Pesquisa | SciELO

ABSTRACT Objectives: Congenital hypothyroidism (CH) can be permanent (PCH) or transient (TCH). While the importance of thyroxine in myelination of the brain is undisputed, the benefits to neurodevelopmental outcomes of TCH treatment are controversial. Our objectives were to determine predictive factors for PCH and verify its prevalence changes over time. Subjects and methods: A total of 165 children were evaluated at 3 years of age to verify the diagnosis of PCH. 130 were submitted to a two-step cluster analysis, with the aim of grouping them into homogeneous clusters. The mean incidence of PCH and TCH was calculated from 2004 to 2010 and 2011 to 2015. Results: Sixty-six children were diagnosed with PCH, and 99 were diagnosed with TCH. Eighty-one percent of PCH children and all TCH children with thyroid imaging had glands in situ. Eighty children (61.5%) were in Cluster 1, 8 children (6.2%) were in Cluster 2 and 42 children (32.3%) were in Cluster 3. No children had PCH in Cluster 1, while 87.5% of children in Cluster 2 and all children in Cluster 3 had PCH. The most important predictor for PCH was the initial serum TSH, which was marginally higher in importance than the blood spot TSH, followed by the initial serum free T4. The mean incidence of PCH (odds ratio: 1.95, 95% CI 1.36 to 2.95, p < 0.0001) and TCH (odds ratio 1.33, 95%, CI 1.02 to 1.77, p = 0,038) increased over time. Conclusions: The most important PCH predictors are the initial serum TSH and the blood spot TSH. The mean incidence of both PCH and TCH in our series increased.

https://doi.org/10.20945/2359-3997000000579

Combined superior mesenteric artery syndrome and nutcraker syndrome presenting as acute pancreatitis: a case report
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Castro, Bárbara Neto

; Ferreira, Ana Rita

; Graça, Susana

; Oliveira, Manuel

Jornal Vascular Brasileiro

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2023, Volume 22 elocation e20220161

Resumo: En Pt | Texto: En Pt | PDF: En | PDF: Pt

Abstract Superior mesenteric artery syndrome designates compression of the third part of the duodenum between the superior mesenteric artery and the aorta. This condition has a low incidence, being more common in thin young women. Nutcracker syndrome is compression of the left renal vein between the superior mesenteric artery and the aorta. Both entities are rare, and their coexistence has been reported in a few cases. Conservative treatment targeting weight gain is sufficient in most cases. An association between the superior mesenteric artery syndrome and acute pancreatitis has rarely been reported. We intend to describe the case of an 18-year-old girl who was admitted to the emergency room with epigastric pain and emesis. Our investigation revealed acute acalculous pancreatitis. During work-up, we discovered superior mesenteric artery syndrome and a compressed left renal vein. The patient is on conservative treatment, and her symptoms have improved.

Resumo A síndrome da artéria mesentérica superior designa compressão da terceira parte do duodeno pela artéria mesentérica superior e a aorta. Essa condição tem uma baixa incidência, sendo mais comum em mulheres jovens magras. A síndrome de quebra-nozes resulta da compressão da veia renal esquerda pela artéria mesentérica superior e a aorta. Ambas as entidades são raras, e a sua coexistência foi descrita em poucos casos. Tratamento conservador com o objetivo de ganho ponderal é suficiente na maioria dos casos. A associação entre a síndrome da artéria mesentérica superior e a pancreatite aguda foi raramente relatada. Pretendemos descrever o caso de uma jovem de 18 anos que recorreu ao serviço de urgência com epigastralgia e vômitos. A investigação realizada revelou pancreatite aguda alitiásica. Durante o estudo complementar, foi identificada a síndrome da artéria mesentérica superior, bem como uma veia renal esquerda comprimida. A paciente encontra-se em tratamento conservador, apresentando melhora clínica.

https://doi.org/10.1590/1677-5449.202201612

The state of Sergipe contribution to GH research: from Souza Leite to Itabaianinha syndrome
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Aguiar-Oliveira, Manuel H.

