realizadas avaliações visuais de controle. Depois da última avaliação, foi determinada a massa seca das cordas-de-viola. Após 90 dias de restrição hídrica, diuron + hexazinona + sulfometuron-metil controlou I. hederifolia de forma mais eficaz que a mistura de amicarbazone + isoxaflutole. As quatro doses de diuron + hexazinona + sulfometuron-metil reduziram a massa seca das cordas-de-viola a zero, o que não aconteceu com os tratamentos com amicarbazone. O tratamento mais eficaz para o controle de corda-de-viola foi diuron + hexazinona + sulfometuron-metil em todas as doses estudadas; esse resultado pode se dever a possíveis relações de sinergismo entre esses produtos.

Among the herbicides recommended for the dry season and registered to sugarcane crop, amicarbazone, isoxaflutole and the association diuron + hexazinone + sulfomethuron-methyl can be highlighted. These are pre-emergence herbicides efficient against broad-leaved weeds. Morning glory causes large losses in infested sugarcane fields by bending the stalks and interfering in harvesting. In this study the effectiveness of pre-emergence herbicides for two species of morning glory (Ipomoea hederifolia and Ipomoea grandifolia) was evaluated. Treatments were arranged in completely randomized factorial design (4 x 7). There were four periods of water restriction (0, 30, 60 and 90 days), seven chemical treatments [diuron + hexazinone + sulfometuron-methyl (1387 + 391 + 33.35 g a.i. ha-1), diuron + hexazinone + sulfometuron-methyl (1507.5 + 425 + 36.25 g a.i. ha-1), diuron + hexazinone + sulfometuron-methyl (1658.25 + 467.5 + 39.87 g a.i. ha-1), diuron + hexazinone + sulfometuronmethyl (1809 + 510 + 43.5 g a.i. ha-1), amicarbazone (1190 g a.i. ha-1), amicarbazone + isoxaflutole (840 + 82.5 g a.i. ha-1)] and a control with no application. At 7, 14, 21 and 28 days after the restoration of moisture, control was visually evaluated. After the final evaluation, the dry mass of morning glories was measured. At 90 days of water restriction, diuron + hexazinone + sulfometuron-methyl was more effective to control I. hederifolia than the amicarbazone + isoxaflutole tank mixture. The four diuron + hexazinone + sulfometuronmethyl doses have reduced morning glory dry mass to zero; whereas treatments with amicarbazone have not. The most effective treatment for morning glory control was diuron + hexazinone + sulfometuron-methyl. This result may be due to a possible synergistic interaction.

Didymella bryoniae, agente causal da podridão gomosa, é um importante patógeno em meloeiro nobre, em cultivo protegido e recentemente, resultados de alguns trabalhos têm evidenciado a ocorrência de infecção latente de D. bryoniae em meloeiro, sem, no entanto, registrar a comprovação. Objetivou-se com este trabalho constatar a ocorrência de infecção latente de D. bryoniae, em plantas dos híbridos de meloeiro nobre Sunrise, Bônus II e Prince Hakucho assintomáticas. Empregou-se a técnica de reação da polimerase em cadeia (PCR), com o conjunto de 'primers' D7S, D6 e UNLO28822, que amplificam regiões do DNA e distinguem D. bryoniae de outras espécies similares e de outros microrganismos comuns. Em todos os híbridos testados, constatou-se a presença de D. bryoniae no caule de plantas assintomáticas, através da amplificação das regiões específicas delimitadas pelos 'primers' utilizados.

The causal agent of gummy stem blight, Didymella bryoniae, is an important pathogen for Cucurbitaceae species and has been the main source of biotic and infectious damages to muskmelon under protected cultivation. Some recent studies have evidenced the occurrence of latent infections by D. bryoniae in melons, but without confirmation. Thus, the present study aimed to the occurrence of latent infection by Didymella bryoniae in asymptomatic plants of the muskmelon hybrids Sunrise, Bonus II and Prince Hakucho through polymerase chain reaction (PCR) using the set of primers D7S, D6 and UNLO28822, which amplify DNA regions capable of distinguishing D. bryoniae from other similar species and common microorganisms. In all tested hybrids, the presence of D. bryoniae was confirmed in the stems of asymptomatic plants through amplification of specific regions delimited by the employed primers.

É descrita e ilustrada uma nova espécie de Mezilaurus Taubert (Lauraceae): Mezilaurus vanderwerffii F.M. Alves & J.B. Baitello, caracterizada por folhas densamente dotadas de pontoações glandulares na face adaxial. A espécie é relatada para o Cerrado, Cerradão, e Floresta Estacional Semidecidual do entorno do Pantanal Matogrossense.

The species was named Mezilaurus vanderwerffii F.M. Alves & J.B. Baitello and is characterized by leaves with dense, glandular dots on the adaxial surface. The species is reported for Cerrado, Cerradão, and Semideciduous Forest surrounding the Pantanal Matogrossense.

Tem sido descrita na literatura a ocorrência de movimentos mioclônicos e distônicos como expressão isolada de uma condição neurológica de caráter hereditário. Para essa entidade alguns autores propõem a denominação "distonia mioclônica hereditária", enquanto outros preconizam o uso da expressão "mioclonia essencial hereditária". O presente relato refere-se a uma família em que essa peculiar associação de movimentos anormais acometia diversos membros em três gerações. O propósito é uma paciente de 14 anos com movimentos distônicos instalados aos 7 anos e mioclonias aos 13 anos, com evolução lenta e tendendo à estabilização. Não havia referência a melhora sob ação do álcool (paciente abstêmia). A história familiar mostrava outros casos semelhantes. A investigação complementar (dosagens sericas de cobre, ceruloplasmina, T3, T4, TSH; pesquisa de acantócitos; exame do LCR; tomografia e ressonância do segmento cefálico) não revelou anormalidades. O quadro foi satisfatoriamente controlado com clonazepam na dose de 3 mg/dia.

The occurrence of myoclonic and dystonic movements as an isolated expression of a neurologic condition of hereditary pattern have been scarcely described in literature. For this entity some authors proposed the denomination "hereditary myoclonic dystonia" while others prefer the use of the expression "hereditary essential myoclonus". We present a family in which this unusual association of abnormal movements affected several members in three generations. The propositus patient is a 14-year-old girl who have noticed the dystonic movements by 7 years of age and the myoclonic ones by 13 years of age, with a slow progression. There was no reference about the effect of alcohol (abstemious patient). There was a family history of similar cases. The suplementary investigation (seric dosage of cupper, ceruloplasmine, T3, T4, TSH; acanthocytes search; CSF examination; CT scan and MRI of the head) did not show any abnormality. Clonazepam was the only medication that lead to a clinical improvement, reducing both movements.