A Frameshift Variant of GluN2A Identified in an Epilepsy Patient Results in NMDA Receptor Mistargeting.

N-methyl-D-aspartate receptors (NMDARs) are crucial for neuronal development and synaptic plasticity. Dysfunction of NMDARs is associated with multiple neurodevelopmental disorders, including epilepsy, autism spectrum disorder, and intellectual disability. Understanding the impact of genetic variants of NMDAR subunits can shed light on the mechanisms of disease. Here, we characterized the functional implications of a de novo mutation of the GluN2A subunit (P1199Rfs*32) resulting in the truncation of the C-terminal domain. The variant was identified in a male patient with epileptic encephalopathy, multiple seizure types, severe aphasia, and neurobehavioral changes. Given the known role of the CTD in NMDAR trafficking, we examined changes in receptor localization and abundance at the postsynaptic membrane using a combination of molecular assays in heterologous cells and rat primary neuronal cultures. We observed that the GluN2A P1199Rfs*32-containing receptors traffic efficiently to the postsynaptic membrane but have increased extra-synaptic expression relative to WT GluN2A-containing NMDARs. Using in silico predictions, we hypothesized that the mutant would lose all PDZ interactions, except for the recycling protein Scribble1. Indeed, we observed impaired binding to the scaffolding protein postsynaptic protein-95 (PSD-95); however, we found the mutant interacts with Scribble1, which facilitates the recycling of both the mutant and the WT GluN2A. Finally, we found that neurons expressing GluN2A P1199Rfs*32 have fewer synapses and decreased spine density, indicating compromised synaptic transmission in these neurons. Overall, our data show that GluN2A P1199Rfs*32 is a loss-of-function variant with altered membrane localization in neurons and provide mechanistic insight into disease etiology.

Karyotypic diversity among three species of the genus Astyanax (Characiformes: Characidae) / Diversidade Cariotípica entre três espécies do gênero Astyanax (Characiformes, Characidae)

Abstract The group Incertae sedis within the Characidae family currently includes 88 genera, previously included in the subfamily Tetragonopterinae. Among them is the genus Astyanax comprising a group of species with similar morphology and widely distributed in the Neotropics. Thus, the present study aimed to analyze the karyotype diversity in Astyanax species from different watersheds by conventional Giemsa staining, C-banding and fluorescence in situ hybridization (FISH rDNA 18S) probe.specimens of Astyanax aff. paranae belonging to the “scabripinnis complex”, Astyanax asunsionensis and Astyanax aff. bimaculatus were analyzed”. Two sympatric karyomorphs were observed in Astyanax.aff paranae, one of them having2n=48andthe other one with 2n=50 chromosomes. Other population of this same species also presented 2n=50 chromosomes, but differing in the karyotype formula and with macro supernumerary chromosome found in 100% of the cells in about 80%of females analyzed. Two population of A. asuncionensis and one population of Astyanax. aff. bimaculatus, also showed a diploid number of 50 chromosomes, but also differing in their karyotype formulas. Therefore, A. asuncionensis was also characterized by intraspecific chromosome diversity. The C-banding analysis was able to demonstrate a distinctable to demonstrate a distinct pattern of heterochromatin differing A. asuncionensis from Astyanax aff. paranae and Astyanax aff. bimaculatus. The supernumerary chromosome of Astyanax aff. paranae proved completely heterochromatic. Only Astyanax.aff. bimaculatus multiple showed multiple sites of nucleolar organizing regions. The other species were characterized by having a simple system of NOR. These data contributes to the know ledge of the existing biodiversity in our fish fauna, here highlighted by the inter- and intraspecific chromosomal diversity in the genus Astyanax.