; Salvatori, Roberto

Archives of Endocrinology and Metabolism

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Dez 2022, Volume 66 Nº 6 Páginas 919 - 928

Resumo: En | Texto: En | PDF: En

ABSTRACT In the late 19th century, José Dantas de Souza Leite, a physician born in Sergipe, published the first detailed clinical description of acromegaly under the guidance of the French neurologist Pierre Marie. In 2014, the Brazilian Society of Endocrinology and Metabolism created the “José Dantas de Souza Leite Award”, which is granted every two years to a Brazilian researcher who has contributed to the development of endocrinology. In 2022, the award was given to another physician from Sergipe, Manuel Hermínio de Aguiar Oliveira, from the Federal University of Sergipe for the description of “Itabaianinha syndrome” in a cohort of individuals with isolated GH deficiency due to a homozygous inactivating mutation in the GH-releasing hormone receptor gene. This research, which was carried out over almost 30 years, was performed in partnership with Roberto Salvatori from Johns Hopkins University and in collaboration with other researchers around the world. This review article tells the story of Souza Leite, some milestones in the history of GH, and summarizes the description of Itabaianinha syndrome.

https://doi.org/10.20945/2359-3997000000567

Endoscopic Treatment of an Idiopathic Pancreaticopleural Fistula
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Correia, João

; Pinho, Rolando

; Francisco, Elsa

; Proença, Luísa

; Fernandes, Carlos

; Oliveira, Manuel

GE-Portuguese Journal of Gastroenterology

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Out 2022, Volume 29 Nº 5 Páginas 54 - 57

Resumo: En Pt | Texto: En Pt | PDF: En | PDF: Pt

Abstract A 61-year-old man was diagnosed with an exudative pleural effusion with raised amylase and bilirubin levels. The patient had no previous history of acute pancreatitis or trauma and no clinical or radiological signs of chronic pancreatitis. On thoracoabdominal computed tomography, a pancreatic pseudocyst with a pancreaticopleural fistula was identified. Endoscopic retrograde cholangiopancreatography identified a ductal disruption site in the body of the pancreas. Pancreatic sphincterotomy and stent placement in the duct of Wirsung, combined with medical management, allowed fistula closure, pseudocyst reabsorption, and no relapse of the pleural effusion. The relevance of this case lies not only in its rarity but also as it highlights the importance of a multidisci-plinary approach in such uncommon conditions. Optimal management of this condition is debatable due to the absence of prospective studies comparing medical, endoscopic, and surgical approaches.

Resumo Um homem de 61 anos foi diagnosticado com um derrame pleural exsudativo com níveis elevados de amilase e bilirrubina. O doente não apresentava história prévia de pancreatite aguda, trauma ou sinais e sintomas de pancreatite crónica. Na tomografia computadorizada toracoabdominal, foi identificado um pseudoquisto pancreático com uma fístula pancreatopleural. A colangiopancreatografia retrógrada endoscópica identificou um ponto de disrupção ductal no corpo do pâncreas, pelo que se optou pela realização de esfincterotomia pancreática e colocação de uma prótese plástica no ducto de Wirsung. Esta abordagem, combinada com o tratamento médico, permitiu o encerramento da fístula e resolução do derrame pleural, bem como reabsorção do pseudo-quisto pancreático. A relevância deste caso reside não só na sua raridade, mas também porque destaca a importân-cia de uma abordagem multidisciplinar para otimizar o tratamento. Dada a infrequência desta condição clínica, não existem estudos prospectivos que comparem as abordagens médica, endoscópica e cirúrgica.

https://doi.org/10.1159/000518447

Art and science: impact of semioccluded vocal tract exercises and choral singing on quality of life in subjects with congenital GH deficiency
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Andrade, Bruna M. R. de

; Valença, Eugenia H. O.

; Salvatori, Roberto

; Oliveira Neto, Luiz A.

; Souza, Anita H. O.

; Oliveira, Alaíde H. A.

; Oliveira, Mario C.P.

; Melo, Enaldo V.

; Carvalho, Susana de

; Sales, Neuza J

; Monteiro, Gisane C.

; Lima, José Marcel de

; Annunziato, Marcos Felipe Harder

; Mannis, Guilherme Daniel Breternitz

; Souza, Lucas E. de A.

; Goes, Yasmin D.

; Carvalho, Thayza S.

; Farias, Celiane de

; Santos, Michela P. dos

; Cardoso, Gabriela P. F.

