Fabry disease, a rare genetic disorder affecting multiple organs, has understudied correlations among enzyme activity, genotype, and clinical manifestations in patients of different sexes with classical and late-onset phenotypes. In this study, clinical data, α-Gal A activity, and GLA gene test results of 311 patients, who were categorized by classical and late-onset phenotypes, ⩽5% and > 5% of the normal mean value of enzyme activity, and truncated and nontruncated mutation groups, were collected. The common clinical manifestations of Fabry disease included acroparesthesia, hypohidrosis/anhidrosis, neuropsychiatric system, and renal and cardiovascular involvement. Multiorgan involvement was higher in males and classical phenotype patients. In both sexes, classical patients commonly presented with acroparesthesia and multiorgan involvement, whereas late-onset patients showed renal, neuropsychiatric, and cardiovascular involvement. Male and classical patients had lower enzyme activity than female and late-onset patients, respectively. Classical males with enzyme activity of ⩽5% of the normal mean level showed higher multiorgan involvement frequency than those with enzyme activity of > 5%, whereas no significant difference was observed among females. Ninety-five gene mutation sites were detected, with significant phenotype heterogeneity in patients with the same mutation. No significant difference in enzyme activity or clinical manifestations was observed between truncated and nontruncated mutations. Overall, male patients with Fabry disease, regardless of classical or late-onset phenotype, have a higher frequency of multiple-organ involvement and lower α-Gal A activity than female patients. α-Gal A activity was closely correlated with clinical symptoms in males but weakly correlated with clinical manifestations in females. The clinical manifestations of patients with the same mutation are heterogeneous, and the correlation between gene mutation and enzyme activity or clinical manifestation is weak.
Adolescent ; Adult ; Aged ; Female ; Humans ; Male ; Middle Aged ; Young Adult ; Age of Onset ; alpha-Galactosidase/metabolism* ; China ; Fabry Disease/enzymology* ; Genotype ; Mutation ; Phenotype ; Sex Factors ; East Asian People/genetics*

Objective:To analyze the correlation between paraspinal muscle parameters and the angle of degenerative thoracolumbar segmental kyphosis.Methods:From November 2021 to April 2023, a total of 90 female patients with lumbar degenerative disease who underwent surgical treatment in the Department of Spine Surgery, Beijing Jishuitan Hospital were retrospectively analyzed. The average age was 67.62±4.98 years (range, 60-80 years), and the average height was 1.58±0.05 m (range, 1.48-1.70 m). Weight 63.79±9.13 kg (range, 47-90 kg), body mass index 25.48±3.35 kg/m 2 (range, 18.37-36.05 kg/m 2). The angle of kyphosis of the thoracolumbar segments was 6.65°±10.38° (range, -17.34° to 9.34°). Disease diagnosis: 32 cases of lumbar disc herniation and 58 cases of lumbar spinal stenosis. Frontal and lateral radiographs of the thoracolumbar segments in the standing position were taken to measure the angle of kyphosis of the thoracolumbar segments; quantitative CT of the thoracolumbar segments and Osirix software were used to measure the parameters of the paravertebral muscles at the levels of T 12, L 3, and L 5, including paravertebral muscle cross-sectional area, skeletal muscle area, and tissue density, the proportion of fat infiltration, and the height-corrected skeletal muscle area index. The correlation between paraspinal muscle parameters and the angle of thoracolumbar segmental kyphosis was analyzed, and the factors affecting the angle of thoracolumbar segmental kyphosis were analyzed using multiple linear regression. Results:Correlation analysis showed a negative correlation between the angle of thoracolumbar segmental kyphosis and the tissue density of T 12 skeletal muscle ( r=-0.303, P=0.004) and L 5 skeletal muscle ( r=-0.219, P=0.038). Age was negatively correlated with T 12 skeletal muscle tissue density ( r=-0.263, P=0.012), T 12 height-corrected skeletal muscle area index ( r=-0.221, P=0.036), T 12 paravertebral muscle cross-sectional area ( r=-0.280, P=0.007), L 3 skeletal muscle tissue density ( r=-0.266, P=0.011) and L 5 skeletal muscle tissue density ( r=-0.290, P=0.006). There was no correlation between bone mineral density and paravertebral muscle parameters ( P>0.05). Multiple linear regression showed that T 12 skeletal muscle tissue density ( β=-1.125, P<0.001), T 12 fat-infiltrated proportion ( β=-0.849, P=0.001), L 3 skeletal muscle tissue density ( β=0.996, P<0.001), and L 3 fat-infiltrated proportion ( β=0.496, P=0.020) were independent factors influencing the angle of thoracolumbar segmental kyphosis . Conclusion:T 12 and L 3 paraspinal muscle density and fat-infiltrated proportion are independent factors affecting the angle of thoracolumbar kyphosis. The smaller the density and fat-infiltrated proportion of T 12 paraspinal muscle, and the larger the density and fat-infiltrated proportion of L 3 paraspinal muscle, the larger the angle of thoracolumbar kyphosis.

