Duchenne muscular dystrophy (DMD) is an X-linked recessive genetic disorder caused by mutations in the dystrophin gene, classified as a rare congenital muscular disease. Its clinical features include progressive skeletal muscle weakness, often involving respiratory and cardiac muscles, and frequently associated with spinal deformities. This paper reports the diagnosis, perioperative management, and follow-up of a case of DMD with multisystem involvement and severe scoliosis, aiming to provide a reference for clinicians in the diagnosis and treatment of such diseases.

Objective:To investigate the long-term efficacy, safety and prognostic factors of intraoperative radiotherapy (IORT) for narrow-margin (resection margin < 1 cm) hepatectomy in patients with hepatocellular carcinoma (HCC) during radical surgery.Methods:A retrospective cohort study was conducted. The data of primary HCC patients undergoing radical surgery and narrow-margin hepatectomy IORT in the Cancer Hospital of the Chinese Academy of Medical Sciences from November 2009 to February 2019 were collected. IORT applied 6 MeV or 9 MeV electron beams and a single irradiation was given to the margin. Kaplan-Meier method was used for the overall survival (OS) and disease-free survival (DFS) analysis; log-rank test was used for survival comparison among subgroups. The recurrence patterns and adverse reactions were recorded. Univariate and multivariate Cox proportional hazards models were used to analyze the factors influencing the OS and DFS.Results:A total of 64 patients were enrolled, with the median age [ M ( Q1, Q3)] of 57 years (49, 63) years. All patients included 55 males (85.9%) and 9 females (14.1%). The median dose of IORT was 15 Gy (range: 12-17 Gy). The median follow-up time was 83.3 (64.4, 91.9) months. The 1-year, 3-year, 5-year, 7-year, 10-year OS rates were 90.4%, 80.6%, 75.5%, 71.4% and 47.6%, respectively; the 1-year, 3-year, 5-year, 7-year,10-year DFS rates were 77.8%, 68.1%, 59.6%, 57.6% and 38.4%, respectively. Univariate Cox regression analysis indicated that preoperative serum alpha-fetoprotein (AFP) > 400 ng/ml was an independent risk factor for poor OS (> 400 ng/ml vs. ≤ 400 ng/ml: HR = 6.57, 95% CI: 2.16-19.96, P < 0.001), while not the independent influencing factor of poor DFS ( HR = 1.71, 95% CI: 0.65-4.52, P = 0.277). The age ≤ 60 years or not, gender, viral hepatitis or not, American Joint Committee on Cancer stage, tumor diameter (> 5 cm or not), tumor number, degree of tumor differentiation, microvascular invasion or not, microsatellite nodules or not, anatomical liver resection or not, and the dose of IORT ≤15 Gy or not were not the independent influencing factors of poor OS and DFS (all P > 0.05). Kaplan-Meier method analysis showed that patients with preoperative serum AFP ≤ 400 ng/ml (48 cases) had better OS compared with those with preoperative serum AFP>400 ng/ml (16 cases) (5-year OS rate: 84.8% vs. 44.9%; 7-year OS rate: 79.9% vs.37.4%), and the difference was statistically significant ( P = 0.002). There was no statistically significant difference in the DFS between the 2 groups ( P = 0.134). During the follow-up, 28 patients (43.8%) relapsed, including 17 cases (26.6%) of early recurrence and 11 cases (17.2%) of late recurrence. No marginal recurrence was observed. There were 22 cases (34.4%) of intrahepatic recurrence alone, 2 cases (3.1%) of extrahepatic recurrence and 4 cases (6.3%) of stimutaneous recurrence inside and outside the liver. The 1-, 3-, 5- and 7-year cumulative recurrence rates inside the liver were 19.0%, 27.2%, 37.4% and 39.3% respectively, and the cumulative recurrence rates outside the liver were 6.4%, 8.0%, 9.6% and 9.6% respectively. There were no adverse reactions above grade 3 in the entire group. There were no surgery-related deaths within 30 d after the operation, and no radiation-induced liver disease occurred. Conclusions:Narrow-margin IORT helps HCC patients receiving hepatectomy to achieve favorable long-term survival and adverse reactions are tolerable. It can be used as a safe and effective adjuvant therapy alternative.

