Centro Hospitalar do Porto
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Melhoria de vasculite do sistema nervoso central em doente com hepatite C após tratamento com antivíricos de ação direta
Get PDFBackground: Neurosarcoidosis is a rare manifestation of hepatitis C virus (HCV) infection, mainly in patients exposed to interferon-based therapies. Although we are living in a new era of HCV treatment, there is still little data concerning the treatment of extrahepatic complications of the disease with direct antiviral agents, especially rare ones such as neurosarcoidosis. Summary: We present a rare case of central nervous system vasculitic lesions in the context of chronic HCV infection associated with mixed cryoglobulinemia, elevated angiotensin-converting enzyme (ACE) levels, and documentation of viral RNA in the cerebrospinal fluid in a treatment-naïve chronic HCV patient. Successful treatment with an interferon-free regimen improved all clinical manifestations, reduced the levels of serum ACE, and reduced the cryoglobulin levels to undetectable. Messages: Neurosarcoidosis and cryoglobulinemia are rare but well-recognized complications of HCV infection, even in treatment-naïve patients. Direct antiviral agents can be useful in the management of this condition.Introdução: A neurossarcoidose é uma manifestação rara da infeção por hepatite C, sobretudo associada a exposição prévia a esquemas com interferão. Apesar de estarmos numa nova era do tratamento da hepatite C, há ainda poucos dados em relação ao papel dos antivíricos de ação direta no tratamento das complicações extra-hepáticas da doença, especialmente as raras, como a neurossarcoidose. Sumário: Apresentamos um caso raro de vasculite do Sistema nervoso central associada a elevação dos níveis de enzima conversora da angiotensina, documentação de RNA viral no líquido cefalo-raquidiano num doente com infeção crónica a hepatite C sem tratamentos prévios. O tratamento com antivíricos de ação direta melhorou todas as manifestações clínicas, incluindo redução dos níveis de ECA e de crioglobulinas. Mensagens: A neurossarcoidose é uma rara, mas bem reconhecida complicação da hepatite C, mesmo em doentes sem exposição prévia a interferão. Os agentes de ação direta podem ser úteis na gestão de ambas as doenças.info:eu-repo/semantics/publishedVersio
Deficiência e seus correlatos clínicos na hipertensão pulmonar medidos pelo World Health Organization Disability Assessment Schedule 2.0: um estudo prospectivo e observacional
Get PDFObjective:
To characterise the degree of disability in pulmonary hypertension (PH) patients based on the World Health Organisation Disability Assessment Schedule 2.0 (WHODAS 2.0).
Method:
A prospective and observational study of patients with documented PH (N = 46). Patients completed the WHODAS 2.0 questionnaire during a scheduled routine clinical visit, and their demographic and clinical characteristics were retrieved from electronic medical records (EMR). In subsequent visits, selected clinical variables were registered to assess disease progression.
Results:
WHODAS 2.0 scores were indicative of mild to moderate disability for the domains of mobility (22.0 ± 23.2), life activities (23.7 ± 25.5), and participation in society (17.2 ± 15.9), as well as total WHODAS 2.0 score (15.3 ± 15.2). For the domains of cognition (9.1 ± 14.1), self-care (8.3 ± 14.4), and interpersonal relationships (11.7 ± 15.7), scores were lower. Disability scores were, generally, proportional to the PH severity. The main baseline correlates of disability were World Health Organisation (WHO) functional class, fatigue, dyspnoea, 6-minute walking distance (6MWD), and N-terminal pro b-type natriuretic peptide (NTproBNP). Baseline WHODAS 2.0 scores showed significant associations with disease progression. However, this effect was not transversal to all domains, with only a few domains significantly associated with disease progression variables.
Conclusions:
This PH population shows mild disability, with higher degree of disability in the domains of mobility and life activities. This study is the first one to assess disability in PH using WHODAS 2.0. Further studies should apply this scale to larger PH populations with suitable representations of more severe PH forms.Objetivo:
Caracterizar o nível de deficiência em pacientes com hipertensão pulmonar (HP) com base no World Health Organization Disability Assessment Schedule 2.0 (WHODAS 2.0).
Método:
Estudo prospectivo e observacional em pacientes com HP documentada (N = 46). Os pacientes completaram o questionário WHODAS 2.0 durante uma consulta de rotina, e seus dados demográficos e clínicos foram retirados de prontuários médicos eletrônicos. Nas visitas subsequentes, variáveis clínicas específicas foram registradas para avaliar a progressão da doença.
