ABSTRACT
INTRODUCTION: Mitochondrial fatty acid oxidation disorders (FAODs) are a heterogeneous group of hereditary autosomal recessive diseases included in newborn screening (NBS) program in Italy. The aim of this study was to analyse FAODs cases, identified either clinically or by NBS,for clinical and genetic characterization and to evaluate a five years' experience of NBS, in the attempt to figure out the complexity of genotype-phenotype correlation and to confirm the clinical impact of NBS in our centre experience. MATERIALS AND METHODS: We analysed FAODs patients diagnosed either by NBS or clinically, followed since February 2014 to April 2019 at the Regional Screening Centre and Inherited Metabolic Diseases Unit of Verona. Diagnosis was confirmed by plasma acylcarnitines, urinary organic acids, enzymatic and genetic testing. For not clear genotypes due to the presence of variants of uncertain significance, in silico predictive tools have been used as well as enzymatic activity assays. Patients underwent clinical, nutritional and biochemical follow up. RESULTS: We diagnosed 30 patients with FAODs. 20 by NBS: 3 CUD, 6 SCADD, 5 MCADD, 4 VLCADD, 2 MADD. Overall incidence of FAODs diagnosed by NBS was 1:4316 newborns. No one reported complications during the follow up period. 10 patients were diagnosed clinically: 2 CUD, 2 CPT2D, 1 VLCADD, 5 MADD. Mean age at diagnosis was 29.3 years. Within this group, complications or symptoms were reported at diagnosis, but not during follow-up. 12 mutations not previously reported in literature were found, all predicted as pathogenic or likely pathogenic. DISCUSSION AND CONCLUSIONS: Our study highlighted the great phenotypic variability and molecular heterogeneity of FAODs and confirmed the importance of a tailored follow up and treatment. Despite the short duration of follow up, early identification by NBS prevented diseases related complications and resulted in normal growth and psycho-motor development as well.
ABSTRACT
OBJECTIVES: The role of the sternal closure techniques on the incidence of sternal dehiscence and wound infection are well defined among a high number of other variables involved. In the various series, the incidence of wound complication in cardiac surgery varies from 2 to 8%. The aim of our study is to evaluate the role of thermal-dependent shape-memory Nitillium clips in reducing the incidence of sternal dehiscence following sternotomy. METHODS: We perspectively randomized 1000 consecutive patients requiring cardiac surgery to evaluate the incidence of sternal wound complications (SWC), sternal dehiscence and/or other related complications. We compared Group I (500 patients), in which sternal closure was achieved with standard sternal wires, with Group II (500 patients), in which sternal approximation was carried out by means of thermoreactive Nitillium clips. The two randomized groups were comparable in terms of age, gender, Euroscore and risk factors for sternal/wound complications. RESULTS: In our study the overall incidence of SWC was 4.7%. The incidence of SWC was considerably higher in Group I (6.8%) when compared to Group II (2.6%) (P=0.003). Mechanical sternal dehiscence without infection occurred in 14 patients in Group I and in one patient in Group II (P=0.002). Despite sternotomy wound infection occurred similarly in both groups (15 patients in Group I vs. 12 patients in Group II), sternal revision was performed only in patients of Group I (Group I: 9/15 vs. Group II: 0/12; P=0.001). CONCLUSION: Thermal shape-memory Nitillium clips provided superior results in sternal osteosynthesis following midline sternotomy, due to a considerable reduction of sternal dehiscence and related complications. The clinical benefit of Nitillium clips was demonstrated even in patients with several risk factors for SWC.
