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Suspeita de homocistinúria clássica numa adolescente nascida antes do rastreio neonatal precoce
Get PDFIntroduction: Classical homocystinuria (HCU) is an autosomal recessive disorder caused by a deficiency in the cystathionine beta-synthase enzyme and associated with a high probability of vascular complications. Herein is presented the case of an adolescent diagnosed with HCU during cerebral venous sinus thrombosis (CVST) study.
Case Report: A 14-year-old girl presented with thrombophilia screening tests suggestive of HCU during CVST study. After referral to an Inherited Metabolic Diseases Unit, she started supplementation with pyridoxine, folic acid, vitamin B12, betaine anhydrous, and cysteine and was advised to restrict natural proteins and methionine from diet. Genetic analysis revealed a homozygous CBS mutation (c.572C>T (p.T191M) with c.699C>T (p.Y233Y) polymorphism.
Discussion: In adolescents born before 2004 (year of implementation of the Portuguese newborn screening program), HCU should be considered when studying hypercoagulability syndromes, as it is a treatable condition and treatment can prevent major morbidity and mortality causes.info:eu-repo/semantics/publishedVersio
Após o AVC em idade pediátrica, é hora de habilitar!
Get PDFIntroduction: Although rare, pediatric stroke is more common than one may think. Deficits may not be evident in the short term but emerge months or years later, when psychomotor development, educational, and social requirements increase.
Aims: To characterize the pediatric population with stroke followed at the Physical and Rehabilitation Medicine (PRM) consultation in a tertiary center and compare it with data in the literature and review the evidence on pediatric stroke rehabilitation care.
Material and Methods: This was a retrospective study focusing on the first observation of stroke patients followed at a pediatric PRM consultation over 12 months. Gender, age, type of stroke, vascular territory, risk factors, functionality, event recurrence, and mortality were assessed. A bibliographic search was conducted on PubMed and Medline using the keywords ‘stroke’, ‘pediatric’, ‘perinatal’, ‘neuroplasticity’, ‘functionality’, and ‘rehabilitation’. Inclusion criteria comprised meta-analysis, systematic review, and review type of studies, written in Portuguese and English languages, and focusing human studies.
Results: The study included 42 patients, 25 of whom were male (60%). Perinatal stroke was reported in 33 patients (13 in the prenatal period and 20 up to 28 days of life). Ischemic stroke was reported in 35 cases (83%), with the middle cerebral artery being the most affected vascular territory in 29 cases (69%). Fifty percent of patients had known risk factors, specifically prematurity in 21%. Fifty to 75% of patients had high functionality levels. No stroke recurrence or deaths were reported during the study period.
Rehabilitation care should be implemented as soon as possible. Evidence-based guidance is still lacking for this population.
Conclusions: Stroke, although uncommon in the pediatric population, is a major cause of morbidity and mortality. Diagnosis is challenging, as symptoms are often subtle and mimic other more frequent diseases in this age group. Timely referral to the physiatrist allows integration of the child into a rehabilitation program, optimizing neuroplasticity and improving participation in several activities.info:eu-repo/semantics/publishedVersio
Crónica da mão – Uma apresentação incomum de tuberculose em idade pediátrica
Get PDFTuberculosis remains the most common cause of death from infectious diseases worldwide. Extrapulmonary tuberculosis with musculoskeletal involvement occurs in about 10-15% of cases, mainly affecting joints and bones. Of these, only 1-5% are reported as synovitis of the hand. However, prompt diagnosis and treatment are often delayed and, if left untreated, bone and tendon destruction soon ensue and may lead to chronic synovitis.
A 15-year-old girl presented with recurrent pain of the hand following trauma. Imaging showed tenosynovitis and tendon rupture. Surgical treatment was performed. Pathological assessment revealed necrotic caseous granulomas. Chest radiography showed no abnormal findings, but both Tuberculin Skin Test and Interferon Gamma-Release Assay were positive. Tuberculous tenosynovitis was diagnosed, and 12-month anti-tuberculous chemotherapy was instated. Five years after surgery, the patient maintained chronic pain and functional hand limitation.
