Objective:To analyze the efficacy of enzyme replacement therapy and anti-drug antibody production in children with Fabry disease.Methods:The clinical data of 7 children with Fabry disease treated with enzyme replacement therapy for more than 1 year at Children′s Hospital of Zhejiang University School of Medicine from July 2021 to June 2024 were retrospectively analyzed. The basic information and the changes of related clinical indicators before and after treatment were collected. Paired sample t test was used to compare renal function, left heart mass index, pain score and other related indexes before and after treatment. The anti-drug antibodies were detected by enzyme-linked immunosorbent assay. Results:A total of 6 boys and 1 girl were included. The age of diagnosis was (12.2±1.8) years. After 1 year of enzyme replacement therapy, the abnormal substrate globotriaosylsphingosine and brief pain inventory scores of all children were significantly lower than those before treatment ((16±11) vs. (63±42) μg/L, 22±19 vs. 45±29, t=3.88, 3.43, both P<0.05). There were no significant differences in glomerular filtration rate, urinary microalbumin to creatinine and left heart mass index before and after treatment ((124±35) vs. (136±26) ml/(min·1.73 m 2), (9.3±8.3) vs. (3.8±2.5) mg/g, (38±9) vs. (33±6) g/m 2.7, t=1.33, 1.74, 1.19, all P>0.05). Patients 4, 5 and 6 developed anti-drug antibodies at 1 month, 4 months and 1 month after medication, respectively. Patient 4 had persistently high anti-drug antibody titers (absorbance 3.65-3.73) accompanied by urticaria, elevated globotriaosylsphingosine and worsening clinical symptoms. Conclusions:The enzyme replacement therapy can effectively improve the clinical symptoms and reduce the level of globotriaosylsphingosine in children with Fabry disease. The anti-drug antibody is common in patients after long-term enzyme replacement therapy and may diminish the efficacy, which needs dynamic monitoring.

The aim of this study was to investigate the trend in testicular volume changes after orchiopexy in children with cryptorchidism. The clinical data of 854 children with cryptorchidism who underwent orchiopexy between January 2013 and December 2016 in Shenzhen Children's Hospital (Shenzhen, China) were retrospectively analyzed. The mean (standard deviation) age of the patients was 2.8 (2.5) years, and the duration of follow-up ranged from 1 year to 5 years. Ultrasonography was conducted preoperatively and postoperatively. The variables analyzed included age at the time of surgery, type of surgical procedure, laterality, preoperative testicular position, preoperative and postoperative testicular volumes, and the testicular volume ratio of them. The average testicular volumes preoperatively and at 1 year, 2 years, 3 years, and 5 years postoperatively were 0.27 ml, 0.38 ml, 0.53 ml, 0.87 ml, and 1.00 ml, respectively ( P < 0.001). The corresponding testicular volume ratios were 0.67, 0.76, 0.80, 0.83, and 0.84 ( P < 0.001). The mean volume of the undescended testes was significantly smaller than the mean normative value ( P < 0.001, lower than the 10 th percentile). The postoperative testicular volumes in children with cryptorchidism were generally lower than those in healthy boys but were still greater than the 10 th percentile and exhibited an increasing trend. The older the child is at the time of surgery, the larger the gap in volume between the affected and normal testes. Although testicular volume tends to gradually increase after orchiopexy for cryptorchidism, it could not normalizes. Earlier surgery results in affected testicular volumes closer to those of healthy boys.
