Mechanisms of symptomatic spinal cord ischemia after TEVAR: insights from the European Registry of Endovascular Aortic Repair Complications (EuREC)

To test the hypothesis that simultaneous closure of at least 2 independent vascular territories supplying the spinal cord and/or prolonged hypotension may be associated with symptomatic spinal cord ischemia (SCI) after thoracic endovascular aortic repair (TEVAR).

Follicle flushing in monofollicular in vitro fertilization almost doubles the number of transferable embryos

Follicle flushing has been proved to be ineffective in polyfollicular in vitro fertilization. To analyze the effect of flushing in monofollicular in vitro fertilization we aspirated and then flushed the follicles in 164 cycles. Total oocyte yield/aspiration was 44.5% in the aspirate, 20.7% in the 1(st) flush, 10.4% in the 2(nd) flush and 4.3% in the 3(rd) flush. By flushing, the total oocyte yield increased (p < 0.01) by 80.9%, from 44.5 to 80.5%. The total transfer rate increased (p < 0.01) by 91.0%, from 20.1 to 38.4%. The results indicate that the oocyte yield and the number of transferable embryos can be increased significantly by flushing.

DNAI1 mutations explain only 2% of primary ciliary dykinesia

BACKGROUND: Primary ciliary dyskinesia (PCD) is a rare recessive hereditary disorder characterized by dysmotility to immotility of ciliated and flagellated structures. Its main symptoms are respiratory, caused by defective ciliary beating in the epithelium of the upper airways (nose, bronchi and paranasal sinuses). Impairing the drainage of inhaled microorganisms and particles leads to recurrent infections and pulmonary complications. To date, 5 genes encoding 3 dynein protein arm subunits (DNAI1, DNAH5 and DNAH11), the kinase TXNDC3 and the X-linked RPGR have been found to be mutated in PCD. OBJECTIVES: We proposed to determine the impact of the DNAI1 gene on a cohort of unrelated PCD patients (n = 104) recruited without any phenotypic preselection. METHODS: We used denaturing high-performance liquid chromatography and sequencing to screen for mutations in the coding and splicing site sequences of the gene DNAI1. RESULTS: Three mutations were identified: a novel missense variant (p.Glu174Lys) was found in 1 patient and 2 previously reported variants were identified (p.Trp568Ser in 1 patient and IVS1+2_3insT in 3 patients). Overall, mutations on both alleles of gene DNAI1 were identified in only 2% of our clinically heterogeneous cohort of patients. CONCLUSION: We conclude that DNAI1 gene mutation is not a common cause of PCD, and that major or several additional disease gene(s) still remain to be identified before a sensitive molecular diagnostic test can be developed for PCD.