Tuberculous tenosynovitis of the hand is a rare and insidious condition that should be considered in the differential diagnosis of chronic hand pain. Delayed diagnosis and treatment can lead to residual functional limitation, making disease recognition critical.info:eu-repo/semantics/publishedVersio
Os cuidados às crianças em ambiente hospitalar são seguros?
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Ácido fólico, vitamina B12 e sintomas psicóticos no internamento psiquiátrico de crianças e jovens
Get PDFIntroduction: Folic acid and/or vitamin B12 deficiency are known to be associated with neuropsychiatric disorders. However, the association between serum levels of these molecules and psychotic symptoms is not established. The aim of this study was to investigate the association between folic acid and vitamin B12 serum levels and the presence of psychotic symptoms among child and young adult psychiatric inpatients.
Material and Methods: This was a retrospective cohort study of 165 patients under 25 years of age admitted due to psychiatric disorders between 2005 and 2018 and with folic acid and vitamin B12 serum levels assessed during hospitalization. Two groups of patients were defined according to presence or absence of psychotic symptoms. Rehospitalization was also assessed.
Results: Folic acid serum levels were significantly lower (p=0.01) in children and young adults hospitalized for psychiatric disorders with psychotic symptoms compared to patients of the same age with acute psychiatric illness without psychotic symptoms. A similar non-significant trend was found for vitamin B12. Rehospitalization rates were also higher in the first group.
Conclusion: Results from this study suggest that low folic acid serum levels are associated with psychotic symptoms regardless of the baseline diagnosis.info:eu-repo/semantics/publishedVersio
Hepatic immune-mediatedadverseeffects of immune checkpoint inhibitors: analysis of real-life experience
Get PDFIntroduction and objectives: Immune Checkpoint Inhibitors (ICI) have shifted the paradigm of cancer therapy treatment. Despite their efficacy, ICIs may induce immune-related adverse events (irAE), which can affect various organs, namely the liver. This study intends to perform a comprehensive clinical description of the hepatic irAEs associated with ICI in a Portuguese population of a tertiary hospital centre.
Materials and methods: A retrospective analysis of patients who developed immune-mediated liver injury (IMLI), among a cohort of patients treated with ICIs between March 15th of 2015 and December 15th of 2019 in a tertiary hospital. We used both Common Terminology Criteria for Adverse Events (CTCAE) and Drug-Induced Liver Injury Network (DILIN) criteria to define liver injury.
Results: Among 151 patients, eight (5.3%) patients developed liver injury grade ≥3, of which five had hepatic metastasis. As such, only 3 cases were classified as IMLI. All IMLI presented with cholestasis pattern; the median duration from ICI initiation to IMLI was 84 days and/or 4 ICI cycles; one patient registered IMLI one month after nivolumab suspension; all were treated with steroids and one was successfully submitted to ICI re-challenge; a favourable outcome was seen in all patients; the median time to hepatic biochemistries normalization was 150 days. Among 10 patients with previous hepatic conditions, only one developed liver injury grade 2.
