To analyze the clinical, molecular genetic and biochemical characteristics of a family diagnosed with creatine deficiency syndrome (CDS) due to SLC6A8 gene mutation diagnosed in Department of Pediatrics, the First Affiliated Hospital of Xinxiang Medical University in September 2018.The boy was referred at the age of 13 for intermittent vomiting and symptoms were relieved after symptomatic treatment, 7 months later, the patient was diagnosed again.He ate less and constipated as an infant, and had intermittent vomiting and severe constipation from 12 years old.He could walk at the age of 1 year and 6 months, could speak his first word at 2 years old, and only spoke simple sentences at the diagnosis.He rarely communicated with his parents.His brother has severe intellectual deficiency and seizures.His mother has cognitive impairment and had repeated stillbirths and miscarriages.When visiting the doctor, his weight was 22 kg (< P3), height was 131 cm (< P3), and head circumference was 52 cm.Besides, he had severe mental retardation and sluggish expression, poor communication, broad forehead, musculoskeletal atrophy and arched foots.His brain magnetic resonance imaging showed mild enlargement of the lateral ventricles.Magnetic resonance spectroscopy showed normal signals in the bilateral hippocampuses.The boy′s exon sequencing related to intellectual deficiency revealed the hemizygous mutation of SLC6A8 gene c. 626(exon3)-c.627(exon3)delCT.His mother and brother were carriers of the variant gene, but his father and grandmother had no such mutation.The urinary creatine to creatinine ratio was elevated but guanidinoacetate was normal, it was further confirmed that CDS can be caused by the novel mutation c. 626(exon3)-c.627(exon3) delCT in SLC6A8.In clinical practice, boy with mental retardation of unknown origin and often have gastrointestinal symptoms, especially when feeding difficulties and growth retardation occur in infancy, the early diagnosis of CDS can be achieved by examination of urinary creatine to creatinine ratio and gene detection.

A wearable wireless health monitoring system for drug addicts in compulsory rehabilitation centers was proposed. The system can continuously monitor multiple physiological parameters of drug addicts in real time, and issue early warning information when abnormal physiological parameters occur, so as to play the role of timely medical practice. In addition, this study proposes a convolutional neural network (CNN)model, which can evaluate the health status of drug addicts based on multiple physiological parameters. Experiments show that the model can be applied to the task of body state recognition in the open physiological parameter data set, and the recognition accuracy can reach up to 100% in a single physiological parameter data set; when the whole physiological data set is used, the recognition accuracy can reach 99.1%. The recognition accuracy exceeds the performance of the traditional pattern recognition method on this task, which verifies the superiority of the model.
Algorithms ; Electrocardiography ; Monitoring, Physiologic ; Neural Networks, Computer ; Wearable Electronic Devices

Objective To explore the change of of plasma TSP-1 level in patients with coronary atherosclerosis and its relationship with the degree of coronary artery stenosis and related plasma cytokines.Methods A total of 79 patients with chest pain were divided into low score group (n =27),medium score group (n =26),and high score group (n =26) according to Gensini score.Another 27 normal controls were included as control group.The levels of plasma TSP-1,hs-CRP,MMP-9 and TGF-β1 were detected by enzyme-linked immunoassay,and the relationship between TSP-1 and Gensini score,hs-CRP,MMP-9 and TGF-β1was analyzed.Results There were significant differences in level of plasma TSP-1 between four groups (P ＜ 0.05).The level of TSP-1 in plasma was correlated with hs-CRP (r =0.4979,P ＜ 0.001),MMP-9 (r =0.3940,P ＜ 0.001) and TGF-β1 (r =0.4889,P ＜ 0.001).The multiple stepwise linear regression analysis showed that there was a correlation between the degree of coronary artery stenosis and the plasma TSP-1 level.Conclusion Plasma TSP-1 level can be used as a biomarker for coronary stenosis.

Objective To explore the change of of plasma TSP-1 level in patients with coronary atherosclerosis and its relationship with the degree of coronary artery stenosis and related plasma cytokines.Methods A total of 79 patients with chest pain were divided into low score group (n =27),medium score group (n =26),and high score group (n =26) according to Gensini score.Another 27 normal controls were included as control group.The levels of plasma TSP-1,hs-CRP,MMP-9 and TGF-β1 were detected by enzyme-linked immunoassay,and the relationship between TSP-1 and Gensini score,hs-CRP,MMP-9 and TGF-β1was analyzed.Results There were significant differences in level of plasma TSP-1 between four groups (P ＜ 0.05).The level of TSP-1 in plasma was correlated with hs-CRP (r =0.4979,P ＜ 0.001),MMP-9 (r =0.3940,P ＜ 0.001) and TGF-β1 (r =0.4889,P ＜ 0.001).The multiple stepwise linear regression analysis showed that there was a correlation between the degree of coronary artery stenosis and the plasma TSP-1 level.Conclusion Plasma TSP-1 level can be used as a biomarker for coronary stenosis.

