1.Colon Dialysis with Yishen Decoction Improves Autophagy Disorder in Intestinal Mucosal Epithelial Cells of Chronic Renal Failure by Regulating SIRT1 Pathway.
Yan-Jun FAN ; Jing-Ai FANG ; Su-Fen LI ; Ting LIU ; Wen-Yuan LIU ; Ya-Ling HU ; Rui-Hua WANG ; Hui LI ; Da-Lin SUN ; Guang ZHANG ; Zi-Yuan ZHANG
Chinese journal of integrative medicine 2025;31(10):899-907
OBJECTIVE:
To explore the mechanism of colon dialysis with Yishen Decoction (YS) in improving the autophagy disorder of intestinal epithelial cells in chronic renal failure (CRF) in vivo and in vitro.
METHODS:
Thirty male SD rats were randomly divided into normal, CRF, and colonic dialysis with YS groups by a random number table method (n=10). The CRF model was established by orally gavage of adenine 200 mg/(kg•d) for 4 weeks. CRF rats in the YS group were treated with colonic dialysis using YS 20 g/(kg•d) for 14 consecutive days. The serum creatinine (SCr) and urea nitrogen (BUN) levels were detected by enzyme-linked immunosorbent assay. Pathological changes of kidney and colon tissues were observed by hematoxylin and eosin staining. Autophagosome changes in colonic epithelial cells was observed with electron microscopy. In vitro experiments, human colon cancer epithelial cells (T84) were cultured and divided into normal, urea model (74U), YS colon dialysis, autophagy activator rapamycin (Ra), autophagy inhibitor 3-methyladenine (3-MA), and SIRT1 activator resveratrol (Re) groups. RT-PCR and Western blot were used to detect the mRNA and protein expressions of zonula occludens-1 (ZO-1), Claudin-1, silent information regulator sirtuin 1 (SIRT1), LC3, and Beclin-1 both in vitro and in vivo.
RESULTS:
Colonic dialysis with YS decreased SCr and BUN levels in CRF rats (P<0.05), and alleviated the pathological changes of renal and colon tissues. Expressions of SIRT1, ZO-1, Claudin-1, Beclin-1, and LC3II/I were increased in the YS group compared with the CRF group in vivo (P<0.05). In in vitro study, compared with normal group, the expressions of SIRT1, ZO-1, and Claudin-1 were decreased, and expressions of Beclin-1, and LC3II/I were increased in the 74U group (P<0.05). Compared with the 74U group, expressions of SIRT1, ZO-1, and Claudin-1 were increased, whereas Beclin-1, and LC3II/I were decreased in the YS group (P<0.05). The treatment of 3-MA and rapamycin regulated autophagy and the expression of SIRT1. SIRT1 activator intervention up-regulated autophagy as well as the expressions of ZO-1 and Claudin-1 compared with the 74U group (P<0.05).
CONCLUSION
Colonic dialysis with YS could improve autophagy disorder and repair CRF intestinal mucosal barrier injury by regulating SIRT1 expression in intestinal epithelial cells.
Animals
;
Sirtuin 1/metabolism*
;
Drugs, Chinese Herbal/therapeutic use*
;
Autophagy/drug effects*
;
Male
;
Intestinal Mucosa/drug effects*
;
Rats, Sprague-Dawley
;
Epithelial Cells/metabolism*
;
Colon/drug effects*
;
Humans
;
Kidney Failure, Chronic/drug therapy*
;
Signal Transduction/drug effects*
;
Renal Dialysis
;
Rats
;
Kidney/drug effects*
2.Retrospective analysis of characteristics of acute poisoning cases over eight years in a Tertiary Hospital in Jiangxi Province
Yang LI ; Fen LIU ; Rui XU ; Zhiqiang QIU ; Bo YANG ; Xiaolong LUO ; Haiquan WU ; Liang HUANG
Chinese Journal of Emergency Medicine 2024;33(9):1297-1301
Objective:To explore the epidemiology and clinical characteristics of hospitalized patients with acute poisoning at the First Affiliated Hospital of Nanchang University in Jiangxi Province.Methods:Based on the electronic medical records management platform of the First Affiliated Hospital of Nanchang University, a retrospective analysis was conducted on hospitalized patients with acute poisoning based on ICD-10 disease codes from 2014 to 2021. The gender, age, residence, poison type, etiology, route of exposure, illness severity, diagnostic and therapeutic processes, hospital stay duration, and prognosis of patients were collected.Results:A total of 1 953 cases of acute poisoning were included, comprising 871 males (44.6%) and 1 082 females (55.4%). The age was (42.7±20.0) years, with 113 fatalities (5.8%). Urban residents accounted for 706 cases (36.1%) and rural residents for 1 247 cases (63.9%). The highest incidence occurred in the 41-60 age group. Suicide was the primary cause, constituting 1 318 cases (67.5%), followed by accidental ingestion or contact, with overdose being less frequent. Oral poison way was the predominant route (1 681 cases, 86.1%), followed by inhalation and contact. Pesticide poisoning was the predominant type of poisoning in this study, with 847 cases (43.4%), followed by drug poisoning and foodborne poisoning. Pesticide poisoning predominated among rural residents (79.2%), while drug poisoning was more prevalent among urban residents (53.5%).Conclusions:In this study, patients with acute poisoning exhibited predominantly female gender, hailed from rural areas, and primary etiology of poisoning was pesticide ingestion for suicidal intent. Targeted education and control measures should be carried out for the above high-risk areas, populations and poisons.
