Centro Hospitalar do Porto
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Tatuagem lombar e analgesia de trabalho de parto: um caso de abordagem cirúrgica
Get PDFIntroduction: Pregnant women with lumbar tattoo presenting for labour analgesia are currently increasing in number. Many anaesthesiologists are hesitant in placing an epidural catheter over a lumbar tattoo based on a theory that tissue coring of fragments of tattoo pigment into the epidural, subdural or subarachnoid space, could lead to epidermoid tumours or arachnoiditis. For these reasons, it has been recommended to avoid the introduction of epidural needle directly through skin with tattoo pigments.
Case Report: We describe a case where the placement of the epidural catheter was made after a surgical incision of the skin to obtain a puncture field free from ink pigment.
Conclusion: Surgical approach to epidural catheter placement reduces the risk of the pigment-entrainment phenomenon from the skin to the epidural space.info:eu-repo/semantics/publishedVersio
Rhabdomyosarcoma of the soft palate: a diagnostic challenge
Get PDFntrodução: Os Rabdomiossarcomas (RMS) representam 50% dos sarcomas de tecidos moles em idade pediátrica. 10- 30% dos RMS da cabeça e pescoço têm a sua origem na cavidade oral e faringe. Quando estas lesões apresentam um crescimento rápido, atingindo grandes dimensões, podem causar sintomas potencialmente graves.
Caso Clínico: Criança do sexo masculino, de dez anos que recorreu à urgência de Otorrinolaringologia por lesão volumosa do palato mole de crescimento rápido, condicionando odinofagia e disfagia (previamente tratada como lesão inflamatória). Foi submetido a excisão subtotal da lesão, tendo o exame histológico revelado rabdomioma. Após três meses, houve novo crescimento rápido da lesão. Foi realizada nova biópsia excisional com exame extemporâneo compatível com benignidade. O diagnóstico definitivo revelou Rabdomiossarcoma.
Discussão/Conclusões: Os autores demonstram com este caso que o diagnóstico dos RMS pode constituir um desafio. Enfatizam também a importância da orientação precoce e multidisciplinar em crianças com lesões de crescimento rápido.info:eu-repo/semantics/publishedVersio
Association between Polymorphisms in Antioxidant Genes and Inflammatory Bowel Disease
Get PDFInflammation is the driving force in inflammatory bowel disease (IBD) and its link to oxidative stress and carcinogenesis has long been accepted. The antioxidant system of the intestinal mucosa in IBD is compromised resulting in increased oxidative injury. This defective antioxidant system may be the result of genetic variants in antioxidant genes, which can represent susceptibility factors for IBD, namely Crohn's disease (CD) and ulcerative colitis (UC). Single nucleotide polymorphisms (SNPs) in the antioxidant genes SOD2 (rs4880) and GPX1 (rs1050450) were genotyped in a Portuguese population comprising 436 Crohn's disease and 367 ulcerative colitis patients, and 434 healthy controls. We found that the AA genotype in GPX1 is associated with ulcerative colitis (OR = 1.93, adjusted P-value = 0.037). Moreover, we found nominal significant associations between SOD2 and Crohn's disease susceptibility and disease subphenotypes but these did not withstand the correction for multiple testing. These findings indicate a possible link between disease phenotypes and antioxidant genes. These results suggest a potential role for antioxidant genes in IBD pathogenesis and should be considered in future association studies.This work was supported by a grant from the Portuguese Study Group for Inflammatory Bowel Disease (GEDII) [http://www.gedii.pt/_bolsas_e_premios_a_decorrer]. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscriptinfo:eu-repo/semantics/publishedVersio
Health-Related Quality of Life in Portuguese Patients with Chronic Hepatitis C
Get PDFINTRODUCTION:
Chronic hepatitis C virus (HCV) infection impacts multiple health and psychosocial dimensions and encompasses a significant overall burden as it progresses to advanced stages of hepatic disease.