Resultados:
a pontuação no WHODAS 2.0 indicaram deficiência leve a moderada para os domínios de mobilidade (22,0 ± 23,2), atividades da vida (23,7 ± 25,5) e participação em sociedade (17,2 ± 15,9), assim como a pontuação total do WHODAS 2.0 (15,3 ± 15,2). Para os domínios de cognição (9,1 ± 14,1), autocuidado (8,3 ± 14,4) e relações interpessoais (11,7 ± 15,7), a pontuação foi mais baixa. Os pontos referentes à deficiência foram, em geral, proporcionais à gravidade da HP. Os principais parâmetros da deficiência foram a classificação de funcionalidade da Organização Mundial da Saúde (OMS), fatiga, dispneia, teste de caminhada de 6 minutos (TC6M), e a porção N-terminal do pró-hormônio do peptídeo natriurético do tipo B (NT-proBNP). Os valores de parâmetro do WHODAS 2.0 mostraram associações significativas com a progressão da doença. Porém, este efeito não foi transversal a todos os domínios; apenas alguns estiveram significativamente associados às variáveis da progressão da doença.
Conclusão:
Esta população com HP mostra deficiência leve, com níveis mais altos nos domínios de mobilidade e atividades da vida diária. Este estudo é o primeiro a avaliar a deficiência em HP usando o WHODAS 2.0. Outros estudos devem aplicar esta escala em populações maiores com HP, com representações de formas mais graves da HP.Pedro Sa-Couto’s work was supported in part by the Fundação para a Ciência e a Tecnologia (FCT), through Center for Research and Development in Mathematics and Applications (CIDMA), within project ID/MAT/04106/2013. The authors thank Tiago Campos, MSc (ARC Publishing), for providing medical writing and editorial assistance; these services were supported by an unrestricted grant from Actelion Pharmaceuticals, from Portugal.info:eu-repo/semantics/publishedVersio
Small bowel obstruction due to intraluminal metastasis from malignant melanoma
Get PDFThe most common form of presentation of malignant melanoma is cutaneous. However, it is important to notice that it can occur in any part of the body, mostly from metastatic route. Gastrointestinal forms of symptomatic metastasis are rare, making it sometimes difficult to diagnose. We present a rare case of an 84-year-old female with a small bowel obstruction due to melanoma metastasis. She was treated with an enterectomy, with no surgical or post-operative complications. Although surgery should be reserved from symptomatic patients, some authors refer to it as a palliative treatment with improvement in long-term survival.info:eu-repo/semantics/publishedVersio
Predictive model of response to tafamidis in hereditary ATTR polyneuropathy
Get PDFBACKGROUNDThe hereditary transthyretin (TTR) amyloidoses are a group of diseases for which several disease-modifying treatments are now available. Long-term effectiveness of these therapies is not yet fully known. Moreover, the existence of alternative therapies has resulted in an urgent need to identify patient characteristics that predict response to each therapy.METHODSWe carried out a retrospective cohort study of 210 patients with hereditary TTR amyloidosis treated with the kinetic stabilizer tafamidis (20 mg qd). These patients were followed for a period of 18-66 months, after which they were classified by an expert as responders, partial responders, or nonresponders. Correlations between baseline demographic and clinical characteristics, as well as plasma biomarkers and response to therapy, were investigated.RESULTS34% of patients exhibited an almost complete arrest of disease progression (classified by an expert as responders); 36% had a partial to complete arrest in progression of some but not all disease components (partial responders); whereas the remaining 30% continued progressing despite therapy (nonresponders). We determined that disease severity, sex, and native TTR concentration at the outset of treatment were the most relevant predictors of response to tafamidis. Plasma tafamidis concentration after 12 months of therapy was also a predictor of response for male patients. Using these variables, we built a model to predict responsiveness to tafamidis.CONCLUSIONOur study indicates long-term effectiveness for tafamidis, a kinetic stabilizer approved for the treatment of hereditary TTR amyloidosis. Moreover, we created a predictive model that can be potentially used in the clinical setting to inform patients and clinicians in their therapeutic decisions.info:eu-repo/semantics/publishedVersio
HFE Related Hemochromatosis: Uncovering the Inextricable Link between Iron Homeostasis and the Immunological System
Get PDFThe HFE gene (OMIM 235200), most commonly associated with the genetic iron overload disorder Hemochromatosis, was identified by Feder et al. in 1996, as a major histocompatibilty complex (MHC) class I like gene, first designated human leukocyte antigen-H (HLA-H). This discovery was thus accomplished 20 years after the realization of the first link between the then "idiopathic" hemochromatosis and the human leukocyte antigens (HLA). The availability of a good genetic marker in subjects homozygous for the C282Y variant in HFE (hereditary Fe), the reliability in serum markers such as transferrin saturation and serum ferritin, plus the establishment of noninvasive methods for the estimation of hepatic iron overload, all transformed hemochromatosis into a unique age related disease where prevention became the major goal. We were challenged by the finding of iron overload in a 9-year-old boy homozygous for the C282Y HFE variant, with two brothers aged 11 and 5 also homozygous for the mutation. We report a 20 year follow-up during which the three boys were seen yearly with serial determinations of iron parameters and lymphocyte counts. This paper is divided in three sections: Learning, applying, and questioning. The result is the illustration of hemochromatosis as an age related disease in the transition from childhood to adult life and the confirmation of the inextricable link between iron overload and the cells of the immune system.This research was partially supported by FEDER funds through COMPETE - and by Norte 2020 Portugal
Regional Operational Programme (Norte-01-0145-FEDER-000012)info:eu-repo/semantics/publishedVersio
Uncommon Movement Disorders in Chronic Hepatic Disease with Response to Rifaximin
Get PDFBackground: Chronic hepatic disease can present with extrapyramidal symptoms. We describe two cases that presented with highly unusual movement disorders: ballism and gait freezing.