Objective To investigate the effects of MCSO on physiological behavior and antioxidant index in D.melanogaster.Methods One-day-old wild type D.melanogaster was divided into control group,0.25％,0.5％,1％,2％and 4％dose groups,as well as male and female groups.The control group was exposed to the base medium,and each dose group was exposed to the MCSO medium added with 0.25％,0.5％,1％,2％and 4％concentrations,respectively.The optimal dosage concentration and time of administration were investigated by climbing experiment.Then the flies were divided into control group,model group and MCSO group.The model group was established by depriving the flies of sleep through repeated nocturnal light stimulation.Period of drug treatment,appetite test,negative geotaxis ability test,stress test,olfactory memory test,and sleep-wake rhythm detection were used to explore the effects of MCSO on their physiological behavior.The activities of super oxidase dismutase(SOD),catalase(CAT),and malondialdehyde(MDA)were detected by enzyme-linked immunosorbent assay.Results MCSO enhanced the locomotory ability of 30-day-old D.melanogaster(P＜0.01),increased the activity of SOD and CAT(P＜0.01),and decreased the concentration of MDA(P＜0.01).Improve olfactory memory of senile fruit flies.After sleep deprivation,the night sleep time of female Drosophila model group was reduced(P＜0.05),and that of male Drosophila model group was reduced(P＜0.01).After feeding MCSO,the night sleep time of female drosophila model group was extended(P＜0.05),and that of male drosophila model group was extended(P＜0.01).Conclusions MCSO had a certain antioxidant effect,prolonging the sleep time and improving the olfactory memory of sleep-deprived Drosophila.

Zi goose is a small local variety with high fecundity,good meat quality,roughage resist-ance,strong adaptability and excellent down quality.It is an excellent female parent for cross breeding among varieties.With the rapid development of goose industry,the variety of Zi goose has not been well protected,the variety is hybrid and degraded seriously,and the number of pure Zi goose is decreasing day by day.This paper reviewed the research progress on the breeding distribu-tion and preservation status of Zi goose and the variety characteristics of Zi goose,in order to pro-vide reference for the research,protection and utilization of germplasm resources of Zi goose and the stable development of goose industry.

Background/Aims: Anti-phospholipase A2 receptor (PLA2R) autoantibody is the main biomarker of idiopathic membranous nephropathy (IMN). We aimed to find a new cutoff value of anti-PLA2R for patients with IMN and to explore the relevance between this antibody and baseline clinical parameters. Methods: A total of 670 subjects including 374 IMN cases and 296 non-IMN controls were included between January 2017 and January 2020. All clinical parameters were collected at the time of renal biopsy. The levels of anti-PLA2R were detected by a commercial enzyme-linked immunosorbent assay (ELISA) kit. The optimal cutoff value was calculated by a receiver operating characteristic curve and compared in diagnostic efficiency. Results: The optimal cutoff value of anti-PLA2R for IMN was 7.45 RU/mL with the highest Youden index, and the corresponding sensitivity, specificity, positive predictive value and negative predictive value were 80.75%, 97.97%, 98.05% and 80.11%, respectively. Anti-PLA2R levels in IMN patients demonstrated a significant positive correlation with serum creatinine and 24-hour urinary protein, while they showed a negative correlation with serum albumin and estimated glomerular filtration rate. Conclusions The recommended cutoff value of anti-PLA2R is 7.45 RU/mL using ELISA detection for distinguishing IMN from non-IMN nephropathy. The level of anti-PLA2R is related to baseline renal function in IMN. This new threshold can improve the diagnostic efficiency and facilitate early diagnosis of IMN.