AIMS:
To evaluate for the first time health-related quality of life (HRQoL) of a subset of Portuguese adult patients with chronic hepatitis C using the Portuguese versions of generic, Short-Form 12 Health Survey (SF-12v2), and disease-specific, Chronic Liver Disease Questionnaire (CLDQ), instruments; to assess psychometric properties of CLDQ, Portuguese version.
METHODS:
HRQoL was evaluated in Portuguese adult outpatients with chronic hepatitis C attending the Hepatology Clinic at Centro Hospitalar do Porto, using SF-12v2 and CLDQ. This transversal study was conducted between April and October 2015.
RESULTS:
Eighty outpatients with chronic hepatitis C were enrolled, with mean age 57 years (standard deviation 11), 67.5% male, all Caucasian, 76.3% diagnosed for >10 years, 66.3% with C virus genotype 1, 65.0% with hepatic cirrhosis (94.2% of which Child-Pugh A), and 46.3% under current antiviral treatment. For CLDQ internal consistency, Cronbach's α was 0.88; for construct validity, correlations ranged from 0.36 to 0.80 (p < 0.01). Mean CLDQ scores ranged from 4.25 (Worry) to 5.78 (Abdominal Symptoms). Lower scores were observed for Worry, Fatigue, and Emotional Function domains. Statistically significant differences were found in median values of Worry (CLDQ) and Role Emotional (SF-12) (p < 0.05) for "current antiviral treatment," with higher scores for patients that concluded therapy.
CONCLUSION:
HRQoL was negatively affected in several domains in Portuguese patients with chronic hepatitis C; oral antiviral treatment correlated with better quality of life, assuring its benefits on this population; the CLDQ Portuguese version revealed adequate psychometric properties, and was useful in assessing quality of life in Portuguese HCV patients.info:eu-repo/semantics/publishedVersio
Importance of immunogenicity testing for cost-effective management of psoriasis patients treated with adalimumab
Get PDFINTRODUCTION:
Up to 30% of patients treated with anti-tumor necrosis factor drugs do not respond adequately, and up to 50% lose response over time. Immunogenicity is now known to be one of the main causes of this loss of response.
METHODS:
Serum levels of adalimumab and anti-drug antibodies (ADAs) were measured in 19 patients with psoriasis.
RESULTS:
Eighty-nine percent of the patients were responders (Psoriasis Area Severity Index (PASI) > 75) and 11% were partial responders (PASI 50-75). The serum levels of adalimumab were lower than the cutoff in both of the partial responders and the ADAs were high, whereas the other 17 patients had adalimumab levels above the cutoff and low ADA levels. Both partial responders were obese and none of them were taking methotrexate. Both patients switched to ustekinumab, and a PASI 90 response was observed after 16 weeks.
CONCLUSION:
Immunogenicity is a risk of biological drugs. In this work, the detection of low levels of adalimumab and high levels of ADAs using a sandwich ELISA correlated with loss of clinical response. Testing immunogenicity and the drug pharmacokinetics of biological drugs in psoriasis patients will probably be part of the daily management of these patients in the future.info:eu-repo/semantics/publishedVersio
Influência do Índice de Massa Corporal e da Dieta na Fisiopatologia da Acne Vulgaris
Get PDFAcne vulgar é uma patologia multifatorial que afeta principalmente adolescentes e jovens adultos e que se pode manifestar como lesões inflamatórias ou não inflamatórias. Esta doença acarreta morbilidade significativa, tanto física como psicológica. Está cientificamente comprovada a importância de diversos fatores, tanto genéticos como ambientais, na sua patogénese, tendo sido descritas nomeadamente associações com a dieta ocidental, índice de massa corporal excessivo e a resistência à insulina. Neste artigo é efetuada revisão da atual literatura relativa à acne vulgar, com enfoque na fisiopatologia e influência destes fatores na sua desregulação. O melhor conhecimento da fisiopatologia da acne e a avaliação crítica do papel da dieta, bem como da obesidade e da desregulação do sistema endócrino, podem contribuir para uma abordagem mais científica dos fatores exógenos que contribuem no início e agravamento desta interessante e frequente patologia.info:eu-repo/semantics/publishedVersio
CHROMOSOMAL INSTABILITY AND IMMUNODEFICIENCY – ESSENTIAL FOR THE DIAGNOSIS OF NIJMEGEN SYNDROME
No full textIntrodução: O Síndrome de Quebras de Nijmegen (SQN), é uma doença autossómica recessiva rara, pertencente ao grupo dos síndromes de instabilidade cromossómica, sendo mais prevalente na europa central e do leste.
