1.A Case of Multidisciplinary Treatment for a Patient with Gorham-Stout Disease
Jing HU ; Ying JIN ; Yan ZHANG ; Ji LI ; Wenhui WANG ; Yue CHI ; Chunxu LI ; Zhenjie ZHANG ; Yaping LIU ; Xiaotian CHU ; Jin XU ; Min SHEN
JOURNAL OF RARE DISEASES 2026;5(1):52-59
Gorham-Stout disease(GSD) is a rare osteolytic disorder characterized by spontaneous and progressive osteolysis, along with abnormal angiogenesis and lymphangiogenesis, with no new bone formation. We present a case of a 15-year-old female admitted due to " recurrent right leg pain for 5 years, 11 months after undergoing right femoral fracture surgery". Through comprehensive integration of the patient's clinical phenotype, laboratory tests, imaging findings, pathological examinations, and molecular biological test results, GSD was considered highly likely. A multidisciplinary treatment approach was conducted, including a combination of zoledronic acid and sirolimus to inhibit osteolysis, along with rehabilitation training and orthopedic intervention, providing a personalized and comprehensive treatment strategy.
2.A Case of Tuberous Sclerosis Complex with Multiple Organ Involvement Caused by TSC2 Gene Mutation
Hongli ZHANG ; Jiayuan DAI ; Yan WANG ; Weihong ZHANG ; Wenbin MA ; Hanhui FU ; Chunxia HE ; Jun ZHENG ; Wenda WANG ; Wei ZUO ; Yaping LIU ; Min SHEN
JOURNAL OF RARE DISEASES 2026;5(1):60-67
Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder primarily caused by pathogenic variants in the
3.Study on quality standard of Andrographis paniculata standard decoction based on UPLC characteristic chromatogram and quantitative analysis of multi-components by single marker
Zhiling MA ; Xiaoya WANG ; Weibo DU ; Zhiqiang ZHANG ; Jianmei SHEN ; Yan LIU
Journal of Pharmaceutical Practice and Service 2026;44(1):46-52
Objective To establish quality evaluation method of Andrographis paniculata standard decoction by UPLC. Methods 21 batches of Andrographis paniculata standard decoctions were prepared according to the standardization method of TCM decoction pieces. The UPLC characteristic chromatograms analysis method was established. With andrographolide as a reference, quantitative analysis of multi-components by single marker (QAMS) was established for new neoandrographolide, 14 deoxyandrographolide and dehydrated andrographolide. The results were compared with the external standard method (ESM) to determine the accuracy of the method. Results Similarity Evaluation System for Chromatographic Fingerprint of TCM (2012 edition) was used to analyze and compare the characteristic chromatograms, and seven common peaks were determined and five were identified including luteolin-7-O-β-D-glucuronide, andrographolide, neoandrographolide, 14-deoxyandrographolide and dehydroandrographolide. The RSDs of content results of each component by QAMS and ESM were all within 3%. Conclusion The determination method was reliable and accurate, which could be used to reflect the intrinsic quality of Andrographis paniculata standard decoction comprehensively and provide the basis for the quality evaluation of Andrographis paniculata formula granules and other preparations.
