Polydactyly is one of the most common congenital limb abnormalities. Our objective was to identify the genetic causes of non-syndromic polydactyly in 78 Chinese children.Genomic DNA was isolated from 78 independent nonsyndromic polydactyly patients, of whom 71 had preaxial polydactyly (PPD), six had postaxial polydactyly (PAP), and one showed combined PPD1 and PAP-A/B. The coding areas and exon/intron boundaries of the GLI3 and SHH genes and the genomic region of SHH ZRS were amplified by polymerase chain reaction and sequenced.The patient with combined PPD1 and PAP-A/B (subject DUO36) exhibited a heterozygous nonsense mutation in chr7: 42004164G>A (ENST00000395925, c.4507C>T, p.Gln1503Stop ) of the GLI3 gene that has not been previously recorded. We did not detect any mutations in GLI3, SHH, or SHH ZRS in the other 77 nonsyndromic polydactyly patients.The novel mutation in GLI3 c.4507C>T is likely one of the causes of the PAP and PPD1 of subject DUO36. This important finding should facilitate the optimization of genetic testing for nonsyndromic polydactyly.
Abstract Background The efficacy of unilateral dual-channel spinal endoscopy (UBE) and microscopic endoscopic decompression (MED) in the treatment of lumbar spinal stenosis (LSS) was compared by Meta-analysis. Method PubMed, Web of Science, China National Knowledge Infrastructure (CNKI), and Wanfang Database were searched by computer for all studies on the treatment of LSS with UBE and MED from the establishment of the database to January 2021. Authors, year of publication, study design, subject characteristics, sample size, surgical protocol, age, sex ratio, duration of surgery, length of hospital stay, complications, visual analogue scale (VAS), and Oswestry Disability Index (ODI) were obtained. The operation time, hospital stay, complication rate, waist and lower extremity VAS score and ODI before operation, early postoperative period and last follow-up were analyzed by Revman 5.3 software. Result Finally, 7 articles were included, including 6 articles in English and 1 article in Chinese; 2 articles were randomized controlled studies, and 5 articles were case-control studies. There were 251 patients in the UBE group and 224 patients in the microscopy group. Compared with the MED group, the UBE group had a shorter hospital stay (MD=-2.28, 95% CI: -3.42~-1.14, P < 0.001), and a lower VAS score for early postoperative low back pain (MD=-0.80, 95%CI) : -1.44~-0.16, P = 0.01), the difference was statistically significant. There were no significant differences in operation time, complication rate, waist VAS score before operation and at last follow-up, lower extremity VAS score, ODI, and dural expansion area before operation, early after operation and at last follow-up between the two groups ( P > 0.05). Conclusion Compared with MED, UBE has better early low back pain relief and hospital stay after LSS, but there is no significant difference in long-term efficacy and safety.
Biportal endoscopic decompression is a minimally invasive surgical technique for lumbar spinal stenosis (LSS). This meta-analysis aimed to evaluate the efficacy and safety of biportal endoscopic decompression through both a single-arm analysis and a comparative analysis.
Tuberculosis of the long tubular bones in children's extremities is infrequent, particularly in the ulna. Early diagnosis poses significant challenges. This report presents a case involving a 2-year-old child with tuberculosis of the ulnar bone, accompanied by a comprehensive review of pertinent literature. The purpose of this study is to share diagnostic and therapeutic experiences and provide potentially valuable insights.
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