A Rare Presentation of Multi-Organ Embolism in a Multifactorial Hypercoagulable State: Case Report.

Paradoxical embolism is an uncommon phenomenon, accounting for only 2% of all cases of systemic arterial embolism. This condition suggests the presence of a patent foramen ovale, present in 20% - 25% of the adult population. The authors report the case of a 63-year-old male patient with a history of lung adenocarcinoma and hereditary thrombophilia admitted to hospital with acute onset of dyspnea, diplopia, confusion and decreased motor strength of the right limbs. Cranial computed tomography scan showed acute ischemic injury in the left posterior cerebral artery and computed tomography pulmonary angiography revealed bilateral pulmonary thromboembolism. A transesophageal echocardiogram confirmed the presence of patent foramen ovale. The patient was treated with anticoagulant therapy with progressive clinical improvement. Due to a high risk of recurrent thromboembolic episodes, the percutaneous closure of patent foramen ovale was performed and anticoagulant therapy was maintained indefinitely.

A embolização paradoxal é um fenómeno incomum, correspondendo apenas a 2% de todos os casos de embolia sistémica arterial. Esta condição sugere a presença de foramen ovale patente, presente em 20% - 25% da população adulta. Os autores relatam um caso de um homem de 63 anos, com os diagnósticos prévios de adenocarcinoma do pulmão e trombofilia hereditária, admitido no hospital com quadro agudo de dispneia, diplopia, confusão e diminuição da força dos membros à direita. A tomografia computorizada crânio-encefálica mostrou uma lesão isquémica cerebral na região da artéria cerebral posterior esquerda e a angiotomografia computorizada torácica revelou tromboembolismo pulmonar bilateral. O ecocardiograma transesofágico confirmou a presença de foramen ovale patente. O doente foi tratado com terapêutica anticoagulante com melhoria clínica progressiva. Devido ao elevado risco de recorrência de eventos tromboembólicos, o doente foi submetido a encerramento percutâneo do foramen ovale patente e a anticoagulação foi mantida por tempo indeterminado.

Detection and quantification of EGFR T790M mutation in liquid biopsies by droplet digital PCR.

BACKGROUND: Liquid biopsy allows the identification of targetable cancer mutations in a minimally invasive manner. In patients with advanced non-small cell lung cancer (NSCLC), droplet digital PCR (ddPCR) is increasingly used to genotype the epidermal growth factor receptor (EGFR) gene in circulating cell-free DNA (cfDNA). However, the sensitivity of this method is still under debate. The aim of this study was to implement and assess the performance of a ddPCR assay for detecting the EGFR T790M mutation in liquid biopsies. METHODS: A ddPCR assay was optimized to detect the EGFR T790M mutation in plasma samples from 77 patients with NSCLC in progression. RESULTS: Our ddPCR assay enabled the detection and quantification of the EGFR T790M mutation at cfDNA allele frequency as low as 0.5%. The mutation was detected in 40 plasma samples, corresponding to a positivity rate of 52%. The number of mutant molecules per mL of plasma ranged from 1 to 6,000. A re-biopsy was analyzed for 12 patients that had a negative plasma test and the mutation was detected in 2 cases. A second liquid biopsy was performed for 6 patients and the mutation was detected in 3 cases. CONCLUSIONS: This study highlights the value of ddPCR to detect and quantify the EGFR T790M mutation in liquid biopsies in a real-world clinical setting. Our results suggest that repeated ddPCR tests in cfDNA may obviate tissue re-biopsy in patients unable to provide a tumor tissue sample suitable for molecular analysis.

Definitive Treatment Of Primary Spontaneous Pneumothorax A 10 Year Experience.

OBJECTIVES: Primary spontaneous pneumothorax (PSP) is defined as a pneumothorax without obvious underlying lung disease. Definitive treatment should be offered to patients with recurrent or persistent PSP. The aim of this study was to compare the effectiveness of medical pleurodesis (MP) with video assisted thoracic surgery (VATS) on definitive treatment of PSP. METHODS: 10 years' retrospective study of PSP patients that underwent VATS or MP. Baseline characteristics, perioperative and follow-up data were compared. RESULTS: A total of 133 patients were included (MP=54; VATS=79). Baseline characteristics were similar between groups, with a male predominance (MP 83.6 vs VATS 85.5%) with a mean age of 24.78 and 25.81 years old, respectively. Post interventional length of hospital stay was similar (MP 4.94 vs VATS 4.47 days, p=0.20), but chest tube duration was longer in the VATS group (MP 2.94 vs VATS 3.56 days, p=0.03). The overall complications rate was low with no statistically significant difference between groups (MP 5/54 vs VATS 7/79, p=1.00). Regarding the follow-up, MP had a significant higher PSP recurrence rate (MP 11.1% vs VATS 1.3%, p=0.042), most occurring over the first two years. CONCLUSION: Despite both MP and VATS are safe methods with short hospital stay and few complications associated, the results of this study show that VATS had a significantly lower rate of recurrences. Overall, VATS should be offered as the first line treatment to patients with PSP.