[Clinical application of photobiomodulation in trauma repair and medical aesthetics].

In recent years, with the deepening of researches on the molecular biological mechanisms of photobiomodulation (PBM), PBM has gradually been applied in clinical practice, providing effective treatment methods and approaches for various diseases. Compared with traditional photothermal therapy, PBM has the characteristics of good therapeutic effect, almost no adverse reaction, and simple operation, and its clinical efficacy is becoming increasingly significant. This article provides a detailed explanation on the mechanism of PBM, its application characteristics and development trends in trauma repair and medical aesthetics, in order to provide a theoretical basis for the extensively clinical application of this therapy.

[Overexpression of tuftelin and KLF-5 and its clinicopathological features in hepatitis B virus-related hepatocellular carcinoma].

Objective: To analyze and evaluate the expressions and clinical value of tuftelin (TUFT1) and Krüppel-like factor 5 (KLF5) in hepatitis B virus (HBV)-related hepatocellular carcinoma (HCC) tissues. Method: KLF5 mRNA and TUFT1 mRNA transcriptional status in cancer and non-cancer groups were compared according to the Cancer Genome Atlas (TCGA) database. The differences and prognostic value between the groups were analyzed. Postoperative liver cancer and its paired pericancerous tissues, with the approval of the ethics committee, were collected to build tissue chips. The expression of KLF5 and TUFT1 and their intracellular localization were verified by immunohistochemistry. Tissue expression and clinicopathological characteristics were analyzed by immunoblotting. SPSS software was used to analyze the relationship between SPSS and patient prognosis. Results: The transcription level of TUFT1 or KLF5 mRNA was significantly higher in the HCC group than the non-cancer group (P < 0.001), according to TCGA data. Immunohistochemistry and Western blotting examination confirmed the overexpression of TUFT1 and KLF5 in human HCC tissues, which were mainly localized in the cytoplasm and cell membrane. The positivity rates of TUFT1 and KLF5 were 87.1% ( χ(2) = 18.563, P < 0.001) and 95.2% ( χ(2) = 96.435, P < 0.001) in HCC tissues, and both were significantly higher than those in the adjacent group. The expression intensity was higher in stage III-IV than stage I-II of the International Union Against Cancer standard (P < 0.01). The clinicopathological features showed that the abnormalities of the two were significantly related to HBV infection, tumor size, extrahepatic metastasis, TNM stage, and ascites. Univariate analysis was related to tumor size, HBV infection, and survival. Multivariate analysis was an independent prognostic factor for patients with HCC. Conclusion: TUFT1 and KLF5 may both be novel markers possessing clinical value in the diagnosis and prognosis of HBV-related HCC.

[Prospective randomized controlled trial on 2 940 nm fractional erbium laser combined with fractional micro-plasma radiofrequency in the treatment of facial atrophic acne scars].

Objective: To compare the efficacy and safety of 2 940 nm fractional erbium laser combined with fractional micro-plasma radiofrequency (FMR) therapy and 2 940 nm fractional erbium laser in the treatment of atrophic acne scars. Methods: A prospective randomized controlled research was conducted. A total of 100 atrophic acne scar patients (38 males and 62 females, aged 18-37 years) who were treated in the Scar Laser Clinic of the Department of Plastic and Reconstructive Surgery of Shanghai Ninth People's Hospital of Shanghai Jiao Tong University School of Medicine from March 2018 to March 2021 and conformed to the inclusion criteria were recruited. The patients were randomly divided into erbium laser+FMR group and erbium laser alone group, with 50 cases in each group. The facial acne scars of patients in erbium laser alone group were treated with 2 940 nm fractional erbium laser, while the facial acne scars of patients in erbium laser+FMR group were treated with erbium laser as above, besides, the scars of U and M types were treated with FMR, once every 3 months for a total of 3 times. Before the first treatment and 3 months after each treatment, the Echelle D'Assessment Clinique des Cicatrices D'Acne (ECCA) was used to score the scar. The occurrence of adverse reaction during the treatment process was observed and recorded, and the incidence was calculated. Three months after the last treatment, the 5-level classification method was used to evaluate the satisfaction of patients with the treatment effect, and the satisfaction rate was calculated. Data were statistically analyzed with independent sample t test and chi-square test. Results: A total of 89 patients completed the study, including 46 patients in erbium laser+FMR group (19 males and 27 females, aged (26±5) years) and 43 patients in erbium laser alone group (15 males and 28 females, aged (27±6) years). The ECCA scores before the first treatment and 3 months after the first treatment of patients were similar between the two groups (P>0.05). The ECCA scores of patients in erbium laser+FMR group at 3 months after the second and third treatment were 72±23 and 61±18, respectively, which were significantly lower than 85±26 and 76±25 in erbium laser alone group (with t values of -2.45 and -3.26, respectively, P<0.05). During the treatment process, the incidence of adverse reaction of patients in erbium laser+FMR group and erbium laser alone group were 23.91% (11/46) and 16.28% (7/43), respectively, and there was no statistically significant difference between the two groups (P>0.05). The satisfaction rate of patients in erbium laser+FMR group was 78.26% (36/46) at 3 months after the last treatment, which was significantly higher than 53.49% (23/43) in erbium laser alone group (χ2=6.10, P<0.05). Conclusions: The 2 940 nm fractional erbium laser combined with FMR is superior to 2 940 nm fractional erbium laser alone in the treatment of facial atrophic acne scars, achieving significantly higher efficacy without significantly increasing the incidence of adverse reaction, and patients are more satisfied with the efficacy. It can be used as a recommended therapy in clinical practice.

