Preliminary results of the pilot study for Cystic Fibrosis newborn screening in Portugal

The Portuguese national program for newborn screening started in October 2013 a pilot study for cystic fibrosis. This study will be done in 80,000 Portuguese newborns and will probably last for 1 year long. An IRT/ PAP/ IRT strategy is being used, with 1st IRT and PAP measured in the first newborn screening sample, usually taken between the 3rd and 6th days of life. IRT and PAP cutoff values, in the first sample, are 65 ng/mL and 1.8 ng/mL, respectively. A failsafe procedure was adopted for IRT>100ng/mL (PAP cutoff=0.5ng/mL) and IRT>150ng/mL (immediate request of 2nd sample). Newborns which maintain an elevated IRT in the 2nd sample, usually taken in the 3rd week of life, are sent to a specialized clinical center for sweat test, clinical evaluation and genetic analysis. For the first 52,000 newborns studied, we had a 0.37% recall rate and, after IRT measurement in the 2nd sample, eleven newborns were further evaluated. In two cases, the sweat test and genetic analysis turn out to be negative. Nine patients were confirmed, of which seven were F508del homozygotes. All identified patients have at least one F508del allele, which may indicate that this mutation is more frequent in Portugal than it was previously thought. According with these preliminary results cystic fibrosis may have in Portugal a 1:5,700 approximate frequency

Que sea ley: Análisis del debate parlamentario por la Ley de Interrupción Voluntaria del Embarazo en Argentina del día 13 de junio de 2018.

Trabajo Final para optar al grado académico de Licenciatura en Comunicación Social, Universidad Nacional de Córdoba (inédita). Calificación 8 (ocho)El presente trabajo es un estudio exploratorio de análisis de contenido interpretativo de discurso parlamentario en torno a la ley de Interrupción Voluntaria del Embarazo (IVE). Se enmarca en el área temática de la comunicación política, y analiza una muestra de los discursos parlamentarios de los diputados y las diputadas en la sesión del día 13 de junio en Argentina, a raíz del debate por la ley IVE. Para enmarcar el contexto, retoma el recorrido de la Campaña Nacional por el Derecho al Aborto Legal, Seguro y Gratuito, y los cambios en la legislación nacional en torno al aborto. A la vez, desarrolla un marco teórico basado en los dos temas fundamentales que atraviesan el trabajo: el discurso parlamentario y la cuestión de género. Se confeccionó un corpus de treinta discursos, utilizando como criterio de selección la jefatura de bloques. Para analizar el contenido de los mismos, se elaboraron categorías que ayudaron a identificar las nociones sobre las que basaron su voto los y las representantes, ya sea en apoyo o en rechazo al proyecto de ley; más específicamente, las nociones sobre la mujer, el aborto, el derecho a la vida y el rol del Estado presentes en el contenido de los discursos

Cystic fibrosis-related liver disease: a single-center experience

Prospective studies concerning liver disease in pediatric cystic fibrosis patients are scarce. The present study aimed to describe the prevalence and clinical expression of cystic fibrosis - related liver disease, in a cohort of 62 pediatric patients. Descriptive study, resulting from the prospective evaluation, between 1994 and 2009, of 62 pediatric patients (age <18 years) with cystic fibrosis. The follow-up protocol included a clinical assessment every 2 months, liver function tests every 6 months and annual liver ultrasonography. The cumulative prevalence of liver disease was 11.2% (7/62 cases). All patients had ΔF508 mutation and pancreatic insufficiency, none had meconium ileus. The liver involvement became clinically evident at a mean age of 8 years (3–15 years), revealed by hepatomegaly or hepatosplenomegaly (3 cases) and/ or abnormalities of liver function tests (3 cases) changes of liver ultrasound (7 cases) with evidence of portal hypertension (2 cases). Four patients were submitted to liver biopsy; biliary fibrosis was documented in one case, focal biliary cirrhosis in 2 cases and multilobular cirrhosis in another case. Within a median 11.6 years follow-up period (all patients under UDCA therapy after liver disease diagnosis), progression of liver disease was observed in 2 patients; one patient developed refractory variceal bleeding and progressive hepatic failure, requiring liver transplant. The results of the present study agree with those of previous pediatric studies, further documenting clinical expression of liver disease in CF patients, which is usually detected in the first decade of life and emphasize the contribution of ultrasound to early diagnosis of liver involvement. Moreover, although advanced liver disease is a relatively rare event, early isolated liver transplantation may have to be considered at this age group

Gut microbiota and probiotics as palliative care which supports physical activity in geriatric health / Microbiota e probiotic gut como cuidado paliativo que apoia a atividade física na saúde geriátrica