3.Epidemiological and clinical characteristics of healthcare-associated infec-tion in neonates with different gestational ages and birth weights
Yan-Min LI ; Li-Li PING ; Xiao-Lei MA ; Yu-Qiao DIAO ; Shu-Fen ZHAI ; Rui-Min ZHANG
Chinese Journal of Infection Control 2024;23(9):1119-1125
Objective To understand the epidemiological and clinical characteristics of healthcare-associated infec-tion(HAI)in neonates with different gestational ages and birth weights,and provide guidance for personalized cli-nical diagnosis and treatment.Methods According to the inclusion and exclusion criteria,240 neonates with HAI in the neonatal intensive care unit(NICU)of a hospital in Handan City from January 2018 to December 2022 were selected as the study group,720 neonates without HAI were selected as the control group based on systematic sam-pling method with a ratio of 1∶3.The incidence of HAI,distribution characteristics of infection site,pathogenic features of HAI,as well as the effect of different delivery modes on HAI in neonates with different gestational ages and birth weights were analyzed.Results Neonates with gestational age<28 weeks and birth weight<1 000 g had the highest incidence of HAI,which were 19.48%and 20.41%,respectively.Among neonates with gestational age<28 weeks,unidentified site infection were the most(37.50%),while in all gestational age groups within 28-36+6 weeks,bloodstream infection(BSI)and respiratory system infection were predominant.For neonates with gestational age ≥37 weeks,BSI and unidentified site infection occurred frequently.Among neonates in all weight groups,BSI was the most frequent,followed by respiratory system infection.Pathogens from different sites of in-fections in neonates with different gestational ages and birth weights varied.Among neonates with gestational age of 28-31+6 weeks and birth weight of 1 000-1 499 g,the constituent of birth modes showed statistically significant difference between neonates with and without HAI(both P<0.05).Conclusion Epidemiological and clinical chara-cteristics of HAI in neonates with different gestational ages and birth weights are different.For the prevention and control of HAI,individualized diagnosis and treatment plans should be developed to achieve precise prevention and control,reduce the incidence of HAI,and improve the overall treatment level of neonates.
4.Regulation of Bifidobacterium-short chain fatty acid metabolism and improvement of intestinal toxicity of vinegar-processed Euphorbiae Pekinensis Radix.