Objective To investigate the content and changes of fluoride in corn and pepper, to evaluate the effect of prevention and control measures, and to provide a basis for adjusting the prevention and control strategy. Methods In 2013, according to the different directions of east, west, south, north and center, 5 townships were selected from each coal-burning-borne endemic fluorosis areas in all 23 counties (cities, districts), and 3 villages was randomly selected from each township. Household samples of corn and dried pepper in 10 households were collected to detect fluorine content. The results of 14 counties were compared with the 2007 survey data. Results A total of 884 and 3379 samples of corn and pepper were collected, and the median fluorine content was 1.26 and 9.15 mg/kg, the range was 0.50~254.59 mg/kg and 0.50~3701.88 mg/kg, respectively. Compared with the survey data of 2007, the median fluoride content of corn of 14 counties decreased by nearly 50%, and the median amount of pepper was reduced by more than 80%. The differences were statistically significant (mg/kg:corn 1.36 vs 2.63, dried pepper 9.70 vs 55.31, Z = 3.28, 9.13, P<0.05). Conclusion The fluoride content of corn and pepper in Guizhou Province is significantly lower, but it is still relatively high in some coal-burning-borne fluorosis counties (cities, districts).

Objective To analyze the quality control measures on urinary fluoride testing in the implementation,and to provide experience in quality control for testing activities.Method According to the Determination of Fluoride in Urine-Ion Selective Electrode Method (WS/T 89-1996),focusing on ways to complete testing all the samples in a short time,implementing internal quality control measures in the testing before,during and after the implementation by different ways as blank experiment,standard substance detection,personnel parallel experiment,paralleled detection,instrument comparison and sample test repeat,were carried out.Results The test results of blank experiment were lower than the lowest detection limit;the test results of standard material were within the scope of the standard reference,there was no significant difference between the mean value and the reference value (t =0.01,0.00,0.02,all P ＞ 0.05),|Z| values were all less than 1;the results of personnel parallel experiment,paralleled detection,instrument comparison test results and sample test repeat were not significantly different statistically (all P ＞ 0.05);the results of instrument comparison and sample test repeat were not significantly different statistically (t =0.129,0.034,all P ＞ 0.05).A total of 9 123 urine samples were tested,the geometric mean of urinery fluoride was 0.58 mg/L.Conclusion Different quality control measures should be implemented through all the testing,control personnel errors,instruments,and reagents,etc,to ensure the quality of the entire test results.

Objectives To observe the effect ofGuizhi-Fuling capsule on the expression of AngⅡand eNOS.Methods 72 male Sprague-Dawley(SD) rats, aged three months, were randomly divided into three groups: a sham-operated group(n=24),a model group (n=24) and a treatment group (n=24). Renal tubulointerstitial fibrosis model was established via unilateral ureteral obstruction(UUO). Rats in the treatment group were treated withGuizhi-Fulingcapsule (125mg/kg),and the same volume of normal saline were given to the rats in the sham -operated group and the model group at the same time. Rats were put to death at day 7, 14, 21 Immunohisto-chemistry staining was performed to investigate both the expression of AngⅡ, eNOS in TIF. Results 1 Renal interstitium injury was seen in the model group and the treatment group rats at day 7. The degree of renal interstitium fibrosis in rats from the treatment group was lighter than that of the model group at day 7, 14, 21 (P< 0.01).2 At day 7,14 and 21, the expression of AngⅡin rats from the model group and the treatment group were higher than that of the sham-operated group (P<0.01), but those of the treatment group was lower than those of the model group (P< 0.01). The expression of AngⅡ in rats from the model and the treatment groups were increasing,the highest in the 21th day (P<0.01).3 At day 7, 14 and 21, the expression of eNOS in rats from the model group and the treatment group were lower than that of the sham-operated group  (P<0.01).ConclusionsGuizhi-Fuling capsule can alleviate the lesion of renal tissue in obstructive kidney and delay the development of TIF.

