Objective:To analyze the mutation spectrum and regional distribution of susceptibility pathogenic genes in Chinese chronic pancreatitis (CP) patients.Methods:A retrospective analysis was conducted on 1 758 sporadic CP patients who underwent gene sequencing for pathogenic mutations of four major susceptibility genes ( SPINK1, PRSS1, CTRC, and CFTR) at the First Affiliated Hospital of Naval Medical University from December 2010 to November 2022. Pathogenic mutations of four major susceptibility genes were detected by using the next-generation sequencing, and both known and novel pathogenic mutations were validated by Sanger sequencing. The ethnic and regional distributions of pathogenic mutations across different ethnic groups were compared. The ArcMap 10.7 software was used to provide the distribution map of common CP pathogenic mutations in China, and regional differences of these mutations were assessed. According to seven major geographical regions in China, we also evaluated the enrichment differences of CP pathogenic mutations in North China region, Northeast China region, East China region, Central China region, South China region, Southwest China region, and Northwest China region. Results:Among 1 758 CP patients, 50.23% (883/1 758) carried pathogenic mutations, and the SPINK1 pathogenic mutations were most predominated (39.31%). Among them, c.194+2T>C mutations accounted for 94.21% of all SPINK1 mutations. 32.59% (573/1 758) of patients carried single heterozygous mutation of one susceptibility gene, and 4.61% carried homozygous mutation of SPINK1 c.194+2T>C. There was no statistically significant difference on the overall pathogenic mutation carrying rate between Han and ethnic minority patients, whereas the mutation carrying rate of SPINK1 c.194+2T>C was significantly higher among Han patients than among ethnic minorities (37.48% vs 20.00%, P<0.05). Among 31 provinces and cities, the mutation carrying rate of CP patients in Tianjin, Guangdong, Yunnan, Hubei and Anhui were all higher than 60.00%. The SPINK1 mutations accounted for the highest proportion of pathogenic mutations across all provinces (33.33% to 61.54%), and SPINK1 c.194+2T>C was the most prevalent mutation. The mutation carrying rate of SPINK1 c.194+2T>C was higher than 40.00% in Jilin, Liaoning, Tianjin, Anhui, Jiangxi, Hubei, Henan, and Guangdong. Distribution analysis of seven geographic regions showed that the overall carrying rate of pathogenic mutations in North China region was significantly lower than that in Central China region (represented by Henan, Hubei, and Hunan; 38.38% vs 58.15%), and the differences were statistically significant ( P<0.05). Additionally, although the carrying rate of SPINK1 c.194+2T>C was highest in Central (41.85%) and Northeast China region (38.78%), no significant differences were found among different regions. Conclusions:Genetic factors was the main etiology of CP in China, with SPINK1 c.194+2T>C mutations being most prevalent. The carrying rates of common susceptibility genes of CP were highest in Central China region as well as SPINK1 c.194+2T>C mutation.