Physical activity is considered a significant factor in the anti-aging process. In this sense, there is increasing scientific and clinical interest in the connections of nutrition and health as part of the aging progression. Studies have shown that there is an association between aging problems and gut microbiota performance. We performed this narrative review used the following databases: PubMed, Web of Science and Medline. The research was performed using the following keywords: [[[Aging] or [Senescence] or [Biological Aging] or [Aging, Biological] or [Aged] or [Aged, 80 and over] or [Life Expectancy] or [Length of Life]] in combination with [[microbiota] or [microbiotas] or [Microbiome] or [microbiomes] or [Human Microbiome] or [Human microbiomes] or [microbiomes, Human] or [Microbiome, Human]] not [[disease]]]. We selected analyzed 35 studies after search. The main results indicated that, associating care with the microbiota and physical activity practices in older adults can increase their chances of longevity. A lower prevalence of Bifidobacteria increase the chance of gastrointestinal infection with lower intestinal protection. The immunomodulatory properties of probiotics increase the prevention of infectious disease-related morbidity and mortality in older adults. There is still no research on the impact of the association between the care of the microbiota in older adults practicing physical activity. This review has the potential to save geriatric therapists time by providing comprehensive summaries of large information regarding the probiotics associated with physical practices used in palliative care in geriatric health

Sobre gotas de chuva: a categoria consciência na obra de L.S. Vigotski como caminho para a formação humana para além da dicotomia corpo-mente

: O objetivo do presente artigo é situarmos a leitura de Vigotski sobre a categoria consciência a partir da crise na Psicologia que produz, no interior das teorias psicológicas, um imobilismo na compreensão da subjetividade humana, acarretando uma cisão no entendimento do indivíduo. Dessa forma, discutimos textos do autor no Tomo I das Obras Escolhidas que apontam para possibilidades de superação da crise de método instaurada e do dualismo que permeia e assombra a Psicologia até os dias atuais. Elegendo a categoria consciência como uma possibilidade de unidade corpo-mente, concluímos que Vigotski faz um esforço teórico para elaborar uma teoria que almeja a compreensão do ser humano enquanto ser social

Possibilidades e limites na criação coletiva de artigos da Wikipédia: o artigo “Vitor Marinho de Oliveira”

No presente estudo, discutiu-se, a partir da análise da criação do artigo “Vitor Marinho de Oliveira”, – um intelectual vinculado à área sociocultural da Educação Física – o fenômeno da Wikipédia, uma enciclopédia organizada em hipertexto e de colaboração cooperativa. Para tal discussão, descreveu-se o processo de criação e submissão do artigo na Wikipédia, apontando os limites e as possibilidades, bem como a interação com a própria plataforma. Utilizou-se como referencial teórico as concepções de Álvaro Vieira Pinto sobre a tecnologia, além de autores que trataram especificamente da Wikipédia. Como principais resultados, foram encontradas limitações para publicação de artigos na Wikipédia, embora os critérios de criação coletiva do conhecimento, tratando-o como um bem público e com difusão gratuita, atenda a uma perspectiva crítica da tecnologia. Para além disso, recomenda-se aos pesquisadores da Educação Física a massificação de publicações no ciberespaço visando preencher essa lacuna e dar usufruto aos leitores da Wikipédia sobre questões relevantes da área, incluindo o conhecimento dos seus principais intelectuais

Maternal outcomes and risk factors for COVID-19 severity among pregnant women

Pregnant women may be at higher risk of severe complications associated with the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), which may lead to obstetrical complications. We performed a case control study comparing pregnant women with severe coronavirus disease 19 (cases) to pregnant women with a milder form (controls) enrolled in the COVI-Preg international registry cohort between March 24 and July 26, 2020. Risk factors for severity, obstetrical and immediate neonatal outcomes were assessed. A total of 926 pregnant women with a positive test for SARS-CoV-2 were included, among which 92 (9.9%) presented with severe COVID-19 disease. Risk factors for severe maternal outcomes were pulmonary comorbidities [aOR 4.3, 95% CI 1.9–9.5], hypertensive disorders [aOR 2.7, 95% CI 1.0–7.0] and diabetes [aOR2.2, 95% CI 1.1–4.5]. Pregnant women with severe maternal outcomes were at higher risk of caesarean section [70.7% (n = 53/75)], preterm delivery [62.7% (n = 32/51)] and newborns requiring admission to the neonatal intensive care unit [41.3% (n = 31/75)]. In this study, several risk factors for developing severe complications of SARS-CoV-2 infection among pregnant women were identified including pulmonary comorbidities, hypertensive disorders and diabetes. Obstetrical and neonatal outcomes appear to be influenced by the severity of maternal disease

Mitos, simbolismos e o conhecimento acadêmico-científico na capoeira

O artigo pretende discutir questões sócio-históricas da capoeira para auxiliar na organização de sua história, considerando os mitos sistematizados historicamente e a produção acadêmico-científica que acaba desvelando as formulações ancoradas nos mitos. Isto se engendra pela relação da capoeira no processo de formação dos mitos desenvolvidos no imaginário da formação social brasileira. Partindo-se de um estudo de revisão bibliográfica, buscamos identificar mitos, simbolismos e representações, objetivando organizar a produção do conhecimento sobre a capoeira. Utilizamos como referência para análise as categorias de conhecimento cotidiano e conhecimento científico sintetizados por Vigotski. Como resultado, identificou-se a necessidade de estudos que visem compreendê-la em sua totalidade (mitos, simbolismos, produção acadêmico-científica)