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Polymorphism of OAS2 rs739901 C/A Involves the Susceptibility to EV71 Infection in Chinese Children

Current Medical Science 2018年第4期38卷 640-647页

作者： Yu-xia TAN Hui WANG Hua LV Pei-pei LIU Shun-gang XIA Yu WANG Gao-yan WANG Ya GUO Ye-dan LIU Cheng-qing YANG Li-ping CHEN Zong-bo CHEN Department of pediatrics the Affiliated Hospital of Qingdao University Qingdao 266000 China Department of pediatrics Zibo Maternal and Child Health Hospital Zibo 255029 China Department of Clinical laboratory the Affiliated Hospital of Qingdao University Qingdao 266003 China

This study aimed to assess the relationship of OAS2 rs739901 5＇-flanking C/A polymorphisms with the susceptibility to Enterovirus-71 （EV71） infection. We investigated 294 hand-foot-mouth disease （HFMD） Chinese children with EV71 infection （165 mild cases and 129 encephalitis cases）. The improved multiplex ligation detection reaction （iMLDR） technique was used to test the genotypes. In EV71-infected patients, the CA genotype distribution （P=0.007）, A allele frequency （OR 1.32, 95% CI 1.0-1.7, P=0.034） and CA＋AA carriage frequency （P=0.003） of OAS2 rs739901 5＇-flanking were obviously elevated as compared with controls, but there were no statistically significant differences between mild cases and encephalitis cases. In EV71-infected patients, the counts of white blood cells （P=0.034） and blood glucose concentrations （P=0.042） were raised in A carriers （CA＋AA）. Among different genotypes of encephalitis cases, the contents of cerebrospinal fluid （CSF） showed no significant differences. IFN-7 levels in EV71-infected patients were higher than those in controls （mild group vs. control group, P〈0.01; encephalitis group vs. control group, P〈0.001）. In encephalitis cases, IFN-7 levels were reduced （P〈0.05） in A carriers compared to CC genotype, however, there were no significant differences between genotypes CA and AA （ P=0.226）. These findings suggest that OAS2 rs739901 5＇-flanking C/A genetic polymorphisms involve the susceptibility to EV71 infection, and A allele might be a risk factor of the susceptibility to EV-71 infection.

关键词： enterovirus-71 infection OAS2 rs739901 C/A polymorphism

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Intramuscular vs intradermal route for hepatitis B booster vaccine in celiac children

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World Journal of Gastroenterology 2012年第40期18卷 5729-5733页

作者： Salvatore Leonardi Andrea Domenico Praticò Elena Lionetti Massimo Spina Giovanna Vitaliti Mario La Rosa Department of pediatrics University of Catania

AIM： To compare intradermal （ID） and intramuscular （IM） booster doses, which have been used in healthy and high risk subjects, such as healthcare workers, haemodialysis patients, human immunodeficiency virus patients, and renal transplant recipients unresponsive to initial hepatitis B vaccination, in celiac individuals. METHODS： We conducted our study on 58 celiac pa- tients, vaccinated in the first year of life, whose blood analysis had showed the absence of protective hepati- tis B virus （HBV） antibodies. All patients had received the last vaccine injection at least one year before study enrolment and they had been on a gluten free diet for at least 1 year. In all patients we randomly performed an HBV vaccine booster dose by ID or IM route. Thirty celiac patients were revaccinated with recombinant hepatitis B vaccine （Engerix B） 2 μg by the ID route, while 28 celiac patients were revaccinated with Engerix B 10 μg by the IM route. Four weeks after every boost- er dose, the anti-hepatitis B surface （HBs） antibody titer was measured by an enzyme-linked immune- adsorbent assay. We performed a maximum of three booster doses in patients with no anti-HBs antibodies after the first or the second vaccine dose. The cut off value for a negative anti-HBs antibody titer was 10 IU/*** with values between 10 and 100 IU/L were considered ＂low responders＂ while patients with an antibody titer higher than 1000 IU/L were considered ＂high responders＂. RESULTS： No significant difference in age, gender, du- ration of illness, and years of gluten intake was found between the two groups. We found a high percent- age of ＂responders＂ after the first booster dose （ID = 76.7%, IM = 78.6%） and a greater increase after the third dose （ID = 90%, IM = 96.4%） of vaccine in both groups. Mloreover we found a significantly higher num- ber of high responders （with an anti-HBs antibody titer 〉 1000 IU/L） in the ID （40%） than in the IM （7.1%） group, and this difference was evident after the firs

