Objective:To explore the clinical efficacy of Masquelet technique combined with tissue flap transfer in the treatment of infectious composite bone and soft tissue defects in the early and middle stages after internal fixation for tibial fractures.Methods:From October 2017 to November 2020, 12 patients (13 tibial fractures) with infectious bone and soft tissue defects in the early and middle stages after internal fixation were treated in the Department of Orthopaedics, 988th Hospital of the Joint Logistics Support Force of CPLA by two-phased surgery with retaining internal fixation. Phase I procedures were thoroughly removal of the infected lesions and failed screws, preserving internal implants as many as possible, implantation of absorbable calcium sulphate and an antibiotics blended string of beads into the distal and proximal medullary cavity of the fractured bones, filling the bone defect and wrapping the internal implants with antibiotics loaded bone cement. The size of defects was 3.5 cm × 5.0 cm-7.5 cm × 14.5 cm, and the flaps for wound coverage sized 4.0 cm × 5.5 cm-8.0 cm × 15.0 cm. As for the repair of donor site, 8 limbs were sutured directly, 5 limbs could not be closed completely, and the remaining wounds were covered by skin grafting after suture. Based on well control of infection and stable clinical signs, fillings of bone cement were then removed in Phase II surgery, or 6-9 weeks after primary surgery. Autologous cancellous bone pieces or composite allogeneic bone were fully implanted around the induction membrane formed by Masquelet technique, and auxiliary steel plates were implanted for internal fixation of unstable fractures. After discharge, the patients visited the outpatient clinic regularly, and combined with Wechat follow-up. The texture, colour and bone healing were observed. At the last follow-up, the function of the affected limbs were assessed according to Johner-Wruhs evaluation standard.Results:After Phase I surgery, 13 flaps survived smoothly without vascular compromise. The wounds healed in Phase I. Two patients (2 sides) had recurrent infections. Re-debridement was performed and external fixation was applied after removal of internal fixation. After Phase II surgery, all patients were included in 12-26 months of follow-up, with an average of 18 months. Thirteen lower leg fractures healed well, and the time of bone healing was 16-25 (average 19.5) weeks. The Johner Wruhs criteria was used in evaluation of the function of affected limbs, and it was found that 6 patients were in excellent, 5 in good and 2 in fair.Conclusion:It is feasible while preserving the internal implants, to use membrane induction technique (Masquelet technique) combined with flap transfer, together with the absorbable calcium sulphate antibiotic sustained-release beads as a carrier in the phased treatment of infectious bone defects and bone exposure in the early and middle stages after the surgery of tibial internal fixation. It also gives a higher rate of excellence in surgical outcome. This study explores a treatment procedure for traumatic bone infection combined with composite soft tissue defects.

Objective:To investigate the surgical method and clinical value of free medial sural artery perforator (MSAP) flap for repairing the wound of toe.Methods:The patients with isolated toe skin defects admitted to the Department of Trauma Microsurgery of No.988 Hospital of Joint Logistics Support Force were treated with MSAP flap for wound repair from June 2014 to December 2018. All the donor site were closed primarily. After the operation, the appearance, texture, hair growth and functional recovery of donor and recipient sites were observed through regular follow-up in outpatient or WeChat.Results:A total of 11 cases were enrolled, including 7 males and 4 females, aged from 19 to 44 years, with an average of 31.3 years. The wound sites were located at the first toe in 8 cases, the second toe in 2 cases, and the fourth toe in 1 case. The size of the skin defects was from 2.2 cm×1.8 cm to 5.7 cm×3.8 cm, the primary repair was performed in 4 cases and secondary repair in 7 cases, and the flaps ranged from 2.6 cm×2.1 cm-6.1 cm×4.2 cm. Ten cases survived successfully, and the wounds healed primarily. One case had local necrosis at the distal end of the flap, the wound healed after secondary repair surgery. All patients were followed-up from 6 to 18 months. The appearance of flaps was good in 9 cases and slightly swollen in 2 cases. All flaps had good texture, no discomfort of wearing shoes, no obvious influence on walking, and linear scar remained in the donor area. Three cases were treated with laser hair removal because of the flap hair growth.Conclusions:The method of using a free MSAP flap to repair the small toe wound can restore its appearance to satisfaction and achieve a good aesthetic repair effect.

