Relationship between Pst-Ⅰ polymorphism of mucin 4 gene and primary hepatolithiasis / 中华肝胆外科杂志

Objective To investigate the relationship between Pst-Ⅰ polymorphism of mucin 4 gene and primary hepatolithiasis in the Chinese population.Methods Venous blood of 96 healthy controls and 56 patients with hepatolithiasis were collected,and DNA was extracted.Polymerase chain reaction combined with restriction enzyme (PCR-RFLP) digestion was used to detect Pst-Ⅰ polymorphism of mucin 4 gene in the two groups.The genotype and gene frequency between the two groups were then compared.Results The genotype frequencies of GC,GT,TT in the control and the hepatolithiasis groups were 21.3％,12.7％,55.6％ and 53.2％,41.2％,19.8％,respectively.The alleles C and T gene frequencies in the control and the hepatolithiasis groups were 21.5％,72.7％ and 66.3％,30.2％,respectively.There were significant differences in Pst-Ⅰ polymorphism of mucin 4 genotype frequency and gene frequency between the two groups.Conclusion The data showed Pst-Ⅰ polymorphism of mucin 4 gene was associated with primary hepatolithiasis in Chinese patients.

Effect of porcine somatotropin on metabolism, testicular size and sperm characteristics in young boars / Efeito da somatotrofina suína sobre o metabolismo, o tamanho testicular e a qualidade espermática de cachaços jovens

The aim of this study was to evaluate the effect of pST injections on metabolism, testicular size, and sperm characteristics in young boars. Sixty 22-day old piglets were divided into two groups: pST (n=30) and Control (n=30). The pST group was submitted to pST injections (90µg/kg body weight) every three days up to 330 days of age. Blood collections were performed weekly. Testicular weight was measures at 22, 82, 142, 202 and 365 days of age. Libido and fresh semen characteristics were evaluated between 150 and 210 days of age. Semen characteristics were also evaluated during a 72h storage period (15ºC). Testosterone, albumin, and phosphorus blood concentrations were higher in the pST group (P<0.05). The pST group had a higher IGF-I concentration in seminal plasma (P=0.05) and higher testicular weight (P<0.001) compared to the Control group. The pST group had higher ejaculate volume (P<0.001), total sperm count (P=0.047) and number of inseminating doses/ejaculate (P=0.047). During the 72h storage period, the pST group had a lower number of morphological alterations (P<0.001) compared to the Control group. In sum, pST injection in young boars increased testosterone concentration, testicular size, and sperm quality.(AU)

O objetivo deste estudo foi determinar o efeito da administração de pST sobre o metabolismo, o tamanho testicular e a qualidade espermática de cachaços jovens. Foram usados leitões com 22 dias de idade, divididos em dois grupos: pST (n=30) e controle (n=30). O grupo pST foi submetido a injeções de pST (90µg/kg de peso vivo) a cada três dias até 330 dias de idade. Peso testicular foi avaliado aos 22, 82, 142, 202 e 365 dias de idade. Libido e qualidade do sêmen fresco foram avaliados entre 150 e 210 dias de idade. Qualidade espermática foi avaliada durante refrigeração (15ºC) por um período de 72 horas. Concentrações sanguíneas de testosterona, albumina e fósforo foram maiores no grupo pST (P<0,05). O grupo pST apresentou maior concentração de IGF-I no plasma seminal (P=0,05) e maior peso testicular, quando comparado ao grupo controle (P<0,001). O grupo pST apresentou maior volume espermático (P<0,001), concentração espermática (P=0,047) e número de doses espermáticas por ejaculado (P=0,047). Durante o período de 72 horas de refrigeração, o grupo pST teve menor número de patologias espermáticas (P<0,001). Assim, conclui-se que a administração de pST aumenta a concentração sanguínea de testosterona, o tamanho testicular e a qualidade espermática de cachaços jovens.(AU)

Motivation to perform presymptomatic testing in portuguese subjects at-risk for late-onset genetic diseases

