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    2440 research outputs found

    Uma causa rara de tumefação axilar

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    Axillary swelling is a common condition in pediatric age. The most common diagnosis is lymph node swelling, but it can also be caused by soft tissue tumors, vascular lesions, or inflammation of sweat glands. In rare cases, it can be due to ectopic breast tissue (EBT). A 14-year-old female presented with right axillary pain with one year of evolution and swelling for the past two months, gradually increasing in size, especially during menstruation. Sonography revealed EBT in both axillae, and further study showed duplication of the excretory system in both kidneys. The tissue on the right axilla was excised. EBT should be considered in the differential diagnosis of axillary swelling in adolescents and young females. When the diagnosis is established, the presence of associated urologic anomalies should be investigated. Clinicians should be aware that EBT can undergo the same pathological changes as normally located breast tissue. Surgical removal should be considered for cosmetic and prophylactic treatment.info:eu-repo/semantics/publishedVersio

    Síndrome de fuga de ar espontâneo num Departamento de Emergência Pediátrica: Experiência de 11 anos

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    Introduction: Due to lack of data, the management of air leaks in children and adolescents is based on protocols for adults. In this study, the authors review and report their institutional experience in the area. Methods: Retrospective and descriptive study of spontaneous air leak cases diagnosed in a Portuguese Pediatric Emergency Department (PED) between January 2007 and December 2018. Results: Twenty-one episodes of spontaneous air leak were diagnosed in 16 patients (87.5% male), with a mean (± standard deviation) age of 14.3 (± 5.1) years. Eighteen cases of spontaneous pneumothorax were reported, fifteen of which primary (eleven first-time episodes and four recurrences) and three secondary (two first-time episodes and one recurrence) to asthma. Three cases of pneumomediastinum with subcutaneous emphysema were identified, two of which related to infection. Smoking habits and/or recent physical activity were major triggers. Pleuritic chest pain was the most frequent symptom on admission. Conservative treatment was the only approach used in six cases. Most cases required thoracic drainage, five of which required surgical intervention. Discussion: This study shows similar demographic features, triggers, and clinical presentation to those reported in the literature for these cases. The management of the condition was based on recommendations established for adults. Conclusion: Although spontaneous air leak is an uncommon condition, it is a reality in PED. Prospective studies in pediatric age are required to develop adequate recommendations for children and adolescents.info:eu-repo/semantics/publishedVersio

    Defeitos congénitos da glicosilação

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    Congenital disorders of glycosylation are a highly variable, rapidly expanding family of genetic diseases that result from defects in the synthesis of glycans. The vast majority of these monogenic diseases are inherited in an autosomal recessive way, but some types follow an autosomal dominant or X-linked inheritance. The present work aimed to review the state of the art of congenital disorders of glycosylation, including available therapeutic options, and present a simplified diagnostic approach to this group of diseases. Congenital disorders of glycosylation can be classified into four categories: N-linked glycosylation defects, O-linked glycosylation defects, combined glycosylation defects, and glycosphingolipid and glycosylphosphatidylinositol anchor synthesis defects. The phenotype may range from mild to severe, depending on disease severity. Clinical features include dysmorphic features, neurologic, dermatologic, cardiac, endocrine, immunologic, hematologic, gastrointestinal and liver involvement, and skeletal muscle abnormalities. As there is no universal or pathognomonic sign or symptom and no sensitive diagnostic test, it is of foremost importance to keep a high index of suspicion of these diseases. When a congenital disorder of glycosylation is suspected, the first step in screening is to perform serum transferrin isoelectric focusing. Molecular genetic testing is the most specific diagnostic test. Treatment is usually symptomatic, with specific treatment only available for some of these disorders. Since congenital defects of glycosylation may affect any organ at any age and have variable clinical presentation, they should be considered in the differential diagnosis of any patient with multiorgan involvement.info:eu-repo/semantics/publishedVersio