关键词： Hepatitis B virus Non responders Intradermal route Intramuscular route Celiac disease

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Crohn's disease and recurrent appendicitis: A case report

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World Journal of Gastroenterology 2005年第43期11卷 6891-6893页

作者： Ron Shaoul Yosi Rimar Aurora Toubi Jorge Mogilner Reuven Polak Michael Jaffe Department of pediatrics Department of Radiology

The clinical diagnosis of classic Crohn's disease (CD)of the small bowel is based on a typical history, tender right lower quadrant fullness or mass, and characteristic radiographic findings of the terminal ileum. Appendicitis may as well present with chronic or recurrent symptoms and this presentation may be confused with CD. We herein describe the case of a young teenage girl with a presumptive diagnosis of CD, who was ultimately diagnosed as having chronic nongranulomatous appendicitis. The literature on the subject is reviewed.

关键词： Chronic appendicitis Crohn's disease Diagnosis Terminal ileitis Adolescent

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Physical rehabilitation for sensorineural hearing loss in childhood:Progress and challenges

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World Journal of Clinical Cases 2025年第7期13卷 57-62页

作者： Lu Zhang Pu-Jue Huang Xue Deng Jiao Tang Yang Zhai Tao Wang Department of pediatrics Luzhou Maternal and Child Health HospitalLuzhou 646600Sichuan ProvinceChina Department of pediatrics West China Second University HospitalSichuan UniversityChengdu 610041Sichuan ProvinceChina Department of pediatrics The First People's Hospital of Longquanyi DistrictChengdu 610100Sichuan ProvinceChina Ministry of Education Key Laboratory of Birth Defects and Related Diseases of Women and Children(Sichuan University)Chengdu 610041Sichuan ProvinceChina Department of pediatrics Chengdu Women’s and Children’s Central HospitalChengdu 610000Sichuan ProvinceChina

Early intervention for sensorineural hearing loss(SNHL)in childhood is crucial for auditory and language *** recent years,innovative auditory stimulation techniques and speech therapy strategies,such as middle ear implants,cochlear implants,auditory brainstem implants,and midbrain implants,have provided new avenues for improving patient ***,basic research advancements in cell reprogramming and regeneration,stem cell therapy,and targeted drug delivery offer promising approaches to meet the individualized needs of children with ***,many challenges and unresolved issues remain in the treatment of *** article comments on the case report,which describes a female pediatric patient with SNHL who underwent foot reflexology which led to the normalization of hearing *** is considered to have potential benefits in physical rehabilitation,but its efficacy in hearing restoration requires further scientific validation through rigorous clinical trials and large-scale prospective studies.

关键词： Sensorineural hearing loss Childhood Physical rehabilitation therapy Recent advances in rehabilitation techniques Reflexology

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Genetic Analysis of 17 Children with Hunter Syndrome:Identification and Functional Characterization of Four Novel Mutations in the Iduronate-2-Sulfatase Gene

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Journal of Genetics and Genomics 2014年第4期41卷 197-203页

作者： Dimitry A.Chistiakov Lyudmila M.Kuzenkova Kirill V.Savost’anov Anait K.Gevorkyan Alexander A.Pushkov Alexey G.Nikitin Nato D.Vashakmadze Natalia V.Zhurkova Tatiana V.Podkletnova Leila S.Namazova-Baranova Alexander A.Baranove Department of Medical Nanobiotechnology Pirogov Russian State Medical University Department of Molecular and Genetic Diagnostics Division of Laboratory MedicineInstitute of PediatricsResearch Center for Children’s Health Department of Psychoneurology and Psychosomatic Pathology Institute of PediatricsResearch Center for Children’s Health Institute of Preventive pediatrics and Rehabilitation Research Center for Children’s Health Research Center for Children’s Health

