1.Geographical Inference Study of Dust Samples From Four Cities in China Based on ITS2 Sequencing
Wen-Jun ZHANG ; Yao-Sen FENG ; Jia-Jin PENG ; Kai FENG ; Ye DENG ; Ke-Lai KANG ; Le WANG
Progress in Biochemistry and Biophysics 2025;52(4):970-981
ObjectiveIn the realm of forensic science, dust is a valuable type of trace evidence with immense potential for intricate investigations. With the development of DNA sequencing technologies, there is a heightened interest among researchers in unraveling the complex tapestry of microbial communities found within dust samples. Furthermore, striking disparities in the microbial community composition have been noted among dust samples from diverse geographical regions, heralding new possibilities for geographical inference based on microbial DNA analysis. The pivotal role of microbial community data from dust in geographical inference is significant, underscoring its critical importance within the field of forensic science. This study aims to delve deeply into the nuances of fungal community composition across the urban landscapes of Beijing, Fuzhou, Kunming, and Urumqi in China. It evaluates the accuracy of biogeographic inference facilitated by the internal transcribed spacer 2 (ITS2) fungal sequencing while concurrently laying a robust foundation for the operational integration of environmental DNA into geographical inference mechanisms. MethodsITS2 region of the fungal genomes was amplified using universal primers known as 5.8S-Fun/ITS4-Fun, and the resulting DNA fragments were sequenced on the Illumina MiSeq FGx platform. Non-metric multidimensional scaling analysis (NMDS) was employed to visually represent the differences between samples, while analysis of similarities (ANOSIM) and permutational multivariate analysis of variance (PERMANOVA) were utilized to statistically evaluate the dissimilarities in community composition across samples. Furthermore, using Linear Discriminant Analysis Effect Size (LEfSe) analysis to identify and filter out species that exhibit significant differences between various cities. In addition, we leveraged SourceTracker to predict the geographic origins of the dust samples. ResultsAmong the four cities of Beijing, Fuzhou, Kunming and Urumqi, Beijing has the highest species richness. The results of species annotation showed that there were significant differences in the species composition and relative abundance of fungal communities in the four cities. NMDS analysis revealed distinct clustering patterns of samples based on their biogeographic origins in multidimensional space. Samples from the same city exhibited clear clustering, while samples from different cities showed separation along the first axis. The results from ANOSIM and PERMANOVA confirmed the significant differences in fungal community composition between the four cities, with the most pronounced distinctions observed between Fuzhou and Urumqi. Notably, the biogeographic origins of all known dust samples were successfully predicted. ConclusionSignificant differences are observed in the fungal species composition and relative abundance among the cities of Beijing, Fuzhou, Kunming, and Urumqi. Employing fungal ITS2 sequencing on dust samples from these urban areas enables accurate inference of biogeographical locations. The high feasibility of utilizing fungal community data in dust for biogeographical inferences holds particular promise in the field of forensic science.
2.Independent and Interactive Effects of Air Pollutants, Meteorological Factors, and Green Space on Tuberculosis Incidence in Shanghai.
Qi YE ; Jing CHEN ; Ya Ting JI ; Xiao Yu LU ; Jia le DENG ; Nan LI ; Wei WEI ; Ren Jie HOU ; Zhi Yuan LI ; Jian Bang XIANG ; Xu GAO ; Xin SHEN ; Chong Guang YANG
Biomedical and Environmental Sciences 2025;38(7):792-809
OBJECTIVE:
To assess the independent and combined effects of air pollutants, meteorological factors, and greenspace exposure on new tuberculosis (TB) cases.
METHODS:
TB case data from Shanghai (2013-2018) were obtained from the Shanghai Center for Disease Control and Prevention. Environmental data on air pollutants, meteorological variables, and greenspace exposure were obtained from the National Tibetan Plateau Data Center. We employed a distributed-lag nonlinear model to assess the effects of these environmental factors on TB cases.