Case report: Patient 1 is a 42-year-old man with previous episodes of hepatic encephalopathy (HE) who presented with upper limb dystonia and generalized chorea that progressed to ballism. Patient 2 is a 55-year-old woman who presented with pronounced gait freezing. In both patients, features of HE and acquired hepatocerebral degeneration coexisted. They improved markedly, though transiently, with rifaximin.
Discussion: Ammonia-reducing treatments should be considered in patients presenting with movement disorders due to chronic liver disease.info:eu-repo/semantics/publishedVersio
Economic Impact of Prosthetic Joint Infection - an Evaluation Within the Portuguese National Health System
Get PDFIntroduction:
Prosthetic infection is a devastating complication of arthroplasty and carries significant economic burden. The objective of this study was to analyze the economic impact of prosthetic hip and knee infection in Portuguese National Health System.
Material and Methods:
Case-control study carried out from January 2014 to December 2015. The mean costs of primary arthroplasties and prosthetic revision surgeries for non-infectious reasons were compared with the costs of prosthetic infections treated with debridement and preservation of the prosthesis or with two-stage exchange arthroplasty.The reimbursement for these cases was also evaluated and compared with its real costs.
Results:
A total of 715 primary arthroplasties, 35 aseptic revisions, 16 surgical debridements and 15 revisions for infectious reasons were evaluated. The cost of primary arthroplasties was 3,230€ in the hips and 3,618€ in the knees. The cost of aseptic revision was 6,089€ in the hips and 7,985€ in the knees. In the cases treated with debridement and implant retention the cost was 5,528€ in the hips and 4,009€ in the knees. In cases of infections treated with a two-stage revision the cost was 11,415€ and 13,793€ for hips and knees, respectively.
Conclusion:
As far as we know this is the first study that analyzes the economic impact of prosthetic infection in the Portuguese context. Although direct compensation for treating infected cases is much lower than calculated costs, infected cases push the overall hospital case-mix-index upwards thus increasing financial compensation for the entire cohort of treated patients. This knowledge will allow for more informed decisions about health policies in the future.info:eu-repo/semantics/publishedVersio
Prenatal Diagnosis and Management of a Fetal Goiter Hypothyroidism due to Dyshormonogenesis
Get PDFFetal goiter is a rare disorder not expected to be found during a healthy woman's pregnancy. It can be a prenatal manifestation of congenital hypothyroidism due to thyroid dyshormonogenesis and it can lead to serious perinatal complications. A vascularized fetal neck mass was detected at 29 weeks' gestation of a healthy primigravida. Magnetic resonance was suggestive of goiter causing airway deviation without polyhydramnios. Maternal thyroid function was normal and thyroid antibodies were negative. Two intra-amniotic levothyroxine infusions were performed at 32 and 33 weeks. Serial imaging control showed no progression of the mass. Elective caesarean section was performed at 38 weeks. The male newborn was admitted to the intensive care unit due to cardiorespiratory insufficiency with pulmonary hypertension. Hormonal assays revealed primary congenital hypothyroidism and ultrasonography confirmed diffuse goiter. Levothyroxine was started. Currently, he is 6 years old with adequate growth and normal psychomotor development. Genetic study found a heterozygous mutation in the TPO gene.info:eu-repo/semantics/publishedVersio
The successful treatment with ixekizumab in a multi-failure psoriasis patient
Get PDFWe report a patient with severe psoriasis who failed to respond to phototherapy, conventional systemic treatment and four biologic agents (etanercept, ustekinumab, adalimumab and secukinumab). Combination of a higher-dose secukinumab regimen with phototherapy had no success. Remarkably, ixekizumab, an IL-17A inhibitor, provided almost complete psoriasis clearance after 24 weeks of treatment. The reason for the success of ixekizumab after the failure to respond to a biologic with same mechanism of action is still unknown. Interestingly, failure of secukinumab does not preclude future therapeutic success with a second IL-17A-inhibitor.info:eu-repo/semantics/publishedVersio
Treatment of Prosthetic Joint Infection with Debridement, Antibiotics and Irrigation with Implant Retention - a Narrative Review
Get PDFProsthetic joint infection usually requires combined medical and surgical therapy. While revision surgery is widely considered to be the gold standard surgical procedure, debridement, antibiotics and irrigation with implant retention is a very appealing alternative. There is however great controversy regarding its real worth with success rates ranging from 0% to over 90%. A number of different patient and host related variables as well as specific aspects of surgical and medical management have been described as relevant for the final outcome. Along this paper, the authors will provide the readers with a critical narrative review of the currently available literature while trying to provide concise and practical treatment recommendations regarding adequate patient selection criteria, proper surgical technique and optimal antibiotic therapy.info:eu-repo/semantics/publishedVersio