[Clinical, imaging and pathological and molecular characteristics of simple bone cyst].

Objective: To investigate the radiologic, pathologic, and molecular features of simple bone cysts (SBC), and their differential diagnoses. Methods: Fourteen cases of SBC were collected at the Department of Pathology, the First Affiliated Hospital of Nanjing Medical University from 2017 to 2022, and fluorescence in situ hybridization (FISH) was performed for retrospective analysis. Results: There were 14 patients, including 7 females and 7 males, with age range of 7 to 45 (median 29) years. The most common complaint was pain, including 4 cases with pathological fracture and 5 with history of previous trauma. The tumor size ranged from 3.4 to 13.5 (median 5.6) cm. The lesion involved the femur (n=4), humerus (n=5) and iliac bone (n=5). Radiologic diagnoses included SBC, aneurysmal bone cyst, and giant cell tumor of the bone or its combination with aneurysmal bone cyst-like region and fibrous dysplasia. Histologically, the cyst walls of the lesions were composed of fibrous tissue, fibrin-like collagen deposits, bone-like matrix and occasional woven bone. The lesional cells were spindled to ovoid, with scattered osteoclast-like giant cells, foamy histiocytes, hemosiderin deposits and cholesterol clefts. In 6 cases there were nodular fasciitis-like areas. Immunohistochemically, the spindled to ovoid cells were positive for SMA, EMA and SATB2 in varying degrees. FISH detection was performed in all 14 cases and EWSR1/FUS rearrangement were found in 9 cases. One case of FUS::NFATC2 fusion was detected by next-generation sequencing. Nine cases of SBC with the rearrangement were more cellular, and there were more mitotic figures in the recurrent FUS::NFATC2 fusion tumor. Clinical follow-up was obtained in all 14 cases with the time ranging from 5 to 105 (mean 46) months. Amongst them, the tumor with FUS::NFATC2 rearrangement had local recurrence twice after the first local excision, but had no more recurrence or metastasis 34 months after the subsequent segmental resection. The other 13 cases had no recurrence. Conclusions: EWSR1 or FUS rearrangement is most commonly identified in SBC, suggesting that SBC might be a neoplastic disease. In cases where the radiologic appearance and histomorphology are difficult to differentiate from aneurysmal bone cyst, FISH detection can aid in the definitive diagnosis.

[Brief introduction on compilation and editions of Yang ke xuan cui].

Yang ke xuan cui («¼) is a surgical work compiled by Chen Wenzhi () of the Ming Dynasty. There are few of research on the completion and author of the book. Based on the evidences in the local chronicles, the prefaces and postscripts of the book, it has been verified that the book was originally completed no later than 1591, and Chen Wenzhi passed away no later than 1623. After investigating the 6 editions collected by 8 institutions, a collection of 11 books in total, by comparing the characteristics and circulation relationship of each edition, two systems of circulation were sorted out: block-printed edition of Xu Xi () and review edition of Xu Dachun ().

[Effect of exercise intervention on musculoskeletal disorders in nursing staff].

Objective: To evaluate the effects of exercise intervention on musculoskeletal disorders (MSD) in nursing staff. Methods: In september 2021, we searched the articles on exercise intervention for nurses with musculoskeletal diseases in Embase, PubMed, ClinicalTrails, Wanfang, CNKI and other databases in September 2021, and the search period was from database creation to August 2021. The quality of article was evaluated by Cochrane bias risk assessment tool and MINORS. The systematic review method with narrative synthesis was used to analyze the research results. Results: A total of 7 studies were included, including 6 randomized controlled trials and 1 quasi-experiment. The sample size of the experimental group was 276, and the control group was 273. Depending on the type of exercise intervention, muscle strength training, muscle strength training+stretch/flexibility training, Back School program can reduce the local pain of nursing staff. Among them, muscle strength training can improve the nursing staff's muscle function and quality of life, muscle strength training+stretching/flexibility training can increase muscle strength, range of physical activity and self-efficacy, the Back School program is effective for improving poor posture. Conclusion: Exercise intervention is effective on controlling musculoskeletal disorder symptoms in nursing staff, managers can develop exercise strategies for different MSD symptoms.