RESULTS:
Increased TB risk was linked to PM 2.5, PM 10, and rainfall, whereas NO 2, SO 2, and air pressure were associated with a reduced risk. Specifically, the strongest cumulative effects occurred at various lags: PM 2.5 ( RR = 1.166, 95% CI: 1.026-1.325) at 0-19 weeks; PM 10 ( RR = 1.167, 95% CI: 1.028-1.324) at 0-18 weeks; NO 2 ( RR = 0.968, 95% CI: 0.938-0.999) at 0-1 weeks; SO 2 ( RR = 0.945, 95% CI: 0.894-0.999) at 0-2 weeks; air pressure ( RR = 0.604, 95% CI: 0.447-0.816) at 0-8 weeks; and rainfall ( RR = 1.404, 95% CI: 1.076-1.833) at 0-22 weeks. Green space exposure did not significantly impact TB cases. Additionally, low temperatures amplified the effect of PM 2.5 on TB.
CONCLUSION
Exposure to PM 2.5, PM 10, and rainfall increased the risk of TB, highlighting the need to address air pollutants for the prevention of TB in Shanghai.
China/epidemiology*
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Humans
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Air Pollutants/analysis*
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Tuberculosis/epidemiology*
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Incidence
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Meteorological Concepts
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Particulate Matter/adverse effects*
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Environmental Exposure
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Male
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Female
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Adult
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Air Pollution
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Middle Aged
3.Chinese expert consensus on blood support mode and blood transfusion strategies for emergency treatment of severe trauma patients (version 2024)
Yao LU ; Yang LI ; Leiying ZHANG ; Hao TANG ; Huidan JING ; Yaoli WANG ; Xiangzhi JIA ; Li BA ; Maohong BIAN ; Dan CAI ; Hui CAI ; Xiaohong CAI ; Zhanshan ZHA ; Bingyu CHEN ; Daqing CHEN ; Feng CHEN ; Guoan CHEN ; Haiming CHEN ; Jing CHEN ; Min CHEN ; Qing CHEN ; Shu CHEN ; Xi CHEN ; Jinfeng CHENG ; Xiaoling CHU ; Hongwang CUI ; Xin CUI ; Zhen DA ; Ying DAI ; Surong DENG ; Weiqun DONG ; Weimin FAN ; Ke FENG ; Danhui FU ; Yongshui FU ; Qi FU ; Xuemei FU ; Jia GAN ; Xinyu GAN ; Wei GAO ; Huaizheng GONG ; Rong GUI ; Geng GUO ; Ning HAN ; Yiwen HAO ; Wubing HE ; Qiang HONG ; Ruiqin HOU ; Wei HOU ; Jie HU ; Peiyang HU ; Xi HU ; Xiaoyu HU ; Guangbin HUANG ; Jie HUANG ; Xiangyan HUANG ; Yuanshuai HUANG ; Shouyong HUN ; Xuebing JIANG ; Ping JIN ; Dong LAI ; Aiping LE ; Hongmei LI ; Bijuan LI ; Cuiying LI ; Daihong LI ; Haihong LI ; He LI ; Hui LI ; Jianping LI ; Ning LI ; Xiying LI ; Xiangmin LI ; Xiaofei LI ; Xiaojuan LI ; Zhiqiang LI ; Zhongjun LI ; Zunyan LI ; Huaqin LIANG ; Xiaohua LIANG ; Dongfa LIAO ; Qun LIAO ; Yan LIAO ; Jiajin LIN ; Chunxia LIU ; Fenghua LIU ; Peixian LIU ; Tiemei LIU ; Xiaoxin LIU ; Zhiwei LIU ; Zhongdi LIU ; Hua LU ; Jianfeng LUAN ; Jianjun LUO ; Qun LUO ; Dingfeng LYU ; Qi LYU ; Xianping LYU ; Aijun MA ; Liqiang MA ; Shuxuan MA ; Xainjun MA ; Xiaogang MA ; Xiaoli MA ; Guoqing MAO ; Shijie MU ; Shaolin NIE ; Shujuan OUYANG ; Xilin OUYANG ; Chunqiu PAN ; Jian PAN ; Xiaohua PAN ; Lei PENG ; Tao PENG ; Baohua QIAN ; Shu QIAO ; Li QIN ; Ying REN ; Zhaoqi REN ; Ruiming RONG ; Changshan SU ; Mingwei SUN ; Wenwu SUN ; Zhenwei SUN ; Haiping TANG ; Xiaofeng TANG ; Changjiu TANG ; Cuihua TAO ; Zhibin TIAN ; Juan WANG ; Baoyan WANG ; Chunyan WANG ; Gefei WANG ; Haiyan WANG ; Hongjie WANG ; Peng WANG ; Pengli WANG ; Qiushi WANG ; Xiaoning WANG ; Xinhua WANG ; Xuefeng WANG ; Yong WANG ; Yongjun WANG ; Yuanjie WANG ; Zhihua WANG ; Shaojun WEI ; Yaming WEI ; Jianbo WEN ; Jun WEN ; Jiang WU ; Jufeng WU ; Aijun XIA ; Fei XIA ; Rong XIA ; Jue XIE ; Yanchao