Expanding the differential diagnosis of inherited neuropathies with non-uniform conduction: Andermann syndrome

Uniform conduction slowing has been considered a characteristic of inherited demyelinating neuropathies. We present an 18-year-old girl, born from first cousins, that presented a late motor and psychological development, cerebellar ataxia, facial diplegia, abnormal eye movement, scoliosis, and corpus callosum agenesis, whose compound muscle action potentials were slowed and dispersed. A mutation was found on KCC3 gene, confirming Andermann syndrome, a disease that must be included in the differential diagnosis of inherited neuropathies with non-uniform conduction slowing.

Jacalin interaction with human immunoglobulin A1 and bovine immunoglobulin G1: Affinity constant determined by piezoelectric biosensoring

The affinity of the d-galactose-binding lectin from Artocarpus heterophyllus lectin, known as jacalin, with immonuglobulins (Igs) was determined by biofunctionalization of a piezoelectric transducer. This piezoelectric biofunctionalized transducer was used as a mass-sensitive analytical tool, allowing the real-time binding analysis of jacalin-human immunoglobulin A1 (IgA(1)) and jacalin-bovine IgG(1) interactions from which the apparent affinity constant was calculated. The strategy was centered in immobilizing jacalin on the gold electrode's surface of the piezoelectric crystal resonator using appropriate procedures based on self-assembling of 11-mercaptoundecanoic acid and 2-mercaptoethanol thiol's mixture, a particular immobilization strategy by which it was possible to avoid cross-interaction between the proteins over electrode's surface. The apparent affinity constants obtained between jacalin-human IgA(1) and jacalin-bovine IgG(1) differed by 1 order of magnitude [(8.0 +/- 0.9) x 10(5) vs (8.3 +/- 0.1) x 10(6) L mol(-1)]. On the other hand, the difference found between human IgA(1) and human IgA(2) interaction with jacalin, eight times higher for IgA(1), was attributed to the presence of O-linked glycans in the IgA(1) hinge region, which is absent in IgA(2). Specific interaction of jacalin with O-glycans, proved to be present in the human IgA(1) and hypothetically present in bovine IgG(1) structures, is discussed as responsible for the obtained affinity values.

Galactose Recognition by the Apicomplexan Parasite Toxoplasma gondii

Toxosplasma gondii is the model parasite of the phylum Apicomplexa, which contains numerous obligate intracellular parasites of medical and veterinary importance, including Eimeria, Sarcocystis, Cryptosporidium, Cyclospora, and Plasmodium species. Members of this phylum actively enter host cells by a multistep process with the help of microneme protein (MIC) complexes that play important roles in motility, host cell attachment, moving junction formation, and invasion. T. gondii (Tg)MIC1-4-6 complex is the most extensively investigated microneme complex, which contributes to host cell recognition and attachment via the action of TgMIC1, a sialic acid-binding adhesin. Here, we report the structure of TgMIC4 and reveal its carbohydrate-binding specificity to a variety of galactose-containing carbohydrate ligands. The lectin is composed of six apple domains in which the fifth domain displays a potent galactose-binding activity, and which is cleaved from the complex during parasite invasion. We propose that galactose recognition by TgMIC4 may compromise host protection from galectin-mediated activation of the host immune system.

BJcuL, a lectin purified from Bothrops jararacussu venom, induces apoptosis in human gastric carcinoma cells accompanied by inhibition of cell adhesion and actin cytoskeleton disassembly

We show that BJcuL, a lectin purified from Bothrops jararacussu venom, exerts cytotoxic effects to gastric carcinoma cells MKN45 and AGS. This effect was due to the direct interaction with specific glycans on the cells surface and was observed by cell viability decrease, disorganization of actin filaments and apoptosis. In addition, BJcuL was able to reduce tumor cell adhesion to matrigel, what was inhibited by specific carbohydrate or partially inhibited when cells were pre-incubated with matrigel. Our results suggest that BJcuL was able to promote apoptosis in both tumor cells lines and therefore has a prospect for potential use in cancer therapy. (C) 2011 Elsevier Ltd. All rights reserved.

