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Evaluation of etiological characteristics of Chinese women with recurrent spontaneous abortions： a single-centre study

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Chinese Medical Journal 2011年第9期124卷 1310-1315页

作者： MENG Li-li CHEN Hui TAN Jian-ping WANG Zheng-hua ZHANG Rui FU Shuai ZHANG Jian-ping Department of Obstetrics and Gynecology Memorial Hospital of Sun Yat-sen University Guangzhou Guangdong 510120 China Sun Yat-sen University Guangzhou Guangdong 510089 China

Background Various etiologies that contribute to the loss of pregnancy have been proposed. Despite the lack of established and uniform screening methods for recurrent pregnancy loss （RPL）, there are several factors considered to be definite （or probable） causes of RPL. Data describing the etiological characteristics of RPL consist almost entirely of Caucasian populations. As we were interested in the Chinese population, the goal of this study was to determine the etiological characteristics of RPL in the Chinese patients.Methods The study was performed retrospectively by analyzing 1122 women with RPL. Patients were divided into three groups according to their number of pregnancy losses. Diagnostic tests included the following 9 critiria： parental genetics, uterine anatomy, autoimmune factors, alloimmune factors, thrombophilic factors, endocrine parameters, genital infection, toxoplasma, rubella, cytomegalovirus, herpes （TORCH） titers and RH blood groups. The criteria for abnormal results were defined before diagnosis.Results We found that 87.1% （977/1122） patients had no more than 3 abnormal aspects, and the proportion of total abnormal results was similar among groups. The prevalence of abnormal results for each test did not differ among groups,except in the cases of parental genetics, uterine anatomy and presence of mixed lymphocyte reaction blocking antibodies （MLR-Bf）. Absence of MLR-Bf, as well as abnormally increased levels of CD3＋CD19＋ and CD56＋CD16＋ cells, was commonly detected in Chinese RPL patients.Conclusion Immunological disorders play an important role in RPL among Chinese patients.

关键词： spontaneous abortion etiology diagnosis

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The microbiome in inflammatory bowel diseases:from pathogenesis to therapy

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Protein & Cell 2021年第5期12卷 331-345页

作者： Sheng Liu Wenjing Zhao Ping Lan Xiangyu Mou Guangdong Provincial Key Laboratory of Colorectal and Pelvic Floor Diseases The Sixth Affiliated HospitalSchool of MedicineSun Yat-sen UniversityGuangzhou 510275China

Inflammatory bowel disease(IBD)has become a global disease with accelerating incidence worldwide in the 21st century while its accurate etiology remains unclear.In the past decade,gut microbiota dysbiosis has consistently been associated with IBD.Although many IBDassociated dysbiosis have not been proven to be a cause or an effect of IBD,it is often hypothesized that at least some of alteration in microbiome is protective or causative.In this article,we selectively reviewed the hypothesis supported by both association studies in human and pathogenesis studies in biological models.Specifically,we reviewed the potential protective bacterial pathways and species against IBD,as well as the potential causative bacterial pathways and species of IBD.We also reviewed the potential roles of some members of mycobiome and virome in IBD.Lastly,we covered the current status of therapeutic approaches targeting microbiome,which is a promising strategy to alleviate and cure this inflammatory disease.

关键词： inflammatory bowel disease pathogenesis etiology microbiome dysbiosis therapy

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Differences in individual susceptibility affect the development of trigeminal neuralgia

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Neural Regeneration Research 2013年第14期8卷 1337-1342页

作者： Yusuf Kurtulus Duransoy Mesut Mete Emrah Akay Mehmet Seluki Department of Neurosurgery Celal Bayar University School of Medicine Clinic of Neurosurgery Anamur State Hospital

Trigeminal neuralgia is a syndrome due to dysfunctional hyperactivity of the trigeminal nerve, and is characterized by a sudden, usually unilateral, recurrent lancinating pain arising from one or more divisions of the nerve. The most accepted pathogenetic mechanism for trigeminal neuralgia is compression of the nerve at its dorsal root entry zone or in its distal course. In this paper, we report four cases with trigeminal neuralgia due to an unknown mechanism after an intracranial intervention The onset of trigeminal neuralgia after surgical interventions that are unrelated to the trigeminal nerve suggests that in patients with greater individual susceptibility, nerve contact with the vascular structure due to postoperative pressure and changes in cerebrospinal fluid flow may cause the onset of pain.