Objective:To compare the efficacy and safety of cap-assisted endoscopic sclerotherapy (CAES) and procedure for prolapse and hemorrhoids (PPH) for internal hemorrhoids.Methods:This study was a prospective double-blind controlled clinical one. A total of 80 patients with internal hemorrhoids who visited Baoding No.1 Central Hospital from March 2018 to March 2020 and met the inclusion and did not meet exclusion criteria, were randomly divided into CAES group ( n=40) and PPH group ( n=40) by random number table method, and received corresponding treatment respectively. The perioperative indices of the two groups were compared, including intraoperative blood loss, operation time, visual analogue scale (VAS) score at 24 and 48 hours after operation, length of hospital stay, treatment costs, time to return to normal life, and curative rates. The complications within 3 months after operation and the 1-year recurrence after operation were also compared between the two groups. Results:The operation was successfully completed in all patients. The intraoperative blood loss (0.54±0.15 mL VS 7.32±2.17 mL) and treatment cost (6 249.53±435.67 yuan VS 7 832.96±526.74 yuan) in CAES group were significantly lower than those in PPH group ( t=19.714, P<0.05; t=14.650, P<0.05). The length of hospital stay (3.53±0.94 d VS 5.18±1.36 d) and time to return to normal life (5.26±1.28 d VS 7.17±2.09 d) in CAES group were significantly lower than those in PPH group ( t=6.312, P<0.05; t=4.929, P<0.05). There was no significant difference in operation time between the two groups ( t=0.977, P>0.05). The VAS scores at 24 h (2.64±0.70 points VS 3.59±0.93 points) and 48 h (1.28±0.31 points VS 2.16±0.57 points) after operation in CAES group were significantly lower than those in PPH group ( t=5.162, P<0.05; t=8.578, P<0.05). There was no significant difference in the curative rate [90.0% (36/40) VS 97.5% (39/40)] between CAES group and PPH group ( χ2=0.853, P=0.356). During the follow-up period within 3 months after the operation, the incidence of urinary retention [0.0% (0/40) VS 15.0% (6/40)] and pain [2.5% (1/40) VS 22.5% (9/40)] in CAES group was significantly lower than those in PPH group ( χ2=4.504, P<0.05; χ2=7.314, P<0.05). No other complications occurred in the 80 patients. After 1 year of follow-up, the recurrence rate of CAES group was 7.5% (3/40), which was not statistically different from that in PPH group [5.0% (2/40), χ2=0.180, P>0.05]. Conclusion:As a new minimally invasive technique for the treatment of internal hemorrhoids, CAES has similar curative rate and 1-year recurrence rate to PPH. Compared with PPH, CAES shows the advantages of less trauma, less pain, faster recovery and lower cost.

