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Intralobar pulmonary sequestration: diagnostic expertise
Get PDFAn obese 22-year-old man with a history of recurrent respiratory infections presented to the emergency room with left pleuritic chest pain, productive cough with mucupurulent sputum and an axillary temperature of 37.7°C. Blood work showed elevated inflammatory parameters and chest X-ray was relevant for heterogeneous infiltration in the left base and opacity of the left costophrenic angle. An angio-CT scan revealed areas of bilateral consolidation with presence of an arterial branch originating from the aorta to the collected area of the left lower lobe, consistent with a respiratory infection grafted on a intralobar pulmonary sequestration of the left lung base. The infectious process was treated and the patient was planned for a lower left lobectomy
Massa intracardíaca – um desafio diagnóstico!
Get PDFA prevalência do linfoma de burkitt em indivíduos com VIH é cerca de 20-30%, contudo o atingimento cardíaco desta entidade é raro, reportando-se a casos pontuais.
Os autores descrevem o caso de um homem de 64 anos com antecedentes de hipertensão, tabagismo e serologias positivas para VIH 1 e HCV desde 2004, sem seguimento em consulta de infecciologia. Recorreu ao serviço de urgência por episódio de síncope precedida de palpitações, seguida de náusea, vómito alimentar e tonturas. Reportava episódio semelhante 2 meses antes, mas de menor intensidade. Referia ainda astenia de longa data, negando outros sintomas do foro cardiovascular. Ao exame objetivo apresentava-se taquicárdico (FC 120/min), sem outras alterações. O eletrocardiograma evidenciou ritmo sinusal com ectopia ventricular em padrão de trigeminismo e onda T invertida em I, aVL, V3-V6. Analiticamente, salientava-se apenas subida ligeira isolada de TropI (0,32 ng/dl) e CD4 total 47/uL. O ecocardiograma transtorácico evidenciou função sistólica biventricular conservada; massa ecodensa heterogénea (30x25mm), ao nível da aurícula direita, envolvendo o anel da tricúspide/junção auriculoventricular e segmento basal da parede livre do ventrículo direito, parecendo estender-se até ao pericárdio. Realizou TC toraco-abdomino-pélvica que confirmou imagens descritas no ecocardiograma e acrescentou adenomegalias pericardíacas, múltiplas imagens nodulares pulmonares bilaterais de natureza indeterminada; assimetria dimensional renal (rim direito maior) e focos hiperdensos bilateralmente. A RMN cardíaca identificou massa sólida, heterogénea, com áreas de captação de contraste, centrada na parede lateral da aurícula direita, estendendo-se inferiormente para o sulco AV e para a parede do ventrículo direito, invadindo o folheto posterior da válvula tricúspide, com 7,3x4,4x4,8 cm, bem como lesão nodular intramiocárdica no segmento apical septal e espessamento focal significativo do segmento basal anterior do ventrículo esquerdo. Adenomegalias mediastínicas, nódulos hepáticos foram também objetivados. O doente foi submetido a biopsia renal ecoguiada de uma das lesões renais à direita que demonstrou linfoma B de alto grau com características morfológicas e fenotípicas de linfoma de burkitt; estudo de translocação do gene c-MYC: t(8;14)(q24;q32). O aspirado medular não evidenciou atingimento medular. Foi transferido para o serviço de Oncologia e iniciou quimioterapia dirigida, tendo-se observado remissão das massa intracardíacas no ecocardiograma posterior.
