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Hemophagocytic lymphohistiocytosis: Recent progress in the pathogenesis, diagnosis and treatment

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World Journal of Hematology 2014年第3期3卷 71-84页

作者： Shinsaku Imashuku the Department of Laboratory Medicine Uji-Tokushukai Medical Center

Hemophagocytic lymphohistiocytosis(HLH) is a hyperinflammatory syndrome that develops as a primary(familial/hereditary) or secondary(non-familial/hereditary) disease characterized in the majority of the cases by hereditary or acquired impaired cytotoxic T-cell(CTL) and natural killer responses. The molecular mechanisms underlying impaired immune homeostasis have been clarified, particularly for primary diseases. Familial HLH(familial hemophagocytic lymphohistiocytosis type 2-5, Chediak-Higashi syndrome, Griscelli syndrome type 2, Hermansky-Pudlak syndrome type 2) develops due to a defect in lytic granule exocytosis, impairment of(signaling lymphocytic activation molecule)-associated protein, which plays a key role in CTL activity [e.g., X-linked lymphoproliferative syndrome(XLP) 1], or impairment of X-linked inhibitor of apoptosis, a potent regulator of lymphocyte homeostasis(e.g., XLP2). The development of primary HLH is often triggered by infections, but not in all. Secondary HLH develops in association with infection, autoimmune diseases/rheumatological conditions and malignancy. The molecular mechanisms involved in secondary HLH cases remain unknown and the pathophysiology is not the same as primary HLH. For either primary or secondary HLH cases, immunosuppressive therapy should be given to control the hypercytokinemia with steroids, cyclosporine A, or intravenous immune globulin, and if primary HLH is diagnosed, immunochemotherapy with a regimen containing etoposide or anti-thymocyte globulin should be started. Thereafter, allogeneic hematopoietic stem-cell transplantation is recommended for primary HLH or secondary refractory disease(especially EBVHLH).

关键词： Alemtuzumab Anti-thymocyte globulin Cyclosporine A Epstein-Barr virus Etoposide Hematopoietic stem-cell transplantation Hemophagocytic lymphohistiocytosis Hereditary diseases Immunochemotherapy Intravenous immunoglobulin Molecular diagnosis Rituximab Steroids

Detection and analysis of biochemical indicators, antioxidant enzymes and related factors in patients with Parkinson

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Journal of Hainan Medical University 2018年第22期24卷 71-74页

作者： Xing-Zhong Liu Gao-Ping Zhu Clinical Laboratory Sichuan Provincial Rehabilitation Hospital affiliated with Chongqing Medical University(Sichuan Bayi RehabilitationCenter)Chengdu611130SichuanChina Department of Internal Neurology Sichuan Provincial Rehabilitation Hospital affiliated with Chongqing Medical University(Sichuan BayiRehabilitation Center)Chengdu611130SichuanChina

Objective: To explore the changes and clinical significance of biochemical indexes, antioxidant enzymes and related factors in patients with Parkinson. Methods: 50 patients with Parkinson's disease who were treated in our hospital from March 2016 to March 2017 were selected as observation group. 50 healthy volunteers who were received physical examination in this hospital during the same period were selected as control group. The levels of bilirubin, blood uric acid, superoxide dismutase, glutathione peroxidase, catalase, TNF-α, tumor necrosis factor-α receptor-1, tumor necrosis factor-α receptor-2, monocyte chemoattractant protein-1 and macrophage inflammatory protein -1 of the patients in the two group were compared. Results: The level of serum bilirubin, uric acid, SOD, GSH-PX and CAT of patients in the observation group were (5.65±0.61) μmoL/L, (262.96±26.38) μmoL/L, (92.65±9.35) U/mL, (18.96±2.03) U/mL and (56.94±16.23) U/mL. The above indexes of patients in the observation group were significantly lower than those of patients in the control group (Pcontrol group (Pdisease and can be used as auxiliary index in the diagnosis and treatment of Parkinson's disease.

