1.Clinical features and immunotherapy for children with loss-of-function/gain-of-function mutations in the STAT gene: an analysis of 10 cases.
Hong-Wei LI ; Yan-Hong WANG ; Shang-Zhi WU ; Bi-Yun ZHANG ; Shi-Hui XU ; Jia-Xing XU ; Zhan-Hang HUANG ; Cheng-Yu LU ; De-Hui CHEN
Chinese Journal of Contemporary Pediatrics 2025;27(8):951-958
OBJECTIVES:
To investigate the clinical features of children with STAT gene mutations, and to explore corresponding immunotherapy strategies.
METHODS:
A retrospective analysis was performed for the clinical data of 10 children with STAT gene mutations who were admitted to the Department of Pediatrics of the First Affiliated Hospital of Guangzhou Medical University, from October 2015 to October 2024. Exploratory immunotherapy was implemented in some refractory cases, and the changes in symptoms, imaging manifestations, and cytokine levels were assessed after treatment.
RESULTS:
For the 10 children, the main clinical manifestations were recurrent rash since birth (7/10), cough (8/10), wheezing (5/10), expectoration (4/10), and purulent nasal discharge (4/10). Genotyping results showed that there was one child with heterozygous loss-of-function (LOF) mutation in the STAT1 gene, four children with heterozygous LOF mutation in the STAT3 gene, and five children with heterozygous gain-of-function (GOF) mutation in the STAT3 gene. Two children with LOF mutation in the STAT3 gene showed decreased interleukin-6 levels and improved clinical symptoms and imaging findings after omalizumab treatment. Three children with GOF mutation in the STAT3 gene achieved effective disease control after treatment with methylprednisolone (0.5 mg/kg per day). Two children with GOF mutation in the STAT3 gene received treatment with JAK inhibitor and then showed some improvement in symptoms.
CONCLUSIONS
STAT gene mutation screening should be considered for children with recurrent rash and purulent respiratory tract infections. Targeted immunotherapy may improve prognosis in patients with no response to conventional treatment.
Humans
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Male
;
Immunotherapy
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Female
;
Child, Preschool
;
Child
;
Gain of Function Mutation
;
Retrospective Studies
;
Infant
;
Loss of Function Mutation
;
STAT Transcription Factors/genetics*
2.Ultrasound-guided suprascapular nerve block combined with acupuncture for the treatment of calcified tendinitis of rotator cuff.
Ying-Zhi LI ; Hai-Chi YU ; Rong-Hang LI ; Jie MENG ; Zhen-de JIANG ; Xiao-Ming DONG ; Hai-Yu CHEN ; Ling GAO ; Xue WANG ; Yun-Ting ZHAO ; Wei ZHANG ; Xiao-Ning LIU
China Journal of Orthopaedics and Traumatology 2019;32(6):504-507
OBJECTIVE:
To explore the method and effect of ultrasound-guided suprascapular nerve block combined with acupuncture in the treatment of calcified tendinitis of rotator cuff.
METHODS:
From January 2015 to December 2017, total 30 patients with calcified tendinitis, including 23 cases of supraspinatus tendon, 5 cases of infraspinatus tendon and 2 cases of subscapular tendon, were treated with ultrasound-guided suprascapular nerve block combined with acupuncture. There were 7 males and 23 females, ranging in age from 36 to 71 years old, with an average of 51.6 years old. There were 17 cases on the right and 13 cases on the left. VAS pain score, Constant-murley score, UCLA score and X-ray examination were used to evaluate the clinical results before and after surgery.
RESULTS:
The mean follow-up was 14.3 months (6 to 30 months). The preoperative VAS score was 3.82±1.13, Constant-Murley score was 36.91±7.95 and UCLA score was 11.35±2.17. The final follow-up scores were 1.32±1.06, 90.61±2.89 and 33.22±1.51, respectively. The final follow-up scores were improved significantly(<0.05).
CONCLUSIONS
Conservative treatment of calcified rotator cuff tendinitis is ineffective. Suprascapular nerve block guided by ultrasound combined with acupuncture has a good therapeutic effect. It is a minimally invasive, economic, safe and effective method, which is worth promoting.
