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- Atenção primária à saúde no Rio de Janeiro – o que há de diferente?Publication . Forno, Andreia; Hakme, Pedro
- CELIAC DISEASE IN CHILDREN FROM MADEIRA ISLAND AND ITS PREVALENCE INPublication . Oliveira, Joana Raquel Henriques; CABRAL, António Jorge; FERREIRA, Elena; CAPELINHA, Filipa; SPÍNOLA, HélderABSTRACT - Context - It is well recognized that celiac disease is an immune-mediated systemic disorder highly prevalent among relatives of celiac patients. Objectives - The aim of this study is to determine the prevalence of celiac disease in a group of first egree relatives of celiac children, and to access the frequency of human leukocyte antigen HLA-DQ2 and DQ8 in celiac disease patients and their affected relatives. Methods - A survey was conducted of 39 children with celiac disease with follow-up in the Pediatric outpatient’s clinic of Dr. Nélio Mendonça Hospital, in Madeira Island, Portugal. Were invited 110 first degree relatives to undergo serological screen for celiac disease with IgA antibody to human recombinant tissue transglutaminase (IgA-TGG) quantification. In all seropositive relatives, small intestinal biopsy and HLA typing was recommended. Results - HLA- typing was performed in 38 celiac patients, 28/74% DQ2 positive, 1/2% DQ8 positive and 9/24% incomplete DQ2. Positive IgA-TGG was found in five out of the 95 relatives, and CD was diagnosed in three of them. Three relatives had the presence of HLA-DQ2, two were DQ2 incomplete (DQB1*02). Conclusion - The prevalence of celiac disease among first degree celiac patients´ relatives was 3.1%, 4.5 times higher than the general Portuguese population (0,7%) witch reinforces the need of extensive diagnostic screening in this specific group. HLA-DQ2 typing may be a tool in the diagnostic approach.
- Celiac disease in children from Madeira island and its prevalence in first degree relativesPublication . Oliveira, Joana Raquel Henriques; Cabral, António Jorge; Ferreira, Elena; Capelinha, Filipa; Spínola, Hélder; Gonçalves, RuteIt is well recognized that celiac disease is an immune-mediated systemic disorder highly prevalent among relatives of celiac patients.
- Chediak–Higashi syndrome: Lessons from a single-centre case seriesPublication . Carneiro, I. Marques; Rodrigues, A.; Pinho, L.; de Jesus Nunes-Santos, C.; de Barros Dorna, M.; Moschione Castro, A.P.B.; Pastorino, A.C.Chediak–Higashi syndrome (CHS) is a rare and potentially fatal autosomal recessive disease characterized by frequent bacterial infections, bleeding tendency, oculocutaneous albinism, photosensitivity and progressive neurologic dysfunction. Owing to the rarity of this condition, the objective of this study was to describe patients with CHS. Methods Retrospective evaluation of patients followed in a paediatric tertiary centre of Allergy and Immunology of São Paulo, Brazil, between 1986 and 2018 with a confirmed diagnosis of CHS. Data were obtained from medical records. Demographic aspects, family history, clinical findings, laboratory data, diagnosis, treatment and outcome were described. Results A total of 14 patients (five male) were included. Clinical manifestations were first recognized at a median age of two months (at birth-20 months). Median age at diagnosis was 1.7 years (0–5 years). All patients had recurrent infections. Albinism was present in 13 patients and silvery or light hair was present in 14. Seven patients developed hemophagocytic lymphohistiocytosis (HLH); the median age at the diagnosis of HLH was 5.7 years (2.6–6.7 years) and the median interval between the diagnosis of CHS and HLH was 3.3 years (0–5 years). Four of the most recently diagnosed patients underwent bone marrow transplantation (BMT). Nine patients are deceased, and one was lost to follow-up. The median age of death was 6.7 years (3.8–22 years). Five patients died of HLH, one of lymphoma, and three of infection. All the patients who had HLH before the year of 2000 died of HLH. The two most recently diagnosed patients with HLH were able to cure the HLH, although they died of other causes. Four patients are alive, three of them after successful BMT. Conclusion Thirty years of follow up showed an improvement in the prognosis in patients with CHS. The better understanding of the underlying biological mechanisms of HLH allowed the standardization of management protocols, resulting in survival improvement. BMT is the only treatment that can change CHS prognosis, which emphasizes the need for early identification of the disease.
