Search

INTRODUCTION: Type 1 diabetes is a chronic disease characterized by a selective loss of pancreatic ?-cells with a disproportionate recent increase at ages under 5-years old. Its etiology is multifactorial, to which immune factors contribute through pancreatic autoantibodies. Our main aim is to assess whether the type of pancreatic autoantibody influence the clinical symptoms, glycated hemoglobin and glycemia at diagnosis of type 1 diabetes in children diagnosed under ten-years of age. METHODS: Observational, retrospective and analytical study carried out with a total of 95 patients included. We compared two groups (aged ?60 months and >60 months) and each type of autoantibody (positive/negative) regarding demographic, immune, clinical and laboratory characteristics. The autoantibodies studied were islet cell autoantibodies (against cytoplasmic proteins in the ?-cell), antibodies to glutamic acid decarboxylase, anti-insulin and anti-zinc transporter 8. The impact of autoimmunity, glycated hemoglobin, gender and age on clinical and laboratory parameters of these children was analyzed. RESULTS: Children diagnosed over 60 months had a higher glycated hemoglobin value (p=0.005) and this laboratory parameter was the only one that showed an impact on the initial presentation as diabetic ketoacidosis (CI95%: OR=1.66;p=0.001). The value of glycemia at admission showed to be influenced negatively by age (?=--0.25;p=0.022) and positively by glycated hemoglobin (?=0.35;p=0.001). None of the autoantibodies evaluated seemed to interfere in the clinical and laboratory manifestations of type 1 diabetes. CONCLUSION: Demographic, clinical and laboratory characteristics showed no statistically significant differences between two groups of positive/negative pancreatic autoantibodies analyzed. It is crucial to develop further studies in the scope of autoimmunity that allow to structure potential immune phenotypes and assist in the discovery of new therapeutic targets.

ABSTRACT Objectives: Evaluate the celiac disease (CD) markers, within the scope of its screening, in a pediatric population with diagnosis of type 1 diabetes (T1D) at Hospital de Braga (HB) and determine the prevalence of CD in the sample. Reflect on CD screening algorithm applied in this pediatric population. Subjects and methods: Retrospective observational study with 94 patients diagnosed with T1D at age 10 years or younger, followed up at the HB Outpatient Diabetology Consultation, including those referred from other hospitals. Record of clinical information, IgA anti-transglutaminase and anti-endomysium and HLA DQ2/DQ8 haplotypes. Results: We obtained positive serological test for CD in 4 patients. This test had 100% sensitivity and specificity. The prevalence of CD was 4.3% (n = 4). Positive HLA screening in 84.6% of patients, with both sensitivity and negative predictive value of 100% and specificity of 16.67%. Diagnosis of CD was made on average 3.40 ± 3.32 years after the diagnosis of TD1. All cases of CD registered non-gastrointestinal manifestations, none had gastrointestinal symptoms. Conclusion: This study proved that there is a higher prevalence of CD in pediatric population with TD1, when compared to general population, and clarified the importance of CD screening. Furthermore, it was observed that serological screening for CD antibodies is an excellent screening test and HLA typing, although not the most suitable first line test, can be useful in excluding the possibility of patients with T1D developing CD.

Abstract Introduction: Atypical hemolytic uremic syndrome (aHUS) is a rare disorder characterized by the triad of microangiopathic hemolytic anemia, thrombocytopenia, and acute kidney injury, which primarily affects preschool-aged children. This study’s aim was to describe the clinical profile, management, and long-term outcome of the genetic aHUS patients admitted to a tertiary care pediatric nephrology center during 20 years. Methods: We performed a retrospective analysis of the clinical records of all aHUS patients younger than 18 years with identified genetic mutations. Data on clinical features, genetic study, therapeutic interventions, and long-term outcomes were reviewed. Results: Five cases of aHUS with an identified genetic mutation were included; all were inaugural cases with the youngest being 4 months old. Complement factor H gene mutation was identified in four patients. Therapeutic plasma exchange was performed for acute management in 4 patients, one of whom also needed acute renal replacement therapy (peritoneal dialysis). All patients went on complete remission, 2 had more than one relapse but only 1 of these progressed to chronic kidney disease during the follow-up period (median (25th-75th percentile), 136 (43.5-200.5) months). Conclusion: In children, the prognosis of renal function seems to be strongly dependent on the genetic background, thus being crucial to perform genetic study in all aHUS cases. In our cohort, 2 patients presented genetic mutations not previously described. Recent innovations on the genetic field leading to the identification of new mutations has lead to a better understanding of aHUS pathogenesis, but further studies, focusing on the genotype-phenotype correlation, with longer follow-up periods, are needed.