XING ; Yan XIONG ; Feng XU ; Yongzhu XU ; Yongan XU ; Yonghe YAN ; Beizhan YAN ; Jiang YANG ; Jiangcun YANG ; Jun YANG ; Xinwen YANG ; Yongyi YANG ; Chunyan YAO ; Mingliang YE ; Changlin YIN ; Ming YIN ; Wen YIN ; Lianling YU ; Shuhong YU ; Zebo YU ; Yigang YU ; Anyong YU ; Hong YUAN ; Yi YUAN ; Chan ZHANG ; Jinjun ZHANG ; Jun ZHANG ; Kai ZHANG ; Leibing ZHANG ; Quan ZHANG ; Rongjiang ZHANG ; Sanming ZHANG ; Shengji ZHANG ; Shuo ZHANG ; Wei ZHANG ; Weidong ZHANG ; Xi ZHANG ; Xingwen ZHANG ; Guixi ZHANG ; Xiaojun ZHANG ; Guoqing ZHAO ; Jianpeng ZHAO ; Shuming ZHAO ; Beibei ZHENG ; Shangen ZHENG ; Huayou ZHOU ; Jicheng ZHOU ; Lihong ZHOU ; Mou ZHOU ; Xiaoyu ZHOU ; Xuelian ZHOU ; Yuan ZHOU ; Zheng ZHOU ; Zuhuang ZHOU ; Haiyan ZHU ; Peiyuan ZHU ; Changju ZHU ; Lili ZHU ; Zhengguo WANG ; Jianxin JIANG ; Deqing WANG ; Jiongcai LAN ; Quanli WANG ; Yang YU ; Lianyang ZHANG ; Aiqing WEN
Chinese Journal of Trauma 2024;40(10):865-881
Patients with severe trauma require an extremely timely treatment and transfusion plays an irreplaceable role in the emergency treatment of such patients. An increasing number of evidence-based medicinal evidences and clinical practices suggest that patients with severe traumatic bleeding benefit from early transfusion of low-titer group O whole blood or hemostatic resuscitation with red blood cells, plasma and platelet of a balanced ratio. However, the current domestic mode of blood supply cannot fully meet the requirements of timely and effective blood transfusion for emergency treatment of patients with severe trauma in clinical practice. In order to solve the key problems in blood supply and blood transfusion strategies for emergency treatment of severe trauma, Branch of Clinical Transfusion Medicine of Chinese Medical Association, Group for Trauma Emergency Care and Multiple Injuries of Trauma Branch of Chinese Medical Association, Young Scholar Group of Disaster Medicine Branch of Chinese Medical Association organized domestic experts of blood transfusion medicine and trauma treatment to jointly formulate Chinese expert consensus on blood support mode and blood transfusion strategies for emergency treatment of severe trauma patients ( version 2024). Based on the evidence-based medical evidence and Delphi method of expert consultation and voting, 10 recommendations were put forward from two aspects of blood support mode and transfusion strategies, aiming to provide a reference for transfusion resuscitation in the emergency treatment of severe trauma and further improve the success rate of treatment of patients with severe trauma.
4.Small cell prostate carcinoma and high-grade invasive urothelial carcinoma of the bladder combined with small cell bladder carcinoma: a case report
Xungang LI ; Wensheng ZHANG ; Xinxi DENG ; Zhiwen LE ; Jia ZENG
Chinese Journal of Urology 2024;45(3):225-226
Small cell carcinoma of the prostate is a rare and highly malignant tumor of the urinary system. It is less common for prostate small cell carcinoma coexisting with bladder carcinoma. One such case was reported in this paper. The patient underwent ultrasound-guided transrectal prostate biopsy, and transurethral bladder endoscopy + bladder tumor electric resection. Postoperative pathology and immunohistochemistry showed prostate small cell carcinoma accompanied by high-grade invasive urothelial carcinoma of the bladder and small cell carcinoma. The patient underwent local bladder perfusion chemotherapy, relying on etoposide plus lobaplatin systemic chemotherapy and toripalimab immunotherapy. Prostate MRI, cystoscopy, and prostate-specific antigen (PSA) were performed 12 months after operation. The size of the lesions in the prostate and seminal vesicles had decreased, and there was a significant reduction in PSA levels. Additionally, no masses were detected in the bladder.
