The Ehlers-Danlos syndrome(EDS)is a rare inherent connective tissue disorder.The prev-alence of EDS in the population is estimated at one out of ten thousand to one out of a hundred thousand.The vascular EDS(vEDS)are rare among the subtypes but are the worst in prognosis.The article reports a case of vEDS admitted to the hospital.The patient was a young man complaining of a sudden onset of aphasia in right hemiparalysis and severe left abdominal pain for unknown reasons.The diagnosis was made after the genetic testing.The patient suffered from vEDS.Then,the multi-disciplinary team(MDT)made a treatment plan tailored to this young patient.The complexity in classification and delusive presentations of the EDS make the correct diagnosis very challenging.This article hopes to report this case and to share the experiences to the bet-ter understanding of this disease.

Objective:To investigate the efficacy of tibiofibular-based reconstruction technique with single femoral tunnel for Fanelli type C posterolateral complex (PLC) injury.Methods:A retrospective case series study was conducted to analyze the clinical data of 16 patients with Fanelli type C PLC injury admitted to Tianjin Hospital from July 2016 to July 2019, including 10 males and 6 females, aged 20-61 years [(36.5±13.9)years]. PLC reconstruction was performed by tibiofibular-based technique with single femoral tunnel using gracilis tendon and semi-tendinosus autografts. If the posterior and anterior cruciate ligaments (PCL/ACL) rupture were combined, arthroscopic single bundle reconstruction was performed simultaneously. If the posteromedial corner (PMC) injury was combined, PMC repair or reconstruction surgery was performed simultaneously. Operation time and intraoperative blood loss were recorded. When the bone needle and tunnel for PLC were drilled during the operation, the interference of the femoral tunnel through the cruciate ligament was observed under the arthroscope. Before and at 6 and 12 months after operation, the varus stability of the knee joint was evaluated with the difference of lateral joint space width of both knees and the International Knee Documentation Committee (IKDC) objective classification of varus stability of the knee joint; the external rotation stability was evaluated with the difference of external rotation angle of both knees and the IKDC objective classification of external rotation stability of the knee joint. Before, at 6 and 12 months after operation and at the last follow-up, IKDC 2000 subjective score and Lysholm score were compared. The occurrence of complications was observed.Results:All the patients were followed up for 12-36 months [24(15, 33)months]. The operation time was 100-220 minutes [175.0(111.3, 200.0)minutes], with intraoperative blood loss of 30-150 ml [(84.3±36.5)ml]. Intraoperative arthroscopy showed no interference of perforation between PLC and cruciate ligament femoral tunnel. The differences of lateral joint space width of both knees at 6 and 12 months after operation were 0.5(0.2, 1.4)mm and 0.6(0.2, 1.5)mm respectively, which were both significantly improved compared with 12.1(10.8, 12.6)mm before operation ( P<0.05), while there was no significant difference at 6 and 12 months after operation ( P>0.05). The IKDC objective classification of varus stability of the knee joint was grade A in 13 patients, grade B in two and grade C in one at 6 or 12 months after operation, and showed statistical difference from grade D in all the patients before operation ( P<0.01). At 6 and 12 months after operation, the difference of external rotation angle of both knees was -2.0(-3.2, 1.3)° and -1.4(-3.0, 1.7)° respectively, which were significantly improved compared with 16.8(13.9, 18.4)° before operation ( P<0.05), while there was no significant difference at 6 and 12 months after operation ( P>0.05). IKDC objective classification of external rotation stability of the knee joint was grade A in 14 patients, grade B in one and grade C in one at 6 or 12 months after operation, and showed statistical difference from grade C in 14 patients and grade D in 2 before operation ( P<0.01). At 6 and 12 months after operation and at the last follow-up, the IKDC 2000 subjective scores [(76.3±4.7)points, (80.3±4.4)points, (79.9±3.8)points respectively] and the Lysholm scores [(76.1±3.9)points, (81.1±4.3)points, (82.8±3.2)points respectively] were significantly improved compared with those before operation [(48.6±3.7)points and (52.6±2.4)points] ( P<0.05). The IKDC 2000 subjective scores and Lysholm scores were significantly improved at 12 months after operation and at the last follow-up than those at 6 months after operation ( P<0.05). There were no significant differences in the IKDC 2000 subjective scores and Lysholm scores at 12 months after operation and at the last follow-up ( P>0.05). There were no complications such as wound infection, vascular and nerve injury, joint stiffness or ectopic ossification. Conclusion:For Fanelli type C PLC injury, tibiofibular-based reconstruction technique with single femoral tunnel reduces the interference between the lateral femoral tunnels, significantly improves the varus and external rotation stability and the function of the knee joint, and has few complications and satisfactory short-term clinical efficacy.

