Browsing by Author "Costa, M."
Now showing 1 - 10 of 18
Results Per Page
Sort Options
- Anemia ferropriva refratária ao ferro: Uma entidade clínica de descrição e caracterização molecular recentesPublication . Raposo, F.; Melo, T.; Costa, M.; Pereira, M.; Cleto, E.; Costa, E:; Barbot, J.A anemia por défice de ferro é um importante problema de saúde a nível mundial. Até há poucos anos atrás, considerava--se este défice como sendo de natureza exclusivamente adquirida e os erros de metabolismo eram atribuídos unicamente a patologia de sobrecarga. A descoberta da molécula de hepcidina e a descrição e caracterização molecular da anemia ferropriva refratária ao ferro veio contrariar essa anterior convicção. Os autores apresentam os casos clínicos de duas doentes, primas em segundo grau, com diagnóstico de anemia ferropriva refratária ao ferro, com o objetivo de alertar para esta etiologia, aquando do diagnóstico de uma anemia ferropriva de etiologia desconhecida e refratária a terapêutica com ferro oral e endovenoso
- Baixa estatura e haploinsuficiência do gene SHOXPublication . Costa, M.; Magalhães, J.; Ferreira, S.; Rocha, M.; Ribeiro, L.; Oliveira, M.; Cardoso, H.; Borges, T.Introdução: A haploinsuficiência do gene SHOX (short stature homeobox gene) é uma das causas genéticas mais frequentes de baixa estatura isolada ou familiar, cuja gravidade clínica pode ser muito variável. Caso Clinico: Os autores descrevem uma adolescente de 14 anos, com membros curtos e baixa estatura. A radiografia do punho demonstrou deformidade de Madelung. O estudo molecular revelou a deleção do gene SHOX (FISH del (X) (Xp22.3Xp22.3) (SHOX). Um exame físico cuidadoso assume extrema importância na avaliação clínica de baixa estatura. A deformidade de Madelung pode surgir apenas na adolescência. O tratamento com Hormona de Crescimento pode aumentar a estatura final. Discussão/conclusões: A prevalência de baixa estatura por mutações do gene SHOX parece ser semelhante ao défice de hormona de crescimento e Síndroma de Turner. O objetivo dos autores foi chamar a atenção sobre esta entidade clínica não muito conhecida, que pode ter implicações terapêuticas com um diagnóstico atempado.
- Caso electroencefalográfico: esclerose tuberosaPublication . Zenha, R.; Costa, A.; Costa, M.; Rodrigues, M.; Chorão, R.ABSTRACT We present the case of a boy with in utero diagnosis of tuberous sclerosis (TS), suspected by the finding of cardiac rabdomyomas and confirmed by fetal brain MRI with typical subependymal nodules and sucortical tubers. We emphasise that epileptic spasms are very frequent and usually the presenting seizures is TS, as occurred in our patient. Electroencephalogram revealed an atypical hypsarrythmia, and the patient responded to vigabatrin. The need to be aware of this epileptic encephalopathy in TS and the importance of an early treatment are underlined.