Objective:To investigate the efficacy of the nutrient vessel of medial and lateral sural subcutaneous nerve chimeric tissue flap based on posterior perforating branch of peroneal artery to repair the composite tissue defect in the Achilles tendon area.Methods:From January 2016 to June 2021, 12 patients suffering from infectious wound with defect of Achilles tendon were treated in the Department of Trauma and Microscopic Orthopaedics, 988th Hospital of the Joint Logistics Support Force of PLA. The area of soft tissue defect around Achilles tendon was 2.5 cm× 4.5 cm-8.0 cm×12.5 cm, and the length of the defect of Achilles tendon was 3.0-7.0 cm. The defect around the Achilles tendon were repaired with the nutrient vessel of medial and lateral sural subcutaneous nerve chimeric Achilles tendon flap (ATF) and the posterior perforating branch of peroneal artery was used as the vessel of blood supply. The size of flap was 3.0 cm×5.0 cm-9.0 cm×13.0 cm, and the size of the ATF was 3.0 cm×4.0 cm-3.0 cm×8.0 cm. The donor sites were sutured directly (8 cases) or repaired with skin graft (4 cases). External fixation were put on for 6 weeks after surgery. Then the external fixation was removed and the functional exercise gradually started. Outpatient clinic follow-ups were carried out regularly. Thermann Achilles tendon function assessment system was used to evaluate the last follow-up.Results:The chimeric ATF was harvested and the blood supply of each flap was good during the operation. There was no vascular crisis after surgery. The flaps survived smoothly and the wound achieved grade A healing. All patients were entered follow-up that lasted for 10-24 months. There was good appearance of flaps with minor bloating, and the colour of flaps was similar to the skin around the receiving site. The texture was soft with normal function of the lower legs and ankle. Tendon function was evaluated by Thermann Achilles tendon function assessment system, the result were 8 cases in excellent and 4 cases in good.Conclusion:The nutrient vessel of medial and lateral sural subcutaneous nerve chimeric tissue flap based on posterior perforating branch of peroneal artery can accurately repair a composite tissue defect in the Achilles tendon area, and it is one of the effective methods for the repair of a composite soft tissue wound with Achilles tendon defect.

Objective:To investigate the surgical method and clinical value of free medial sural artery perforator (MSAP) flap for repairing the wound of toe.Methods:The patients with isolated toe skin defects admitted to the Department of Trauma Microsurgery of No.988 Hospital of Joint Logistics Support Force were treated with MSAP flap for wound repair from June 2014 to December 2018. All the donor site were closed primarily. After the operation, the appearance, texture, hair growth and functional recovery of donor and recipient sites were observed through regular follow-up in outpatient or WeChat.Results:A total of 11 cases were enrolled, including 7 males and 4 females, aged from 19 to 44 years, with an average of 31.3 years. The wound sites were located at the first toe in 8 cases, the second toe in 2 cases, and the fourth toe in 1 case. The size of the skin defects was from 2.2 cm×1.8 cm to 5.7 cm×3.8 cm, the primary repair was performed in 4 cases and secondary repair in 7 cases, and the flaps ranged from 2.6 cm×2.1 cm-6.1 cm×4.2 cm. Ten cases survived successfully, and the wounds healed primarily. One case had local necrosis at the distal end of the flap, the wound healed after secondary repair surgery. All patients were followed-up from 6 to 18 months. The appearance of flaps was good in 9 cases and slightly swollen in 2 cases. All flaps had good texture, no discomfort of wearing shoes, no obvious influence on walking, and linear scar remained in the donor area. Three cases were treated with laser hair removal because of the flap hair growth.Conclusions:The method of using a free MSAP flap to repair the small toe wound can restore its appearance to satisfaction and achieve a good aesthetic repair effect.

OBJECTIVE: To explore the genetic basis for a child with mental and motor retardation, language impairment, facial dysmorphism and epilepsy. METHODS: Whole exome sequencing was carried out to detect pathogenic variant in the proband, and candidate variant was selected based on his phenotype. Sanger sequencing was used to verify the variant in the proband, his parents and other family members. RESULTS: The proband was found to carry a frameshifting mutation of MBD5 gene, namely c.2217delT (p.F739Lfs*6), which was inherited from his mother and unreported previously. Sanger sequencing confirmed that his brother carried the same mutation with a similar phenotype. His mother also had poor language expression when she was young, in addition with poor academic performance, though she could do some housework and had no history of convulsion. CONCLUSION A novel pathogenic variant of the MBD5 gene was discovered, which has enriched the mutational spectrum of the MBD5 gene. Above discovery has enabled genetic counseling and prenatal diagnosis for the family.
Child ; DNA-Binding Proteins/genetics* ; Female ; Humans ; Intellectual Disability/genetics* ; Male ; Mutation ; Pedigree ; Phenotype ; Pregnancy ; Whole Exome Sequencing

