Background. Data comparing different doses of non-vitamin K antagonist oral anticoagulants (NOACs) regarding resolution of left atrial appendage thrombus (LAAT) in patients with nonvalvular atrial fibrillation (AF) are scarce. This study aimed to investigate the safety and efficacy of standard-dose versus low-dose NOACs in patients with nonvalvular AF and LAAT. Methods. Patients with nonvalvular AF who underwent transesophageal echocardiography (TEE) before interventional procedures for the detection of LAAT and treated with NOACs from October 2014 to September 2020 in Ningbo First Hospital were retrospectively screened. The study population was divided into two groups according to the doses of NOACs: standard-dose group (dabigatran 150 mg, twice daily; rivaroxaban 20 mg, once daily) and low-dose group (aged ≥75 years, body weight <50 kg, or creatinine clearance <50 mL/min; dabigatran 110 mg, twice daily; rivaroxaban 15 mg, once daily). Repeated TEE was performed 1, 2, and 3 months later. The rate of LAAT completely resolved and incidence of thromboembolic and major bleeding events were compared between the two groups. Results. A total of 24 patients were included, 14 patients in the standard-dose group and 10 in the low-dose group. After 3 months, LAAT was completely resolved in 12 out of 14 (85.7%) and 8 out of 10 (80%) patients treated with standard- and low-dose NOACs, respectively. The rate of LAAT completely resolved was comparable between groups. No thromboembolic or major bleeding events occurred during the follow-up. Conclusion. Low-dose NOACs are a safe and effective option for the treatment of LAAT in some special subset patients. However, the results warrant validation in a prospective study.
Background
Medulloblastoma is an aggressive brain tumor mostly found in children, few studies on pathogenic germline mutations predisposing this disease was reported.
Case presentation
We present an 11-year-old male with medulloblastoma, who harbors a de novo PHOX2B germline mutation as detected by whole exome sequencing (WES). Family history was negative. Sanger sequencing confirmed this mutation in peripheral blood, hair bulbs, urine and saliva. Identification of novel germline mutations is beneficial for childhood cancer screening.
Conclusions
This case revealed a de novo PHOX2B germline mutation as a potential cause of medulloblastoma in a child and suggests familial germline variant screening is useful when an affected family is considering having a second child.
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