Humans ; Male ; Cryptorchidism/diagnostic imaging* ; Orchiopexy ; Child, Preschool ; Testis/surgery* ; Retrospective Studies ; Organ Size ; Ultrasonography ; Infant ; Child ; Postoperative Period ; Follow-Up Studies

AIM To investigate the effects of Wenyang Jiedu Tongluo Recipe(WYJDTLR)on macrophage recruitment and polarization function in a mouse model of diabetic kidney disease(DKD).METHODS 50 db/db mice were randomly divided into the model group,the valsartan group(10.29 mg/kg)and the high-dose,medium-dose and low-dose WYJDTLR groups(26.52,13.26 and 6.63 g/kg),with 10 mice in each group,in contrast to another 10 db/m mice of the blank group.After 8 weeks of administration,the mice had their levels of fasting blood glucose,24-hour urinary protein quantity(24h-UTP),serum creatinine(Scr)and blood urea nitrogen(BUN)observed;their morphological changes of renal tissues observed by HE staining;their degree of renal glycogen deposition observed by PAS staining;their degree of renal fibrosis observed by Masson staining;their levels of MCP-1 and MCF-1 in serum and TNF-α and IL-1 β in renal tissue detected by ELISA;their renal protein expressions of VCAM-1 and ICAM-1 detected by IHC and Western blot;and their renal expressions of CD86 and CD206 detected by IF.RESULTS Compared with the model group,the WYJDTLR groups displayed decreased levels of fasting blood glucose,24h-UTP,Scr and BUN(P＜0.05,P＜0.01);improved degree of glomerular hypertrophy,mild proliferation of mesangial cells,dilatation of renal tubular,vacuolar degeneration of renal tubular epithelial cells,deposition of glomerular glycogen,and fibrosis of renal tissues(P＜0.01);decreased levels of MCP-1 and MCF-1 in serum and TNF-α and IL-1β in renal tissue(P＜0.05,P＜0.01);decreased renal protein expressions of VCAM-1 and ICAM-1(P＜0.05,P＜0.01),thus reduced the recruitment of macrophages to the kidney;decreased renal CD86 protein expression(P＜0.01);and increased CD206 protein expression(P＜0.01),thus inhibited M1-type polarization of macrophages and promoted M2-type polarization of macrophages.CONCLUSION WYJDTLR can delay the DKD progression in mice by reducing the occurrence of inflammatory reactions through reducing the level of macrophage recruitment factor,inhibiting the M1-type polarization,and promoting the M2-type polarization.

Objective Observe the tongue and pulse characteristics of PCOS patients with phlegm-damp syndrome,explore a model for identifying PCOS patients with phlegm-damp syndrome,and provide certain objective tongue and pulse diagnostic indicators with TCM characteristics for clinical treatment.Methods A total of 172 medics were recruited from the Affiliated Shuguang Hospital of Shanghai University of Traditional Chinese Medicine,the Shanghai Hospital of Traditional Chinese Medicine,and Shanghai University of Traditional Chinese Medicine.Including PCOS group(including 68 cases with phlegm-damp syndrome and 38 cases without phlegm-damp syndrome),postmenstrual period group(35 with phlegm-damp syndrome),and normal control group with phlegm-damp syndrome(31).The Smart TCM-Ⅰ type of TCM physiological information analysis system was used to collect tongue image information(including parameters of tongue color and tongue coating)and pulse image information(including amplitude and time domain parameters of pulse wave).Results Comparison of tongue parameters showed that compared to the menstrual late phase group with phlegm-damp syndrome,the PCOS group with phlegm-damp syndrome showed significantly higher levels of TC H,TC TIP G,TC TIP B,and TC TIP H,but lower TC TIP S;Compared to the control group with phlegm-damp syndrome,the PCOS group with phlegm-damp syndrome exhibited significantly lower levels of TC ROOT R,TC ROOT V,CC R,CC G,CC B,CC V,CC MID R and CC MID V;Compared to the control group with phlegm-damp syndrome,the menstrual late phase group with phlegm-damps syndrome showed significantly lower levels of TC H,TC R,TC B,TC G,TC V,TC MID H,TC TIP G,TC TIP B,CC R,CC H,CC V,and CC MID H,but higher TC TIP S.The above differences were all significant(P<0.05).Comparison of pulse wave parameters showed that compared with the normal group,the PCOS group showed increased values in H4/H1 L、T4/T L、W1/T L、H2/H1 R、H4/H1 R、W1/T R、H2/H1 L,and T1/T L,while T5/T4 L was decreased;In the menstrual late-phase group,H4/H1 L、H5/H1 L、W1/T L、W1/T R、H2/H1 L、T1/T L、T4/T L、T1/T4 L、H2/H1 R,and H4/H1 R were higher,whereas T5/T4 L were lower.The above differences were all statistically significant(P<0.05).The nomogram diagnostic model for phlegm-damp syndrome of PCOS was established by combining tongue and pulse diagnosis parameters.And the model had a certain reliability.Conclusion The certain objective parameters of tongue and pulse diagnosis can help predict to a certain extent the phlegm-damp syndrome of PCOS,postmenstrual period,and normal control group with phlegm-damp syndrome and non-phlegm-dampness syndrome of PCOS.