Objective To evaluate the efficacy of MOOC combined with flipped classroom teaching in clinical train-ing of urology.Methods A total of 100 clinical medical students from Peking Union Medical College were randomly assigned to either an experimental group or a control group.The experimental group adopted the teaching mode of MOOC combined with flipped classroom,while the control group adopted classic teaching method.The two groups were compared in terms of their theoretical exam scores,case analysis skills and teaching satisfaction level.Results There were no significant difference in theoretical examination scores between experimental group and con-trol group(the mean value of scores are 45.12 and 44.50,respectively).However,the interview scores from ex-perimental group was significant higher than that of control group(the mean value of scores are 42.28 and 40.10,respectively,P＜0.001).The MOOC combined with flipped classroom mode significantly improved students'capacity building of clinical reasoning for diagnosis and communication skills.Students were more willing to continue receiving this teaching mode.Conclusions The integration of MOOC with the flipped classroom model sig-nificantly enhances the quality and efficacy of urology teaching.

Objective To evaluate the effect of medial meniscal posterior root tear(MMPRT)on tibi-al external rotation through the dial test and assess the effect of pull-out repair for MMPRT on patho-logical tibial rotation.Methods Totally 40 patients undergoing MMPRT repair using pull-out way be-tween January 2022 and January 2023 were studied retrospectively.The dial test at 30°/90° knee flex-ion was performed on the affected and healthy sides of the patients before and after surgery to assess the tibial external rotation.Results The mean age of the 40 patients was 56.4±7.5 years,with a mean body mass index(BMI)of 24.1±3.0.Among them,6 were male(34%)and 34 were female(85%).The median time from injury to surgery was 3.8±2.9 months.The preoperative tibial external rotation angles measured by the dial test at 30°and 90°knee flexion were 31.34±5.38°and 36.75°±6.62°respectively.Postoperatively,these angles decreased significantly to 24.24°±5.88°and 24.76°±5.47°,respectively(P=0.00).Moreover,significant differences were observed in the changes in tibial external rotation angles of the affected knee before and after surgery,7.10°(95%CI[6.01°,8.19°])at 30°flexion and 11.99°(95%CI[10.68°,13.29°])at 90°flexion.The gap in the tibial external rotation angle between the affected and unaffected sides were significant before surgery at 30°(8.33°,95%CI[7.32°,9.33°])and 90°(13.03°,95%CI[11.82°,14.23°])flexion but not after surgery at 30°(0.48°,95%CI[-0.25°,0.98°])and 90°(0.34°,95%CI[-0.02°,0.70°])flexion.Conclusion The dial test finds increased tibial external rotation in patients with MMPRT,and pull-out repair can correct this pathological tibial external rotation.Moreover,an increased tibial external rotation angle measured by the dial test at 30°and 90°can indicate MMPRT.Therefore,special attention should be given to inter-preting the results of the dial test in cases of MMPRT.

Objective:To improve the understanding of primary pulmonary lymphoepithelioma-like carcinoma (PPLELC).Methods:A retrospective case series study was conducted. The clinical data of 31 patients with PPLELC who were admitted to the First Affiliated Hospital of Guangxi Medical University from January 2012 to June 2023 were retrospectively analyzed, and their clinical features were summarized. The correlations of organ metastasis, tumor stage, serum tumor markers, lactate dehydrogenase, and albumin with survival time were analyzed.Results:Among the 31 patients, 13 (41.9%) were male and 18 (58.1%) were female, aged (50±9) years old, with no smoking history in 24 cases (77.4%). The common clinical manifestations were cough(24 cases, 77.4%) and sputum (19 cases, 61.3%), and 7 patients (22.6%) were detected by physical examination; 24 cases (77.4%) had elevated levels of serum tumor markers, and the rest of the 7 cases (22.6%) had normal levels of various tumor markers. All of the patients had a single lesion, with a predominance of the right middle lung (8 cases, 25.8%), and 23 cases (74.2%) had lymph node metastasis. Immunohistochemical detection showed that the positive rate of CK was 67.7% (21/31), and the positive rates of squamous cell carcinoma markers CK5/6, p63 and p40 were 90.3% (28/31), 80.6% (25/31) and 77.4% (24/31), respectively. The positive rate of EBER in situ hybridization detection was 85.2% (23/27). Genetic testing showed 6 cases had epidermal growth factor receptor (EGFR) mutation. The median survival time [ M ( Q1, Q3)] of the groups without lymph node metastasis and with lymph node metastasis was 33.0 months (7.3 months, 9.3 months) and 19.0 months (7.0 months, 27.0 months), and the difference was statistically significant ( P < 0.001). The median survival time of patients with stage Ⅰ-Ⅱ and with stage Ⅲ-Ⅳ was 20.0 months (12.5 months, 42.0 months) and 18.5 months (6.5 months, 38.5 months), and the difference was statistically significant ( P = 0.002). One stage Ⅰ A patient was treated with surgery alone and survived at 92 months of follow-up. Ten cases were treated with immunotherapy and had a good outcome. Conclusions:PPLELC is prevalent in non-smokers, the lesions are mostly in the right middle lung, and it is easily misdiagnosed as squamous cell carcinoma. The positive EBER in situ hybridization detection can help the diagnosis; lymph node metastasis is common. Tumor stage, lymph node metastasis and CYFRA21-1 level may be correlated with the survival of patients. The patients can benefit from immunotherapy, and anti-angiogenic therapy combined with chemotherapy is an optional treatment regimen.