Acupuncture Therapy
;
Adult
;
Aged
;
Arthroscopy
;
Female
;
Humans
;
Male
;
Middle Aged
;
Nerve Block
;
Rotator Cuff
;
Rotator Cuff Injuries
;
Tendinopathy
;
therapy
;
Treatment Outcome
3.Methylation Status of Transcriptional Modulatory Genes Associated with Colorectal Cancer in Northeast China.
Han Lu GAO ; Xuan WANG ; Hong Ru SUN ; Jun De ZHOU ; Shang Qun LIN ; Yu Hang XING ; Lin ZHU ; Hai Bo ZHOU ; Ya Shuang ZHAO ; Qiang CHI ; Yu Peng LIU
Gut and Liver 2018;12(2):173-182
BACKGROUND/AIMS: Methylation status plays a causal role in carcinogenesis in targeted tissues. However, the relationship between the DNA methylation status of multiple genes in blood leukocytes and colorectal cancer (CRC) susceptibility as well as interactions between dietary factors and CRC risks are unclear. METHODS: We performed a case-control study with 466 CRC patients and 507 cancer-free controls to investigate the association among the methylation status of individual genes, multiple CpG site methylation (MCSM), multiple CpG site heterogeneous methylation and CRC susceptibility. Peripheral blood DNA methylation levels were detected by performing methylation-sensitive high-resolution melting. RESULTS: Total heterogeneous methylation of CA10 and WT1 conferred a significantly higher risk of CRC (adjusted odds ratio [OR(adjusted)], 5.445; 95% confidence interval [CI], 3.075 to 9.643; OR(adjusted), 1.831; 95% CI, 1.100 to 3.047; respectively). Subjects with high-level MCSM (MCSM-H) status demonstrated a higher risk of CRC (OR(adjusted), 4.318; 95% CI, 1.529 to 12.197). Additionally, interactions between the high-level intake of fruit and CRH, WT1, and MCSM on CRC were statistically significant. CONCLUSIONS: The gene methylation status of blood leukocytes may be associated with CRC risk. MCSM-H of blood leukocytes was associated with CRC, especially in younger people. Some dietary factors may affect hypermethylation status and influence susceptibility to CRC.
Carcinogenesis
;
Case-Control Studies
;
China*
;
Colorectal Neoplasms*
;
DNA Methylation
;
Freezing
;
Fruit
;
Humans
;
Leukocytes
;
Methylation*
;
Odds Ratio
4.Immunochromatographic Assay for Maximal Residual Limit-based Multiple Quantitative Determination of Triazophos in Agro Products
Hang GONG ; Bei-Bei LIU ; Pan LI ; Dan HE ; Yi-Rong GUO ; Li-Min WANG ; Xiu-De HUA ; Ming-Hua WANG ; Feng-Quan LIU ; Zheng-Lin XU ; Cun-Zheng ZHANG ; Li WANG
Chinese Journal of Analytical Chemistry 2018;46(6):938-946
A novel immunochromatographic assay was developed, which could provide visual evidence of triazophos in agro products, and also could directly identify the safety status by setting visual cut-off limit of detection in maximal residual limit ( MRL) value. Three test lines ( T1, T2, T3) were applied to the nitrocellulose membrane with different concentrations of Triazophos-OVA, and one control line (C) was settled with goat anti mouse IgG antibody. Thereafter, by combining with conjugate pad which immobilized monoclonal antibody labeled with 20 nm Colloidal gold particles, absorbent pad and PVC plate, a chromatographic test strip was assembled. With optimization of sample extraction and solvents selection, the test strips were employed for the determination of triazophos in rice, cabbage and apple. The results revealed that the cut-off limit of detection could reach 0. 005, 0. 01 and 0. 02 μg / mL represented by test line T3, T2 and T1, respectively. After modification, the cut-off limit of detection was resettled to 0. 05, 0. 1 and 0. 2 μg / mL according to the MRL values which enforced by the national standard of GB2763. Using acetonitrile for the sample extraction, the extracts were diluted 10 times or solvent exchanged with equivalent volume by PBS solution, and then tested by strips descripted above mentioned. The two test strips could precisely identified the safety status of agro product with MRL as threshold within 8-12 min. Furthermore, the residues value of triazophos could be quantified by the multiple quantitative test lines. Parallel GC data indicated that the strip had no false negative. This MRL-based multiple quantitative triazophos detection strip would provide a simple, direct, accurate and the most intuitionistic performance for the evaluation of agro product safety.