Objective:To explore the diagnostic value of cardiac color Doppler ultrasonography for left ventricular hypertrophy(LVH)complicated left heart failure(LHF).Methods:A total of 117 LVH patients complicated LHF admitted in Ningde City Hospital Affiliated to Ningde Normal College between January 2019 and January 2023(heart failure group)and 100 healthy people(control group)who underwent general physical examination in our hospital simultaneously were selected for the study.Left ventricular ejection fraction(LVEF),left atrial diameter(LAD),left ventricular end-diastolic diameter(LVEDd),early diastolic peak flow velocity/late diastolic peak flow velocity(E/A)were measured by cardiac color Doppler ultrasound in two groups.Receiver operating charac-teristic(ROC)curve was used to analyze the diagnostic value of cardiac color Doppler ultrasound indexes for LVH complicated LHF.In addition,the 117 patients with LVH and LHF were divided into mild group(n=54)and moderate to severe group(n=63)according to cardiac function class.Spearman correlation analysis was used to an-alyze the associationof cardiac color ultrasound parameters with cardiac function class.Results:Compared with par-ticipants in control group,those in heart failure group had significant lower LVEF[(47.88±4.75)％ vs.(69.81±5.64)％],and significant higher LAD[(44.03±4.88)mm vs.(27.56±2.76)mm vs.],LVEDd[(55.68±5.04)mm vs.(42.19±1.38)mm],E/A[(13.04±3.58)vs.(6.60±1.67)](P＜0.001 all).ROC analysis indicated that the area under the curve(AUC)of the combination of various parameters of cardiac ultrasound for diagnosing LVH with LHF was significantly higher than those of the single tests(Combined detection:AUC=0.901,95％CI 0.853～0.937 vs LVEF:AUC=0.644,95％CI 0.577～0.708,LAD:AUC=0.703,95％CI 0.637～0.763,LVEDd:AUC=0.633,95％CI 0.565～0.697,E/A:AUC=0.748,95％CI 0.685～0.804,Z=7.062,5.764,7.292,4.864,P＜0.001 all).Compared with patients in mild group,those in moderate to severe group had signifi-cant lower LVEF[(45.67±3.37)％ vs.(50.47±4.86)％],and significant higher LAD[(46.31±4.42)mm vs.(41.36±3.98)mm],LVEDd[(60.09±1.75)mm vs.(50.53±1.41)mm]and E/A[(13.99±2.96)vs.(11.93±3.92)](P＜0.01 all).Spearman correlation analysis indicated that LVEF was negatively correlated with cardiac function class(r=-0.474),while LAD(r=0.511),LVEDd(r=0.863),E/A(r=0.269)were positively corre-lated with cardiac function class(P＜0.01 all).Conclusion:Cardiac color Doppler ultrasound could better diagnose LVH complicated LHF,and also could effectively predict the cardiac function of patients with LVH and LHF.

