Search

Type 1 pseudohypoaldosteronism (PHA-1) is a rare genetic syndrome of unresponsiveness to aldosterone and presents in the neonatal period with hyperkalemia, hyponatremia and metabolic acidosis. The mortality rate can be high and multidisciplinary team is needed for optimal management and adequate growth and development of these patients. Many genotype-phenotype correlations remain uncertain, and the description of the evolution of cases can increase scientific knowledge about the psychomotor development and severity of the different mutations. We report the follow-up for the last 10 years of a patient, with previously unrecognized genetic findings identified. In addition, we reviewed the literature and compared it with other pediatric cases.

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.

Type 1 pseudohypoaldosteronism (PHA-1) is a rare genetic syndrome of unresponsiveness to aldosterone and presents in the neonatal period with hyperkalemia, hyponatremia and metabolic acidosis. The mortality rate can be high and multidisciplinary team is needed for optimal management and adequate growth and development of these patients. Many genotype-phenotype correlations remain uncertain, and the description of the evolution of cases can increase scientific knowledge about the psychomotor development and severity of the different mutations. We report the follow-up for the last 10 years of a patient, with previously unrecognized genetic findings identified. In addition, we reviewed the literature and compared it with other pediatric cases.

Introduction The prevalence of neonatal hyperthyroidism (HN) due to maternal Graves Disease (GD) ranges from 0.1 to 2.7%. It may occur in pregnant women with the following: active DG, after treatment with radioactive iodine, anti-thyroid or thyroidectomy or with a previous child with hyperthyroidism. The aim of our observational study was to evaluate the follow-up of infants born to mothers with GD at a Tertiary Hospital prior to the implementation of a follow-up protocol. Methods This was a retrospective observational study using data from the medical records of mothers with a diagnosis of GD and their newborns from January 2013 until May 2018. Newborns were divided into two groups: high and low risk for NH according to maternal TRAb, third trimester treatment and signs of fetal hyperthyroidism. Results We identified 31 newborns, 58% female; 87% high risk. In none of the newborns was umbilical cord blood collected. In the high risk group, 22% had thyroid function evaluation at day-1, one patient presented with hyperthyroidism and 82% were asymptomatic. Considering the cases with an insufficient blood sample for analysis, 9 consultations would have been spared. We found a significant delay in obtaining the high-risk group results which would have spared 10 appointments. A positive correlation was found between age at outpatient clinic discharge and the number of appointments and the maternal TRAb titer. Conclusion The correct surveillance of pregnancy and newborns with identification of those at high risk is essential to avoid unnecessary consultations and blood analyses that increase parental anxiety and hospital costs. Consequently, a multidisciplinary protocol was created to standardize the approach.

BACKGROUND: Recent studies demonstrated the positive impact of neoadjuvant treatment in locally advanced gastric cancer. OBJECTIVE: To assess the accuracy of endoscopic ultrasound (EUS) in the selection of patients with gastric adenocarcinoma for neoadjuvant therapy (T ≥ 2 and/or N+). METHODS: Retrospective analysis of patients with an anatomopathological diagnosis of gastric adenocarcinoma between January 2011 and June 2017, who had EUS for staging and underwent surgery as a first therapeutic attempt. The concordance (k) and accuracy (area under the curve (AUC)) of EUS for T ≥ 2 and/or N+ were assessed using the anatomopathological staging of the resected surgical specimen as the gold standard. RESULTS: The final sample included 152 patients (66.4% male, 67.1 ± 12.2 years). The concordance, accuracy, sensitivity and specificity of the EUS for T ≥ 2 and/or N+ were 0.72, 0.86 ± 0.03, 88.5% and 83.1%, respectively. The results were higher in proximal (k = 0.93, AUC = 0.96 ± 0.05, sensitivity (S) = 99.0% and specificity (E) = 90.9%) compared with distal lesions (k = 0.67, AUC = 0.84 ± 0.04, S = 85.7% and E = 81.5%), and in intestinal subtype (k = 0.77, AUC = 0.88 ± 0.04, S = 92.6% and E = 84.1%) compared with diffuse (k = 0.58, AUC = 0.79 ± 0.10, S = 85.0% and E = 72.7%) or mixed-subtype tumours (k = 0.65, AUC = 0.84 ± 0.10, S = 76.9% and E = 90.0%). CONCLUSION: In one of the largest series of patients, we showed that EUS has overall high agreement and accuracy in the selection of patients with gastric adenocarcinoma for neoadjuvant therapy, although the agreement and accuracy are greater for proximal and intestinal lesions.