    Entre a Perturbação Obsessivo-Compulsiva e a Psicose

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    Introduction: Obsessive-compulsive disorder is an heterogeneous condition in which periods of altered perception or delusions may arise. Similarly, individuals with psychotic disorders may have obsessive-compulsive symptoms. Case report: A male adolescent presented to the Emergency Department (ED) with obsessive symptomatology with three months of evolution. Three weeks later, he returned to the ED showing symptom worsening and reporting delusions, being admitted to the inpatient unit to clarify the diagnosis. No positive symptoms were reported during hospitalization. During follow-up, the patient reported an episode of apparent delusional perception that he associated with the beginning of symptoms, again raising the question of whether a psychotic episode was present. Discussion/Conclusions: The distinction between obsessive-compulsive disorder and psychosis is not always clear, with obsessive-compulsive disorder being a significant comorbidity in patients with a first psychotic episode. Close patient assessment is required for early diagnosis and appropriate intervention.info:eu-repo/semantics/publishedVersio

    Gastroenterite aguda por Campylobacter spp. no Serviço de Urgência Pediátrica de um hospital de nível II

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    Introduction: Campylobacter spp. is the main cause of pediatric acute bacterial gastroenteritis (ABG) in the European Union, with greater incidence in children under five years old. Most patients present complete recovery within days of infection, with no associated comorbidities. Antibiotic therapy should be reserved for severe cases. Objectives: The aim of this study was to investigate the epidemiology, symptoms, treatment, and complications of Campylobacter spp. infection in pediatric patients with ABG. Material and methods: Case-by-case review of the clinical records of patients evaluated in the Pediatric Emergency Department of a level II hospital with a diagnosis of ABG and Campylobacter spp. isolated from stool samples over a five-year period (2013-2017). Results: Of the 1990 stool tests performed, 637 (32%) were positive for the presence of bacteria. Campylobacter spp. was identified in the samples of 459 patients (72%). Eighteen patients were excluded for insufficient data, making up a final sample of 441 patients, with a mean age of three years old. Clinically, patients presented with aqueous diarrhea (59.6%), bloody diarrhea (43.8%), bloody and mucus diarrhea (15.4%), mucus diarrhea (3.9%), vomiting (36.3%), abdominal pain (24.3%), fever (63%), seizures (0.9%), and rash (0.2%). Eighty-nine patients were hospitalized. Eleven patients received antibiotic therapy. Discussion: This study represents the largest national case-by-case review of ABG by Campylobacter spp. in the pediatric population. Campylobacter was the main bacteria identified, mostly associated with self-limited disease. Conclusion: A judicious use of stool tests allows etiological identification in ABG. The growing number of cases of ABG by Campylobacter spp. reinforces the need for better hygiene procedures.info:eu-repo/semantics/publishedVersio

    Hemocultura positiva e sépsis neonatal – Casuística de cinco anos

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    Introduction: Neonatal sepsis remains a major cause of morbidity and mortality in pediatric age. Since the predominant causative microorganisms vary between regions and over time, it is crucial to know the local epidemiology. The aim of this study was to characterize patients with positive blood culture and clinical presentation of sepsis admitted to a Neonatology Unit and identify possible risk factors and implicated microorganisms and respective antimicrobial susceptibility patterns. Methods: This was a retrospective descriptive study of clinical data of patients admitted to the Neonatology Unit of a level II hospital with positive blood culture and clinical presentation of sepsis over five years (2014-2018). Results: Seventy-three culture-proven sepsis cases were identified, 51 (69.9%) of which corresponded to low-birth-weight neonates and 52 (71.2%) to preterm newborns. Most cases (60; 82.2%) concerned late-onset sepsis. The most frequent microorganisms identified were coagulase-negative Staphylococcus (55; 75.3%), mainly associated with late-onset sepsis. Group B Streptococcus and Escherichia coli were the most common microorganisms isolated in early-onset sepsis. No cases of methicillin-resistant Staphylococcus aureus were identified. Coagulase-negative Staphylococcus presented high resistance rates to beta-lactam antibiotics. Conclusions: The results retrieved from this study document the local epidemiology of neonatal sepsis and show a high frequency of late-onset sepsis associated with nosocomial pathogens. Coagulase-negative Staphylococcus spp. are resistant to the most commonly used antibiotics, with these cases requiring the use of vancomycin. It is crucial to implement effective guidelines to control and prevent nosocomial infections and reduce the incidence, morbidity, and mortality of neonatal sepsis, as well as the need for broad-spectrum antibiotics.info:eu-repo/semantics/publishedVersio

