Clinical and gene analysis of primary carnitine deficiency found by neonatal screening / 临床儿科杂志

Objective To explore the clinical feature and gene types in patients with primary carnitine deficiency. MethodsClinical data of 6 patients with primary carnitine deficiency and 2 patients with maternal carnitine deficiency found in the screening by tandem mass spectrometry technology during December 2013 to December 2016 were retrospectively analyzed. Results The free carnitine levels of 8 patients in initial and recall screening were 5.85±1.65 μmol/L and 5.22±1.02 μmol/L. Two pathogenic alleles were detected in each patient with primary carnitine deficiency by genetic and metabolic disease panel based on Ion Torrent semiconductor sequencing. After treatment with oral L-carnitine, the free carnitine levels of 6 patients with primary carnitine deficiency were 20.24±3.88 μmol/L. The carnitine levels returned to normal after mixed feeding for one week in 2 patients with maternal carnitine deficiency, and no genetic diagnosis was carried out. Conclusion Primary carnitine deficiency can be effectively detected using tandem mass spectrometry technology and next generation sequencing panel and the prognosis is good with early standard treatment.

Hydroxyapatite-bone morphogenetic protein ossicular prosthesis versus allogeneic cartilage ossicular prosthesis for ossicular chain damage / 中国组织工程研究

BACKGROUND:There is a great dispute on the choice of repair materials for ossicular chain damage. OBJECTIVE:To explore the effects of new hydroxyapatite-bone morphogenetic protein ossicular prosthesis versus al ogeneic cartilage ossicular prosthesis in patients with ossicular chain damage. METHODS:Sixty patients with chronic otitis media were equal y assigned into a control group and a test group. Two groups of patients underwent tympanoplasty and ossicular chain reconstruction with al ogeneic cartilage ossicular prosthesis or hydroxyapatite-bone morphogenetic protein ossicular prosthesis, respectively. Twelve months after surgery, fol ow-up results were compared between two groups. RESULTS AND CONCLUSION:Air conduction value and air-bone gap value were both improved significantly in the two groups after surgery (P Subject headings:Tympanoplasty;Otitis Media;Bone Morphogenetic Proteins;Tissue Engineering