[Prevalence rate and risk factor analysis of nonalcoholic fatty liver disease in 115 female patients with schizophrenia].

Objective: To investigate the incidence rate and risk factors of nonalcoholic fatty liver disease (NAFLD) in patients with schizophrenia (SCZ). Methods: The incidence rate of NAFLD in 115 females with SCZ over 40 years of age with complete clinical data was analyzed with the consent of the Ethics Committee of Nantong Fourth People's Hospital. A physical examination report of healthy subjects (n = 95, female, age 40 years old or older) was taken as the control group. Natural language processing technology was used to extract relevant data from the patient's electronic medical record system. Body mass index, alanine aminotransferase, triglycerides, low-density lipoprotein, leptin, and adiponectin were used to establish a human NAFLD-related model. Logistic regression analysis was used to evaluate the psychiatric symptoms, and physiological and biochemical indexes for the predictive value of NAFLD in female patients with SCZ. Results: The prevalence of NAFLD was significantly higher in the SCZ group (55.7%, 64/115) than that in the control group (26.3%, 25/95) (χ (2) = 18.335, P < 0.001). The prediction model showed that age, alanine aminotransferase, triglycerides, low-density lipoprotein, leptin, adiponectin, and body mass index were significantly correlated with NAFLD in females with SCZ. In the natural language processing search language model, arousal intensity (movements: uncontrolled running behavior) and emotional apathy were strongly linked to female patients with SCZ with NAFLD. Age, alanine aminotransferase, triglycerides, low-density lipoprotein, leptin, and body mass index were risk factors for SCZ to develop NAFLD, and adiponectin levels and uncontrolled running behavior were protective factors. Conclusion: The incidence rate of NAFLD is high in middle-aged and elderly females with SCZ. Natural language processing can help to automatically identify the risk factors for SCZ combined with NAFLD and has predictive and auxiliary diagnostic value.

[Efficacy of CT-guided partial radiofrequency ablation of bilateral responsible cranial nerves in the treatment of Meige syndrome].

Objective: To evaluate the efficacy of CT-guided partial radiofrequency ablation of bilateral responsible cranial nerves in the treatment of Meige syndrome. Methods: The Clinical data of 56 patients with Meige syndrome in the Department of Pain Medicine, Affiliated Hospital of Jiaxing University from June 2019 to January 2023 were retrospectively analyzed [19 males and 37 females, aged 42-76 (58.6±8.3) years], including 51 cases of blepharospasm, 3 cases of oromandibular dystonia and 2 cases of blepharospasm concomitant with oromandibular dystonia. CT-guided partial radiofrequency ablation of bilateral responsible cranial nerves was performed on different types of Meige syndrome. And the efficacy and complications of the technique were observed. Results: Fifty-one patients with blepharospasm Meige syndrome underwent CT-guided radiofrequency of facial nerve through bilateral stylomastoid foramen punctures, the symptoms of blepharospasm disappeared completely, leaving bilateral mild and moderate facial paralysis symptoms. Three patients with oral-mandibular dystonia underwent CT-guided radiofrequency therapy by bilateral foramen ovale puncture of mandibular branches of trigeminal nerve, masticatory muscle spasm disappeared, the patients had no difficulty opening the mouth, and the skin numbness in bilateral mandibular nerve innervation area was left. Two cases of Meige syndrome with blepharospasm concomitant with oromandibular dystonia were treated by radiofrequency of facial nerve and mandibular branch of trigeminal nerve, and all symptoms disappeared. The patients were followed up for 1-44 months after the operation, and the symptoms of mild and moderate facial paralysis disappeared at (3.2±0.8) months after the operation, but the numbness did not disappear. Three patients with blepharospasm recurred at the 14, 18 and 22 months after the operation, respectively, while the rest cases did not recur. Conclusions: According to different types of Meige syndrome, CT-guided partial radiofrequency ablation of responsible cranial nerves can effectively treat the corresponding type of Meige syndrome. The complications are only mild and moderate facial paralysis which can be recovered, and/or skin numbness in the mandibular region.