关键词： neural regeneration peripheral nerve injury asymptomatic vascular compression of the cranialnerves cranial nerves dorsal root entry zone dorsal root exit zone etiology hyperactivedysfunction syndrome individual susceptibility risk factors trigeminal neuralgia neuroregeneration

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Clinical Characteristics of Bloodstream Infections in Pediatric Acute Leukemia： A Single-center Experience with 231 Patients

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Chinese Medical Journal 2017年第17期130卷 2076-2081页

作者： Jia-Feng Yao Nan Li Jin Jiang Hematology Oncology Center Beijing Key Laboratory of Pediatric Hematology OncologyNational Key Discipline of PediatricsMinistry of EducationBeijing Children's HospitalCapital Medical UniversityBeijing 100045China

Background：Acute leukemia is the most common pediatric hematological malignancy.Bloodstream infections （BSIs） are severe complications in these patients during chemotherapy.This study aimed to explore the clinical presentation and etiology of BSI,as well as the common sites of infection,and to provide a basis for the rational regarding antibiotic use.Methods：We performed a retrospective chart review of all pediatric patients who had acute leukemia accompanied by a BSI in our hospital from December 2011 to September 2015.All patients were selected based on clinical presentation and had to have at least one positive blood culture for inclusion.The basic clinical characteristics,blood culture results,and antimicrobial susceptibilities were analyzed.Results：All 231 patients had a fever;of them,12 patients continued to have a fever.Twenty-five patients had nonremitting （NR） leukemia,and 206 patients achieved complete remission （CR）.Differences in the duration of fever between the NR and CR groups were significant （9.6 ＆#177; 7.9 vs.5.1 ＆#177; 3.8 days,P =0.016）.One hundred and eighty patients had agranulocytosis.Differences in fever duration between the agranulocytosis and nonagranulocytosis groups were significant （6.2 ＆#177; 5.1 vs.4.1 ＆#177; 2.6 days,P =0.001）.The other sites of infection in these 231 patients were the lung,mouth,digestive tract,and rectum.Blood culture comprised 2635 samples.There were 619 samples,which were positive.Of the 619 positive blood culture samples,59.9% had Gram-negative bacteria,39.3% had Gram-positive bacteria,and 0.8% had fungus.The primary pathogens were Pseudomonas aeruginosa,Enterobactercloacae,Escherichia coli,and Klebsiella pneumoniae.Of these 231 patients,217 patients were cured.The effective treatment ratio was 94%.Conclusions：Gram-negative bacteria were the main pathogenic bacteria in patients with acute leukemia in our center.NR primary illness,agranulocytosis,and drug-resistant pathogenic bacteria were all risk factors for poor prognosis.

关键词： Acute Leukemia Agranulocytosis Bloodstream Infection etiology Pediatric

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Diagnosis of intellectual disability/global developmental delay via genetic analysis in a central region of China

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Chinese Medical Journal 2019年第13期132卷 1533-1540页

作者： Li-Hong Liao Chen Chen Jing Peng Li-Wen Wu Fang He Li-Fen Yang Ci-Liu Zhang Guo-Li Wang Pan Peng Yu-Ping Ma Pu Miao Fei Yin Department of Pediatrics Xiangya HospitalCentral South UniversityChangshaHunan 410008China Hunan Intellectual and Developmental Disabilities Research Center ChangshaHunan 410008China Department of Pediatrics Zhongnan Hospital of Wuhan UniversityWuhan UniversityWuhanHubei 430071China