- Como transporta os seus filhos?Publication . Borges, A.; Costa, E.; Pinto, M.; Costa, M.RESUMO Os acidentes rodoviários são a principal causa de morte e incapacidade temporária e definitiva em crianças e jovens em Portugal. Objectivo: Caracterizar a forma como os pais transportam os seus filhos em veículos motorizados ao Serviço de Urgência (SU), bem como o grau de informação sobre o transporte, relacionando-o com o perfil sócio-cultural e demográfico da amostra. Material e Métodos: Estudo analítico e aleatório, com base em questionário aplicado aos pais das crianças atendidas no SU do Hospital de São Miguel, sem motivo de urgência/emergência, no período de Novembro de 2003 a Abril de 2004. Para a análise dos resultados foram considerados 4 grupos etários, tendo em conta a forma de transporte seguro (< 18 meses, 18 meses aos 3 anos, 4 aos 6 anos, 7 aos 13 anos). Resultados: Foram obtidos 254 questionários. A média de idades foi de 3 anos e 1 mês (mínima 1 mês e máxima 13 anos), com um predomínio das crianças com idade ≤ 18 meses (39%). A maioria das famílias era de nível social médio baixo (Graffar IV – 51%) ou médio (Graffar III – 33%). O tipo de transporte mais utilizado foi o automóvel (99%). Apenas 35% da amostra estudada transportava as suas crianças de forma correcta, com base nas normas e dispositivos de segurança adequados, actualmente em vigor. A protecção correcta foi mais frequente nas crianças entre os 18 meses e os 3 anos – 54% contra 31% do resto da amostra. Uma maior protecção correcta foi associada aos níveis de escolaridade mais elevados dos progenitores. Apesar de 53 pais terem sofrido algum acidente de viação, apenas 38% consideraram que o acidente teve alguma repercussão na forma como os seus filhos são transportados. É de salientar que 63% dos inquiridos desconhecia qualquer tipo de campanha de prevenção / ensino da forma correcta de transporte das crianças. Comentários e Conclusões: Verificámos que, na amostra estudada, a utilização dos sistemas de retenção de forma correcta e segura para o transporte de crianças é altamente insuficiente, sendo emergente implementar medidas que alterem estes comportamentos. ABSTRACT Road accidents are the main cause of death and of temporary and definitive incapacity in children and youths in Portugal. Objective: To characterize the way parents transport their children in motorized vehicles to the Emergency Department (ED), their knowledge about child passenger safety and the influence of the socio-cultural and demographic profile on their attitude. Material and Methods: Analytical and random study based on a questionnaire applied to the parents of the children that were evaluated in the ED of the Hospital of Sao Miguel, with no urgency or emergency cause of attendance, from November/ 2003 to April/2004. We considered four groups according to the age and the different ways of safe transport (bellow 18 months, 18 months to 3 years, 4 to 6 years, 7 to 13 years). Results: We obtained 254 questionnaires. The average age was 3 years and 1 month (minimum 1 month, maximum 13 years), with a predominance of children aged less than 18 months (39%). The majority of families belonged to low (Graffar IV - 51%) or medium (Graffar III - 33%) social level. The automobile was the most common way of transportation (99%). Only 35% of the studied sample transported their children based on the right legal norms and adequate safety devices. Right protection was more frequent in children between 18 months and 3 years - 54%, versus 31% in the rest of the sample. Better safety procedures were associated with high educational levels of the parents. Fifty-three parents suffered a road accident, however only 38% considered that the accident had some repercussion in the form their children were transported. It is import to point out that 63% of the inquired parents were unaware of any type of campaign of prevention about child passenger safety. Commentaries and Conclusions: In this study, we verified that the use of child restraints in the right and safe way is highly insufficient and it is emergent to implement measures to change these behaviours and prevent children’s death and incapacity.
- Dor Torácica AgudaPublication . Costa, M.; Morais, L.; Ramos, A.; Álvares, S.; Senra, V.; Carvalho, F.; Lencastre, H.