A Variant in the IRF6 Promoter Associated with the Risk for Orofacial Clefting.

The single-nucleotide polymorphism (SNP) rs2235371 (IRF6 V274I) is associated with nonsyndromic cleft lip with or without cleft palate (NSCL/P) in Han Chinese and other populations but appears to be without a functional effect. To find the common etiologic variant or variants within the haplotype tagged by rs2235371, we carried out targeted sequencing of an interval containing IRF6 in 159 Han Chinese with NSCL/P. This study revealed that the SNP rs12403599, within the IRF6 promoter, is associated with all phenotypes of NSCL/P, especially nonsyndromic cleft lip (NSCLO) and a subphenotype of it, microform cleft lip (MCL). This association was replicated in 2 additional much larger cohorts of cases and controls from the Han Chinese. Conditional logistic analysis indicated that association of rs2235371 with NSCL/P was lost if rs12403599 was excluded. rs12403599 contributes the most risk to MCL: its G allele is responsible for 38.47% of the genetic contribution to MCL, and the odds ratios of G/C and G/G genotypes were 2.91 and 6.58, respectively, for MCL. To test if rs12403599 is functional, we carried out reporter assays in a fetal oral epithelium cells (GMSM-K). Unexpectedly, the risk allele G yielded higher promoter activity in GMSM-K. Consistent with the reporter studies, expression of IRF6 in lip tissues from NSCLO and MCL patients with the G/G phenotype was higher than in those from patients with the C/C phenotype. These results indicate that rs12403599 is tagging the risk haplotype for NSCL/P better than rs2235371 in Han Chinese and supports investigation of the mechanisms by which the allele of rs12403599 affects IRF6 expression and tests of this association in different populations.

[Pay attention to the clinical application of radiofrequency ablation in the treatment of neuropathic pain].

Neuropathic pain is the pain triggered or caused by primary damage and dysfunction of the nervous system. Its pathogenesis is complex, involving changes in ion channel function, abnormal action potential generation and expansion, and central and peripheral sensitization. Therefore, it has always been the most intractable problem in clinical pain diagnosis and treatment, and there are many kinds of treatment methods. In addition to various oral drugs, nerve block, pulsed radiofrequency, radiofrequency ablation, central nerve electrical stimulation, peripheral nerve electrical stimulation, intra-thecal infusion system, craniotomy nerve decompression or carding, the dorsal root entry zone disfigurement, etc. various methods have mixed efficacy. So far, radiofrequency ablation of peripheral nerves is still the most simple and effective means for the treatment of neuropathic pain. In this paper, the definition, clinical manifestations, pathological mechanism and the treatment methods of radiofrequency ablation of neuropathic pain were expounded, in order to provide reference for related clinicians in radiofrequency ablation.

[Analysis of the efficacy and safety of CT-guided radiofrequency ablation of posterior root of the spinal nerve in the treatment of postherpetic neuralgia].

Objective: To investigate the efficacy and safety of CT-guided radiofrequency ablation of posterior root of spinal nerve in the treatment of postherpetic neuralgia (PHN). Methods: A total of 102 PHN patients (42 males and 60 females) aged (69.7±9.4) years who underwent CT-guided radiofrequency ablation of posterior root of spinal nerve in the Department of Pain Medicine of the Affiliated Hospital of Jiaxing University from January 2017 to April 2020 were retrospectively included. Patients were followed up, and numerical rating scale (NRS) score, Pittsburgh sleep quality index (PSQI), satisfaction score and complications before surgery (T0) and at 1 d (T1), 3 months (T2), 6 months (T3), 9 months (T4) and 12 months (T5) after surgery were recorded. Results: The NRS score of PHN patients at T0, T1, T2, T3, T4, and T5 [M(Q1, Q3)] was 6(6, 7), 2(2, 3), 3(2, 4), 3(2, 4), 2(1, 4), 2(1, 4), respectively. Likewise, the PSQI score [M(Q1, Q3)] at aforementioned time points was 14(13, 16), 4(3, 6), 6(4, 8), 5(4, 6), 4(2, 8), 4(2, 9), respectively. Compared with T0, the NRS and PSQI scores at all time points from T1 to T5 were lower, with statistically significant differences (all P<0.001). The overall effective rate of surgery at 1 year postoperatively was 71.6% (73/102) with a satisfaction score of 8(5, 9), and the recurrence rate was 14.7% (15/102) with a recurrence time of (7.5±0.8) months. The main postoperative complication was numbness, with an incidence of 86.0% (88/102), and the degree of numbness gradually decreased with time. Conclusion: CT-guided radiofrequency ablation of posterior root of spinal nerve for PHN has a high effective rate and a low recurrence rate, with high safety profile, and may be a feasible surgical option for the treatment of PHN.

