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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.

Dissertação de Mestrado Integrado em Medicina Veterinária, área científica de Produção Animal e Segurança Alimentar Dried salted cod is a traditional food product with a long history of consumption. Each year in Portugal, nearly 70 thousand tons are consumed, which accounts for approximately 7kg per person. Nevertheless, dried salted cod can present several quality and safety related non-conformities. To mitigate these issues, food business operators must adopt preventive measures and strict control procedures in the production, storage, and distribution of dried salted cod. The aim of this work was to assess dried salted cod and related products non conformities detected at the reception step of a logistic operator, and to design a practical visual guide to further enhance control procedures at the incoming raw materials section. Thus, quality and safety control records, as well as temperature monitoring records, and analytical control reports of dried salted cod from 2017 to 2022 were assessed. Additionally, to develop the incoming raw materials visual guide, Codex Alimentarius Commission texts were explored and a photographic record of dried salted cod and related products was performed from October 2021 to February 2022. Most of the detected non-conformities were related to net weight defects (71.40%), but rouge (0.25%) and dun (0.37%) were also reported. Considering dried salted cod and related products temperature measurements performed at the reception step, 79.80% were non compliant, while 69% presented non-conforming humidity measurements. The incoming raw materials visual guide included appropriate sampling plans for the reception step of dried salted cod and related products, together with illustrative pictures of conforming and non conforming products and a references list of related publications for further delving were also included. Taken together, results revealed a high rate of non-conformities related to temperature and humidity of incoming dried salted cod and related products at the logistic operator. The visual guide will further assist the quality and safety control procedures and activities, as well as the decision-making process related to dried salted cod and related products at the reception step of the logistic operator RESUMO - Avaliação da qualidade e segurança de bacalhau salgado seco num operador logístico: desenvolvimento de um guia visual prático para melhorar procedimentos à receção. - Bacalhau salgado seco é um produto tradicional com uma longa história de consumo. Todos os anos em Portugal cerca de 70 mil toneladas são consumidas, correspondente a aproximadamente 7kg por pessoa. No entanto, pode apresentar várias não conformidades relacionadas com a sua segurança e qualidade. De modo a mitigar estes problemas, os operadores do setor alimentar devem adotar medidas de prevenção e controlo na sua produção, armazenamento e distribuição. O objetivo deste trabalho foi o de avaliar não conformidades em bacalhau salgado seco e produtos afins detetadas à receção num operador logístico, e de desenhar um guia visual prático para melhorar procedimentos de controlo de qualidade na secção de receção de matéria-prima. Foram, então, avaliados os registos de atividades de controlo à receção, assim como os de medição da temperatura e de controlo analítico da humidade de 2017 a 2022. Adicionalmente, de modo a desenvolver o guia prático e visual, textos do Codex Alimentarius Commission foram analisados e foi realizado um registo fotográfico do bacalhau seco salgado e produtos afins de outubro de 2021 a fevereiro de 2022. A maior proporção de não conformidades detetada está relacionada com defeitos de peso líquido (71,40%), mas também foram detetados rouge (0,25%) e empoado (0,37%). Considerando as medições de temperatura de bacalhau seco salgado e produtos afins efetuadas na fase de receção, 79,80% não estavam em conformidade, enquanto 69% apresentavam medições de humidade não conformes. O guia prático inclui um plano de amostragem, juntamente com imagens ilustrativas de produtos conformes e possíveis não conformidades, e uma lista de referências também incluída. Os resultados revelaram uma elevada taxa de não-conformidades relacionadas com a temperatura e humidade do bacalhau salgado seco e produtos afins no operador logístico. O guia prático e visual ajudará os procedimentos e atividades de controlo de qualidade e segurança e o processo de tomada de decisões relacionadas com o bacalhau seco salgado e produtos afins na fase de receção do operador logístico N/A

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.

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.