; Sousa, Carla S. Pereira

; Santana, Julia Rodrigues

; Sales, Ester Almeida

; d’Avila, Jeferson Sampaio

; Aguiar-Oliveira, Manuel H.

Archives of Endocrinology and Metabolism

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Abr 2022, Volume 66 Nº 2 Páginas 198 - 205

Resumo: En | Texto: En | PDF: En

ABSTRACT Objectives: Currently, not much is known about the interactions between voice and growth hormone (GH). We have described large kindred with isolated GH deficiency (IGHD) due to a GHRH receptor mutation, resulting in severe short stature and high-pitched voice. These IGHD individuals have little interest in GH treatment, as they consider themselves “short long-lived people”, rather than patients. Interestingly, they report normal general quality of life, but they rate their Voice-Related Quality of Life (V-RQOL) as low. Here, we assessed the social and auditory-perceptual impacts of artistic-intervention voice therapy with semioccluded vocal tract exercises (SOVTE) and choral singing, on their voices. Material and methods: Seventeen GH-naïve adult IGHD individuals were enrolled in a single-arm interventional pre-post study with 13 weekly sessions of choir singing over 90 days. Outcome measures were V-RQOL scores, self-assessment of voice, and auditory-perceptual analysis (GRBAS scale, G: grade of the severity of dysphonia; R: roughness; B: breathiness; A: asthenia; and S: strain). Results: Marked improvements in total (p = 0.0001), physical (p = 0.0002), and socioemotional (p = 0.0001) V-RQOL scores and in self-assessment of voice (p = 0.004) were found. The general grades of vocal deviation (p = 0.0001), roughness (p = 0.0001), breathiness (p = 0.0001) and strain (p = 0.0001) exhibited accentuated reductions. Conclusions: Voice therapy with semioccluded vocal tract exercises and choral training improved social impact and perceptual voice assessments in IGHD subjects and markedly improved their voice-related quality of life. This is particularly important in a setting where GH replacement therapy is not widely accepted.

https://doi.org/10.20945/2359-3997000000449

The cultural stereotype of professional groups: Consensus, accessibility and typicality of stereotypic contents
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Santos, Ana Sofia

; Almeida, Filipa de

; Palma, Tomás A.

; Oliveira, Manuel

; Garcia-Marques, Leonel

Análise Psicológica

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Dez 2017, Volume 35 Nº 4 Páginas 557 - 568

Resumo: Pt En | Texto: Pt En | PDF: Pt | PDF: En

Este trabalho teve como objetivo medir o conteúdo estereotípico de vários grupos profissionais numa amostra Portuguesa, através da determinação dos atributos estereotípicos partilhados culturalmente, da sua acessibilidade e tipicidade. No Estudo 1 o conteúdo estereotípico de 28 grupos profissionais foi medido através duma tarefa de geração espontânea de atributos. A frequência de geração dos atributos foi usada para medir o consenso sobre os atributos gerados. A ordem em que os atributos foram gerados foi usada para determinar a sua acessibilidade. Adicionalmente, para explorar ainda mais a ligação entre os atributos gerados e o grupo profissional, uma nova amostra (Estudo 2) avaliou a tipicidade de cada atributo para o grupo profissional. Discute-se em detalhe a utilidade de estudar os conteúdos estereotípicos de grupos profissionais.

The purpose of the present work was to measure the stereotypic content of several professional groups in a Portuguese sample, by determining the culturally shared stereotypic attributes, their accessibility and typicality. Study 1 used a spontaneous attribute-generation-task to collect the stereotypic content of 28 professional groups. The frequency of generation was used to measure consensus on the attributes generated. The order of generated attributes was used to determine their accessibility. To further explore the link between attributes and the professional group, a new sample (Study 2) rated how typical each attribute was of the professional group. We map out the usefulness of studying professional stereotype’s content.

https://doi.org/10.14417/ap.1 688 downloads

Colecistitis aguda enfisematosa perforada
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Ribeiro-Gonçalves, Mário

; Oliveira, Manuel

; Barbosa, Fernando

; Midões, Alberto

Revista chilena de cirugía

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Out 2017, Volume 69 Nº 5 Páginas 357 - 358

Resumo: Es | Texto: Es | PDF: Es

https://doi.org/10.1016/j.rchic.2017.02.004 2044 downloads

Evolution to permanent or transient conditions in children with positive neonatal TSH screening tests in Sergipe, Brazil
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Matos, Diana M.