关键词： Parkinson Biochemical indicators Antioxidant enzymes Inflammatory factors

Co-occurrence of type 1 diabetes mellitus and celiac disease

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World Journal of Diabetes 2015年第5期6卷 707-714页

作者： Amit Akirov Orit Pinhas-Hamiel Beilinson Campus Rabin Medical Center Sackler School of Medicine Tel-Aviv University Pediatric Endocrine and Diabetes Unit Safra Children’s HospitalSheba Medical Center

The co-occurrence of celiac disease(CD) and type 1 diabetes(T1DM) has been reported as 5-7 times more prevalent than CD *** clinical presentation and natural history of CD in patients with T1 DM may vary *** than 10% of patients with T1 DM and CD show gastrointestinal ***,experts support screening for CD in T1 DM patients,though there is no consensus as to the recommended frequency of *** stratified by time since CD diagnosis,longer follow-up and coexistence of CD are associated with significant increased risk of diabetic associated morbidity and *** CD diagnosis and treatment with a gluten-free diet are essential.

关键词： Type 1 diabetes mellitus Celiac disease Glycemic control Gluten free diet Pediatrics

Expert consensus on management principles of orthopedic emergency in the epidemic of coronavirus disease 2019

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Chinese Medical Journal 2020年第9期133卷 1096-1098页

作者： Pei-Fu Tang Zhi-Yong Hou Xin-Bao Wu Chang-Qing Zhang Jun-Wen Wang Xin Xing Zeng-Wu Shao Ai-Xi Yu Gang Wang Bin Chen Ping Zhang Yan-Jun Hu Bo-Wei Wang Xiao-Dong Guo Xin Tang Dong-Sheng Zhou Fan Liu Ai-Mi Chen Kun Zhang Kai-Nan Li Yan-Bin Zhu 无 Department of Orthopedics Department of OrthopedicsThe First Medical CenterChinese PLA General HospitalBeijing 100853China Emergency center of Trauma Third Hospital of Hebei Medical UniversityShijiazhuangHebei 050051China Department of Traumatology and Orthopedics Beijing Jishuitan HospitalBeijing 100035China Department of Orthopedics The Sixth People’s Hospital Affiliated to Shanghai Jiaotong UniversityShanghai 200233China Department of Orthopedics Wuhan Fourth HospitalWuhanHubei 430034China Department of Orthopedics Union Hospital Tongji Medical College Huazhong University of Science and TechnologyWuhanHubei 430022China Department of Trauma Microsurgery Zhongnan Hospital of Wuhan UniversityWuhanHubei 430071China Department of Orthopedics and Traumatology Nanfang HospitalSouthern Medical UniversityGuangzhouGuangdong 510515China Department of Orthopedics The First Affiliated Hospital of Dalian Medical UniversityDalianLiaoning 116011China Department of Orthopedics Shandong Provincial HospitalJinanShandong 25002China Department of Orthopedics Affiliated Hospital of Nantong UniversityNantongJiangsu 226001China Department of Orthopedics Changzheng Hospital Affiliated to Naval Military Medical UniversityShanghai 200003China Department of Orthopedics Honghui Hospital Affiliated to Medical College of Xi’an Jiaotong UniversityXi’an Shaanxi 710054China Department of Orthopedics Affiliated Hospital of Chengdu UniversityChengduSichuan 610081China Orthopedic Trauma Branch of Chinese Orthopedic Association External Fixation and Limb Reconstruction Branch of Chinese Orthopedic Association Trauma Expert Committee of Chinese Association of Orthopedic Surgeons

Since December 2019,many patients in Wuhan sustained pneumonia with unknown causes.[1,2]A part of severe patients developed acute respiratory distress syndrome or septic shock,and even *** January 7,2020,Chinese researchers have for the first time detected a new *** January 20,2020,the National Health Commission issued Announcement No.1 of 2020,which included the new coronavirus pneumonia as a Class B infectious disease,and conducted epidemic prevention and control according to the Class A infectious *** new kind of pneumonia has been named coronavirus disease 2019(COVID-19).The sixth edition of"diagnosis and Treatment Scheme for New Coronavirus Infected Pneumonia"points out that the main transmission routes include respiratory droplets and close contact *** is a possibility of aerosol transmission in a relatively closed environment with prolonged exposure to high concentrations of *** coronavirus pneumonia has a certain incubation period.