Mucopolysaccharidosis type II （MPS II） is a rare X-linked disorder caused by alterations in the iduronate-2-sulfatase （IDS） gene. In this study, IDS activity in peripheral mononuclear blood monocytes （PMBCs） was measured with a fluorimetric enzyme assay. Urinary glycosaminoglycans （GAGs） were quantified using a colorimetric assay. All IDS exons and intronic flanks were bidirectionally sequenced. A total of 15 mutations （all exonic region） were found in 17 MPS II patients. In this cohort of MPS II patients, all alterations in the IDS gene were caused by point nucleotide substitutions or small deletions. Mutations ***88His and ***172＊ occurred twice. All mu- tations were inherited except for ***489Alafs＊7, a germline mutation. We found four new mutations （***142Phe, ***233Gly, ***430＊, and ***360Tyrfs＊31）. In Epstein-Barr virus （EBV）-immortalized PMBCs derived from the MPS II patients, no IDS protein was detected in case of the ***142Phe and ***360Tyrfs＊31 mutants. For ***233Gly and ***430＊, we observed a residual expression of IDS. The ***233Gly and ***430＊ mutants had a residuary enzymatic activity that was lowered by 14.3 and 76-fold, respectively, compared with healthy controls. This observation may help explain the mild disease phenotype in MPS II patients who had these two mutations whereas the ***142Phe and ***360Tyrfs＊31 mutations caused the severe disease manifestation.

关键词： Hunter syndrome Mucopolysaccharidosis type II Iduronate-2-sulfatase Mutations Glycosaminoglycans

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Zinc transporter-3 expression and long-term cognitive impairments in a rat model of neonatal concurrent seizure

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Neural Regeneration Research 2009年第8期4卷 618-622页

作者： Hong Ni Yuwu Jiang Luyang Tao Zhenghong Qin Xiru Wu laboratory of Pediatric Neurology Institute of Pediatrics Children's Hospital Soochow University Laboratory of Aging and Nervous Disease Suzhou 215003 China Department of Pediatric Neurology First Hospital Peking University Beijing 100034 China

BACKGROUND： Developmental seizures, which are pathologically characterized by regenerative sprouting of hippocampal mossy fibers, cause long-term damaging effects to synaptic plasticity. Zn^2＋ metabolism has been shown to contribute to the regenerative sprouting of hippocampal mossy fibers Furthermore, zinc transporter-3 （ZnT3） is responsible for Zn^2＋ transport in the hippocampal mossy fiber pathway. OBJECTIVE： To investigate the effects of long-term recurrent neonatal seizures on learning, memory formation and hippocampal ZnT3 expression in rats. DESIGN, TIME AND SETTING： Based on molecular biological research and behavioral examination a randomized, controlled, animal experiment was performed at the laboratory Animal Center, Peking University Health Science Center, between October 2004 and July 2005. MATERIALS： Flurothyl was purchased from Aldrich Chemical Co., USA. ZnT3 mRNA in situ hybridization kits were provided by Tianjin Haoyang Biological Manufacture Co., Ltd., China. Morris water maze was produced by Shanghai Jiliang Science and Technology Co., Ltd., China. METHODS： Sixty, 6-day old, Wistar rats were randomly divided into three groups： single seizure （n = 21）, recurrent seizure （n = 21, one seizure daily for 6 consecutive days）, and control （n = 18）. Seizures were induced by flurothyl gas inhalation, in the single seizure and recurrent seizure groups. MAIN OUTCOME MEASURES： At postnatal days 12, 46 and 90, rat hippocampal ZnT3 mRNA expression was detected by RT-PCR; at postnatal days 46 and 90, ZnT3 mRNA expression was determined by in situ hybridization; and at postnatal days 41-46 and 85 90, rat spatial learning and memory formation were examined by the Morris water maze test. RESULTS： RT-PCR results revealed that at postnatal day 12, ZnT3 expression was significantly greater in the recurrent seizure group than in the control and single seizure groups, and at day 46, it was also significantly greater in the recurrent seizure group compared with the cont