5.Evaluation of implementation effect of schistosomiasis control program in Jiangsu Province from 2010 to 2015
Liang SHI ; Jian-Feng ZHANG ; Yi-Xin HUANG ; De-Rong HANG ; Jie MIN ; Jun GE ; Chao-Yong XIE ; Lian-Heng ZHANG ; Lin WANG ; Yin-Ping ZUO ; Jing ZHOU ; Xuan ZHANG ; Yi-Qing XIE ; Bo-Chao SUN ; Gui-Sheng DING ; Jian-Feng CHEN ; Dao-Kuan SUN ; Wei LI ; Kun YANG
Chinese Journal of Schistosomiasis Control 2018;30(6):615-618
Objective To evaluate the actual effect of the schistosomiasis control program in Jiangsu Province from 2010 to 2015. Methods A total of 67 schistosomiasis-endemic counties in 10 cities were selected, and a combination of retrospective investigation and on-site investigation was adopted to collect and record the epidemic data of the counties from 2010 to 2015, and a retrospective survey database of epidemic situation was established. The effects of integrated control strategies with both Oncomelania hupensis snail control and infection source control were evaluated. Results From 2010 to 2015, 2 465 911 persons who lived in endemic areas were detected for schistosomiasis, with 16 974 positive cases of blood examinations, and 8 positive cases of fecal examinations. Totally 5 145 people with advanced schistosomiasis were treated and 40 460 people with the history of schistosome cercarial-infested water contact received the expanded chemotherapy. A total of 127 636 cattle raised in the endemic areas were detected, and 51 619 cattle (head-times) with the history of cercarial-infested water contact also received the expanded chemotherapy. The area with snails control by molluscicides was 18 604.84 hm2. By the end of 2015, schistosomeinfected snails had not been found and there was no zoological schistosome infection for 5 consecutive years, and in addition, there had been no acute schistosome-infected persons for 6 consecutive years in the whole province. The area with snails dropped to 1 977.18 hm2, with a decreasing rate of 55.24% compared with that in 2010. Conclusion After the implementation of the plan for the prevention and control of schistosomiasis in Jiangsu Province (2010–2015), the prevention and control of schistosomiasis has achieved remarkable effects and realized the goal of the plan.
6.A new cytotoxic alkaloid from roots of Alangium chinense.
Huan-Huan XING ; Kun ZHOU ; Yan YANG ; Ling ZHOU ; Wei DONG ; Yue-de WANG ; Hang-Ying MA ; Min ZHOU ; Yan-Qing YE ; Qiu-Fen HU
China Journal of Chinese Materia Medica 2017;42(2):303-306
We have carried out the chemical investigation on the roots of Alangium chinense. The chemical constituents from the roots of A.chinense were isolated and purified by various chromatographic techniques, such as silica gel, MCI-Gel resin, Sephadex LH-20 and high performance liquid chromatography. As a result, three alkaloids (1-3) were isolated from 90% EtOH extracts of the roots of this plant. Their structures were elucidated by physical-chemical properties and spectral data. Among them, compound 1 is a new compound, determined as 8-hydroxy-3-hydroxymethyl-6,9-dimethyl-7H-benzo[de]isoquinolin-7-one. Cytotoxicity of the compounds was evaluated by the MTT method. Compound 1 displayed cytotoxicity against NB4, A-549, SHSY5Y, PC-3 and MCF-7 cell lines with IC₅₀ values of 4.2, 3.5, 5.7, 2.8 and 3.9 μmol•L⁻¹, respectively.
7.A new sesquiterpene from seeds of Cassia occidentalis and its cytotoxicity.