[Clinical characteristics and pregnancy outcomes of non-criteria obstetric antiphospholipid syndrome].

Objective: To study clinical characteristics and pregnancy outcomes under anti-coagulation therapy of non-criteria obstetric antiphospholipid syndrome. Methods: Patients suspected of obstetric antiphospholipid syndrome(OAPS) were recruited through Chinese Rheumatism Data Center from 2015 to 2019 consecutively. Patients fulfilling 2006 Sydney revised antiphospholipid syndrome criteria were classified as OAPS. Patients fulfilling definition of non-criteria OAPS(NCOAPS) by expert consensus on diagnosis and management of obstetric antiphospholipid syndrome of China were classified as NCOAPS. Clinical characteristics and laboratory results of two groups were compared. Live birth rates and pregnancy outcomes under anti-coagulation therapy were studied. Results: A total of 88 patients were enrolled, including 56 patients (63.6%) as OAPS, 32(36.4%) as NCOAPS. Live births were only reached in 16.1% (9/56) in OAPS patients and 12.5%(4/32) in NCOAPS. Fetal losses after 10 weeks of gestation and pre-eclampsia before 34 weeks were more common in OAPS group compared to NCOAPS group [78.6%(44/56) vs. 18.8%(6/32), P<0.001; 25.0%(14/56) vs. 3.1%(1/32), P=0.020, respectively]. After enrollment, 15 pregnancies were recorded in OAPS, 10 in NCOAPS, all of whom were treated with low-dose aspirin (LDA) combined with low-molecular weight heparin (LMWH). Live birth rates saw dramatic improvements compared to baseline levels in OAPS [16.1% (9/56) vs. 11/15] along with NCOAPS [12.5% (4/32) vs. 7/10]. Conclusion: Though NCOAPS and OAPS patients differ in antiphospholipid antibody spectrum and pattern of pregnancy morbidities, both groups benefit from LDA combined with LWMH treatment, as live birth rates improve. Non-criteria OAPS patients are recommended to receive anti-coagulation therapy during pregnancy.

[Clinical effects of neurocutaneous vascular flap innervated by terminal branch of lateral antebrachial cutaneous nerve in repairing finger tip or finger pulp wounds of the thumb].

Objective: To investigate the clinical effects of neurocutaneous vascular flap innervated by terminal branch of lateral antebrachial cutaneous nerve in repairing finger tip or finger pulp wounds of the thumb. Methods: A retrospective observational study was conducted. From February 2016 to April 2019, a total of 21 patients (21 fingers) with finger tip or finger pulp wounds of the thumbs met the inclusion criteria and were admitted to the Second Hospital of Tangshan, including 13 males and 8 females, aged 21 to 65 years, with the defects located at the finger tips of 14 patients and the finger pulps of 7 patients, and all having exposed bones and/or tendons. The wound sizes of patients in this group after debridement ranged from 2.0 cm×1.5 cm to 4.0 cm×2.7 cm. All the wounds were repaired with the neurocutaneous vascular flap innervated by terminal branch of lateral antebrachial cutaneous nerve, with the flap sizes ranging from 2.3 cm×1.8 cm to 4.3 cm×3.0 cm. In surgery, the terminal branch of lateral antebrachial cutaneous nerve carried by the flaps was anastomosed with the end of the proper digital nerve of the wounds. The donor sites of flaps were sutured directly. The survival of flaps and healing of wounds in donor sites after operation were observed. The appearance of flaps and donor sites were observed during follow-up. At the final follow-up, the static two-point discrimination distances of the flaps were measured, and the degree of satisfaction of patients for the appearances of injured hands were evaluated based on Michigan Hand Function Questionnaire. The total action motion (TAM) of the injured and contralateral thumbs and the angle of thumb web of the injured and contralateral hands were measured. Data were statistically analyzed with paired sample t test. Results: All the flaps of the 21 patients survived with good blood supply and no infection. The wounds at the donor sites were all healed. All the patients were followed up, with the time ranging from 8 to 22 months. The appearances of flaps were good with their color and texture similar to the surrounding tissue. There was no pain in the finger tip or finger pulp, nor any ectopic sensation in flaps. There was only some linear scar left at the radial side of thumb. At the final follow-up, the static two-point discrimination distances of the flaps of the patients were 6 to 11 mm; 18 patients were very satisfied and 3 patients were satisfied with the overall appearance of the injured hand. The TAM of injured thumbs and the angle of thumb web of the injured hands of the patients were respectively (140±5)º and (94±9)°, which were similar to (141±5)º of the thumbs and (95±9)° of hands in the contralateral side, respectively (t=-2.024, -1.142, P>0.05). Conclusions: The neurocutaneous vascular flap innervated by terminal branch of lateral antebrachial cutaneous nerve has constant anatomy and is easy to perform. It can repair the finger tip or finger pulp wounds of the thumb achieving good appearance and function recovery. It provides a good option for repair of finger tip or finger pulp wounds of the thumb and is especially suitable for emergency application.