[Analysis of the efficacy and safety of CT-guided dorsal root ganglion pulsed radiofrequency combined with ozone injection in the treatment of acute herpes zoster neuralgia in the neck and upper extremities].

Objective: To investigate the efficacy and safety of pulsed radiofrequency of dorsal root ganglion combined with ozone injection on acute herpes zoster neuralgia in the neck and upper extremities. Methods: A total of 110 patients with acute phase herpes zoster neuralgia in the neck and upper extremities treated in the Department of Pain of Jiaxing First Hospital from January 2019 to February 2020 were retrospectively included. The patients were divided into two groups according to different treatment modalities: the pulsed radiofrequency group (group A, n=68) and the pulsed radiofrequency combined with ozone injection group (group B, n=42). In group A, there were 40 males and 28 females, aged (71.9±9.9) years, while group B consisted of 23 males and 19 females, aged (66.3±16.9) years. Patients were followed up, and numerical rating scale (NRS) score, dose of adjuvant gabapentin, incidence of clinically significant postherpetic neuralgia (PHN) and adverse effects were recorded preoperatively (T0) and at 1 d (T1), 3 d (T2), 1 week (T3), 1 month (T4), 2 months (T5), and 3 months (T6) postoperatively. Results: The NRS score of patients [M (Q1, Q3)] in group A at time points T0, T1, T2, T3, T4, T5 and T6 was 6 (6, 6), 2 (2, 2), 3 (3, 4), 3 (2, 3), 2 (2, 3), 2 (1, 3) , 1 (0, 2), respectively, while the NRS score at aforementioned time points in group B was 6 (6, 6), 2 (1, 2), 3 (3, 4), 3 (2, 3), 2 (2, 3), 2 (1, 3), 1 (0, 2), respectively. Compared with preoperative NRS scores, NRS scores decreased in both groups at all postoperative time points (all P<0.05). Compared with group A, the NRS scores of group B at time points T3, T4, T5, and T6 decreased more significantly, with statistically significant differences (all P<0.05). The dose of gabapentin in group A [M (Q1, Q3)] was 0.6 (0.6, 0.6), 0.3 (0.3, 0.6), 0.3 (0.0, 0.3) and 0.0 (0.0, 0.3) mg/d at time points T0, T4, T5, and T6, respectively, and 0.6 (0.6, 0.6), 0.3 (0.2, 0.3), 0.0 (0.0, 0.3) 0.0 (0.0, 0.0) mg/d in patients in group B, respectively. Compared with the preoperative period, the doses of gabapentin taken by patients in both groups reduced significantly at all postoperative time points (all P<0.05). Moreover, compared with group A, the gabapentin dose in group B decreased more significantly at time points T4, T5, and T6, with statistically significant differences (all P<0.05). The incidence of clinically significant PHN was 25.0% (17/68) and 7.1% (3/42) in groups A and B, respectively, and the differences were statistically significant (P=0.018). No serious adverse effects such as pneumothorax, spinal cord injury and hematoma were observed during the treatment period in both groups. Conclusion: Pulsed radiofrequency of dorsal root ganglion combined with ozone injection is safer and more effective for the treatment of acute phase herpes zoster neuralgia in the neck and upper extremities, and it can reduce the incidence of clinically significant PHN, with high safety profile.

[Effects of interleukin-4-modified gold nanozymes on the full-thickness skin defects in diabetic mice].

