We hereby report a case of a full-term male neonate diagnosed with PURA syndrome with the symptoms of hypotonia, respiratory distress, feeding difficulty and lethargy. A heterozygous mutation of c.98dupG, p.(Gly34fs) in the PURA gene was detected using next-generation sequencing panel and the diagnosis of PURA syndrome was confirmed. This neonate was followed up for 6 months, and showed delayed mental development. PURA syndrome should be considered in neonates presenting with hypotonia, epilepsy, and delayed nervous system development, after excluding brain damage of premature, hypoxic-ischemic encephalopathy, and congenital metabolic defects. Genetic testing is needed to clarify the diagnosis.

ObjectiveTo investigate and evaluate the result and the possibility of the clinical application of autologous chondrocyte implant (ACI).MethodsFrom November 2007 to June 2009,6 cases of knee articular cartilage defect were treated with ACI,including 2 males and 4 females with an average age of 39.5 years (range,19-55).All the defects were located on the condyles of femur with a mean size of 7.3 cm2 (range,3.8-11.6).ACI comprises a two-stage procedure:chondrocytes are first harvested from the non-load bearing area of the joint,expand in vitro to acquire enough cells,and then the chondrocytes are implanted.The defect of cartilage were covered with bone membrane and fixed with sutures and fibrin albumen glue.Lysholm score system,International Knee Documentation Committee (IKDC) grading system,and MRI were used to evaluate the effect of ACI,6 and 12 months post-operatively.ResultsAll the patients were followed up.The clinical outcomes of the 6 and 12 months follow-ups demonstrated increased of clinical scores.The MRI follow-up showed good filling of the defect with tissue having the imaging appearance of cartilage in all patients.Only one patient suffered adhesion,because she refused to finish rehabilitation exercises as our treatment advises.ConclusionAs the clinical effect of ACI for knee cartilage defect is satisfied,the ACI may be a good choice for treating knee cartilage defect in future.It is very important to control the indications strictly and guarantee to finish the post-operative rehabilitation exercises.