Ling-Jun YE ; Xiao-Fen XU ; Sai-Ya CHEN ; Huan ZHANG ; Yi-Xuan GAN ; Tao MENG ; Rui DING ; Jing LI ; Gang CAO ; Kui-Long WANG
China Journal of Chinese Materia Medica 2024;49(23):6331-6341
To explore the mechanism by which vinegar-processed Euphorbiae Pekinensis Radix regulates gut microbiota and reduces intestinal toxicity, this study aimed to identify key microbial communities related to vinegar-induced detoxification and verify their functions. Using a derivatization method, the study measured the content of short-chain fatty acids(SCFAs) in feces before and after vinegar-processing of Euphorbiae Pekinensis Radix. Combined with the results of previous gut microbiota sequencing, correlation analysis was used to identify key microbial communities related to SCFAs content. Through single-bacterium transplantation experiments, the role of key microbial communities in regulating SCFAs metabolism and alleviating the intestinal toxicity of Euphorbiae Pekinensis Radix was clarified. Fecal extracts were then added to a co-culture system of Caco-2 and RAW264.7 cells, and toxicity differences were evaluated using intestinal tight junction proteins and inflammatory factors as indicators. Additionally, the application of a SCFAs receptor blocker helped confirm the role of SCFAs in reducing intestinal toxicity during vinegar-processing of Euphorbiae Pekinensis Radix. The results of this study indicated that vinegar-processing of Euphorbiae Pekinensis Radix improved the decline in SCFAs content caused by the raw material. Correlation analysis revealed that Bifidobacterium was positively correlated with the levels of acetic acid, propionic acid, isobutyric acid, n-butyric acid, isovaleric acid, and n-valeric acid. RESULTS:: from single-bacterium transplantation experiments demonstrated that Bifidobacterium could mitigate the reduction in SCFAs content induced by raw Euphorbiae Pekinensis Radix, enhance the expression of tight junction proteins, and reduce intestinal inflammation. Similarly, cell experiment results confirmed that fecal extracts from Bifidobacterium-transplanted mice alleviated inflammation and increased the expression of tight junction proteins in intestinal epithelial cells. The use of the free fatty acid receptor-2 inhibitor GLPG0974 verified that this improvement effect was related to the SCFAs pathway. This study demonstrates that Bifidobacterium is the key microbial community responsible for reducing intestinal toxicity in vinegar-processed Euphorbiae Pekinensis Radix. Vinegar-processing increases the abundance of Bifidobacterium, elevates the intestinal SCFAs content, inhibits intestinal inflammation, and enhances the expression of tight junction proteins, thereby improving the intestinal toxicity of Euphorbiae Pekinensis Radix.
Animals
;
Mice
;
Humans
;
Acetic Acid/chemistry*
;
Gastrointestinal Microbiome/drug effects*
;
Fatty Acids, Volatile/metabolism*
;
Bifidobacterium/genetics*
;
Caco-2 Cells
;
Intestines/microbiology*
;
Drugs, Chinese Herbal/chemistry*
;
Euphorbia/toxicity*
;
RAW 264.7 Cells
;
Male
;
Feces/chemistry*
;
Intestinal Mucosa/drug effects*
5.Postoperative subacute static progressive stretch does not increase the risk of distal lower limb venous thromboembolism.
Jun-Kun ZHU ; Feng-Feng WU ; Rui-Feng YANG ; Fen-Fen XU ; Ya-Li LIN ; Miao-Fang YE
Chinese Journal of Traumatology 2023;26(3):178-182
PURPOSE:
Static progressive stretch (SPS) can be applied to treat chronic joint stiffness. However, the impacts of subacute application of SPS to the distal lower limbs, where deep vein thrombosis (DVT) is common, on venous thromboembolism remain unclear. This study aims to explore the risk of venous thromboembolism events following subacute application of SPS.
METHODS:
A retrospective cohort study was conducted on patients diagnosed with DVT following a lower extremity orthopedic surgery before being transferred to the rehabilitation ward from May 2017 to May 2022. Patients with unilateral lower limb comminuted para-articular fractures, transferred to rehabilitation ward for further treatment within 3 weeks after operation, followed up more than 12 weeks since initial manual physiotherapy, and diagnosed DVT by ultrasound before rehabilitation course were included in the study. Patients with polytrauma, without evidence of previous peripheral vascular disease or incompetence, had medication for thrombosis treatment or prophylaxis before the operation, detected with paralysis due to nervous system impairment, infected after operation during the regime, or with acute progression of DVT were excluded. The included patients were randomized to the standard physiotherapy and the SPS integrated groups for observation. Associated DVT and pulmonary embolism data were collected during the physiotherapy course to compare the groups. SSPS 28.0 and GraphPad Prism 9 were used for data processing. A p < 0.05 was set significant difference.
RESULTS:
In total of 154 patients with DVT participating in this study, 75 of them were treated with additional SPS for postoperative rehabilitation. The participants in the SPS group showed improved range of motion (12.3° ± 6.7°). However, in the SPS group, there was no difference in thrombosis volume between the start and termination (p = 0.106, p = 0.787, respectively), although difference was seen intra-therapy (p < 0.001). Contingency analysis revealed the pulmonary embolism incidence (OR = 0.703) in the SPS group compared to the mean physiotherapy.
CONCLUSION
The SPS technique is a safe and reliable option to prevent potential joint stiffness without aggravating the risk of distal DVT for postoperative patients suffering from relevant trauma.