Objective: To investigate the effects and mechanism of interleukin-4-modified gold nanoparticle (IL-4-AuNP) on the wound healing of full-thickness skin defects in diabetic mice. Methods: Experimental research methods were adopted. Gold nanoparticle (AuNP) and IL-4-AuNP were synthesized by improving the methods described in published literature. The morphology of those two particles were photographed by transmission electron microscopy, and their particle sizes were calculated. The surface potential and hydration particle size of the two particles were detected by nanoparticle potentiometer and particle size analyzer, respectively. The clearance rate of IL-4-AuNP to hydrogen peroxide and superoxide anion was measured by hydrogen peroxide and superoxide anion kits, respectively. Mouse fibroblast line 3T3 cells were used and divided into the following groups by the random number table (the same below): blank control group, hydrogen peroxide alone group treated with hydrogen peroxide only, hydrogen peroxide+IL-4-AuNP group treated with IL-4-AuNP for 0.5 h and then treated with hydrogen peroxide. After 24 h of culture, the reactive oxygen species (ROS) levels of cells were detected by immunofluorescence method; cell count kit 8 was used to detect relative cell survival rate. The macrophage Raw264.7 mouse cells were then used and divided into blank control group and IL-4-AuNP group that treated with IL-4-AuNP. After 24 h of culture, the expression of arginase 1 (Arg-1) in cells was observed by immunofluorescence method. Twelve male BALB/c mice (mouse age, sex, and strain, the same below) aged 8 to 10 weeks were divided into IL-4-AuNP group and blank control group, treated accordingly. On the 16th day of treatment, whole blood samples were collected from mice for analysis of white blood cell count (WBC), red blood cell count (RBC), hemoglobin level, or platelet count and the level of aspartate aminotransferase (AST), alanine transaminase (ALT), urea, or creatinine. The inflammation, bleeding, or necrosis in the heart, liver, spleen, lung, and kidney tissue of mice were detected by hematoxylin-eosin (HE). Another 36 mice were selected to make diabetic model, and the full-thickness skin defect wounds were made on the back of these mice. The wounds were divided into blank control group, AuNP alone group, and IL-4-AuNP group, with 12 mice in each group, and treated accordingly. On the 0 (immediately), 4th, 9th, and 15th day of treatment, the wound condition was observed and the wound area was calculated. On the 9th day of treatment, HE staining was used to detect the length of neonatal epithelium and the thickness of granulation tissue in the wound. On the 15th day of treatment, immunofluorescence method was used to detect ROS level and the number of Arg-1 positive cells in the wound tissue. The number of samples was 6 in all cases. Data were statistically analyzed with independent sample t test, corrected t test, Tukey test, or Dunnett T3 test. Results: The size of prepared AuNP and IL-4-AuNP were uniform. The particle size, surface potential, and hydration particle size of AuNP and IL-4-AuNP were (13.0±2.1) and (13.9±2.5) nm, (-45.8±3.2) and (-20.3±2.2) mV, (14±3) and (16±4) nm, respectively. For IL-4-AuNP, the clearance rate to hydrogen peroxide and superoxide anion were (69±4)% and (52±5)%, respectively. After 24 h of culture, the ROS level of 3T3 in hydrogen peroxide alone group was significantly higher than that in blank control group (q=26.12, P<0.05); the ROS level of hydrogen peroxide+IL-4-AuNP group was significantly lower than that in hydrogen peroxide alone group (q=25.12, P<0.05) and close to that in blank control group (P>0.05). After 24 h of culture, the relative survival rate of 3T3 cells in hydrogen peroxide+IL-4-AuNP group was significantly higher than that in hydrogen peroxide alone group (t=51.44, P<0.05). After 24 h of culture, Arg-1 expression of Raw264.7 cells in IL-4-AuNP group was significantly higher than that in blank control group (t'=8.83, P<0.05).On the 16th day of treatment, there were no significant statistically differences in WBC, RBC, hemoglobin level, or platelet count and the level of AST, ALT, urea, or creatinine of mice between blank control group and IL-4-AuNP group (P>0.05). No obvious inflammation, bleeding or necrosis was observed in the heart, liver, spleen, lung, and kidney of important organs in IL-4-AuNP group, and no significant changes were observed compared with blank control group. On the 0 and 4th day of treatment, the wound area of diabetic mice in blank control group, AuNP alone group, and IL-4-AuNP group had no significant difference (P>0.05). On the 9th day of treatment, the wound areas both in AuNP alone group and IL-4-AuNP group were significantly smaller than that in blank control group (with q values of 9.45 and 14.87, respectively, P<0.05), the wound area in IL-4-AuNP group was significantly smaller than that in AuNP alone group (q=5.42, P<0.05). On the 15th day of treatment, the wound areas both in AuNP alone group and IL-4-AuNP group were significantly smaller than that in blank control group (with q values of 4.84 and 20.64, respectively, P<0.05), the wound area in IL-4-AuNP group was significantly smaller than that in AuNP alone group (q=15.80, P<0.05); moreover, inflammations such as redness and swelling were significantly reduced in IL-4-AuNP group compared with the other two groups. On the 9th day of treatment, compared with blank control group and AuNP alone group, the length of neonatal epithelium in the wound of diabetic mice in IL-4-AuNP group was significantly longer (all P<0.05), and the thickness of the granulation tissue in the wound was significantly increased (with q values of 11.33 and 9.65, respectively, all P<0.05). On the 15th day of treatment, compared with blank control group, ROS levels in wound tissue of diabetic mice in AuNP alone group and IL-4-AuNP group were significantly decreased (P<0.05). On the 15th day of treatment, the number of Arg-1 positive cells in the wounds of diabetic mice in IL-4-AuNP group was significantly more than that in blank control group and AuNP alone group, respectively (all P<0.05). Conclusions: IL-4-AuNP is safe in vivo, and can improve the oxidative microenvironment by removing ROS and induce macrophage polarization towards M2 phenotype, thus promote efficient diabetic wound healing and regeneration of full-thickness skin defects in diabetic mice.