Objective:To investigate the long-term efficacy, safety and prognostic factors of intraoperative radiotherapy (IORT) for narrow-margin (resection margin < 1 cm) hepatectomy in patients with hepatocellular carcinoma (HCC) during radical surgery.Methods:A retrospective cohort study was conducted. The data of primary HCC patients undergoing radical surgery and narrow-margin hepatectomy IORT in the Cancer Hospital of the Chinese Academy of Medical Sciences from November 2009 to February 2019 were collected. IORT applied 6 MeV or 9 MeV electron beams and a single irradiation was given to the margin. Kaplan-Meier method was used for the overall survival (OS) and disease-free survival (DFS) analysis; log-rank test was used for survival comparison among subgroups. The recurrence patterns and adverse reactions were recorded. Univariate and multivariate Cox proportional hazards models were used to analyze the factors influencing the OS and DFS.Results:A total of 64 patients were enrolled, with the median age [ M ( Q1, Q3)] of 57 years (49, 63) years. All patients included 55 males (85.9%) and 9 females (14.1%). The median dose of IORT was 15 Gy (range: 12-17 Gy). The median follow-up time was 83.3 (64.4, 91.9) months. The 1-year, 3-year, 5-year, 7-year, 10-year OS rates were 90.4%, 80.6%, 75.5%, 71.4% and 47.6%, respectively; the 1-year, 3-year, 5-year, 7-year,10-year DFS rates were 77.8%, 68.1%, 59.6%, 57.6% and 38.4%, respectively. Univariate Cox regression analysis indicated that preoperative serum alpha-fetoprotein (AFP) > 400 ng/ml was an independent risk factor for poor OS (> 400 ng/ml vs. ≤ 400 ng/ml: HR = 6.57, 95% CI: 2.16-19.96, P < 0.001), while not the independent influencing factor of poor DFS ( HR = 1.71, 95% CI: 0.65-4.52, P = 0.277). The age ≤ 60 years or not, gender, viral hepatitis or not, American Joint Committee on Cancer stage, tumor diameter (> 5 cm or not), tumor number, degree of tumor differentiation, microvascular invasion or not, microsatellite nodules or not, anatomical liver resection or not, and the dose of IORT ≤15 Gy or not were not the independent influencing factors of poor OS and DFS (all P > 0.05). Kaplan-Meier method analysis showed that patients with preoperative serum AFP ≤ 400 ng/ml (48 cases) had better OS compared with those with preoperative serum AFP>400 ng/ml (16 cases) (5-year OS rate: 84.8% vs. 44.9%; 7-year OS rate: 79.9% vs.37.4%), and the difference was statistically significant ( P = 0.002). There was no statistically significant difference in the DFS between the 2 groups ( P = 0.134). During the follow-up, 28 patients (43.8%) relapsed, including 17 cases (26.6%) of early recurrence and 11 cases (17.2%) of late recurrence. No marginal recurrence was observed. There were 22 cases (34.4%) of intrahepatic recurrence alone, 2 cases (3.1%) of extrahepatic recurrence and 4 cases (6.3%) of stimutaneous recurrence inside and outside the liver. The 1-, 3-, 5- and 7-year cumulative recurrence rates inside the liver were 19.0%, 27.2%, 37.4% and 39.3% respectively, and the cumulative recurrence rates outside the liver were 6.4%, 8.0%, 9.6% and 9.6% respectively. There were no adverse reactions above grade 3 in the entire group. There were no surgery-related deaths within 30 d after the operation, and no radiation-induced liver disease occurred. Conclusions:Narrow-margin IORT helps HCC patients receiving hepatectomy to achieve favorable long-term survival and adverse reactions are tolerable. It can be used as a safe and effective adjuvant therapy alternative.