4.Surveillance of Oncomelania hupensis snails following interruption of schistosomiasis transmission in Yunnan Province
Siqi NING ; Yi DONG ; Chunhong DU ; Lifang WANG ; Yun ZHANG ; Yuhe HE ; Hua JIANG ; Jiayu SUN ; Chunqiong CHEN ; Jiaqi YAN ; Jihua ZHOU ; Zongya ZHANG ; Hongqiong WANG ; Meifen SHEN ; Jing SONG
Chinese Journal of Schistosomiasis Control 2026;38(2):200-206
Objective To investigate the distribution characteristics of Oncomelania hupensis snails in Yunnan Province fol-lowing interruption of schistosomiasis transmission, so as to provide the evidence for assessing the risk of schistosomiasis transmission and scientifically formulating the schistosomiasis surveillance program. Methods According to the requirements of the National Schistosomiasis Surveillance Scheme (2020 Edition), O. hupensis snail surveillance data were collected from 18 schistosomiasis-endemic counties (cities, districts) in Yunnan Province from 2020 to 2024, including area of snail survey, area of snail habitats, area of re-emerging snail habitats, number of frames surveyed, number of frames with O. hupensis snails, number of O. hupensis snails captured, and number of living snails, and the occurrence of frames with snails and mean density of living snails were calculated. Changes in snail status over the 5-year period from 2020 to 2024 and the differences in snail distributions specified by epidemic intensity, environmental type, and vegetation type were analyzed. Results The areas of snail survey increased from 1 727.96 hm2 in 2020 to 3 894.45 hm2 in 2024 (peak) across 18 schistosomiasis-endemic counties (cities, districts) in Yunnan Province during the period from 2020 through 2024. The areas of snail habitats increased from 70.36 hm2 in 2020 to a peak in 2023 (172.04 hm2), followed by a reduction to 132.36 hm2 in 2024, and the areas of re-emerging snail habitats increased from 42.71 hm2 in 2020 to a peak in 2022 (78.43 hm2), followed by a reduction to 40.21 hm2 in 2024. The occurrence of frames with snails and mean density of living snails increased from 1.24% (3 025/244 404) and (0.033 2 ± 0.038 7) snails/0.1 m2 in 2020 to peaks at 2.03% (6 231/307 563) and (0.066 9 ± 0.068 4) snails/0.1 m2 in 2023, followed by reductions to 1.04% (5 829/559 941) and (0.032 6 ± 0.057 7) snails/0.1 m2 in 2024, respectively. There was a significant difference in the occurrence of frames with snails over the 5-year study period (χ2 = 1 962.95, P < 0.05), and the occurrence of frames with snails reduced by 48.71% in 2024 relative to in 2023 (χ2 = 1 411.05, P < 0.005); however, there was no significant difference in the mean density of living snails over the 5 years (H = 5.310, P > 0.05). There were significant differences in the occurrence of frames with snails (χ2 = 481.27, P < 0.05) and mean density of living snails (H = 6.872, P < 0.05) in schistosomiasis-endemic areas with different epidemic intensities. The occurrence of frames with snails (χ2 = 25.32 and 38.70, both P values < 0.017) and mean density of living snails (Z = 28.55 and 49.96, both P values < 0.017) were higher in schistosomiasis transmission-interrupted and eliminated areas with snails than in schistosomiasis-eliminated areas without snails, and the occurrence of frames with snails (χ2 = 453.54, P < 0.017) and mean density of living snails (Z = −56.97, P < 0.017) were higher in schistosomiasis-eliminated areas with snails than in schistosomiasis transmission-interrupted areas with snails. O. hupensis snails were mainly distributed in paddy fields, dry farmlands and ditches; however, the occurrence of frames with snails (13.40%, 424/3 164) and mean density of living snails [(0.252 8 ± 0.158 7) snails/0.1 m2] were higher in ponds/weirs than in other types of environments (both P values < 0.05). Rice, dry farmland crops and weeds were main vegetations in which O. hupensis snails were distributed, and the occurrence of frames with snails (2.29%, 7 111/310 140) and mean density of living snails [(0.072 3 ± 0.018 9) snails/0.1 m2] were higher in weeds than in other types of environments (both P values < 0.05). Conclusions O. hupensis snails have been effectively controlled in Yunnan Province following implementation of integrated schistosomiasis control measures; however, there are still risk factors for schistosomiasis transmission, including reduced attention to schistosomiasis control and snail re-emergence. Improved control efforts and surveillance system construction and timely identification of risk factors of snail status and timely management are recommended to ensure the achievement of the target of schistosomiasis elimination as scheduled.