miR-15a and 16-1 Are Downregulated in CD4(+) T Cells of Multiple Sclerosis Relapsing Patients

The pathology of relapsing-remitting multiple sclerosis (RR-MS) is largely attributed to activated autoreactive effector T lymphocytes. The influence of microRNAs on the immune response has been shown to occur in different pathways of lymphocyte differentiation and function. Here, the expression of the miRNAs miR-15a/161 in PBMC, CD4(+), and CD8(+) from RR-MS patients has been investigated. BCL2, a known miR-15a/16-1 target, has also been analyzed. The results have shown that miR-15a/16-1 is downregulated in CD4(+) T cells, whereas BCL2 is highly expressed in RR-MS patients only. Our data suggest that miR-15a/16-1 can also modulate the BCL2 gene expression in CD4(+) T cells from RR-MS patients, thereby affecting apoptosis processes.

Evidence for glycosylation on a DNA-binding protein of Salmonella enterica

Abstract Background All organisms living under aerobic atmosphere have powerful mechanisms that confer their macromolecules protection against oxygen reactive species. Microorganisms have developed biomolecule-protecting systems in response to starvation and/or oxidative stress, such as DNA biocrystallization with Dps (DNA-binding protein from starved cells). Dps is a protein that is produced in large amounts when the bacterial cell faces harm, which results in DNA protection. In this work, we evaluated the glycosylation in the Dps extracted from Salmonella enterica serovar Typhimurium. This Dps was purified from the crude extract as an 18-kDa protein, by means of affinity chromatography on an immobilized jacalin column. Results The N-terminal sequencing of the jacalin-bound protein revealed 100% identity with the Dps of S. enterica serovar Typhimurium. Methyl-alpha-galactopyranoside inhibited the binding of Dps to jacalin in an enzyme-linked lectin assay, suggesting that the carbohydrate recognition domain (CRD) of jacalin is involved in the interaction with Dps. Furthermore, monosaccharide compositional analysis showed that Dps contained mannose, glucose, and an unknown sugar residue. Finally, jacalin-binding Dps was detected in larger amounts during the bacterial earlier growth periods, whereas high detection of total Dps was verified throughout the bacterial growth period. Conclusion Taken together, these results indicate that Dps undergoes post-translational modifications in the pre- and early stationary phases of bacterial growth. There is also evidence that a small mannose-containing oligosaccharide is linked to this bacterial protein.

O uso da Classificação Internacional de Funcionalidade, Incapacidade e Saúde para acompanhamento de pacientes usuários de Implante Coclear.

Purpose: To characterize the profile of patients with cochlear implant as proposed by the International Classification of Functioning, Disability and Health for Children and Youth (ICF-CY). Methods: This is a descriptive, crosssectional retrospective study, which examined 30 medical records of patients using the cochlear implant of Centro de Pesquisas Audiológicas. To characterize the profile of the patients, the ICF-CY was used. Regarding the assessment, researchers relied on procedures performed in clinical routine, besides information registered in the medical record. After reviewing the information, it was related to codes from the ICF-CY; with the addition of a qualifier afterwards. Results: Overall, 55 codes from the ICF were related to the instruments to characterize this population. Regarding the Body Functions field, most participants did not have disabilities related to reception and expression of oral language and auditory functions, with only written language disabilities being found. These same findings were observed in the Activity and Participation Field. Regarding environmental factors, noise and the non-availability of technology resources to assist in the auditory comprehension of noise were characterized as a barrier, as well as the absence of speech therapy. Conclusion: This study concluded that most of the participating children showed no deficiency in the body functions, with difficulties being only reported in relation to school performance. Environmental factors (noise, non-availability of technological resources, absence of speech therapy) were characterized as a barrier. The need to expand assessments in the clinical routine was also noted.