Objective:To investigate the clinical characteristics and gene variation of asparagine synthase deficiency that is caused by ASNS gene variation. Methods:In Department of Neuroendocrine Pediatrics, Affiliated Hospital of Qingdao University from October 2018 to February 2020, the clinical data of a family of asparagine synthase deficiency were analyzed retrospectively.The pathogenic mutation of the proband was screened by the full exon analysis technique.The pathogenic sites of candidate genes were determined by combining the phenotype of the proband.In the heterotopic spot of the proband, his parents and other family members were verified by Sanger sequencing.Meanwhile, the relevant literature database was consulted, and the reported ASNS mutation related cases were collected and reviewed. Results:The female with proband visited the hospital at the age of 4 months, and she had recurrent convulsions at the age of about 3 months.Physical examination showed that the child suffered from microcephaly, and mental and motor retardation.Meanwhile, video electroencephalogram examination displayed extensive moderate high amplitude spiny slow wave and sharp slow wave.Exon sequencing illustrated that the compound heterozygous variants of ASNS gene were c. 1211G>A (p.R404H) and c. 1643C>T (p.S548F), respectively.c.1211G>A was a known pathogenic variant, and c. 1643C>T was a new variant.The proband′s younger brother visited the hospital at the age of 2 months, developed convulsions at the age of 1 month, and developed mental and motor retardation.Electroencephalogram displayed that bilateral posterior head was dominant, multiple foci and extensive spike wave, and spike slow wave and fast wave were distributed.Sanger sequencing revealed the same ASNS compound heterozygous variants as the proband.Both of them died of status convulsion at the age of 7 months and 6 months, respectively. Conclusions:This study is helpful to further understand the clinical features of the disease and reveal a new pathogenic mutation of ASNS gene, so as to enrich the mutation spectrum of ASNS gene, thus providing important basis for clinical treatment and genetic counseling.

Objective To investigate the clinicopathologic factors associated with neck control and distant metastasis in patients with neck metastases in head and neck squamous cell carcinoma (HNSCC)after postoperative radiation as adjuvant treatment.Methods Clinicopathologic data of 208 pathologic N + (pN +) patients with HNSCC initially treated with neck dissection and postoperative radiation in Bethune International Peace Hospital of China from January 2004 to December 2009 were reviewed.The clinicopathologic factors,includeding age,sex,primary tumor site,pathologic T and N stage,tumor growth pattern,histological grade,tumor resection margin,size and number of positive lymph node,number of levels with positive lymph node,and extracapsular nodal spread (ECS),were evaluated for their association with neck control and distant metastasis in patients with HNSCC after postoperative radiation.Univariate x2 test and multiple stepwise logistic regression model were used for the analysis.Results Overall 5-year neck control rate after postoperative radiotherapy was 72.6％ (151/208),with 84.0％ (63/75) for SND,72.9％ (78/107) for MRND,and 38.5％ (10/26) for RND,respectively.Univariate analysis showed that neck control after postoperative radiation was related with following factors:primary tumor site,pathologic N stage,size of positive node,number of levels with positive node,number of positive node,and ECS.Pathologic N stage and number of levels with positive lymph node were associated with distant metastasis.Multivariate analysis indicated that ECS was the most significant risk factor for neck metastasis after surgery and postoperative radiotherapy and the number of levels with positive node was the most significant risk factor for distant metastasis.Conclusions ECS is the most important pathologic factor in planning postoperative adjuvant treatment for pN + patients with HNSCC,therefore ECS should be evaluated routinely after neck dissection.The value of postoperative radiotherapy in controlling the ECS-related recurrence after surgery is limited.Postoperative concurrent chemoradiotherapy and targeted therapy can be considered in HNSCC patients with ECS.

OBJECTIVETo investigate the clinicopathologic features and associated risk factors for bilateral neck node metastasis (BNM) in head and neck squamous cell carcinoma (HNSCC).

METHODSTwo hundred eighty-six cases with HNSCC were retrospectively studied, including 83 cases of oral tongue cancers, 101 cases of hypopharyngeal cancers and 102 cases of supraglottic laryngeal cancers. All patients had unilateral or bilateral cervical lymph node metastasis confirmed by postoperative pathologic examinations. The following factors were evaluated to determine the risk for BNM in HNSCC: T staging, size, location, trans-midline condition, growth pattern, pathologic grading and infiltration of primary tumors; N staging; the size, number and extracapsular spread (ECS) of ipsilateral metastatic nodes; the number of involved levels on the ipsilateral neck. Chi-square test and logistic regression test were used for statistical analysis.

