Optimal space-time coverage and exploration costs in groundwater monitoring networks

A method to determine the optimal subset of stations from a reference level groundwater monitoring network is proposed. The method considers the redundancy of data from historical time series, the times associated with the total distance required to run through the entire monitoring network, and the sum of the times for each monitoring station. The method was applied to a hypothetical case-study consisting of a monitoring network with 32 stations. Cost-benefit analysis was performed to determine the number of stations to include in the new design versus loss of information. This optimisation problem was solved with simulated annealing. Results showed that the relative reduction in exploration costs more than compensates for the relative loss in data representativeness.info:eu-repo/semantics/publishedVersio

Transient Symptomatic Zinc Deficiency in an Exclusively Breastfed Infant

A 3-month-old, full term female infant, adequate for gestational age, and exclusively breastfed, was admitted with a 10 day history of generalised scaling erythematous dermatitis, affecting the face (perinasal, nasolabial folds and periauricular), acral and intertriginous areas, with irritability and failure to thrive. Her mother had been treated with isoniazid since the third trimester because of family contact with tuberculosis. Based on a diagnosis of suspected impetiginised eczema, the infant was treated with flucloxacillin and prednisolone, and maternal isoniazid was suspended, with no improvement. Investigations found low serum zinc levels in the infant (33 μg/dL; normal range (NR) >60 μg/dL), normal plasma zinc levels in the mother (111.3 μg/dL; NR 68-120 μg/dL) and lower than the normal range of zinc levels in breast milk (270μg/L; NR 1000-2500 μg/L), suggesting acrodermatitis caused by zinc deficiency. Oral zinc supplementation (3 mg/kg/day) was started with a marked improvement in skin lesions, as well as good weight gain. At the age of 6 months, after food diversification, supplementation was suspended, without any recurrence of symptoms.info:eu-repo/semantics/publishedVersio

Expanding the Genetic Spectrum of ANOS1 Mutations in Patients with Congenital Hypogonadotropic Hypogonadism

STUDY QUESTION: What is the prevalence and functional consequence of ANOS1 (KAL1) mutations in a group of men with congenital hypogonadotropic hypogonadism (CHH)? SUMMARY ANSWER: Three of forty-two (7.1%) patients presented ANOS1 mutations, including a novel splice site mutation leading to exon skipping and a novel contiguous gene deletion associated with ichthyosis. WHAT IS KNOWN ALREADY: CHH is characterized by lack of pubertal development and infertility, due to deficient production, secretion or action of GnRH, and can be associated with anosmia/hyposmia (Kallmann syndrome, KS) or with a normal sense of smell (normosmic CHH). Mutations in the anosmin-1 (ANOS1) gene are responsible for the X-linked recessive form of KS. STUDY DESIGN, SIZE, DURATION: This cross-sectional study included 42 unrelated men with CHH (20 with KS and 22 with normosmic CHH). PARTICIPANTS/MATERIALS, SETTING, METHODS: Patients were screened for mutations in the ANOS1 gene by DNA sequencing. Identified mutations were further investigated by RT-PCR analysis and multiplex ligation-dependent probe amplification (MLPA) analysis. MAIN RESULTS AND THE ROLE OF CHANCE: Hemizygous mutations were identified in three (7.1%) KS cases: a novel splice acceptor site mutation (c.542-1G>C), leading to skipping of exon 5 in the ANOS1 transcript in a patient with self-reported normosmia (but hyposmic upon testing); a recurrent nonsense mutation (c.571C>T, p.Arg191*); and a novel 4.8 Mb deletion involving ANOS1 and eight other genes (VCX3B, VCX2, PNPLA4, VCX, STS, HDHD1, VCX3A and NLGN4X) in KS associated with ichthyosis. LIMITATIONS, REASONS FOR CAUTION: Objective olfactory testing was not performed in all cases of self-reported normosmia and this may have underestimated the olfactory deficits. WIDER IMPLICATIONS OF THE FINDINGS: This study further expands the spectrum of known genetic defects associated with CHH and suggests that patients with self-reported normal olfactory function should not be excluded from ANOS1 genetic testing. STUDY FUNDING/COMPETING INTEREST(S): This study was funded by the Portuguese Foundation for Science and Technology. The authors have no conflicts of interest.info:eu-repo/semantics/publishedVersio