Characterization and optimization of ArtinM lectin expression in Escherichia coli

Background ArtinM is a D-mannose-specific lectin from Artocarpus integrifolia seeds that induces neutrophil migration and activation, degranulation of mast cells, acceleration of wound healing, induction of interleukin-12 production by macrophages and dendritic cells, and protective T helper 1 immune response against Leishmania major, Leishmania amazonensis and Paracoccidioides brasiliensis infections. Considering the important biological properties of ArtinM and its therapeutic applicability, this study was designed to produce high-level expression of active recombinant ArtinM (rArtinM) in Escherichia coli system. Results The ArtinM coding region was inserted in pET29a(+) vector and expressed in E. coli BL21(DE3)-Codon Plus-RP. The conditions for overexpression of soluble ArtinM were optimized testing different parameters: temperatures (20, 25, 30 or 37°C) and shaking speeds (130, 200 or 220 rpm) during induction, concentrations of the induction agent IPTG (0.01-4 mM) and periods of induction (1-19 h). BL21-CodonPlus(DE3)-RP cells induced under the optimized conditions (incubation at 20°C, at a shaking speed of 130 rpm, induction with 0.4 mM IPTG for 19 h) resulted in the accumulation of large amounts of soluble rArtinM. The culture provided 22.4 mg/L of rArtinM, which activity was determined by its one-step purification through affinity chromatography on immobilized D-mannose and glycoarray analysis. Gel filtration showed that rArtinM is monomeric, contrasting with the tetrameric form of the plant native protein (jArtinM). The analysis of intact rArtinM by mass spectrometry revealed a 16,099.5 Da molecular mass, and the peptide mass fingerprint and esi-cid-ms/ms of amino acid sequences of peptides from a tryptic digest covered 41% of the total ArtinM amino acid sequence. In addition, circular dichroism and fluorescence spectroscopy of rArtinM indicated that its global fold comprises β-sheet structure. Conclusions Overall, the optimized process to express rArtinM in E. coli provided high amounts of soluble, correctly folded and active recombinant protein, compatible with large scale production of the lectin.

Common bile duct stones: analysis of the videolaparoscopic surgical treatment

CONTEXT: About 9% of the Brazilian population has gallstones and the incidence increases significantly with aging. The choledocholithiasis is found around 15% of these patients, and a third to half of these cases presented as asymptomatic. Once the lithiasis in the common bile duct is characterized through intraoperative cholangiography, the laparoscopic surgical exploration can be done through the transcystic way or directly through choledochotomy. OBJECTIVE: To evaluate the results and outcomes of the laparoscopic treatment of common bile duct lithiasis. METHODS: Seventy consecutive patients were evaluated. They prospectively underwent the treatment of the lithiasis in the common bile duct and the exploration ways were compared according to the following parameters: criteria on their indication, success in the clearance, surgical complications. It was verified that about ½ of the choledocholithiasis carriers did not show any expression of predictive factors (clinical antecedents of jaundice and/or acute pancreatitis, compatible sonographic data and the pertaining lab tests). The laparoscopic exploration through the transcystic way is favored when there are no criteria for the practice of primary choledochotomy, which are: lithiasis in the proximal bile duct, large (over 8 mm) or numerous calculi (multiple calculosis). RESULTS: The transcystic way was employed in about 50% of the casuistic and the choledochotomy in about 30%. A high success rate (around 80%) was achieved in the clearance of the common bile duct stones through laparoscopic exploration. The transcystic way, performed without fluoroscopy or choledochoscopy, attained a low rate of success (around 45%), being 10% of those by transpapilar pushing of calculi less than 3 mm. The exploration through choledochotomy, either primary or secondary, if the latter was performed after the transcystic route failure, showed high success rate (around 95%). When the indication to choledochotomy was primary, the necessity for choledochoscopy through choledochotomy to help in the removal of the calculi was 55%. However, when choledochotomy was performed secondarily, in situations where the common bile duct diameter was larger than 6 mm, the use of choledochoscopy with the same purpose involved about 20% of the cases. There was no mortality in this series. CONCLUSION: The laparoscopic exploration of the common bile duct was related to a low rate of morbidity. Therefore, the use of laparoscopy for the treatment of the lithiasis in the common bile duct depends on the criteria for the choice of the best access, making it a safe procedure with very good results.