; Ramalho, Roberto J. R.

; Carvalho, Bruno M.

; Almeida, Maria Augusta C. T.

; Passos, Luciana F. D.

; Vasconcelos, Talmay T. S.

; Melo, Enaldo V.

; Oliveira, Carla R. P.

; Santos, Elenilde G.

; Resende, Karla F.

; Aguiar-Oliveira, Manuel H.

Archives of Endocrinology and Metabolism

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Out 2016, Volume 60 Nº 5 Páginas 450 - 456

Resumo: En | Texto: En | PDF: En

ABSTRACT Objectives To assess the evolution to permanent or transient conditions in children with positive neonatal TSH tests in Sergipe, Brazil, from 2004 to 2010. Subjects and methods Out of 193,794 screened newborns, 713 presented a neonatal TSH level higher than the local cutoff (5.2 µU/mL). From the confirmatory serum TSH values, the children were diagnosed with initial congenital hypothyroidism (CH) or suspect CH. From the evolution, they were classified as permanent CH, hyperthyrotropinemia, or transient TSH elevation. The mean incidence of each final condition was calculated for the total period of time. Results The initial diagnosis included 37 CH (18.1%) and 167 suspect CH (81.9%) cases. The final diagnosis included 46 cases of permanent CH (22.5%), 56 of hyperthyrotropinemia (27.5%), and 102 of transient TSH elevation (50.0%). Out of the 37 cases of initial CH, 23 (62.2%) had permanent CH, nine (24.3%) had hyperthyrotropinemia, and five (13.5%) had transient TSH elevation. Out of the 167 suspect CH cases, 23 (13.8%) had permanent CH, 47 (28.1%) had hyperthyrotropinemia and 97 (58.1%) had transient TSH elevation. The mean incidence after the follow up was 1:4,166 for permanent CH, 1:3,448 for hyperthyrotropinemia, and 1:1,887 for transient TSH elevation. Eighty-six percent of the children with an initial diagnosis of CH and 41.9% with suspect CH had a permanent condition (CH or hyperthyrotropinemia). Conclusions The follow-up of children with an initial diagnosis of CH or suspect CH is necessary to determine whether the disorder is permanent because predicting the evolution of the condition is difficult.

https://doi.org/10.1590/2359-3997000000189 1374 downloads

Terroir da Região Demarcada do Douro: um estudo de caso
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Felgar, Carolina

; Magalhães, Nuno

; Ruão, Paulo

; Oliveira, Manuel

Revista de Ciências Agrárias

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Set 2015, Volume 38 Nº 3 Páginas 445 - 452

Resumo: Pt En | Texto: Pt En | PDF: Pt | PDF: En

Na Região Demarcada do Douro (RDD), sub-região do Cima Corgo, num conjunto de propriedades vitivinícolas da margem Sul do rio Douro, havia uma percepção empírica de que os vinhos provenientes de áreas distintas tinham também um caracter distinto e que essas áreas poderiam constituir diferentes terroir. Foi implementado um trabalho em duas áreas próximas, onde havia indicações empíricas da produção de vinhos com características diferentes, e postas sobre observação um conjunto numeroso de videiras das castas ‘Touriga Franca', ‘Touriga Nacional' e ‘Tinta Roriz' com os objetivos de determinar as características de produção e dos mostos de cada uma das castas, a suas adaptabilidades aos locais específicos e determinar a possibilidade de definir os terroir baseando-se nas características de produção e dos mostos. Foram medidas as produções individuais de cada videira e a respectiva lenha de poda. Os mostos foram sujeitos a caracterização química. As áreas de produção podem ser consideradas como terroir, as castas mostraram comportamento distinto em cada uma delas e há necessidade de adaptar a gestão dos copados e solos a cada local e casta.