5.Clinical Application and Pharmacological Mechanism of Sishenwan in Treatment of Ulcerative Colitis: A Review
Keqiu YAN ; Xiaoyu ZHANG ; Sifeng JIA ; Yuyu DUAN ; Zixing QIAN ; Yifan CAI ; Junyi SHEN ; Wenjie XIAO ; Xinkun BAO ; Guangjun SUN ; Aizhen LIN
Chinese Journal of Experimental Traditional Medical Formulae 2025;31(21):261-270
Ulcerative colitis (UC), a chronic, non-specific inflammatory bowel disease with typical symptoms such as abdominal pain, diarrhea, and bloody stools, demonstrates a high relapse rate and difficulty in curing. Sishenwan, first recorded in Internal Medicine Abstract (Nei Ke Zhai Yao), are a classic prescription for treating diarrhea caused by deficiency of the spleen and kidney Yang. The core therapeutic principle of Sishenwan is warming and tonifying the spleen and kidney, and astringing the intestine and stopping diarrhea. In recent years, Sishenwan have demonstrated distinct advantages in the clinical treatment of UC. The pathogenesis of UC involves multiple factors, including immune dysregulation and gut microbiota imbalance. Although Western medicine is effective in the short term, its side effects, high relapse rate, and resistance associated with long-term use pose substantial challenges. Sishenwan have shown excellent clinical outcomes in the treatment of UC due to deficiency of the spleen and kidney Yang. Modern clinical studies indicate that Sishenwan, used alone or in combination with Western medicine or other Chinese medicine compound prescriptions, significantly improve the clinical efficacy in treating UC due to deficiency of the spleen and kidney Yang. Sishenwan effectively alleviate core symptoms such as mucus, pus, and blood in stools, and persistent abdominal pain, reduce Mayo scores and the relapse rate, and improve patients' quality of life. Research on the material basis reveals that Sishenwan contain multiple active ingredients such as psoralen, isopsoralen, and evodiamine. Mechanism studies indicate that Sishenwan inhibit the inflammatory cascade reactions by regulating the signal network through multiple targets. Sishenwan regulate cellular immunity and restore intestinal immune homeostasis. At the microecological level, Sishenwan promote the intestinal barrier repair through the "microbiota-metabolism-immunity" axis. The current research still needs to be deepened in aspects such as the mining of specific biomarkers for syndromes and the exploration of the collaborative mechanism of traditional Chinese and Western medicine. In the future, a full-chain system covering syndrome differentiation, targeting, and monitoring needs to be constructed for promoting the paradigm transformation of Sishenwan into precision drugs. This review systematically explains the treatment mechanism of Sishenwan regarding the combination of disease and syndrome and its multi-target regulatory characteristics, providing a theoretical basis and transformation direction for the treatment of UC with integrated traditional Chinese and Western medicine.
6.Clinical Application and Pharmacological Mechanism of Sishenwan in Treatment of Ulcerative Colitis: A Review
Keqiu YAN ; Xiaoyu ZHANG ; Sifeng JIA ; Yuyu DUAN ; Zixing QIAN ; Yifan CAI ; Junyi SHEN ; Wenjie XIAO ; Xinkun BAO ; Guangjun SUN ; Aizhen LIN
Chinese Journal of Experimental Traditional Medical Formulae 2025;31(21):261-270
Ulcerative colitis (UC), a chronic, non-specific inflammatory bowel disease with typical symptoms such as abdominal pain, diarrhea, and bloody stools, demonstrates a high relapse rate and difficulty in curing. Sishenwan, first recorded in Internal Medicine Abstract (Nei Ke Zhai Yao), are a classic prescription for treating diarrhea caused by deficiency of the spleen and kidney Yang. The core therapeutic principle of Sishenwan is warming and tonifying the spleen and kidney, and astringing the intestine and stopping diarrhea. In recent years, Sishenwan have demonstrated distinct advantages in the clinical treatment of UC. The pathogenesis of UC involves multiple factors, including immune dysregulation and gut microbiota imbalance. Although Western medicine is effective in the short term, its side effects, high relapse rate, and resistance associated with long-term use pose substantial challenges. Sishenwan have shown excellent clinical outcomes in the treatment of UC due to deficiency of the spleen and kidney Yang. Modern clinical studies indicate that Sishenwan, used alone or in combination with Western medicine or other Chinese medicine compound prescriptions, significantly improve the clinical efficacy in treating UC due to deficiency of the spleen and kidney Yang. Sishenwan effectively alleviate core symptoms such as mucus, pus, and blood in stools, and persistent abdominal pain, reduce Mayo scores and the relapse rate, and improve patients' quality of life. Research on the material basis reveals that Sishenwan contain multiple active ingredients such as psoralen, isopsoralen, and evodiamine. Mechanism studies indicate that Sishenwan inhibit the inflammatory cascade reactions by regulating the signal network through multiple targets. Sishenwan regulate cellular immunity and restore intestinal immune homeostasis. At the microecological level, Sishenwan promote the intestinal barrier repair through the "microbiota-metabolism-immunity" axis. The current research still needs to be deepened in aspects such as the mining of specific biomarkers for syndromes and the exploration of the collaborative mechanism of traditional Chinese and Western medicine. In the future, a full-chain system covering syndrome differentiation, targeting, and monitoring needs to be constructed for promoting the paradigm transformation of Sishenwan into precision drugs. This review systematically explains the treatment mechanism of Sishenwan regarding the combination of disease and syndrome and its multi-target regulatory characteristics, providing a theoretical basis and transformation direction for the treatment of UC with integrated traditional Chinese and Western medicine.
