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- Lupus Eritematoso Sistémico em doente com Síndrome de Joubert – caso clínicoPublication . Correia, T.; Gonzaga, D.; Manuela, F.; Temudo, T.; Matos, P.; Guedes, M.; Gomes, L.; Reis, M.G.O síndrome de Joubert (SJ) é uma patologia autossómica recessiva rara, que resulta de uma anomalia da morfogénese do Sistema Nervoso Central. Clinicamente, cursa com hipotonia, anomalias do ritmo respiratório, apraxia oculomotora, ataxia, e atraso de desenvolvimento psicomotor. Imagiologicamente (TAC, RMN cerebral) caracteriza-se pelo sinal do “dente molar” resultante da agenesia do vermis cerebeloso Os autores descrevem o caso clínico de uma adolescente com o diagnóstico de SJ em quem se instalou, ao longo de dois meses, o quadro clínico caracterizado por: sintomas constitucionais, microadenopatias, poliartrite, edema e vasculite nos membros inferiores. O seu estudo conduziu ao diagnóstico de Lupus Eritematoso Sistémico (LES). Este caso ilustra a dificuldade do diagnóstico desta patologia auto-imune, sobretudo ocorrendo numa adolescente com atraso mental profundo. Que seja do conhecimento dos autores, este é o primeiro caso descrito de SJ associado a uma doença auto-imune. ABSTRACT Joubert Syndrome (JS) is a rare autosomal recessive disorder, resulting from an anomaly of the central nervous system’s morphogenesis. It is characterized by hypotonia, oculomotor apraxia, neonatal respiratory abnormalities pattern and a development delay. Its radiological (cerebral CT, MRI) hallmark is the “molar tooth sign”. The authors present the case of a teenager girl with JS, who experienced constitutional signs for two months accompanied by mycroadenopathies, polyarthritis, edema and vaculities in lower limbs. Laboratory investigation allowed us to diagnose a Systemic Lupus Erithematosus (SLE). The present case underlines the diagnostic difficulties of this autoimmune disease, especially when it occurs in a person with severe mental retardation. As far as the author’s acquaintance on this matter, it is the first JS case in association with an autoimmune disease.
- Prevalência da enurese nocturna em crianças em idade escolar na zona Norte de PortugalPublication . Bandeira, A.; Barreira, J.; Matos, P.A enurese nocturna é um problema comum na infância, podendo considerarse em muitos casos uma perturbação do desenvolvimento com resolução espontânea com o crescimento. Na nossa comunidade não se conhecem verdadeiramente a prevalência, as causas e o impacto que este problema acarreta nas crianças e nas famílias afectadas. Objectivos: Estimar a prevalência da enurese nocturna em crianças do ensino básico. Verificar a associação entre enurese nocturna e história familiar de enurese, roncopatia, noção de sono pesado, hiperactividade, história de infecção urinária, instabilidade vesical, incontinência urinária e obstipação. Avaliar o impacto da enurese nocturna na qualidade de vida. Participantes e métodos: Participaram no estudo quinze hospitais. A população alvo era constituída pelas crianças do 1º ciclo do ensino básico das áreas dos hospitais envolvidos no estudo. Trata-se de um estudo transversal e descritivo realizado através de um questionário anónimo, de auto-preenchimento pelos encarregados de educação. A enurese foi definida como molhar a cama pelo menos uma vez por mês a partir dos 5 anos de idade. Resultados: Dos questionários enviados obtivemos uma taxa de resposta de 62%. O total de questionários obtidos foi de 2104 (sexo feminino 50%). A prevalência global de enurese encontrada foi de 6,9% (9,4% para o sexo masculino e 4,3% para o sexo feminino); 18% dos casos eram enureses secundárias. Encontrou- se associação estatisticamente significativa entre enurese nocturna e o sexo masculino, história familiar positiva, encoprese, incontinência urinária, instabilidade vesical e noção de sono pesado. Não foi encontrada associação com significado estatístico entre enurese e hiperactividade, ressonar, infecção do tracto urinário ou obstipação. A enurese tendeu a ser mais frequente nos alunos com pior rendimento escolar. A procura de ajuda profissional verificouse apenas em metade dos casos de enurese (51%), sendo mais frequente quanto maior a percepção de atingimento na qualidade de vida. Apenas em um terço das crianças com enurese (33% ) tinha sido experimentada alguma forma de tratamento. Comentários: A prevalência de enurese nesta população escolar foi concordante com estudos realizados noutros países, bem como a diminuição significativa da prevalência da enurese com a idade. Confirma-se a associação significativa da enurese com o sexo masculino, a história familiar positiva, a incontinência urinária, a instabilidade vesical e a encoprese. Apenas metade das crianças com este problema foi levada ao médico, e apenas um terço recebeu algum tipo de tratamento. Os resultados apontam para a necessidade de maior discussão pública e divulgação sobre a enurese nocturna e as formas de tratamento, de forma a que mais crianças possam ser tratadas. ABSTRACT