5.Management of ulcerative colitis in Taiwan: consensus guideline of the Taiwan Society of Inflammatory Bowel Disease updated in 2023
Hsu-Heng YEN ; Jia-Feng WU ; Horng-Yuan WANG ; Ting-An CHANG ; Chung-Hsin CHANG ; Chen-Wang CHANG ; Te-Hsin CHAO ; Jen-Wei CHOU ; Yenn-Hwei CHOU ; Chiao-Hsiung CHUANG ; Wen-Hung HSU ; Tzu-Chi HSU ; Tien-Yu HUANG ; Tsung-I HUNG ; Puo-Hsien LE ; Chun-Che LIN ; Chun-Chi LIN ; Ching-Pin LIN ; Jen-Kou LIN ; Wei-Chen LIN ; Yen-Hsuan NI ; Ming-Jium SHIEH ; I-Lun SHIH ; Chia-Tung SHUN ; Tzung-Jiun TSAI ; Cheng-Yi WANG ; Meng-Tzu WENG ; Jau-Min WONG ; Deng-Chyang WU ; Shu-Chen WEI
Intestinal Research 2024;22(3):213-249
Ulcerative colitis (UC) is a chronic inflammation of the gastrointestinal tract and is characterized by alternating periods of inflammation and remission. Although UC incidence is lower in Taiwan than in Western countries, its impact remains considerable, demanding updated guidelines for addressing local healthcare challenges and patient needs. The revised guidelines employ international standards and recent research, emphasizing practical implementation within the Taiwanese healthcare system. Since the inception of the guidelines in 2017, the Taiwan Society of Inflammatory Bowel Disease has acknowledged the need for ongoing revisions to incorporate emerging therapeutic options and evolving disease management practices. This updated guideline aims to align UC management with local contexts, ensuring comprehensive and context-specific recommendations, thereby raising the standard of care for UC patients in Taiwan. By adapting and optimizing international protocols for local relevance, these efforts seek to enhance health outcomes for patients with UC.
6.Management of Crohn’s disease in Taiwan: consensus guideline of the Taiwan Society of Inflammatory Bowel Disease updated in 2023
Jia-Feng WU ; Hsu-Heng YEN ; Horng-Yuan WANG ; Ting-An CHANG ; Chung-Hsin CHANG ; Chen-Wang CHANG ; Te-Hsin CHAO ; Jen-Wei CHOU ; Yenn-Hwei CHOU ; Chiao-Hsiung CHUANG ; Wen-Hung HSU ; Tzu-Chi HSU ; Tien-Yu HUANG ; Tsung-I HUNG ; Puo-Hsien LE ; Chun-Che LIN ; Chun-Chi LIN ; Ching-Pin LIN ; Jen-Kou LIN ; Wei-Chen LIN ; Yen-Hsuan NI ; Ming-Jium SHIEH ; I-Lun SHIH ; Chia-Tung SHUN ; Tzung-Jiun TSAI ; Cheng-Yi WANG ; Meng-Tzu WENG ; Jau-Min WONG ; Deng-Chyang WU ; Shu-Chen WEI
Intestinal Research 2024;22(3):250-285
Crohn’s disease (CD) is a chronic, fluctuating inflammatory condition that primarily affects the gastrointestinal tract. Although the incidence of CD in Taiwan is lower than that in Western countries, the severity of CD presentation appears to be similar between Asia and the West. This observation indicates the urgency for devising revised guidelines tailored to the unique reimbursement system, and patient requirements in Taiwan. The core objectives of these updated guidelines include the updated treatment choices and the integration of the treat-to-target strategy into CD management, promoting the achievement of deep remission to mitigate complications and enhance the overall quality of life. Given the diversity in disease prevalence, severity, insurance policies, and access to medical treatments in Taiwan, a customized approach is imperative for formulating these guidelines. Such tailored strategies ensure that international standards are not only adapted but also optimized to local contexts. Since the inception of its initial guidelines in 2017, the Taiwan Society of Inflammatory Bowel Disease (TSIBD) has acknowledged the importance of continuous revisions for incorporating new therapeutic options and evolving disease management practices. The latest update leverages international standards and recent research findings focused on practical implementation within the Taiwanese healthcare system.