Yan YANG ; Yue-de WANG ; Huan-Huan XING ; Hang-Ying MA ; Ling ZHOU ; Wei DONG ; Kun ZHOU ; Min ZHOU ; Yan-Qing YE ; Qiu-Fen HU
China Journal of Chinese Materia Medica 2016;41(17):3256-3259
For the purpose of finding new bioactive agents from ethnic medicines, the chemical study on Dai Medicine Cassia occidentalis was carried out. The chemical constituents from the seeds of C. occidentalis were isolated by column chromatographic methods on silica gel, MCI-Gel resin, Sephadex LH-20, and high performance liquid chromatography. Their structures were elucidated by spectroscopic methods, including extensive 1D and 2D NMR techniques. The cytotoxicity of the compound for NB4, A549, SHSY5Y, PC3, and MCF7 cells line was also assayed by using the MTT method. Two sesquiterpenes (1 and 2) were isolated from this plant. Compound 1 is a new compound and named as methyl 6-(hydroxymethyl)-4-isopropyl-7-methoxynaphthalene-1-carboxylate. Compound 1 also displayed high cytotoxicity with the tested cancer cell-lines.
8.A new furan-2-carboxylic acid from stem bark of Cassia alata.
Ling ZHOU ; Wei DONG ; Yue-de WANG ; Kun ZHOU ; Hang-Ying MA ; Yan YANG ; Huan-Huan XING ; Min ZHOU ; Qiu-Fen HU ; Yan-Qing YE
China Journal of Chinese Materia Medica 2016;41(14):2652-2654
A new furan-2-carboxylic acid, 5-[3-(hydroxymethyl)-4,5-dimethoxyphenyl]-3-methylfuran-2-carboxylic acid(1),has been isolated from the bark of Cassia alata by using various chromatographic techniques. It displayed cytotoxicity against NB4, A549, SHSY5Y, PC3 and MCF7 cell lines with IC₅₀ values of 2.5, 1.2, 2.2, 3.6 and 1.9 μmol•L⁻¹, respectively.
9.A new isoindole alkaloid from leaves of Cassia siamea.
Ling ZHOU ; Wei DONG ; Yue-de WANG ; Kun ZHOU ; Hang-Ying MA ; Yan YANG ; Huan-Huan XING ; Min ZHOU ; Qiu-Fen HU ; Yan-Qing YE
China Journal of Chinese Materia Medica 2016;41(9):1646-1648
A new isoindole alkaloid (1), has been isolated from the leaves of Cassia siamea by using various chromatographic techniques. Compound 1 is a new compound, determined as 5-(hydroxymethyl)-2-methyl-6-prenylisoindolin-1-one, and it displayed cytotoxicity against NB4, A549, SHSY5Y, PC3 and MCF7 cell lines with IC₅₀ values of 3.2,4.6,2.8,6.4, 2.5 μmol•L⁻¹, respectively.
10.Quality of commercial Amomum villosum.
Guang LI ; Xue-Lan LI ; De-Ying TANG ; Hai-Tao LI ; Yun-Qiang WANG ; Yi-Hang LI
China Journal of Chinese Materia Medica 2016;41(9):1608-1616
In recent years, with the price rise of Amomum villosum, the quality of A. villosum in the market has been in disorder. To understand the quality status of A. villosum in the market and provide reference for the commercial size fifty-seven samples were collected from different producing areas or markets from August 2013. The samples were detected with evaluation on appearance quality, determination of the contents of bornyl acetate, determination of pesticide residues and heavy metals residues based on Chinese Pharmacopoeia 2015. The results showed that the pesticide residues and heavy metals residues met the requirments, all the samples from different producing areas were qualified except one sample from Fujian province. The qualified rate of native products and imports products samples from market were 43.75% and 14.29%, respectively, the qualified rate of the samples of Yunnan province from producing areas was higher than that from the market. There are two ports at the national level in Yunnan province, where the southern herbs from. A. villosumis one of import medicines from Southeast Asia, and lots of A. villosum samples import to China from Yunnan ports. Most of pharmacists believed that all of the samples from Yunnan province produced in Yunnan. The great majority of commercial species was A. villosum, but A. longiliglare was scarce. Through the survey, it isfound that the main factors affecting the quality of Amomi Fructus was source, lots of A. villosum samples have been replaced by the Amomi Fructus, so the source of imports Amomi Fructus was not clear, which was also more difficult to identify. The quality of A. villosum needs to protect, optimize germplasm, strict control of medicinal sources, specification for medicinal harvesting and processing technology.

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