Objective:To explore the clinical effects of early rehabilitation treatment after repair surgery of skin and soft tissue defects accompanied by extensor tendon injury on the back of hand.Methods:This study was a retrospective non-randomized controlled study. From February 2015 to February 2023, 24 patients (15 males and 9 females, aged 12-55 years) with skin and soft tissue defects accompanied by extensor tendon injury on the back of hand, who met the inclusion criteria and were repaired with flap transplantation and tendon grafting or tendon anastomosis, were admitted to the First Affiliated Hospital of Air Force Medical University. According to different intervention time for postoperative rehabilitation treatment of patients, the patients were divided into conventional rehabilitation group and early rehabilitation group, with 12 cases in each group. Patients in early rehabilitation group received rehabilitation treatment immediately after surgery under the rehabilitation guidance of specialized rehabilitation physicians based on the characteristics of different postoperative periods. Patients in conventional rehabilitation group began rehabilitation treatment from the third week after surgery, and their rehabilitation treatment was the same as that of patients in early rehabilitation group from the second week after surgery. The patients in 2 groups were treated in the hospital until the sixth week after surgery. The occurrence of flap vascular crisis and tendon rupture were observed within 6 weeks after surgery. After 6 weeks of surgery, the manual muscle test was used to measure the pinching force between the index finger and thumb, lateral pinching force, three-point pinching force, and grip force of the affected hand; the total action motion method was used to evaluate the finger joint range of motion of the affected hand, and the excellent and good ratio was calculated; the Carroll upper extremity function test was used to score and rate the function of the affected hand.Results:Within 6 weeks after surgery, only 1 patient in conventional rehabilitation group suffered from venous crisis, and the flap survived after the second surgical exploration and anastomosis of blood vessels; there was no occurrence of tendon rupture in patients of 2 groups. After 6 weeks of surgery, there were no statistically significant differences in pinching force between the index finger and thumb, lateral pinching force, three-point pinching force, or grip force of the affected hand between the two groups of patients ( P>0.05); the excellent and good ratio of the finger joint range of motion of the affected hand of patients in early rehabilitation group was 11/12, which was higher than 7/12 in conventional rehabilitation group, but there was no statistically significant difference ( P>0.05); the affected hand function score of patients in early rehabilitation group was 90±6, which was significantly higher than 83±8 in conventional rehabilitation group ( t=2.41, P<0.05); the function rating of the affected hand of patients in early rehabilitation group was obviously better than that in conventional rehabilitation group ( Z=2.04, P<0.05). Conclusions:Early rehabilitation treatment for patients with skin and soft tissue defects accompanied by extensor tendon injury on the back of hand after repair surgery can improve hand function, but it would not increase surgery related complications, which is worthy of clinical promotion and application.

Calcium-activated chloride channels(CaCCs)are a class of channel proteins that trans-port chloride ions activated by intracellular calcium,which play a crucial role in regulating membrane potential,intracellular calcium balance,and cell excitability,particularly in neurons and muscle cells.In the Anoctamin(Ano)family,Ano1 is the most classic CaCC.Targeted modulators of Ano1 have poten-tial therapeutic effects against such diseases as cancer,cystic fibrosis,hypertension,diarrhea,and asthma.Since the discovery of Ano1 in 2008,several methods for screening CaCC-specific modulators have emerged including high-throughput primary screening of fluorescent proteins,electrophysiological patch clamp technique and virtual screening,and identification of small molecule modulators with diverse pharmacological effects.This paper summarizes the principles,advantages and disadvantages of the mainstream screening methods,and reviews the chemical structures and potential applications of Ano1-specific modulators discovered to date.

OBJECTIVE: To validate a fetus with high risk for trisomy 13 suggested by non-invasive prenatal testing (NIPT). METHODS: The fetus was selected as the study subject after the NIPT detection at Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences on February 18, 2019. Clinical data of the pregnant woman was collected. Fluorescence in situ hybridization (FISH), chromosomal karyotyping analysis and chromosomal microarray analysis (CMA) were carried out on amniotic fluid and umbilical cord blood and the couple's peripheral blood samples. Copy number variation sequencing (CNV-seq) was also performed on the placental and amniotic fluid samples following induced labor. RESULTS: The pregnant woman, a 38-year-old G4P1 gravida, was found to have abnormal fetal development by prenatal ultrasonography. NIPT test suggested that the fetus has a high risk for trisomy 13. Chromosomal karyotyping analysis of fetal amniotic fluid and umbilical cord blood were 46,XN,add(13)(p10). The result of CMA was arr[hg19]1q41q44(223937972_249224684)×3, with the size of the repeat fragment being approximately 25.29 Mb, the fetal karyotype was thereby revised as 46,XN,der(13)t(1;13)(q41;p10). Chromosomal karyotyping analysis and CMA of the parents' peripheral blood samples showed no obvious abnormality. The CNV-seq analysis of induced placenta revealed mosaicisms of normal karyotype and trisomy 13. The CNV-seq test of induced amniotic fluid confirmed a duplication of chr1:22446001_249220000 region spanning approximately 24.75 Mb, which was in keeping with the CMA results of amniotic fluid and umbilical cord blood samples. CONCLUSION NIPT may yield false positive result due to placenta mosaicism. Invasive prenatal diagnosis should be recommended to women with a high risk by NIPT test. And analysis of placenta can explain the inconsistency between the results of NIPT and invasive prenatal diagnosis.
Humans ; Female ; Pregnancy ; Trisomy 13 Syndrome/genetics* ; DNA Copy Number Variations ; Placenta ; Chromosomes, Human, Pair 1 ; In Situ Hybridization, Fluorescence ; Prenatal Diagnosis/methods* ; Fetus ; Amniotic Fluid ; Chromosome Aberrations ; Trisomy/genetics*