Bedwetting (nocturnal enuresis) is a common problem throughout childhood and most of the times is expected to have a spontaneous remission. However bedwetting can have a considerable impact on children and families, affecting a child’s self-esteem and interpersonal relationships, and his or her performance at school. We don’t know much about prevalence, associated factors and the real impact of bedwetting in children of our community. Purpose: To investigate the prevalence of nocturnal enuresis among children in elementary school and to evaluate associated factors, severity and impact in quality of life. Materials and Methods: Fifteen hospitals were enrolled in the study. A randomly selected cross-sectional study was conducted from elementary schools, most at the North but some at the Centre of our country. Questionnaires were anonymously fulfilled by parents at home and then returned to the school. Nocturnal enuresis was defined if a child older than five wets the bed at least once per month. Results: A total of 2104 (62%) questionnaires were completed. The overall prevalence of nocturnal enuresis was 6.9%. The ratio of male to female was about 2.0 (9,4 % vs. 4.3%); 18% were considered secondary enuresis. Of the factors investigated gender, age, heredity, difficulty in waking, urinary frequency or urgency, urinary incontinence and encopresis, showed significant association with enuresis. Previous history of urinary infection, constipation, snoring, hyperactivity, were not associated with enuresis in this study. Children with difficulties in school tend to have enuresis more frequently. Professional help were looked for in only 51% of children with enuresis, most frequently when the impact in quality of life were more perceived. Only onethird of enuretic children received some form of treatment. Conclusion: Our investigation showed the prevalence of enuresis is similar to those reports from most of other western countries, as well the significant reduction of prevalence with growing age. Only half of the children with this problem is brought to medical attention and only a third received treatment. The results point to the necessity of bigger public discussion and information on enuresis and its treatment options in order that more children with this problem have access to professional help.
- A prospective, multicentre study to investigate the efficacy,Publication . MERCADO, M.; BORGES, F.; BOUTERFA, H.; CHANG, T.C.; CHERVIN, A.; FARRALL, A.J.; PATOCS, A.; PETERSENN, S.; PODOBA, J.; SAFARI, M.; WARDLAW, J.; SMS995B2401 STUDY GROUP.Clin Endocrinol (Oxf). 2007 Jun;66(6):859-68. Epub 2007 Apr 25. A prospective, multicentre study to investigate the efficacy, safety and tolerability of octreotide LAR (long-acting repeatable octreotide) in the primary therapy of patients with acromegaly. Mercado M, Borges F, Bouterfa H, Chang TC, Chervin A, Farrall AJ, Patocs A, Petersenn S, Podoba J, Safari M, Wardlaw J; SMS995B2401 Study Group. SourceHospital de Especialidades, Centro Medico Nacional Siglo XXI, IMSS, Mexico City, Mexico. moises.mercado@imss.gob.mx Abstract OBJECTIVE: To evaluate the efficacy, safety and tolerability of octreotide LAR (long-acting repeatable octreotide) in the primary therapy of acromegaly. DESIGN AND PATIENTS: Ninety-eight previously untreated acromegalics were recruited into this prospective multicentre study. A total of 68 patients successfully completed 48 weeks of the study period, received 12 doses of octreotide LAR 10-30 mg every 4 weeks, and constituted the population used for this analysis. MEASUREMENTS AND RESULTS: A clinically relevant reduction (i.e. to < or = 5 microg/l) in mean GH (mGH) was recorded in 72% of patients after 24 weeks of treatment, and 42% reached a 'safe' GH value (< or = 2.5 microg/l). At week 48, 16 more patients were considered partial GH responders (GH > 2.5 microg/l and < or = 5 microg/l) and 44% had reached a GH level < or = 2.5 microg/l. IGF-1 levels normalized in 38% and 34% of patients after 24 and 48 weeks of treatment, respectively. At study completion, 10 patients (14.7%) who had not normalized their IGF-1 levels had achieved at least a 50% decrement in this marker. In eight microadenoma patients, tumour volume decreased from a mean baseline level of 298 +/- 145 mm3 to 139 +/- 94 mm3 after 24 weeks and to 99 +/- 70 mm3 after 48 weeks of therapy. In 60 patients with macroadenoma, the corresponding values were 3885 +/- 5077 mm3 at baseline and 2723 +/- 3435 and 2406 +/- 3207 mm3 after 24 and 48 weeks, respectively. At weeks 24 and 48, a significant (> 20%) tumour volume reduction was reported in 63% and 75% of patients, respectively. A reduction in the severity of symptoms of acromegaly was observed early in treatment and was maintained throughout the study period. CONCLUSION: Octreotide LAR represents a viable alternative to surgery for primary treatment of acromegaly leading to a progressive regression of tumour volume, a sustained control of biochemical abnormalities and an adequate relief of symptoms of the disease.
