1.Ring chromosome 20 syndrome.
Chinese Journal of Pediatrics 2013;51(9):710-712
Anticonvulsants
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administration & dosage
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therapeutic use
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Brain
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diagnostic imaging
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physiopathology
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Child
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Child, Preschool
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Chromosome Deletion
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Chromosome Disorders
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diagnosis
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genetics
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Chromosomes, Human, Pair 20
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genetics
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Electroencephalography
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Epilepsy
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diagnosis
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drug therapy
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genetics
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Epilepsy, Complex Partial
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diagnosis
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drug therapy
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genetics
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Humans
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Karyotyping
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Radiography
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Ring Chromosomes
2.Neurotoxicity and biomarkers of lead exposure: a review.
Kang-sheng LIU ; Jia-hu HAO ; Yu ZENG ; Fan-chun DAI ; Ping-qing GU
Chinese Medical Sciences Journal 2013;28(3):178-188
Appropriate selection and measurement of lead biomarkers of exposure are critically important for health care management purposes, public health decision making, and primary prevention synthesis. Lead is one of the neurotoxicants that seems to be involved in the etiology of psychologies. Biomarkers are generally classified into three groups: biomarkers of exposure, effect, and susceptibility.The main body compartments that store lead are the blood, soft tissues, and bone; the half-life of lead in these tissues is measured in weeks for blood, months for soft tissues, and years for bone. Within the brain, lead-induced damage in the prefrontal cerebral cortex, hippocampus, and cerebellum can lead to a variety of neurological disorders, such as brain damage, mental retardation, behavioral problems, nerve damage, and possibly Alzheimer's disease, Parkinsons disease, and schizophrenia. This paper presents an overview of biomarkers of lead exposure and discusses the neurotoxic effects of lead with regard to children and adults.
Alzheimer Disease
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chemically induced
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metabolism
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pathology
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physiopathology
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psychology
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Animals
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Behavior
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drug effects
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Biomarkers
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metabolism
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Brain
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metabolism
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pathology
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physiopathology
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Brain Diseases
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chemically induced
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pathology
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physiopathology
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Environmental Exposure
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adverse effects
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Humans
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Lead
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pharmacokinetics
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toxicity
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Lead Poisoning
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etiology
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metabolism
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pathology
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physiopathology
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psychology
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Neurotoxicity Syndromes
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etiology
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metabolism
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pathology
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physiopathology
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psychology
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Parkinson Disease, Secondary
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chemically induced
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metabolism
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pathology
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physiopathology
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psychology
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Schizophrenia
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chemically induced
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metabolism
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pathology
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physiopathology
3.Inducement, Purification and Characterization of?-mannanase from Armillariella tabescens EJLY2098
Dong-Sheng YAO ; Xiao-Kui HUANG ; Da-Ling LIU ; Chun-Fang XIE ; Rong HU ;
China Biotechnology 2006;0(07):-
Armillariella tabescens EJLY2098 was capable of secreting p-mannanase by konjac inducement. A 34 orthogonal design was applied to determine the optimum medium of inducing mannanase by Armillariella tabescens EJLY2098. The results suggested that Armillariella tabescens EJLY2098 secreted the high-activity enzyme in the optimum medium, which was composed of 2% konjac, 1% peptone, 25% potato juice,0.3% KH2PO4,15% MgSO4?7H2O, 0.01% VitB1. Purified by DEAE-anion exchange chromatography, two eluting peaks (P1 and P2) with the p-mannanase activity were obtained, and one of them (named?-mannanase P2) was a single band by the SDS-PAGE, and the molecular weight of?-mannanase P2 was 78. 9kDa. The isoelectric point of?-mannanase P2 was estimated to be 4.0-4. 1. The optimum activity for the enzyme was found at 60℃and pH4. 0 - 6. 0, and the enzyme was stable between pH4. 5 - 6. 0. The activity of?-mannanase P2 were enhanced by Na+ and Ba2+ . This?-mannanase can be used in feed industy. a new fungi secreting?-mannanase was obtained, providing an important base for cloning mannanase gene and constructing recombin microbe expressing?-mannanase .