Este caso ilustra a importância da multimodalidade de imagem no diagnóstico de um tumor altamente agressivo de apresentação clínica atípica
A transcriptomic signature mediated by HOXA9 promotes human glioblastoma initiation, aggressiveness and resistance to temozolomide
Get PDFGlioblastoma is the most malignant brain tumor, exhibiting remarkable resistance to treatment. Here we investigated the oncogenic potential of HOXA9 in gliomagenesis, the molecular and cellular mechanisms by which HOXA9 renders glioblastoma more aggressive, and how HOXA9 affects response to chemotherapy and survival. The prognostic value of HOXA9 in glioblastoma patients was validated in two large datasets from TCGA and Rembrandt, where high HOXA9 levels were associated with shorter survival. Transcriptomic analyses identified novel HOXA9-target genes with key roles in cancer-related processes, including cell proliferation, DNA repair, and stem cell maintenance. Functional studies with HOXA9-overexpressing and HOXA9-silenced glioblastoma cell models revealed that HOXA9 promotes cell viability, stemness and invasion, and inhibits apoptosis. Additionally, HOXA9 promoted the malignant transformation of human immortalized astrocytes in an orthotopic in vivo model, and caused tumor-associated death. HOXA9 also mediated resistance to temozolomide treatment in vitro and in vivo via upregulation of BCL2. Importantly, the pharmacological inhibition of BCL2 with the BH3 mimetic ABT-737 reverted temozolomide resistance in HOXA9-positive cells. These data establish HOXA9 as a driver of glioma initiation, aggressiveness and resistance to therapy. In the future, the combination of BH3 mimetics with temozolomide should be further explored as an alternative treatment for glioblastoma
Gestational diabetes: Determination of risk factors to diabetes mellitus
Get PDFObjetivos
Identificar fatores preditivos do desenvolvimento de diabetes mellitus (DM) em mulheres com antecedentes de diabetes gestacional (DG).
Tipo de estudo
Estudo observacional, analítico, retrospetivo e de coorte.
Local
Hospital de Braga.
População
Amostra aleatória de 300 mulheres, nascidas antes de 1995, com diagnóstico de DG entre 1 de janeiro de 2001 e 31 de dezembro de 2010 e seguimento da gravidez no Hospital de Braga.
Métodos
Os dados foram obtidos através da consulta de processos clínicos. A lista de doentes com DM, referente ao ano de 2011, foi utilizada para verificação do desenvolvimento da doença no grupo selecionado. Foram analisados o perfil sociodemográfico, os antecedentes pessoais, familiares e obstétricos e outros fatores anteparto. Foi realizada uma análise descritiva univariada e bivariada. Seguidamente foi criado um modelo de regressão logística binária para identificar potenciais preditores de desenvolvimento de DM tipo 2.
Resultados
Trinta e dois vírgula sete por cento das mulheres desenvolveu DM. A probabilidade de desenvolvimento de DM após DG aumentou 8,2 vezes quando idade gestacional menor que 24 semanas no momento do diagnóstico (OR = 8,19; p < 0,001), 3,4 vezes se necessidade de insulinoterapia (OR = 3,36; p < 0,001) e 3,1 vezes se índice de massa corporal (IMC) prévio = 26,4 kg/m2 (OR = 3,07; p = 0,003). História familiar de DM tipo 2, 4 valores elevados na prova de tolerância oral à glicose, valor de glicemia em jejum, idade materna no momento do diagnóstico e IMC pós-parto, apesar de apresentarem associação com desenvolvimento de DM não se revelaram seus preditores. Não se verificou associação entre gravidez prévia ou diagnóstico prévio de DG com desenvolvimento de DM.
Conclusões
Em mulheres com DG, a idade gestacional menor que 24 semanas no momento do diagnóstico, a necessidade de insulinoterapia e o IMC prévio = 26,4 kg/m2 apresentaram-se como fatores de risco para desenvolvimento de DM.
Aims: To identify predictive factors to diabetes mellitus (DM) development in women with history of
gestational diabetes (GD).
Study design: An observational, analytic, cohort retrospective study. Local: Hospital of Braga.
Population: A random sample of 300 women, born before 1995, with GD diagnosed since January 1, 2001
to December 31, 2010 and pregnancy surveillance in a public Hospital of Braga.
Methods: Data was collected by consultation of medical records. The DM patients’ list of 2011 was used to
verification of the disease development in the selected group. Sociodemographic profile, personal, family
and obstetric history, and other antepartum factors were analyzed. A univariate descriptive analysis and
a bivariate analysis were performed. A binary logistic regression model was created to identify potential
predictors of type 2 DM development.
Results: 32.7% of women developed DM. The probability of DM development after GD was increased
8.2 times when gestational age at diagnosis was less than 24 weeks (OR = 8.19; p < 0.001), 3.4 times with
the need of insulin therapy (OR = 3.36; p < 0.001) and 3.1 times with previous pregnancy body mass index
(BMI) ≥ 26.4 kg/m2 (OR = 3.07; p = 0.003). Although family history of type 2 DM, maternal age at diagnosis,
postpartum BMI, 4 abnormal values in the diagnostic oral glucose tolerance test and fasting glucose level
had presented association with DM development, did not present as its predictors. It was not verified
association between previous pregnancy or previous GD diagnosis and DM development.