In the Demarcated Region of Douro (DRD), sub-region of Cima-Corgo, there is a set of producing estates where existed an empirical perception that the wine produced in different areas have also a distinctive character, and those areas might be defined as terroir. An experimental work was set up in two closely located areas, where that perception existed, and a large number of grapevines of ‘Touriga Franca', ‘Touriga Nacional' e ‘Tinta Roriz' were under observation to determine the characteristics of their production and of their musts, their adaptability to each location and to define each location as a distinctive terroir. It was measured the individual production of each grapevine and the respective pruning weight. The musts were chemically analyzed. Each location can be considered a terroir, the grapevine varieties showed different adaptability to each location, and the management of the vineyards must be adjusted to each place and variety.

1875 downloads

10.

The Role of Regional Innovation Systems (RIS) in Translating R&D Investments into Economic and Employment Growth
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Moutinho, Ricardo

; Au-Yong-Oliveira, Manuel

; Coelho, Arnaldo

; Pires Manso, José

Journal of technology management & innovation

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Jul 2015, Volume 10 Nº 2 Páginas 9 - 23

Resumo: En | Texto: En | PDF: En

The emergence of the so-called "European Paradox" shows that increasing Governmental R & D Investment is far from being a 'panacea' for stagnant growth. It is worth noting that Governmental R & D Investment does not have a statistically significant impact on employment, indicating the need to assess the trade-offs of policies that could lead to significant increases in government expenditure. Surprisingly, Governmental R & D Employment does not contribute to 'mass-market' employment, despite its quite important role in reducing Youth-Unemployment. Despite the negative side-effects of Governmental R & D Employment on both GVA and GDP, University R & D Employment appears to have a quite important role in reducing Unemployment, especially Youth-Unemployment, while it also does not have a downside in terms of economic growth. Technological Capacity enhancement is the most effective instrument for reducing Unemployment and is a policy without any downside regarding sustainable economic development.

1221 downloads

11.

Present and Future Languages: How Innovation has Changed Us
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Au-Yong-Oliveira, Manuel

; Moutinho, Ricardo

; Ferreira, João José Pinto

; Ramos, Ana Luisa

Journal of technology management & innovation

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Jul 2015, Volume 10 Nº 2 Páginas 166 - 182

Resumo: En | Texto: En | PDF: En

Given the growth in usage of online social networks, such as Facebook, YouTube, Instagram and Snapchat, which rely on videos and images (such as photos) to relay information between connections, new intuitive languages, though not yet formally recognized, have emerged. We also herein give the example of a new language we have created - the Business Narrative Modelling Language (BNML) - which communicates business perspectives based on pictorial representations, supported by the narrative. Currently, the concept of language is linked to the use of words. We foresee that such a definition of language will have to change to include other structured forms of communication, resorting and relying on graphics, also. We give examples of BNML representations, with regards to two case studies we have performed, based on face-to-face interviews and company visits. At ExpressGlass technology plays an important role, while at Yazaki Saltano a remarkable team effort between Toyota suppliers is made evident, to create innovation.

2024 downloads

12.

Factors associated with vaccination coverage in children < 5 years in Angola
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Oliveira, Manuel Falcão Saturnino de

; Martinez, Edson Zangiacomi

; Rocha, Juan Stuardo Yazlle

Revista de Saúde Pública

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Dez 2014, Volume 48 Nº 6 Páginas 906 - 915

Resumo: Pt En | Texto: Pt En | PDF: Pt | PDF: En

OBJETIVO Analisar a cobertura vacinal e os fatores associados ao esquema vacinal completo em crianças menores de cinco anos. MÉTODOS Inquérito domiciliar seccional e censitário com 1.209 crianças até cinco anos de idade, de Bom Jesus, Angola, em 2010. Entrevistas, questionários, carteiras de vacinação infantil e de saúde materna foram fontes de dados. A análise estatística utilizou modelos lineares generalizados em que a variável dependente segue distribuição binária (vacinados; não vacinados) e a função de ligação é logarítmica, tendo como variáveis independentes os fatores individuais, familiares e socioeconômicas das crianças. RESULTADOS Registrou-se cobertura vacinal de 37,0%, maior em menores de um ano de idade (55,0%), heterogênea entre os bairros; 52,0% das crianças, de ambos os sexos, não tinha carteira de vacinas. A razão de prevalência da situação vacinal mostrou diferença significativa para a idade da criança, grau de conhecimento das mães, tamanho da família, posse de eletrodomésticos e destino de lixo. CONCLUSÕES Persistiram grupos vulneráveis com cobertura vacinal aquém da preconizada. Alguns fatores expressam desigualdades que representam barreiras à vacinação completa, o que indica a necessidade de reforçar políticas mais equitativas. O conhecimento desses fatores contribui para o planejamento de medidas de promoção vacinal ajustadas aos grupos mais vulneráveis.