Objective:To explore the diagnostic value of cardiac color Doppler ultrasonography for left ventricular hypertrophy(LVH)complicated left heart failure(LHF).Methods:A total of 117 LVH patients complicated LHF admitted in Ningde City Hospital Affiliated to Ningde Normal College between January 2019 and January 2023(heart failure group)and 100 healthy people(control group)who underwent general physical examination in our hospital simultaneously were selected for the study.Left ventricular ejection fraction(LVEF),left atrial diameter(LAD),left ventricular end-diastolic diameter(LVEDd),early diastolic peak flow velocity/late diastolic peak flow velocity(E/A)were measured by cardiac color Doppler ultrasound in two groups.Receiver operating charac-teristic(ROC)curve was used to analyze the diagnostic value of cardiac color Doppler ultrasound indexes for LVH complicated LHF.In addition,the 117 patients with LVH and LHF were divided into mild group(n=54)and moderate to severe group(n=63)according to cardiac function class.Spearman correlation analysis was used to an-alyze the associationof cardiac color ultrasound parameters with cardiac function class.Results:Compared with par-ticipants in control group,those in heart failure group had significant lower LVEF[(47.88±4.75)％ vs.(69.81±5.64)％],and significant higher LAD[(44.03±4.88)mm vs.(27.56±2.76)mm vs.],LVEDd[(55.68±5.04)mm vs.(42.19±1.38)mm],E/A[(13.04±3.58)vs.(6.60±1.67)](P＜0.001 all).ROC analysis indicated that the area under the curve(AUC)of the combination of various parameters of cardiac ultrasound for diagnosing LVH with LHF was significantly higher than those of the single tests(Combined detection:AUC=0.901,95％CI 0.853～0.937 vs LVEF:AUC=0.644,95％CI 0.577～0.708,LAD:AUC=0.703,95％CI 0.637～0.763,LVEDd:AUC=0.633,95％CI 0.565～0.697,E/A:AUC=0.748,95％CI 0.685～0.804,Z=7.062,5.764,7.292,4.864,P＜0.001 all).Compared with patients in mild group,those in moderate to severe group had signifi-cant lower LVEF[(45.67±3.37)％ vs.(50.47±4.86)％],and significant higher LAD[(46.31±4.42)mm vs.(41.36±3.98)mm],LVEDd[(60.09±1.75)mm vs.(50.53±1.41)mm]and E/A[(13.99±2.96)vs.(11.93±3.92)](P＜0.01 all).Spearman correlation analysis indicated that LVEF was negatively correlated with cardiac function class(r=-0.474),while LAD(r=0.511),LVEDd(r=0.863),E/A(r=0.269)were positively corre-lated with cardiac function class(P＜0.01 all).Conclusion:Cardiac color Doppler ultrasound could better diagnose LVH complicated LHF,and also could effectively predict the cardiac function of patients with LVH and LHF.

Objective Observe the tongue and pulse characteristics of PCOS patients with phlegm-damp syndrome,explore a model for identifying PCOS patients with phlegm-damp syndrome,and provide certain objective tongue and pulse diagnostic indicators with TCM characteristics for clinical treatment.Methods A total of 172 medics were recruited from the Affiliated Shuguang Hospital of Shanghai University of Traditional Chinese Medicine,the Shanghai Hospital of Traditional Chinese Medicine,and Shanghai University of Traditional Chinese Medicine.Including PCOS group(including 68 cases with phlegm-damp syndrome and 38 cases without phlegm-damp syndrome),postmenstrual period group(35 with phlegm-damp syndrome),and normal control group with phlegm-damp syndrome(31).The Smart TCM-Ⅰ type of TCM physiological information analysis system was used to collect tongue image information(including parameters of tongue color and tongue coating)and pulse image information(including amplitude and time domain parameters of pulse wave).Results Comparison of tongue parameters showed that compared to the