Medicine
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Case Reports
A novel EGFR exon 21 indel mutation in lung adenocarcinoma and response to dacomitinib: A case report.
Uncommon epidermal growth factor receptor (EGFR) mutations are increasingly being identified in non-small cell lung cancer. Insertion and deletion mutations have been detected in exons 18, 19, and 20, but not in exon 21. In patients with uncommon mutations, the second-generation EGFR tyrosine kinase inhibitor afatinib has shown good efficacy, whereas that of dacomitinib, another second-generation EGFR-tyrosine kinase inhibitor, remains unknown. Here, we reported a patient with a novel EGFR21 exon insertion-deletion (indel) mutation and demonstrated the efficacy of dacomitinib. ⋯ We reported a novel EGFR exon 21 indel mutation in a lung adenocarcinoma patient. Dacomitinib showed efficacy in the treatment of a patient with this mutation, suggesting that its efficacy in patients with uncommon mutations should be explored further. The next-generation sequencing is recommended as a guiding tool for the treatment of advanced non-small cell lung cancer.
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Leigh syndrome (LS) is a rare, progressive, and fatal neurodegenerative disease that occurs mainly in infants and children. Neonatal LS has not yet been fully described. ⋯ Lip cyanosis is an important initial symptom in LS. Mild upper respiratory tract infections can induce LS and aggravate the disease. No abnormal changes in the brain MRI were observed in the early LS stages in this patient. Multiple MRIs and blood lactic acid tests during disease progression and genetic testing are important for prompt and accurate diagnosis of LS.
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Sleep apnea is negatively associated with N3 sleep in children. However, the association between tinnitus and sleep N3 stage was still inconclusive. We aimed to clarify the relationship between sleep apnea, chronic tinnitus, and sleep N3 stage in adults. ⋯ Univariate linear regression analysis showed that sleep apnea indices, chronic tinnitus, age, sex, hypertension, diabetes mellitus, dyslipidemia, subjective insomnia, sleep efficiency, and rapid eye movement sleep were significantly associated with sleep N3 stage. However, multivariate linear regression showed that apnea-hyponea index, but not chronic tinnitus, has a significant negative association with the percentage of sleep N3 stage. Sleep apnea plays a more important role on sleep N3 stage than chronic tinnitus in adults.
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Chronic active Epstein-Barr virus (EBV) infection (CAEBV) is a rare but life-threatening EBV-positive lymphoproliferative disorder. Currently, treatment options for CAEBV are limited. Allogeneic hematopoietic stem cell transplantation (allo-HSCT) is the only way to cure CAEBV. Here, we report a rare case of CAEBV manifesting as massive pericardial effusion that was successfully treated with programmed cell death protein-1 (PD-1) blockade immunotherapy. ⋯ CAEBV is a rare but life-threatening EBV-positive lymphoproliferative disease. We present a rare case of massive pericardial effusion caused by systemic CAEBV, which was successfully treated with sintilimab. This case highlights the promising curative effect of PD-1 blockade immunotherapy in systemic CAEBV, especially for patients not suitable for allo-HSCT.
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No study has evaluated the effect of therapeutic granulocyte colony-stimulating factor (G-CSF) in preventing recurrence of febrile neutropenia (FN) and survival outcomes in gynecologic cancer patients. Objective of this study is to optimize and to identify the use of G-CSF and identify the critical factors for preventing the recurrence of FN in women undergoing chemotherapy for the treatment of gynecologic cancer. The medical records of consecutive patients who underwent chemotherapy for the treatment of gynecologic cancer and experienced FN at least once were retrospectively reviewed. ⋯ Multivariate Cox regression analysis showed that a maximum daily dose of G-CSF ≤600 μg was the only independent risk factor for short recurrence-free survival of FN (HR, 4.75; 95% CI, 1.15-19.56; P = .031). Dose-dense administration of G-CSF >600 μg/day could prevent recurrence of FN in women who undergo chemotherapy for the treatment of gynecologic cancer and FN. Old age and FN at early lines of chemotherapy seem to be associated with FN recurrence.