Conclusions: In women with GD, gestational age at diagnosis less than 24 weeks, need of insulin therapy and previous pregnancy BMI ≥ 26.4 kg/m2 were presented as risk factors to DM development
Noninvasive anatomical and functional assessment of coronary artery disease.
Get PDFINTRODUCTION AND OBJECTIVE:
In suspected coronary artery disease (CAD), invasive coronary angiography (ICA) is traditionally the diagnostic tool of choice. However, patients often have no significant disease. Moreover, assessment of fractional flow reserve (FFR) has been shown to have prognostic implications. Recently, coronary computed tomography angiography (CTA) and cardiac magnetic resonance (CMR) myocardial perfusion imaging (CMR-Perf) have gained increasing attention through their accurate anatomical and functional assessment, respectively. We studied the added value of integrating these tests (CT+CMRint) in the diagnosis of CAD, with FFR as the reference standard.
METHODS:
We included 101 patients consecutively referred for outpatient assessment of CAD who underwent CTA and CMR-Perf prior to ICA with FFR assessment. Lesions were considered positive by CT+CMRint only if positive in the two tests alone. The mean follow-up was 2.9±0.6 years.
RESULTS:
All patients completed the study protocol without adverse effects. Forty-four patients had CAD by FFR. CTA had excellent sensitivity and negative predictive value (100%) but, as expected, its specificity and positive predictive value were lower (61% and 67%, respectively). Diagnostic accuracy by FFR was 78% for CTA, 88% for CMR-Perf and 92% for CT+CMRint. Regarding diagnostic accuracy, CT+CMRint showed statistically significant superiority (AUC=0.917, 95% CI 0.845-0.963) compared with CTA (AUC=0.807, 95% CI 0.716-0.879, p=0.0057) or CMR-Perf (AUC=0.882, 95% CI 0.802-0.938, p=0.0398) alone. Regarding prediction of revascularization, the integrated protocol maintained its superior performance.
CONCLUSIONS:
CT+CMRint showed superior diagnostic accuracy and could thus lead to a considerable reduction in invasive procedures for CAD diagnosis, with less risk and greater patient comfort
Unique Tracheal Fluid MicroRNA Signature Predicts Response to FETO in Patients With Congenital Diaphragmatic Hernia.
Get PDFOBJECTIVE AND BACKGROUND::
Our objective was to determine the fetal in vivo microRNA signature in hypoplastic lungs of human fetuses with severe isolated congenital diaphragmatic hernia (CDH) and changes in tracheal and amniotic fluid of fetuses undergoing fetoscopic endoluminal tracheal occlusion (FETO) to reverse severe lung hypoplasia due to CDH.
METHODS::
We profiled microRNA expression in prenatal human lungs by microarray analysis. We then validated this signature with real-time quantitative polymerase chain reaction in tracheal and amniotic fluid of CDH patients undergoing FETO. We further explored the role of miR-200b using semiquantitative in situ hybridization and immunohistochemistry for TGF-β2 in postnatal lung sections. We investigated miR-200b effects on TGF-β signaling using a SMAD-luciferase reporter assay and Western blotting for phospho-SMAD2/3 and ZEB-2 in cultures of human bronchial epithelial cells.
RESULTS::
CDH lungs display an increased expression of 2 microRNAs: miR-200b and miR-10a as compared to control lungs. Fetuses undergoing FETO display increased miR-200 expression in their tracheal fluid at the time of balloon removal. Future survivors of FETO display significantly higher miR-200 expression than those with a limited response. miR-200b was expressed in bronchial epithelial cells and vascular endothelial cells. TGF-β2 expression was lower in CDH lungs. miR-200b inhibited TGF-β-induced SMAD signaling in cultures of human bronchial epithelial cells.
CONCLUSIONS::
Human fetal hypoplastic CDH lungs have a specific miR-200/miR-10a signature. Survival after FETO is associated with increased miR-200 family expression. miR-200b overexpression in CDH lungs results in decreased TGF-β/SMAD signaling