4.Influence of long-time illumination of monochromatic light on density of cones and opsin expression in guinea pig
Min, HU ; Yong-song, LIU ; Rui, LIU ; Chun-guang, JIANG ; Ren-yuan, CHU ; Yuan-sheng, YUAN
Chinese Journal of Experimental Ophthalmology 2011;29(3):196-201
Background The visual system of animal have to optimally adjust in various environmental conditions in order to obtain stable and effective visual funetion.However,the color vision system of animals which encounter uncertainty of spectral signals should be plastic.Whether the densities of various cones and expression of opsins change with long-time spectral deprivation is unclear.Objective This study was to investigate the changes of cone density as well as the expression of corresponding opsin and mRNA following the long-term illumination of monochromatic light.Methods Thirty 3-day-old guinea pigs were randomized into 3 groups and exposed tO the 530 nm green light,400 nm purple light and white light for consecutive 8 weeks respectively.The flat-mounted retinal sample was prepared and divided into dorsal zone,ventral zone and mixed zone anatomically according to the distribution of difierent light-sensitive cone.The changes in density of cone cells sensitivited to different colored light were detected by single-1abel or double-label immunocytochemistry.The levels of opsin and its mRNA were determined using Western-blot and real-time PCR respectively.Results The density of green-sensitivity cones was significantly different in the dorsal zone of retina among green light group,purple light group and white light group (F=234.28,P<0.01).Compared with white light group,the density of green-sensitive cones in dorsal retina of green light group was obviously higher but that of purple light group wag evidently lower(q=389.68,P<0.01;q=67.11,P<0.01).No significant difference was found in the density of purple-sensitive cones in the ventral zone of retina among green light group,purple light group and white light group(F=3.14,P>0.05).The density of coexpression of the mixed cone cells was increased in green light group(q=157.55,P<0.01)but decreased in purple light roup (q=254.85,P<0.01)in comparison with white light group.The expression levels of green-opsin and green-opsin mRNA in green light group was significantly elevated(q=184.45,P<0.01;q=4.71,P<0.05),but those of purple light group were evidently declined(q=5.87,P<0.05;q=346.66,P<0.01)in comparison with white light group.There was no statistically significant differences were found in the expression of purple-opsin and its mRNA among all the groups(F=1.24,P>0.05;F=3.27,P>0.05).Conclusion After the exposure of long-time monochromatic light illumination,monochromatic cones density and its opsin in guinea pig occur the corresponding alteration to gain good spatial vision as a compensatory reaction.These outcomes imply that there is some plasticity during the development of color vision.The increase of green-sensitive cones might be from the differentiation of coexpression cones in transition region.
5.Analysis on disease burden of occupational coal workers′ pneumoconiosis in Anhui Province
HU Qiong CHEN Bao chun HU Xun jia XIE Qiao mei ZHA Wan sheng SONG Yuan chao
China Occupational Medicine 2022;49(06):635-639
Objective
To analyze the disease burden caused by occupational coal workers' pneumoconiosis (CWP) in Anhui
Methods
Province. A total of 1 649 patients with occupational CWP diagnosed in Anhui Province from 1950 to 2019 were
selected as the study subjects using a retrospective study method. Age, gender, survival time, location, working age of disease
onset, age of death, stage and date of diagnosis of CWP, comorbidities at the time of investigation, hospitalization and outpatient
expenses in the past year, cost of absence from work, cost of absence from work of caregivers, and cost of nutrition and
transportation were investigated. The years of life lost, years lived with disability (YLDs), disability adjusted life years (DALYs)
Results
and economic losses were calculated. Among these patients, 1 405 cases survived and 244 cases died. In the age range
- - -
of 20.0 70.0 years, the YLDs of surviving patients were 2.12 22.20 (8.19±3.59) person years. The YLDs of patients with disease
vs - P
complications was higher than that of patients without complications [(8.55±3.95) (7.87±3.21) person years, <0.01]. The total
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DALYs of the patients was 14 031.59 person years, and the average per capita DALYs was 8.51 person years. Its YLDs
accounted for 82.0 % of the total DALYs. The total economic loss caused by CWP in the 1 405 surviving patients was 354.903 0
Conclusion
million yuan, and the average per capita economic loss was 252 600 yuan. The disease burden caused by CWP is
relatively high in Anhui Province. In addition to early detection, diagnosis and treatment, it is necessary to focus on prevention
and treatment of CWP complications to reduce the disease burden.
6.An atypical case of mitochondrial acetoacetyl-CoA thiolase deficiency
Chun-Hui Hu ; Qiao-Qiao Qian ; Hong-Min Zhu ; Dan Sun ; Shu-Hua Wu ; Ge-fei Wu ; Jia-Sheng Hu ; Zhi-Sheng Liu
Neurology Asia 2017;22(2):165-169
Methylacetoacetyl-CoA thiolase deficiency (T2 deficiency) is a rare congenital and metabolic disease
affecting the ketone body and isoleucine metabolism. The typical symptoms are refractory metabolic
acidosis, in which large amounts of 2-methyl-3-hydroxybutyry1 carnitine, 2-methyl-3-hydroxybutyrate
and tiglylglycine are often detected in the blood and urine. We herein describe an atypical case of T2
deficiency with a high level of 3-hydroxybutyrate and a low level of 2-methyl-3-hydroxybutyrate in
the urine. Such a case was diagnosed by urinary organic analysis in combination with gene mutation
evaluation. Organic acids in the urine were measured using a gas chromatography mass spectrometer
and all exons were sequenced via deep sequencing. Molecular biology analysis confirmed the presence
of a homozygous mutation in the acetyl-CoA acetyltransferase 1 (ACAT1) gene. The patient received a
special diet of deeply hydrolyzed protein milk powder and raw corn starch. She was followed about 6
months. There were no ketoacidotic episodes and hypoglycemia even when she had fever. In conclusion,
patients with atypical features of T2 deficiency should also be investigated early. Gas chromatography
mass spectrometry and next-generation full exome sequencing may be helpful in diagnosis.
