ABSTRACT
Em todo o território nacional tem sido possível identificar variadas iniciativas de protagonismo popular na perspectiva da promoção e da proteção da vida, em busca de territórios saudáveis e sustentáveis. Este texto objetiva descrever a experiência de um processo histórico, dinâmico e permanente de luta e mobilização social contra a violação de direitos fundamentais por saúde e sustentabilidade ambiental, no Assentamento Santa Rita de Cássia II, em Nova Santa Rita, Rio Grande do Sul, Brasil. Essa experiência pode ser considerada como uma ação de fortalecimento e reinvenção da vigilância em saúde pela população, portanto uma Vigilância Popular em Saúde, transgredindo fronteiras fragmentadoras da hegemonia dos saberes, percorrendo caminhos que priorizam e enfrentam os problemas do seu território vivo, território que pulsa e luta desde sua retomada.(AU)
En todo el territorio nacional ha sido posible identificar variadas iniciativas de protagonismo popular desde la perspectiva de la promoción y protección de la vida, buscando territorios saludables y sostenibles. El objetivo de este texto es describir la experiencia de un proceso histórico, dinámico y permanente de lucha y movilización social contra la violación de derechos fundamentales de salud y sostenibilidad ambiental, en el Asentamiento Santa Rita de Cássia II, en Nova Santa Rita, Rio Grande do Sul, Brasil. Esa experiencia puede considerarse como acción de fortalecimiento y reinvención de la vigilancia en salud por parte de la población; por lo tanto, una Vigilancia Popular en Salud, transgrediendo fronteras de fragmentación de la hegemonía de los saberes, recorriendo caminos que priorizan y enfrentan los problemas de su territorio vivo, territorio que pulsa y lucha desde su retomada.(AU)
Throughout the country it had been identified diverse initiatives of popular protagonism in the perspective of promotion and protection of life, in search of healthy and sustainable territories. This text aims at describing the experience of a historical, dynamic and permanent process of struggle and social mobilization against the violation of fundamental rights for health and environmental sustainability in the Settlement Santa Rita de Cássia II, in Nova Santa Rita, Rio Grande do Sul, Brazil. This experience can be considered as an action of strengthening and reinvention of health surveillance by the population, therefore a Popular Health Surveillance, trespassing the fragmenting frontiers of knowledge hegemony, going through paths that prioritize and face the problems of its living territory, a territory that pulsates and struggles since its resumption.(AU)
ABSTRACT
The most frequent epigenetic alterations in Wilms tumor (WT) occur at WT2, assigned to 11p15. WT2 consists of two domains: telomeric domain 1 (DMRH19) that contains the IGF2 gene and an imprinted maternally expressed transcript (H19) and centromeric domain 2 (KvDMR) that contains the genes KCNQ1, KCNQ1OT1 and CDKN1C. In this work, we used pyrosequencing and MS-MLPA to compare the methylation patterns of DMRH19/KvDMR in blood and tumor samples from 40 WT patients. Normal constitutional KvDMR methylation indicated that most of the epigenetic alterations in WT occur at DMRH19. Constitutional DMRH19 hypermethylation (HM DMRH19) was observed in two patients with Beckwith-Wiedemann syndrome. Pyrosequencing and MS-MLPA showed HM DMRH19 in 28/34 tumor samples: 16/34 with isolated HM DMRH19 and 12/34 with concomitant HM DMRH19 and KvDMR hypomethylation, indicating paternal uniparental disomy. With the exception of one blood sample, the MS-MLPA and pyrosequencing findings were concordant. Diffuse or focal anaplasia was present in five tumor samples and was associated with isolated somatic HM DMRH19 in four of them. Constitutional 11p15 methylation abnormalities were present in 5% of the samples and somatic abnormalities in the majority of tumors. Combined analysis of DMRH19/KvDMR by pyrosequencing and MS-MLPA is beneficial for characterizing epigenetic anomalies in WT, and MS-MLPA is useful and reliable for estimation of DNA methylation in a clinical setting.