Expanding the Genetic Spectrum of ANOS1 Mutations in Patients with Congenital Hypogonadotropic Hypogonadism

STUDY QUESTION: What is the prevalence and functional consequence of ANOS1 (KAL1) mutations in a group of men with congenital hypogonadotropic hypogonadism (CHH)? SUMMARY ANSWER: Three of forty-two (7.1%) patients presented ANOS1 mutations, including a novel splice site mutation leading to exon skipping and a novel contiguous gene deletion associated with ichthyosis. WHAT IS KNOWN ALREADY: CHH is characterized by lack of pubertal development and infertility, due to deficient production, secretion or action of GnRH, and can be associated with anosmia/hyposmia (Kallmann syndrome, KS) or with a normal sense of smell (normosmic CHH). Mutations in the anosmin-1 (ANOS1) gene are responsible for the X-linked recessive form of KS. STUDY DESIGN, SIZE, DURATION: This cross-sectional study included 42 unrelated men with CHH (20 with KS and 22 with normosmic CHH). PARTICIPANTS/MATERIALS, SETTING, METHODS: Patients were screened for mutations in the ANOS1 gene by DNA sequencing. Identified mutations were further investigated by RT-PCR analysis and multiplex ligation-dependent probe amplification (MLPA) analysis. MAIN RESULTS AND THE ROLE OF CHANCE: Hemizygous mutations were identified in three (7.1%) KS cases: a novel splice acceptor site mutation (c.542-1G>C), leading to skipping of exon 5 in the ANOS1 transcript in a patient with self-reported normosmia (but hyposmic upon testing); a recurrent nonsense mutation (c.571C>T, p.Arg191*); and a novel 4.8 Mb deletion involving ANOS1 and eight other genes (VCX3B, VCX2, PNPLA4, VCX, STS, HDHD1, VCX3A and NLGN4X) in KS associated with ichthyosis. LIMITATIONS, REASONS FOR CAUTION: Objective olfactory testing was not performed in all cases of self-reported normosmia and this may have underestimated the olfactory deficits. WIDER IMPLICATIONS OF THE FINDINGS: This study further expands the spectrum of known genetic defects associated with CHH and suggests that patients with self-reported normal olfactory function should not be excluded from ANOS1 genetic testing. STUDY FUNDING/COMPETING INTEREST(S): This study was funded by the Portuguese Foundation for Science and Technology. The authors have no conflicts of interest.info:eu-repo/semantics/publishedVersio

