The Amplatzer is an efficient prosthesis that can be safely applied in children with secundum ASD. However, a study including a large number of patients and a longer follow-up period are required before this technique can be widely used.
Transcatheter closure using the ADO is an effective and safe therapy for the majority of patients with patency of the arterial duct. Further studies are required to establish long-term results in a larger patient population.
Objective-To report the initial and intermediate term results of stent implantation in children with coarctation of the aorta. Patients and design-17 patients with coarctation of the aorta underwent stent implantation (median age 11 years, range 0.4-15 years); six were treated for isolated coarctation, nine for recurrent coarctation (five after surgical repair and four after balloon dilatation), and two for complex long segment coarctation. Interventions-The procedure was guided by a second catheter placed transseptally in the left ventricle or the aorta proximal to the coarctation site, for angiographic and haemodynamic monitoring during the procedure. Twenty two stents were implanted in 17 patients. One of the patients with long segment coarctation received four stents and the other three. Palmaz 4014 stents were placed in 11 patients, Palmaz 308 in five, and Palmaz 154 in one. Results-Immediately after stent implantation the peak systolic gradient (mean (SD)) fell from 50.0 (24.5) to 2.1 (2.4) mm Hg (p < 0.05). The diameter of the stenotic lesion increased from 5.1 (1.5) mm to 13.9 (2.4) mm (p < 0.05). There were no deaths or procedure related complications. At a median follow up of 33 months, no cases of recoarctation were identified, either clinically (0/17; 0%, 95% confidence interval (CI) 0% to 19%) or angiographically (0/13; 0%, 95% CI 0% to 25%). Conclusions-Stent implantation for the treatment of coarctation of the aorta appears to have very low morbidity and mortality, and reasonable intermediate term results. Long term freedom from recoarctation using this method remains to be determined in comparison with simple balloon dilatation. (Heart 2000;84:65-70)
Background
Hereditary cancer predisposition syndromes are responsible for approximately 5–10% of all diagnosed cancer cases. In the past, single-gene analysis of specific high risk genes was used for the determination of the genetic cause of cancer heritability in certain families. The application of Next Generation Sequencing (NGS) technology has facilitated multigene panel analysis and is widely used in clinical practice, for the identification of individuals with cancer predisposing gene variants. The purpose of this study was to investigate the extent and nature of variants in genes implicated in hereditary cancer predisposition in individuals referred for testing in our laboratory.
Methods
In total, 1197 individuals from Greece, Romania and Turkey were referred to our laboratory for genetic testing in the past 4 years. The majority of referrals included individuals with personal of family history of breast and/or ovarian cancer. The analysis of genes involved in hereditary cancer predisposition was performed using a NGS approach. Genomic DNA was enriched for targeted regions of 36 genes and sequencing was carried out using the Illumina NGS technology. The presence of large genomic rearrangements (LGRs) was investigated by computational analysis and Multiplex Ligation-dependent Probe Amplification (MLPA).
Results
A pathogenic variant was identified in 264 of 1197 individuals (22.1%) analyzed while a variant of uncertain significance (VUS) was identified in 34.8% of cases. Clinically significant variants were identified in 29 of the 36 genes analyzed. Concerning the mutation distribution among individuals with positive findings, 43.6% were located in the
BRCA1/2
genes whereas 21.6, 19.9, and 15.0% in other high, moderate and low risk genes respectively. Notably, 25 of the 264 positive individuals (9.5%) carried clinically significant variants in two different genes and 6.1% had a LGR.
Conclusions
In our cohort, analysis of all the genes in the panel allowed the identification of 4.3 and 8.1% additional pathogenic variants in other high or moderate/low risk genes, respectively, enabling personalized management decisions for these individuals and supporting the clinical significance of multigene panel analysis in hereditary cancer predisposition.
Electronic supplementary material
The online version of this article (10.1186/s12885-019-5756-4) contains supplementary material, which is available to authorized users.
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