- Clinical rating scale for pantothenate kinase-associated neurodegeneration: A pilot studyPublication . Darling, Alejandra; Tello, Cristina; Martí, María Josep; Garrido, Cristina; Aguilera-Albesa, Sergio; Tomás Vila, Miguel; Gastón, Itziar; Madruga, Marcos; González Gutiérrez, Luis; Ramos Lizana, Julio; Pujol, Montserrat; Gavilán Iglesias, Tania; Tustin, Kylee; Lin, Jean Pierre; Zorzi, Giovanna; Nardocci, Nardo; Martorell, Loreto; Lorenzo Sanz, Gustavo; Gutiérrez, Fuencisla; García, Pedro J.; Vela, Lidia; Hernández Lahoz, Carlos; Ortigoza Escobar, Juan Darío; Martí Sánchez, Laura; Moreira, Fradique; Coelho, Miguel; Correia Guedes, Leonor; Castro Caldas, Ana; Ferreira, Joaquim; Pires, Paula; Costa, Cristina; Rego, Paulo; Magalhães, Marina; Stamelou, María; Cuadras Pallejà, Daniel; Rodríguez-Blazquez, Carmen; Martínez-Martín, Pablo; Lupo, Vincenzo; Stefanis, Leonidas; Pons, Roser; Espinós, Carmen; Temudo, Teresa; Pérez Dueñas, BelénPantothenate kinase-associated neurodegeneration is a progressive neurological disorder occurring in both childhood and adulthood. The objective of this study was to design and pilot-test a disease-specific clinical rating scale for the assessment of patients with pantothenate kinase-associated neurodegeneration.
- Congenital medium sternal cleft with partial ectopia cordis repairPublication . Sousa, P. R.; Antunes, S.; Couto, A.; Santos, G. C.; Leal, L. G.; Magalhaes, M. P.; Madeira Island, Região Autónoma da Madeira; PortugalCongenital sternal malformation is a rare anomaly often diagnosed as an asymptomatic condition at birth. The authors report a clinical case of a full-term female neonate with congenital sternal cleft and partial ectopia cordis. Successful surgical repair was accomplished at 6 days of age. When surgery is performed shortly after birth, the procedure is easier and better results are achieved.
- Copper Toxicity Associated With an ATP7A-Related Complex PhenotypePublication . Natera-de Benito, Daniel; Sola, Abel; Sousa, Paulo Rego; Boronat, Susana; Expósito-Escudero, Jessica; Carrera-García, Laura; Ortez, Carlos; Jou, Cristina; Muchart, Jordi; Rebollo, Monica; Armstrong, Judith; Colomer, Jaume; Garcia-Cazorla, Àngels; Hoenicka, Janet; Palau, Francesc; Nascimento, AndresThe ATP7A gene encodes a copper transporter whose mutations cause Menkes disease, occipital horn syndrome (OHS), and, less frequently, ATP7A-related distal hereditary motor neuropathy (dHMN). Here we describe a family with OHS caused by a novel mutation in the ATP7A gene, including a patient with a comorbid dHMN that worsened markedly after being treated with copper histidinate.
- Dengue em Portugal – Experiência da Região Autónoma da madeiraPublication . Castro, Leonor; Marçal, Filipa; Goncalves, Jenny F; Oliveira, Joana; Miranda, Victor; Freitas, Cristina; Barros, Andreia; Freitas, PedroIntroduction: Dengue is a self-limited viral disease, transmitted by infected Aedes mosquitoes. The introduction of the vector to the island of Madeira raised the menace of an epidemic outbreak. Despite the implementation of vector control measures, the first dengue outbreak was reported eight years after the first detection of the vector in the region. The objective of this study was to characterize cases in paediatric ages during the first outbreak of dengue in Madeira. Methods: We performed a retrospective, observational, descriptive study including children aged 0 to 14 years with laboratory confirmed dengue. Clinical, demographic and laboratory variables were characterized, followed by statistical analysis.Results: One hundred and eighty-two cases were confirmed by laboratory methods, predominantly male, mean age 9.6 years. The incidence was 413.5/100 000 population, the peak incidence being observed in November 2012. The most frequently described symptoms were fever (98.3%), headache (75.2%), myalgia (66.5%) and rash (51.6%). Bleeding was identified in 9.9% of cases. Of the paediatric cases,15.9% were admitted, with a mean duration of 3.8 days. No deaths were reported. Only the DEN-1 serotype was identified. Conclusions: The high density of the vector, together with susceptible hosts, may have triggered the outbreak following the introduction of the virus in the region. Given the possibility of a new outbreak, and since immunity is specific to the infecting serotype, vector management strategies and individual protection measures must be sustained.
