Objective:To analyze the efficacy and safety of enzyme replacement therapy (ERT) in Chinese patients with Fabry disease.Methods:A retrospective analysis of the clinical manifestations, genetic variations, family screening, treatments and adverse reactions was conducted in five patients with Fabry disease admitted to the First Affiliated Hospital of Zhejiang University College of Medicine from July 2020 to May 2021. The dosage of agalsidase β was 1 mg/kg by intravenous pump once every 2 weeks.Results:Five male patients with median age of 37 years old (29-51 years old) were diagnosed based on clinical features, family history, α-galactosidase A (α-Gal A) activity, genetic analysis results and kidney biopsy. The clinical manifestations varied in these five patients. All patients had abnormal electrocardiogram, abnormal cardiac ultrasonography and abnormal urinalysis results, three experienced acroparaesthesia during childhood (one patient had persistent pain until adulthood), three had cutaneous angiokeratoma, four had renal insufficiency, four had hypohidrosis, four had diarrheas, four had cornea verticillata and two had high-frequency hearing loss. Two missense mutations of the GLA gene were identified: c.272T>C(p.I91T) and c.868A>G(p.Met290Val). Two nonsense mutations were c.1024C>T(p.Arg342*) and c.838C>T(p.Gln280*). Furthermore, the frameshift mutation c.348del p.(Ile117Phefs*4) was detected, which was not included in the known database, presented with classical Fabry disease. There was no serious adverse reaction during agalsidase β infusion in 5 patients. ERT reduced the plasma globotriaosylsphingosine (lyso-GL-3) levels after treatment of 2-10 months ( P<0.05), and the long-term diarrhea symptom were significantly improved. Conclusions:The clinical manifestations of Fabry disease are varied. Severe adverse events rarely occur in patients treated with short-term ERT. Plasma lyso-GL-3 levels decrease significantly after treatment.

Objective:To analyze the serum 25-hydroxyvitamin [25(OH)D] nutritional status of children with febrile seizures in Luzhou area of Sichuan Province, and the relationship of 25(OH)D with gender, age and the local season, so as to provide reference for vitamin D supplementation and prevention of febrile seizures in children in this area.Methods:One hundred and sixty-seven children diagnosed with febrile seizures in the Affiliated Hospital of Southwest Medical University from January 2015 to July 2018 were enrolled in the febrile seizures group, and 170 children aged 0-8 years who underwent health examinations in the outpatient department in the same period were included in the healthy control group.The serum total calcium, serum 25(OH)D and hemoglobin level of children with febrile seizures were analyzed.The correlation of febrile seizures with the level of serum 25 (OH)D was evaluated from the aspects of children gender, age and season.Results:(1) The serum 25(OH)D level of healthy children [(40.6±3.07) μg/L] was significantly higher than that of the children with febrile seizures [(27.18±6.68) μg/L], and the diffe-rence was statistically significant ( t=3.15, P=0.03). The serum 25(OH)D level in children with febrile seizures decreased with age.There was no deficiency found in serum total calcium and hemoglobins of all children with febrile seizures.(2) The incidence rate of febrile seizures was the highest in January (35 cases, 20.96%) and in 2-year-old toddlers (72 cases, 44.91%). Boys were significantly more susceptible to febrile seizures than girls (1.73∶1.00). (3) The serum 25(OH)D level of children with febrile seizures in the region decreased in winter and summer (27.47-30.37 μg/L), and increased in spring and autumn (31.58-35.13 μg/L). The serum 25(OH)D level of children in winter [(27.47±1.80) μg/L] was statistically significantly different from that in spring [(31.58±1.31) μg/L] and in autumn [(35.13±3.93) μg/L] (all P<0.05). The serum 25(OH)D level in children with febrile seizures were inversely proportional to the high temperature in summer [T>35 ℃, 25(OH)D<30 μg/L]. The 25(OH)D level showed a downward trend when the temperature exceeded 35 degrees Celsius.The optimum temperature for children in this area to absorb vitamin D by sun-irradiation was 25-35 ℃. Conclusions:The occurrence of febrile seizures in children of all ages in Luzhou is closely related to the deficiency of vitamin D. Two-year-old boys are prone to be attacked by febrile seizures in January of each year.In addition to winter, children, especially those over 2 years old, are advised to supply vitamin D in high temperature periods in summer when outdoor activities are reduced.