O professor como mediador na construção das aprendizagens

Relatório da Prática de Ensino Supervisionada apresentado no ISPA – Instituto Universitário para obtenção de grau de Mestre em Educação Pré-Escolar e Ensino do 1o Ciclo do Ensino BásicoO presente relatório emerge da Prática Supervisionada do final do Mestrado em Educação PréEscolar e Ensino do 1º Ciclo do Ensino Básico. O trabalho de investigação apresentado surge do estágio numa instituição privada com um grupo do 2º ano de escolaridade que integra 21 alunos. Tendo como objetivos caracterizar as estratégias de mediação de interações nos momentos de trabalho em grande grupo, e compreender de que forma promovem o avanço da discussão coletiva, elaboraram-se duas questões de investigação: 1) Que tipo de estratégias são usadas nos momentos coletivos? e 2) De que forma é que contribuem para avanços nos processos de aprendizagem?. Adotou-se uma metodologia qualitativa tendo sido realizada uma observação participante. Os instrumentos utilizados para a recolha de dados foram gravações áudio e excertos do Diário de Bordo. Analisaram-se as dinâmicas e diálogos do grupo e construíram-se duas grelhas, fazendo a ponte entre a teoria e experiência vivida, com categorias de intervenção do professor e categorias de intervenção das crianças. Consideraram-se cinco excertos de discussão, dois deles mediados pela professora cooperante e três mediados pela professora estagiária. Observou-se uma dinâmica de co-construção, em que o adulto promovia uma participação ativa das crianças através de práticas de questionamento, reformulação, sistematização e apelo ao envolvimento por meio de perguntas relacionadas com experiências anteriores das crianças. Observou-se que as crianças se apropriaram deste tipo de dinâmica, elaborando também elas, sistematizações e reformulações, associando-as ao pensamento de outros intervenientes do grupo. Verificou-se que as estratégias utilizadas contribuíram para o avanço nos processos de aprendizagem.ABSTRACT: The present report emerges from the Supervised Practice of the end of the Master in Pre-School Education and Teaching of the 1st Cycle of Basic Education. The research work presented arises from the internship in a private institution with a group of the 2nd year of schooling that integrates 21 students. With the objectives of characterizing the strategies for mediating interactions in large group work and understanding how they promote the advancement of collective discussion, two research questions were elaborated: 1) What kind of strategies are used in collective moments? and 2) How do they contribute to advances in learning processes? A qualitative methodology was adopted and a participant observation was carried out. The instruments used for data collection were audio recordings and excerpts from the Logbook. The dynamics and dialogues of the group were analyzed and two grids were built, bridging the gap between theory and lived experience, with categories of teacher intervention and categories of children's intervention. Five discussion excerpts were considered, two of them mediated by the cooperating teacher and three mediated by the trainee teacher. A dynamic of co-construction was observed, in which the adult promoted an active participation of the children through practices of questioning, reformulation, systematization and appeal to involvement through questions related to previous experiences of the children. It was observed that the children appropriated this type of dynamics, also elaborating systematizations and reformulations, associating them with the thinking of other actors in the group. It was verified that the strategies used contributed to the progress in the learning processe

Percentis do peso de nascimento para a idade gestacional, numa população de recém-nascidos

Objectivo: Construir curvas de percentis do peso de nascimento para a idade gestacional, na população de recém-nascidos de um Hospital de Apoio Perinatal Diferenciado na área da Grande Lisboa. Metodologia: Análise dos registos do peso de nascimento e idade gestacional dos recém-nascidos do hospital desde Janeiro de 2000 a Dezembro de 2004. A idade gestacional foi calculada pelo primeiro dia da última menstruação, ou baseada na ecografia, se esta foi realizada até às 22 semanas. O peso de nascimento foi avaliado em balança electrónica nos primeiros minutos de vida. Resultados: no período referido, houve 25834 nascimentos. Destes, 966 foram excluídos: 136 nados mortos, 305 por idade gestacional desconhecida e 525 de gravidez gemelar. Obtivemos um total de 24868 nados vivos, com idade gestacional compreendida entre as 22 e 43 semanas. A variação da média do peso em meninas e meninos, de acordo com a idade gestacional foi a seguinte: 1021g/1167 g às 28 semanas, 1896 g/1963 g às 32 semanas, 3241 g/3360 g às 39 semanas. Com os dados obtidos, construímos curvas de percentis (p5, p10, p25, p50, p75, p90 e p95) para cada idade gestacional. Comentários: A realização deste estudo e a construção de tabelas de percentis adequadas à população do hospital, permite- nos uma definição mais correcta dos grupos de risco, do seu prognóstico e como consequência a elaboração de estratégias de prevenção adequadas. A avaliação do crescimento intra-uterino dos recém-nascidos em Portugal deveria utilizar curvas obtidas na sua população. Contudo, é importante incluir outras variáveis como o comprimento, o perímetro cefálico, a patologia materna, o peso e altura dos pais e desse modo definir de forma correcta o crescimento intra-uterino adequado, para cada idade gestacional, nesta população