Objective To investigate the effect of postoperative reduction quality in femoral neck fracture internal fixation on mechanical properties of the femoral head from the perspective of trabecular bone biomechanics.Methods From patients who underwent hip replacement surgery for femoral neck fractures,a total of 26 femoral head slice specimens were obtained.The central axis of the primary compressive trabeculae was defined as the 0° group,with the intersection point of the primary compressive trabeculae and the femoral calcar serving as the center.By rotating the specimens to simulate different reduction angles,the cut femoral head slice specimens were randomly divided into five groups:-10°,-5°,0°,5°,and 10°,representing femoral heads with varying reduction qualities.The specimens were subjected to single compression load tests and fatigue load tests.The load was set from 70 N to 1 400 N,at a frequency of 1 Hz,with 10 000 cycles.Axial stiffness,displacement,and the number of collapse cycles were measured,to compare the biomechanical properties of femoral head specimens under different reduction qualities.Results There were differences in the axial stiffness,displacement,and number of collapse cycles among the femoral head specimens in different groups.Under 800 N load,the axial stiffness of 0° group was significantly greater than that of±10° groups(P＜0.05).The axial stiffness of 0° group was also greater than that of the±5° groups,but the differences were not statistically significant(P＞0.05).The axial stiffness of±5° groups was greater than that of±10° groups(P＜0.05).0° group had a lower displacement than±5° groups and±10° groups.However,the differences in displacement between 0° group and±5° groups were not statistically significant(P＞0.05),while the differences between the 0° group and±10° groups were statistically significant(P＜0.05).The differences in displacement between±5° groups and±10° groups were also statistically significant(P＜0.05).0° group had a significantly higher number of collapse cycles than±10° groups(P＜0.05).The number of collapse cycles in 0° group was also higher than that in±5° groups,but the differences were not statistically significant(P＞0.05).The number of collapse cycles in±5° groups was significantly higher than that±10° groups(P＜0.05).Conclusions The quality of reduction after internal fixation of femoral neck fractures significantly affects the biomechanical properties of the femoral head.This study provides a scientific basis for optimizing treatment and postoperative management,aiming to improve clinical outcomes and patients' quality of life.

Objective To investigate the effect of postoperative reduction quality in femoral neck fracture internal fixation on mechanical properties of the femoral head from the perspective of trabecular bone biomechanics.Methods From patients who underwent hip replacement surgery for femoral neck fractures,a total of 26 femoral head slice specimens were obtained.The central axis of the primary compressive trabeculae was defined as the 0° group,with the intersection point of the primary compressive trabeculae and the femoral calcar serving as the center.By rotating the specimens to simulate different reduction angles,the cut femoral head slice specimens were randomly divided into five groups:-10°,-5°,0°,5°,and 10°,representing femoral heads with varying reduction qualities.The specimens were subjected to single compression load tests and fatigue load tests.The load was set from 70 N to 1 400 N,at a frequency of 1 Hz,with 10 000 cycles.Axial stiffness,displacement,and the number of collapse cycles were measured,to compare the biomechanical properties of femoral head specimens under different reduction qualities.Results There were differences in the axial stiffness,displacement,and number of collapse cycles among the femoral head specimens in different groups.Under 800 N load,the axial stiffness of 0° group was significantly greater than that of±10° groups(P＜0.05).The axial stiffness of 0° group was also greater than that of the±5° groups,but the differences were not statistically significant(P＞0.05).The axial stiffness of±5° groups was greater than that of±10° groups(P＜0.05).0° group had a lower displacement than±5° groups and±10° groups.However,the differences in displacement between 0° group and±5° groups were not statistically significant(P＞0.05),while the differences between the 0° group and±10° groups were statistically significant(P＜0.05).The differences in displacement between±5° groups and±10° groups were also statistically significant(P＜0.05).0° group had a significantly higher number of collapse cycles than±10° groups(P＜0.05).The number of collapse cycles in 0° group was also higher than that in±5° groups,but the differences were not statistically significant(P＞0.05).The number of collapse cycles in±5° groups was significantly higher than that±10° groups(P＜0.05).Conclusions The quality of reduction after internal fixation of femoral neck fractures significantly affects the biomechanical properties of the femoral head.This study provides a scientific basis for optimizing treatment and postoperative management,aiming to improve clinical outcomes and patients' quality of life.

