Centro Hospitalar do Porto
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HIPTCN: Estudo Prospetivo Observacional de Doentes Traumatizados Cranioencefálicos Hipocoagulados com Tomografia Computorizada Inicial Normal
Introduction: Our national protocol for traumatic brain injury dictates that hypocoagulated patients with mild trauma and initial tomography scan with no intracranial traumatic changes must be hospitalized for 24 hours and do a post-surveillance tomography scan. The main goal of this study was to evaluate the clinical relevance of these measures.
Material and methods: A prospective observational study was undertaken in four hospitals. Adult hypocoagulated traumatic brain injury patients with a normal tomography scan were included. The main outcomes evaluated were rate of delayed intracranial hemorrhage, rate of admission in a neurosurgical department, rate of complications related with surveillance and rate of prolonged hospitalization due to complications. An analysis combining data from a previously published report was also done.
Results: A total of 178 patients were included. Four patients (2.3%) had a delayed hemorrhage and three (1.7%) were hospitalized in a neurosurgery ward. No cases of symptomatic hemorrhage were identified. No surgery was needed, and all patients had their anticoagulation stopped. Complications during surveillance were reported in seven patients (3.9%), of which two required prolonged hospitalization.
Discussion: The rate of complications related with surveillance was higher than the rate of delayed hemorrhages. The initial period of in-hospital surveillance did not convey any advantage since the management of patients was never dictated by neurological changes. Post-surveillance tomography played a role in deciding about anticoagulation suspension and prolongation of hospitalization.
Conclusion: Delayed hemorrhage is a rare event and the need for surgery even rarer. The need for in-hospital surveillance should be reassessed.Introdução: O nosso protocolo nacional para traumatismos cranioencefálicos recomenda que doentes hipocoagulados com trauma craniano ligeiro e tomografia inicial sem alterações traumáticas intracranianas sejam hospitalizados 24 horas e façam uma tomografia computorizada pós-vigilância. O principal objetivo deste estudo foi avaliar a relevância clínica dessas medidas. Material e Métodos: Foi realizado em quatro hospitais um estudo prospetivo e observacional. Foram incluídos adultos hipocoagulados com trauma craniano e tomografia normal. Os principais outcomes avaliados foram: taxa de hemorragia intracraniana tardia, taxa de internamento numa enfermaria de neurocirurgia, taxa de complicações relacionadas com a vigilância e taxa de hospitalização prolongada por complicações. Resultados: Foram incluídos um total de 178 doentes. Quatro doentes (2,3%) apresentaram hemorragia tardia e três (1,7%) foram mantidos hospitalizados numa enfermaria de Neurocirurgia. Não foram documentados casos de hemorragia tardia sintomática. Nenhuma cirurgia foi necessária e em todos estes doentes a anticoagulação foi interrompida. Durante a vigilância, foram relatadas complicações em sete doentes (3,9%), dos quais dois exigiram hospitalização prolongada. Discussão: A taxa de complicações relacionadas com a vigilância foi maior do que a taxa de hemorragia tardia. O período inicial de vigilância intra-hospitalar não trouxe qualquer vantagem, já que o manejo dos doentes nunca foi ditado por alterações neurológicas. A tomografia pós-vigilância desempenhou um papel importante na decisão sobre a suspensão da anticoagulação e o prolongamento da hospitalização. Conclusão: A hemorragia tardia é um evento raro e a necessidade de cirurgia ainda mais. Deve ser reavaliada a necessidade de vigilância intra-hospitalar.info:eu-repo/semantics/publishedVersio
Cancellation on the Day of Surgery in an Ambulatory Setting Due to Patient Factors: A Preliminary Study
info:eu-repo/semantics/publishedVersio
Uso de Hipotermia Induzida no Colapso Súbito Pós-Natal: Um Estudo Retrospetivo
Introduction: Sudden and unexpected postnatal collapse is a rare event with potentially dramatic consequences. Intervention approaches are limited, but hypothermia has been considered after postnatal collapse. The aim of this study was to analyse sudden and unexpected postnatal collapse cases that underwent therapeutic hypothermia in the five Portuguese hypothermia centres.
Material and methods: In this multicentre, retrospective and descriptive study, clinical, ultrasonography, amplitude-integrated electroencephalography and brain magnetic resonance findings of newborns with postnatal collapse that underwent therapeutic hypothermia are reported (2010 - 2018). Statistical analysis was performed by using IBM SPSS Statistics version 21.
Results: Twenty-two cases of sudden and unexpected postnatal collapse were referred for therapeutic hypothermia (82% outborn), all ≥ 36 weeks, with Apgar 5´ ≥ 8. Collapse occurred during the first two hours in 73% (all < 24 hours), 50% during skin-to-skin care, 55% related to feeding and 23% during co-bedding. Moderate-severe encephalopathy and severe acidosis were observed (median: Thompson score 16, pH 6.90, base deficit 22 mmol/L). Amplitude-integrated electroencephalogram was abnormal in 95% and magnetic resonance imaging showed severe brain injury in 46%. The mortality rate was 50%. A possible cause was identified in 27%.