- Diffuse infantile hepatic haemangioma—how to manage an incidental but potentially lethal findingPublication . Rodrigues, Alexandra; Forno, Andreia; Costa, Edite; Berenguer, Alberto; Pilar, Carla; Loureiro, Rui; Rufino, Duarte; Barros, Andreia; Teixeira, FilomenaInfantile hepatic haemangioma (IHH) is a rare vascular tumour that is potentially lethal due to its associated complications, including heart failure, hepatic failure, hypothyroidism and abdominal compartment syndrome. The authors report a case of an asymptomatic diffuse IHH in a newborn male, which was presented as an incidental finding at the time that the patient was diagnosed with pyloric stenosis. The patient was treated with increasing doses of propranolol that were well tolerated. With the regression of the IHH by the time that the patient reached one year of age, there was a significant imagiologic improvement. Because there is no consensus on the optimal approach for the treatment of liver tumours in newborns, it is important to adopt a systematic approach. After the diagnosis of diffuse IHH has been established, the decision to initiate treatment and the therapeutic of choice is often controversial. Regular follow-up is recommended to monitor possible complications.
- A evolução do refluxo vesico-ureteral com diagnóstico perinatalPublication . Leitão, Henrique; Correia, António Jorge; Gomes, Clara; Oliveira, Oliveira; Rolo, Vitor; Mimoso, Gabriela; Ramos, ConceiçãoResumo.Avaliar a evolução e tratamento do refluxo vesico--ureteral congénito (RVU) em recém-nascido ou lactente com diagnóstico pré-natal de anomalia nefro-urológica. Métodos. Estudo de coortes históricas de crianças com o diagnóstico perinatal de RVU, nascidas numa maternidade de apoio perinatal diferenciado da Região Centro do País, entre 1993 e 2002, e posteriormente acompanhadas no hospital pediátrico de referência da mesma Região. Dividimos as crianças em duas coortes, aquelas que efectuaram tratamento cirúrgico e aquelas em que foi decidido manter vigilância. Para cada coorte (se aplicável) avaliámos: sexo, o tipo e grau de RVU, tipo de cirurgia, complicações, frequência e tempo de evolução até à cura espontânea. Na coorte das crianças em vigilância comparámos a proporção de crianças que mantiveram RVU com aquelas em que se verificou cura espontânea, relativamente ao sexo e ao grau de RVU. Resultados. Oitenta e duas crianças cumpriam os critérios de inclusão. O RVU congénito foi mais frequente no sexo masculino (77%) e era maioritariamente unilateral (65%). O tratamento cirúrgico foi efectuado em 35% dos casos, sobretudo nas crianças com RVU bilateral, com unidades refluxivas (UR) de grau elevado – IV ou V - (80% vs. 12% na coorte de crianças em vigilância) e em crianças com lesão/malformação renal (ipsilateral ou contralateral) e/ou assimetria funcional renal (58% vs 24% na coorte de crianças em vigilância). Neste último grupo, verificámos uma frequência de resolução do RVU de 72% (76% no subgrupo que foi acompanhado pelos menos 48 meses). O período entre os 24 e os 36 meses foi aquele em que ocorreu o maior número de resolução de casos. Não encontrámos diferenças significativas entre sexo e grau de RVU no que respeita à cura espontânea do RVU. Conclusões. O refluxo vesico-ureteral tende a resolver-se nos primeiros anos de vida, parecendo a profilaxia e vigilância clínica medidas suficientes e seguras no casos de refluxo de baixo grau e, provavelmente, também nos casos mais graves.
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