Objective:To investigate the clinical phenotype and genetic characteristics of patients with Fabry disease caused by a GLA variant, IVS4+919G>A.Methods:It was a prospective study. Fabry disease screening was conducted among high-risk population in Ninghai from October 2021 to August 2023. Those children with decreased α-galactosidase enzyme activity<2.40 μmol/(L·h) or elavated Lyso-GL-3 level>1.10 μg/L in dried blood spot (DBS) method underwent GLA genetic testing for diagnosis confirmation. Meanwhile, family screening was carried out. A proband and his family members diagnosed with Fabry disease were research subjects. The clinical and genetic characteristics of patients with Fabry disease caused by the GLA variant (IVS4+919G>A) were analyzed.Results:The female proband aged 9.8 years with pain in both lower limbs as the initial symptom was found to have a heterozygous GLA variant IVS4+919G>A among 102 patients. In family screening, there were 4 family members (proband's father, elder sister, elder male cousin and elder female cousin) with Fabry disease and a family member (proband's fifth aunt) with a GLA variant. Among these 4 diagnosed family members, the elder male cousin of the proband, a boy aged 13.2 years had a heterozygous GLA variant, IVS4+919G>A with intermittent pain in both lower limbs as the initial symptom. The proband′s father had knee joint pain. The proband′s elder sister had decreased vision and his elder female cousin had no obvious symptoms. The proband′s fifth aunt with a GLA variant had decreased vision.Conclusions:High-risk screening in children and family screening are helpful for early diagnosis and treatment of Fabry disease. Neuropathic pain may be a early symptom in children with Fabry disease caused by the GLA variant, IVS4+919G>A.

Objective:To investigate the correlation between the uterine incisional hematoma following cesarean section and scar diverticulum.Methods:This is a retrospective study involving 1 939 women who underwent cesarean section for the first time at the People's Hospital of Longhua Shenzhen from January 2020 to December 2021. Women with uterine incisional hematoma were selected as the hematoma group ( n=149) and were further divided into the dehiscence group, including patients with uterine incisional dehiscence caused by hematoma, and non-dehiscence group, including those without uterine incisional dehiscence. The patients without uterine incisional hematoma during the same period were selected as the control group ( n=110). The incidence of scar diverticulum after uterine incision healing and the long-term outcomes in the two groups were compared. Statistical analysis was performed using a t-test or Chi-square test. Results:(1) The incidence of uterine incisional hematoma was 7.7% (149/1 939). In the 149 cases with uterine incisional hematoma detected by postoperative ultrasonography, 74 were in the dehiscence group and 75 in the non-dehiscence group. (2) The number of women developing cesarean section scar diverticulum was 41, with an incidence of 2.1% (41/1 939), and all of them were in the hematoma group, accounting for 27.5% (41/149). The proportion of women who developed scar diverticulum in the dehiscence group was higher than that of the non-dehiscence group [52.7% (39/74) vs. 2.7% (2/75), χ2=35.96, P<0.001]. (3) The incidence of scar diverticulum in patients with uterine incisional dehiscence caused by intra-incision hematoma, intra- and posterior incision hematoma, as well as a combination of intra-, anterior, and posterior incision hematoma were 10/18, 55.1% (27/49), and 2/2, respectively. None of the five patients with uterine scar diverticulum were caused by anterior incision hematoma plus partial intra-incision hematoma. The incidence of scar diverticulum was 2.7% (2/75) in the non-dehiscence group. (4) Among the 41 cases with scar diverticulum, ultrasound re-examination by postpartum 6-24 months found that the results of 40 (97.6%) cases were consistent with the last ultrasound findings. A small "v"-shaped scar diverticulum was observed in another patient by ultrasound 42 d after delivery, which disappeared in a re-examination 13 months after surgery. Conclusions:Uterine incisional hematoma is associated with scar diverticulum following cesarean section. Uterine incisional dehiscence due to hematoma may be an influencing factor for diverticulum formation.

Objective:To correlate diaphragmatic ultrasound parameters and pulmonary function in patients with chronic obstructive pulmonary disease (COPD) and its clinical value in the diagnosis of COPD.Methods:Eighty patients with COPD who received treatment in The First People's Hospital of Huzhou from January 2019 to June 2020 and 80 healthy subjects who concurrently received health examination were included in this study. Pulmonary function index, diaphragmatic ultrasonic parameters and activity endurance index were compared between COPD group and healthy control group. Diaphragmatic ultrasound parameters in COPD patients were correlated with pulmonary function index and activity endurance index.Results:The forced expiratory volume in 1 second/forced vital capacity (FEV 1/FVC) ratio in the COPD group was significantly lower than that in the healthy control group [(56.27 ± 8.98)% vs. (87.42 ± 6.29)%, t = 14.583, P < 0.05]. The residual volume/total lung capacity (RV/TLC) ratio in the COPD group was significantly higher than that in the healthy control group [(54.81 ± 6.95) % vs. (27.59 ± 3.92) %, t = 17.904, P < 0.05]. The walking distance in 6-minute walking test (6MWT) in the COPD group was significantly shorter than that in the healthy control group [(502.36 ± 82.41) m vs. (824.59 ± 63.37) m, t = 11.726, P < 0.05]. The diaphragm mobility using quite breathing (DM QB), the diaphragm mobility using deep breathing (DM DB), and diaphragmatic thickening fractions (TF) in the COPD group were (1.71 ± 0.45) mm, (4.03 ± 0.81) m and (117.56 ± 24.83) %, respectively, which were significantly lower than those in the healthy control groups [(2.24 ± 0.30) mm, (5.36 ± 0.62 ) mm, (159.60 ± 22.35)%, t = 4.736-7.592, all P < 0.05]. DM QB, DM DB and TF in patients with COPD were positively correlated with FEV 1/FVC and 6MWT distance ( r = 0.705-0.819, all P < 0.05), but they were negatively correlated with residual volume/total lung capacity (RV/TLC) ratio ( r = -0.774 to -0.847, all P < 0.05). Conclusions:DM QB, DM DB and TF decrease in COPD patients, and their values are correlated with pulmonary function and activity tolerance index. Ultrasound examination of diaphragmatic morphological change is of certain clinical value for the diagnosis and evaluation of COPD.