[Clinical effects of ulnar artery perforator chain flaps in repairing wounds on distal forearm or wrist with vascular anastomosis].

Objective: To investigate the clinical effects of ulnar artery perforator chain flaps in repairing wounds on distal forearm or wrist with vascular anastomosis. Methods: The retrospective observational study method was used. From March 2015 to July 2019, a total of 11 serious trauma patients on distal forearm or wrist with vascular injury were admitted to the Second Hospital of Tangshan, including 8 male patients and 3 female patients, aged from 25 to 62 years, with an average age of 45 years. Vascular anastomosis and tendon repair were performed in all patients, and fracture reduction and fixation were conducted in 9 patients, of which 8 patients underwent external fixation of radius. The residual wounds were located in palmar distal forearm in 5 patients, palmar wrist in 4 patients, dorsal distal forearm in 1 patient, and dorsal wrist in 1 patient, with wound sizes ranged from 4.5 cm×3.0 cm to 10.0 cm×6.0 cm after the last debridement. The wounds were repaired with ulnar artery perforator chain flaps, with the flap sizes ranged from 5.2 cm×3.5 cm to 11.0 cm×7.0 cm. The wound in flap donor site of 1 patient was sutured directly, the wounds in flap donor sites of the other 10 patients were repaired with free skin grafts from ipsilateral thigh after being sutured partially, and the sizes of free skin grafts ranged from 4.0 cm×2.0 cm to 8.5 cm×5.0 cm. The survivals of flaps, skin grafts, and injured limbs after operation were observed. The appearances of the flaps and donor sites of flaps were observed during follow-up. At the final follow-up, the static two-point discrimination distances of the flaps were measured, and the satisfaction degrees of patients for the appearances of injured limbs were evaluated based on Michigan Hand Function Questionnaire. Results: All flaps, skin grafts, and injured limbs survived after operation, without wound infection and blister formation. All patients were followed up for 8 to 26 months, the appearances of the flaps were good and not bloated, with similar color, texture, and thickness to the surrounding skin. The donor sites of flaps repaired with skin grafts were smooth, with circle scar at the edges. At the final follow-up, the static two-point discrimination distances of the flaps was 10-15 mm; 7 patients were strongly satisfied with the appearances of the injured limbs, and the remaining 4 patients were satisfied with the appearances of flaps. Conclusions: The ulnar artery perforator chain flap has constant vascular anatomy and reliable blood supply, with simple operation, which provides a good treatment method for repairing wounds on distal forearm or wrist with vascular anastomosis. It is especially suitable for the patients with radius fracture fixed by external fixator.

[Effects of three kinds of proximal pedicled flaps of hand for relaying repair of degloving injuries of fingertips and the soft tissue defects in the donor sites].