menstrual late phase group with phlegm-damp syndrome,the PCOS group with phlegm-damp syndrome showed significantly higher levels of TC H,TC TIP G,TC TIP B,and TC TIP H,but lower TC TIP S;Compared to the control group with phlegm-damp syndrome,the PCOS group with phlegm-damp syndrome exhibited significantly lower levels of TC ROOT R,TC ROOT V,CC R,CC G,CC B,CC V,CC MID R and CC MID V;Compared to the control group with phlegm-damp syndrome,the menstrual late phase group with phlegm-damps syndrome showed significantly lower levels of TC H,TC R,TC B,TC G,TC V,TC MID H,TC TIP G,TC TIP B,CC R,CC H,CC V,and CC MID H,but higher TC TIP S.The above differences were all significant(P<0.05).Comparison of pulse wave parameters showed that compared with the normal group,the PCOS group showed increased values in H4/H1 L、T4/T L、W1/T L、H2/H1 R、H4/H1 R、W1/T R、H2/H1 L,and T1/T L,while T5/T4 L was decreased;In the menstrual late-phase group,H4/H1 L、H5/H1 L、W1/T L、W1/T R、H2/H1 L、T1/T L、T4/T L、T1/T4 L、H2/H1 R,and H4/H1 R were higher,whereas T5/T4 L were lower.The above differences were all statistically significant(P<0.05).The nomogram diagnostic model for phlegm-damp syndrome of PCOS was established by combining tongue and pulse diagnosis parameters.And the model had a certain reliability.Conclusion The certain objective parameters of tongue and pulse diagnosis can help predict to a certain extent the phlegm-damp syndrome of PCOS,postmenstrual period,and normal control group with phlegm-damp syndrome and non-phlegm-dampness syndrome of PCOS.

AIM To investigate the effects of Wenyang Jiedu Tongluo Recipe(WYJDTLR)on macrophage recruitment and polarization function in a mouse model of diabetic kidney disease(DKD).METHODS 50 db/db mice were randomly divided into the model group,the valsartan group(10.29 mg/kg)and the high-dose,medium-dose and low-dose WYJDTLR groups(26.52,13.26 and 6.63 g/kg),with 10 mice in each group,in contrast to another 10 db/m mice of the blank group.After 8 weeks of administration,the mice had their levels of fasting blood glucose,24-hour urinary protein quantity(24h-UTP),serum creatinine(Scr)and blood urea nitrogen(BUN)observed;their morphological changes of renal tissues observed by HE staining;their degree of renal glycogen deposition observed by PAS staining;their degree of renal fibrosis observed by Masson staining;their levels of MCP-1 and MCF-1 in serum and TNF-α and IL-1 β in renal tissue detected by ELISA;their renal protein expressions of VCAM-1 and ICAM-1 detected by IHC and Western blot;and their renal expressions of CD86 and CD206 detected by IF.RESULTS Compared with the model group,the WYJDTLR groups displayed decreased levels of fasting blood glucose,24h-UTP,Scr and BUN(P＜0.05,P＜0.01);improved degree of glomerular hypertrophy,mild proliferation of mesangial cells,dilatation of renal tubular,vacuolar degeneration of renal tubular epithelial cells,deposition of glomerular glycogen,and fibrosis of renal tissues(P＜0.01);decreased levels of MCP-1 and MCF-1 in serum and TNF-α and IL-1β in renal tissue(P＜0.05,P＜0.01);decreased renal protein expressions of VCAM-1 and ICAM-1(P＜0.05,P＜0.01),thus reduced the recruitment of macrophages to the kidney;decreased renal CD86 protein expression(P＜0.01);and increased CD206 protein expression(P＜0.01),thus inhibited M1-type polarization of macrophages and promoted M2-type polarization of macrophages.CONCLUSION WYJDTLR can delay the DKD progression in mice by reducing the occurrence of inflammatory reactions through reducing the level of macrophage recruitment factor,inhibiting the M1-type polarization,and promoting the M2-type polarization.