关键词： zinc transporter-3 neonatal seizure Morris water maze learning memory

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Use of off-label nephrology-related drugs in hospitalized pediatric patients: a retrospective study

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World Journal of pediatrics 2016年第2期12卷 236-242页

作者： Marchella Yasinta Ruo-Chen Che Cai-Yu Hu Xiang-Hui Du Gui-Xia Ding Song-Ming Huang Ying Chen Ai-Hua Zhang Department of Nephrology Nanjing Children's Hospital Affiliated to Nanjing Medical UniversityNanjingChina Jiangsu Key laboratory of pediatrics NanjingChina

Background: The information about the use of off-labeldrugs in pediatric nephrology is still lacking, which leadsto increased adverse reactions and medical disputes. Weretrospectively analyzed the use of off-label drugs in thein-patient ward of the nephrology department of NanjingChildren's Hospital, China in order to provide morecomplete information about the use of drugs for ***: Proportional stratified random samplingwas applied to select patients with renal diseases aged 1month to 18 years, who were admitted to the hospital fromOctober 1, 2012 to September 30, 2013. All nephrologyrelateddrugs prescribed in the hospitalization period andtake-home drugs prescribed on discharge were recordedand evaluated as off-label drugs or not from threedifferent perspectives: person-time, prescription, anddrug ***: From 385 person-times of patients with 1424prescriptions, according to the ratio between off-labeldrugs and person-times, drug prescriptions, and drugproducts, the rates of off-label drugs were 40.78%, 16.64%,and 31.43%, respectively. Low-molecular-weight heparin,alfacalcidol and diltiazem were the most commonly usedoff-label drugs. Infants and younger children were thehigh-risk population of off-label drug use. The high rateoff-label nephrology-related drug use in children wasmainly related to lacking clinical research into drugs inchildren and the pace of drug label's revision, which cannotfollow the development of medical ***: Approximaely half of pediatric patientswith renal diseases are usually prescribed with off-labelnephrology-related drugs. Analyzing the off-label conditionsfrom different perspectives may lead to various *** clinical research into drugs for infants and youngerchildren is needed so as to update drug descriptions.

关键词： kidney off-label drug pediatrics

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Persistent hypertransaminasemia in asymptomatic children: A stepwise approach

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World Journal of Gastroenterology 2013年第18期19卷 2740-2751页

作者： Pietro Vajro Sergio Maddaluno Claudio Veropalumbo Department of Medicine and Surgery Pediatrics University of Salerno 84081 Baronissi Italy European laboratory for Food Induced Disease 84081 Baronissi Italy Department of Translational Medical Sciences Pediatrics Medical School of the University of Naples "Federico Ⅱ" 80131 Naples Italy

We aimed to examine the major causes of isolated chronic hypertransaminasemia in asymptomatic children and develop a comprehensive diagnostic flow diagram. A MEDLINE search inclusive of publications throughout August 2012 was performed. We found only a small number of publications that had comprehensively investigated this topic. Consequently, it was difficult to construct a diagnostic flowchart similar to those already available for adults. In children, a "retesting panel" prescription, including gamma-glutamyl transpeptidase and creatine kinase in addition to aminotransferases, is considered a reasonable approach for proficiently confirming the persistence of the abnormality, ruling out cholestatic hepatopathies and myopathies, and guiding the subsequent diagnostic steps. If re-evaluation of physical and historical findings suggests specific etiologies, then these should be evaluated in the initial enzyme retesting panel. A simple multistep diagnostic algorithm incorporating a large number of possible pediatric scenarios, in addition to the few common to adults, is available. Accurately classifying a child with asymptomatic persistent hypertransaminas-emia may be a difficult task, but the results are critical for preventing the progression of an underlying, possibly occult, condition later in childhood or during transition. Given the high benefit/cost ratio of preventing hepatic deterioration, no effort should be spared in diagnosing and properly treating each case of persistent hypertransaminasemia in pediatric patients.