关键词： prevention sustained aerosol

糖尿病增加肝细胞癌发生的危险性:美国一项基于人群的病例对照研究

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世界核心医学期刊文摘（胃肠病学分册） 2005年第8期1卷 45-46页

作者： Davila J.A Morgan R.O Shaib Y H.B. El-Serag 李翔 Houston Vet. Affairs Medical center 2002 Holcombe Blvd.(152)Houston TX 77030United States.Dr

Background: Diabetes has been associated with an increa- sed risk of hepatocellular carcinoma (HCC) in studies of referred patients. Th is is the first population based case control study in the USA to examine this a ssociation while adjusting for other major risk factors related to HCC. Methods: We used the Surveillance Epidemiology and End-Results Program (SEER)Medicare l inked database to identify patients aged 65 years and older diagnosed with HCC a nd randomly selected non-cancer controls between 1994 and 1999. Only cases and controls with continuous Medicare enrolment for three years prior to the index d ate were examined. Inpatient and outpatient claims files were searched for diagn ostic codes indicative of diabetes,hepatitis C virus (HCV), hepatitis B virus (H BV), alcoholic liver disease, and haemochromatosis. HCC patients without these c onditions were categorised as idiopathic. Unadjusted and adjusted odds ratios we re calculated in logistic regression analyses. Results: We identified 2061 HCC p atients and 6183 non-cancer controls. Compared with non-cancer controls, patie nts with HCC were male (66%v 36%) and non-White (34%v 18%). The proportion of HCC patients with diabetes (43%) was significantly greater than non-cancer controls (19%). In multiple logistic regression analyses that adjusted for demo graphics features and other HCC risk factors (HCV, HBV, alcoholic liver disease, and haemochromatosis),diabetes was associated with a threefold increase in the risk of HCC. In a subset of patients without these major risk factors, the adjus ted odds ratio for diabetes declined but remained significant (adjusted odds rat io 2.87 (95%con-fidence interval 2.49-3.30)). A significant positive interact ion between HCV and diabetes was detected (pdiagnosis. Conclusions:Diabetes is associated with a 2-3-fold increase in the risk of HCC, regard

关键词：病例对照研究发病风险肝细胞癌血色病酒精性肝脏疾病丙型肝炎酒精性肝病危险比乙型肝炎相关记录

Evidence of impaired facial emotion recognition in mild Alzheimer’s disease: A mathematical approach and application

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Open Journal of Psychiatry 2012年第3期2卷 171-186页

作者： Philippe Granato Shreekumar Vinekar Jean-Pierre Van Gansberghe Raymond Bruyer Brussels Belgium Department of Psychiatry and Behavioral Sciences College of Medicine University of Oklahoma Oklahoma City USA Institute of Psychological Sciences Center of Neuroscience Cognition and Systems University of Louvain Louvain la Neuve Bel-gium Unité de Psychiatrie du Sujet Agé (UPSA) Centre Hospitalier de Valenciennes Valenciennes France

