OBJECTIVETo detect potential mutations of fibrillin-1 (FBN1) gene in a child with Marfan syndrome (MFS) and explore its molecular pathogenesis.

METHODSThe 66 exons of the FBN1 gene were analyzed by direct sequencing. SIFT and PolyPhen-2 were used to predict the structural and functional changes at the protein level.

RESULTSA novel heterozygous mutation c.3998 G>A (p.Cys1333Tyr) was found in exon 32 in the child. The same mutation was not found among his unaffected family members and 683 healthy controls. Multiple sequence alignment showed that this novel mutation was located in a highly conserved region of the FBN1 protein across various species and may induce structural change to a functional domain.

CONCLUSIONThe novel c.3998G>A (p.Cys1333Tyr) mutation of the FBN1 gene probably predisposed the MFS in the child. Above finding has enriched the spectrum of FBN1 mutations.

OBJECTIVETo assess the association of single nucleotide polymorphisms (SNP) rs547984, rs540782, rs693421 and rs2499601 of Zona Pellucida Glycoprotein 4 (ZP4) gene with primary open-angle glaucoma (POAG) among ethnic Han Chinese from Sichuan Province.

METHODSA dye terminator-based SNaPshot method was used to genotype 336 patients with POAG and 768 healthy controls.

RESULTSNo significant difference was detected in allelic frequencies of rs547984, rs540782, rs693421 and rs2499601 between the two groups (P>0.05). Haplotypic analysis showed a significant difference in G-G-A-G haplotype formed by the 4 SNPs between the POAG and the control groups (P<0.05).

CONCLUSIONZP4 gene SNPs rs547984, rs540782, rs693421, rs2499601 are not associated with POAG among ethnic Hans from Sichuan.

Objective: To investigate clinical outcomes of modified reattachment of superior peroneal retinaculum (SPR) for patients with recurrent peroneal tendon dislocation. Methods: A total of 24 cases with recurrent peroneal tendon dislocation from December 2012 to June 2017 were treated with modified reattachment of SPR. There were 20 males and 4 females. The average age was 24.9±9.3 years (14-48 years). The average BMI was 23.18±3.50 kg/m² (15.8-32.2 kg/m²). A 4-5 cm incision was made along the lateral margin of the fibula and curved distally around the fibular tip in line with the peroneal excursion. The superior peroneal retinaculum, peroneus longus and peroneus brevis were exposed. The periosteum and SPR were stripped from the fibula. The false pouch was formed. Two suture anchors were inserted into the postero-lateral ridge of the lateral malleolus without damaging the cartilaginous ridge, after which the SPR was reattached to the lateral malleolus with the anchored suture. The inner layer of the false pouch was incised, while the outer layer (periosteum) was sutured with the SPR in a pants-over-vest style. The following items, including American Orthopaedic Foot and Ankle Society (AOFAS) score, visual analogue scale (VAS), rate of return to previous sports level, time to return to sports activity, complication, and patients satisfaction were evaluated preoperatively and at the final follow-up. Results: The average operation duration was 36.1±8.8 min (20-51 min). The blood loss was 1-10 ml, average 4.1±2.7 ml. The follow-up was carried out in 22 cases for mean 33.9±15.7 months (13-61 months). AOFAS score was improved from 77.8±7.8 points to 95.5±4.3 points significantly (t=-11.89, P<0.001). VAS score was reduced from 4.2±2.4 to 0.3±0.8 significantly (t=7.69, P<0.001). Mean duration return to sports activity was 5.0±1.9 months (3-10 months). A total of 20 patients (91%) returned to their previous sports level. Only one patient (5%) was found with limitation of range of motion, while two patients (9%) reported pain at the scar site without recurrence. The satisfaction rate was 91%. Conclusion Clinical outcomes of modified reattachment of SPR for patients with recurrent peroneal tendon dislocation was safe and effective.

Objective To evaluate the value and short-term efficacy of Miccoli for cervical lymph node dissection in patients with thyroid papillary carcinoma.Methods From Mar.2017 to Jan.2018,15 patients with thyroid papillary carcinoma received cervical lymph node dissection in Department of Thyroid and Breast Surgery of Nanjing Chinese Traditional Medicine Hospital,and they were divided into open surgery group (8 cases) and Miccoli surgery group (7 cases).The operation time,incision length,intraoperative blood loss,total number of dissection lymph nodes,incidence of postoperative complications and length of hospital stay between the two groups were analyzed.These groups were followed up for 6 months after surgery,in terms of neck comfort,incidence of enlarged lymph nodes in the cervical region and blood thyroglobulin level.Results There was no obvious difference between the two groups in intraoperative blood loss(P=0.651),total number of dissection lymph nodes(P=0.887),the incidence of postoperative complications(P=0.52),incidence of intumescent lymph node(P=1.000) and blood thyroglobulin level(P=0.826) after 6 months.The operation time of Miccoli group was longer than that of the open group(P=0.001),but the incision length(P=0.001),length of hospital stay(P=0.001)and postoperative neck comfort(P=0.001)were superior to those of the open surgery group.Conclusion Miccoli operation can be used to perform cervical lymph node dissection for PTC patients,which can achieve the curative effect of open surgery,without increasing the risk of postoperative complications,and the postoperative neck comfort was better.

OBJECTIVE: To detect mutations of fibrillin-1 (FBN1) gene in two pedigrees affected with Marfan syndrome (MFS). WETHODS: Peripheral blood samples were collected from MFS patients and their healthy family members for extracting genomic DNA. All of the 65 exons of the FBN1 gene were analyzed by next-generation sequencing. PolyPhen-2 and SIFT was used to predict structural and functional changes in FBN1 protein. RESULTS: Patients from both pedigrees presented ocular and skeletal manifestations suggestive of MFS. Two novel heterozygous mutations of the FBN1 gene, including c.1879C>T (p.R627C) in exon 16 and c.2584T>C (p.C862R) in exon 22, were identified. The same mutations were not found among unaffected members. By bioinformatic analysis, the mutations may affect the structure and function of the FBN1 protein. CONCLUSION The c.1879C>T and c.2584T>C mutations of the FBN1 gene probably account for the disease in the two pedigrees, respectively. Identification of the c.2584T>C has enriched the spectrum of FBN1 gene mutations.
DNA Mutational Analysis ; Exons ; Fibrillin-1 ; genetics ; Fibrillins ; Humans ; Marfan Syndrome ; genetics ; Mutation ; Pedigree