Objective:To investigate feasibility and clinical effect of free anterolateral thigh flap(ALTF) with reversed arterial flow in repair of foot and ankle wounds in children.Methods:From October 2014 to February 2021, the free ALTF with reversed arterial flow was used to repair the wounds in 7 children with severe soft tissue injury and main blood vessel injury in the Department of Hand & Foot Surgery of the Second Affiliated Hospital of University of South China. Of the 7 injured children, 5 were caused by traffic accident, 1 by mechanical strangulation and 1 by heavy object. The size of wounds ranged from 6.0 cm×8.0 cm to 9.0 cm×11.0 cm. ALTF were designed to be anastomosed with the blood vessels at the recipient sites by retrograde blood supply. The size of flaps ranged from 6.0 cm×8.0 cm to 10.0 cm×11.0 cm. All flap donor sites were pulled together and directly sutured. Follow-ups were conducted through outpatient clinic visits, telephone call and WeChat reviews in the 1st, 3rd, 6th, 12th and 24th months after surgery. The major contents in follow-up were the shape, colour, texture, sensation of flap and function of ankles.Results:All donor sites healed at I stage. A total of 5 flaps survived successfully; One flap had venous occlusion after surgery, and the flap survived after surgical exploration; One flap had partial necrosis after surgery, and repaired with artificial dermis after further debridement. Postoperative follow-up lasted for 6-24 months, with an average of 10.5 months. All flaps appeared in similar colour and texture to the surrounding soft tissues. Two children underwent flap repair after half a year due to bloated flaps. The Ankle-hind foot Function Score of American Orthopedic Foot Ankle Society(AOFAS) was used to evaluate the ankle function. AOFAS achieved 84-94 points, with 5 children in excellent and 2 in good. The sensation recovered to S 3+ in 5 children, S 3 in 1 child and S 2 in 1 child, according to the standard of British Medical Research Council (BMRC). Conclusion:For the children with severe soft tissue injury combined with main vascular injury in foot and ankle, free ALTF with reversed arterial flow can repair the defect and effectively secure the blood supply. It is a feasible method for wound repair.

Penetrating head injury is a serious open cranial injury. In civilians, it is often caused by non-missile, low velocity flying objects that penetrate the skull through a weak cranial structure, forming intracranial foreign bodies. The intracranial foreign body can be displaced due to its special quality, shape, and location. In this paper, we report a rare case of right-to-left displacement of an airgun lead bullet after transorbital entry into the skull complicated by posttraumatic epilepsy, as a reminder to colleagues that intracranial metal foreign bodies maybe displaced intraoperatively. In addition, we have found that the presence of intracranial metallic foreign bodies may be a factor for the posttraumatic epilepsy, and their timely removal appears to be beneficial for epilepsy control.