Discussion: The incidence rate of 2.7 sudden cases of postnatal collapse per 100 000 births, is possibly under-estimated. All infants suffered the collapse in the first day, mostly within the first two hours, as reported before. Possible causes were identified in less than a third of cases, but multiple predisposing conditions were identified, suggesting that prevention may be possible. Newborn positioning and skin-to-skin care have been the most discussed practices. A significant proportion of infants had poor outcomes. Lower Thompson score, electroencephalogram amplitude normalization and normal magnetic resonance imaging seemed to indicate better outcomes. Although conclusive trials on therapeutic hypothermia after postnatal collapse are not available, its use has been considered individually. No severe adverse effects directly related to hypothermia were registered in this study, but the results do not allow drawing meaningful conclusions.
Conclusion: In our national sample of 22 infants who suffered sudden and unexpected postnatal collapse and underwent therapeutic hypothermia, a significant proportion had poor outcomes. Absolute conclusions from our experience with hypothermia in postnatal collapse cannot be drawn, but systematic reporting of cases and long-term clinical evaluation would facilitate understanding of the real benefits of hypothermia. As this procedure has not been validated with clinical trials for this indication, its use should be considered on a case-by-case approach. The potentially avoidable nature of unexpected postnatal collapse is evident from its association with certain behaviours and risk factors. Surveillance practices during the first hours should be implemented, whilst the benefits of breastfeeding and skin-to-skin care should continue to be widely promoted.info:eu-repo/semantics/publishedVersio
Hemangioendotelioma hepático infantil num recém-nascido
Infantile hepatic hemangioendothelioma is the most common benign hepatic vascular tumor in infants younger than six months and may undergo spontaneous regression during the first years of life.
Diagnosis of these lesions in preterm newborns can be challenging, with its timing and accuracy relevant to avoid inappropriate therapeutic measures.info:eu-repo/semantics/publishedVersio
A nova lei de bases da saúde – um processo ainda não terminado
info:eu-repo/semantics/publishedVersio
Atitude expetante? Abordagem portuguesa à otite média com efusão
Introduction and objective: Otitis media with effusion (OME) is an important public health problem. Several clinical practice guidelines for diagnosis and treatment of OME are in place, including from the American Academy of Otolaryngology-Head and Neck Surgery (AAO-HNS). This study aimed to evaluate the clinical practice of OME diagnosis and treatment among the Otolaryngology medical community working in Portugal.
Material and methods: A questionnaire was developed based on AAO-HNS guidelines regarding placement of tympanostomy tubes in children. Each directive was transformed into a question, and further questions were added to improve the characterization of the population and its practices.
Results: Answers provided agreed with “recommendations” and “recommendations against” enunciated in the guidelines. The exceptions were recommendations regarding the adoption of measures to prevent water from entering the external ear canal of children with tympanostomy tubes and the use of drugs. Questions asked outside guidelines scope revealed that 96.7% of doctors consider children’s age and 49.1% wait for the end of summer when deciding about surgery for tube placement, 68% recommend bathing in beaches, and 21.9% recommend mineral water treatment.
Conclusion: These results suggest that Portuguese otolaryngologists act according to the latest international guidelines and consider factors like season, bathing in beaches, and mineral water treatment in surgical or treatment decisions.info:eu-repo/semantics/publishedVersio
Síndrome de Moebius – melhorar o prognóstico com tratamentos cirúrgicos e de reabilitação de ponta
Moebius Syndrome (MBS) is a rare disorder, characterized by congenital, non-progressive facial palsy and other cranial and limb defects. A typical “mask-like” appearance, drooling, and indistinct speech comprise the dominant features.
Treatment focuses on correcting deformities and enhancing functionality. Surgical free functional muscle transfer (FFMT) is the gold standard for facial reanimation. A comprehensive rehabilitation program addressing motor, cognitive, and social impairment is paramount, despite the scarcity of knowledge regarding MBS rehabilitation, especially concerning central nervous system reorganization.
A six-year-old boy with MBS received treatment in our Department since the age of four months, including speech, physical, and occupational therapy. Recently, he underwent facial reanimation surgery.
