2.Novel Variants in the FIG4 Gene Associated With Chinese Sporadic Amyotrophic Lateral Sclerosis With Slow Progression
Chang-Yun LIU ; Ji-Lan LIN ; Shu-Yan FENG ; Chun-Hui CHE ; Hua-Pin HUANG ; Zhang-Yu ZOU
Journal of Clinical Neurology 2022;18(1):41-47
Background:
and Purpose Mutations in the FIG4 gene have been linked to amyotrophic lateral sclerosis (ALS) type 11 in Caucasian populations. The purpose of this study was to identify FIG4 variants in a cohort of 15 familial ALS (FALS) indexes and 275 sporadic ALS (SALS) patients of Han Chinese origin.
Methods:
All 23 exons of FIG4 were sequenced using targeted next-generation sequencing.An extensive literature review was performed to detect genotype-phenotype associations of FIG4 mutations.
Results:
No FIG4 variants were identified in the FALS patients. One novel heterozygous missense variant (c.352G>T [p.D118Y]) and one novel heterozygous nonsense variant (c.2158G>T [p.E720X]) in FIG4 were identified in two SALS patients. The p.E720X variant is interpreted as likely pathogenic while the p.D118Y variant is a variant of uncertain significance. The patient carrying the p.E720X mutation developed lower-limb-onset slowly progressive ALS, and survived for 11.5 years. The patient harboring the FIG4 p.D118Y variant also presented with progressive ALS, with the score on the ALS Functional Rating Scale–Revised (ALSFRS-R) decreasing by 0.4 per month. The rate of decrease in the ALSFRS-R scores from symptom onset to diagnosis seemed to be lower in the patients carrying FIG4 variants than the no-FIG4-mutation ALS patients in this study.
Conclusions
Our findings suggest that ALS patients carrying FIG4 mutations are not common in the Chinese population and are more likely to exhibit slow progression.
3.Correlation analysis of cognitive function and changes in proton magnetic resonance spectroscopy of the hippocampus in patients with complex partial seizures
Bing YE ; Hua-Pin HUANG ; Chun-Hui CHE ; Ji-Lan LIN
Chinese Journal of Neuromedicine 2010;9(2):158-161
Objective To investigate the features of cognitive impairment in patients with complex partial seizures (CPS) and the correlation between the cognitive function and proton magnetic resonance spectroscopy (~1H-MRS). Methods Forty-five patients with CPS and 16 healthy controls were examined by the following means: memory function examination by the clinical memory scale, intelligence function examination by Ravin's standard progressive Matrices (R'SPM) and ~1H-MRS scan in the bilateral hippocampus. Memory quotient (MQ), Intelligence quotient (IQ), the levels ofNAA, Cho, Cr and the ratio of NAA/Cr+Cho were compared between the two groups. Meanwhile, the correlation coefficients were calculated. Results The scores of pointing memory, associational learning, image free memory, association memory of portrait and MQ except insignificant figure recognition were significantly lower in patients with CPS than those in the control group (P<0.05); the scores of Ravin's standard progressive matrices and IQ were noticeably lower in patients with CPS than those in the controls. The levels of NAA, Cho, Cr and the ratio of NAA/Cr+Cho in patients with CPS were significantly lower than those in the controls (P<0.05). Patients with CPS showed positive correlation between MQ and the level ofNAA, MQ and the ratio ofNAA/Cr+Cho, IQ and the level of NAA, as well as IQ and the ratio ofNAA/Cr+Cho (P<0.05); while level of Cho and both MQ and IQ were in inverse proportion (P<0.05) and no correlation between the lever of Cr and both MQ and IQ was found in patients with CPS (P>0.05). Conclusions The patients with CPS do have the cognitive impairment including short-term memory deficit and the decreased ability of abstraction, maturity judgment and reasoning. The correlation between cognitive function and the levels ofNAA, Cho, Cr and the ratio of NAA/Cr+Cho indicated that ~1H-MRS can check the cognitive function of patients with CPS in early stage objectively. Together with neuropsychology examination, ~1H-MRS can detect the disturbance of cognitive function in the patients with CPS precisely in early stage.
4.Clinical study of heparin-induced thrombocytopenia.
Jing-hua WANG ; Chun-ying WANG ; Rui XIE ; De-hai CHE ; Rui-chun JIA ; Wei JU ; Mei-juan MIAO ; Hui WANG ; Yan JIANG ; Dong-xia TONG
Chinese Journal of Hematology 2011;32(2):115-117
OBJECTIVETo observe the incidence of heparin-induced thrombocytopenia (HIT) in patients received unfractionated heparin (UFH) treatment, and explore the feasibility of monitoring HIT by platelet counts, as well as the significance of HIT-antibody test in HIT diagnosis.