Resumo O grupo Incertae sedis, dentro da família Characidae inclui atualmente 88 gêneros, anteriormente incluídos na subfamília Tetragonopterinae. Dentre eles encontra-se o gênero Astyanax que compreende um grupo de espécies com morfologia similar e com ampla distribuição na região Neotropical. Assim, o presente estudo teve como objetivo analisar a diversidade cariotípica em espécies de Astyanax de diferentes bacias hidrográficas, através da coloração convencional com Giemsa, bandeamento C e hibridização fluorescente in situ (FISH com rDNA 18S). Exemplares de Astyanax aff. paranae, pertencentes ao “complexo scabripinnis”; Astyanax asunsionensise Astyanax aff. bimaculatus foram analisados. Dois cariomorfos foram observados em A. aff. paranae, um deles com 2n=48 cromossomos e outro com 2n=50 cromossomos. Outra população apresentou 2n=50 cromossomos, ambas diferindo na fórmula cariotípica e um cromossomo supranumerário encontrado em 100% das células, em aproximadamente 80% das fêmeas analisadas. Populações de A.asunsionensis e uma população de Astyanax aff. Bimaculatus também mostraram número diplóide de 50 cromossomos, mas diferindo em suas fórmulas cariotípicas. Portanto, A. asuncionensis foi também caracterizado por uma diversidade cariotípica intraespecífica. As análises de bandeamento C foi capaz de demonstrar um padrão distinto de heterocromatina, diferindo A. asuncionensis de A.aff. paranae e A. aff. bimaculatus. O cromossomo supranumerário de Astyanax aff. paranae mostrou-se completamente heterocromático. Apenas Astyanax aff. bimaculatus mostrou múltiplos sítios de regiões organizadoras de nucléolo(NORs). As outras espécies foram caraterizadas por apresentar um sistema simples de NOR. Estes dados contribuem para o conhecimento da existência de biodiversidade em nossa fauna de peixes, aqui em destaque pela diversidade cromossômica inter e intraespecífica no gênero Astyanax.

Karyotypic diversity among three species of the genus Astyanax (Characiformes: Characidae).

The group Incertae sedis within the Characidae family currently includes 88 genera, previously included in the subfamily Tetragonopterinae. Among them is the genus Astyanax comprising a group of species with similar morphology and widely distributed in the Neotropics. Thus, the present study aimed to analyze the karyotype diversity in Astyanax species from different watersheds by conventional Giemsa staining, C-banding and fluorescence in situ hybridization (FISH rDNA 18S) probe.specimens of Astyanax aff. paranae belonging to the "scabripinnis complex", Astyanax asunsionensis and Astyanax aff. bimaculatus were analyzed". Two sympatric karyomorphs were observed in Astyanax.aff paranae, one of them having2n=48andthe other one with 2n=50 chromosomes. Other population of this same species also presented 2n=50 chromosomes, but differing in the karyotype formula and with macro supernumerary chromosome found in 100% of the cells in about 80%of females analyzed. Two population of A. asuncionensis and one population of Astyanax. aff. bimaculatus, also showed a diploid number of 50 chromosomes, but also differing in their karyotype formulas. Therefore, A. asuncionensis was also characterized by intraspecific chromosome diversity. The C-banding analysis was able to demonstrate a distinctable to demonstrate a distinct pattern of heterochromatin differing A. asuncionensis from Astyanax aff. paranae and Astyanax aff. bimaculatus. The supernumerary chromosome of Astyanax aff. paranae proved completely heterochromatic. Only Astyanax.aff. bimaculatus multiple showed multiple sites of nucleolar organizing regions. The other species were characterized by having a simple system of NOR. These data contributes to the know ledge of the existing biodiversity in our fish fauna, here highlighted by the inter- and intraspecific chromosomal diversity in the genus Astyanax.

Polymorphisms of the nucleolus organizing regions in Loricaria cataphracta (Siluriformes, Loricariidae) of the upper Paraguay River basin indicate an association with transposable elements.

A cytogenetic analysis of Loricaria cataphracta revealed a diploid number of 2n = 64 chromosomes, distributed as 12 metacentric + 8 submetacentric + 2 subtelocentric + 42 acrocentric, with a fundamental number of 86. Analysis of the nucleolus organizing region (NOR) using silver nitrate impregnation and fluorescence in situ hybridization (18S rDNA probe) techniques showed intra-population chromosomal polymorphism that could be classified into five different patterns (I to V), involving four pairs of chromosomes (8, 9, 12, and 13). In pattern I, the NOR was located in pair 12, whereas in pattern II, the NOR was detected in pair 8; these two patterns were characterized as a simple-NOR system. A multiple NOR system was evident in the other patterns (III, IV, and V). In pattern III, the NOR was located in only one of the homologs of pairs 12 and 8, and in patterns IV and V, the NOR was observed in pair 12 and in only one of the homologs of pairs 9 and 13, respectively. In addition, C-band analysis also showed this pattern of variation, and characterized a polymorphism in relation to the constitutive heterochromatin; the composition of this region was GC-rich (positive CMA3) and 4',6-diamidino-2-phenylindole negative. Transposition of NOR sites for mobile elements is suggested to explain this polymorphism.