Objective: To investigate the effects of the dorsal branch of digital artery pedicled flap combined with V-Y advancement flap for repair of degloving injury of fingertip and reverse dorsal metacarpal recurrent artery pedicled island flap for relaying repair of the soft tissue defects in the donor sites of the proximal dorsum. Methods: A total of 21 patients with degloving injuries of fingertips at the 2nd to 5th fingers were hospitalized in the Department of Hand Surgery of the Second Hospital of Tangshan from June 2016 to January 2019, including 14 males and 7 females aged 24-60 years. The retrospective clinical follow-up study was conducted. The areas of wounds after debridement ranged from 2.0 cm×1.5 cm to 3.5 cm×2.2 cm. The dorsal branch of digital artery pedicled flaps with dorsal branch of the proper digital nerve and dorsal digital nerve were designed in the proximal dorsum of the affected fingers to repair dorsal wounds in the distal dorsum of the affected fingers, and the sizes of the flaps ranged from 1.6 cm×1.5 cm to 2.6 cm×2.4 cm. The V-Y advancement flaps in the palmar side of the affected fingers were designed to repair palmar wounds in the distal segment of the affected fingers, and the sizes of the flaps ranged from 0.8 cm×0.6 cm to 2.0 cm×1.5 cm. The reverse dorsal metacarpal recurrent artery pedicled island flaps were used to repair the soft tissue defects in the donor sites of proximal dorsum, the sizes of the flaps ranged from 1.8 cm×1.7 cm to 2.8 cm×2.6 cm, and the donor sites of the flaps in back of hand were sutured directly. The survivals after the operation and the blood supply and appearance during follow-up of the three flaps were observed. At the final follow-up, the static two-point discrimination distance of the three flaps was measured, the satisfaction degree of patients for the appearance of hand was evaluated based on Michigan Hand Function Questionnaire, and the total active range of motion of the injured finger joints was assessed by the trial standard for the evaluation of the functions of the upper limbs of the Hand Surgery Society of the Chinese Medical Association. Results: All the flaps survived after operation. Tension blisters appeared on the surface of one dorsal branch of digital artery pedicled flap, and the wound healed after removing the stitch at the pedicle and changing dressings. During follow-up of 6-20 months, with an average of 12 months, the three kinds of flaps had good appearance, soft texture, and similar color with surrounding tissue, and with only linear scars in donor sites of the dorsal hand. At the final follow-up, the static two-point discrimination distances of V-Y advancement flaps, dorsal branch of digital artery pedicled flaps, and reverse dorsal metacarpal recurrent artery pedicled island flaps were 4-7 mm, 5-10 mm, and 8-15 mm, respectively. Sixteen patients were strongly satisfied with the appearance of hand, and the remaining five patients were satisfied with the appearance of hand. The total active range of motion of the injured finger joints was evaluated as excellent in 17 cases, good in 4 cases. Conclusions: The operation is simple and reliable for dorsal branch of digital artery pedicled flap combined with V-Y advancement flap to repair the degloving injury of fingertip, and reverse dorsal metacarpal recurrent artery pedicled island flaps to repair the soft tissue defects in the donor sites of the proximal dorsum, and the appearance and function of the affected fingers recover well, with minimal injury.

[Epidemiological and molecular characteristics of human brucellosis in Qinghai province, 2005-2019].

Objective: To analyze the epidemiological and molecular characteristics of human brucellosis in Qinghai province from 2005 to 2019 and provide basic data for brucellosis prevention and control. Method: The data about human brucellosis in Qinghai from 2005 to 2019 were collected from the information system of China CDC to describe the spatial, population and time distributions of human brucellosis cases in Qinghai. The isolated strains were identified and typed with traditional methods, BCSP31-PCR, AMOS-PCR and multi-locus variablenumber tandem repeat (MLVA-16). Results: A total of 577 human brucellosis cases were reported in Qinghai from 2005 to 2019, the average prevalence rate was 0.07 per 100 000 person, there were statistic differences among different years. The disease occurred all the year around, but mainly during March-October. The 577 cases were distributed in 31 counties (cities/districts) from 6 autonomous prefectures (cities). The prevalence rats of five counties were high, i.e. Menyuan Hui autonomous county (22.88%, 132/577), Tianjun county (10.57%, 61/577)、Xining city (10.57%, 61/577), Henan Mongol Autonomous County (10.51%, 58/577) and Haiyan county (9.53%, 55/577). Age of the cases ranged from 8 years to 82 years, and the male to female ratio of the cases was 1.8∶1 (374/203). The prevalence rate in herdsman (47.83%, 276/577) was highest among different occupational populations. Ten isolates were all Brucella melitensis strains, belonging to biovar 3, and clustering analysis indicated that the 10 strains had 5 genotypes, in which 2 were distinct, the remaining 3 were same. MLVA-16 analysis indicated that the 10 strains had close relationship with 26 B. melitensis strains isolated in Qinghai previously. Conclusions: The prevalence of brucellosis increased in Qinghai in recent years, we should strengthen the population based brucellosis surveillance and reporting. MLVA-16 indicated the gene diversity of the Brucella strains, suggesting that MLVA-16 can be used for genetic diversity analysis and molecular epidemiology survey to improve brucellosis surveillance.