[Cross-sectional associations between reproductive lifespan duration and urinary albumin-creatinine ratio].

Objective: To investigate the association between reproductive lifespan duration (RLD) and urinary albumin-creatinine ratio (UACR) in a Chinese postmenopausal population. Methods: This cross-sectional study included 11 055 naturally postmenopausal women from seven regions of China from May to December 2011. RLD was divided into four groups. Propensity score matching was performed to reduce bias, and logistic regressions and stratifications were conducted to investigate the association between RLD and increased UACR (≥30 mg/g). Mediation effect analysis was performed to quantify the effect of RLD on cardiovascular disease (CVD) induced by elevated UACR. Results: There were 2 373 participants with a RLD of 18-31 years, 2 888 participants with a RLD of 32-34 years, 2 472 participants with a RLD of 35-36 years, and 3 322 participants with a RLD of 37-50 years. The shortest RLD (18-31 years) group was characterized with older age (P<0.001), a higher incidence of CVD (P=0.025), and the highest level of UACR (P<0.001). After adjusting for confounders, women with a longer RLD (37-50 years group) exhibited a lower risk of UACR elevation compared with those with the shortest RLD (18-31 years group) (OR=0.72, 95%CI 0.64-0.82, P<0.001). Every 1-year extension in RLD was linked to a 2% reduction in the risk of UACR elevation (OR=0.98, 95%CI 0.97-0.99, P<0.001). Stratified analysis revealed a more significant association between RLD and UACR in women who were a normal weight (P=0.003) or overweight (P=0.001), in those without CVD history (P=0.001), and in those with impaired estimated glomerular filtration rate (P=0.004). The mediation casual analysis showed that 3.0% of proteinuria inducing CVD events was mediated by RLD (P=0.048). Conclusion: A longer RLD (37-50 years) is associated with a lower UACR in Chinese postmenopausal women.

[Clinical follow-up analysis of multidisciplinary treatment of children with spinal muscular atrophy].

Objective: To analyze the follow-up and clinical effect of multidisciplinary treatment on the children with spinal muscular atrophy (SMA). Methods: The clinical data including nutritional status, respiratory function, bone health and motor function of 45 children with SMA who received multidisciplinary management 1-year follow-up in the Children's Hospital, Zhejiang University School of Medicine from July 2019 to October 2021 were retrospectively collected. Comparisons before and after management were performed using paired-samples t-test or Wilcoxon rank-sum test, etc. Results: The age of 45 patients (25 boys and 20 girls) was 50.4 (33.6, 84.0) months at the enrollment, with 6 cases of type 1, 22 cases of type 2, and 17 cases of type 3 respectively. After the multidisciplinary management, the cases of SMA patients with malnutrition decreased from 22 to 12 (P=0.030), the level of vitamin D were significantly increased ((45±17) vs. (48±14) nmol/L, t=-4.13, P<0.001). There was no significant difference in the forced vital capacity %pred, the forced expiratory volume at 1 second %pred, and the peak expiratory flow %pred ((76±19)% and (76±21)%, (81±18)% and (79±18)%, (81±21)% and (78±17)%; t=-0.24, 1.36, 1.21; all P>0.05). The Cobbs angle of scoliosis also improved significantly (8.0°(0°, 13.0°) vs. 10.0°(0°, 18.5°), Z=-3.01, P=0.003). The Hammersmith functional motor scale expanded scores of children with SMA type 2 and type 3 both showed significant elevation (11.0 (8.0, 18.0) vs. 11.0 (5.0, 18.5) scores, 44.0 (36.5, 53.0) vs. 44.0 (34.0, 51.5) scores, Z=2.44, 3.11, P=0.015, 0.002). Conclusion: Multidisciplinary management is beneficial for delaying the progression of the multi-system impairments of SMA patients, such as malnutrition, restrictive ventilation dysfunction and scoliosis.

[The diagnostic potential of Golgi protein 73 for cirrhosis in patients with chronic hepatitis C].