ABSTRACT
OBJETIVO: Verificar o grau de desconforto referido por homens idosos que realizam pela primeira vez o exame digital retal (EDR) na prevenção do câncer de próstata e o efeito de esclarecimentos prévios sobre essa queixa. MÉTODOS: Estudo prospectivo e aleatório em 120 homens, com idade de 60 a 80 anos, distribuídos em dois grupos: grupo A (consulta médica rotineira) e grupo B (consulta médica com intervenção educativa). No grupo B, os instrumentos de informação foram: palestra informal com esclarecimentos sobre EDR e câncer de próstata, visualização de maquete da pelve masculina, mostruário com as relações anatômicas prostáticas, simulador do EDR e DVD com animação tridimensional dos órgãos pélvicos. O grau de desconforto foi medido através da escala visual de dor. Utilizou-se o teste do qui-quadrado, com significância de 0,05. RESULTADOS: Houve diferença significativa entre o grau de desconforto referido no EDR entre os dois grupos, 81 por cento do grupo B referiram-no como leve e 80 por cento do grupo A, como moderado ou intenso, com p significativo de 0,01. Os sinais e sintomas foram a principal razão da consulta em 35 por cento dos pacientes, 78 por cento foram à consulta sozinhos e 81 por cento comentaram o exame com a parceira. Sem diferença estatística, 94,2 por cento no grupo A e 97,8 por cento no grupo B repetiriam o exame no ano seguinte e 91,6 por cento no grupo A e 96,6 por cento no grupo B relataram que o exame não foi pior do que imaginavam. Todos recomendariam o EDR para parentes ou amigos. CONCLUSÃO: Os pacientes que fizeram o EDR pela primeira vez após consulta urológica com esclarecimentos educativos prévios sobre o tema referiram significativamente menor desconforto.
OBJECTIVE: To assess the degree of discomfort reported by elderly men when first submitted to digital rectal examination (DRE) in the prevention of prostate cancer and the effect of previous explanations on this complaint. METHODS: A prospective, randomized study in 120 men aged 60 to 80 years, divided into two groups: group A (routine medical appointment) and group B (medical appointment with educational intervention). In group B, the information tools were informal talk with explanations of DRE and prostate cancer, visualization of model of the male pelvis and the anatomical relations with the prostate, DRE simulator and DVD with three-dimensional animation of the pelvic organs. The degree of discomfort was measured by visual scale of pain. We used the chi-square test, with significance at 0.05. RESULTS: There were significant differences between the degree of discomfort mentioned in DRE between the two groups; 81 percent of group B reported it as mild, while 80 percent of group A referred it as moderate or intense, with significant p=0.01. The signs and symptoms were the main reason for consultation in 35 percent of patients; 78 percent went to be consulted alone and 81 percent commented on their own examination with their spouses. With no statistical difference, 94.2 percent in group A and 97.8 percent in group B repeated the examination the following year and 91.6 percent in group A and 96.6 percent in group B reported that the exam was not worse than imagined. All would recommend DRE for relatives or friends. CONCLUSION: Patients who did the first DRE after urological consultation with prior educational clarification on the issue reported significantly less discomfort.
Subject(s)
Aged , Aged, 80 and over , Humans , Male , Middle Aged , Digital Rectal Examination/adverse effects , Patient Education as Topic , Patient Satisfaction , Prospective StudiesABSTRACT
INTRODUCTION: Androgen decline in the aging man has become a topic of increasing clinical relevance worldwide, as the reduction in testosterone levels has been reported to be accompanied by loss of muscle mass, accumulation of central adiposity, impaired mobility and increase risk of bone fractures. Although well-established in studies conducted in developed countries, progressive decline in serum testosterone levels with age has been poorly investigated in Brazil. AIM: To determine the pattern of blood testosterone concentrations decline with age in a cohort of Brazilian healthy military men. MATERIALS AND METHODS: We retrospectively reviewed data on serum testosterone measurements of healthy individuals that had undergone a routine check-up at the Military Biology Institute. Blood samples were obtained early in the morning, and total testosterone concentration was determined using a commercial chemoluminescent immunoassay. Mean values were analyzed in five age groups: ≤ 40, 41 to 50, 51 to 60, 61 to 70, and > 70 years. MAIN OUTCOME MEASURE: Mean total testosterone levels. RESULTS: 1,623 subjects were included in the analysis; mean age was 57 years (24 to 87), and mean testosterone level was 575.5 ng/dL (25.0 to 1308.0 ng/dL). The evaluation of age-related changes in total testosterone levels revealed a progressive reduction in serum levels of this hormone with increasing age. Testosterone levels below 300 ng/dL were reported in 321 participants, a prevalence of nearly 20% in the study population. CONCLUSION: In agreement with other findings, a reduction of total testosterone levels with age was reported for healthy Brazilian men.