7.Differential Expression of miR-133b in Human Hair Follicles Treated with DHT in Vitro and Its Functional Analysis in Human Dermal Papille Cells
Wen-jia DENG ; Chang-jian DENG ; Le HAN ; Ben LIU ; Xin TANG ; Miao-jian WAN
Journal of Sun Yat-sen University(Medical Sciences) 2021;42(2):202-208
ObjectiveTo explore the effects of different concentrations of 5α-dihydrotestosterone (DHT) on growth and proliferation of human hair follicles (HFs) and their relationship with miR-133b expression, then further explore the role of miR-133b in the proliferation and inducibility of human dermal papille cells. MethodsHFs were isolated by microdissection, then the anagen isolated HFs were cultured and divided into different concentrations of DHT treatment groups (10-8mol/L, 10-7mol/L, 10-6mol/L, 10-5mol/L) and the blank control group. The HF growth and morphology were measured and evaluated. The expression of Ki-67 in hair matrix cells and miR-133b were detected by immunofluorescence assay and qRT-PCR respectively. Lipofectamine 2000 was used to transfect miR-133b mimics and miR-133b NC into human dermal papilla cells. CCK-8 was used to assess the proliferation ability of human dermal papilla cells. qRT-PCR and Western Blot were performed to evaluate respectively the mRNA and protein levels of the markers associated with inductive ability of dermal papilla cells, such as Versican, ALP and β-catenin. ResultsCompared with the control group, no other treatment groups but the DHT 10-5mol/L group showed statistically significant inhibitory effect on HF growth (P<0.05). The catagen in the DHT 10-5mol/L group appeared earlier than that in the control group and there was no statistically significant difference in HF growth between other treatment groups and the control group. The DHT 10-5mol/L group showed lower percentage of Ki-67-positive cells in hair matrix cells and significantly increased relative expression of miR-133b in HFs, 3.17±0.26 times more than that in the control group (P<0.01). CCK-8 assay revealed that the OD450 value in the miR-133b mimics group was lower than that in the miR-133b NC group (P<0.05). qRT-PCR revealed that the mRNA expression levels of Versican, ALP, and β-catenin in the miR-133b mimics group were all lower than those in the miR-133b NC group (P<0.001, P<0.01, P<0.01). Western Blot revealed that the protein expression levels of Versican, ALP, and β-catenin in the miR-133b mimics group were also lower than those in the miR-133b NC group (P<0.01, P<0.001, P<0.01). ConclusionsHigh concentrations of DHT may inhibit the growth and proliferation of HFs via regulating the expression of miR-133b, thus affect the proliferation and inducibility of human dermal papilla cells.
8.Clinical characterization of refractory virus-related inflammation inside aqueous outflow pathways in Chinese immunocompetent patients.
Dan-Dan ZHANG ; Crystal LE ; Jia-Fan LIU ; Cong-Cong GUO ; Jian-Long LI ; Jia-Min ZHANG ; Zhong-Wen LI ; Zhen-Ni ZHAO ; Deng-Hui CHEN ; Miao ZHANG ; Nan-Nan SUN ; Ying HAN ; Chun-Mei LI ; Zhi-Gang FAN
Chinese Medical Journal 2019;132(3):360-363
Adult
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Aged
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Aqueous Humor
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virology
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Female
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Humans
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Immunocompetence
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immunology
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Inflammation
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virology
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Male
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Middle Aged
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Retrospective Studies
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Young Adult
9.The clinic research of the modified laparoscopic splenectomy for massive splenomegaly in the treatment of children with hematologic diseases.
Xiao-Geng DENG ; Jing TANG ; Yao-Hao WU ; Maharjan AUMIR ; Jie ZHANG ; Jia-Jia ZHOU ; Le-Xiang ZENG ; Rong-Lin QIU
Chinese Journal of Surgery 2013;51(9):788-791
OBJECTIVETo summarize the experience and characteristics of the modified laparoscopic splenectomy for massive splenomegaly in the treatment of children with hematologic disease.