- Doença da Inclusão das Microvilosidades: A importância do trabalho de enfermagem na doença crónica gravePublication . Oliveira, A.; Nascimento, H.; Monteiro, J.; Mendonça, J.A doença da inclusão das microvilosidades é um distúrbio congénito das células epiteliais do intestino, que se manifesta essencialmente por diarreia aquosa persistente desde o primeiro dia de vida. É um distúrbio raro, de etiologia desconhecida, de provável transmissão autossómica recessiva (AR). Não existe terapêutica curativa, o que torna estas crianças totalmente dependentes de nutrição parentérica total. Com o transplante de intestino delgado, quando bem sucedido nasce uma nova esperança para a resolução desta patologia. O papel do enfermeiro é essencial no apoio psicológico aos pais, nos ensinos relativamente ao manuseamento do cateter venoso central e na administração da nutrição parentérica total. ABSTRACT The microvillus inclusion disease is a congenital disorder of the intestine epithelial cells that present essentially by persistent watery diarrhea since the first day of life. It is a rare disorder of unknown etiology probably transmitted as an autossomal recessive trait. No curative therapy exists and children with this disease become totally dependent of parenteral nutrition. With the small bowel transplantation, when well succeeded, a new hope is born for the resolution of this pathology. The nurse’s role is essential on the psychological support of the parents, as well as teaching how to manoeuvre the central venous catheter and the administration of the parenteral nutrition.
- In utero topographic analysis of astrocytes and neuronal cells in the spinal cord of mutant mice with myelomeningocele.Publication . Reis, J.L.; Correia-Pinto, J.; Monteiro, M.P.; Hutchins, G.M.Abstract OBJECT: Myelomeningocele (MMC) is the most severe form of spina bifida causing severe neurological deficits. Injury to the placode has been attributed to in utero aggression. In this study, glial and neuronal cell changes in both number and topography in mice with MMC were investigated during gestation. METHODS: The curly tail/loop-tail mice model of MMC was used, and fetuses were harvested using caesarean surgery at Days 14.5, 16.5, and 18.5 (full gestation at 19 days). Immunohistochemical analyses of the MMC placodes and the normal spinal cords from the control group were performed using anti-glial fibrillary acidic protein (astrocytes) and mouse anti-neuronal nuclear (neurons) antibodies. Light microscopy was used along with computer-assisted morphometric evaluation. Progressive increases in astrocytes in the spinal cord of all mouse fetuses were found between Days 14.5 and 18.5 of gestation. This increase was significantly higher in the placodes of mice with MMC than in those of normal mice, particularly in the posterior region. Neuronal labeling at Day 14.5 of gestation was similar between mice with MMC and control mice. At Day 16.5 of gestation there was a deterioration of neural tissue in MMC fetuses, mainly in the posterior region, progressing until the end of gestation with a marked loss of neurons in the entire MMC placode. CONCLUSIONS: This study delineated the quantitative changes in astrocytes and neurons associated with MMC development during the late stages of gestation. The detailed topographic analysis of the MMC defines the timing of the intrauterine insult and how the placode lesions progress. This study supports the current concept of placode protection through in utero surgery for fetuses with MMC. PMID: 17566405 [PubMed - indexed for MEDLINE]
- Clinical phenotypes of Cerebral Amyloid AngiopathyPublication . MAIA, L.; MACKENZIE, IR.; FELDMAN, HH.J Neurol Sci. 2007 Jun 15;257(1-2):23-30. Epub 2007 Mar 6. Clinical phenotypes of Cerebral Amyloid Angiopathy. Maia LF, Mackenzie IR, Feldman HH. Source Department of Neurology, Hospital Geral Santo António, Porto, Portugal. Abstract The term Cerebral Amyloid Angiopathy (CAA) is used to describe the pathological changes occurring in cerebral blood vessels, both leptomeningeal and cortical that result from the deposition of amyloid proteins. This CNS vasculopathy is associated with a spectrum of clinical phenotypes that include both ischemic and hemorrhagic presentations. Dementia, cognitive impairment and transient neurological symptoms or signs are also being increasingly recognized as part of the CAA clinical spectrum. This review covers the clinical, pathological and neuroimaging aspects of CAA.