Objective To investigate the clinical effect of modified suspension reduction method combined with percuta-neous vertebroplasty in the treatment of osteoporotic thoracolumbar compression fractures.Methods From February 2020 to October 2021,92 patients with thoracolumbar osteoporotic compression fracture were treated by percutaneous vertebroplasty.According to different treatment methods,they were divided into the observation group and the control group.The observation group was treated with modified suspension reduction and then percutaneous vertebroplasty,while the control group was treated with percutaneous vertebroplasty alone.The observation group(47 cases),including 20 males and 27 females,the age ranged from 59 to 76 years old with an average of(69.74±4.50)years old,fractured vertebral bodies:T10(2 cases),T11(7 cases),T12(19 cases),L1(14 cases),L2(5 cases);the control group(45 cases),including 21 males and 24 females,the age ranged from 61 to 78 years old with an average of(71.02±3.58)years old,fractured vertebral bodies:T10(3 cases),T11(8 cases),T12(17 cas-es),L1(12 cases),L2(5 cases);The leakage of bone cement were observed,the visual analogue scale(VAS),Oswestry lumbar dysfunction index(ODI),anterior vertebrae height(AVH),Cobb angle of kyphosis and the amount of bone cement injected before and after operation were recorded and compared between the two groups.Results All patients were followed up,ranged from 6 to1O with an average of(8.45±1.73)months.Two patients ocurred bone cement leakage in observation group and 3 pa-tients in control group.AVH of observation group increased(P＜0.05)and Cobb angle of injured vertebrae decreased(P＜0.05).Cobb angle of injured vertebrae and AVH of the control group were not significantly changed(P＞0.05).Cobb angle of injured vertebrae of the observation group was lower than that of control group(P＜0.05)and AVH was higher than that of the control group(P＜0.05).In the observation group,VAS before operation and 1 week,3 and 6 months after operation respective-ly were(7.32±1.05)scores,(3.56±1.18)scores,(1.83±0.67)scores,(1.27±0.34)scores,and ODI were(40.12±14.69)scores,(23.76±10.19)scores,(20.15±6.39)scores,(13.45±3.46)scores.In the control group,VAS before operation and 1 week,3 and 6 months after operation respectively were(7.11±5.26)scores,(3.82±0.68)scores,(1.94±0.88)scores,(1.36± 0.52)scores,and ODI were(41.38±10.23)scores,(25.13±14.22)scores,(20.61±5.82)scores,(14.55±5.27)scores.The scores of VAS and ODI after operation were lower than those before operation(P＜0.05),but there was no significant difference between the two groups(P＜0.05).Conclusion Modified suspension reduction method combined with PVP surgery for osteo-porotic thoracolumbar compression fractures has achieved good clinical results,which can effectively relieve lumbar back pain,restore vertebral height,correct kyphosis,improve lumbar function and patients'quality of life.

The pathogenesis of osteoarthritis (OA) is related to a variety of factors such as mechanical overload, metabolic dysfunction, aging, etc., and is a group of total joint diseases characterized by intra-articular chondrocyte apoptosis, cartilage fibrillations, synovial inflammation, and osteophyte formation. At present, the treatment methods for osteoarthritis include glucosamine, non-steroidal anti-inflammatory drugs, intra-articular injection of sodium hyaluronate, etc., which are difficult to take effect in a short period of time and require long-term treatment, so the patients struggle to adhere to doctor’s advice. Some methods can only provide temporary relief without chondrocyte protection, and some even increase the risk of cardiovascular disease and gastrointestinal disease. In the advanced stages of OA, patients often have to undergo joint replacement surgery due to pain and joint dysfunction. Mitochondrial dysfunction plays an important role in the development of OA. It is possible to improve mitochondrial biogenesis, quality control, autophagy balance, and oxidative stress levels, thereby exerting a protective effect on chondrocytes in OA. Therefore, compared to traditional treatments, improving mitochondrial function may be a potential treatment for OA. Here, we collected relevant literature on mitochondrial research in OA in recent years, summarized the potential pathogenic factors that affect the development of OA through mitochondrial pathways, and elaborated on relevant treatment methods, in order to provide new diagnostic and therapeutic ideas for the research field of osteoarthritis.