METHODS145 patients received UFH treatment in Vascular Surgery Department were studied. Before and after the UFH treatment, platelet counts, HIT-antibody ELISA test and heparin-induced platelet aggregation (HIPA) were tested.
RESULTSAmong the 145 patients, thrombocytopenia occurred in 40 (27.6%) cases, HIT-antibody ELISA test positive in 59 (40.7%) cases, HIPA test positive in 26 (17.9%) cases. The HIT was diagnosed in 24 (16.5%) cases, and heparin-induced thrombocytopenia and thrombosis (HITTS) occurred in 5 (3.4% in all cases, and 20.8% in HIT patients). In HIT patients, 15 patients (62.5%) were thrombocytopenia, HIT-antibody positive and HIPA test positive. Platelet counts in all of the 24 patients recovered to normal or level before UFH treatment in 3-6 days after heparin withdrawal therapy.
CONCLUSIONHIT can be early diagnosed by monitoring platelet counts, HIT-antibody ELISA test and HIPA test. Withdrawal of heparin therapy in time and use of alternative anticoagulant, HITTS rate might be expected to decline further.
Adult ; Aged ; Anticoagulants ; adverse effects ; Enzyme-Linked Immunosorbent Assay ; Female ; Heparin ; adverse effects ; Humans ; Male ; Middle Aged ; Platelet Aggregation ; Platelet Count ; Thrombocytopenia ; chemically induced ; diagnosis
5.Evaluation of brain dysfunction in chronic anoxic encephalopathy with evoked potentials.
Hua-Pin HUANG ; Jiang-Pei ZHAO ; Sheng-Gen CHEN ; Chun-Hui CHE ; An ZHENG ; Fang JIANG
Chinese Journal of Applied Physiology 2008;24(3):301-305
AIMTo explore the relationship between evoked potentials (EPs) and chronic anoxic brain damage by chronic intermittent hypoxia (CIH), and provide theory evidence for diagnosis and treatment of anoxic encephalopathy.
METHODSBAEP and SLSEP were recorded in rat model with CIH (hypoxia group) and rat with normoxia (normal group). Morris water maze was used to observe learning and memory ability. Immunohistochemical method was used to investigate the expression levels of caspase-3 in brain tissue.
RESULTSThe peak latency (PL) of wave I, III, V and the interpeak latency (IPL) of wave III - V, I - V in BAEP in hypoxia group were much longer than that of in normal group (P < 0.05). The PL of wave N1, P1 of SEP in hypoxia group were much longer than that of in normal group (P < 0.05). In the water mase test, the escape latency (EL) of hypoxia group was much longer than normal group (P < 0.01). The number of caspase-3 positive cells in hypoxia group was much larger than that of in normal group (P < 0.05). There was a positive correlation among BAEP, SLSEP, the number of caspase-3 positive neuron and EL of water mase.
CONCLUSIONThe alteration of BAEP and SLSEP has an apparent correlation with chronic anoxic brain damage. This provides theory evidence for diagnosis and treatment of anoxic encephalopathy.
Animals ; Brain ; enzymology ; pathology ; physiopathology ; Caspase 3 ; genetics ; metabolism ; Chronic Disease ; Evoked Potentials, Auditory, Brain Stem ; physiology ; Evoked Potentials, Somatosensory ; physiology ; Hypoxia, Brain ; physiopathology ; Male ; Maze Learning ; Random Allocation ; Rats ; Rats, Sprague-Dawley
6.Tyroservatide inhibits the growth of human hepatocarcinoma in nude mice.
Jung JIA ; Rong LU ; Zheng FU ; Shuang QIU ; Lin-Xi SHI ; Xu JIAN ; Jun-Yan LIU ; Hui-Qiang LI ; Xu-Chun CHE ; Zhi YAO
Chinese Journal of Oncology 2006;28(6):426-428
OBJECTIVETo investigate the inhibitory effects of tyroservatide and its amino acid mixture on growth of hepatocarcinoma.
METHODSHepatocarcinoma in nude mice was induced by implantation of cells of human hepatocarcinoma cell line BEL-7402. The inhibition of hepatocarcinoma growth was determined by calculating the tumor volume and measuring the tumor weight. The effects of tyroservatide on tumor cells in nude mice were assessed by immunohistochemical staining of proliferating cell nuclear antigen (PCNA), electron microscopic observation of ultrastructure, and apoptosis of tumor cells using terminal deoxynucleotidyl transferase biotin-dUTP nick end labeling (TUNEL).