Objective:To discuss the efficacy of pelvic lymph node dissection (PLND) on the patients undergoing radical cystectomy (RC).Methods:The clinicopathological data of bladder cancer patients who did not receive neoadjuvant chemotherapy and underwent RC in our center from November 2013 to December 2019 were collected. The average age of the patients was (67.4±10.9) years, including 284 males and 55 females. Postoperative pathology showed that 171 cases of MIBC and 168 cases of NMIBC. In the MIBC group, 124 patients received PLND. In the NMIBC group, 118 patients received PLND. There was no statistical difference of the PLND ratio between the two groups(72.5% vs. 65.5%, P=0.643). The average number of lymph nodes(LNs)in patients receiving PLND was(13.7±7.1). Explore the prognostic factors in NMIBC and MIBC respectively. The Kaplan-Meier method was used to analyze the effect of PLND on the prognosis of patients in MIBC and NMIBC group. Results:In MIBC group, 26 patients showed positive LNs, while 98 had negative LNs. 144 cases were high-grade urothelial carcinoma, and 47 cases received adjuvant treatment. In NMIBC group, 4 patients exhibited positive LNs, while 114 had negative LNs. 99 cases were high-grade urothelial carcinoma, and 15 cases received adjuvant treatment. After a median follow-up of 24(13, 43)months, Kaplan-Meier survival analysis showed that the 5-year overall survival(OS)of 395 patients was 63.6%. MIBC had a 5-year OS rate of 47.5%, while NMIBC had a rate of 79.1%. Univariate Cox regression showed that age≥65 years( HR=2.07, 95% CI 1.21-3.54, P=0.009), high tumor grade( HR=9.76, 95% CI 2.39-39.90, P<0.01), and positive lymph nodes( HR=2.47, 95% CI 1.27-4.78, P=0.008)were risk factors for the prognosis of MIBC.PLND ( HR=0.37, 95% CI 0.23-0.60, P<0.01) and adjuvant therapy ( HR=0.21, 95% CI 0.10-0.46, P<0.01) were protective factors of MIBC. However, the only risk factor of NMIBC was high tumor grade ( HR=6.66, 95% CI1.51-29.50, P=0.012). PLND had no effect on the prognosis of NMIBC patients following RC( HR=1.32, 95% CI 0.37-4.75, P=0.667). Multivariate COX regression analysis revealed that high tumor grade( HR=6.38, 95% CI 1.54-26.50, P=0.011) was independent risk factor of MIBC, PLND( HR=0.59, 95% CI 0.35-0.99, P=0.047), as well as adjuvant therapy ( HR=0.30, 95% CI 0.13-0.68, P=0.004) were independent protective factors of MIBC. Further analysis discovered that MIBC patients with negative LNs had a better prognosis than those with no PLND (62.4% vs. 16.1%, P<0.01)and positive LNs(62.4% vs.32.3%, P=0.005). However, there was no difference in prognosis between the negative LNs and no PLND group in NMIBC patients (81.3% vs. 66.6%, P=0.764). Conclusions:This study found that PLND was an independent predictive factor for MIBC patients receiving radical cystectomy.

Objective:To investigate the effects of anterolateral thigh chimeric perforator flap in repairing complex wounds of foot and ankle.Methods:A retrospective observational study was conducted. From May 2018 to June 2022, 23 patients who met the inclusion criteria were admitted to the First Affiliated Hospital of Air Force Medical University to repair complex wounds of foot and ankle with anterolateral thigh chimeric perforator flaps, including 15 males and 8 females, aged from 20 to 66 years. The wounds were all accompanied by bone exposure and defects, and were complicated with varying degrees of infection. All patients underwent debridement and continuous vacuum sealing drainage treatment for 1 week in stage Ⅰ, with the skin and soft tissue defect area after debridement being 10 cm×5 cm to 22 cm×7 cm. In stage Ⅱ, the anterolateral thigh chimeric perforator flap was used to cover the defective wound, of which the muscle flap was used to fill the deep invalid cavity of the ankle joint or cover bone and internal fixation exposures, and the skin flap was used to cover the superficial wound, with the area of the skin flap ranging from 11 cm×6 cm to 23 cm×8 cm, and the area of the muscle flap ranging from 4.0 cm×2.5 cm to 8.0 cm×5.0 cm. The survival of the flap was observed after operation. During follow-up, the color, texture, appearance, and complications of the flap were observed, the function of ankle joint and its range of dorsiflexion motion and plantar flexion motion were measured, and the scar hyperplasia and muscular hernia in donor area were observed.Results:Ecchymosis and epidermal necrosis occurred at the tip of the flap in 1 patient on 5 days after operation and healed after dressing change for 1 week; the other flaps of patients survived successfully. After 6 to 40 months of follow-up, the color, texture, and shape of flaps were good, but 1 patient was not satisfied with the shape of the flap because of flap swelling; the ankle joint movement was basically normal, the dorsiflexion motion was 15-30°, and the plantar flexion motion was 20-45°; the scar hyperplasia in the donor area of the flap was not obvious, and no muscular hernia occurred.Conclusions:The anterolateral thigh chimeric perforator flap can effectively fill the deep invalid cavity of ankle joint and cover the superficial wound at the same time, with minimal damage to the donor site. So it is an ideal flap for repairing the complex wounds of foot and ankle.