Background:Advanced technology has become a valuable tool in etiological studies of intellectual disability/global developmental delay(ID/GDD).The present study investigated the role of genetic analysis to confirm the etiology in ID/GDD patients where the cause of the disease was uncertain in central China.Methods:We evaluated 1051 ID/GDD children aged 6 months to 18 years from March 2009 to April 2017.Data concerning basic clinical manifestations were collected,and the method of etiology confirmation was recorded.Genome-wide copy number variations(CNVs)detection and high-throughput sequencing of exons in the targeted regions was performed to identify genetically-based etiologies.We compared the incidence of different methods used to confirm ID/GDD etiology among groups with differing degrees of ID/GDD using the Chi-square or Fisher exact probability test.Results:We recruited 1051 children with mild(367,34.9%),moderate(301,28.6%),severe(310,29.5%),and profoundly severe(73,6.9%)ID/GDD.The main causes of ID/GDD in the children assessed were perinatal factors,such as acquired brain injury,as well as single gene imbalance and chromosomal gene mutation.We identified karyotype and/or CNVs variation in 46/96(47.9%)of cases in severe ID/GDD patients,which was significantly higher than those with mild and moderate ID/GDD of 34/96(35.4%)and 15/96(15.6%),respectively.A total of 331/536(61.8%)patients with clear etiology have undergone genetic analysis while 262/515(50.9%)patients with unclear etiology have undergone genetic analysis(x^2=12.645,Petiology from 51.0%to 56.3%,and second-generation high-throughput sequencing dramatically increased this to 78.9%.Ten novel mutations were detected,recessive mutations in X-linked genes(ATPase copper transporting alpha and bromodomain and WD repeat domain containing 3)and dominant de novo heterozygous mutations in X-linked genes(cyclin-dependent kinase like 5,

关键词： Intellectual disability Global developmental delay Children Gene analysis etiology

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Pediatric multisystem inflammatory syndrome associated with COVID-19: Insights in pathogenesis and clinical management

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World Journal of Virology 2023年第3期12卷 193-203页

作者： Marcel Silva Luz Fabian Fellipe Bueno Lemos Samuel Luca Rocha Pinheiro Hanna Santos Marques Luís Guilherme de Oliveira Silva Mariana Santos Calmon Karolaine da Costa Evangelista Fabrício Freire de Melo Instituto Multidisciplinar em Saúde Universidade Federal da BahiaVitória da Conquista 45029-094BahiaBrazil Campus Vitória da Conquista Universidade Estadual do Sudoeste da BahiaVitória da Conquista 45029-094BahiaBrazil

The pandemic caused by severe acute respiratory syndrome coronavirus 2(SARS-CoV-2)infection has been a major challenge to be faced in recent years.While adults suffered the highest morbidity and mortality rates of coronavirus disease 2019,children were thought to be exclusively asymptomatic or to present with mild conditions.However,around April 2020,there was an outbreak of a new clinical syndrome related to SARS-CoV-2 in children-multisystemic inflam-matory syndrome in children(MIS-C)-which comprises a severe and uncon-trolled hyperinflammatory response with multiorgan involvement.The Centers for Disease Control and Prevention considers a suspected case of MIS-C an individual aged2)organ involvement,no alternative plausible diagnoses,and positive for recent SARS-CoV-2 infection.Despite its severity,there are no definitive disease management guidelines for this condition.Conversely,the complex pathogenesis of MIS-C is still not completely understood,although it seems to rely upon immune dysregu-lation.Hence,in this study,we aim to bring together current evidence regarding the pathogenic mechanisms of MIS-C,clinical picture and management,in order to provide insights for clinical practice and implications for future research directions.