Purpose: This study aims to evaluate the efficacy and safety of a new combination treatment of vinorelbine and pyrotinib in human epidermal growth factor receptor 2 (HER2)–positive metastatic breast cancer (MBC) and provide higher level evidence for clinical practice. Materials and Methods: This was a prospective, single-arm, phase 2 trial conducted at three institutions in China. Patients with HER2-positive MBC, who had previously been treated with trastuzumab plus a taxane or trastuzumab plus pertuzumab combined with a chemotherapeutic agent, were enrolled between March 2020 and December 2021. All patients received pyrotinib 400 mg orally once daily plus vinorelbine 25 mg/m2 intravenously or 60-80 mg/m2 orally on day 1 and day 8 of 21-day cycle. The primary endpoint was progression-free survival (PFS), and the secondary endpoints included the objective response rate (ORR), disease control rate (DCR), overall survival, and safety. Results: A total of 39 patients were enrolled. All patients had been pretreated with trastuzumab and 23.1% (n=9) of them had accepted trastuzumab plus pertuzumab. The median follow-up time was 16.3 months (95% confidence interval [CI], 5.3 to 27.2), and the median PFS was 6.4 months (95% CI, 4.0 to 8.8). The ORR was 43.6% (95% CI, 27.8% to 60.4%) and the DCR was 84.6% (95% CI, 69.5% to 94.1%). The median PFS of patients with versus without prior pertuzumab treatment was 4.6 and 8.3 months (p=0.017). The most common grade 3/4 adverse events were diarrhea (28.2%), neutrophil count decreased (15.4%), white blood cell count decreased (7.7%), vomiting (5.1%), and anemia (2.6%). Conclusion Pyrotinib plus vinorelbine showed promising efficacy and tolerable toxicity as second-line treatment in patients with HER2-positive MBC.

Arrhythmogenic cardiomyopathy (ACM), a fatal heart disease characterized by fibroadipocytic replacement of cardiac myocytes, accounts for 20% of sudden cardiac death and lacks effective treatment. It is often caused by mutations in desmosome proteins, with Desmoglein-2 (DSG2) mutations as a common etiology. However, the mechanism underlying the accumulation of fibrofatty in ACM remains unknown, which impedes the development of curative treatment. Here we investigated the fat accumulation and the underlying mechanism in a mouse model of ACM induced by cardiac-specific knockout of Dsg2 (CS-Dsg2 ^-/-). Heart failure and cardiac lipid accumulation were observed in CS-Dsg2 ^-/- mice. We demonstrated that these phenotypes were caused by decline of fatty acid (FA) β-oxidation resulted from impaired mammalian target of rapamycin (mTOR) signaling. Rapamycin worsened while overexpression of mTOR and 4EBP1 rescued the FA β-oxidation pathway in CS-Dsg2 ^-/- mice. Reactivation of PPARα by fenofibrate or AAV9-Pparα significantly alleviated the lipid accumulation and restored cardiac function. Our results suggest that impaired mTOR-4EBP1-PPARα-dependent FA β-oxidation contributes to myocardial lipid accumulation in ACM and PPARα may be a potential target for curative treatment of ACM.