[Effect of venous anastomosis of the pedicled digital artery dorsal branch island flap in repairing fingertip or pulp defects of the same finger].

Objective: To explore the effect of venous anastomosis of the pedicled digital artery dorsal branch island flap in repairing fingertip or pulp defects of the same finger. Methods: From February 2016 to September 2018, a total of 56 emergency cases (67 fingers) with fingertip or pulp defects in 2-5 fingers were admitted to the Second Hospital of Tangshan (hereinafter referred to as the author's affiliation), and the prospective research was conducted. The patients were divided into venous anastomosis group of 29 cases (35 fingers) and non-venous anastomosis group of 27 cases (32 fingers) by drawing lots. There were 18 males and 11 females in venous anastomosis group, aged 17 to 62 years, with wound area of 1.6 cm×1.3 cm-3.1 cm×2.4 cm after debridement. There were 17 males and 10 females in non-venous anastomosis group, aged 20 to 59 years, with wound area of 1.7 cm×1.2 cm-3.0 cm×2.4 cm after debridement. According to the location and size of the fingertip or pulp defect of patients in the two groups, the flap was designed on the dorsum of the middle or proximal phalanx of the injured finger. During the operation, the epineurium of dorsal branch of the proper digital nerve or the dorsal digital nerve carried by the flap was anastomosed end-to-end with the stump of proper digital nerve in the wound. One or two superficial vein (s) carried by the flap was/were interrupted end-to-end anastomosed with the superficial veins on the dorsum or palm of the wound surface in venous anastomosis group, and the venous anastomosis was not performed in non-venous anastomosis group. The flap size resected ranged from 1.8 cm×1.5 cm to 3.4 cm×2.6 cm in venous anastomosis group, and that ranged from 1.9 cm×1.4 cm to 3.3 cm×2.6 cm in non-venous anastomosis group. The donor site wounds in the two groups were resurfaced by free full-thickness skin graft harvested from the proximal forearm or the medial side of the upper arm. The blood circulation of the flap of patients in 2 groups was observed after operation. During follow-up after operation, the patients' satisfaction for the appearance of the flap was evaluated by Michigan Hand Function Questionnaire, the flap color was observed by the chief physician of the Department of Hand Surgery in the author's affiliation, and the incidence of flap pigmentation was calculated. Data were statistically analyzed with t test and chi-square test. Results: All the flaps of patients survived without tension blister in venous anastomosis group after operation. Tension blisters occurred in 6 cases (6 fingers) in non-venous anastomosis group due to venous reflux obstruction, and the flaps survived after removing some sutures of the pedicle and changing dressing. During follow-up of 8-20 months, with an average of 15 months, the patients' satisfaction score for flap appearance in venous anastomosis group was (4.6±0.5) points, which was obviously higher than (4.3±0.6) points of non-venous anastomosis group (t=2.482, P<0.05). The incidence of flap pigmentation in venous anastomosis group was 9% (3/35), which was significantly lower than 31% (10/32) of non-venous anastomosis group (χ(2)=5.498, P<0.05). Conclusions: The pedicled digital artery dorsal branch island flap with venous anastomosis repairs the same fingertip or pulp defects, resulting in unobstructed venous reflux, low incidence of flap pigmentation, good appearance and high patient satisfaction.

MiR-133b inhibits MPP+-induced apoptosis in Parkinson's disease model by inhibiting the ERK1/2 signaling pathway.