Respostas fisiológicas e de desempenho de leitões suplementados com B-glucanos e desafiados imunologicamente / Phisiologial responses and growth performance of immune challenged piglets supplemented with B-glucans

O estudo buscou avaliar as respostas fisiológicas e de desempenho à adição de diferentes níveis de β-glucanos na dieta de leitões recém-desmamados. Foram utilizados 30 machos de linhagem comercial, com 34 dias de idade e peso de 10,9±0,63kg, alojados em gaiolas individuais, durante 14 dias. Os tratamentos variaram somente nos níveis de β-glucanos que foram de 35, 70, 140 e 280g/T. No final desse período, em metade dos animais foram injetados 2,7mg de lipopolissacarídeo (LPS) em 1mL de solução (PBS)/leitão, e nos demais 1mL/leitão de PBS. Foram avaliadas temperatura retal (TR), frequência respiratória (FR), perfil bioquímico sanguíneo e sinais clínicos aos 30, 90, 120 e 390 minutos seguintes à injeção. As respostas de desempenho não foram afetadas pelos níveis de β-glucanos. Foi observado o aumento de TR, tanto em função do LPS como em função da hora em que a temperatura foi medida. No entanto, os animais LPS-injetados, que receberam 280g/T de β-glucanos, tiveram a mesma TR daqueles LPS-não injetados. Os sinais clínicos foram compatíveis com um quadro de inflamação aguda e foram observados, nos animais LPS-injetados, vômito, prostração e diarreia, sendo que a inclusão de β-glucanos não conseguiu reverter esses sintomas. O uso de β-glucanos por 14 dias na dieta de leitões recém-desmamados mostrou um efeito anti-inflamatório em situação de desafio agudo. Para reverter o desafio imunológico utilizado, o nível de 280g/T de β-glucanos mostrou-se o mais recomendado.

This study was done to evaluate immunological responses and performance of weaning piglets receiving diets with different levels of β-glucans. Thirty males from a commercial line with 34 days of age and 10.9±0,6kg initial weight were housed in individual metabolic cages during 14 days. The treatments only differed in β-glucans levels: 35; 70; 140 and 280g/T. On the 14th day, half of the pigs were inoculated with 2.7mg LPS (lipopolysaccharide)/mL of solution (PBS)/pig and the other half received 1mL PBS/pig. Rectal temperature (RT), respiratory frequency (RF), biochemical profile and animal behavior (120 and 390 minutes after LPS inoculation) were evaluated. As the experiment was conducted, performance was not affected by β-glucans. An RT increase was observed due to LPS and time of temperature measurement. LPS-injected animals receiving 280g/T of β-glucans had the same RT as the LPS- non injected group. Clinical signs were near the expectation for acute inflammation. LPS-injected presented prostration, diarrhea and vomit and the β-glucans did not reverse this situation. The use of β-glucans in weaning pigs for fourteen days showed an anti-inflammatory action. To revert the immunologic challenge, the level of 280g/T of β-glucans was the most recommended.

Respostas fisiológicas e de desempenho de leitões suplementados com B-glucanos e desafiados imunologicamente / Phisiologial responses and growth performance of immune challenged piglets supplemented with B-glucans

O estudo buscou avaliar as respostas fisiológicas e de desempenho à adição de diferentes níveis de β-glucanos na dieta de leitões recém-desmamados. Foram utilizados 30 machos de linhagem comercial, com 34 dias de idade e peso de 10,9±0,63kg, alojados em gaiolas individuais, durante 14 dias. Os tratamentos variaram somente nos níveis de β-glucanos que foram de 35, 70, 140 e 280g/T. No final desse período, em metade dos animais foram injetados 2,7mg de lipopolissacarídeo (LPS) em 1mL de solução (PBS)/leitão, e nos demais 1mL/leitão de PBS. Foram avaliadas temperatura retal (TR), frequência respiratória (FR), perfil bioquímico sanguíneo e sinais clínicos aos 30, 90, 120 e 390 minutos seguintes à injeção. As respostas de desempenho não foram afetadas pelos níveis de β-glucanos. Foi observado o aumento de TR, tanto em função do LPS como em função da hora em que a temperatura foi medida. No entanto, os animais LPS-injetados, que receberam 280g/T de β-glucanos, tiveram a mesma TR daqueles LPS-não injetados. Os sinais clínicos foram compatíveis com um quadro de inflamação aguda e foram observados, nos animais LPS-injetados, vômito, prostração e diarreia, sendo que a inclusão de β-glucanos não conseguiu reverter esses sintomas. O uso de β-glucanos por 14 dias na dieta de leitões recém-desmamados mostrou um efeito anti-inflamatório em situação de desafio agudo. Para reverter o desafio imunológico utilizado, o nível de 280g/T de β-glucanos mostrou-se o mais recomendado.