METHODSThe clinical data of 30 cases of laparoscopic splenectomy for massive splenomegaly of children with hematologic disease from March 2007 to December 2011 was analyzed retrospectively. There were 18 male and 12 female patients, aging from 2 to 14 years. Primary disease included mediterranean anemia (17 cases), hereditary spherocytosis (4 cases) and idiopathic thrombocytopenic purpura (ITP, 9 cases). Dissection started with cutting off the gastrosplenic ligaments and lesser sac to fully reveal the splenic hilum, the splenic artery was clamped twice with 10 mm tiatanum clamp. When most of blood stored in the spleen back to heart through the veins and the splenic volume had already decreased, the splenic vein was ligated with 10 mm titanium clip and cut with ligsure and splenic pedicle separated. The Surgery and complication were recorded. For 1 week after surgery, the hemoglobin and platelet counts were reviewed.
RESULTSTwenty-six cases were performed successfully, and 4 cases were converted to open procedure. Of the 4 cases, 2 cases was obesity because of idiopathic thrombocytopenic purpura, 1 case was β thalassaemia combined severe liver enlargement, and 1 case was after partial splenic embolization. In cases of laparoscopic splenectomy, operation time was 110 to 130 minutes, with an average of 120 minutes, and blood loss during operation was 35 to 180 ml, with an average of 45 ml. Compared with pre-operation, the hemoglobin of mediterranean anemia and hereditary spherocytosis patients were (92 ± 8) g/L, and blood platelet count of ITP patients was (127 ± 20)×10(9)/L, and they increased obviously at 1 week after operation (t = 4.175 and 8.253, both P = 0.000).
CONCLUSIONThe modified surgical method make the laparoscopic splenectomy for massive splenomegaly in many children with hematologic diseases possible, which was thought to be impossible in the past.
Child ; Hematologic Diseases ; Humans ; Laparoscopy ; Splenectomy ; Splenomegaly ; Treatment Outcome
10.Wolman disease with novel mutation of LIPA gene in a Chinese infant.
Yong-lan HUANG ; Hui-ying SHENG ; Xiao-yuan ZHAO ; Jia-kang YU ; Le LI ; Hong-sheng LIU ; Cong-min GU ; Deng-min HE ; Li LIU
Chinese Journal of Pediatrics 2012;50(8):601-605
OBJECTIVETo explore the clinical characteristics of Wolman disease and diagnostic methods using enzymatic and molecular analysis.
METHODLysosomal acid lipase activity was measured using 4-methylumbelliferyl oleate in the leukocytes of an infant suspected of Wolman disease and LIPA gene mutational analysis was performed by PCR and direct sequencing in the proband and his parents. After the diagnosis was confirmed, the clinical, biochemical, radiological and histopathological findings in this case of Wolman disease were retrospectively reviewed.
RESULTThe sixteen-day-old boy was failing to thrive with progressive vomiting, abdominal distention and hepatosplenomegaly. Abdominal X-ray revealed adrenal calcifications which were confirmed on abdominal CT scan. Xanthomatosis were observed on enlarged liver, spleen and lymph nodes during abdominal surgery. Liver and lymph node biopsy showed foamy histiocytes. The lysosomal acid lipase activity in leukocytes was 3.5 nmol/(mg·h) [control 35.5 - 105.8 nmol/(mg·h)]. Serum chitotriosidase activity was 315.8 nmol/(ml·h) [control 0 - 53 nmol/(ml·h)]. The patient was homozygote for a novel insert mutation allele c.318 ins T, p. Phe106fsX4 in exon 4 on LIPA gene. His both parents were carriers of the mutation.
CONCLUSIONThe clinical features of Wolman disease include early onset of vomiting, abdominal distention, growth failure, hepatosplenomegaly and bilateral adrenal calcification after birth. A plain abdominal X-ray film should be taken to check for the typical pattern of adrenal calcification in suspected cases of Wolman disease. The enzymatic and molecular analyses of lysosomal acid lipase can confirm the diagnosis of Wolman disease.
Adrenal Gland Diseases ; etiology ; pathology ; Exons ; Humans ; Infant, Newborn ; Leukocytes ; enzymology ; Lipase ; blood ; genetics ; Liver ; pathology ; Lysosomes ; enzymology ; genetics ; Male ; Mutation ; Polymerase Chain Reaction ; Splenomegaly ; pathology ; Sterol Esterase ; genetics ; Tomography, X-Ray Computed ; Wolman Disease ; diagnosis ; enzymology ; genetics ; pathology

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