RESULTSBNM was found in 86 (30.1%) of 286 patients with HNSCC, including 52 (18.2%) cases of contralateral occult neck node metastasis. The incidence of BNM was 35.6% (36/101) in hypopharyngeal cancer, 31.4% (32/102) in supraglottic laryngeal cancer and 21.7% (18/83) in oral tongue cancer, respectively. N staging, the number and ECS of ipsilateral metastatic nodes, and the number of involved levels on the ipsilateral neck were important factors contributing to BNM. Multiple logistic regression analysis revealed that midline passing of primary tumor was associated with BNM in oral tongue cancer. The midline passing and ECS of ipsilateral metastatic node were key factors for BNM in hypopharyngeal and supraglottic laryngeal cancers. T staging, size and midline passing of primary tumor were closely related to BNM in oral tongue cancer. T staging and midline passing were associated with BNM in hypopharyngeal cancer. Midline passing was an important factor related to BNM in supraglottic laryngeal cancer.

CONCLUSIONMidline passing of primary tumor is the most important factor determining BNM in hypopharyngeal, supraglottic laryngeal and oral tongue cancers, whereas ECS of ipsilateral metastatic node is the most important factor impacting BNM in hypopharyngeal and supraglottic laryngeal cancers.

Adult ; Aged ; Aged, 80 and over ; Carcinoma, Squamous Cell ; pathology ; Female ; Head and Neck Neoplasms ; pathology ; Humans ; Lymph Nodes ; pathology ; Lymphatic Metastasis ; Male ; Middle Aged ; Prognosis ; Retrospective Studies ; Risk Factors

Objective To investigate the clinicopathologic features and associated risk factors for bilateral neck node metastasis ( BNM ) in head and neck squamous cell carcinoma ( HNSCC ).Methods Two hundred eighty-six cases with HNSCC were retrospectively studied , including 83 cases of oral tongue cancers, 101 cases of hypopharyngeal cancers and 102 cases of supraglottic laryngeal cancers.All patients had unilateral or bilateral cervical lymph node metastasis confirmed by postoperative pathologic examinations .The following factors were evaluated to determine the risk for BNM in HNSCC: T staging, size, location, trans-midline condition, growth pattern, pathologic grading and infiltration of primary tumors;N staging;the size, number and extracapsular spread (ECS) of ipsilateral metastatic nodes;the number of involved levels on the ipsilateral neck.Chi-square test and logistic regression test were used for statistical analysis.Results BNM was found in 86 (30.1%) of 286 patients with HNSCC, including 52 (18.2%) cases of contralateral occult neck node metastasis.The incidence of BNM was 35.6% ( 36/101 ) in hypopharyngeal cancer , 31.4% (32/102) in spuraglottic laryngeal cancer and 21.7%(18/83) in oral tongue cancer , respectively.N staging, the number and ECS of ipsilateral metastatic nodes , and the number of involved levels on the ipsilateral neck were important factors contributing to BNM.Multiple logistic regression analysis revealed that midline passing of primary tumor was associated with BNM in oral tongue cancer.The midline passing and ECS of ipsilateral metastatic node were key factors for BNM in hypopharyngeal and supraglottic laryngeal cancers.T staging, size and midline passing of primary tumor were closely related to BNM in oral tongue cancer.T staging and midline passing were associated with BNM in hypopharyngeal cancer.Midline passing was an important factor related to BNM in supraglottic laryngeal cancer.Conclusion Midline passing of primary tumor is the most important factor determining BNM in hypopharyngeal , supraglottic laryngeal and oral tongue cancers , whereas ECS of ipsilateral metastatic node is the most important factor impacting BNM in hypopharyngeal and supraglottic laryngeal cancers.