- O ser humano e a busca do segredo da vidaPublication . Figueiredo, H.Compreender o que é a Vida ou o Homem, responder à questão mais radical da nossa existência, sempre foi o desejo mais íntimo da humanidade. A partir do nascimento da primeira criança por fertilização in vitro em 1978 e dos progressos das técnicas de reprodução assistida, levantaram-se inúmeros dilemas éticos para os quais não há, ainda hoje, soluções. Devemos prestar atenção sobre o significado a dar à procriação, e mais ainda às técnicas de procriação assistida. Devemos respeitar a vida do ser concebido, tanto no estádio embrionário como em estádios de desenvolvimento. Ao estarem hoje disponíveis numerosas tecnologias da reprodução, devemos ter em conta que só é ética a reprodução humana se em todos os seus passos se respeitar as exigências da dignidade da pessoa humana. ABSTRACT To understand what life or a human being are and to answer to the most radical question of ever, has always been the wish of humanity. Since the birth of Louise Brown after in vitro fertilization in 1978, and the progress of assisted reproduction technologies, many ethical dilemmas have been raised, for witch we have no answers even today. We must know clearly what we want about reproduction, and more about assisted reproduction technologies. The human being must be respected and protected from the moment of conception and thereafter. Human reproduction is ethically accepted if we want respect for Human Life on its Origin and Dignity.
- Infecção pelo vírus de imunodeficiência humana na criança - aspectos psicossociaisPublication . Fontes, C.; Marques, L.; Santos, M.C.As autoras têm-se confrontado com os problemas psicossociais apresentados pelas crianças e jovens infectados pelo vírus da imunodeficiência humana (VIH), acompanhados na consulta das Doenças Imunológicas do Hospital de Crianças Maria Pia. Face à natureza e particularidades dos problemas, que abrangem toda a família, decidiram proceder a uma revisão bibliográfica dos problemas psicológicos, psiquiátricos e do neurodesenvolvimento que podem surgir nestas crianças; a questão do segredo e da revelação do diagnóstico à criança e jovem são aspectos valorizados nesta pesquisa. ABSTRACT The authors have faced complex psychosocial issues from children and adolescents infected with the human immunodeficiency virus (HIV) followed at the Immunodeficiency Clinics in Maria Pia Children´s Hospital in Porto – Portugal. The nature and particularities of problems that overwhelm these families have led the authors to proceed to a biblyographic review of the psychological, psychiatric and neurodevelopment aspects of these children. Secrecy and diagnostic disclosure issues are particularly emphasised.