OBJECTIVE: The aim of this study was to explore the effect of micro ribonucleic acid (miR)-133b on 1-methyl-4-phenylpyridinium ion (MPP+)-induced apoptosis in the Parkinson's disease (PD) model. MATERIALS AND METHODS: PC12 cells were induced by different concentrations of MPP+ to establish the PD cell model. Subsequently, the survival rate of PC12 cells was detected using Cell Counting Kit-8 (CCK-8) assay. Quantitative Reverse Transcription-Polymerase Chain Reaction (qRT-PCR) was used to detect the expression of miR-133b in the PD model induced by different concentrations of MPP+. Next, PC12 cells were transfected with miR-133b mimic and miR-negative control (NC), and divided into MPP+ group, MPP+ + miR-NC group and MPP+ + miR-133b mimic group. Transfection efficiency was verified using qRT-PCR. The apoptosis of cells was detected using terminal deoxynucleotidyl transferase-mediated dUTP nick end labeling (TUNEL) assay. Moreover, the expressions of extracellular signal-regulated kinase 1/2 (ERK1/2) and phosphorylated (p)-ERK1/2 were determined using Western blotting. RESULTS: After MPP+ treatment, the survival rate of PC12 cells significantly declined (p<0.05). MPP+ exhibited toxicity against PC12 cells in a concentration-dependent manner. Meanwhile, cell survival rate decreased remarkably with the increase of MPP+ concentration (p<0.05). With increased concentration of MPP+, the expression of miR-133b in the PD cell model declined significantly (p<0.05). The apoptosis of PC12 cells was remarkably inhibited by overexpression of miR-133b in the PD cell model (p<0.05). In addition, the protein expression of p-ERK1/2 in PC12 cells was notably reduced after overexpression of miR-133b in the PD cell model (p<0.05). CONCLUSIONS: MiR-133b is lowly expressed in the PD cell model. Furthermore, overexpression of miR-133b inhibits cell apoptosis in the PD cell model by regulating the ERK1/2 signaling pathway.

MiR-325-3p promotes locomotor function recovery in rats with spinal cord injury via inhibiting the expression of neutrophil elastase.

OBJECTIVE: This study aims to investigate the potential function of miR-325-3p in vascular integrity and inflammatory response following spinal cord injury (SCI). MATERIALS AND METHODS: The protein levels of ANG-1, ANG-2, and caspase-3 in HUVECs incubated with 0, 100, 200, 400, and 800 ng/ml NE for 24 h were determined. The regulatory effect of overexpressed miR-325-3p on the protein levels of ANG-1 and ANG-2 was determined by Western blot. The SCI model in SD rats was established by spinal injury at T10. Subsequently, the relative levels of miR-325-3p, ANG-1, and ANG-2 were determined in SCI rats and controls. Furthermore, SCI rats were administrated with miR-325-3p mimics or negative control and the relative levels of miR-325-3p, ANG-1, and ANG-2 were examined as well. At day 14, the protein levels of iNOS and GFAP in SCI rats and those overexpressing miR-325-3p were detected. BBB (Basso, Beattie, and Bresnahan) locomotor rating scale was applied for evaluating the locomotor function recovery at day 1, 3, 7, 14, 21, and 28 following SCI. RESULTS: NE treatment in HUVECs downregulated ANG-1 and upregulated ANG-2 and caspase-3 in a dose-dependent manner. The overexpression of miR-325-3p upregulated NE-induced decreased the level of ANG-1 and downregulated NE-induced increased level of ANG-2. After the establishment of the SCI model in rats, the miR-325-3p level gradually decreased in SCI rats relative to controls in a time-dependent manner. ANG-1 level in SCI rats decreased to the lowest on the first day following SCI, and gradually increased at day 3, 5, and 7. ANG-2 level was firstly upregulated and achieved the peak on day 3, and then decreased at day 5 and 7. Moreover, SCI rats overexpressing miR-325-3p showed a higher level of ANG-1 and lower level of ANG-2 than those of SCI rats. Overexpression of miR-325-3p downregulated the protein levels of iNOS and GFAP in SCI rats. BBB scale showed elevated locomotor function recovery in SCI rats overexpressing miR-325-3p compared with SCI rats. CONCLUSIONS: MiR-325-3p protects the integrity of the vascular wall, reduces infiltration of inflammation, and improves locomotor function recovery at post-SCI.