关键词： Pediatric multisystem inflammatory disease COVID-19 related Multisystem inflammatory syndrome in children COVID-19 SARS-CoV-2 etiology Disease management

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An effective initial polytherapy for children with West syndrome

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Neural Regeneration Research 2013年第17期8卷 1623-1630页

作者： Feiyong Jia Huiyi Jiang Lin Du Ning Li Ji Sun Chunbo Niu Department of Pediatorehabilitation Second Part of First Hospital Jilin University Department of Pathology China-Japan Union Hospital of Jilin University

Adrenocorticotropic hormone is recommended worldwide as an initial therapy for infantile spasms. However, infantile spasms in about 50% of children cannot be fully controlled by adrenocorticotropic hormone monotherapy, seizures recur in 33% of patients who initially respond to adrenocorticotropic hormone monotherapy, and side effects are relatively common during adrenocorticotropic hormone treatment. Topiramate, vitamin B6, and immunoglobulin are effective in some children with infantile spasms. In the present study, we hypothesized that combined therapy with adrenocorticotropic hormone, topiramate, vitamin B6, and immunoglobulin would effectively treat infantile spasms and have mild adverse effects. Thus, 51 children newly diagnosed with West syndrome including infantile spasms were enrolled and underwent polytherapy with the four drugs. Electroencephalographic hypsarrhythmia was significantly improved in a majority of patients, and these patients were seizure-free, had mild side effects, and low recurrence rates. The overall rates of effective treatment and loss of seizures were significantly higher in cryptogenic children compared with symptomatic children. The mean time to loss of seizures in cryptogenic children was significantly shorter than in symptomatic patients. These findings indicate that initial polytherapy with adrenocorticotropic hormone, topiramate, vitamin Be, and immunoglobulin effectively improves the prognosis of infantile spasms, and its effects were superior in cryptogenic children to symptomatic children.

关键词： neural regeneration brain injury West syndrome spasm etiology polytherapy adrenocorticotropichormone topiramate vitamin B6 intravenous immunoglobulin seizure-free electroencephalograph neuroregeneration

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Understanding of myofascial trigger points

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Chinese Medical Journal 2014年第24期127卷 4271-4277页

作者： Zhuang Xiaoqiang Tan Shusheng Huang Qiangmin Department of Rehabilitation Guangxi National Hospital Nanning Guangxi 530001 China Department of Sport Medicine and Pain Clinic Center of Sports Rehabilitation School of Sport Science Shanghai University of Sport Shanghai 200438 China

Objective To investigate the current practice of myofascial pain syndrome （MPS） including current epidemiology, pathology, diagnosis and treatment. Data sources The data analyzed in this review were mainly from relevant articles without restriction on the publication date reported in PubMed, MedSci, Google scholar. The terms ＂myofasial trigger points＂ and ＂myofacial pain syndrome＂ were used for the literature search. Study selection Original articles with no limitation of research design and critical reviews containing data relevant to myofascial trigger points （MTrPs） and MPS were retrieved, reviewed, analyzed and summarized. Results Myofascial pain syndrome （MPS） is characterized by painful taut band, referred pain, and local response twitch with a prevalence of 85% to 95% of incidence. Several factors link to the etiology of MTrPs, such as the chronic injury and overload of muscles. Other factors, such as certain nutrient and hormone insufficiency, comorbidities, and muscle imbalance may also maintain the MTrP in an active status and induce recurrent pain. The current pathology is that an extra leakage acetylcholine at the neuromuscular junction induces persistent contracture knots, relative to some hypotheses of integration, muscle spindle discharges, spinal segment sensitization, ect. MTrPs can be diagnosed and localized based on a few subjective criteria. Several approaches, including both direct and supplementary treatments, can inactivate MTrPs. Direct treatments are categorized into invasive and conservative. Conclusion This review provides a clear understanding of MTrP pain and introduces the most useful treatment approaches in China.

关键词： myofacial pain syndrome myofascial trigger points etiology pathology diagnosis treatment

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Therapy to Obese Type 2 Diabetes Mellitus:How Far Will We Go Down the Wrong Road?