Analytical methods applied to diverse types of Brazilian propolis

Propolis is a bee product, composed mainly of plant resins and beeswax, therefore its chemical composition varies due to the geographic and plant origins of these resins, as well as the species of bee. Brazil is an important supplier of propolis on the world market and, although green colored propolis from the southeast is the most known and studied, several other types of propolis from Apis mellifera and native stingless bees (also called cerumen) can be found. Propolis is usually consumed as an extract, so the type of solvent and extractive procedures employed further affect its composition. Methods used for the extraction; analysis the percentage of resins, wax and insoluble material in crude propolis; determination of phenolic, flavonoid, amino acid and heavy metal contents are reviewed herein. Different chromatographic methods applied to the separation, identification and quantification of Brazilian propolis components and their relative strengths are discussed; as well as direct insertion mass spectrometry fingerprinting

Neonatal morbidity and outcome of live born premature babies after attempted illegal abortion with misoprostol.

Misoprostol is a synthetic prostaglandin currently employed to induce labor. Association with illegal abortion has been reported; however, neonatal outcome and morbidity after a failed attempt of abortion has not been described. OBJECTIVES: To report the association between misoprostol self-medication and preterm labor and to assess perinatal risk factors, morbidity and early outcomes. METHODS: We conducted a prospective study of all very low birth weight (VLBW) infants delivered in Hospital Fernando Fonseca, during a 5-year period. VLBW infants were assigned to misoprostol group (MG) when preterm delivery was attributed to misoprostol and matched with newborns with similar gestational age, birth- weight, and gender. RESULTS: During the study period 311 VLBW infants were born. Nineteen belonged to misoprostol group (MG) and 58 were selected for controls. Mothers from MG were significantly younger (21.5 vs 27.5, p = 0.001) and from African origin (74 vs 31%, p = 0.006), had significantly less prenatal care (21 vs 67%, p = 0.000), less antenatal steroids (5 vs 50%, p = 0.001), and were delivered less often by C-section (11 vs 60%, p = 0.000). MG infants had significantly higher rates of patent ductus arteriosus (58 vs 29%, p = 0.031) and chronic lung disease (47 vs 14%, p = 0.026). Mortality rate at 3 months was similar in both groups, but the incidence of abnormal neurodevelopment at 1 year of age was significantly higher in the MG (50 vs 16%, p= 0.02)

Quality and effectiveness of different approaches to primary care delivery in Brazil

BACKGROUND: Since 1994, Brazil has developed a primary care system based on multidisciplinary teams which include not only a physician and a nurse, but also 4–6 lay community health workers. This system now consists of 26,650 teams, covering 46% of the Brazilian population. Yet relatively few investigations have examined its effectiveness, especially in contrast with that of the traditional multi-specialty physician team approach it is replacing, or that of other existing family medicine approaches placing less emphasis on lay community health workers. Primary health care can be defined through its domains of access to first contact, continuity, coordination, comprehensiveness, community orientation and family orientation. These attributes can be ascertained via instruments such as the Primary Care Assessment Tool (PCATool), and correlated with the effectiveness of care. The objectives of our study are to validate the adult version of this instrument in Portuguese, identify the extent (quality) of primary care present in different models of primary care services, and correlate this extent with measures of process and outcomes in patients with diabetes, hypertension and coronary heart disease (CHD). METHODS/DESIGN: We are conducting a population-based cross-sectional study of primary care in the municipality of Porto Alegre. We will interview a random sample totaling 3000 adults residing in geographic areas covered by four distinct models of primary care of the Brazilian national health system or, alternatively, by one nationally prominent complementary health care service, as well as the physicians and nurses of the health teams of these services. Interviews query perceived quality of care (PCATool-Adult Version), patient satisfaction, and process indicators of management of diabetes, hypertension and known CHD. We are measuring blood pressure, anthropometrics and, in adults with known diabetes, glycated hemoglobin. DISCUSSION: We hope to contribute not only by validating the PCATool-Adult Version for use in Brazil, but also by furnishing ample data concerning the appropriate mix of health care professionals in the primary care team, a question of international import. Once validated, future use of this instrument should help direct advances aiming at improving the quality of primary care in Brazil