OBJECTIVE: To summarize the clinical features, surgical methods, and prognosis of bucket-handle meniscal tears (BHMTs), and provide guidance for clinical treatment. METHODS: The clinical data of 91 BHMTs patients (91 knees), who met the selection criteria and were admitted between January 2015 and January 2021, was retrospectively analyzed. There were 68 males and 23 females. Age ranged from 16 to 58 years with an average of 34.4 years. The injury was caused by sports in 68 cases, traffic accident in 15 cases, and falls or sprains in 8 cases. There were 49 cases of left knee injury and 42 cases of right knee injury. The time from the onset of symptoms to the admission ranged from 1 day to 13 months (median, 18 days), including >1 month in 35 cases and ≤1 month in 56 cases. Medial BHMTs occurred in 52 cases and lateral BHMTs in 39 cases. There were 36 cases with ACL rupture and 12 cases with discoid meniscus. The knee extension was limited more than 10° in 55 cases. According to the condition of meniscus injury, the meniscus suture with Inside-out combined with All-inside techniques (54 cases) or meniscoplasty (37 cases) under arthroscopy were selected. ACL reconstruction was performed in all patients with ACL rupture with autogenous hamstring tendon. Postoperative complications were observed. International Knee Documentation Committee (IKDC) score, Lysholm score, and Tegner score were used to evaluate knee function, and clinical failure was recorded. RESULTS: Two patients developed intermuscular venous thrombosis, which improved after oral anticoagulant therapy. No vascular injury, postoperative infection, joint stiffness, or other complications occurred in all patients. All patients were followed up 24-95 months, with a median of 64 months. A total of 12 cases (13.19%) failed the operation and were re-operated or given oral anti-inflammatory analgesics and rehabilitation therapy. At last follow-up, IKDC score and Lysholm score of 91 patients significantly increased when compared with those before operation ( P<0.05), while Tegner score significantly decreased ( P<0.05). The above indexes of patients treated with meniscus suture and meniscoplasty were also significantly different from those before operation ( P<0.05). CONCLUSION BHMTs occurs mostly in young men and is one of the important reasons for the limitation of knee extension after trauma. Arthroscopic meniscus suture and meniscoplasty can obtain good effectiveness according to individual conditions of patients. But the latter can better preserve the shape and function of meniscus, and theoretically can obtain better long-term outcomes, which needs to be confirmed by further research with larger sample size.
Male ; Female ; Humans ; Adolescent ; Young Adult ; Adult ; Middle Aged ; Treatment Outcome ; Retrospective Studies ; Meniscus ; Knee Joint/surgery* ; Menisci, Tibial/surgery* ; Knee Injuries/diagnosis* ; Rupture ; Tibial Meniscus Injuries/surgery* ; Arthroscopy/methods* ; Anterior Cruciate Ligament Injuries/surgery*

Objective:To analyze the correlation between body mass index (BMI) and lung function in patients with bronchial asthma (asthma).Methods:This study was a retrospective study. A total of 828 patients with asthma were included from March 2013 to November 2022 in the first affiliated Hospital of Guangxi Medical University, including 292 males and 536 females, aged 21-82 years, with a median age of 47 years. According to BMI, these asthma patients were divided into high BMI group (BMI≥24 kg/m 2), normal BMI group (18.5 kg/m 2≤BMI<24 kg/m 2) and low BMI group (BMI<18.5 kg/m 2). Forced vital capacity (FVC), forced expiratory volume in first second (FEV 1), FEV 1/FVC, maximum mid-expiratory flow (MMEF), forced expiratory flow at 25%, 50% and 75% of FVC (FEF 25%, FEF 50%, FEF 75%), peak expiratory flow (PEF), absolute increases in measured values of FVC and FEV 1 and percentage increases in FVC%pred (“%pred” represents the percentage of related indicators to expected value) and FEV 1%pred after inhalation of bronchodilator (salbutamol) were measured by pulmonary function meter. The correlation between BMI and the above indexes was analyzed. Results:In the high BMI group, FEV 1%pred, MMEF, FEF 25%, FEF 50% and FEF 75% were significantly lower than those in the normal BMI group and the low BMI group (all P<0.05), FVC% pred was significantly lower than those in the normal BMI group( P<0.05), and the percentage increase of FEV 1%pred was significantly lower than those in low BMI group ( P<0.05). FVC% pred in the normal BMI group was significantly higher than that in the low BMI group ( P<0.05). In male patients, BMI was negatively correlated with the absolute increase of FEV 1 ( r=-0.148, P<0.05); In female patients, BMI was negatively correlated with FEV 1%, FEV 1/FVC, MMEF, FEF 25%, FEF 50%, FEF 75% and the percentage increase of FEV 1%pred ( r=-0.124, -0.127, -0.165, -0.138, -0.156, -0.162, -0.106, all P<0.05). Conclusion:There is a significant correlation between BMI and lung function in patients with asthma, and the lung function in patients with high BMI is relatively worse; and in female patients, the effect of BMI on lung function is more significant; the increase of BMI can lead to the decrease of lung function and airway reversibility, suggesting that attention should be paid to the management of BMI in asthma management.

