Objective To investigate the relationship between white matter lesions (WML) within the cholinergic pathway and vascular cognitive impairment.Method Middle-aged and elderly stroke patients underwent brain MRI examination and Montreal Cognitive Assessment (MoCA).Cholinergic Pathways Hyperintensities Scale (CHIPS) scores and the overall WML burden by Schelten on fluidattenuated inversion recovery MRI images were determined and compared with MoCA scores.Spearman partial rank correlation coefficients and standardized regression coefficients were calculated.Results Thirty four patients were included ( mean age ( 62.2 ± 8.8 ) years, 45-82 years).MoCA scores negatively correlated with WML burdens by Schelten scores ( β = - 0.357, P = 0.042) and CHIPS scores ( β =-0.382,P=0.026).CHIPS scores were negatively associated with visuospatial and executive function (r = - 0.290, P = 0.048 ), naming function ( r = - 0.486, P = 0.002 ), attention ( r = - 0.311, P =0.037) and abstraction ( r = - 0.344, P = 0.023).Schelten scores were negatively associated with naming function (r = - 0.492, P = 0.002), attention ( r = - 0.364, P = 0.017) and abstraction ( r = - 0.390,P=0.011).Conclusion WML lesions within the cholinergic pathyway play a possible role in vascular cognitive impairment especially in visuospatial and executive function.

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 detect gene mutations in a pedigree with dominant dystrophic epidermolysis bullosa (DDEB) .Methods:A 20-year-old male proband presented with repeated blisters, ulceration, pigmentation, scars on the limbs, and deformation of the nails/toenails after birth. There were 5 patients in the 3-generation family, and they all presented with typical skin lesions. Peripheral blood samples were obtained from 14 members of the pedigree (including the 5 patients) and 100 unrelated healthy controls. Whole-exome sequencing was performed in the proband to identify relevant mutation sites, which were then confirmed in the family by Sanger sequencing.Results:Genetic testing indicated that the proband and the other 4 patients all carried a missense mutation (c.7885G>A) in exon 107 of the COL7A1 gene, resulting in the substitution of glycine by arginine at amino acid position 2629 (p.G2629R). The mutation was identified neither in the 9 healthy relatives nor in the 100 unrelated healthy controls. The mutation co-segregated with DDEB in the family, and was not included in databases such as Pubmed, HGMD or ClinVar, suggesting it was a novel missense mutation. The amino acid encoded by this mutation may alter the structure of type Ⅶ collagen, thereby affecting its function.Conclusion:A novel missense mutation was identified in exon 107 of the COL7A1 gene in the family with DDEB, expanding the spectrum of mutations in the COL7A1 gene.