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Chinese Journal of Integrative Medicine 2020年第1期26卷 62-71页

作者： HENG Xian-pei LI Xiu-jun LI Liang YANG Liu-qing WANG Zi-ta HUANG Su-ping Department of Endocrinology People's Hospital Affiliated to Fujian University of Traditional Chinese MedicineFuzhou 350004China West China Medical Center of Sichuan Medical University(West China University of Medical Science) Chengdu 610041China Academy of Integrative Medicine Fujian Fujian University of Traditional Chinese MedicineFuzhou 350122China

Traditional glucose-lowering chemical agents, including various types of insulin and insulin secretagogues, insulin sensitizers, gliptins, etc., are based on diabetic pathogenesis of insulin resistance(IR) and islet insufficiency. Numerous evidence-based medical studies have shown that these traditional hypoglycemic chemical agents do not provide cardiovascular benefit to patients with type 2 diabetes mellitus(T2 DM) and may even increase the risk of all-cause mortality. Based on research evidence published to date, these studies show that overload of energy could increase the incidence and prevalence of T2 DM, and reduction in the heat load can significantly reduce the incidence of T2 DM. Therefore, the essence of T2 DM is heat overload, meaning heat overload is the etiology of obese T2 DM. At the same time, results of numerous studies show that heat overloading is the cause of IR. IR and islet dysfunction are protective factors in intervening with heat overload.These drugs, which are based on the mechanisms of IR and islet insufficiency, increase caloric reserve and cause or worsen obesity, which is equivalent to exacerbating the basic etiology and the cardiovascular risk factor of T2 DM. Thus, a reasonable strategy for prevention and treatment of obese T2 DM appears to promote the negative balance of calories and the elimination of caloric reserves. Chinese herbal medicines can promote negative balance of heat in many aspects, which can bring new hope for prevention and treatment of T2 DM.

关键词： obese type 2 diabetes mellitus etiology prevention and treatment Chinese herbal medicine

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Genetic etiologies associated with infantile hydrocephalus in a Chinese infantile cohort

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World Journal of Pediatrics 2021年第3期17卷 305-316页

作者： Hong-Fang Mei Xin-Ran Dong Hui-Yao Chen Yu-Lan Lu Bing-Bing Wu Hui-Jun Wang Guo-Qiang Cheng Lai-Shuan Wang Yun Cao Lin Yang Wen-Hao Zhou Department of Neonatology Children's Hospital of Fudan UniversityNational Children's Medical CenterShanghaiChina Key Laboratory of Birth Defects Children’s Hospital of Fudan UniversityNational Children’s Medical CenterShanghaiChina Center for Molecular Medicine of Children’s Hospital of Fudan University Institutes of Biomedical SciencesFudan UniversityShanghaiChina Clinical Genetic Center Children’s Hospital of Fudan UniversityNational Children's Medical Center399 Wan Yuan RoadShanghai 201102China

Background Infantile hydrocephalus(IHC)is commonly related to other central nervous system diseases,which may have adverse effects on prognosis.The causes of IHC are heterogeneous,and the genetic etiologies are not fully understood.This study aimed to analyze the genetic etiologies of an IHC cohort.Methods The data for 110 IHC patients who had received exome sequencing at the Clinical Genetic Center of the Children's Hospital of Fudan University between 2016 and 2019 were reviewed and analyzed retrospectively.An exome-wide association analysis(EWAS)was performed within this cohort using IHC as the study phenotype.Results Of the 110 IHC patients,a pathogenic or likely pathogenic variant was identified in 16(15%)patients,spanning 13 genes.The genes were mainly associated with metabolic disorders,brain abnormalities,and genetic syndromes.IHC patients who had unclear clinical etiology were more likely to possess a genetic etiology.Based on previous studies and on our EWAS results,ZEB1,SBF2,and GNAI2 were over-represented among IHC patients and might alfect the signaling pathways involved in IHC formation.Conclusions Our study showed heterogeneous genetic etiologies in an IHC cohort.It is essential to perform genetic testing on IHC patients who have unclear clinical etiology,and genes associated with metabolic disorders,brain abnormalities,and genetic syndromes should he noted.In addition,when aiming to discover IHC susceptibility genes,genes that might influence the signaling pathways involved in IHC formation should be prioritized.

关键词： etiology Genetic Hydrocephalus Infantile

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