Objective:To analyze the mutation spectrum and regional distribution of susceptibility pathogenic genes in Chinese chronic pancreatitis (CP) patients.Methods:A retrospective analysis was conducted on 1 758 sporadic CP patients who underwent gene sequencing for pathogenic mutations of four major susceptibility genes ( SPINK1, PRSS1, CTRC, and CFTR) at the First Affiliated Hospital of Naval Medical University from December 2010 to November 2022. Pathogenic mutations of four major susceptibility genes were detected by using the next-generation sequencing, and both known and novel pathogenic mutations were validated by Sanger sequencing. The ethnic and regional distributions of pathogenic mutations across different ethnic groups were compared. The ArcMap 10.7 software was used to provide the distribution map of common CP pathogenic mutations in China, and regional differences of these mutations were assessed. According to seven major geographical regions in China, we also evaluated the enrichment differences of CP pathogenic mutations in North China region, Northeast China region, East China region, Central China region, South China region, Southwest China region, and Northwest China region. Results:Among 1 758 CP patients, 50.23% (883/1 758) carried pathogenic mutations, and the SPINK1 pathogenic mutations were most predominated (39.31%). Among them, c.194+2T>C mutations accounted for 94.21% of all SPINK1 mutations. 32.59% (573/1 758) of patients carried single heterozygous mutation of one susceptibility gene, and 4.61% carried homozygous mutation of SPINK1 c.194+2T>C. There was no statistically significant difference on the overall pathogenic mutation carrying rate between Han and ethnic minority patients, whereas the mutation carrying rate of SPINK1 c.194+2T>C was significantly higher among Han patients than among ethnic minorities (37.48% vs 20.00%, P<0.05). Among 31 provinces and cities, the mutation carrying rate of CP patients in Tianjin, Guangdong, Yunnan, Hubei and Anhui were all higher than 60.00%. The SPINK1 mutations accounted for the highest proportion of pathogenic mutations across all provinces (33.33% to 61.54%), and SPINK1 c.194+2T>C was the most prevalent mutation. The mutation carrying rate of SPINK1 c.194+2T>C was higher than 40.00% in Jilin, Liaoning, Tianjin, Anhui, Jiangxi, Hubei, Henan, and Guangdong. Distribution analysis of seven geographic regions showed that the overall carrying rate of pathogenic mutations in North China region was significantly lower than that in Central China region (represented by Henan, Hubei, and Hunan; 38.38% vs 58.15%), and the differences were statistically significant ( P<0.05). Additionally, although the carrying rate of SPINK1 c.194+2T>C was highest in Central (41.85%) and Northeast China region (38.78%), no significant differences were found among different regions. Conclusions:Genetic factors was the main etiology of CP in China, with SPINK1 c.194+2T>C mutations being most prevalent. The carrying rates of common susceptibility genes of CP were highest in Central China region as well as SPINK1 c.194+2T>C mutation.

Objective:To investigate the curative effect of transfer of free anteriolateral thigh flap (ALTF) with partial iliotibial tract on reconstruction of composite tissue defects in dorsal wrist/hand.Methods:Ten patients who were admitted in the Department of Hand Surgery of Yongkang Orthopaedic Hospital from March 2018 to August 2022 were entered in the study due to extensive composite tissue defects in dorsal wrists and hands. The patients were 24-48 (37 in average) years old. All patients had tendon defects in 3 or more digits with 35 digits in total. The length of the tendon defects were 5.0-11.0 cm in various digits. The soft tissue defects ranged from 6.0 cm×8.0 cm to 11.0 cm×21.0 cm in size. Six patients had defects accompanied with metacarpal and phalangeal bone fracture and joint capsule. In emergency surgery, all patients received thorough debridement and VSD coverage after internal fixation for combined fractures. At 3-5 days after the primary surgery, free ALTF transfer with partial iliotibial tract was employed to reconstruct the defects on dorsal wrists and hands and the digit extension function. The size of flap was 6.0 cm×9.0 cm-9.0 cm×17.0 cm, and the rest of defect wound was covered by skin graft. All the donor sites were sutured directly, except 1 that received abdominal skin graft. Patients had the follow-ups in outpatient clinics, or via telephone or Wechat, to observe the sensation and appearance of the flap, and the healing of the donor site. The recovery of the extension function of the hand was evaluated according to the totle active motion (TAM) system.Results:All flaps survived except one that had vascular compromise after the surgery and it survived after two explorations and a vascular transfer. Postoperative follow-ups lasted for 6 to 24 months, with 13 months in average. At the last follow-up, a all the flaps were found soft in texture and slightly swollen in appearance. There was no obvious pigmentation or rupture of skin and extensor tendon. Sensory recovery achieved to S 2 in 7 patients and S 3 in 3 patients. The hand function was evaluated according to TAM system and rated as excellent for 3 digits, good for 18 digits, fair for 9 digits and poor for 5 digits. There were linear scars in the donor sites. Conclusion:Free ALTF transfer with partial iliotibial tract in the reconstruction of composite tissue defect of dorsal wrists and hands can not only reconstruct the wound surface, but also the extension of digits, which cuts short the course of treatment.