- Effects of highly conserved major histocompatibility complex (MHC) extended haplotypes on iron and low CD8+ T lymphocyte phenotypes in HFE C282Y homozygous hemochromatosis patients from three geographically distant areasPublication . Costa, M.; Cruz, E.; Barton, J.; Thorstensen, K.; Morais, S.; da Silva, B.; Pinto, J.; Vieira, C.; Vieira, J.; Acton, R.; Porto, G.Hereditary Hemochromatosis (HH) is a recessively inherited disorder of iron overload occurring commonly in subjects homozygous for the C282Y mutation in HFE gene localized on chromosome 6p21.3 in linkage disequilibrium with the human leukocyte antigen (HLA)-A locus. Although its genetic homogeneity, the phenotypic expression is variable suggesting the presence of modifying factors. One such genetic factor, a SNP microhaplotype named A-A-T, was recently found to be associated with a more severe phenotype and also with low CD8(+)T-lymphocyte numbers. The present study aimed to test whether the predictive value of the A-A-T microhaplotype remained in other population settings. In this study of 304 HH patients from 3 geographically distant populations (Porto, Portugal 65; Alabama, USA 57; Nord-Trøndelag, Norway 182), the extended haplotypes involving A-A-T were studied in 608 chromosomes and the CD8(+) T-lymphocyte numbers were determined in all subjects. Patients from Porto had a more severe phenotype than those from other settings. Patients with A-A-T seemed on average to have greater iron stores (p = 0.021), but significant differences were not confirmed in the 3 separate populations. Low CD8(+) T-lymphocytes were associated with HLA-A*03-A-A-T in Porto and Alabama patients but not in the greater series from Nord-Trøndelag. Although A-A-T may signal a more severe iron phenotype, this study was unable to prove such an association in all population settings, precluding its use as a universal predictive marker of iron overload in HH. Interestingly, the association between A-A-T and CD8(+) T-lymphocytes, which was confirmed in Porto and Alabama patients, was not observed in Nord-Trøndelag patients, showing that common HLA haplotypes like A*01-B*08 or A*03-B*07 segregating with HFE/C282Y in the three populations may carry different messages. These findings further strengthen the relevance of HH as a good disease model to search for novel candidate loci associated with the genetic transmission of CD8(+) T-lymphocyte numbers.
- Gastroenterite aguda na criança - estudo prospectivo multicêntricoPublication . Valente, I.; Aguiar, A.; Afonso, A.; Coelho, E.; Costa, M.; Aroso, S.; Antunes, H.; Lima, R.
- High germinal instability of the (CTG)n at the SCA8 locus of both expanded and normal allelesPublication . Silveira, I.; Afonso, I.; Guimarães, L.; Mendonça, P.; Santos, C.; Maciel, P.; Matos, J.; Costa, M.; Barbot, C.; Tuna, A.; Barros, J.; Jardim, L.; Coutinho, P.; Sequeiros, J.Abstract The autosomal dominant spinocerebellar ataxias (SCAs) are a group of late-onset, neurodegenerative disorders for which 10 loci have been mapped (SCA1, SCA2, SCA4-SCA8, SCA10, MJD, and DRPLA). The mutant proteins have shown an expanded polyglutamine tract in SCA1, SCA2, MJD/SCA3, SCA6, SCA7, and DRPLA; a glycine-to-arginine substitution was found in SCA6 as well. Recently, an untranslated (CTG)n expansion on chromosome 13q was described as being the cause of SCA8. We have now (1) assessed the repeat size in a group of patients with ataxia and a large number of controls, (2) examined the intergenerational transmission of the repeat, and (3) estimated the instability of repeat size in the sperm of one patient and two healthy controls. Normal SCA8 chromosomes showed an apparently trimodal distribution, with classes of small (15-21 CTGs), intermediate (22-37 CTGs), and large (40-91 CTGs) alleles; large alleles accounted for only0.7% of all normal-size alleles. No expanded alleles (>/=100 CTGs) were found in controls. Expansion of the CTG tract was found in five families with ataxia; expanded alleles (all paternally transmitted) were characterized mostly by repeat-size contraction. There was a high germinal instability of both expanded and normal alleles: in one patient, the expanded allele (152 CTGs) had mostly contraction in size (often into the normal range); in the sperm of two normal controls, contractions were also more frequent, but occasional expansions into the upper limit of the normal size range were also seen. In conclusion, our results show (1) no overlapping between control (15-91) and pathogenic (100-152) alleles and (2) a high instability in spermatogenesis (both for expanded and normal alleles), suggesting a high mutational rate at the SCA8 locus.