Objective: To explore the diagnostic value and model of serum Golgi protein 73 (GP73) in patients with hepatitis C cirrhosis. Methods: 271 cases with chronic hepatitis C virus infection who were treated in the Fifth Medical Center of PLA General Hospital from January 2010 to December 2017 were retrospectively collected as the research objects, including 126 cases with hepatitis and 145 cases with liver cirrhosis. Serum GP73 and liver stiffness measurement (LSM) based on transient elastography test were performed in all patients. Simultaneously, blood routine, liver function, coagulation function and other related indicators were collected. GP73 diagnostic efficiency for liver cirrhosis was evaluated by receiver operating characteristic curve (ROC). GP73 diagnostic value was clarified after comparison with aspartate aminotransferase/platelet ratio index (APRI), FIB-4 index (FIB-4) and LSM. Compensated hepatitis C virus-related cirrhosis diagnostic model based on serological index was established by logistic regression analysis. Results: The area under the receiver operating characteristic curve (AUC) of GP73, LSM, FIB-4 and APRI in the diagnosis of compensated hepatitis C virus-related cirrhosis were 0.923, 0.839, 0.836 and 0.800 respectively, and GP73 had the best diagnostic efficiency (P <0.001). LSM and GP73 combined use had improved the diagnostic sensitivity of cirrhosis to 97.24%. Multivariate logistic regression analysis revealed that GP73, age, and platelets were independent predictors of cirrhosis.Compensated hepatitis C virus-related cirrhosis diagnostic model (GAP) was established based on the result: LogitP=1/[1+exp(6.145+0.013×platelet-0.059×age-0.059×GP73)].AUC model for diagnosing compensated liver cirrhosis was 0.944, and the optimal cut-off value was 0.56, with sensitivity and specificity of 84.03% and 92.06%, respectively, and the diagnostic efficiency of this model was better than that of APRI, FIB-4, LSM and GP73 alone (P<0.05). Conclusion: GP73 is a reliable serum biomarker for the diagnosis of compensated hepatitis C virus-related cirrhosis. The GAP diagnostic model based on GP73, platelet count, and age can further improve the diagnostic efficiency and help to diagnose patients with compensated hepatitis C virus-related cirrhosis.

[Alteration of Wnt3a overexpression and its early monitoring value during hepatocellular carcinogenesis].

Objective: To investigate the dynamic expression pattern of carcinoembryonic Wnt3a and its early monitoring value using a hepatocellular carcinoma model. Methods: Forty-eight Sprague Dawley (SD) rats were fed with pellet feed containing 2-acetylaminofluorene (2-AAF, 0.05%) to induce hepatocarcinogenesis, and control rats were fed a pellet diet. Liver tissue and blood samples were collected every two weeks. Liver tissues were pathologically examined using HE staining and grouped. The gene and Wnt3a mRNA expression were analyzed by genome-wide microarray. The expression and distribution of Wnt3a in liver tissue were analyzed by immunohistochemistry. Wnt3a concentration in liver tissue and serum was quantified by enzyme-linked immunosorbent assay. Statistical methods such as χ2 test, Mann-Whitney test and analysis of variance were used to analyze the differences between groups. Results: According to the pathological examination results, the rat livers were divided into four groups: control, hepatocyte degeneration, precancerous lesions and hepatocellular carcinoma. Genome-wide expression profiling analysis and comparison with the control group revealed that 268 and 312 genes were up-regulated and 57 and 201 genes were down-regulated in the precancerous and cancerous group when signal logarithm ratio (SLR) was >8 log2cy5/cy3, and these significantly altered genes mainly involved in cell proliferation, signal transduction, tumor metastasis, and apoptosis. The expression of Wnt3a at mRNA level was significantly increased in all stages of cancer induction, including degeneration group (1.15±0.24, q=8.227), precancerous group (1.85±0.18, q=12.361) and cancerous group (2.59±0.55, q=18.082). Compared with the control group (0.25±0.11, F=121.103, P<0.001), the degeneration group, the precancerous group and the liver cancer group were up-regulated by 4.6, 7.4 and 10.4-folds, respectively. Immunohistochemistry showed that compared with the control group, the positive rate of Wnt3a in the degeneration group was 66.7% (12/18, χ2=10.701, P=0.001), and both the precancerous and liver cancer groups were positive (9/9, χ2=17.115, P<0.001). Wnt3a expression was gradually increased in liver and blood samples during the process of carcinogenesis, and the difference between two groups was statistically significant (F=176.711, P<0.001). Wnt3a overexpression was secreted into blood stream via cancerous liver tissue, and there was a linear correlation between Wnt3a levels in blood and liver samples (r=0.732, P<0.001). Conclusions: Wnt3a overexpression is closely related with hepatocellular carcinogenesis, and thus may become a new monitoring marker.