The authors believe that rehabilitation improved the patient’s outcome by enhancing cortical representation before and neuroplasticity after surgery. Coordination of both interventions seems pivotal to fully address MBS.info:eu-repo/semantics/publishedVersio
IL-31 and IL-8 in Cutaneous T-Cell Lymphoma: Looking for Their Role in Itch
The itch associated with cutaneous T-cell lymphoma (CTCL), including Mycosis Fungoides (MF) and Sézary syndrome (SS), is often severe and poorly responsive to treatment with antihistamines. Recent studies have highlighted the possible role of interleukins in nonhistaminergic itch. We investigated the role of IL-31 and IL-8 in CTCL, concerning disease severity and associated itch. Serum samples of 27 patients with CTCL (17 MF and 10 SS) and 29 controls (blood donors) were analyzed for interleukin- (IL-) 31 and IL-8; correlations with disease and itch severity were evaluated. IL-31 serum levels were higher in CTCL patients than in controls and higher in SS than in MF. Also, serum IL-31 levels were higher in patients with advanced disease compared to those with early disease, and they correlated positively with lactate dehydrogenase and beta 2-microglobulin levels, as well as with the Sézary cell count. Itch affected 67% of CTCL patients (MF: 47%; SS: 100%). Serum IL-31 levels were higher in itching patients than in controls and in patients without itching. There was no association between serum IL-8 and disease severity, nor with itching. Serum IL-8 levels correlated positively with peripheral blood leukocyte and neutrophil counts in CTCL patients. Our study suggests a role for IL-31 in CTCL-associated itch, especially in advanced disease and SS, offering a rational target for new therapeutic approaches. Increased serum IL-8 observed in some patients may be related to concomitant infections, and its role in exacerbating itch by recruiting neutrophils and promoting the release of neutrophil proteases deserves further investigationinfo:eu-repo/semantics/publishedVersio
Impact of the COVID-19 pandemic in the Portuguese population: Consumption of alcohol, stimulant drinks, illegal substances, and pharmaceuticals
Background: The measures implemented by governments worldwide to control and prevent the spread of the COVID-19 have impacted the populations and directly influenced individuals' quality of life and consumption habits.
Objective: This work investigates the Portuguese population's changes in alcohol, stimulants drinks, illegal substances, and pharmaceutical consumptions habits during the COVID-19 pandemic.
Methods: An online questionnaire comprising seven groups of questions-with one group referring to alcohol, stimulant drinks, illegal substances, and pharmaceuticals consumption habits-was made available to the general adult population of mainland Portugal from the 26th January through the 31st of March 2021. After applying the inclusion criteria, 1666 questionnaires were selected and analysed using descriptive and inferential statistics.
Results: Our results show that 48.9% of the participants have alcohol drinking habits and increased their alcohol consumption by 16% after the beginning of the COVID-19 pandemic lockdown. Furthermore, 8.7% of the respondents felt the need to increase their consumption of stimulant drinks, especially coffee, the most consumed stimulant drink (77.9%). We also observed that of the 3.1% of respondents who are usual consumers of illegal substances, 26.9% increased their consumption of these substances during the COVID-19 pandemic. Concerning pharmaceuticals, 23.2% of the respondents expressed their need to take a therapeutic drug after the start of the COVID-19 pandemic. The profile of common consumers of alcohol, stimulant drinks, illegal substances, and pharmaceuticals in the COVID-19 pandemic context is contrasting and varies according to gender, age, and employment status.
Conclusions: The COVID-19 pandemic led to an increase in the consumption of alcohol, stimulant drinks, illegal substances, and pharmaceuticals prescribed to treat anxiety, depression, and sleep changes in the Portuguese population. These new consumption patterns have probably aggravated domestic violence, mental diseases, and impairment of family quality of life in the Portuguese population.info:eu-repo/semantics/publishedVersio
Utility of Gene Panels for the Diagnosis of Inborn Errors of Metabolism in a Metabolic Reference Center
Next-generation sequencing (NGS) technologies have been proposed as a first-line test for the diagnosis of inborn errors of metabolism (IEM), a group of genetically heterogeneous disorders with overlapping or nonspecific phenotypes. Over a 3-year period, we prospectively analyzed 311 pediatric patients with a suspected IEM using four targeted gene panels. The rate of positive diagnosis was 61.86% for intermediary metabolism defects, 32.84% for complex molecular defects, 19% for hypoglycemic/hyperglycemic events, and 17% for mitochondrial diseases, and a conclusive molecular diagnosis was established in 2-4 weeks. Forty-one patients for whom negative results were obtained with the mitochondrial diseases panel underwent subsequent analyses using the NeuroSeq panel, which groups all genes from the individual panels together with genes associated with neurological disorders (1870 genes in total). This achieved a diagnostic rate of 32%. We next evaluated the utility of a tool, Phenomizer, for differential diagnosis, and established a correlation between phenotype and molecular findings in 39.3% of patients. Finally, we evaluated the mutational architecture of the genes analyzed by determining z-scores, loss-of-function observed/expected upper bound fraction (LOEUF), and haploinsufficiency (HI) scores. In summary, targeted gene panels for specific groups of IEMs enabled rapid and effective diagnosis, which is critical for the therapeutic management of IEM patients.This study was supported with a grant from ISCIII (PI13/02177)info:eu-repo/semantics/publishedVersio