Reflexividade em saúde: investigação fenomenológica do processo reflexivo prevalente entre os formandos em educação física

O presente trabalho buscou identificar e compreender como se dão os processos reflexivos prevalentes na relação interpessoal constituída na atuação pré-profissional de formandos em um curso na área da educação física. Tendo em vista este objetivo, utilizou-se a fenomenologia como um método capaz de identificar o sentido das coisas dadas à consciência. Optou-se também pela utilização adaptada de um roteiro de supervisão para psicólogos do esporte por abordar amplamente os variados aspectos da experiência relacional em contexto de atendimento. Os resultados apontam para a prevalência do modo de pensamento mecanicista como plano de fundo de uma reflexividade causal e restrita durante a atuação pré-profissional destes formandos. Assim, uma atuação dirigida à reflexibilidade, possibilita uma abertura ao relacionamento interpessoal de maneira a incluir o sujeito a quem a prática se destina como agente do processo, e não como objeto de intervenção. O método fenomenológico pode auxiliar na manutenção e constante aprimoramento deste processo reflexivo, uma vez que permite compreender as dimensões de ordem existencial da atividade física.

Impacto da orientação para a prática regular de atividade física dois anos após o parto

OBJETIVOS: avaliar as modificações na prática de atividade física (AF) e as barreiras para adoção de um estilo de vida saudável em mulheres que receberam orientações nutricionais e de AF durante a gestação e no primeiro ano após o parto. MÉTODOS: estudo de coorte com 57 mulheres (Grupo Controle = 29 e Grupo Intervenção = 28), e idade média igual a 28 (±6) anos. As informações foram obtidas através de entrevistas em visita domiciliar (durante a intervenção) e inquérito telefônico (um ano após o término da intervenção), utilizou-se questionário de AF. Para análise das barreiras foi realizada uma entrevista semiestruturada com questões abertas, as quais foram codificadas e agrupadas para análise dos dados. Foram realizados testes de qui-quadrado, Mann-Whitney U e Friedman. RESULTADOS: aos seis meses, apenas 30% das mulheres do grupo Intervenção realizavam AF no lazer pelo menos 120 minutos por semana, contra 10% do grupo Controle, reduzindo para 18% e 4%, respectivamente, dois anos após o parto. As principais barreiras à prática de AF regular foram: falta de tempo (44%), cuidado com os filhos (37%), trabalho (21%), afazeres domésticos (21%) e comodismo (26%). CONCLUSÕES: futuros programas devem priorizar a aquisição de conhecimento, visando à adoção de um estilo de vida ativo no pós-parto, considerando as barreiras maternas.

Violência contra a mulher na rede de atenção básica: o que os enfermeiros sabem sobre o problema?

OBJETIVOS: descrever o conhecimento dos enfermeiros das Unidades Distritais Básicas de Saúde do município de Ribeirão Preto, SP, Brasil, acerca da violência contra a mulher, particularmente aquela cometida pelo parceiro íntimo. MÉTODOS: estudo quantitativo, transversal e descritivo. Participaram 51 enfermeiros, extraídos de um estudo maior com 221 profissionais de saúde. Os dados foram coletados por meio de questionário que investigava o conhecimento em relação à violência cometida contra as mulheres. RESULTADOS: os enfermeiros acertaram de 76% a 90,2% das questões sobre definição de violência de gênero e 78% obtiveram altos escores em questões sobre epidemiologia da violência; no entanto, 70,6% demonstraram desconhecer sua epidemiologia nos serviços de pré-natal. 83,7% dos enfermeiros demonstraram bom conhecimento sobre como abordar as vítimas para obter a revelação da violência ocorrida e 52% demonstraram conhecimento elevado sobre o manejo dos casos. CONCLUSÕES: os enfermeiros conhecem bem a definição de violência, têm conhecimentos sobre o manejo de casos, a necessidade de notificação e encaminhamentos de casos em situação de risco. Entretanto, desconhecem características epidemiológicas importantes da violência contra a mulher, o que pode ser uma barreira para a atuação dos enfermeiros no atendimento a mulheres em situação de risco, principalmente durante a atenção no pré-natal.