This study was done to evaluate immunological responses and performance of weaning piglets receiving diets with different levels of β-glucans. Thirty males from a commercial line with 34 days of age and 10.9±0,6kg initial weight were housed in individual metabolic cages during 14 days. The treatments only differed in β-glucans levels: 35; 70; 140 and 280g/T. On the 14th day, half of the pigs were inoculated with 2.7mg LPS (lipopolysaccharide)/mL of solution (PBS)/pig and the other half received 1mL PBS/pig. Rectal temperature (RT), respiratory frequency (RF), biochemical profile and animal behavior (120 and 390 minutes after LPS inoculation) were evaluated. As the experiment was conducted, performance was not affected by β-glucans. An RT increase was observed due to LPS and time of temperature measurement. LPS-injected animals receiving 280g/T of β-glucans had the same RT as the LPS- non injected group. Clinical signs were near the expectation for acute inflammation. LPS-injected presented prostration, diarrhea and vomit and the β-glucans did not reverse this situation. The use of β-glucans in weaning pigs for fourteen days showed an anti-inflammatory action. To revert the immunologic challenge, the level of 280g/T of β-glucans was the most recommended.

Activity of epiisopiloturine against Schistosoma mansoni.

Schistosomiasis, caused by blood flukes of the genus Schistosoma, still imposes a considerable public health burden on large parts of the world. The control of this disease depends almost exclusively on the drug praziquantel, and there are no alternative drugs in sight. Natural compounds have recently attracted significant attention due to their relevance to parasitic infection and potential development into new therapeutic agents. Epiisopiloturine is an imidazole alkaloid isolated from the leaves of Pilocarpus microphyllus (Rutaceae), a native plant from Brazil. Here, we report the in vitro effect of this drug on the survival time of Schistosoma mansoni of different ages, such as 3 h old and 1, 3, 5, and 7 days old schistosomula, 49-day-old adults, and on egg output by adult worms. Epiisopiloturine at a concentration of 300 µg/mL caused the death of all schistosomula within 120 h. Extensive tegumental alterations and death were observed when adult schistosomes had been exposed to 150 µg/mL of the epiisopiloturine. At the highest sub-lethal dose of alkaloid (100 µg/mL), a 100% reduction in egg laying of paired adult worms was observed. Additionally, epiisopiloturine showed selective antischistosomal activity and exhibited no cytotoxicity to mammalian cells. This report provides the first evidence that epiisopiloturine is able to kill S. mansoni of different ages and inhibit worm egg laying.

Avaliação da composição e qualidade físico-química do leite pasteurizado padronizado comercializado na cidade de São Luís, MA / Evaluation of the composition and physical and chemical quality of standardized pasteurized milk marketed in the city of São Luís, MA, Brazil

Objetivou-se com este estudo avaliar a composição e a qualidade físico-química do leite pasteurizado padronizado comercializado na Cidade de São Luis, MA, verificar se estavam dentro dos padrões estabelecidos pela Instrução Normativa nº 51 do Ministério da Agricultura, Pecuária e Abastecimento e observar a ocorrência de fraudes econômicas como adição de água, através da densidade e crioscopia. Foram coletadas 20 amostras de leite pasteurizado padronizado durante o mês de maio de 2009, no comércio local da cidade. Foram realizadas análises de acidez, densidade, índice crioscópico, EST, ESD, proteína, gordura, cinzas, prova de peroxidase e fosfatase alcalina. Das 20 amostras analisadas, verificou-se que a densidade variou de 1,020 a 1,027 g/mL; a acidez de 10 a 14ºD; a gordura de 2,5 a 3,8%; o EST de 8,6 a 11,36%; ESD 6,1 a 7,86%; crioscopia 0,414 a 0,505ºC; proteínas de 2,4 a 3,32% e cinzas de 0,49 a 0,95%, a % de água adicionada variou de 1,27 a 17,83%. Todas as amostras apresentaram fosfatase negativa e peroxidase positiva. Com relação aos resultados obtidos, pode-se concluir que se apresentaram de forma geral insatisfatórios, evidenciando, principalmente, fraude do produto. Portanto, torna-se necessária a adoção de medidas de fiscalização por parte das autoridades competentes e maior conscientização das indústrias e consumidores.