Objective:To observe the efficacy of tedrogesterone tablets combined with clomiphene on polycystic ovary syndrome(PCOS) with infertility, and investigate its influence on serum levels of apolipoprotein B/apolipoprotein A1 ratio(ApoB/ApoA1), anti-mullerian hormone(AMH), advanced glycation end products(AGEs).Methods:From January 2017 to December 2018, 80 PCOS patients with infertility who met the criteria were screened and randomly divided into control group and observation group according to the digital table, with 40 cases in each group.The control group received clomiphene 50 mg/d, qd, and for 5 consecutive days.In the observation group, on the basis of the control group, tedrosterone tablet was added, 10 mg/time and qd, and continuously administered for 21 days.The two groups were treated for 4 menstrual cycles.The ovarian volume, follicular development, pregnancy rate, hormone levels, the endometrial receptivity, and serum ApoB/ApoA1, AMH, AGEs levels were compared between the two groups.Results:After treatment, the ovarian volume[(5.62±0.87)cm 3]of the observation group was significantly smaller than that of the control group[(7.94±1.03)cm 3]( t=7.722, P=0.000), and the maximum diameter of follicles in the observation group[(13.30±2.04)mm] was significantly larger than that in the control group[(11.12±1.83)mm]( t=5.530, P=0.0001). The pregnancy rate in the observation group was significantly higher than that in the control group(χ 2=4.990, P=0.025). The serum levels of follicle stimulating hormone(FSH)[(4.80±0.56)IU/L], luteinizing hormone(LH)[(7.35±0.11)IU/L], uterine pulse index(PI)(2.77±0.41), and uterine artery resistance index(RI)(0.61±0.09) in the observation group were significantly lower than those in the control group( t=5.003, P=0.000; t=6.449, P=0.000; t=5.304, P=0.000; t=5.008, P=0.000), and the estradiol(E 2)[(190.51±23.11)ng/L] and endometrial thickness[(10.11±1.57)mm] were significantly higher than those in the control group( t=38.521, P=0.000; t=6.001, P=0.000). The serum levels of ApoB/ApoA1(0.62±0.08), AMH[(4.13±0.61)μg/L], and AGEs[(118.04±13.35)ng/L] in the observation group were significantly lower than those in the control group( t=5.553, P=0.000; t=5.790, P=0.000; t=18.043, P=0.000). Conclusion:The efficacy of tedrogesterone tablets combined with clomiphene on PCOS with infertility is significant, and can down-regulate serum levels of ApoB/ApoA1, AMH, and AGEs.

Objective: We conducted a meta-analysis of randomized controlled trials to explore whether vitamin D supplementation is beneficial for symptom improvement in children with autism spectrum disorder. Methods: We systematically searched the PubMed database, EMBASE, Cochrane Library, Web of Science, Sino-Med, Wanfang Data, and China National Knowledge Infrastructure mainly up to September 2019. Using a fixed effects model, we calculated the standard mean difference with 95% confidence interval. Furthermore, we analyzed baseline serum 25-hydroxyvitamin D levels and outcome scores including the Social Responsiveness Scale and Child Autism Rating Scale scores after vitamin D supplementation. Results: There was no significant difference in baseline serum 25-hydroxyvitamin D levels among 203 children included from three studies in the meta-analysis. After vitamin D supplementation, the outcome scores in the experimental group were dramatically elevated compared with those in the control group (p = 0.03). Conclusion Vitamin D supplementation improves the typical symptoms of autism spectrum disorder, as indicated by reduced Social Responsiveness Scale and Child Autism Rating Scale scores; thus, it is beneficial for children with autism spectrum disorder.

Objective To deeply understand the risk factors of lymphedema for patients with breast cancer after surgery. Methods The phenomenological method was applied in this study. Semi-structured interview was used to collected data from 9 female breast cancer patients with lymphedema after surgery in our hospital from June to September 2016 for generic analysis. Results The risk factors of lymphedema could be categorized into four themes:(1)choice of treatment is the primary cause:axillary lymph node dissection; radiotherapy; chemotherapy; (2)not paying enough attention to lymphedema:lacking the knowledge of lymphedema; imbalance of physical activities for the affected limb; lacking awareness of exercise and protection of the affected limb. Conclusions Axillary lymph node dissection after radical surgery for patients with breast cancer is the primary cause of lymphedema, and paying not enough attention is an important factor, especially lacking the consciousness of prevention, so the nurses should emphasize education about prevention of lymphedema after surgery for patients, to improve the consciousness of them to reduce the occurrence of lymphedema and its influence on their quality of life.

OBJECTIVETo study the effect of shensongyangxin capsule on myocardial remodeling and ventricular fibrillation characteristics in rat with coronary artery ligation.