7.A Case of Multidisciplinary Treatment for Deficiency of Adenosine Deaminase 2
Jingyuan ZHANG ; Xiaoqi WU ; Jiayuan DAI ; Xianghong JIN ; Yuze CAO ; Rui LUO ; Hanlin ZHANG ; Tiekuan DU ; Xiaotian CHU ; Peipei CHEN ; Hao QIAN ; Pengguang YAN ; Jin XU ; Min SHEN
JOURNAL OF RARE DISEASES 2025;4(3):316-324
This case report presents a 16-year-old male patient with deficiency of adenosine deaminase 2(DADA2). The patient had a history of Raynaud′s phenomenon with digital ulcers since childhood. As the disease progressed, the patient developed retinal vasculitis, intracranial hemorrhage, skin necrosis, severe malnutrition, refractory hypertension, and gastrointestinal bleeding. Genetic testing revealed compound heterozygous mutations in the
8.Epidemiological characteristics of epidemic encephalitis B in Huzhou City from 2007 to 2023
ZHANG Chao ; SHEN Jianyong ; LUO Xiaofu ; LIU Yan ; HAN Liping
Journal of Preventive Medicine 2025;37(4):386-389
Objective:
To investigate the epidemiological characteristics of epidemic encephalitis B in Huzhou City, Zhejiang Province from 2007 to 2023, so as to provide the evidence for formulating prevention and control measures for epidemic encephalitis B.
Methods:
Epidemic encephalitis B case data in Huzhou City from 2007 to 2023 were collected through the National Notifiable Disease Reporting System of the Chinese Disease Prevention and Control Information System. The temporal, regional and population distribution characteristics of laboratory-confirmed epidemic encephalitis B cases were analyzed using the descriptively epidemiological method.
Results:
A total of 49 laboratory-confirmed epidemic encephalitis B cases were reported in Huzhou City from 2007 to 2023, and the average annual incidence was 0.10/105, showing a significant downward trend (P<0.05). The epidemic encephalitis B cases were concentrated from July to August, and July was the peak month, with 40 cases accounting for 81.63%. There was a statistically significant difference in the average annual incidences of epidemic encephalitis B among counties (districts) (P<0.05). Nanxun District had the highest reported incidence, with an average annual incidence of 0.23/105. There were 30 male cases and 19 female cases, with a male-to-female ratio of 1.58∶1. The youngest case was 5 months old, and the oldest was 49 years old. The children under 15 years were in the majority, with 42 cases accounting for 85.71%. Most of the cases were scattered children, with 25 cases accounting for 51.02%. There were 22 cases with no vaccination history and 21 cases with an unknown vaccination history, accounting for 44.90% and 42.86% respectively. All cases presented with fever. Other main clinical symptoms included listlessness, drowsiness, vomiting and headache, with 47, 40, 33 and 29 cases respectively, accounting for 95.92%, 81.63%, 67.35% and 59.18%, respectively.
Conclusions
The incidence of epidemic encephalitis B in Huzhou City remained at a relatively low level from 2007 to 2023, with Nanxun District being the high-risk area and July being the peak month for disease incidence. Fever and listlessness were the predominant clinical manifestations. Strengthening vaccination for children under 15 years should be prioritized.