Subject(s)
Aging/blood , Military Personnel , Testosterone/blood , Adult , Age Factors , Aged , Brazil , Humans , Hypogonadism/blood , Hypogonadism/diagnosis , Male , Middle Aged , Retrospective Studies , Testosterone/deficiencyABSTRACT
INTRODUCTION: Androgen decline in the aging man has become a topic of increasing clinical relevance worldwide, as the reduction in testosterone levels has been reported to be accompanied by loss of muscle mass, accumulation of central adiposity, impaired mobility and increase risk of bone fractures. Although well-established in studies conducted in developed countries, progressive decline in serum testosterone levels with age has been poorly investigated in Brazil. AIM: To determine the pattern of blood testosterone concentrations decline with age in a cohort of Brazilian healthy military men. MATERIALS AND METHODS: We retrospectively reviewed data on serum testosterone measurements of healthy individuals that had undergone a routine check-up at the Military Biology Institute. Blood samples were obtained early in the morning, and total testosterone concentration was determined using a commercial chemoluminescent immunoassay. Mean values were analyzed in five age groups: < 40, 41 to 50, 51 to 60, 61 to 70, and > 70 years. MAIN OUTCOME MEASURE: Mean total testosterone levels. RESULTS: 1,623 subjects were included in the analysis; mean age was 57 years (24 to 87), and mean testosterone level was 575.5 ng/dL (25.0 to 1308.0 ng/dL). The evaluation of age-related changes in total testosterone levels revealed a progressive reduction in serum levels of this hormone with increasing age. Testosterone levels below 300 ng/dL were reported in 321 participants, a prevalence of nearly 20 percent in the study population. CONCLUSION: In agreement with other findings, a reduction of total testosterone levels with age was reported for healthy Brazilian men.
Subject(s)
Adult , Aged , Humans , Male , Middle Aged , Aging/blood , Military Personnel , Testosterone/blood , Age Factors , Brazil , Hypogonadism/blood , Hypogonadism/diagnosis , Retrospective Studies , Testosterone/deficiencyABSTRACT
OBJECTIVE: To assess the degree of discomfort reported by elderly men when first submitted to digital rectal examination (DRE) in the prevention of prostate cancer and the effect of previous explanations on this complaint. METHODS: A prospective, randomized study in 120 men aged 60 to 80 years, divided into two groups: group A (routine medical appointment) and group B (medical appointment with educational intervention). In group B, the information tools were informal talk with explanations of DRE and prostate cancer, visualization of model of the male pelvis and the anatomical relations with the prostate, DRE simulator and DVD with three-dimensional animation of the pelvic organs. The degree of discomfort was measured by visual scale of pain. We used the chi-square test, with significance at 0.05. RESULTS: There were significant differences between the degree of discomfort mentioned in DRE between the two groups; 81% of group B reported it as mild, while 80% of group A referred it as moderate or intense, with significant p=0.01. The signs and symptoms were the main reason for consultation in 35% of patients; 78% went to be consulted alone and 81% commented on their own examination with their spouses. With no statistical difference, 94.2% in group A and 97.8% in group B repeated the examination the following year and 91.6% in group A and 96.6% in group B reported that the exam was not worse than imagined. All would recommend DRE for relatives or friends. CONCLUSION: Patients who did the first DRE after urological consultation with prior educational clarification on the issue reported significantly less discomfort.
Subject(s)
Digital Rectal Examination/adverse effects , Patient Education as Topic , Aged , Aged, 80 and over , Humans , Male , Middle Aged , Patient Satisfaction , Prospective StudiesABSTRACT
We studied a child with apparent monosomy of chromosome 21. Cytogenetic, FISH and microsatellite analyses revealed a 45,X,-21,+der(X)t(X;21)(q25;q21.1) karyotype resulting from a de novo, unbalanced, X;21 non-reciprocal translocation of paternal origin, with partial monosomy of chromosomes 21 and X. An extreme, skewed X-inactivation pattern of the der(X) chromosome was demonstrated. Skewed inactivation probably accounted for a mild phenotype with respect to Xq25-->qter deletion while propagation of inactivation to the adjacent 21q region may account for mild clinical features associated to distal 21q monosomy.