Objective:To evaluate the short-term rehabilitation effect of wearable visual training devices based on extended reality (XR) glasses in patients after macular hole surgery.Methods:A self-controlled study was conducted.Eleven patients with monocular low vision after macular hole surgery were recruited at Renmin Hospital of Wuhan University from October 2022 to March 2024.All patients underwent biofeedback training for 3 months using the independently developed visual rehabilitation training glasses LOOKBON T10.The LogMAR best corrected visual acuity (BCVA), retinal sensitivity, effective fixation rate, fixation stability, reading speed, vertical metamorphopsia (MV), horizontal metamorphopsia (MH), and Chinese version of the visual-related quality of life assessment form (CVRQoL-25) were compared before and after training.This study adhered to the Declaration of Helsinki.The study protocol was approved by the Ethics Committee of Renmin Hospital of Wuhan University (No.WDRY2024-K263).Written informed consent was obtained from each subject.Results:After training, the patients' BCVA, retinal sensitivity, effective fixation rate, fixation stability, and reading speed were 0.69±0.19, (21.61±2.75)db, (92.43±4.06)%, (93.09±4.31)%, and (104.82±21.85) characters/minute, respectively, which were significantly improved compared to 0.85±0.28, (17.71±3.17)db, (31.83±19.05)%, (32.35±19.12)%, and (69.64±20.17) characters/minute before training ( t=5.253, -5.987, -11.561, -12.003, -11.682; all at P<0.001).After training, MV and MH were (0.29±0.20)° and (0.21±0.24)°, respectively, which were significantly reduced compared to pre-training (0.44±0.24)° and (0.43±0.41)° ( t=9.238, 4.068; both at P<0.01).After training, the CVRQoL-25 score was 1 193.18±229.43, which was significantly higher than pre-training 947.73±203.86 ( t=-11.687, P<0.001). Conclusions:The application of wearable visual training equipment based on XR glasses can effectively improve the visual function of patients with poor visual function recovery after macular hole surgery, and enhance their quality of life.

Objective To investigate the correlation between amide proton transfer-weighted(APTw)value derived from APTw imaging and Ki-67 expression in hepatocellular carcinoma.Methods Sixty patients with hepatic occupations underwent preoperative upper abdominal MRI scanning,including APTw and diffusion weighted imaging(DWI)sequences.Thirty-two patients with hepatocellular carcinoma proved by pathological results were enrolled in the prospective study.The APTw and apparent diffusion coefficient(ADC)values of the lesions were measured from the corresponding APTw and ADC images,respectively.Mann-Whitney U test or independent sample t test was used to analyze the differences in APTw and ADC values between the high and low Ki-67 expression groups.Pearson correlation analysis was used to evaluate the correlation between APTw value,ADC value and Ki-67 expression level of hepatocellular carcinoma.The receiver operating characteristic(ROC)curve was used to evaluate the diagnostic efficacy of amide proton transfer(APT)parameter in differentiating high and low Ki-67 expression groups.Results The APTw values of high Ki-67 expression group(n=24)was higher than that of low Ki-67 expression group(n=8)[(1.33±0.77)％vs(0.64±0.58)％,P=0.026].There was no significant difference in ADC values between the two groups(0.82×10-3 mm2/s vs 0.86×10-3 mm2/s,P=0.679).The APTw values were positively correlated with Ki-67 expression(r=0.377,P=0.035),and the area under the curve(AUC)of APTw value＞1.24％for the diagnosis of high Ki-67 expression was 0.794,with a sensitivity of 67％and a specificity of 88％.Conclusion The APTw value of hepatocellular carcinoma is positively correlated with Ki-67 expression,which has certain diagnostic value for predicting the expression status of Ki-67.