[Analysis of FBN1 genemutations in a pedigree with Marfan syndrome].

Mutations in fibrillin-1 (FBN1) were detected in an autosomal dominant Marfan syndrome (MFS) pedigree. The related phenotypes and the significance of mutation screening were discussed. Complete medical and cardiovascular examinations for all pedigree members were performed. Whole exons sequencing (WES) was used to sequence the DNA of the patients and their relatives. The potential pathogenic mutation sites were screened by bioinformatics method. Sanger sequencing was used to verify the mutation sites in the pedigree. The results showed that FBN1 missense mutation was c.6806 T>C in exon 56, resulting in isoleucine being replaced by threonine (p. Ile2269Thr). This mutation has not been reported in Chinese Han population. The occurrence of the mutations strongly correlated with the phenotypes of the patients. The results expand the mutation spectrum of FBN1, and it is helpful to further explore the molecular pathogenesis of MFS and MFS related diseases.

[Clinical follow-up analysis of nusinersen in the disease-modifying treatment of pediatric spinal muscular atrophy].

Objective: To explore the clinical efficacy of disease-modifying drug nusinersen on children with spinal muscular atrophy. Methods: The baseline and longitudinal clinical data of 15 children who were treated with nusinersen in the Children's Hospital, Zhejiang University School of Medicine from October 2019 to October 2021 were retrospectively collected. The general data (gender, age, genotype, and clinical classification, etc.), motor function, nutritional status, scoliosis and respiratory function were analyzed. Wilcoxon rank-sum test was used for comparing multi-system conditions before and after treatment. Results: The age of 15 cases (7 males, 8 females) was 6.8 (2.8, 8.3) years, with 2 cases of type 1, 6 cases of type 2, and 7 cases of type 3 respectively, and the course of disease was 55.0 (21.0, 69.0) months. After 9.0 (9.0, 24.0) months of treatment, the motor function scale evaluations of the Hammersmith neurological examination section 2 (13.0 (7.0, 23.0) vs. 18.0 (10.0, 25.0) scores, Z=-2.67, P=0.018) of 15 children, the Hammersmith functional motor scale expanded (38.0 (18.5, 45.5) vs. 42.0 (23.0, 51.0) scores, Z=-2.38, P=0.018), and the revised upper limb module (27.0 (19.5, 32.0) vs. 33.0 (22.5, 35.5) scores, Z=-2.52, P=0.012) of children with type 2 and 3 had significantly improved. Thirteen patients achieved clinically significant motor function improvement, and 2 of them had kept stable scale scores. Subjective reports also indicated that the muscle strength and daily exercise ability of these children improved after treatment, and no serious adverse reactions were reported. Supplemented by the multi-disciplinary team management, the levels of some indicators such as Cobbs angle of scoliosis and forced vital capacity all had significantly improved (all P<0.05). Conclusions: Nusinersen can improve the motor function of patients with 5q spinal muscular atrophy, which is also proved safe to be used in children. The drug treatment supplemented by the multi-disciplinary team management is helpful to improve the multi-system function of the children with spinal muscular atrophy.

Efficacy and safety of iodine-125 particle implantation for treatment of bone metastatic tumor pain: a retrospective analysis.

OBJECTIVE: Patients with advanced tumors often suffer from spinal metastatic tumor pain. The current drugs are less effective and have side effects. The objective was to explore the efficacy of iodine-125 particle implantation in the treatment of bone metastatic tumor pain. PATIENTS AND METHODS: In a retrospective study, a total of 27 patients with bone metastatic tumors who could not receive surgery or radiotherapy and chemotherapy were analyzed. All patients received conventional treatment, with the visual analog scale (VAS) of >3 points, and the daily onset pain of >3 times. All patients received CT-guided iodine-125 particle implantation to treat local painful lesions. VAS scores were recorded before treatment (T0) and 1 day (T1), 7 days (T2), 30 days (T3), 90 days (T4), and 180 days (T5) after treatment. Kaplan-Meier analytical method was used to calculate the local control rate (LCR) and survival rate (SR). RESULTS: All patients successfully completed the CT-guided iodine-125 particle implantation. There was no significant difference in VAS scores before and 1 day after surgery. However, compared with pre-operation, the VAS scores decreased at 7, 30, 90, and 180 days after surgery. The postoperative follow-up was 6-38 months, with a median of 16 months; the LCR at 1, 2, and 3 years after the follow-up were 87%, 51%, and 21%, respectively, and the SR was 84%, 43%, and 16%, respectively. Moreover, no serious adverse reactions were observed. CONCLUSIONS: Iodine-125 particle implantation was effective in the treatment of bone metastatic tumor pain without serious complications, and hence, can be used clinically.