Humans
;
Venous Thromboembolism/prevention & control*
;
Venous Thrombosis/etiology*
;
Retrospective Studies
;
Pulmonary Embolism/complications*
;
Lower Extremity
;
Risk Factors
6.Screening status of neonatal fundus disease and its influencing factors in Longhua district, Shenzhen
Hui-Pin HUANG ; Rui-Fen SHEN ; Rui-Li KE
International Eye Science 2023;23(7):1211-1214
AIM: To analyze the screening status of neonatal fundus disease and the related influencing factors of common fundus retinal hemorrhage in Longhua District of Shenzhen, so as to provide references for the prevention, screening and intervention of neonatal fundus disease in clinical practice.METHODS: A total of 3 101 neonates who received fundus screening in the People's Hospital of Longhua, Shenzen from September 2019 to October 2022 were selected as research objects. The screening results were summarized, and the risk factors for neonatal retinal hemorrhage were analyzed by Logistic regression model.RESULTS: The detection rate of neonatal fundus abnormalities was 12.71%, and the detection rate of neonatal retinal hemorrhage was the highest(12.19%). The other types of fundus abnormalities included periretinal white focus, chromatosis, pigment shedding, choroid coloboma and nystagmus. Hemorrhage grade I accounted for the largest proportion of 378 neonates with retinal hemorrhage(75.66%). Follow-up found that different grades of retinal hemorrhage could be automatically absorbed over time without excessive intervention. Logistic analysis suggested that spontaneous delivery [OR=3.180, 95%CI(1.543~6.555)], twin pregnancy [OR=2.119, 95%CI(1.121~4.007)] and umbilical cord round the neck [OR=1.547, 95%CI(1.239~1.930)] were risk factors affecting neonatal retinal hemorrhage.CONCLUSION: Retinal hemorrhage is the most common type of fundus abnormalities in neonates. Spontaneous delivery, twin pregnancy and umbilical cord around the neck are risk factors of retinal hemorrhage. It is recommended that pay attention to the above factors and choose appropriate intervention means to avoid serious fundus complications.
7.Targeted metabolomic analysis of phenylpropanoid metabolites in Astragalus membranaceus var. mongholicus in response to Fusarium solani infection
Zi-qing ZHAO ; Hai-qing SONG ; Li-mei ZHAO ; Zhen-yu LI ; Rui-jie WU ; Fen GAO
Acta Pharmaceutica Sinica 2023;58(7):1859-1866
Root rot severely restricts the sustainable development of
8.Association between obesity with the diversity and genus of gut microbiota in school-aged children.
Lu Fang JIANG ; Ying Ying WANG ; Hui PENG ; Rui LI ; Fen ZHANG ; Na WANG ; Yue Qin SHAO ; Qing Wu JIANG
Chinese Journal of Epidemiology 2022;43(2):260-268
Objective: To analyze the diversity differences of gut microbiota between school-aged obese children and normal-weight children and identify the characteristic flora in obese children to provide some evidence for the subsequent study of the following study-related mechanisms and the prevention and treatment of obesity in school-aged children. Methods: This study was based on a cohort established in a primary school in Jiading district, Shanghai, 2016. Sixty-three children, including 43 boys and 20 girls, who were obese during the three years from 2016 to 2018, were enrolled in the obesity group. Among children who were average weight for three years, a total of 63 were selected as the control group, with matching with the obese ones in a 1 to 1 way according to age, sex and class. The primary characteristics, diet status, breastfeeding, and other information of children were collected by questionnaire. Fecal samples of participants in both groups were collected, and 16S rDNA sequencing was performed. Operable taxon units clustering according to 97% similarity and species annotation were based on the quality-optimized sequences. The difference in the diversity and genius of gut microbiota among children in the obesity and control groups were analyzed. The α diversity indices, including Ace, Chao1, Shannon, and Simpson index, were calculated. The β diversity was presented based on unweighted Unifrac distance and weighted Unifrac space by principal coordinate analysis. The differences in β diversity between the two groups were compared by similarity analysis (ANOSIM).The differences in genus distribution between the two groups were selected by STAMP software. The association of obesity with the α diversity and genus with significant differences were analyzed by the generalized linear model (GLM). Results: The Ace and Chao1 index in the obesity group was significantly lower than those in the control group (The P values were 0.026 and 0.039, respectively). There was no significant difference in Shannon and Simpson index between the two groups (The P values were 0.879 and 0.922, respectively). The results of ANOSIM showed differences in gut microbiota between the two groups (R>0), but the group contribution was not significant (unweighted Unifrac distance: R=0.006, P=0.223; weighted Unifrac distance: R=0.010, P=0.134). Among the obese group, the relative abundance of Prevotella and Sarcina was highest in the endemic genus. The STAMP results showed that the relative lots of 15 genera were significantly different between the two groups (P<0.05). The results of GLM showed that, compared with the control group, the obesity group had a lower level of the relative abundance in Akkermansia muciniphila, while a higher level in Coprococcus_3, Ruminococcus, Agathobacter and Collinsella. After stratification by sex, the Chao1 index was also lower in the obese boys than that in the normal-weight boys. However, the obese girls only had a higher level in Coprococcus_3 than the ordinary weight girls. Conclusions: Compared with children with average weight, obese children had lower α diversity of gut microbiota and lower relative abundance of dominant probiotics but had a higher relative lot of genus associated with metabolic disorders, inflammation promotion, and metabolism rate reduction.