Caso clínico: Descreve-se o caso de um rapaz de 14 meses, filho de pais ucranianos, que nasceu pequeno para a idade gestacional, com microcefalia e dismorfias faciais, que se tornaram mais evidentes com o crescimento. O estudo complementar revelou instabilidade cromossómica espontânea e induzida, hemoglobina fetal e α-fetoproteína normais e imunodeficiência celular. Estas características sugeriram o diagnóstico de SQN, confirmado pela identificação da mutação fundadora (657del5) em homozigotia, comum na população eslava.
Discussão: O SQN deve ser considerado na presença de microcefalia, características faciais típicas, atraso de crescimento, instabilidade cromossómica e imunodeficiência. O prognóstico é desfavorável pela ocorrência de infeções de repetição e elevada incidência de neoplasias. O seguimento multidisciplinar e a evicção da exposição a radiação ionizante são fundamentais.Introduction: Nijmegen breakage syndrome (NBS) is a rare autosomal recessive disorder that belongs to the group of chromosomal instability syndromes, more prevalent in Central and Eastern Europe.
Clinical case: We describe the case of a 14-month-old boy, born to Ukrainian parents, that presented at birth with microcephaly, small to gestational age and dysmorphic facial characteristics, which became more obvious with age. The complementary study revealed spontaneous and induced chromosomal instability, with normal fetal haemoglobin and α-fetoprotein and cellular immunodeficiency. These features suggested NBS, confirmed by the identification of the founder mutation (657del5) in homozygous state, common in patients of Slavic origin.
Discussion: NBS should be considered in the presence of microcephaly, typical facial features, growth retardation, chromosomal instability and immunodeficiency. The prognostic is poor due to the occurrence of frequent infections and the high incidence of cancer. Multidisciplinary follow-up and avoidance of radiation exposition are crucial.info:eu-repo/semantics/publishedVersio
Caso oftalmológico
No full textIntroduction: Limbal dermoids are benign congenital tumours that contain choristomatous elements. These lesions are present at birth but may not be easily identified until later in life.
Case report: We report a case of a one-day-old newborn, female, with no relevant gestational or neonatal history, referred to our pediatric ophthalmologic unit because of a whitish round mass in the inferotemporal limbus of the left eye. Clinical examination confirmed the diagnosis of limbal dermoid cyst, and she was referred to ophthalmologic consultation for clinical follow-up.
Discussion: The diagnosis of limbal dermoids is established by the presence of a yellow/white solid tumour located at the limbus. These lesions have been classified into three grades. The treatment for grade I pediatric limbal dermoids is initially conservative. In stages II and III, a combination of simple excision, lamellar keratoplasty, sutureless amniotic membrane and limbal stem cell tranplantation may be necessary. Prognosis is generally favourable.Introdução: Os dermóides límbicos são tumores benignos que contêm coristomas. Estas lesões estão presentes desde o nascimento, mas podem não ser facilmente reconhecidas até idades mais avançadas.
Caso Clínico: Descrevemos o caso de um recém-nascido, do sexo feminino, com um dia de vida, sem antecedentes pré-natais ou neonatais de relevo, referenciada ao Serviço de Oftalmologia do nosso centro por apresentar uma tumefacção arredondada e esbranquiçada na região inferotemporal do limbo do olho esquerdo. A observação clinica confirmou o diagnóstico de quisto dermóide límbico, tendo sido orientada para consulta de oftalmologia para monitorização clinica.