OBJECTIVE To analyze vaccination coverage and factors associated with a complete immunization scheme in children < 5 years old. METHODS This cross-sectional household census survey evaluated 1,209 children < 5 years old living in Bom Jesus, Angola, in 2010. Data were obtained from interviews, questionnaires, child immunization histories, and maternal health histories. The statistical analysis used generalized linear models, in which the dependent variable followed a binary distribution (vaccinated, unvaccinated) and the association function was logarithmic and had the children’s individual, familial, and socioeconomic factors as independent variables. RESULTS Vaccination coverage was 37.0%, higher in children < 1 year (55.0%) and heterogeneous across neighborhoods; 52.0% of children of both sexes had no immunization records. The prevalence rate of vaccination significantly varied according to child age, mother’s level of education, family size, ownership of household appliances, and destination of domestic waste. CONCLUSIONS Vulnerable groups with vaccination coverage below recommended levels continue to be present. Some factors indicate inequalities that represent barriers to full immunization, indicating the need to implement more equitable policies. The knowledge of these factors contributes to planning immunization promotion measures that focus on the most vulnerable groups.

https://doi.org/10.1590/s0034-8910.2014048005284 9947 downloads

13.

Factors associated with vaccination coverage in children < 5 years in Angola
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Oliveira, Manuel Falcão Saturnino de

; Martinez, Edson Zangiacomi

; Rocha, Juan Stuardo Yazlle

Revista de Saúde Pública

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Dez 2014, Volume 48 Nº 6 Páginas 906 - 915

Resumo: Pt En | Texto: Pt En | PDF: Pt | PDF: En

https://doi.org/10.1590/S0034-8910.2014048005284 1685 downloads

14.

Evaluation of parathyroid function and mineral metabolism in psychiatric patients using lithium salts
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Oliveira, Thiago Costa de

; Campos Neto, Ivo Alves de

; Aguiar-Oliveira, Manuel Hermínio de

; Pereira, Francisco de Assis

Arquivos Brasileiros de Endocrinologia & Metabologia

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Ago 2014, Volume 58 Nº 6 Páginas 619 - 624

Resumo: Pt En | Texto: Pt En | PDF: Pt | PDF: En

Objetivo: Avaliar a função paratireoidiana e o metabolismo mineral em pacientes psiquiátricos usuários de sais de lítio. Materiais e métodos: Foram avaliados os níveis séricos de cálcio total, cálcio iônico, fósforo inorgânico, fosfatase alcalina, albumina, paratormônio (PTH), ureia, creatinina, 25-hidroxivitamina D e lítio de 35 pacientes diagnosticados com transtorno afetivo bipolar usuários de carbonato de lítio (CL) há pelo menos um ano (Grupo Lítio – GL) e 35 indivíduos saudáveis (Grupo Controle – GC). Resultados: O GL e o GC foram pareados por sexo e idade. Somente se observou diferença estatística em relação aos níveis de PTH e cálcio iônico, com p < 0,004 e p < 0,03, respectivamente. Hiperparatireoidismo secundário foi encontrado em oito (22.8%) pacientes do GL e em nenhum do GC. No GL, não houve correlação entre litemia, tempo de uso e posologia do CL. Conclusão: Nossos dados demonstram que o lítio pode suscitar um desequilíbrio no eixo paratireoideano, caracterizado por níveis elevados de PTH.

Objective: To evaluate parathyroid function and mineral metabolism in psychiatric patients users of lithium salts. Materials and methods: We measured the serum levels of calcium, ionized calcium, inorganic phosphorus, alkaline phosphatase, albumin, parathyroid hormone (PTH), urea, creatinine, 25-hydroxy-vitamin D and lithium of 35 patients diagnosed with bipolar disorder in use of lithium carbonate (LC) for at least one year (Lithium Group – LG) and 35 healthy subjects (Control Group – CG). Results: The LG and CG were matched by sex and age. There was only statistic difference in relation to the levels of PTH and ionized calcium, with p < 0.004 and p < 0.03, respectively. Secondary form of hyperparathyroidism (HPT) was found in eight (22.8%) LG patients and in none of the CG. There was no correlation between lithemia, usage time and dosage of LC. Conclusion: Our data demonstrate that lithium may create an imbalance in the parathyroid axis, characterized by elevated levels of PTH.

https://doi.org/10.1590/0004-2730000002983 2932 downloads

15.