The objective of this study to evaluate the composition and physico-chemical quality of standardized pasteurized milk marketed in São Luis, MA, Brazil, verify whether it was within the standards established by Instruction No. 51 of the Ministry of Agriculture, Livestock and Supply, and observe the occurrence of any economic fraud such as adding water, by measuring the density and freezing point. We collected 20 samples of standardized pasteurized milk during the month of May 2009, at a local town market. These were analyzed for acidity, density, cryoscopy, TS, SNF, protein, fat, ash, proof of peroxidase and alkaline phosphatase. Of the 20 samples analyzed, it was found that the density ranged from 1.020 to 1.027 g/mL; acidity from 10 to 14°D; fat from 2.5 to 3.8%; TS 8.6 to 11.36%; SNF 6.1 to 7.86%; freezing point 0.414 to 0.505°C; proteins from 2.4 to 3.32%; ash 0.49 to 0.95%; while the percentage of water added ranged from 1.27 to 17.83%. All samples were phosphatase negative and peroxidase positive. Regarding the results obtained, we can conclude that they were generally poor, showing mainly product fraud. Therefore, it is necessary to adopt measures for control by the relevant authorities and to raise awareness within the industries and among consumers.

[Thoracic splenosis]. / Esplenose Torácica.

Thoracic splenosis is a rare clinical condition consisting in the heterotopic autotransplantation of pieces of splenic tissue into the chest, following a previous trauma, with spleen and diaphragm laceration. In this paper, the authors report the clinical case of a thoracic splenosis in a 26 years old male, who had suffered a severe thoraco-abdominal trauma in childhood, leading to an emergency splenectomy. The patient, with the previous diagnosis of malignancy, namely pleural fibrotic tumors, underwent surgical management for removal of some nodular tumors of the pleura. Pathological studies confirmed the diagnosis of thoracic splenosis. The clinical diagnosis of thoracic splenosis should be suspicious facing asymptomatic patients, with a history of previous thoraco-abdominal trauma and nodular peripheral tumors in the chest x-rays.

Virulence markers and serotypes of Shiga toxin-producing Escherichia coli, isolated from cattle in Rio Grande do Sul, Brazil.

AIMS: To determine the prevalence of Shiga toxin-producing Escherichia coli (STEC) and serotypes and virulence markers of the STEC isolates from beef and dairy cattle in Rio Grande do Sul, Brazil. METHODS AND RESULTS: Faecal samples from beef cattle were collected at slaughterhouses. The isolates were submitted to colony hybridization assay with specific DNA probes for stx1, stx2 and eae genes, and serotyped for the identification of O and H antigens. Thirty-nine per cent of beef cattle surveyed harboured at least one STEC strain. Among the distinct serotypes identified, 10 were shared by both beef and dairy cattle. Most of the strains isolated harboured stx2. Genotypic and phenotypic profiles allowed the identification of 34 and 31 STEC strains, isolated from beef and dairy cattle, respectively. Serotypes O10:H14, O15:H21, O96:H21, O119:H4, O124:H11, O128:H21, O137:H-, O141:H19, O159:H42, O160:H2 and O177:H11, identified in this study, have not been previously reported as STEC isolated from cattle. CONCLUSIONS: Cattle are an important reservoir of STEC strains associated with human diseases in South America. SIGNIFICANCE AND IMPACT OF THE STUDY: Determining the prevalence, genotypic profile and serotypes of STEC strains isolated from cattle enables the prediction of possible risk for public health.

Effect of enamel preparation method on in vitro marginal microleakage of a flowable composite used as pit and fissure sealant.