Gonadal dysgenesis (GD) is a disorder of sexual development (DSD) characterized by defective or incomplete formation of the gonads (ovary or testis) due to either structural or numerical modifications of the sex chromosomes or due to mutations in the genes responsible for gonadal development. Two cases of unrelated phenotypically female patients are presented, a complete GD and a partial GD. Both cases were diagnosed with premalignant lesions at a prepubertal age. Even at very young ages there is a high tumor risk, which reiterates the importance of early diagnosis of suspected cases, in order to better characterize and guide this patients. To prevent the development of malignancy, a gonadectomy is recommended, as close as possible to the diagnosis., Portuguese Journal of Pediatrics, Vol. 51 No. 3 (2020)

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

Submitted by Ana Costa (apcosta@porto.ucp.pt) on 2020-03-12T12:04:02Z No. of bitstreams: 1 TESE FINAL.pdf: 887529 bytes, checksum: 8fc5fa3ef2607788064d16638510b3cd (MD5) Approved for entry into archive by Maria Helena Ribeiro (helena.ribeiro@lisboa.ucp.pt) on 2020-03-18T11:31:20Z (GMT) No. of bitstreams: 1 TESE FINAL.pdf: 887529 bytes, checksum: 8fc5fa3ef2607788064d16638510b3cd (MD5) Made available in DSpace on 2020-03-18T11:31:20Z (GMT). No. of bitstreams: 1 TESE FINAL.pdf: 887529 bytes, checksum: 8fc5fa3ef2607788064d16638510b3cd (MD5) Previous issue date: 2019-02-06

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.

Primary cutaneous lymphomas (PCL) are rare in pediatrics. Mycosis fungoides (MF) is the most frequent PCL diagnosed in childhood. There are various clinical variants of MF, including the hypopigmented MF (HMF). We present a 5-year-old boy with an 18-month history of progressive, generalized, nonpruritic hypopigmented lesions with central lacy erythema. He had no improvement with emollients. Skin biopsy showed typical features of HMF. He was treated with topical corticosteroids and tacrolimus and narrow-band ultraviolet B (NBUVB) phototherapy, with good response. HMF may mimic multiple skin disorders. Unusual hypopigmented skin lesions should be biopsied. Though phototherapy is effective, recurrence is common.

A three-year-old male child presented with erythematous maculopapular nonpruritic generalized rash, poor feeding, vomiting, and cramping generalized abdominal pain. He was previously healthy and there was no family history of immunologic or other diseases. On examination he was afebrile, hemodynamically stable, with painful palpation of the right upper quadrant and positive Murphy's sign. Laboratory tests revealed elevated inflammatory markers, elevated aminotransferase activity, and features of cholestasis. Abdominal ultrasound showed gallbladder wall thickening of 8 mm with a positive sonographic Murphy's sign, without gallstones or pericholecystic fluid. Acute Alithiasic Cholecystitis (AAC) was diagnosed. Tests for underlying infectious causes were negative except positive blood specimen for Human Herpes Virus Type-6 (HHV-6) by polymerase chain reaction. With supportive therapy the child became progressively less symptomatic with gradual improvement. The child was discharged on the sixth day, asymptomatic and with improved analytic values. Two months later he had IgM negative and IgG positive antibodies (1/160) for HHV-6, which confirmed the diagnosis of previous infection. In a six-month follow-up period he remains asymptomatic. To the best of our knowledge, this represents the first case of AAC associated with HHV-6 infection., info:eu-repo/semantics/publishedVersion

Lactente do sexo masculino com seis meses. Antecedentes pessoais: gestação de termo, vigiada e sem intercorrências, somatometria ao nascimento adequada, índice de Apgar 10/10 no 1º e 5º minuto e período neonatal sem intercorrências. os 4 meses apresentou episódio de bronquiolite aguda com resolução em ambulatório. Antecedentes familiares: história de atopia na mãe.

Tese de mestrado. Biologia (Biologia Evolutiva e do Desenvolvimento). Universidade de Lisboa, Faculdade de Ciências, 2011 Submitted by Lurdes Saramago (lurdes.saramago@fc.ul.pt) on 2011-11-21T18:57:01Z No. of bitstreams: 1 ulfc090918_Maria_Fernandes.pdf: 2814011 bytes, checksum: 7586b6652eb961c4dbd80022cb95b92c (MD5) Made available in DSpace on 2011-11-21T18:57:30Z (GMT). No. of bitstreams: 1 ulfc090918_Maria_Fernandes.pdf: 2814011 bytes, checksum: 7586b6652eb961c4dbd80022cb95b92c (MD5) Previous issue date: 2011