Discussão: O diagnóstico dos dermóides límbicos estabelece-se pela presença de uma massa tumoral sólida de coloração amarelada/esbranquiçada na região límbica. Estas lesões têm sido classificadas em três graus. Atualmente, o tratamento dos dermóides límbicos de grau I é inicialmente conservador. Por outro lado, nos de grau II ou III, uma combinação de excisão simples, queratoplastia lamelar, aplicação de membranas amnióticas e transplante de células límbicas podem ser necessárias. O prognóstico é geralmente favorável.info:eu-repo/semantics/publishedVersio
Caso imagiológico
No full textIntroduction: Calcaneal osteomyelitis is a relatively rare entity and may be underdiagnosed for not being correctly recognized.
Case report: An eight-year-old white boy presented with heel pain and an inability to weight-bearing. The condition was misdiagnosed as Sever’s disease so he was discharged with symptomatic treatment. Magnetic resonance imaging two weeks after clinical onset revealed diffuse osteomyelitis of his calcaneum. He underwent six weeks of antibiotics administered intravenously, with clinical improvement. In one year of follow-up he has no evidence of complications.
Discussion: Paediatricians should include calcaneal osteomyelitis as a differential diagnosis in any child/adolescent presenting with indolent heel pain. Delays in the diagnosis can lead to disastrous complications.Introdução: A osteomielite do calcâneo é uma entidade clinica relativamente rara e pode ser subdiagnosticada por não ser corretamente reconhecida.
Caso Clínico: Criança de oito anos de idade, raça caucasina, observada no serviço de urgência por dor no calcanhar direito e incapacidade na marcha. Foi inicialmente diagnosticada de doença de Sever, pelo que foi medicada sintomaticamente. A Ressonância Magnética duas semanas após o início da sintomatologia revelou osteomielite difusa de calcâneo. Cumpriu seis semanas de antibioterapia endovenosa com melhoria clínica. No follow-up no ano seguinte, não apresentou evidência de complicações.
Discussão: Os pediatras devem incluir a osteomielite do calcâneo no diagnóstico diferencial da criança/adolescente que apresenta dor indolente do calcanhar. Os atrasos diagnósticos podem conduzir a complicações desastrosas.info:eu-repo/semantics/publishedVersio
Genetic disruption of NRF2 promotes the development of necroinflammation and liver fibrosis in a mouse model of HFE-hereditary hemochromatosis
Get PDFIn hereditary hemochromatosis, iron deposition in the liver parenchyma may lead to fibrosis, cirrhosis and hepatocellular carcinoma. Most cases are ascribed to a common mutation in the HFE gene, but the extent of clinical expression is greatly influenced by the combined action of yet unidentified genetic and/or environmental modifying factors. In mice, transcription factor NRF2 is a critical determinant of hepatocyte viability during exposure to acute dietary iron overload. We evaluated if the genetic disruption of Nrf2 would prompt the development of liver damage in Hfe(-/-) mice (an established model of human HFE-hemochromatosis).This work was supported by National funds through Fundação para a Ciência e a Tecnologia/Ministério da Educação e Ciência (PTDC/SAU-FCF/101177/2008, PTDC/BIM-MET/0739/2012 and SFRH/BPD/108207/2015), by FEDER funds through the COMPETE – Operational Competitiveness Programme (FCOMP-01-0124-FEDER-011062 and FCOMP-01-0124-FEDER-028447) and Project Norte-01-0145-FEDER-000012, supported by Norte Portugal Regional Operational Programme (NORTE 2020), under the PORTUGAL 2020 Partnership Agreement, through the European Regional Development Fund (FEDER), and by Reitoria da Universidade do Porto/Santander through PP-IJUP2011-122.info:eu-repo/semantics/publishedVersio