OBJECTIVES: The aim of this in vitro study was to evaluate the microleakage in occlusal surfaces, after preparation with Er:YAG laser and compared to the diamond-bur conventional technique. METHODS: Thirty premolars were divided into three groups: I - high-speed handpiece + 37% phosphoric acid; II - Er:YAG laser (350 mJ, 4 Hz and 112 J/cm(2)) + 37% phosphoric acid; and III - Er:YAG laser (350 mJ, 4 Hz and 112 J/cm(2)) + Er:YAG laser (80 mJ, 4 Hz, and 25 mJ/cm(2)). All cavities received the same adhesive system and were restored with flowable composite according to manufacturer's instructions. Teeth were submitted to thermal cycling and immersed in 50% silver nitrate solutions for 8 h in total darkness. Specimens were sectioned longitudinally in the bucco-lingual direction, in slices of 1 mm thick. Each slice was immersed into photo developing solution and was photographed, and microleakage was scored from 0 to 7, by three calibrated examiners. RESULTS: A statistically significant difference (P < 0.0001) was observed between Er:YAG laser prepared and etched specimens and those in the other groups. CONCLUSIONS: It can be concluded that no significant difference was noted between the two types of enamel preparation when etching was performed. Preparing and treating the enamel surface exclusively by Er:YAG laser resulted in the highest degree of leakage.

Walker-Warburg syndrome. Report of two cases.

The purpose of this study is to describe two infants that were diagnosed with Walker-Warburg syndrome (WWS), a rare form of congenital muscular dystrophy (CMD). They were studied in their clinical, laboratory, and neuroradiologic features. The index case had a brain magnetic resonance imaging (MRI) and the second patient had a head computerized tomography (CT). In addition, a literature review was performed to describe the main forms of CMD. The index case fulfilled all criteria for WWS. A brain MRI performed at age 4 months served to corroborate the clinical diagnosis, showing severe hydrocephalus, type II lissencephaly, cerebellar vermian aplasia, and a hypoplastic brain stem. The authors were able to establish a retrospective diagnosis of WWS in the index case's older sister, based upon her clinical picture and head CT report.

Measurement of body composition changes during hemodialysis by bioimpedance analysis.

Monitoring of fluid exchanges during hemodialysis is essential for the safety and efficacy of the procedure. Bioimpedance analysis has been used for the measurement of body compartments in many settings, but experience during hemodialysis is relatively scare. In a prospective study of 28 cases of chronic renal failure treated by long-term hemodialysis on an outpatient basis, body composition studies were done immediately before and after the dialysis session. Methods included body weight, serum albumin, hematocrit, hemoglobin, sodium and osmolality. These variables were compared with impedance (BIA) findings, namely lean body mass, body fat, total water, extra and intra-cellular water, third space, and exchangeable sodium/potassium ratio. Patients lost weight and improved hematocrit, hemoglobin, osmolality and serum sodium during the therapy, and BIA measurements were consistent with these changes. Lean body mass and body fat markedly changed along the dialysis session (respectively -24.5% and + 7.5%), and these results were out of proportion regarding known gains and losses in that period. It is concluded that BIA was useful for monitoring water fluxes during hemodialysis, but provided unreliable information about body fat and lean body mass.

An improved method for butyrylcholinesterase phenotyping.

An improved method for the identification of butyrylcholinesterase phenotypes is proposed. It is based on modifications of a method that uses alpha-naphthyl acetate as substrate and DL-propranolol and Ro2-0683 as inhibitors. The proposed modifications make the method more rapid and increase the accuracy of the determinations of the phenotypes tested (BCHE U, BCHE UF, BCHE UA, BCHE AK, BCHE AF, and BCHE A). These modifications make the method even more adequate for population studies and clinical routine.

The C5 isozyme of serum cholinesterase and adult weight.

The relationship between the CHE2 locus of serum cholinesterase (BChE) and adult human weight was studied in a sample of 225 CHE2 C5+ individuals and 225 CHE2 C5- controls matched for sex, height, age and race. With respect to the intensity of the C5 band staining (scored 1-6), 113 individuals had faint C5 bands (scores 1-3) and 112 intense C5 bands (scores 4-6). The individuals with intense CHE2 C5+ phenotype showed a significantly lower mean adult weight (64.66 +/- 0.73 kg) when compared to their controls (70.59 +/- 0.97 kg) and a significant reduction in weight variance (59.81 and 105.18, respectively). Individuals with faint C5 bands, although showing a negative correlation between weight and C5 band intensity, did not differ from their controls in mean weight.

Frequency of the CHE1*K allele of serum cholinesterase in a sample from southern Brazil.

The frequency of the CHE1*K allele was estimated as 2.04 +/- 2.02% in a population sample from Southern Brazil. Previously reported estimates refer to the British population and are significantly higher than the present one. Our hypothesis is that the British frequencies may represent overestimates due to ascertainment conditions.