Conclusions: Clinically significant ICI-related hepatotoxicity was uncommon; Immune-mediated liver injury may present a cholestatic pattern predominance. There was a low rate of liver injury of any kind in patients with previous hepatic disease while on ICI.info:eu-repo/semantics/publishedVersio
Self-Care in Heart Failure Inpatients: What Is the Role of Gender and Pathophysiological Characteristics? A Cross-Sectional Multicentre Study
Get PDFHeart failure is often characterised by low exercise capacity and a great impairment of performance in the activities of daily living. The correct management of the disease can prevent the worsening of symptoms and promote a better quality of life. The aims of this study are to understand the relationship of gender and pathophysiological characteristics with self-care behaviour and to evaluate the self-care behaviour in a sample of Portuguese heart failure inpatients, using the Self-Care of Heart Failure Index (SCHFI). A cross-sectional multicentre study enrolling 225 heart failure inpatients from eight hospitals from Portugal was performed. At admission, each patient's functional capacity was evaluated as well as their self-care behaviour, using the SCHFI Portuguese v6.2. A comparison between self-care behaviour with gender was performed. The patients' mean age was 68.4 ± 10.7 years old, 68% were male and 82.3% had reduced ejection fraction. A mean value of 47.9, 35.6 and 38.8 points was found in the SCHFI score of the sections self-care maintenance, self-care management and self-care confidence, respectively. Heart failure inpatients present inadequate levels of self-care behaviour. The results do not suggest a relationship between gender and pathophysiological characteristics with self-care behaviour.info:eu-repo/semantics/publishedVersio
Case Report: Pheochromocytoma and Synchronous Neuroblastoma in a Family With Hereditary Pheochromocytoma Associated With a MAX Deleterious Variant
Get PDFIntroduction: Pheochromocytomas are rare catecholamine-producing neuroendocrine tumours arising from chromaffin cells of the adrenal medulla or extra-adrenal sympathetic paraganglia. Recent studies have indicated that up to 40% of pheochromocytomas could be attributable to an inherited germline variant in an increasing list of susceptibility genes. Germline variants of the MYC-associated factor (MAX) gene have been associated with familial pheochromocytomas and paragangliomas with an autosomal dominant pattern of inheritance, a median age at onset of 33 years and an overall frequency estimated at 1.9%. We describe a deleterious MAX variant associated with hereditary pheochromocytoma in a family with four affected individuals.
Case presentation: The first patient presented with bilateral pheochromocytoma in 1995; genetic testing was proposed to his oldest son, when he was diagnosed with a bilateral pheochromocytoma with a synchronous neuroblastoma. Upon the identification of the MAX variant c.97C>T, p.(Arg33Ter), in the latter individual, his two siblings and their father were tested and the same variant was identified in all of them. Both siblings were subsequently diagnosed with pheochromocytoma (one of them bilateral) and choose to remain on active surveillance before they were submitted to adrenalectomy. All the tumours secreted predominantly norepinephrine, accordingly to the typical biochemical phenotype ascribed to variants in the MAX gene.
Conclusion: This case series is, to our knowledge, the one with the largest number of individuals with hereditary pheochromocytoma with a deleterious MAX variant in the same family. It is also the first case with a synchronous pheochromocytoma and neuroblastoma in carriers of a MAX deleterious variant. This report draws attention to some ill-defined features of pheochromocytoma and other malignancies associated with a MAX variant and highlights the importance of understanding the genotype-phenotype correlation in hereditary pheochromocytoma and the impact of oriented genetic testing to detect, survey and treat patients and kindreds at risk.N/
How to Resume Elective Orthopaedic Surgical Procedures during the COVID-19 Pandemic?
Get PDFEste documento foi elaborado pelo Colégio de Ortopedia da Ordem dos Médicos com o objetivo de estabelecer as orientações sobre a retoma da atividade cirúrgica programada em Ortopedia durante a pandemia COVID-19. As presentes normas de orientação: a) definem os critérios que permitem a priorização das cirurgias de acordo com a gravidade da situação clínica, com base em classificações existentes e publicadas; b) fornecem um modelo de organização para a preparação dos doentes, descrevendo os circuitos do doente nos períodos pré-operatório, intraoperatório e pós-operatório; c) realçam as regras de segurança para a realização de cirurgias e desenham um modelo de acompanhamento após a alta de acordo com a evidência científica.This document was prepared by the College of Orthopedics of the Portuguese Medical Association with the aim of developing the guidelines on the resumption of elective surgical activity in Orthopedics during the COVID-19 pandemic. It sets the criteria that allow the prioritization of surgeries according to the severity of the clinical situation, based on existing and published classifications. Moreover, it provides an organizational model for patient preparation and describes the patient pathways in the preoperative, intraoperative and postoperative periods. It also describes safety rules for elective surgery and a model for monitoring patients after discharge according to scientific evidence.info:eu-repo/semantics/publishedVersio
Extracorporeal Membrane Oxygenation: Os Primeiros 10 Anos de Experiência de uma Unidade de Cuidados Intensivos Pediátricos Portuguesa
Get PDFIntroduction: In Portugal, extracorporeal membrane oxygenation (ECMO) is used in pediatric patients since 2010. The aim of this study was to describe the clinical characteristics of patients, indications, complications and mortality associated with the use of ECMO during the first 10-years of experience in the Pediatric Intensive Care Unit located in Centro Hospitalar Universitário Lisboa Norte.