Objectives: The first objective of this paper is to show the improved binary outcomes resulting from using MARIE as a diagnostic instrument that allows valid and reliable visual recognition of facial emotional expressions (VRFEE) in an objective and quantitative manner. The second objective is to demonstrate mathematical modeling of binary responses that allow the measurement of categorical dimension, sensitivity, camber, equilibrium points, transition thresholds, etc. The final objective is to illustrate the use of this test for 1) testing a homogeneous sample of healthy young participants;and 2) applying this method to a sample of 12 participants with early Alz-heimer disease compared to a matched control sample of healthy elderly participants. Design: Transforming the binary outcomes of MARIE in mathematical variables (experiment 1), allowing verification of a disorder of VRFEE in early Alzheimer’s disease (experiment 2). Measures: Comparison of numerical variables and graphic representations of both samples. Results: The objective measurement of VRFEE is possible in a healthy population. The application of this methodology to a pathological population is also made possible. The results support the current literature. Conclusion: The combination of the mathematical method with the diagnostic instrument MARIE shows its power and ease of use in clinical practice and research. Its application in many clinical conditions and in clinical research can be useful for understanding brain function. This method improves 1) the inter-examiner comparison and standardizes the quantification of VRFEE for use by multiple researchers;2) the follow-up of a sample over time;3) the comparison of two or more samples. This method is already available in clinical work for refining the diagnosis of Alzheimer’s disease (AD) in our department.

关键词： Emotion Perception Measure Morphed Facial Expression Categorical Perception Logistic Function MARIE Alzheimer

Effect of hormone therapy on carotid elasticity in postmenopausalwomen by Echo-tracking technique

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South China Journal of Cardiology 2011年第1期12卷 20-26,39页

作者： YANG Jin-ru LI Fen JIANG Jue Department of Ultrasonics The First Affiliated Hospital of Medical College Xi'an Jiaotong University Xi'an 710061 China Maternal and Child Health center The First Affiliated Hospital of Medical College Xi'an Jiaotong University Xi'an 710061 China Department of Ultrasonics The Second Affiliated Hospital of Medical College Xi'an Jiaotong University Xi'an 710003 China

Background Studies showed that arterial elasticity changes appear earlier than any structural changes, therefore, its accurate evaluation could be applied at early stage to prevent disease. Echo-tracking（E-tracking） technique can track the wall motion trajectory in real-time, calculate the change in vascular diameter automatically, and assessment of vascular stiffness and flexibility directly. This article aims to assess the change of elasticity of carotid artery after hormone therapy （HT） using Echo-tracking technology. Methods Echotracking was used to evaluate the carotid elastic moduli, such as the pressure-strain elastic modulus （Ep）, stiffness parameter （β）, arterial compliance （AC）, pulse wave conducting velocity （PWVβ） and augmentation index （AI） by Aloka α10 color Doppler ultrasound diagnosis system. Results Ep,β and PWVβ in HT group were significantly lower than those in the control group （P 〈 0.01）, while AC was obviously higher than the control group （P 〈 0.01）. E2 was negatively related to β, Ep and PWVβ （r = -0.607, r = -0.573, r = -0.574, P 〈 0.001）, while positively related to AC （r = 0.574, P 〈 0.001）; endothelial-dependent dilatation （EDD） was negatively related to β, Ep and PWVβ （r = -0.521, r = -0.411, r = -0.456, P 〈 0.001）, while positively related to AC （r = 0.443, P 〈 0.001）; But IMT was positively related to β, Ep and PWVβ（r = 0.553, r = 0.444, r = 0.529, P 〈 0.001）, while negatively related to AC （r = -0.400, P 〈 0.001）. Conclusions Arterial stiffness increases and compliance decreases in menopausal women. As EDD decreases arterial elasticity recedes, and HT can improve arterial elasticity. E-tracking technology can discover the early changes in arterial stiffness effectively and it is more sensitive in finding out the changes of stiffness in early atherosclerosis than IMT of carotid artery.