Child
;
China/epidemiology*
;
Cohort Studies
;
Feces
;
Female
;
Gastrointestinal Microbiome/genetics*
;
Humans
;
Male
;
Pediatric Obesity/epidemiology*
9.Relationship between body mass index and sexual development in Chinese children.
Xiao Qin XU ; Jian Wei ZHANG ; Rui Min CHEN ; Jing Si LUO ; Shao Ke CHEN ; Rong Xiu ZHENG ; Di WU ; Min ZHU ; Chun Lin WANG ; Yan LIANG ; Hui YAO ; Hai Yan WEI ; Zhe SU ; Mireguli MAIMAITI ; Hong Wei DU ; Fei Hong LUO ; Pin LI ; Shu Ting SI ; Wei WU ; Ke HUANG ; Guan Ping DONG ; Yun Xian YU ; Jun Fen FU
Chinese Journal of Pediatrics 2022;60(4):311-316
Objective: To investigate the relationship between body mass index (BMI) and sexual development in Chinese children. Methods: A nationwide multicenter and population-based large cross-sectional study was conducted in 13 provinces, autonomous regions and municipalities of China from January 2017 to December 2018. Data on sex, age, height, weight were collected, BMI was calculated and sexual characteristics were analyzed. The subjects were divided into four groups based on age, including ages 3-<6 years, 6-<10 years, 10-<15 years and 15-<18 years. Multiple Logistic regression models were used for evaluating the associations of BMI with sexual development in children. Dichotomous Logistic regression was used to compare the differences in the distribution of early and non-early puberty among normal weight, overweight and obese groups. Curves were drawn to analyze the relationship between the percentage of early puberty and BMI distribution in girls and boys at different Tanner stages. Results: A total of 208 179 healthy children (96 471 girls and 111 708 boys) were enrolled in this study. The OR values of B2, B3 and B4+ in overweight girls were 1.72 (95%CI: 1.56-1.89), 3.19 (95%CI: 2.86-3.57), 7.14 (95%CI: 6.33-8.05) and in obese girls were 2.05 (95%CI: 1.88-2.24), 4.98 (95%CI: 4.49-5.53), 11.21 (95%CI: 9.98-12.59), respectively; while the OR values of G2, G3, G4+ in overweight boys were 1.27 (95%CI: 1.17-1.38), 1.52 (95%CI: 1.36-1.70), 1.88 (95%CI: 1.66-2.14) and in obese boys were 1.27 (95%CI: 1.17-1.37), 1.59 (95%CI: 1.43-1.78), and 1.93 (95%CI: 1.70-2.18) (compared with normal weight Tanner 1 group,all P<0.01). Analysis in different age groups found that OR values of obese girls at B2 stage and boys at G2 stage were 2.02 (95%CI: 1.06-3.86) and 2.32 (95%CI:1.05-5.12) in preschool children aged 3-<6 years, respectively (both P<0.05). And in the age group of 6-10 years, overweight girls had a 5.45-fold risk and obese girls had a 12.54-fold risk of B3 stage compared to girls with normal BMI. Compared with normal weight children, the risk of early puberty was 2.67 times higher in overweight girls, 3.63 times higher in obese girls, and 1.22 times higher in overweight boys, 1.35 times higher in obese boys (all P<0.01). Among the children at each Tanner stages, the percentage of early puberty increased with the increase of BMI, from 5.7% (80/1 397), 16.1% (48/299), 13.8% (27/195) to 25.7% (198/769), 65.1% (209/321), 65.4% (157/240) in girls aged 8-<9, 10-<11 and 11-<12 years, and 6.6% (34/513), 18.7% (51/273), 21.6% (57/264) to 13.3% (96/722), 46.4% (140/302), 47.5% (105/221) in boys aged 9-<10, 12-<13 and 13-<14 years, respectively. Conclusions: BMI is positively correlated with sexual development in both Chinese boys and girls, and the correlation is stronger in girls. Obesity is a risk factor for precocious puberty in preschool children aged 3-<6 years, and 6-<10 years of age is a high risk period for early development in obese girls.