- Hímen imperfurado como causa de retenção urinária: a importância do exame físicoPublication . Pinto, M.; Monteiro, J.; Gomes, L.; Ferreira, H.; Gameiro, M.; Costa, M.Introdução: O hímen imperfurado (HI) é a alteração obstrutiva mais frequente do aparelho genital feminino. Estima-se que atinja 1:1000 – 1:10000 meninas. Caso clínico: Descreve-se o caso de uma adolescente de 13 anos, com história de obstipação e escoliose lombar. Recorreu ao Serviço de Urgência (SU) por episódio de retenção urinária, acompanhada de globo vesical. Apresentava uma história de dor hipogástrica com 11 meses de evolução, de carácter cíclico mensal. Referência a polaquiúria e dificuldade em iniciar a micção dois meses antes de recorrer ao SU, e ausência de menarca. O exame objectivo evidenciou estadio pubertário de Tanner 4-5, abaulamento da parede anterior do recto com massa adjacente palpável e protusão do hímen íntegro e imperfurado. Foi diagnosticado HI e hematometrocolpos confirmado por ecografia. Foi submetida a himenotomia, com drenagem de conteúdo hemático abundante, com resolução do quadro clínico. Conclusão: Com este caso clínico, os autores querem salientar que o exame objectivo completo é uma pedra fulcral na avaliação da criança ou adolescente. ABSTRACT Introduction: Imperforate hymen (IH) is the most frequent obstructive anomaly of the female genital tract. It is estimated that occurs in 1:1000 – 1:10000 girls. Case report: We report a case of a 13-year-old girl with a history of constipation and lumbar scoliosis. She presented to the emergency department (ED) with urinary retention and vesical globe. She referred hypogastric pain for 11 months recurring every month. She also referred absence of menarche, and increased urinary frequency and difficulty to start urination for two months. The physical examination showed Tanner pubertal stage 4-5, bulging of the anterior wall of the rectum with palpable adjacent mass and protrusion of intact and imperforate hymen. Imperforated hymen and hematometrocolpos were diagnosed, confirmed by ultrasound. Hymenotomy and drainage of abundant hematic secretions were performed with resolution of her symptoms. Conclusion: With this case, the authors want to emphasize the importance of a complete physical examination in a child or adolescent.
- Impact of preformed donor-specific antibodies against HLA class I on kidney graft outcomes: Comparative analysis of exclusively anti-Cw vs anti-A and/or -B antibodiesPublication . Santos, S.; Malheiro, J.; Tafulo, S.; Dias, L.; Carmo, R.; Sampaio, S.; Costa, M.; Campos, A.; Pedroso, S.; Almeida, M.; Martins, L.; Henriques, C.; Cabrita, A.AIM: To analyze the clinical impact of preformed antiHLA-Cw vs antiHLA-A and/or -B donor-specific antibodies (DSA) in kidney transplantation. METHODS: Retrospective study, comparing 12 patients transplanted with DSA exclusively antiHLA-Cw with 23 patients with preformed DSA antiHLA-A and/or B. RESULTS: One year after transplantation there were no differences in terms of acute rejection between the two groups (3 and 6 cases, respectively in the DSA-Cw and the DSA-A-B groups; P = 1). At one year, eGFR was not significantly different between groups (median 59 mL/min in DSA-Cw group, compared to median 51 mL/min in DSA-A-B group, P = 0.192). Moreover, kidney graft survival was similar between groups at 5-years (100% in DSA-Cw group vs 91% in DSA-A-B group, P = 0.528). The sole independent predictor of antibody mediated rejection (AMR) incidence was DSA strength (HR = 1.07 per 1000 increase in MFI, P = 0.034). AMR was associated with shortened graft survival at 5-years, with 75% and 100% grafts surviving in patients with or without AMR, respectively (Log-rank P = 0.005). CONCLUSION: Our data indicate that DSA-Cw are associated with an identical risk of AMR and impact on graft function in comparison with "classical" class I DSA.