RESULTSTyroservatide significantly inhibited the growth of human hepatocarcinoma in nude mice, with an inhibiting rate more than 60%. But the mixture of amino acid did not show a significant inhibitory effect on the tumor growth. Tyroservatide also induced apoptosis of tumor cells and decreased the expression of PCNA in tumor cells.
CONCLUSIONTyroservatide may significantly inhibit the growth of human hepatocarcinoma in nude mice by inducing apoptosis and inhibiting proliferation of tumor cells.
Animals ; Antineoplastic Agents ; pharmacology ; Apoptosis ; drug effects ; Cell Line, Tumor ; Cell Proliferation ; drug effects ; Humans ; Liver Neoplasms ; metabolism ; pathology ; prevention & control ; Liver Neoplasms, Experimental ; metabolism ; pathology ; prevention & control ; Mice ; Mice, Inbred BALB C ; Mice, Nude ; Oligopeptides ; pharmacology ; Proliferating Cell Nuclear Antigen ; metabolism ; Tumor Burden ; Xenograft Model Antitumor Assays
7.Chest radiographic findings in children with 2009 influenza A (H1N1) virus infection.
Yu-chun YAN ; Feng-sen BAI ; Hui-zhong CHEN ; Li CHE ; Xin-yu YUAN ; Dong QU ; Xiao-xu REN ; Bao-yuan ZHANG ; Yu SUN ; Ping FANG
Chinese Journal of Pediatrics 2011;49(2):157-160
OBJECTIVETo evaluate chest radiographic findings of children with 2009 influenza (H1N1) virus infection.
METHODData of 235 patients who had microbiologically confirmed H1N1 infection and available chest radiograph obtained between May 1(st) 2009 and Jan. 31(st) 2010 were retrospectively analyzed. The final study group was divided on the basis of clinical course [group 1 mild, outpatients without hospitalization (n = 172); group 2 moderate, inpatients with brief hospitalization (n = 49); group 3 severe, ICU admission (n = 14)]. Four pediatric radiologists reviewed all the chest radiographs of lung parenchyma, airway, pleural abnormalities and also anatomic distribution of the disease.
RESULTNo significant sex or age differences were found among the study groups (P > 0.05). The mean interval between the onset of clinical symptom and the initial chest radiography was (5.91 ± 1.64) days (group 1), (3.60 ± 1.43) days (group 2) and (1.21 ± 0.41) days (group 3), respectively. The differences among the three groups were significant statistically (χ(2) = 13.368, P < 0.01). The ratio of abnormality presented at initial chest X-ray was 79.7% in group 1, 91.8% in group 2 and 100% in group 3. Radiographically, there were prominent peribronchial markings (group 1, 55.2%; group 2, 83.7%; and group 3, 78.6%), consolidation (group 1, 34.3%; group 2, 69.4%; and group 3, 100.0%), hyperinflation (group 1, 22.1%; group 2, 44.9%; and group 3, 50.0%) and ground glass opacity (group 1, 0.6%; group 2, 2.0%; and group 3, 14.3%) in the chest radiographs. The differences of presenting were statistically significant (P < 0.01). In the severe group, the lesions distributed diffusely and asymmetrically with multi-lobe involvements.
CONCLUSIONIn children with 2009 influenza A H1N1 viral infection, the interval between the onset of clinical symptom and initial chest radiography, the ratio of abnormality presented at initial chest X-ray film and the severity of chest film are parallel to their clinical situation.