Adolescent
;
Body Mass Index
;
Child
;
Child, Preschool
;
China/epidemiology*
;
Cross-Sectional Studies
;
Female
;
Humans
;
Male
;
Obesity/epidemiology*
;
Overweight/epidemiology*
;
Puberty
;
Puberty, Precocious
;
Sexual Development
10.Phenotypes and ATP7B gene variants in 316 children with Wilson disease.
Zhi Kun LU ; Jing CHENG ; Si Min LI ; Yun Ting LIN ; Wen ZHANG ; Xiu Zhen LI ; Hui Ying SHENG ; Xiao Jian MAO ; Hui Fen MEI ; Rui Dan ZHENG ; Cui Li LIANG ; Min Yan JIANG ; Yong Lan HUANG ; Li LIU ; Chun Hua ZENG
Chinese Journal of Pediatrics 2022;60(4):317-322
Objectives: To summarize the clinical phenotypes and the variation spectrum of ATP7B gene in Chinese children with Wilson's disease (WD) and to investigate their significance for early diagnosis. Methods: Retrospective analysis was performed on the clinical data of 316 children diagnosed as WD in Guangzhou Women and Children's Medical Center during the period from January 2010 to June 2021. The general situations, clinical manifestations, lab test results, imaging examinations, and ATP7B gene variant characteristics were collected. The patients were divided into asymptomatic WD group and symptomatic WD group based on the presence or absence of clinical symptoms at the time that WD diagnosis was made. The χ2 test, t test or Mann-Whitney U test were used to compare the differences between groups. Results: Among the 316 children with WD, 199 were males and 117 were females, with the age of 5.4 (4.0, 7.6) years at diagnosis; 261 cases (82.6%) were asymptomatic with the age of 4.9 (3.9, 6.4) years; whereas 55 cases (17.4%) were symptomatic with the age of 9.6 (7.3, 12.0) years. The main symptoms invloved liver, kidney, nervous system, or skin damage. Of all the patients, 95.9% (303/316) had abnormal liver function at diagnosis; 98.1% (310/316) had the serum ceruloplasmin lever lower than 200 mg/L; 97.7% (302/309) had 24-hour urine copper content exceeding 40 μg; only 7.4% (23/310) had positive corneal K-F rings, 8.2% (23/281) had abnormal MRI signals in the lenticular nucleus, and all of them had symptoms of damage in liver, kidney or nervous system. Compared with the group of symptomatic WD, asymptomatic group had higher levels of serum alanine aminotransferase and lower levels ceruloplasmin and 24-hour urine copper [(208±137) vs. (72±78) U/L, (55±47) vs. (69±48) mg/L, 103 (72, 153) vs. 492 (230, 1 432) μg; t=9.98, -1.98, Z=-4.89, all P<0.001]. Among the 314 patients completing genetic sequencing, a total of 107 mutations in ATP7B gene were detected, of which 10 are novel variants, and 3 cases (1.0%) had large heterozygous deletion (exons 10 to exon 11) in ATP7B gene. The percentage of missense mutation in asymptomatic WD children was significantly higher than that in symptomatic WD (81.5% (422/518) vs. 69.1% (76/110), χ²=8.47, P<0.05). WD patients carrying homozygous variant of c.2 333G>T had significantly low levels of ceruloplasmin than those not carrying this variant ((23±5) vs. (61±48) mg/L, t=-2.34, P<0.001). Conclusions: The elevation of serum ALT is an important clue for early diagnosis of WD in children, while serum ceruloplasmin and 24-hour urine copper content are specific markers for early diagnosis of WD. In order to confirm the diagnosis of WD, it is necessary to combine the Sanger sequencing with multiplex ligation-dependent probe amplification or other testing technologies.
Ceruloplasmin/metabolism*
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Child
;
Child, Preschool
;
Copper/metabolism*
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Copper-Transporting ATPases/genetics*
;
Female
;
Hepatolenticular Degeneration/genetics*
;
Humans
;
Male
;
Mutation
;
Phenotype
;
Retrospective Studies

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