El papel del psicólogo clínico en el contexto del consejo genético incluye brindar apoyo a los sujetos en riesgo en el proceso de toma de decisiones, independientemente de la decisión adoptada por el sujeto (conociendo o no el resultado de las pruebas genéticas). El estudio que se informa aborda la motivación para realizar las pruebas pre-sintomáticas (PPS) de sujetos en situación de riesgo para tres enfermedades: polineuropatía amiloide familiar (PAF), la enfermedad de Huntington (EH) y la enfermedad de Machado-Joseph (EMJ) y comparar con la motivación para realizar las PPS para hemocromatosis (HH). La muestra consistió en 213 sujetos portugueses que tenían riesgo genético para contraer las tres enfermedades y 31 sujetos en situación de riesgo genético para contraer hemocromatosis. Ellos fueron evaluados con una entrevista para obtener datos sociodemográficos y debían responder a una pregunta sobre la motivación para llevar a cabo las pruebas pre-sintomáticas. Se obtuvieron siete categorías principales y las siguientes son las más significativas para PAF, EH y EMJ: razones relacionadas con el futuro, razones relacionadas con los demás y razones relacionadas con la curiosidad y la necesidad de conocer. Para hemocromatosis, las más importantes resultaron ser razones relacionadas con los demás y las relacionadas con las características de la enfermedad. La motivación para realizar el test pre-sintomático (PST) de la PAF, EH y EMJ es externa y sin relación con la enfermedad, mientras que la motivación de los sujetos en situación de riesgo para la HH está relacionada con la enfermedad. Las razones relacionadas con los demás es una motivación común en ambos grupos. A los sujetos también les preocupa la posibilidad de transmitir la enfermedad a sus hijos.

The role of the clinical psychologist in the context of genetic counseling includes support for the process of decision-making for subjects at-risk, regardless of the decision that was made. For this, it is important to know the motivations behind these decisions. What may be considered advant-ageous and justifiable reasons to perform the PST for genetic diseases from the medical and public point of view, i.e., planning for the future, helping in the choice of a profession, family planning, improving quality of life and contributing to health, may not be recognized as such by the individual seeking the PST. This study addresses the motivation to perform the presymptomatic testing (PST) of subjects at-risk for three diseases, Familial Amyloid Polyneuro pathy (FAP), Huntington's disease (HD), and Machado-Joseph disease (MJD), compared with the motivation to perform the PST for Hemochromatosis (HH). FAP, HD and MJD are three genetic (monogenic) autosomal dominant late-onset diseases (LON-Ds) with no cure. FAP is a progressive sensorimotor and autonomic neuropathy of adult hood. HD is characterized by a triad of clinical symptoms of chorea (motor, cognitive and psychiatric symptoms), emotional distress and cognitive decline. MJD is characterized by slowly progressive clumsiness in the arms and legs, a staggering lurching gait, sometimes mistaken for drunkenness, difficulty with speech and swallowing, involuntary eye movements, and may be accompanied by double vision or bulging eyes, and lower limb spasticity. HH is a disease in which too much iron accumulates in parenchymal organs, leading to iron overload and subsequent organ toxicity and failure. The study participants consisted in 213 subjects at genetic risk for FAP, HD, and MJD and 31 subjects at genetic risk for HH, that were assessed through an interview to obtain sociodemographic data and the answer to one question about motivation to perform PST: "Which were the reasons that led you to perform the predictive test? "This study was carried out in Center for Predictive and Preventive Genetics (CGPP), Institute for Molecular and Cell Biology (IBMC), Porto (Portugal). This research used a mixed-method, since qualitative and quantitative techniques of data analysis were used. Before deciding to seek genetic counseling and to know their genetic status, subjects at-risk have naturally considered their motives and it was probably the pro-counseling reasons the ones dictating the motivation to perform the PST. This may suggest that in fact there is a prior self-selection to the test, i.e. only those considering to have emotional skills to go through the process, performing the test. Seven major categories were obtained. The most significant ones for FAP, HD and MJD were reasons related to the future, reasons related to others and reasons related to curiosity and to the need to know. For HH, the most important ones were reasons related to others and reasons related to the characteristics of the disease. The motivation of subjects at-risk to perform the PST for FAP, HD and MJD is external and unrelated to the disease, while the motivation of subjects at-risk to perform the PST for HH is related to the disease. Reasons related to others area common motivation: as subjects at-risk for FAP, HD and MJD, subjects at-risk for HH also chose reasons related to others as one of the most important motivations to carry out the PST. These subjects also care about the fact that they can transmit the disease to their children and care about other family members which are already ill. The category reasons related to others includes sub-categories that identify the person and the situation that led to the decision to perform a PST. Subjects at-risk are also concerned about the fact that they have to decide whether or not to have children and its economic implications.

O Lazer na Política Pública de Esporte: Uma análise da Formação no Programa Segundo Tempo / The Leisure in Public Policy Sports: An analysis of the Program Second Time’ training

O objetivo desta pesquisa foi analisar como o lazer é tratado no currículo da formação dos profissionais do Programa Segundo Tempo (PST) do Ministério de Esportes. Como metodologia utilizamos a combinação das pesquisas bibliográfica, documental e a de campo que teve como instrumento entrevistas semi-estruturadas com os 2 gestores dos processos de formação do PST. Os documentos levantados e analisados foram os livros utilizados na formação dos profissionais do PST. Identificamos que o lazer é trabalhado nesse currículo desde 2003 embora só seja considerado um conteúdo programático a partir de 2009. Quanto as concepções de lazer presentes nos documentos destacamos que não possuem uma mesma abordagem o que gera um descompasso no trabalho com o lazer. Entre os saberes selecionados destacamos as perspectivas que o relacionam a uma visão de mercado, que tem como ênfase o consumo de práticas culturais, e entendimento do lazer com direito social que deve ser garantido a população. Por fim, as metodologias encontradas para trabalhar o lazer identificadas foram o Projeto Recreio nas Férias, a tecnologia educacional denominada de Animação Cultural e o trabalho com a concepção de lazer...