A 12-year-old Caucasian girl was referenced to a paediatric endocrinology consultation for extensive acanthosis nigricans (AN), hirsutism and severe obesity (Body Mass Index (BMI): 37.5 kg/m2, z-score 3.57). She had a normal psychomotor development. Her mother and her maternal grandfather had

A 3-year-old female child with personal history of atopic dermatitis presented with confluent vesicular and shallow ulcers pruritic rash surrounded by an erythematous base located to both hands and wrists, with 1-week evolution. She had no fever or other symptoms. There was no personal or family history of herpetic infections. Topical antibiotic, topical corticosteroid and oral antihistaminic were tried with no improvement. Physical examination was unremarkable except for generalised dry skin and lesions in figure 1. On suspicion of superinfected viral rash or bullous impetigo she was treated with oral …

Objetivos: Pretendemos conhecer os fatores associados à não realização e as recomendações do médico de medicina geral e familiar (MGF) e do pediatra acerca destas vacinas. Tipo de estudo: observacional, transversal, descritivo. Local: USF da zona norte do País (Braga - USF de Ruães). População: Crianças com idades compreendidas entre os 2 e os 4 anos de idade; pediatras e MGF de Braga. Métodos: Consulta do processo clínico eletrónico da criança juntamente com um questionário realizado por via telefónica, respondido pelos pais ou encarregados de educação, no período de agosto de 2014 a janeiro de 2015. Para avaliação das recomendações dos médicos MGF e pediatra foi aplicado um questionário eletrónico, de resposta online, a médicos de pediatria e MGF. Os dados foram analisados com recurso ao programa Statistical Package for the Social Sciences (SPSS®, Chicago, IL, USA), versão 17.0 para Microsoft Windows®. Resultados: Amostra de 180 crianças, dos 2-4 anos de idade. A taxa de cobertura vacinal contra Streptococcus pneumoniae 13-valente foi de 81,7%. Não se encontrou relação estatisticamente significativa entre o desemprego e a não realização das vacinas extra-PNV. Verificamos uma maior vacinação contra Neisseria meningitidis do serogrupo B e contra o vírus da hepatite A (VHA) na ausência de insuficiência económica (p value de Fisher=0,008 e p=0,046, respetivamente). Verificou-se uma associação entre a realização da vacina contra o rotavírus e frequência de infantário (p=0,029). Observou-se também uma associação estatisticamente significativa entre as crianças cuja escolaridade do pai ou da mãe era licenciatura/bacharelato e a realização das vacinas contra o rotavírus e anti-VHA. O elemento informador das vacinas extra-PNV foi o médico de família em 46%. A realização de todas as vacinas extra-PNV (exceto gripe sazonal) foi superior nas crianças que eram ou tinham sido seguidas por pediatra. Quanto ao questionário aplicado aos médicos obtivemos uma amostra total de 30 MGF e 30 pediatras. Revelou que a vacina mais aconselhada em ambos os grupos foi a contra Streptococcus pneumoniae. A ordem de importância atribuída às vacinas extra-PNV foi a mesma entre os dois grupos de profissionais. A principal razão para nem sempre aconselharem a vacina contra Streptococcus pneumoniae foi o preço. Conclusões: Para a maioria destas vacinas, desemprego e insuficiência económica não são fundamentais na decisão de não vacinar, o que salienta o esforço por parte dos pais em garantir a vacinação. É urgente a tomada de medidas que permitam um acesso mais justo às diferentes opções vacinais. Aims: We aim to know the factors associated with compliance with recommendations for vaccination of children outside the national vaccination plan among patients of general practitioners (GP) and pediatricians. Type of Study: Cross-sectional study. Local: Ruães Family Health Unit (Cávado I Group of Health Centres). Population: Children aged 2-4 years old and pediatricians and GP from Braga. Methods: Electronic health records of children were studied. A questionnaire was administered by telephone interview of parents or guardians from August 2014 to January 2015. We used an electronic questionnaire with online response by GP and pediatricians to evaluate GP and pediatricians' compliance with recommendations. Data were analyzed using the Statistical Package for Social Sciences (SPSS, Chicago, IL, USA), version 17.0 for Microsoft Windows®. Results: We selected a sample of 180 children, aged of 2-4 years old. Vaccination coverage against Streptococcus pneumoniae was 81.7%. There was no statistically significant association between unemployment of the parent or guardian and non-compliance vaccines outside the plan. We found higher rates of vaccination against Neisseria meningitidis serogroup B and against hepatitis A virus (HAV) in the absence of economic difficulties (p value of Fisher=0.008 and p=0.046, respectively). Association between rotavirus vaccination and kindergarten attendance was statistically significant (p=0.029). There was also a statistically significant association between university-level education of the father or mother and rotavirus and hepatitis A vaccination. Vaccines outside the national plan were recommended by the family doctor in 46% of cases. Vaccination with vaccines outside the national plan was higher in children who were or had been followed by pediatrician (except flu vaccine). The sample of 30 GP and 30 pediatricians revealed that the most commonly recommended vaccine was that against Streptococcus pneumoniae. The order of importance attributed to vaccines was the same in both groups of professionals. The main reason for not recommending the Streptococcus pneumoniae vaccine was its price. Discussion and conclusions: For most vaccines, unemployment and economic difficulties are not decisive factors in the decision not to vaccinate. This emphasizes the parents' role in vaccination. Measures are required to ensure a fair access to different vaccine options.