Objective:To evaluate the systemic absorption and safety of multiple doses of topical tazarotene/betamethasone dipropionate cream in healthy subjects and patients with psoriasis.Methods:From September 2008 to April 2009, 12 healthy subjects collected from Hospital for Skin Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College were randomly and equally divided into tazarotene 0.15%/betamethasone dipropionate 0.15% cream group and tazarotene 0.2%/betamethasone dipropionate 0.2% cream group; these subjects were instructed to apply 0.03 g of the test drug per day on each of the 4 body sites, including the flexor aspects of bilateral forearms, waist and back, for 7 consecutive days, and venous blood samples were obtained before, and 1, 3, 5 and 7 days after the start of drug application. From October 2010 to August 2011, 60 patients with non-cephalic psoriasis collected from the Hospital for Skin Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College were randomly divided into 3 groups at a ratio of 3∶1∶1, i.e., tazarotene 0.05%/betamethasone dipropionate 0.05% cream group ( n = 36) and tazarotene 0.05% gel group ( n = 12) topically treated with a cream vehicle in the morning and the test drug at night, and betamethasone dipropionate 0.05% cream group ( n = 12) topically treated with the test drug twice a day (once in the morning and again in the evening) ; the treatment lasted 6 consecutive weeks, and venous blood samples were collected before, and 2, 4 and 6 weeks after drug application. Liquid chromatography-tandem mass spectrometry was performed to determine the concentrations of tazarotenic acid and betamethasone in plasma. During the trial, adverse events in the subjects were recorded, routine blood and urine examinations were carried out, and liver and kidney function were evaluated before and after treatment. Results:The plasma concentrations of tazarotenic acid and betamethasone in the 12 healthy subjects were below the lower limit of quantitation (0.04 μg/L) after 1-, 3-, 5- and 7-day treatment. After the consecutive treatment, tazarotenic acid and betamethasone were detected in 2 (5.56%) and 4 (11.11%) patients respectively at week 2, 4 or 6 in the tazarotene 0.05%/betamethasone dipropionate 0.05% cream group, and the highest plasma concentrations of tazarotenic acid and betamethasone were 0.112 and 0.201 μg/L respectively; in the betamethasone dipropionate 0.05% cream group, betamethasone was detected in 2 of 12 patients, and the highest plasma concentration of betamethasone was 0.112 μg/L. No test drug-related systemic adverse reactions or laboratory abnormalities were observed in any of the healthy subjects or patients.Conclusion:Multiple doses of topical tazarotene/betamethasone dipropionate cream has advantages of little systemic absorption, no long-term accumulation and good systemic safety.

Objective To investigate the prevalence of skin diseases in pre-school children aged 0-7 years in cities of China.Methods From November 2014 to April 2015,12 cities were chosen as survey spots,and pre-school children aged 0-7 years served as respondents.A population-based study was conducted,and 40 vaccination clinics and 80 kindergartens were selected by stratified random sampling.A questionnaire survey and dermatological examination were performed by trained dermatologists.Results A total of 20 033 pre-school children received questionnaires,whose age was 2.41 ± 1.82 years (range,0.08-6.83 years).Among these respondents,7 823 children were found to have skin diseases,with the total prevalence of skin diseases being 39.05％ (7 823/20 033).Additionally,the prevalence of skin diseases reported in the 12 cities from high to low was as follows:66.96％ (612/914,Dalian),56.73％ (2 310/4 072,Shanghai),55.49％ (556/1 002,Wuhan),49.18％ (390/793,Taiyuan),47.16％ (316/670,Chengdu),41.93 ％ (566/1 350,Nanjing),41.03％ (318/775,Chongqing),35.98％ (240/667,Hefei),33.87％ (677/1999,Shenzhen),31.37％ (554/1 766,Changsha),23.52％ (1 107/4 706,Beijing),13.42％ (177/1 319,Shenyang).Totally,40 kinds of skin diseases were investigated,and the 10 most common skin diseases were eczema/infantile eczema/atopic dermatitis (18.71％,3 749/20 033),ichthyosis vulgaris(6.25％,1 253/20 033),lichen pilaris (5.73％,1 148/20 033),diaper dermatitis (5.29％,1 059/20 033),papular urticaria(5.25％,1 052/20 033),hemangioma/vascular malformation (3.86％,774/20 033),pityriasis alba (3.45％,691/20 033),infectious skin diseases (2.59％,519/20 033),urticaria(1.71％,344/20 033)and contact dermatitis (0.5％,100/20 033).Conclusion The total prevalence of skin diseases among pre-school children in cities of China is 39.05％,and eczema/atopic dermatitis is the most common skin disease.