Objective:To explore the advantages and value for clinical application of clavicle segment osteotomy approach with pectoralis major muscle pedicle in surgical resection of posterior brachial plexus tumour.Methods:From April 2010 to December 2020, 6 patients with brachial plexus tumour behind the clavicle were treated. Two patients had the tumour on the left brachial plexus and 4 on the right. Two patients had the tumours located in the upper trunk of brachial plexus, 2 in the middle trunk, 1 in the medial plexus and 1 in the posterior bundle. The neurological function evaluation were grade II in 3 cases and grade III in 1 case preoperatively. The tumours sized from 3.0 cm× 3.0 cm×2.0 cm to 11.0 cm×8.0 cm×6.0 cm. The clavicular segment osteotomy approach with the pedicle of the pectoralis major was applied in order to expose the surgical field and remove the nerve tumour. All patients underwent regular postoperative outpatient clinic follow-up to record the sensation of the affected limb and the recovery of muscle strength, tumour recurrence and fracture healing.Results:In the operation, it was found that there was still a little glial-like tissue in the nerve sheath after complete dissection of the tumours in 2 patients. Postoperative pathological examination reported that there were 4 schwannoma, 1 malignant peripheral schwannoma and 1 neurolipoma. The postoperative follow-up lasted for 6 to 34 months, with an average of 12.8 months. All patients showed no symptoms of brachial plexus injury or tumour recurrence. The clinical symptoms were relieved or disappeared. The neurological function evaluation reached grade III in 5 patients and grade IV in 1 case. At the same time, the internal fixation of the clavicle was satisfactory and achieved bone union in all cases. Fracture healing time was 2.5 to 4.5 months, with an average of 3.2 months. The internal fixation was removed from 3 patients after operation in 1 year. No obvious limb movement disorder and periarthritis of shoulder and other complications occurred.Conclusion:The transclavicular osteotomy approach with the pedicle of the pectoralis major can fully expose the anatomical alignment of the brachial plexus and the relationship adjacent and between the tumour and the surrounding tissues in the surgery for a brachial plexus tumour behind the clavicle, which is helpful for a complete tumour resection. It is a feasible method to treat brachial plexus tumour behind the clavicle by finding residual tumour-like tissue, reducing the risk of surgery and tumour recurrence, and providing excellent blood supply to the osteotomy segment of the clavicle to promote fracture healing.

A 44-year-old pregnant woman (G5P3) who had delivered two children with DMD was admitted and underwent prenatal diagnosis at Peking Union Medical College Hospital in 2019. (1) The karyotype of the fetus in 2019 was 47,XXY. The fluorescence in situ hybridization (FISH) result showed a nucish(CSPX×2, CSPY×1)[100] and multiplex ligation-dependent probe amplification (MLPA) suggested sex chromosome abnormality. Based on the above results, the fetus was diagnosed with Klinefelter syndrome. Fetal short tandem repeat (STR) linkage analysis and Sanger sequencing indicated a heterozygous mutation of c.9543delG(p.Trp3181CysfsTer2). (2) Sanger sequencing of the proband found a novel frameshift mutation of c.9543delG(p.Trp3181CysfsTer2 ) in exon 65 of the DMD gene. (3) The male fetus performing prenatal diagnosis in 2008 was found to have the same maternal gene markers as the proband with the same genotype. While the genotype of the fetus in 2009 obtained a different maternal gene marker from the proband and did not detect the same DMD gene mutation. This fetus was delivered at full term and was good during follow-up. (4) The elder brother and cousin of the proband had the same frameshift mutation in exon 65 of the DMD gene as the proband. The mother of the proband was a heterozygous carrier of the mutation.

Objective: To investigate the impact of maternal X chromosome aneuploidies on cell free DNA (cf-DNA) prenatal screening. Methods: After genetic counseling, invasive prenatal diagnosis was provided for the 124 cases with high risk of sex chromosome aneuploidie (SCA) indicated by cf-DNA prenatal screening. For cases with discordant results of fetal prenatal diagnosis and cf-DNA prenatal screening, maternal leukocyte was collected for copy number variation sequencing (CNV-seq) to detect whether the maternal X chromosome was carrying variations. Results: Totally, 124 cases with high risks of SCA indicated by cf-DNA prenatal screening, 9 cases refused to take invasive prenatal diagnosis, while the remaining 115 cases received. Among the 115 cases, 41 cases received accordant results with cf-DNA prenatal screening while 74 cases discordant. Among the 74 cases with discordant results, 19 cases were indicated with maternal X chromosome variations by maternal leukocyte CNV-seq, which accounting for 25.7% (19/74) of the SCA false positive cases, and 15.3% (19/124) of all SCA cases. Conclusions Pregnant women with X chromosome variations may affect the results of cf-DNA prenatal screening, resulting in false positive or false negative outcomes, it should be emphasized that the cf-DNA results may be affected by maternal X chromosome variations. In cases with discordant results of prenatal diagnosis and cf-DNA prenatal screening, maternal leukocyte CNV-seq is recommended to find the reasons of false positive or negative results. And cf-DNA prenatal screening is not recommended for pregnant women who are already known with X chromosome variations.