Objective:To explore the clinical effect of repair of distal thumb degloving injury with B-shaped first palmar dorsal neurocutaneous vascular flap.Methods:The clinical data included 15 patients with distal thumb degloving injury received in Yongkang Orthopedic Hospital from March 2015 to June 2018. These patients included 10 males and 5 females, aged between 24 and 61 years. For the injury, 7 cases were beyond the interphalangeal joint, 8 cases were beyond the nail root. The length of the distal segment of degloving finger was 1.8 to 2.3 cm, and the skin and soft tissue defect ranged from 1.8 cm × 4.6 cm to 2.3 cm × 5.6 cm. The distal thumb degloving injury was repaired with B-shaped first palmar dorsal neurocutaneous vascular flap. The radial dorsal metacarpal nerve of the first metacarpal was anastomosed with the ulnar proper digital nerve stump. And full-thickness skin graft transplantation was performed in donor area. After the operation, the shape and function of the thumb were followed up. The sensory function of the skin was determined by British Medical Research Association Sensory Function Evaluation Standard, and the function of the thumb was evaluated with reference to the total active movement (TAM) of fingers of the Chinese Medical Association Hand Surgery Branch.Results:The flap area was 2.0 cm × 5.0 cm-2.5 cm × 6.0 cm, and all the flaps were survived. Follow-up period was 5-18 months after the operation, with an average of 10 months. The flap at the thumb repair site was soft, wear-resistant, non-bloated, no obvious pigmentation. Its protective sensation was restored. The two-point discrimination of the flap reached 8-11 mm, with an average of 9.3 mm, basically restoring the original shape and function of the thumb. There were 13 cases reaching the S3 + flap sensory function, 2 cases reaching S3. The thumb function was evaluated as excellent for 9 cases, and good for 6 cases. There were no complications such as scar contracture and hypersensitivity in the donor area. Conclusions:The repair of distal thumb degloving injury with B-shaped first palmar dorsal neurocutaneous vascular flap can complete skin coverage and sensory reconstruction, with satisfactory postoperative effect.

Objective:To explore the clinical effect of repair of distal thumb degloving injury with B-shaped first palmar dorsal neurocutaneous vascular flap.Methods:The clinical data included 15 patients with distal thumb degloving injury received in Yongkang Orthopedic Hospital from March 2015 to June 2018. These patients included 10 males and 5 females, aged between 24 and 61 years. For the injury, 7 cases were beyond the interphalangeal joint, 8 cases were beyond the nail root. The length of the distal segment of degloving finger was 1.8 to 2.3 cm, and the skin and soft tissue defect ranged from 1.8 cm × 4.6 cm to 2.3 cm × 5.6 cm. The distal thumb degloving injury was repaired with B-shaped first palmar dorsal neurocutaneous vascular flap. The radial dorsal metacarpal nerve of the first metacarpal was anastomosed with the ulnar proper digital nerve stump. And full-thickness skin graft transplantation was performed in donor area. After the operation, the shape and function of the thumb were followed up. The sensory function of the skin was determined by British Medical Research Association Sensory Function Evaluation Standard, and the function of the thumb was evaluated with reference to the total active movement (TAM) of fingers of the Chinese Medical Association Hand Surgery Branch.Results:The flap area was 2.0 cm × 5.0 cm-2.5 cm × 6.0 cm, and all the flaps were survived. Follow-up period was 5-18 months after the operation, with an average of 10 months. The flap at the thumb repair site was soft, wear-resistant, non-bloated, no obvious pigmentation. Its protective sensation was restored. The two-point discrimination of the flap reached 8-11 mm, with an average of 9.3 mm, basically restoring the original shape and function of the thumb. There were 13 cases reaching the S3 + flap sensory function, 2 cases reaching S3. The thumb function was evaluated as excellent for 9 cases, and good for 6 cases. There were no complications such as scar contracture and hypersensitivity in the donor area. Conclusions:The repair of distal thumb degloving injury with B-shaped first palmar dorsal neurocutaneous vascular flap can complete skin coverage and sensory reconstruction, with satisfactory postoperative effect.