Evaluation of effectiveness and outcome of PKU screening and management in the State of Sergipe, Brazil
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Ramalho, Antônio R. O.

; Ramalho, Roberto J. R.

; Oliveira, Carla R. P.

; Magalhães, Marta M. G. S.

; Santos, Elenilde G.

; Sarmento, Polyana M. P.

; Matos, Diana O.

; Oliveira, Mario C. P.

; Oliveira, André L. P.

; Aguiar-Oliveira, Manuel H.

Arquivos Brasileiros de Endocrinologia & Metabologia

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Fev 2014, Volume 58 Nº 1 Páginas 62 - 67

Resumo: Pt En | Texto: Pt En | PDF: Pt | PDF: En

Objetivos: A fenilcetonúria (PKU) foi a primeira causa metabólica hereditária de retardamento mental para a qual foi desenvolvido um programa de triagem em recém-nascidos (NBS). O objetivo deste estudo foi avaliar a eficácia do NBS para a PKU e o manejo dos casos em Sergipe (SE), Brasil.Materiais e métodos: Revisamos as concentrações de fenilalanina no filtro de papel coletado do calcanhar (PKUneo) de 43.449 recém-nascidos, suas concentrações de sangue obtidas por punção venosa em indivíduos com PKUneo anormal, a idade das crianças em diversas fases do programa, a incidência da doença no período de janeiro de 2007 a junho de 2008 e o controle metabólico dos pacientes.Resultados: A cobertura da NBS/SE foi de 78,93%. A idade das crianças era de 10 ± 7 dias na coleta de PKUneo. Doze crianças foram reconvocadas com base no ponto de corte de PKUneo aos 28 ± 13 dias de idade. Destas, as concentrações de fenilalanina por venipunctura foram normais em cinco. A incidência da hiperfenilalaninemia foi 1/43.449 e de PKU foi 1/8.690 (5 casos), e um indivíduo suspeito foi a óbito. Outro óbito ocorreu na coorte em um caso de PKU confirmado. O tratamento para a PKU começou com 51 ± 12 dias. Nos quatro pacientes sob restrição de fenilalanina alimentar, o controle metabólico foi frequentemente difícil.Conclusões: PKU NBS/SE apresenta uma cobertura satisfatória e ponto de corte adequado para reconvocação e diagnóstico, mas o início do tratamento é atrasado e o controle no seguimento é frequentemente inadequado.

Objectives: Phenylketonuria (PKU) was the first inherited metabolic disease known to cause mental retardation for which a newborn screening program (NBS) was developed. The objective of this study was to evaluate the effectiveness of PKU NBS and the management of cases in the northeastern Brazilian state of Sergipe (SE).Materials and methods: We reviewed the phenylalanine concentrations in filter-paper collected from the heel (PKUneo) of 43,449 newborns; blood concentrations obtained by venipuncture in the subjects with abnormal PKUneo; the children’s age at several phases of the program, the incidence of the disease from January 2007 to June 2008; and metabolic control of the patients.Results: The coverage of NBS/SE was 78.93%. The children’s age was 10 ± 7 days at PKUneo collection. Twelve children were recalled based on the PKUneo cutoff value at 28 ± 13 days. From these, the concentrations of phenylalanine collected by venipuncture were normal in five children. The incidence of hyperphenylalaninemia was 1/43,449, and of PKU was 1/8,690 (5 cases). One suspected subject died. Another death occurred in the cohort, in a confirmed PKU case. PKU treatment began within 51 ± 12 days of life. In the four patients under dietary phenylalanine restriction, metabolic control was often difficult.Conclusions: PKU NBS/SE has satisfactory coverage and adequate cutoff for recalling patients and diagnosis, but the onset of treatment is delayed, and follow-up metabolic control is frequently inadequate.

https://doi.org/10.1590/0004-2730000002885 3279 downloads

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