Objective:To investigate the effect of medial open wedge high tibial osteotomy (HTO) on moderate and severe medial compartmental knee osteoarthritis.Methods:This study retrospectively reviewed patients treated with medial open wedge HTO between January 2017 and January 2019. All cases were followed up for more than 2 years. There were 28 patients with severe osteoarthritis, including 11 males and 17 females, aged 56.36±5.06 years. There were 32 patients with moderate osteoarthritis, including 12 males and 20 females, aged 54.16±6.3 years. Kellgren-Lawrence (K-L) grading, hip-knee-ankle angle (HKA), weight bearing line (WBL) ratio, joint line convergence angle (JLCA), medial joint space (MJS), posterior tibial slope (PTS), medial meniscus extrusion (MME) and medial meniscus extrusion ratio (MMER) were evaluated on radiographs before and 2 years after surgery. The International Cartilage Repair Society (ICRS) of the cartilage of medial femoral condyle (MFC) and medial tibial condyle (MTC) were evaluated under arthroscopy. The clinical outcomes were assessed by the Western Ontario and McMaster University (WOMAC) score, visual analogue scale (VAS) and the degree of medial collateral ligament (MCL) pseudo-relaxation. Predictors of MCL pseudo-relaxation were screened by binary logistic regression analysis.Results:K-L grading, HKA, WBL ratio and MJS improved in both groups after surgery, with no statistical significance between groups ( P>0.05). The postoperative JLCA was improved, whereas MME and MMER were not. And the severe group was higher than the moderate group before and after surgery ( P<0.05). Cartilage of MFC: in the severe group, 2 cases of ICRS 3 grade, 26 of 4 grade improved to 11 of 2 grade, 12 of 3 grade, 5 of 4 grade; in the moderate group, 12 cases of ICRS 2 grade, 18 of 3 grade, 2 of 4 grade improved to 30 of 2 grade, 2 of 3 grade. Cartilage of MTC: in the severe group, 2 cases of ICRS 3 grade, 26 of 4 grade improved to 17 of 2 grade, 8 of 3 grade, 3 of 4 grade; in the moderate group, 11 of 2 grade, 8 of 3 grade, 3 of 4 grade improved to 27 of 2 grade, 5 of 3 grade. The postoperative WOMAC score of the severe group improved from 50.71±8.07 to 3.86±1.84, while in the moderate group it improved from 44.09±6.63 to 3.34±2.24. The postoperative VAS score of the severe group decreased from 7.14±1.21 to 3.34±2.24, whereas it decreased from 6.38±1.24 to 0.44±0.62 in the moderate group ( P<0.05). There was no significant difference between the postoperative groups ( P>0.05). In the severe group, the degree of pseudo-relaxation of the MCL improved from preoperative 25 of I degree, 3 of II degree to postoperative 28 of 0 degree at the 0° position, and from 25 of I degree, 3 of II degree to 24 of 0 degree, 4 of I degree at 30° position ( P<0.05). In the moderate group, the degree of pseudo-relaxation of the MCL improved from preoperative 31 of 0 degree, 1 of I degree to postoperative 32 of 0 degree at the 0° position, and from 28 of 0 degree, 4 of I degree to 32 of 0 degree at the 30° position ( P<0.05). JLCA ( OR=0.08, 95% CI: 0.007, 0.948, P=0.045), MME ( OR=0.11, 95% CI: 0.100, 1.32, P=0.082) and MMER ( OR=0.66, 95% CI: 0.422, 1.030, P=0.067) were independent predictors of MCL pseudo-relaxation (the difference was statistically significant at P<0.10). Conclusion:Medial open wedge HTO has significant short-term clinical effect on the treatment of moderate and severe medial compartmental knee osteoarthritis, which can effectively relieve pain symptoms, improve joint function, and restore medial knee stability. Preoperative large JLCA, MME and MMER indicate pseudo-relaxation of the MCL.