Objective:To explore the influence of frequency of machinery heating power cleaning on dental handpiece loss and cleaning effect.Methods:This study selected 180 completely new high speed dental handpiece with machinery heating power cleaning. All of handpiece were randomly divided into group A, B and C, 60 cases in each group. Cleaning, oiling by special oiling machine, packing and sterilizing were carried out for the dental handpiece after being used. Group A, B and C implemented the process including machinery heating power cleaning, cleaning and oiling by special oiling machine, packing as well as sterilizing weekly, every other week and every three weeks respectively. This study randomly extracted 5 cases in each group to check the visible stains and monitor the cleaning effects after 3, 6 and 9 months.Results:Among group A, B and C, the using times were (56.60±24.77) , (49.70±30.08) , and (46.73±35.16) respectively with no statistical difference ( P=0.800) . There were 15 dental handpiece with trouble in 9 months, 4 in group A, 7 in group B and 4 in group C with no statistical difference ( P=0.660) ; 12 of them could be continued use after simple repair, 1 in group A, 7 in group B and 4 in group C with no statistical differences ( P=0.100) ; 3 of them could be continued use after changing central spindle, all in group A. The pass rates of visible cleanliness were all 100%. Conclusions:On the basis of cleaning and oiling by special oiling machine, machinery heating power cleaning every three weeks for dental handpiece can ensure the internal cleaning and improve working efficiency, but will not increase the loss.

Kallmann syndrome ( KS) is a rare disease and characteristic of an absence of puberty, infertility, and a defective sensation of smell (anosmia or hyposmia). Here, we analyze the features of a case of KS diagnosed clinically. In addition, the etiology, genetic features, clinical manifestations, diagnosis, and treatment of KS were reviewed.

Klinefelter syndrome(KS) is the most common sex chromosome disorder in males,which is caused by the presence of the extra X chromosome that maybe inherited from mother or father. Approximately 80% karyotype of the cases is 47,XXY. KS is characterized by small firm testes, hypergonadotropic hypogonadism, infertility,gynaecomastia, increased height. However, cognitive disabilities and psychiatric disorders are rarely diagnosed in KS because they lack screening in related aspects. At the present, the pathogenesis of cognitive disabilities and increased risk of psychiatric diseases in KS have not been delineated. In this article,we report two cases of KS,and review their clinical manifestations,diagnosis,and treatments.

Objective To explore the expression of annexin A10 (ANXA10) in human hepatocellular carcinoma (HCC),and analyze its correlation with matrix metalloproteinases-9 (MMP-9) and vascular endothelial growth factor (VEGF),thus to provide the basis for clinical diagnosis and assessment of HCC.Methods 88 HCC patients were selected,and they were all performed surgical treatment,HCC stage Ⅰ in 11 cases,stage Ⅱ 25 cases,stage Ⅲ 31 cases,stage ⅣV 21 cases.The expressions of ANXA10,MMP-9,VEGF of HCC cancer tissues,adjacent liver tissues and normal liver tissues were tested by immunohistochemical method.The correlation of ANXA10 with VEGF and MMP-9 was analyzed.Results The absorbance value of ANXA10 expression in the HCC cancer tissue was (0.074 ± 0.012),which was lower than that in the adjacent liver tissues [(0.091 ± 0.013)] and normal liver tissues[(0.131 ±0.025)],and ANXA10 expression of the adjacent liver tissue was lower than that of the normal liver tissues,the differences were statistically significant (t =8.96,9.44,8.71,all P ＜ 0.05).The absorbance values of MMP-9 and VEGF expression in the HCC cancer tissue were (0.147 ± 0.017) and (0.127 ± 0.028),respectively,which were higher than those in the adjacent liver tissues [(0.096 ± 0.012),(0.091 ± 0.015)] and normal liver tissues [(0.075 ± 0.014),(0.077 ± 0.019)].The absorbance values of MMP-9 and VEGF of the adjacent liver tissues were higher than those of the normal liver tissues,the differences were statistically significant (t =8.05,9.30,8.11;8.28,9.51,8.02,all P ＜ 0.05).The absorbance value of ANXA 10 expression in the HCC stage Ⅲ + Ⅳ cancer tissue was (0.056 ± 0.010),which was lower than that in the stage Ⅰ + Ⅱ cancer tissue [(0.082 ±0.016)],the difference was statistically significant (t =8.90,P ＜ 0.05).The absorbance values of MMP-9 and VEGF expression in the stage Ⅲ + Ⅳ cancer tissue were (0.157 ± 0.022) and (0.169 ± 0.033),respectively,which were higher than those in the stage Ⅰ + Ⅱ cancer tissue [(0.114 ±0.015),(0.091 ±0.021)],the differences were statistically significant (t =9.13,9.72,all P ＜ 0.05).ANXA10 was correlated with MMP-9 and VEGF (r =0.324,0.295,all P ＜ 0.05).Conclusion ANXA10 presents lower expression in HCC cell,and the expression decreased with the increase of staging.It is negatively related with the MMP-9 and VEGF.ANXA10 expression missing or inactivation of malignant change may be one of the most important features in HCC.