    Mastocitose cutânea maculopapular

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    Mastocytosis is a rare disorder caused by proliferation and accumulation of mast cells in various tissues, with characteristic symptoms associated with the release of their mediators. Its cutaneous form, usually benign, is the most frequent among children. The authors report the case of a two-month-old male infant who presented to the Emergency Department with small, tan-to-brown macules and papules distributed mainly on the trunk, which progressively became nodular and bullous, with one month of evolution. Darier´s sign was positive. The absence of systemic signs and analytic (including serum tryptase level) and echographic changes was consistent with the diagnosis of maculopapular cutaneous mastocytosis, or urticaria pigmentosa, subsequently confirmed by skin biopsy. Treatment with anti-histaminic therapy and topical immunosuppressant and avoidance of triggering factors led to a positive outcome.info:eu-repo/semantics/publishedVersio

    Caso clínico pneumológico

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    Post-extubation acute pulmonary edema (PEAPE) is an uncommon complication of tracheal extubation, occurring in 0.1% of patients undergoing general anesthesia. It has rarely been described in pediatric age, but its incidence is thought to be underestimated, as many cases of post-operative respiratory distress may be misdiagnosed or unrecognized. A formerly healthy 15-year-old male diagnosed with acute appendicitis was submitted to a laparoscopic appendectomy under general anesthesia. Immediately after extubation, he developed signs and symptoms of respiratory distress, and chest radiograph was compatible with acute pulmonary edema. Due to suspicion of PEAPE, supplementary oxygen and intravenous furosemide were administered, with favorable outcome. PEAPE is a major anesthesia-related emergency, which may worsen the prognosis of low-risk surgical procedures. A high degree of suspicion should be maintained in children and adolescents presenting with signs of respiratory distress and hypoxia after general anesthesia, as prompt diagnosis and treatment are crucial for a favorable outcome.info:eu-repo/semantics/publishedVersio

    Febre persistente e expectoração hemoptóica – caso clínico

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    Foreign body aspiration (FBA) is a common and serious problem in children. Considering that signs and symptoms can be non-specific and subtle, it is of utmost importance to recognize vulnerable patient groups, combine an accurate history with complete physical examination, and follow a structured diagnostic approach towards correct diagnosis. In the present case, a high index of suspicion was essential to prevent a delay in FBA diagnosis, discuss the appropriate management strategy and improve patient outcomes.info:eu-repo/semantics/publishedVersio

    Repeat examinations in conventional radiology analysis

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    Introdução: A Radiologia Convencional é o método de primeira linha no diagnóstico de diversas patologias e avaliação da anatomia. A repetição de exames relaciona-se com o não cumprimento de critérios de boa realização que resultem em ausência/insuficiência de valor diagnóstico. A diminuição da taxa de repetição representa um fator importante na área da radiologia e da saúde comunitária, contribuindo para a diminuição da dose recebida pelos doentes e profissionais de saúde. O objetivo principal deste estudo foi determinar os exames de radiologia convencional mais suscetíveis de serem repetidos pelos técnicos de radiologia, e causas associadas. Métodos: Realizou-se um estudo analítico, observacional e transversal. Os dados foram colhidos através da aplicação online de um inquérito por questionário aos participantes no estudo. A população em estudo consistiu em técnicos de radiologia portugueses, licenciados em radiologia ou imagem médica e radioterapia, a exercer funções em Portugal ou no estrangeiro. Para o estudo de associações entre variáveis, utilizaram-se os testes estatísticos de Correlação de Pearson e Qui-quadrado da independência. Resultados: A amostra foi constituída por 228 participantes, dos quais 176 (77,2%) do sexo feminino, com média de idade de 33.93 (±10.37) anos e tempo médio de experiência profissional de10.58 (±10.34) anos. O exame ao joelho (61%) foi considerado pelos participantes como o mais provável de ser repetido, seguido do tórax (29.4%) e ombro (24.6%). Os participantes apontaram como erro técnico mais comum o posicionamento incorreto, sendo a não colaboração do doente, o principal fator preditor de erro técnico. Observou-se uma correlação negativa de fraca amplitude entre o tempo de experiência dos profissionais e a frequência com que repetem exames radiológicos. Conclusão: Os exames realizados ao joelho, ombro e tórax, são aqueles que apresentam maior taxa de repetição, sendo o erro mais comum o posicionamento incorreto do doente. O fator que mais contribui para o erro é a não colaboração do doente. Os participantes realçam a necessidade do desenvolvimento de programas de formação contínua e a introdução de pequenas pausas durante os turnos.info:eu-repo/semantics/publishedVersio

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