METHODTwenty-three male rats were randomly divided into sham-group (n = 5), model group (n = 6), anmiodarone group (n = 6) and shensongyangxin capsule group (n = 6). Drugs were administrated after modeling of 2 days, lasting four weeks. Two dimensional and Doppler images were acquired by a 15 MHz high-frequency linear ultrasound transducer at 4 weeks after operation, and chest was opened to detect ventricular fibrillation threshold value and persistent time.

RESULTAfter administration of four weeks, echocardiogram was detected. Compared with model group, shensongyangxin capsule group diastasis interventricular septum thickness (IVSTd) and left ventricle diameter (LVDd) were significiently different between them (1.20 +/- 0.49) vs (0.78 +/- 0.08) mm and (6.77 +/- 1.34) vs (7.95 +/- 0.92) mm, (P < 0.01 and 0.05); echocardiogram result had no difference in amiodarone and model groups (P > 0.05). LVMI measured by practicion was different between shensongyangxin capsule and model groups: (17.12 +/- 1.91) vs (18.95 +/- 1.41) g x m(-2), (P < 0.05), while amiodarone group had no difference compared with model group. Electrophysiology was used to detect ventricular fibrillation threshold value and 1-5, 6-10, 11-15 V three stages' ventricular fibrillation threshold persistent time were significiently different among each group (P < 0.01), 16-20 V stage's ventricular fibrillation persistent time were also different among each group (P <0.05). Sample "average ranks" showed ventricular fibrillation threshold value of amiodarone group and shensongyangxin capsule group were four times than model group; and amiodaron group had best effect of holding-back ventricular fibrillation persistent time.

CONCLUSIONThe coronary artery ligation can result in myocardial remodeling by increasing volume load, and at the same time influencing electrophysiology function of heart. Amiodaron elevated ventricular fibrillation threshold of heart, this effect maybe relate to influencing many ion channels of myocardial cellular membrane; shensongyangxin capsule also elevate ventricular fibrillation threshold of heart, this effect maybe also relate to influencing many ion channels of myocardial cellular membrane, and on the other hand this effect maybe relate to hold-back ventricular remodeling after coronary artery was ligated, accordingly improve electrophysiological base material of heart.

Animals ; Capsules ; therapeutic use ; Coronary Vessels ; drug effects ; physiopathology ; surgery ; Disease Models, Animal ; Drugs, Chinese Herbal ; administration & dosage ; Heart ; drug effects ; physiopathology ; Humans ; Ligation ; Male ; Random Allocation ; Rats ; Rats, Sprague-Dawley ; Ventricular Fibrillation ; drug therapy ; surgery ; Ventricular Remodeling ; drug effects

Objective To study the efficacy and toxicity of tetrakis(hydroxymethyl)phosphonium sulfate(THPS)in indoor air disinfection.Methods The orthogonal experiments were employed with three factors including concentration of THPS,temperature and time,and four levels including the concentrations of THPS,0.05%,0.1%,0.5%,1%,and the temperature,15℃,20℃,25℃,30℃,and the time,2 h,4 h,8 h,16 h.The germicidal effect of THPS with those factors was assessed.Using modified method,Daphnia magna straus(Cladocera crustacea),Brachydanio rerio,mice were randomly divided into 5 dose groups and a control respectively.For Daphnia magna straus(Cladocera crustacea),123.03 mg/L,134.90 mg/L,147.91 mg/L,162.18 mg/L and 177.83 mg/L,for Brachydanio rerio,42.66 mg/L,57.54 mg/L,77.62 mg/L,104.71 mg/L and 140.90 mg/L,for mice,183.60 mg/kg,293.75 mg/kg,470.00 mg/kg,752.00 mg/kg and 1 203.20 mg/kg.The data for 2th,4th and 7th day of treatment were collected for calculation of the 48h-EC50,the 96h-LC50 and the acute oral LD50 in Daphnia magna straus(Cladocera crustacea),Brachydanio rerio and mice.Results The maximal germicidal rate of THPS in indoor air was over 86%.At the concentration of 0.5% THPS,4 h reaction time,germicidal efficacy of THPS was optimal.The toxicity test indicated that the acute oral LD50 for mice was 492.72 mg/kg,the 48 h-EC50 for Daphnia magna straus(Cladocera crustacea)was 143.61 mg/L,the 96h-LC50 for Brachydanio rerio was 84.17mg/L.Conclusion The toxicity of THPS is low and can be used for indoor air disinfection with a good efficacy and the potential benefit for environment.