Objective To evaluate the clinical efficacy of coaxial micro-incision phacoemulsification for intraoperative floppy iris syndrome (IFIS) during cataract surgery.Methods A prospective randomized control study was conducted in 80 patients (80 eyes) taking tamsulosin more than two weeks with age-related cataract from October 2014 to October 2016.All cases were randomly divided into microincision group (MICS group) and standard incision group (SICS group),40 cases in each group.Coaxial 1.8 mm microincision cataract surgery was performed in the MICS group,and coaxial 2.6 mm standard incision cataract surgery was performed in the SICS group.The incidence and the degree of IFIS and complications were recorded during the operation.The uncorrected visual acuity (UCVA) was compared at 1 day,1 week,1 month after surgery.Results At postoperative 1 day,1 week and 1 month,UCVA was 0.83 ± 0.12,0.86 ±0.10,0.89 ±0.11 in the MICS group,and was 0.71-±0.12,0.75 ±0.11,0.83 ±0.12 in the SICS group,there were statistical differences (all P ＜ 0.05),the UCVA of MICS group was better than that of SICS group.The incidence of IFIS was 60.0％ in the MICS group,and 82.5％ in the SICS group,there was statistical difference (P ＜ 0.05).There was statistical difference on degree of IFIS between two groups (P ＜ 0.05),the degree of IFIS in the MICS group was lower than that in the SICS group.Conclusion The coaxial microincision phacoemuisification is a safe and effective surgery for the patients with cataract and high risk of IFIS.

Inhibition of NEDD8 activating enzyme (NAE),the rate limiting enzyme in Neddylation,can suppress the activity of ubiquitin-proteasome system (UPS) pathway and decrease degradations of related proteins,resulting in cell apoptosis.Compared with the proteasome inhibitors,NAE inhibitors can interfere with cellular homeostasis with more specificity.With the rapid development of the research on NAE,a variety of NAE inhibitors have been reported.According to the structure characteristics,NAE inhibitors can be divided into the AMP analogues,double flavonoids deoxidization duckbill alkali ketone derivatives and metal rhodium complex classes,etc.The process of ubiquitinated modified Neddylation,NAE and physiological role of tumor has been introduced in this paper,and the latest progress of NAE inhibitors also has been summarized.

Objective To design a kind of nasal feeding nutritional tube that can carry 125I particles,to use this tube for the treatment of upper digestive tract malignant occlusive disease in order to achieve double effect of nasal feeding nutrition and brachytherapy.Methods 125I particles were put into a 3F catheter,then both ends of the catheter were sealed off to make 125I particle chain.By using binding technology,the 125I particle chain was fixed on the nasal feeding tube.Under DSA guidance,the nasal feeding tube carrying 125I particle chain was inserted into the esophagus,with the 125I particle chain segment crossing over the section of esophageal stenosis or occlusion to conduct brachytherapy.This technique was employed in 6 patients with advanced esophageal carcinoma.The technical success rate,operation time and complications were recorded.Two months after the treatment,the Karnofsky score,visual analogue scale (VAS) pain score,Neuhaus dysphagia grading,esophagus patency on esophageal radiography,and local tumor control rate were determined.Results The preparation of nasal feeding nutritional tube carrying 125I particle chain was simple.The technical success rate was 100％,the mean operation time was 15.5 min,no serious complications such as bleeding or infection occurred.Two months after the treatment,the Karnofsky score,VAS pain score and Neuhaus dysphagia grading were significantly improved when compared with the preoperative data (P＜0.O1).On esophageal radiography,the contrast agent passed through the narrow area smoothly.Partial remission (PR) of local tumor was obtained in all patients,and the local tumor control rate was 100％.The patients were followed up for 2-6 months,one patient developed recurrent obstruction.Conclusion It is simple and easy to prepare a nasal feeding nutritional tube carrying 125I particle chain,the use of this kind of tube can achieve both parenteral nutrition and brachytherapy at the same time.Therefore,this technique opens a new way for the treatment of esophageal malignant tumor.