7.Gene transfection of NGF and/or Noggin affecting the differentiation of bone marrow-derived mesenchymal stem cells
Jie DING ; Shan GAO ; Yon CHENG ; Chun-Sheng ZHANG ; Xi-Qing HU
Chinese Journal of Neuromedicine 2010;9(6):553-557
Objective To explore the feasibility of exogenous NGF and/or Noggin gene transfecting into the bone marrow-derived mesenchymal stem cells (BMSCs) and observe the differentiation of BMSCs modified by NGF and/or Noggin.Methods BMSCs were isolated from SD rat and purified by adherent method and these cells were identified by their phenotypical properties and their abilities of differentiating into adipocytes.Ad-GFP-NGF and/or Ad-GFP-Noggin were transfected into BMSCs.The protein expressions of NGF and/or Noggin were detected using immunocytochemistry and Western blotting.The differentiations of gene modified BMSCs were observed by immunohistochemistry.Result The cells selected by adherent method had basic phenotypical properties of BMSCs and could differentiate into adipocytes.BMSCs without transfection and those transfected with Ad-GFP expressed low level of NGF without Noggin expression.All gene modified BMSCs could express NGF and/or Noggin.After transfection, BMSCs could differentiate into cells having neuronal morphology and expressing NF (H).The combined transfection group had the highest ratio of NF(H)+ cells among all the groups.Conclusion BMSCs can be isolated and purified from rat bone marrow by adherent method.Ad-GFP-NGF and/or Ad-GFP-Noggin can transfect BMSCs safely and the transfected cells can express those proteins persistently and efficiently.NGF and Noggin can induce BMSCs into neuron-like cells in vitro and when they exist simultaneously,the differentiation is further enhanced.
9.Vasospasm after subarachnoid hemorrhage:diagnosis with MR angiography and CT angiography
Yuan-Ming HU ; Chun-Sheng LI ; Bing YU ; Cheng-Lin WANG ; Li-Zhen WANG ; Han-Qing LV ;
Chinese Journal of Primary Medicine and Pharmacy 2006;0(08):-
Objective To evaluate the efficacy of MR angiogrphy(MRA) for detecting cerebral vasospasm after subarachnoid hemorrage(SAH) and compare it with spiral CT angiography(CTA).Methods Ten patients with SAH under MRA and CTA studies were performed within 24 hours after MRA,which was performed 5 to 10 days after SAH.Maximum intensity projection(MIP) images were produced for MRA and CTA studies.Five arterial locations were examined for spasm:the suprasellar internal carotid artery(ICA),the M1 and M2 segments of the middle cerebral artery(MCA),the A1 and A2 segments of the anterior cerebral artery(ACA).Vasospasm was cate- gorized as none,mild(50 % reduction).Results The overall correlation between MRA and CTA was 82 %(r=0.76),but it was better for proximal than distal lo- cations vessels.Agreement between MRA and CTA was greater for no spasm(89%) and severe spasm(100%)(r= 0.85~0.91)than for mild(56%)or moderate(67%)spasm(r=0.21~0.51).Conclusion MRA is highly accu- rate in the detecting no spasm or severe cerebral vasospasm in proximal arterial locations vessels;it is less accurate in detecting mild and moderate spasm in distal locations vessels.
10.Treatment of atrophic rhinitis by transplantation of pediculated bone-suberiosteal muscle flap
Yong-Gan WANG ; Qian-Mei SHI ; Yan-Hong WANG ; Chun-Jiu HU ; Zhong-Ming LIN ; Tao GUO ; Rong-Sheng NI ;
Chinese Journal of Primary Medicine and Pharmacy 2006;0(10):-
Objective To explore a better method for treatment atrophic rhinitis.Methods 56 patients with atrophic rhinitis(96 lateral)were treated by nasal submucou pediculated bone-suberiosteal muscle flap extracted from anterior wall of sinus maxillaries.Results All patients were followed 2 to 10 years,total effective rate was 100 %, with 49 cases(87.5 %)showing prominent effect.Conclusion The grafted flap cannot be assimilated,felled off and necrosis,because the flap has rich blood supply.This methods has obvious short-term effective and stable long-term effective.No complications were found.