Objective To report the clinical and genetic characteristics of a dentatorubralpallidoluysian atrophy (DRPLA) pedigree with an onset of cognitive impairment.Methods Clinical data of this pedigree was collected.The numbers of CAG repeats in the exon 5 of atrophin-1 (ATN1) gene were analysed in the proband and the other 4 healthy family individuals.The polymerase chain reaction (PCR) products of the proband underwent cloning-sequencing using an original TA cloning kit.Results There were 5 patients in this family,4 with onset in adult and one in childhood.The proband had an onset manifestation of cognitive impairment,while the other 3 adult patients presented with ataxia.The two-year-old child in the pedigree had myoclonic epilepsy.The proband had 61 CAG repeats in the exon 5 of ATN1 gene.After TA cloning-sequencing of the proband ' s PCR products,there were 2 different numbers of CAG repeats,including 61 and 64.Conclusions The clinical manifestations of DRPLA can have obvious heterogeneity in one family.Some patients present with cognitive impairment.It is very important to test the numbers of CAG repeats of ATN1 gen for DRPLA diagnosis.Somatic mosaicism may be also observed in Chinese DRPLA patients.

Objective To explore the value of joint detection of serum cystatin C (Cys C) ,retinol‐binding protein(RBP) ,urea ni‐trogen(BUN) and creatinine(Cr) in early diagnosis of nephropathy .Methods A total of 230 cases of inpatients with nephropathy form April 2013 to June 2014 were collected and divided into diabetic nephropathy group (130 cases)and hypertensive nephropathy group(100 cases) .Other 200 healthy individuals were collected as healthy control group .The serum levels of Cys C ,RBP ,BUN and Cr were detected by using the Hitachi 7180 automatic biochemistry analyzer .Results Compared with the healthy control group ,the sertum levels of Cys C ,RBP ,BUN and Cr were significantly increased in the diabetic nephropathy group ,and the serum levels of Cys C and RBP were significantly increased in hypertensive nephropathy group ,there were statistically significant differences (P<0 .05);while no statistically significant differences in serum levels of BUN and Cr were found between the hypertensive nephropathy group and healthy control group(P>0 .05) .Positive rates(81 .9% ) of the four indicators in the two nephropathy groups were high‐er than those in the healthy control group ,and the positive rate of joint detection of the four indicators was higher than single detec‐tion in patients with nephropathy .Conclusion Serum RBP and Cys C are sensitive indicators for early renal damage ,and combined with BUN and Cr could increase sensitivity of early diagnosis of nephropathy ,which has significant clinical value .

Objective This study was aimed to investigate the expression of monocyte chemoattractant protein-1 (MCP-1) and vascular endothelial growth factor (VEGF) mRNA in rats with acute methanol poisoning. Methods Animal models of acute methanol poisoning in rats were duplicated using a plexiglas chamber exposed to a mixture of N2O/O2. Right atrium venous blood of rats were taken at each time point (2 h, 12 h, 24 h,3 d,1 w), and gas chromatography was used to determine the methanol concentration of the rat blood (n=5) . Then got brain tissue to extract total RNA and reverse transcription (n=3) . SYBRGreen real-time PCR was used to monitor the expression of MCP-1 and VEGF mRNA. Results (1) Results of methanol concentration determination:The blood methanol concentration of the low-dose group was significantly increased in comparison with that of the saline control group at 2 h and 12 h time points ( < 0.05) . In the high-dose group, the blood methanol concentration was increased significantly compared with the low-dose group as well as the saline group at 2 h, 12 h and 24 h time points ( < 0.05); (2) The expression of MCP-1 mRNA: The expression level of MCP-1 were significantly enhanced along with the time lapse after acute poisoning,and became most severely at 24 h. The expression levels of MCP-1 have significant differences in groups,of which high-dose group was higher than low-dose group at 2 h, 3 d and 1 w ( <0.05);(3) The expression of VEGF mRNA:The expression level of VEGF was significantly enhanced along with the time lapse after acute poisoning,and became most severely at 24 h. The expression levels of MCP-1 have significant differences in groups,of which high-dose group was higher than low-dose group at 2 h and 12 h ( <0.05) . Conclusion The expression levels of MCP-1 and VEGF mRNA were significantly enhanced, and the degree of poisoning was apparently related with the dose administered. MCP-1 and VEGF might play the important roles in the pathogenesis and progression of brain injured.