- Perfil do grande queimado em cuidados intensivos pediátricos - Experiência de doze anosPublication . Soares, M.; Valente, P.; Vale, M.C.; Estrada, J.; Ventura, L.; Barata, D.; Vasconcelos, C.Introdução: Nos países industrializados cerca de 1% da população requer anualmente tratamento médico por queimadura e 5% destes obrigam a internamento hospitalar. Objectivo: Caracterizar o perfil nosodemográfico do grande queimado pediátrico internado na Unidade de Cuidados Intensivos Pediátricos (UCIP) do Hospital de Dona Estefânia (HDE). População e Métodos: Efectuou-se estudo retrospectivo através da consulta dos processos de todas as crianças internadas por queimadura na UCIP do HDE no período compreendido entre Abril de 1991 e Outubro de 2004. Resultados: Neste período ocorreu um total de 90 internamentos, correspondendo a 80 crianças, sendo 10 referentes a reinternamentos. Os agentes causais foram o fogo em 26 casos (32,5%) e o líquido quente e a corrente eléctrica em 23 (28,8%) casos cada. O maior número de queimaduras ocorreu no grupo etário dos 1 aos 6 anos (n=46). A média da área de superfície corporal queimada foi de 29,6% ± 25,6. Trinta e oito porcento das crianças foram submetidas a suporte ventilatório. Os doentes com queimaduras provocadas pelo fogo apresentaram uma maior área de superfície corporal queimada (45,7 ± 24,7%), uma maior demora de internamento na UCIP (412,5 ± 658,4 horas), um maior índice de intervenção terapêutica (TISS 35,7±9,7) e a uma maior mortalidade. As queimaduras provocadas por corrente eléctrica tiveram menor gravidade. Observaram-se 6 óbitos, todos causados por sépsis. Conclusão: O agente causal mais frequente de queimadura foi o fogo. Mais de metade das crianças internadas por queimadura pertencia ao grupo etário dos 1 aos 6 anos. A principal causa de morte foi a infecção. ABSTRAT Background: In industrialised countries, up to 1% of a population requires medical treatment each year due to burn injury, and 5% of these patients require hospitalization. Objective: To evaluate the characteristics of the paediatric severe burned patients admitted to the Paediatric Intensive Care Unit (PICU) of Dona Estefânia Hospital (HDE). Patients and Methods: Data were collected by the retrospective review of medical record of burn children who were hospitalized in the PICU of HDE, between April 1991 and October 2004. Results: During this period 90 patients were admitted, 10 of then being readmissions. The leading agents were fire in 26 patients (32,5%) followed by hot liquids and electricity in 23 patients (28,8%) each. The highest incidence of paediatric burn were in children aged 1-6 years (n=46). The mean total body surface area burned was 29,6% ± 25,6. Thirty-eight percent of the children were submitted to mechanical ventilation. Fire burn patients presented with a higher total body surface area burned (45,7 ± 24,7%), a higher average durations of PICU length of stay (412,5 ± 658,4 hours), a higher Therapeutic Intervention Scoring System (TISS 35,7±9,7) and mortality. The electrical burns were less severe. There were 6 deaths all caused by sepsis. Conclusions: Fire was the most frequent burn agent. More than half of the children admitted were aged 1-6 years. Infection was the leading cause of mortality.
- Transvesical thoracoscopy: a natural orifice translumenal endoscopic approach for thoracic surgeryPublication . LIMA, E.; HENRIQUES‐COELHO, T.; ROLANDA, C.; PÊGO, J.M.; SILVA, D.; CARVALHO, J.L.; CORREIA‐PINTO, J.Surg Endosc. 2007 Jun;21(6):854-8. Epub 2007 May 4. Transvesical thoracoscopy: a natural orifice translumenal endoscopic approach for thoracic surgery. Lima E, Henriques-Coelho T, Rolanda C, Pêgo JM, Silva D, Carvalho JL, Correia-Pinto J. Life and Health Sciences Research Institute (ICVS), School of Health Sciences, University of Minho, Braga, Portugal. Abstract BACKGROUND: Recently there has been an increasing enthusiasm for using natural orifices translumenal endoscopic surgery (NOTES) to perform scarless abdominal procedures. We have previously reported the feasibility and safety of the transvesical endoscopic peritoneoscopy in a long-term survival porcine model as useful for those purposes. Herein, we report our successful experience performing transvesical and transdiaphragmatic endoscopic approach to the thoracic cavity in a long-term survival study in a porcine model. METHODS: Transvesical and transdiaphragmatic endoscopic thoracoscopy was performed in six anesthetized female pigs. A 5 mm transvesical port was created on the bladder wall and an ureteroscope was advanced into the peritoneal cavity. After diaphragm inspection, we introduced through the left diaphragmatic dome a ureteroscope into the left thoracic cavity. In all animals, we performed thoracoscopy as well as peripheral lung biopsy. Animals were sacrificed by day 15 postoperatively. RESULTS: We easily introduced a 9.8 Fr ureteroscope into the thoracic cavity that allowed us to visualize the pleural cavity and to perform simple surgical procedures such as lung biopsies without complications. There were neither respiratory distress episodes nor surgical complications to report. Postmortem examination revealed complete healing of vesical and diaphragmatic holes, whereas no signs of infection or adhesions were observed in the peritoneal or thoracic cavities. CONCLUSION: This study demonstrates the feasibility of transvesical thoracoscopy in porcine model. However, although this study extends the potential applications of NOTES to the thoracic cavity, new instruments and further work are needed to provide evidence that this could be translated to humans and with advantages for patients. PMID: 17479317 [PubMed - indexed for MEDLINE]