A case of infection-induced thrombotic thrombocytopenic purpura.

BACKGROUND: Thrombotic thrombocytopenic purpura (TTP) are a group of microvascular thrombohemorrhagic syndromes with low incidence and high mortality, which are characterized by thrombocytopenia, microangiopathic hemolytic anemia, fever, neuropsychiatric disorders, and renal involvement. In addition, TTP has a high rate of misdiagnosis and underdiagnosis due to the lack of specific clinical manifestations. CASE REPORT: A male patient aged 47 years was admitted to our hospital with complaints of dizziness and nausea for 2 days and soy-colored urine for 1 day. The patient had caught a cold and suffered from fever, dizziness, and nausea 2 days before admission. These symptoms were relieved by self-administration of berberine 1 day before admission. Later, the patient found that the urine was scanty and soy-colored. Physical examination on admission showed that the patient developed apathy, with occasional babbling, yellowing skin and sclera, and scattered bleeding spots on the anterior chest area. Based on auxiliary tests combined with clinical manifestations, the patient was diagnosed with TTP and administered plasma exchange, hemofiltration, hormone, and anti-platelet therapies. The patient recovered and was discharged after 3 weeks. The patient regularly took aspirin and was followed up one year later with no recurrence. CONCLUSION: TTP is an acute severe disease with complex etiology, abrupt onset, and dangerous conditions. In this patient with TTP, an important cause of the disease may have been an acute gastrointestinal infection. The plasma examination in another hospital revealed positive results for ADAMTS13 inhibitors, providing strong evidence for the diagnosis of this case. Multiple plasma exchanges and glucocorticoids yielded favorable treatment results and were critical measures of successful treatment of TTP.

Detection of Rare Mutations in EGFR-ARMS-PCR-Negative Lung Adenocarcinoma by Sanger Sequencing.

PURPOSE: This study aimed to identify potential epidermal growth factor receptor (EGFR) gene mutations in non-small cell lung cancer that went undetected by amplification refractory mutation system-Scorpion real-time PCR (ARMS-PCR). MATERIALS AND METHODS: A total of 200 specimens were obtained from the First Affiliated Hospital of Guangzhou Medical University from August 2014 to August 2015. In total, 100 ARMS-negative and 100 ARMS-positive specimens were evaluated for EGFR gene mutations by Sanger sequencing. The methodology and sensitivity of each method and the outcomes of EGFR-tyrosine kinase inhibitor (TKI) therapy were analyzed. RESULTS: Among the 100 ARMS-PCR-positive samples, 90 were positive by Sanger sequencing, while 10 cases were considered negative, because the mutation abundance was less than 10%. Among the 100 negative cases, three were positive for a rare EGFR mutation by Sanger sequencing. In the curative effect analysis of EGFR-TKIs, the progression-free survival (PFS) analysis based on ARMS and Sanger sequencing results showed no difference. However, the PFS of patients with a high abundance of EGFR mutation was 12.4 months [95% confidence interval (CI), 11.6-12.4 months], which was significantly higher than that of patients with a low abundance of mutations detected by Sanger sequencing (95% CI, 10.7-11.3 months) (p<0.001). CONCLUSION: The ARMS method demonstrated higher sensitivity than Sanger sequencing, but was prone to missing mutations due to primer design. Sanger sequencing was able to detect rare EGFR mutations and deemed applicable for confirming EGFR status. A clinical trial evaluating the efficacy of EGFR-TKIs in patients with rare EGFR mutations is needed.