Material and methods: Retrospective observational cohort study of all patients supported with ECMO in a Pediatric Intensive Care Unit, from the 1st of May 2010 up to 31st December 2019.
Results: Sixty-five patients were included: 37 neonatal (≤ 28 days of age) and 28 pediatric patients (> 28 days). In neonatal cases, congenital diaphragmatic hernia was the main reason for ECMO (40% of neonatal patients and 23% of total). Among pediatric patients, respiratory distress was the leading indication for ECMO (47% of total). The median length of ECMO support was 12 days. Clinical complications were more frequent than mechanical complications (65% vs 35%). Among clinical complications, access site bleeding was the most prevalent with 38% of cases. The overall patient survival was 68% at the time of discharge (65% for neonatal and 71% for pediatric cases), while the overall survival rate in Extracorporeal Life Support Organization registry was 61%. The number of ECMO runs has been increasing since 2011, even though in a non-linear way (three cases in 2010 to 11 cases in 2019).
Discussion: In the first 10 years we received patients from all over the country. Despite continuous technological developments, circuitrelated complications have a significant impact. The overall survival rate in the Pediatric Intensive Care Unit was not inferior to the one reported by the Extracorporeal Life Support Organization.
Conclusion: The overall survival of our Pediatric Intensive Care Unit is not inferior to one reported by other international centers. Our experience showed the efficacy of the ECMO technique in a Portuguese centre.Introdução: Em Portugal, a oxigenação por membrana extracorporal (ECMO) é utilizado em doentes pediátricos de forma consistente desde 2010. O nosso objetivo é descrever as características clínicas, indicações, complicações e sobrevivência associadas à utilização da ECMO nos primeiros 10 anos de experiência na nossa unidade. Material e Métodos: Estudo de coorte retrospetivo dos doentes tratados com ECMO na Unidade de Cuidados Intensivos Pediátricos do Hospital de Santa Maria, de 1 de maio de 2010 a 31 de dezembro de 2019. Resultados: Foram incluídos 65 doentes: 37 neonatais (≤ 28 dias de idade) e 28 pediátricos (> 28 dias). Nos neonatais, a hérnia diafragmática congénita foi a principal indicação (40% dos recém-nascidos e 23% do total). Relativamente aos doentes pediátricos, a insuficiência respiratória constituiu a principal indicação para ECMO (47% do total). A mediana de duração da técnica foi de 12 dias. As complicações clínicas foram mais frequentes do que as mecânicas (65% vs 35%). Entre as complicações clínicas, a hemorragia no local de acesso foi a mais frequente (38% dos casos). A sobrevivência global do total da amostra foi de 68% no momento da alta (65% nos neonatais e 71% nos pediátricos), enquanto que a sobrevivência descrita no registo da Extracorporeal Life Support Organization é de 61%. O número de casos de utilização de ECMO tem vindo a aumentar desde 2011, embora de forma não linear (três casos em 2010 para 11 casos em 2019). Discussão: Nos primeiros 10 anos de experiência em ECMO na Unidade de Cuidados Intensivos Pediátricos recebemos doentes oriundos de várias partes do país. Apesar da evolução tecnológica contínua, as complicações relacionadas com o circuito têm um impacto significativo. A taxa de sobrevida global no nosso centro não foi inferior à reportada no relatório da Extracorporeal Life Support Organization. Conclusão: A sobrevida global na Unidade de Cuidados Intensivos Pediátricos não é inferior à descrita no registo internacional. A nossa experiência demonstra a eficácia da ECMO num centro Português.info:eu-repo/semantics/publishedVersio