关键词： echo-tracking technique hormone therapy menopause arterial elasticity

外周动脉疾病患者中铁储备降低与心血管结局:一项随机对照试验

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世界核心医学期刊文摘（心脏病学分册） 2007年第8期3卷 2-3页

作者： Zacharski L.R. Chow B.K. Howes P.S. 刘少伟 Dr.Research Service(151) VA Medical Center 215 N Hartland Rd White River Junction VT 05001 United States

背景:超过生理需要的铁聚集可通过增强铁催化、自由基介导的氧化应激而导致心血管疾病风险增高。目的:在一组有症状性外周动脉疾病(PAD)患者中验证静脉切开降低机体铁储备可影响患者临床结局的假说。设计、机构和患者:基于铁(Fe)和动脉... 详细信息

背景:超过生理需要的铁聚集可通过增强铁催化、自由基介导的氧化应激而导致心血管疾病风险增高。目的:在一组有症状性外周动脉疾病(PAD)患者中验证静脉切开降低机体铁储备可影响患者临床结局的假说。设计、机构和患者:基于铁(Fe)和动脉粥样硬化研究(FeAST)(VA合作研究#410)进行一项多中心、随机、对照、单盲性临床试验,该试验于1999年5月1日至2005年4月30日实施,属于退伍军人事务部合作研究项目,共纳入1277例有症状但病情稳定的PAD患者。

关键词：外周动脉疾病铁储备随机对照试验心血管疾病机体铁单盲氧化应激非致死性静脉切开合作研究

Targeted Genes Sequencing Identified a Novel 15 bp Deletion on GJA8 in a Chinese Family with Autosomal Dominant Congenital Cataracts

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Chinese Medical Journal 2016年第7期129卷 860-867页

作者： Han-Yi Min Peng-Peng Qiao Asan Zhi-Hui Yan Hui-Feng Jiang Ya-Ping Zhu Hui-Qian Du Qin Li Jia-Wei Wang Jie Zhang Jun Sun Xin Yi Ling Yang Department of Ophthalmology Chinese Academy of Medical Sciences Peking Union Medical College Hospital Beijing 100730 China College of Life Sciences University of Chinese Academy of Sciences BeijJng 100049 China Binhai Genomics Institute BGI-Tianjin BGI-Shenzhen Tianjin 300308 China Tianjin Translational Genomics center BGI-Tianjin BGI-Shenzhen Tianjin 300308 China Key Laboratory of Systems Microbial Biotechnology Tianjin institute of Industrial Biotechnology Chinese Academy of Sciences Tianjin 300308 China BGI-Shenzhen Shenzhen Guangdong 518083 China Guangzhou Key Laboratory of Cancer Trans-Omics Research (GZ2012 N0348) 13GI-Guangzhou BGl-Shenzben Guangzhou Guangdong 510006 China

Background： Congenital cataract （CC） is the leading cause of visual impairment or blindness in children worldwide. Because of highly genetic and clinical heterogeneity, a molecular diagnosis of the lens disease remains a challenge. Methods： In this study, we tested a three-generation Chinese family with autosomal dominant CCs by targeted sequencing of 45 CC genes on next generation sequencing and evaluated the pathogenicity of the detected mutation by protein structure, pedigree validation, and molecular dynamics （MD） simulation. Results： A novel 15 bp deletion on GJA8 （c.426_440delGCTGGAGGGGACCCT or p. 143147delLEGTL） was detected in the family. The deletion, concerned with an in-frame deletion of 5 amino acid residues in a highly evolutionarily conserved region within the cytoplasmic loop domain of the gap junction channel protein connexin 50 （CxS0）, was in full cosegregation with the cataract phenotypes in the family but not found in 1100 control exomes. MD simulation revealed that the introduction of the deletion destabilized the Cx50 gap junction channel, indicating the deletion as a dominant-negative mutation, Conclusions： The above results support the pathogenic role of the 15 bp deletion on GJA8 in the Chinese family and demonstrate targeted genes sequencing as a resolution to molecular diagnosis of CCs.

关键词： Congenital Cataract GJA8 Next Generation Sequencing Novel In-frame Deletion Targeted Genes Capture