[Study on mosaicism of SCN1A gene mutation in parents of children with Dravet syndrome].

Objective: To investigate the clinical phenotypes and the mutant allele proportion of parents with SCN1A gene mutation mosaicism of Dravet syndrome (DS) children, thus to provide guidance for family reproduction and prenatal diagnosis. Method: The clinical data and peripheral blood DNA samples of DS patients with a SCN1A gene mutation proved by Sanger sequencing were collected prospectively from February 2005 to November 2016 in Department of Pediatrics, Peking University First Hospital. The same mutation was searched in parents and other available relatives. Parental somatic mosaicism was confirmed and quantified by Ion Torrent Personal Genome Machine (PGM) and Raindrop droplet digital PCR (ddPCR). The families were followed up and prenatal diagnosis was provided. Result: Mosaicisms of SCN1A gene mutation in parents were identified in 5.2% (30 out of 575) DS families. Seventeen were fathers and thirteen were mothers. The mutant allele proportion ranged from 1.7% to 32.9% by PGM and from 0.82% to 34.51% by ddPCR, respectively. In 30 parents with somatic mosaicism, thirteen were asymptomatic, ten had a history of febrile seizures (FS), five with epilepsy, one with febrile seizure plus and one had a history of afebrile seizure. Four families had two children with DS. Three siblings of the probands were confirmed genetically with the same pathogenic mutation. One deceased sister of the proband was assumed to have the same pathogenic mutation because she matched DS diagnosis after medical history review despite no blood sample. Two families received prenatal diagnosis. One second pregnancy was terminated because the fetus inherited the mutation as the mother's wish. Conclusion: Sanger sequencing detects parents of some children with DS are SCN1A mutation mosaics. PGM and ddPCR can be used for accurate quantification of mutant mosaics, which can provide accurate guidance for family genetic counseling.

[Effect of continuous femoral nerve block combined with periarticular local infiltration analgesia on early operative functional recovery after total knee arthroplasty: a randomized double-blind controlled study].

OBJECTIVE: To investigate the effects of early rehabilitation training after total knee arthroplasty surgery by continuous femoral nerve block (CFNB) with or without periarticular local infiltration analgesia (PLIA). METHODS: In this randomized, double-blind, controlled study, 100 patients under-going primary unilateral total knee arthroplasty in patients with knee osteoarthritis were enrolled. All the patients received CFNB for postoperative analgesia before combined spinal epidural anesthesia. They were randomly divided into 2 groups (n=50 each): CFNB group, CFNB combined with PLIA group (PLIA group). Group PLIA received periarticular local infiltration analgesia with 20 mL ropivacaine (5 g/L), while the equal volume of normal saline was used instead of ropivacaine in group CFNB. Postoperative pain during rest and passive exercises including front and rear portions of knees, the time of ability to perform an active straight leg raise, the time of ability to reach 90° knee flexion, and preoperative and postoperative hospital for special surgery knee score (HSS) were evaluated. RESULTS: Compared with group CFNB, the visual analogue scores (VAS) of front of knees at rest time in group PLIA had no significant difference (P>0.05); there were significant differences at 4, 8, 12, 24 h postoperation in portions of knees at rest time (P<0.05); the VAS had significant differences at 24 h in passive exercises of knees (P<0.05); the VAS had significant differences at 12, 24 h in portions of knees at passive exercises of the knees (P<0.05); the time of ability to perform an active straight leg raise had significant differences in the two groups (P<0.05). CONCLUSION: Compared with CFNB postoperative analgesia alone, CFNB with PLIA could relieve rest pain and pain during passive movement after total knee arthroplasty. CFNB with PLIA could shorten the time to perform an active straight leg raise and the time of ability to reach 90° knee flexion. And so some patients could improve postoperative rehabilitation training.