INTRODUÇÃO: A púrpura de Henoch-Schönlein (PHS) caracteriza-se por púrpura palpável associada a dor abdominal, artralgia ou atingimento renal. A variante bolhosa é rara em pediatria, geralmente com bom prognóstico. CASO CLÍNICO: Menino de 3 anos e 8 meses com febre e lesões purpúricas que evoluíram para púrpura palpável e edema tibiotársico bilateral com limitação da marcha. Por persistência de febre, agravamento das lesões cutâneas com aparecimento de vesículas, bolhas purpúricas e ulcerações, edema articular com incapacidade para a marcha e para ortostatismo e dor abdominal, foi reavaliado no serviço de urgência. Analiticamente proteína C reativa 29 mg/L e albumina 3 g/dL, sem outras alterações. Decidido internamento sob amoxicilina/ácido clavulânico e metilprednisolona. Apresentou boa evolução clínica, mantendo lesões cicatriciais e manchas hiperpigmentadas. DISCUSSÃO: A púrpura de Henoch-Schönlein bolhosa é rara em idade pediátrica e um desafio diagnóstico. A corticoterapia pode ser benéfica em alguns casos, sendo necessários mais estudos que corroborem a sua utilização. Na generalidade dos casos tem bom prognóstico.

INTRODUÇÃO: Os acessos intravasculares são indispensáveis nas unidades de cuidados intensivos neonatais (UCIN) nível III. A monitorização das taxas de infeção é considerada um importante indicador dos cuidados de saúde. O objetivo deste estudo é determinar a incidência atual de infeção associada ao uso de cateter central (CC), comparar os resultados com outras publicações e com um estudo prévio realizado na nossa unidade em 2011. MÉTODOS: Estudo prospetivo realizado de janeiro de 2017 a dezembro de 2019 na UCIN do Hospital de Braga. Incluídos todos os recém-nascidos (RN) com CC colocado na nossa unidade. O diagnóstico microbiológico foi efetuado através de colheita de hemocultura e cultura da ponta do CC. RESULTADOS: Foram colocados 404 CC no total, 138 cateteres umbilicais (CU) e 266 cateteres de inserção percutânea (CIP). A idade gestacional média dos RN foi 30,4 semanas (DP±3,89s), o peso ao nascer médio 1380,03 g (DP±742,68 g), com 76,03% de RN com muito baixo peso. O tempo de permanência médio dos CC foi 11,51 dias (DP±11,08 d). Obtivemos 95 culturas positivas da ponta do CC, 25 (26,32%) de CU e 70 (73,68%) de CIP. De 41 hemoculturas colhidas, 9 foram positivas (21,95%), 2 de RN com CU e 7 de RN com CIP. Os Staphylococcus coagulase-negativos foram os micro-organismos mais frequentemente identificados. A taxa de infeção associada ao uso de CC foi 0,5%. A densidade de incidência de contaminação de CC foi 20,43/1000 dias de CC. DISCUSSÃO: Comparativamente ao estudo de 2011, verifica-se uma melhoria significativa na taxa de infeção associada ao uso de CC. A taxa de infeção e os agentes patogénicos identificados são semelhantes aos de outros estudos publicados.

INTRODUCTION Iron deficiency is the world most prevalent nutritional disorder which is associated with impaired neurocognitive function in infants. The prevalence of iron deficiency anemia (IDA) in Portuguese infants remains unknown. The last study was performed by one of us (HA) in 1994 in a sample of 188 infants revealing a prevalence of IDA of 19%. The main objective of this study is to determine the current prevalence of IDA in a sample of infants nine months of age in Braga, Portugal. METHODS This was a cross-sectional study on a random sample of infants born from September 2016 to February 2017 at Braga Hospital. They were evaluated for anthropometry, socio-economic factors, feeding regime and a blood sample was taken for blood cell counts, serum ferritin and C reactive protein. RESULTS Forty-two infants were included. The prevalence of IDA was 7.1%. Nine infants were anemic (21%); moderate anemia was observed in 2/9 of infants and mild anemia in 7/9 infants. Of the 3 infants with IDA, 2 had been exclusively breastfed until 6 months. CONCLUSIONS Compared to a study from 1994, there may have been a reduction in the prevalence of IDA in this area in Portugal.

As reações adversas medicamentosas correspondem genericamente a uma reação deletéria e não desejada na toma do fármaco, nas doses consideradas adequadas para a idade do doente e para a patologia em questão. O reconhecimento rápido e adequado de reações adversas medicamentosas é imperativo, com importante impacto na morbi-mortalidade do doente. É apresentado o caso clínico de uma adolescente de 17 anos, com aparecimento súbito de exantema morbiliforme exuberante e progressivo, dois dias após ter finalizado ciclo de antibioterapia profilática com amoxicilina/ácido clavulânico, em contexto de gengivectomia eletiva. Internamento durante 4 dias no Serviço de Pediatria sob tratamento sintomático, verificando-se melhoria gradual e progressiva do exantema. O estudo etiológico infecioso e IgE específicas dos antibióticos foram negativos, tendo sido orientada para Consulta Externa de Imunoalergologia para completar estudo alergológico.