Objective To investigate the value of extracellular volume fraction(ECV)based on CT for predicting macrotrabecular-massive hepatocellular carcinoma(MTM-HCC).Methods Data of 23 MTM-HCC(MTM-HCC group)and 56 non-MTM-HCC(nMTM-HCC group)patients were retrospectively analyzed,and CT manifestations were compared between groups.CT values of abdominal aorta(P-CTabdominal aorta,E-CTabdominal aorta),tumors(P-CTtumor,E-CTtumor)and non-tumor liver parenchyma(P-CTliver,E-CTliver)in plain phase(P)and enhancement equilibrium phase(E)CT were measured,then ECV of tumors and liver parenchyma were calculated,and ECV-related parameters were compared between groups.Receiver operating characteristic curves were drawn,and area under the curve(AUC)was calculated to evaluate the predictive efficacy of ECV-related parameters for predicting MTM-HCC.Results No significant difference of CT manifestations was found between groups(all P＞0.05).E-CTtumor,Δltumor(absolute enhancement CT value of the tumor area)and ECVtumor in MTM-HCC group were all lower than those in nMTM-HCC group(all P＜0.01).The AUC of E-CTtumor,Δtumor and ECVtumor for predicting MTM-HCC was 0.74,0.77 and 0.87,respectively,and the AUC of ECVtumor was higher than that of E-CTtumor and Δtumor(Z=2.271,2.557,P=0.023,0.011).Conclusion ECV based on CT could be used to effectively predict MTM-HCC.

Objective To compare the differences in kinematic parameters and plantar pressures for two types of knee varus with tibial and femoral origins in gait analysis, so as to provide biomechanical theoretical basis for different types of genu varus. Methods Twenty-six patients with unilateral knee osteoarthritis (KOA) varus genu were enrolled, with 13 from femoral and 13 from tibial sources. Using Noraxon MyoMotion three-dimensional (3D) motion capture system and Footscan plantar pressure test system, the gait of the subjects during natural walking was measured, the temporal and spatial parameters of the gait, the kinematics parameters of lower limb joints and plantar pressures were collected, to make comparative analysis between the two groups. Results The range of knee flexion and extension of tibial varus, the peak of hip abduction, the range of motion (ROM) of hip adduction and abduction and the peak of ankle pronation were larger than those of femoral lateral genu varus. The peak of knee flexion and hip adduction was smaller than that of femoral lateral genu varus. Compared with femoral varus, subjects with tibial varus had increased stress time and peak pressure on the plantar of the 4th and 5th metatarsals (P<0.05). In the 3rd metatarsal region, the impulse of healthy femoral limb was greater than that of healthy limb with tibial deformity. While in the medial calcaneal region, the impulse of healthy femoral limb was smaller (P<0.05). Conclusions There are some differences in kinematic parameters and plantar pressures between two different types of unilateral genu varus patients. The results of this study are helpful to understand the abnormal gait caused by genu varus, and provide reliable reference for postoperative rehabilitation and limb exercise for different types of genu varus.

Objective: To diagnose a large family of patients with hereditary angioedema, and to study its inheritance pattern and gene locus. Methods: A retrospective analysis was carried out from August 2021 to February 2022 in a proband (female, 48 years old) and 12 family members who underwent medical history collection and laboratory examinations in the Department of Otorhinolaryngology and Head and Neck Surgery, the Second Hospital of Shanxi Medical University. The clinical data of members and non-affected members [including 7 males and 5 females, aged 12-78 (median 24) years old], were drawn a family map while confirming the diagnosis. Whole exome sequencing technology was used to detect the genetic sequence of the proband and to verify its family members to map the genetic pedigree of the mutation. Results: The inheritance pattern of the family was autosomal dominant, and 8 members of the family were diagnosed with hereditary angioedema by laboratory examination, including 7 cases of type I and 1 case of type Ⅱ. Whole exome sequencing analysis was performed on 2 patients with 2 phenotypes, and it was found that they both carried the same pathogenic mutation locus, which was c.890-2A>G. The family members were verified by next-generation sequencing, and it was found that all members of the family who had a history of edema contained this mutation site, while the younger brother of the proband who had no history of edema did not have this mutation. Conclusion: Both type Ⅰ and type Ⅱ phenotypes are present in this hereditary angioedema family, and the mutation of SERPING1 gene c.890-2A>G causes the onset of each patient in this family.
Angioedemas, Hereditary/genetics* ; Asian People ; Female ; Humans ; Male ; Mutation ; Pedigree ; Retrospective Studies