9.Epidemiological characteristics of hand, foot, and mouth disease in Huzhou City from 2013 to 2023
LIU Yan ; ZHANG Zizhe ; WANG Yuda ; LIU Guangtao ; SHEN Jianyong
Journal of Preventive Medicine 2025;37(7):718-721
Objective:
To investigate the epidemiological characteristics of hand, foot, and mouth disease (HFMD) in Huzhou City, Zhejiang Province from 2013 to 2023, so as to provide the basis for improving HFMD prevention and control measures.
Methods:
Data on HFMD cases in Huzhou City from 2013 to 2023 were collected through the Infectious Disease Reporting Information System of Chinese Disease Prevention and Control Information System. The epidemiological and etiological characteristics of HFMD cases were described.
Results:
A total of 61 093 HFMD cases were reported in Huzhou City from 2013 to 2023, with an average annual reported incidence of 181.89/100 000, showing no significant trend (AAPC=1.855%, P>0.05). The peak incidence of HFMD was reported from May to July, with a second peak from October to December. The average annual reported incidence of HFMD in males was higher than in females (206.93/100 000 vs. 155.74/100 000, P<0.05). The majority of cases were children aged under 5 years, with 48 936 cases (80.10%). The highest average annual reported incidence was observed in the children aged 1 year (5 767.62/100 000). The majority of cases were scattered children, with 33 508 cases (54.85%). Anji County and Wuxing District had relatively high average annual reported incidences of HFMD, at 211.68/100 000 and 210.43/100 000, respectively. Among the 2 791 laboratory-confirmed HFMD cases, 246, 600, and 1 945 cases tested positive for enterovirus 71 (EV71), Coxsackievirus A16, and other enteroviruses, respectively. Children aged under 5 years accounted for 87.39%, 75.67%, and 82.57% of the cases positive for the corresponding virus types, respectively. From 2013 to 2023, other enteroviruses had a relatively high positive proportion, while the positive proportion of EV71 decreased after 2014.
Conclusions
The reported incidence of HFMD in Huzhou City remained relatively stable. The peak incidence occurred from May to July. Males, children aged under 5 years, and scattered children were the key populations for prevention and control. Anji County and Wuxing District were high-incidence areas, and other enteroviruses were the predominant pathogens.
10.Epidemiological characteristics of influenza in Huzhou City from 2014 to 2023
HU Xiaoqiang ; LIU Yan ; ZHOU Sifan ; ZHANG Zizhe ; WANG Yuda ; SHEN Jianyong
Journal of Preventive Medicine 2025;37(9):959-962
Objective:
To analyze the epidemiological characteristics of influenza in Huzhou City, Zhejiang Province from 2014 to 2023, so as to provide a reference for the improvement of influenza prevention and control measures.
Methods:
The data of influenza cases in Huzhou City from 2014 to 2023 were collected from the China Disease Prevention and Control Information System. Descriptive epidemiological methods were used to analyze the population and regional distribution characteristics of influenza. Annual percent change (APC) and average annual percent change (AAPC) were used to analyze the trend of influenza incidence in Huzhou City from 2014 to 2023.
Results:
A total of 83 277 influenza cases were reported in Huzhou City from 2014 to 2023, with an average annual reported incidence of 268.68/105. From 2014 to 2023, the reported incidence of influenza in Huzhou City showed an upward trend (AAPC=68.748%, P<0.05), with a slow upward trend from 2014 to 2021 (APC=31.055%, P<0.05) and a sharp upward trend from 2021 to 2023 (APC=308.782%, P<0.05). The average annual reported incidence of influenza was 270.72/105 in males and 266.54/105 in females, and the difference was not statistically significant (P>0.05). The average annual reported incidence of influenza in children aged 5-<15 years was 1 502.77/100 000. The reported incidences of influenza in Deqing county, Changxing county, and Anji county were 551.44/100 000, 370.47/100 000, and 175.31/100 000, respectively. From 2014 to 2023, the trends of reported influenza incidence in males, females, residents aged 5-<15 years, and 15-<25 years were consistent with the whole population. The reported influenza incidence in each district (county) from 2021 to 2023 was consistent with Huzhou City from 2021 to 2023.
Conclusions
The reported incidence of influenza in Huzhou City showed an overall upward trend from 2014 to 2023, especially from 2021 to 2023. There was no significant gender difference. The majority of the cases were aged 5-<15 years, and the high incidence areas were Deqing County.


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