Objective To report the clinical,myopathological and genetic features of a patient with distal myopathy caused by caveolin-3 (CAV3) deficiency.Methods The patient was a 27-year-old female.She had an onset symptom of asymmetric lower extremities weakness.The proximal limb-girdle muscles were involved subsequently.Clinical data of this patient were collected.The leg muscle magnetic resonance imaging (MRI) and an open biopsy of left tibialis anterior muscle were performed.In addition to histological,enzyme histochemical staining and ultrastructural examination,immunohistochemical staining with antibody against CAV3 was done.CAV3 gene was analyzed in the patient and her parents.Results Tl-weighted enhanced skeletal muscle MRI of the lower limbs showed the abnormal signal in distal and proximal muscles.Muscle biopsy showed moderate dystrophic changes and immunostaining for CAV3 showed reduced plasmalemma in the muscle fibers.Gene analysis disclosed a heterozygous c.136G ＞ A (p.Ala46Thr)mutation in the CAV3 gene,and the patient's parents did not have this mutation.Conclusions We report a distal myopathy case caused by c.136G ＞ A (p.Ala46Thr) mutation in the CAV3 gene,who had an onset symptom of asymmetric lower extremities weakness.The proximal limb-girdal muscles were also involved.This would help clinical doctors to know more about this rare myopathy.

Objective To explore the influence of early system rehabilitation treatment on severe brain injury. Methods 120 inpatients with severe brain injury were divided into 4 groups according to the disease course. Group 1: <1 month; Group 2: 1~3 months, Group 3: 3~6 months; Group 4: 6~12 months. Fugl-Meyer Assessment (FMA) and Modified Barthel Index (MBI) were assessed before and 2 months after treatment. Results All groups were with better effects after treatment than before (P<0.05), early system rehabilitation had better effects especially for Group 1 (P<0.05). Conclusion Early rehabilitation treatment can facilitate the recovery of patients with severe brain injury

Objective To observe the effects of long-chain non-coding RNA XLOC009038 on the proliferation, apoptosis, migration and invasion of esophageal squamous cell carcinoma EC 109 and EC9706 cells and explore its mechanism. Methods XLOC009038 interfering plasmid was constructed and transfected into EC 109 and EC9706 cells to down-regulate the expression of XLOC009038 gene. MTT colorimetry and clonogenic assay were used to observe the changes of cell proliferation and cloning ability before and after gene down-regulation.Flow cytometry was used to detect apoptosis. Transwell was used to measure the changes of cell migration and invasion ability before and after transfection. Western blot was used to detect the expression of procaspase 3 protein in cells before and after transfection. Results The expression of XLOC009038 gene in the two cells was significantly lower than that in the control group (P < 0.001). After down-regulation of XLOC009038 gene expression, the cloning and proliferation ability of EC 109 and EC9706 cells decreased significantly (P< 0.05). Compared with the control group, the migration and invasion ability of EC 109 and EC9706 cells decreased significantly (P < 0.001).Flow cytometry showed that the apoptosis rate of EC 109 and EC9706 cells increased after down-regulation of XLOC009038 (P <0.001). The expression of procaspase 3 increased in the experimental group after interfering with XLOC009038 (P = 0.013; P < 0.001). Conclusions Over-expression of XLOC009038 might be closely related to occurrence and development of the esophageal cancer. Over-expression of XLOC009038 can enhance the proliferation, apoptosis, migration and invasion of esophageal cancer cells in vitro through the procaspase3 pathway.

Objective:To determine the value of lung function, cannula diameter and swallowing function in predicting the success of tube blocking in patients with severe neurological diseases so as to standardize the tracheal decannulation procedure.Methods:The tracheotomy tube blocking of 28 neurological disease patients was studied retrospectively. Before their tracheotomy tubes were blocked the patients′ lung function and swallowing function had been evaluated, and sputum volume and endotracheal tube diameter had been recorded.Results:The five most useful predictors of success in tracheotomy tube blocking were FVC, FVC%, FEV1 (L), FEV1 (L), FEV1 (L) and PEF(L/S). Their OR values were all greater than 1, indicating good predictive power. FEV1 and PEF showed the best predictive power, with OR values of 81.70 and 27.77, respectively. There was no significant difference between the two groups in terms of the other indicators. FEV1 predicted that the best truncation value for tracheotomy tube blocking success is 0.42L, achieving a sensitivity was 100% a specificity of 63.64%, and a correction index of 0.636.Conclusion:FEV1 values can be a useful predictor of successful tracheotomy tube blocking. Using it should improve the success rate of tube decannulation.

OBJECTIVETo investigate the role of MT-ND1 m.3635G>A mutation in the pathogenesis of Leber's hereditary optic neuropathy (LHON).

METHODSBiochemical characteristics including the activity of complex Ⅰ, ATP production and oxygen consumption rate among lymphoblastoid cell lines derived from 3 carriers, 3 affected matrilineal relatives of the families and 3 controls were compared.