Nine patients with maxillofacial fracture that received intraoperative CT examination in Lanzhou General Hospital of Lanzhou Military Command from January 2017 to March 2017 were retrospectively studied. The procedure of intraoperative CT was introduced. The value of this technique was preliminarily discussed in order to provide a new method for the accurate implementation of maxillofacial fracture surgery.

Objective To investigate the effect of calcitonin gene-related peptide ( CGRP ) in inducing os-teogenic differentiation of rat precartilaginous stem cells in vitro and the underlying mechanisms. Methods Rat pre-cartilaginous stem cells ( PSCs) were cultured in complete osteogenesis medium containing DMEM/F-12 medium and different concentrations (0, 10-8,10-9,10-10mol/L) of CGRP, the morphology changes of PSCs were observed. The proliferation of PSCs was examined at different time points by CCK-8. All the PSCs were then randomly assigned to an experimental group and a control group. The PSCs in the experimental group were cultured in complete osteogenesis medium with 10-10 mol/L CGRP , while the control group cultured merely in complete osteogenesis medium was re-ceived no special intervention. Both groups were stained by Alizarin Red and the expression of alkaline phosphatase (ALP) was detected. The osteogenic genes (RUNX2,OPN and BGP) were measured by use of RT-PCR. The activa-tion of Wnt/β-catenin signaling pathway was tested by using Western blotting to evaluate the effect of CGRP . Results Compared to the control group ( the concentration of CGRP was 0 mol/L) , the concentration of ALP was significantly higher in the experimental group, calcium deposition was significantly more obvious, and the expression of the osteogenic genes such as RUNX2,OPN and BGP as well as theβ-catenin protein expression were up-regulated significantly. However, CGRP had no effect on cell proliferation. Conclusion CGRP activated Wnt/β-catenin sig-nal pathway and induced osteogenic differentiation of precartilaginous stem cells.

Objective To compare the analgesia effect of transversus abdominis plane(TAP) block and caudal block after radical surgery of Hirschsprung’s disease.Methods Sixty pediatric pa-tients,52 males,8 females,aged 1-3 yr,of ASA physical status Ⅰ or Ⅱ,scheduled for elective rad-ical surgery on Hirschsprung’s disease,were equally randomized into TAP block group(group TAP) and caudal block group (group CA).0.2% ropivacaine 1 ml/kg was used in both blocks.FLAAC scores were measured at 6,12,18 and 24 h after surgery.The requirement of sufentanil every 6 h, the first passage of flatus,the time of removing urine tube and the incidence of nausea and vomiting within 24 hours were recorded.Results Compared with group TAP,FLAAC scores and the require-ment of sufentanil were significantly decreased at 6 h after operation in group CA(P <0.05).FLAAC scores and the requirement of sufentanil were similar at 12,18 and 24 h in the two groups.The first passage of flatus,the time of removing urine tube in group TAP were significantly shorter than group CA(P < 0.05 ).The incidence of nausea and vomiting were not significantly different in the two groups.Conclusion Although both TAP block and caudal block can provide effective analgesia for the pediatric patients after radical surgery on Hirschsprung’s disease,caudal block provided superior anal-gesia at early stage after operation,however,TAP block is more beneficial for earlier recovery of bowl function.