Child ; Child, Preschool ; Female ; Humans ; Infant ; Infant, Newborn ; Influenza A Virus, H1N1 Subtype ; Influenza, Human ; diagnostic imaging ; virology ; Male ; Retrospective Studies ; Tomography, X-Ray Computed
8.Comparing the antibody titers of sequential program of Sabin strain-based inactivated poliovirus vaccine followed by bivalent types 1 and 3 oral poliovirus vaccine in different dosage forms
Zhi-mei ZHAO ; Teng HUANG ; Guo-liang LI ; Xiao-lei YANG ; Rui-ju JIANG ; Hui YE ; Ting ZHAO ; Jing LI ; Xiao-chang LIU ; Yu-ting FU ; Hong-yuan SHI ; Hai-jun ZHOU ; Zhao-jun MO ; Yan-chun CHE ; Jing-si. YANG
Chinese Journal of Disease Control & Prevention 2019;23(4):402-406
Objective To evaluate the antibody titer distributions after primary vaccination by different sequential schedules of Sabin strain-based inactivated poliovirus vaccine(sIPV) and bivalent oral attenuated live poliomyelitis vaccine against types 1 and 3 (bOPV) in Drug Candy(DC) form or liquid dosage form. Methods Eligible infants of 2 months old selected in Liuzhou were assigned randomly in a ratio of 1:1:1:1 to 4 groups as following: sIPV+2bOPV(DC), sIPV+2bOPV(liquid), 2sIPV+bOPV(DC), 2sIPV+bOPV(liquid), and were vaccinated at 0, 28, 56 days. Polio neutralizing antibody titers against poliovirus types 1, 2 and 3 were tested prior to Dose 1 and at 28 days after Dose 3. Results The antibody titer distribution for type 1 was statistically different between sIPV+2bOPV(DC) and sIPV+2bOPV(liquid) (Z=-2.589, P=0.010) while no significant differences were detected between the two groups for type 2(Z=-0.331, P=0.741) and type 3(Z=-1.556, P=0.120). There were no significant differences between 2sIPV +bOPV(DC) and 2sIPV+bOPV(liquid) for the distributions(All P>0.05) (type 1: Z=-1.249, P=0.212; type 2: Z=-1.658, P=0.097; type 3: Z=-1.436, P=0.151). In the same dosage forms with different sequential schedules, the antibody titer distributions were significantly different between 2 doses sIPV and 1 dose sIPV groups(All P<0.05)(sIPV+2bOPV(liquid) vs 2sIPV+bOPV(liquid): type 1: Z=-2.766, P=0.006; type 2: Z=-9.137, P<0.001; type 3: Z=-5.529, P<0.001. sIPV+2bOPV(DC) vs 2sIPV+bOPV(DC): type 1: Z=-3.748, P<0.001; type 2: Z=-7.660, P<0.001; type 3: Z=-6.030, P<0.001). Conclusions Different dosage forms have similar immune effects, so appropriate dosage forms should be selected for vaccination according to the effectiveness, characteristics of subjects and the population density. In the case of sufficient supply of sIPV, 2 doses sIPV sequential program should be the first choice to complete the primary immunization.
9.Effect of Iodine Supplementation on Iodine Nutrition and Thyroid Function in Pregnant Women: A Cross-Sectional Study.
Rong SUN ; Ting Ting QIAN ; Lan Chun LIU ; Meng ZHAO ; Wen Jing CHE ; Ling ZHANG ; Wei Dong LI ; Qing Zhen JIA ; Jian Hui WANG ; Jin Shu LI ; Zhi Hui CHEN ; Bi Yun ZHANG ; Peng LIU
Biomedical and Environmental Sciences 2022;35(7):641-647
10.Relationship between Dining Place, Iodine Source, and Iodine Nutrition in School-Age Children: A Cross-Sectional Study in China.
Ting Ting QIAN ; Rong SUN ; Lan Chun LIU ; Wen Jing CHE ; Meng ZHAO ; Ling ZHANG ; Wei Dong LI ; Qing Zhen JIA ; Jian Hui WANG ; Jin Shu LI ; Zhi Hui CHEN ; Bi Yun ZHANG ; Peng LIU
Biomedical and Environmental Sciences 2023;36(1):10-23
OBJECTIVE:
This study assesses the impact of iodine-rich processed foods and dining places on the iodine nutritional status of children.
METHODS:
School-aged children (SAC) in seven provinces in China were selected by school-based multi-stage sampling. Urinary iodine, salt iodine, and thyroid volume (TVOL) were determined. Questionnaires were used to investigate dining places and iodine-rich processed foods. The water iodine was from the 2017 national survey. Multi-factor regression analysis was used to find correlations between variables.
RESULTS:
Children ate 78.7% of their meals at home, 15.1% at school canteens, and 6.1% at other places. The percentage of daily iodine intake from water, iodized salt, iodine-rich processed foods, and cooked food were 1.0%, 79.2%, 1.5%, and 18.4%, respectively. The salt iodine was correlated with the urinary iodine and TVOL, respectively (r = 0.999 and -0.997, P < 0.05). The iodine intake in processed foods was weakly correlated with the TVOL (r = 0.080, P < 0.01). Non-iodized salt used in processed foods or diets when eating out had less effect on children's iodine nutrition status.
CONCLUSION
Iodized salt remains the primary source of daily iodine intake of SAC, and processed food has less effect on iodine nutrition. Therefore, for children, iodized salt should be a compulsory supplement in their routine diet.
Humans
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Child
;
Nutritional Status
;
Cross-Sectional Studies
;
Iodine
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Sodium Chloride, Dietary/analysis*
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China
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Water