Objective To provide a basis for specific intervention by dynamic observation of the households'related health life behavior and the children fluorosis change trend caused by the coal-burning-borne endemic fluorosis in Pu'an County.Methods Three villages were chosen using simple random sampling method in 2011-2013 for continuous monitoring.Every monitoring year in each monitoring village,according to the principle of every household survey,10 households were selected to survey related health life behavior;,and in the monitoring village all the children aged 8-12 years old were selected for Diagnosis of Dental Fluorosis (WS/T 208-2001),and in each age group,10 urine samples (half male half female) were collected,the fluoride content was determined by the ion selective electrode method (WS/T 89-1996).Results In 2011-2013,the households stoves qualified rate,stoves correct usage rate and the corn or chili correct drying rate were all 100.00％ (30/30).The dental fluorosis incidences of 8-12 years old children were 63.60％ (332/522),25.44％ (173/680) and 14.29％ (80/560),respectively,decreased year by year (x2 =324.67,P ＜ 0.05).In 2011-2013,children urinary fluoride levels were 0.83,0.84 and 0.68 mg/L,respectively.The difference between years was statistically significant (x2 =26.89,P ＜ 0.05),and the level in 2013 was significantly lower than those of 2011 and 2012 (all P ＜ 0.01).Conclusion In 2011-2013,the residents in Pu'an have good health life behavior,and the condition of children's dental fluorosis is decreased year by year.

Objective To investigate the characteristics of central cord syndrome without fracture or dislocation and assess the effect of surgical management.Methods Twenty-one cases of central cord syndrome without fracture or dislocation were diagnosed with X-ray radiography,CT and MRI and treated surgically.Spinal cord dysfunction and its recovery rate were evaluated using American Spinal Injury Association (ASIA) system.Radiological and clinical evaluation was performed for all cases.Pre-and postoperative ASIA scale and score were statistically analyzed.Results All cases sustained cervical spinal cord compression resulting from cervical disc herniation in 18 cases,of which five were accompanied by ligamentum flavum hypertrophy and reductus,developmental cervical spinal canal stenosis in two cases and posterior longitudinal ligament ossification in one case.Neurological dysfunction involved in the upper extremity in 15 cases and upper and lower extremity in six cases.Mean period of follow-up was 13.5months.ASIA scale was improved from C (n =9) and D (n =12) before operation to C (n =1),D (n =6) and E (n =14) in the last follow-up.ASIA score of motor and sensory dysfunction revealed a (84.3 ±12.5)％ and (62.7 ± 14.6)％ improvements,with significant difference as compared with the preoperative one (P ＜ 0.05).Conclusions Cervical disc herniation is the major factor of spinal cord compression in central cord syndrome without fracture and dislocation.Neurological dysfunction occurs mostly in the upper extremity.Surgery is an effective method to release spinal cord compression and restore neurological function.

BACKGROUND:Bone marrow stem cells are defined by their multi-potential ability, and can be differentiated into intrinsic cells in the kidney.
OBJECTIVE:To study the effects of mobilizing autologous bone marrow stem cells by granulocyte colony-stimulating factor plus stem cellfactor on cellapoptosis and proliferation of rats with renal ischemia-reperfusion injury.
METHODS:Total y 160 male Sprague-Dawley rats were randomly divided into four groups:control group, model group, cytokine treatment group, cytokine control group. Rat models of unilateral renal ischemia-reperfusion injury were established in the model and cytokine treatment groups. Rats in the cytokine treatment group and cytokine control group received subcutaneous injection of granulocyte colony-stimulating factor (50μg/kg) and stem cellfactor (200μg/kg), once a day, for 5 continuous days. Rats in the model and control groups had no treatment. Apoptotic cells were detected by terminal deoxynucleotidyl transferase-mediated dUTP-biotin nick end labeling method, and the expression of CD34-positive cells, Caspase-3, Bcl-2, proliferating cellnuclear antigen in the kidney were measured using immunohistochemistry staining.
RESULTS AND CONCLUSION:The number of CD34-positive cells in renal tissue of the cytokine treatment group was significantly higher than that of the control group and model group (P<0.05). The apoptotic index and expression of Capase-3 in the model group and cytokine treatment group were higher than those in the control group and cytokine control group (P<0.05). The apoptotic index and expression of Capase-3 in the cytokine treatment group were lower than that in the model group (P<0.05). The expression of Bcl-2 in the model group and cytokine treatment group was higher than that in the control group and cytokine control group (P<0.05). The expression of Bcl-2 in the cytokine treatment group was higher than that in the model group (P<0.05);however, as time went on, Bcl-2 expression was obviously decreased. Proliferating cellnuclear antigen expressed both in the model group and in the cytokine treatment group. Additional y, the proliferative index reached peak at 24 days in the model group, and then decreased gradual y;while in the cytokine treatment group, it reached the peak at 10 days, maintained a high level until the 17th day, and then decreased gradual y. Mobilization of autologous bone marrow stem cells by combination of granulocyte colony-stimulating factor and stem cellfactor can increase proliferation and decrease apoptosis of renal tubular epithelial cells after renal ischemia-reperfusion injury, and thus, promote the recovery from renal tubular injury.