Subject(s)
Chromosomes, Human, Pair 21 , Chromosomes, Human, X , Monosomy , Translocation, Genetic , Child, Preschool , Female , Genomic Imprinting , Humans , In Situ Hybridization, Fluorescence , Karyotyping , X Chromosome InactivationSubject(s)
Penile Neoplasms , Brazil , Humans , Lymph Node Excision/methods , Male , Neoplasm Staging , Papillomavirus Infections/complications , Penile Neoplasms/diagnosis , Penile Neoplasms/pathology , Penile Neoplasms/therapy , Penile Neoplasms/virology , Penis/surgery , Precancerous Conditions/pathology , Societies, MedicalABSTRACT
Os autores descrevem um novo caso de monossomia parcial do braço longo do cromossomo 6[46,XY,del(6)(q22 qter)]. A ocorrência de retardo psicomotor severo é esperada em funçäo do paciente apresentar um dos maiores segmentos deletados além da banda 6q25.
Subject(s)
Humans , Male , Female , Infant, Newborn , Infant , Adult , Chromosome Deletion , Chromosomes, Human, Pair 6 , Abnormalities, Multiple/genetics , Intellectual Disability/genetics , MonosomyABSTRACT
Os autores descrevem dois novos casos de displasia Geleofísica em irmäos, uma doença autossômica recessiva rara do metabolismo de glicoproteínas cujo defeito básico ainda näo foi determinado.
Subject(s)
Humans , Male , Female , Infant, Newborn , Child, Preschool , Child , Abnormalities, Multiple/genetics , Chromosome Aberrations , Face , Foot Deformities, Congenital , Glycoproteins/metabolism , Growth Disorders , Hand Deformities, CongenitalABSTRACT
A síndrome de Noonan (SN), entidade genética de herança autossômica dominante, subdiagnosticada em funçäo da expressividade extremamente variável do quadro clínico, é possivelmente uma das síndromes mendelianas mais freqüentes. Em um estudo prospectivo foram avaliados 30 pacientes a partir de um protocolo de investigaçäo clínico-laboratorial. Entre os critérios clínicos descritos na SN os mais importantes para o diagnóstico foram: ptose palpebral, micrognatia, fendas anti-down, raiz nasal deprimida, base nasal larga, hipertelorismo mamilar, criptorquidia e ptergium colli. Retardo mental era presente ou questionável em 14 pacientes. Os achados laboratoriais mais freqüentes foram: cardiopatia (predominando estenose pulmonar e comunicaçäo inter-atrial), anomalias renais, atraso de idade óssea, anomalias de coluna cervical, alteraçöes oftalmológicas, alteraçöes de audiçäo e coagulograma alterado. Apenas três pacientes (10 porcento) apresentaram displasia linfática, sugerindo possivelmente uma mortalidade aumentada neste grupo. Dois pacientes têm a reconhecida associaçäo da SN com neurofibromatose. Dois casos familiais foram confirmados e há nove casos familiais suspeitos. A idade paterna avançada nos casos näo familiais seria compatível com a mutaçäo nova para gen autossômico dominante. Os dados apresentados ressaltam a importância da sistematizaçäo do protocolo de investigaçäo e acompanhamento, visando a antecipaçäo e prevençäo de complicaçöes, bem como subsídios para o aconselhamento genético
Subject(s)
Humans , Male , Female , Infant , Child, Preschool , Child , Adolescent , Adult , Noonan Syndrome/complications , Noonan Syndrome/diagnosis , Noonan Syndrome/genetics , Genetic Counseling/methodsABSTRACT
Estudamos um paciente que apresentava baixa estatura, retardo mental moderado, convulsöes, ictiose, anosmia e hipogonadismo hipogonadotrópico (Síndrome de Kallmann). A análise citogenética identificou a translocaçäo X;Y (Xp22.3;Yq11) de origem materna. Os resultados do estudo molecular foram compatíveis com uma síndrome de genes contíguos. A diminuiçäo do ângulo carpal na mäe e as deformidades do côndilo medial da tibia em ambos relacionam essas anormalidades ao segmento cromossômico perdido do cromossomo X.