A aspect that deserves focus is the understanding of leisure present in programs and actionsdeveloped by the public sector and this way, the goal of this research is to analyze how leisure is dealtwith in the formation of professionals of the Programa Segundo Tempo from the Secretaria de EsporteEducacional of the Ministério de Esportes da União. As methodology I used a bibliography review,document research and analysis of PST documents as well as research using semi-structured interviewswith 2 managers of the PST capacitation process, all data was analyzed. As final considerations Iidentified that leisure has been part of the training process of PST professionals since 2003, although it hasonly become officially part of the program since 2009. Regarding the understanding of leisure present inthe documents, I observed they do not have the same approach, which creates a mismatch in the work withleisure. Among the elected knowledges I found perspectives that relate it to a market view that have asemphasis the consumption of cultural practices, as well as other understanding anchored on leisure associal right and that opposes the logic of leisure as merchandise. Finally, the methodologies found to workleisure since 2009 were the Projeto Recreio nas Férias, the educational technology known as AnimaçãoCultural and the work with the idea of leisure. Thus, the manners of treating leisure in the capacitationprocess of the program can enable processes of reflection by the professionals about the relations in whichleisure is involved...

Combined drug medium with isoniazid and rifampicin for identification of multi-drug resistant Mycobacterium tuberculosis.

A low-cost method of detecting multi-drug resistant Mycobacterium tuberculosis (MDR-TB) with the possibility of quick adoption in a resource limited setting is urgently required. We conducted a study combining isoniazid and rifampicin in a single LJ medium, to detect MDR-TB strains. Combined and individual drug media showed 100% concordance for the detection of MDR-TB and susceptible strains by proportion method. Considering the results, combined isoniazid and rifampicin containing medium could be considered for use in settings where the sole detection of MDR-TB strains is justified.

Preferential Expression of IgA Isotype Switching-associated Transcripts in Mouse Intestinal Lymphoid Tissues

BACKGROUND: Transforming growth factor-beta1 (TGF-beta1) directs class switch recombination (CSR) to IgA isotype, which is a predominant antibody in mucosal surfaces. Although IgA is preferentially committed in mucosal lymphoid tissues, it is not definitely established whether hallmarks of IgA CSR such as IgA germ-line transcripts (GLTalpha), post-switch transcripts (PSTalpha) and circle transcripts (CTalpha) are readily expressed in such tissues. Therefore, we compared the expression of these transcripts among mouse Peyer's patches (PP), mesenteric lymph nodes (MLN), and spleen. METHODS: Levels of GLTs, PSTs and CTs were measured by RT-PCR in isolated PPs, MLNs and spleen cells. RESULTS: GLTalpha and PSTalpha were well expressed in PP and MLN cells but in spleen cells. Similar patterns were observed in the expression of GLgamma2b and PSTgamma2b. On the other hand, these transcripts were only inducible in spleen cells upon stimulated with LPS and TGF-beta1. In addition, CTalpha and CTgamma2b were detected in PP cells. CONCLUSION: PP B cells readily express IgA GLT, PST, and CT. Overall expression patterns of these transcripts were similar in MLN cells. Thus, these results suggest that microenvironment of PP and MLN influences spontaneous IgA CSR, which lacks in systemic lymphoid tissues such as spleen.

Polimorfismo del gen de la banda 3 eritrocítica en grupos étnicos de Costa Rica / Polymorphism of the erythrocyte band 3 gene (EPB3) in ethnic groups of Costa Rica

Band 3 (AE1) is one of the most abundant proteins in the membrane of the human erythrocyte. This protein works as an anionic CI - and HCO3- exchanger and it also functions as an anchor for several proteins of the erythrocyte's cytoesqueleton. Several mutations have been described and many polymorphic variants have been associated to hereditary spherocytosis. The identification of a genetic marker at position 5' of the AEl gene could be associated to several molecular defects of the erythrocyte. This genetic marker is a restriction fragment length polymorphism (RFLP) produced by restriction enzime Pst I. For this polymorphism a total of 216 individuals belonging to seven different populations were analyzed: one from the Central Valley, two African descendants (Lim6n and Guanacaste) and four Amerindians (Bribri, Cabecar, Maleku and Guaymi). The most frequent allele in the Amerindian population was no 1. No significant differences were found with respect to the Hardy-Weinberg equilibrium in six of the populations, although the Guaymi group does present significative differences.