关键词： Transaminase Aminotransferase Hyper-transaminasemia Liver disease Children

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Neuroanatomy of lower gastrointestinal pain disorders

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World Journal of Gastroenterology 2014年第4期20卷 1005-1020页

作者： Wim Vermeulen Joris G De Man Paul A Pelckmans Benedicte Y De Winter laboratory of Experimental Medicine and pediatrics Division of Gastroenterology Faculty of Medicine and Health Sciences University of Antwerp Division of Gastroenterology and Hepatology Antwerp University Hospital

Chronic abdominal pain accompanying intestinal inflammation emerges from the hyperresponsiveness of neuronal,immune and endocrine signaling pathways within the intestines,the peripheral and the central nervous *** this article we review how the sensory nerve information from the healthy and the hypersensitive bowel is encoded and conveyed to the *** gut milieu is continuously monitored by intrinsic enteric afferents,and an extrinsic nervous network comprising vagal,pelvic and splanchnic *** extrinsic afferents convey gut stimuli to second order neurons within the superficial spinal cord *** neurons cross the white commissure and ascend in the anterolateral quadrant and in the ipsilateral dorsal column of the dorsal horn to higher brain centers,mostly subserving regulatory *** the supraspinal regions and the brainstem,pathways descend to modulate the sensory *** of this multiple level control,only a small proportion of gut signals actually reaches the level of consciousness to induce sensation or *** inflammatory bowel disease(IBD)and irritable bowel syndrome(IBS)patients,however,long-term neuroplastic changes have occurred in the brain-gut axis which results in chronic abdominal *** sensitization may be driven on the one hand by peripheral mechanisms within the intestinal wall which encompasses an interplay between immunocytes,enterochromaffin cells,resident macrophages,neurons and smooth *** the other hand,neuronal synaptic changes along with increased neurotransmitter release in the spinal cord and brain leads to a state of central *** life factors such as but not limited to inflammation and stress contribute to *** together,the degree to which each of these mechanisms contribute to hypersensitivity in IBD and IBS might be diseaseand even *** of sensitization throughout animal and human studies may significantly improve our understanding of sensit

关键词： Afferent nerves Chronic pain Inflammatory bowel disease Irritable bowel syndrome Sensitisation Sensory nerves Visceral hypersensitivity

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Molecular docking studies of human MCT8 protein with soy isoflavones in Allan-Herndon-Dudley syndrome(AHDS)

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Journal of Pharmaceutical Analysis 2018年第5期8卷 318-323页

作者： Divya Shaji Department of pediatrics Aichi Medical University

Monocarboxylate transporter-8 （MCT8） is a specific thyroid hormone transporter, essential for the uptake of thyroid hormone into target tissues. Mutations in the MCT8 gene have been identified as the cause of Allan-Herndon-Dudley syndrome （AHDS）. It has been reported that soy isoflavones influence thyroid hormone system and can interact with thyroid hormone transporter proteins. Therefore, the present study aimed to find out whether soy isoflavones （genistein, daidzein and glycitein） can be used as a natural inhibitor to target MCT8 in AHDS. Docking studies were performed for soy isoflavones in order to evaluate their binding affinity to MCT8 protein using AutoDock4 （version 4.2.6） and AutoDock Vina. After docking, the ligands were ranked according to their binding energy and the best lead compound was selected based on the least binding energy. The docking results indicated that daidzein possesses the lowest binding energy against MCT8. Moreover, it was found that the residues PRO-338, HIS-341, and GLU-348 were involved in hydrogen bond interactions with genistein and daidzein. This study suggests that daidzein is a promising natural inhibitor to target MCT8 in AHDS.

关键词： Molecular docking MCT8 AHDS Soy isoflavones Daidzein Genistein

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