RESULTSComparison of mitochondrial functions in lymphoblastoid cell lines of the carriers, patients and controls showed a 51.0% decrease in the activity of complex Ⅰ in patients compared with controls (P<0.05). The m.3635G>A mutation has resulted in decreased efficiency of ATP synthesis (P<0.05). Comparison of oxygen consumption rate showed that the basal OCR (P<0.05), ATP-linked OCR (P<0.05) and the maximum OCR (P<0.05) have all reduced to some extent compared with the controls.

CONCLUSIONThese results showed that m.3635G>A, as a LHON-associated mutation, can lead to mitochondrial dysfunction.

Adenosine Triphosphate ; genetics ; Asian Continental Ancestry Group ; genetics ; Female ; Humans ; Male ; Mitochondria ; genetics ; Mutation ; genetics ; NADH Dehydrogenase ; genetics ; Optic Atrophy, Hereditary, Leber ; genetics ; Pedigree

Objective To study the mutation rate of hereditary deafness genes found in the newborn babies and to explore the feasibility of routine screening of congenital deafness for the newborns.Method The cord blood were taken to tcst four common deafness genes using gene chip technology in newborn infants born in our Hospital from May 2015 to May 2017 and screening of hearing was performed 48 hours after birth.x2 test was used to analyze the results of gene screening and the hearing screening data obtained after 42 days.Result A total of 2 615 newborns were enrolled in the study and 2 455 cases passed the hearing screening test 48 hours after birth (the passing rate was 93.9％).143 cases passed the hearing screening after 42 days with the passing rate of 99.3％.The mutation of deafness gene from the newborn's cord blood was detected in 107 cases with the rate of 4.1％.96 of 107 infants with deafness gene mutations passed the hearing screening (89.7％).While in infants without this mutation,2 502 cases passed the hearing screening (99.8％,2 502/2 508).The rate of hearing defects in children with deafness gene mutation was significantly higher than those without this gene mutation,and the difference was statistically significant (x2 =160.199,P ＜0.001).Of the 107 cases,the most common mutation was GJB2 (49 cases,45.8％),followed by SLC26A4 (37 cases,34.6％) and mtDNA 12SrRNA (13 cases,12.1％),while the GJB3 was the least (8 cases,7.5％).6 cases were diagnosed the neonate hearing loss at 3 months in 17 newborns who failed to pass repeat screening test 42 days after birth.Among them,hearing loss was caused by the mutation in 5 cases.Conclusion The main mutated genes in children with deafness were GJB2 and SLC26A4 in this study.The combination of hearing screening of newborns and gene test is clinically feasible.The deafness genes in the normal hearing carriers can be detected in time.It is of great advantage for early intervention and treament of the infants early.

ObjectiveTo investigate the cognition of e-cigarette compositions and hazards and its influencing factors among secondary school personnel （junior， senior and vocational high school） in Shanghai， so as to provide ideas for improving the cognition level of e-cigarettes among the school personnel and tobacco control efforts on campus in the future. MethodsA multi-stage stratified cluster random sampling method was used to conduct an anonymous online questionnaire survey among 1 767 secondary school personnel in Shanghai. ResultsThe proportion of school staff who had used e-cigarettes was 3.79%. The participants who were not sure whether the e-cigarette smoke was “mainly water vapor （incorrect）” and whether the e-cigarette smoke “contained nicotine （correct）” and “contained formaldehyde （correct）” accounted for 62.71%， 54.44% and 61.91%， respectively. Among them， 68.48%， 55.46% and 50.37%， respectively， agreed that e-cigarettes would be “addictive”， “harmful” and “that second-hand smoke was harmful”. Binary logistic regression analysis showed the following risk factors for the low level of school personnel’s awareness of e-cigarette compositions： age ≥40 years （OR=1.65， 95%CI： 1.32‒2.06）， working in junior high school （OR=1.37， 95%CI： 1.09‒1.73）， educational attainment level as junior college or below （OR=1.67， 95%CI： 1.02‒2.74）， and not having participated in tobacco control education activities （OR=1.37， 95%CI： 1.08‒1.73）. Meanwhile， working in junior （OR=1.43， 95%CI： 1.12‒1.83） or senior （OR=1.44， 95%CI： 1.08‒1.92） high school， educational attainment level as junior college or below（OR=2.10， 95%CI： 1.24‒3.56）， having used e-cigarettes （OR=2.98， 95%CI： 1.63‒5.42）， not having participated in tobacco control education activities （OR=1.49， 95%CI： 1.16‒1.92） and low level of awareness of e-cigarette compositions （OR=4.24， 95%CI： 3.44‒5.23） were risk factors for the low level of school personnel’s awareness of e-cigarette hazards. ConclusionsThe level of e-cigarette awareness among school personnel in Shanghai is low， especially those who are older， had low educational attainment level and had used e-cigarettes. In the future， tobacco control education for school personnel should be strengthened to improve their cognition and ability of tobacco control on campus.