Plug apical com MTA em dente adjacente à área da fissura labiopalatina

O tratamento endodôntico de dentes com forame apical amplo requer consideração especial, devido ao risco de extravasamento do material obturador nos tecidos periapicais durante a obturação, de maneira relevante em áreas próximas às fissuras labiopalatinas. A criação de uma barreira apical é indicada em casos de difícil travamento do cone principal e consequente deficiência do selamento apical. O MTA em decorrência de suas excelentes propriedades biológicas, é o material de escolha para permanecer em contato com tecidos periodontais e periapicais, fazendo parte do arsenal endodôntico especificamente nestes casos de ápice aberto para a confecção de plug apical. Relato clínico: Indivíduo do gênero feminino, com fissura labiopalatina bilateral transforame, a distal dos dentes 11 e 21; compareceu no setor de endodontia do Hospital de Reabilitação de Anomalias Craniofaciais (HRAC-USP), apresentando necrose pulpar do dente 21. Na primeira sessão foi realizado o acesso cirúrgico, neutralização do conteúdo séptico/tóxico em sentido corono-apical, odontometria, biomecânica, curativo intracanal (pasta Calen) selamento provisório com cimento de ionômero de vidro. Na segunda sessão, foi realizada a obturação onde ocorreu extravasamento de material obturador, verificado através da radiografia comprobatória; justificando sua remoção e nova obturação, com prévia confecção de plug apical com MTA. Foi realizada proservação aos 6 meses pós tratamento endodôntico. Conclusão: neste caso, o plug apical com MTA possibilitou a obturação final do canal radicular com segurança, pela confecção de um anteparo apical, evitando extravasamento de material obturador e preservando a área de fissura labiopalatina.

Estudo prospectivo comparativo de sistema especialista de prescrição médica na redução de erro e sobrecarga de trabalho médico

Erros médicos preveníveis(EMP) em hospitais excedem às mortes causadas por acidentes automobilísticos, câncer de mama e AIDS. O Institute of Medicine estima até 98.000 mortes causadas por EMP. O risco é aumentado quando os EMPs ocorrem em pacientes criticamente enfermos ou com medicações que variam com o peso do paciente. A demora da primeira prescrição é uma preocupação em UTI. Fadiga e sobrecarga podem comprometer a segurança numa UTI pediátrica. Objetivos: Comparar a funcionalidade de um Sistema Especialista(SE) experimental com a prescrição médica convencional Materiais/Métodos: Após termo de consentimento, pediatras de um hospital universitário são convidados a fazer a prescrição de 10 itens medicamentosos completos(soro de manutenção, adenosina, adrenalina, atropina, difenilhidantoína, vancomicina , ceftadizima, anfotericina_B, dobutamina, fentanil) para uma criança hipotética. Comparou-se a prescrição convencional com a prescrição feita no SE, após um treinamento prévio de 2 minutos. Uma equipe(médicos, enfermeiras e farmacêuticas) avaliaram os EMPs. Comparações feitas pelo X2, teste exato de fisher, teste t-student pareado ou Wilconson, quando aplicáveis. Significância considerada: p<0.05. Resultados:13 médicos residentes e 7 assistentes participaram do estudo com tempo médio de formação de 10,1+/-9 anos . Constatados 57 casos de EMP (9 ilegibilidades, 23 omissões, 6 erros de dose, 14 erros de diluição e 5 erros de velocidade de infusão) pela prescrição convencional comparado com 1 duplicação de medicação na prescrição por SE(p<0,001). O tempo médio de prescrição dos 10 medicamentos utilizando a abordagem ONE TOUCH do SE foi de 22,4 +/- 5,6 segundos_[13-36 segundos] e estava significantemente abaixo do tempo de prescrição convencional (média:557 +/- 164 segundos; p=0,00088). O tempo médio de prescrição com SE foi 27 vezes(IC95% 21,5- 32,5)) mais rápido que a convencional com economia de 89,1 minutos em uma UTI de 10 leitos. Conclusão:Embora não infalível, o uso de SE requer pouco tempo de treinamento e resulta em significante diminuição de erros e sobrecarga de trabalho.