Objective To use the matrix assisted laser desorption ionization time of flight mass spectrometry (MALDI-TOF-MS) technique for detecting the mutation gene of neonatal non-syndromic hereditary hearing impairment gene in Guangxi and to investigate its effectiveness and feasibility in clinical application.Methods A total of 7 100 newborns were performed the hearing preliminary screening and secondary screening by adopting AABR.The genomic DNA was extracted by the heel blood spot.Twenty mutation characteristics of 4 deaf predisposing genes were detected by MALDI-TOF-MS.Results The pass rate of hearing screening in 7 100 newborns was 97.11％ (6 895/7 100),the positive rate of neonatal gene mutation was 3.54％ (251/7 100),in which the GJB2 gene mutation was in 131 cases,the carrying rate was 1.84％,235delC heterozygous mutation was in 108 cases.SLC26A4 gene mutation was in 93 cases,which dominated by 1229C＞T heterozygous mutation and IVS7-2A＞G heterozygous mutation,mtDNA12SRNA gene mutation was in 16 cases and GJB3 gene mutation was in 11 cases.Conclusion Adopting the MALDI-TOF-MS screening technique can increase the detection rate of hot point mutation in common deaf related genes and discover neonatal genetic NSHI from molecular level and provides the corresponding geneticconsulting guidance for early finding and predicting deaf occurrence,and formulating the interventional measures.

Adolescent ; Adult ; Audiometry, Pure-Tone ; methods ; Auditory Cortex ; physiopathology ; Case-Control Studies ; Female ; Hearing Loss, Sensorineural ; diagnosis ; physiopathology ; Humans ; Magnetoencephalography ; Male ; Young Adult

Objective To observe the therapeutic effect ofbotulinum toxin type A (BTX-A) on spasticity of the upper extremity after stroke. Methods Fifty-four patients with upper extremity spasticity after stroke were randomly divided into treatment group and control group. The patients in treatment group were treated with BTX-A and rehabilitation training, while those in control group only with rehabilitation training. The efficacy was assessed with Modified Ashwonh Scale, Fugi-Meyer Assessment and Bartbel index before and 2, 4 and 12 weeks after treatment. Results The Ashworth scale score in treatment group was reduced significantly as compared with that in control group after 2- and 4-week treatment (P<0.01). And there was significant difference in FugI-Meyer Assessment and Barthel index between treatment group and control group after 4- and 12-week treatment (P<0.01). Conclusion The local injection of BTX-A for the muscle spasticity after stroke is effective and safe, and its combination with rehabilitation training can improve rapidly Fugl-Meyer scores and activities of daily living of patients.

Objective To study the dynamic changes of cytokines including tumor necrosis factor-alpha (TNF-?),interleukin-6 (IL-6),IL-8 in serum and cerebrospinal fluid (CSF) of asphyxia neonates,and to analyze the relationship between cytokines levels and severity of brain damage and neurological outcome. Methods The concentrations of TNF-?,IL-6,IL-8 in serum and CSF were measured by radioimmunoassay in 63 asphyxia neonates. Neurological development was evaluated at 12 months by children′s developmental scale of china.Results The serum concentrations of TNF-?, IL-6,IL-8 were significantly higher in asphyxiated neonates than those in the controls,and they were correlated with the degree of encephalopathy. The level of serum TNF-? was hig-(hest) at the first day and IL-6 was highest at the third day. There was no marked dynamic changes within 5 days in serum IL-8 level. The concentrations of TNF-?,IL-8 in CSF were higher at the first and the third day.The dynamic changes of IL-6 in CSF were similar in serum and they were positively correlated. The serum concentration of IL-6 in severe brain injury group was much higher than those of normal and mild group.The CSF concentration of IL-6 in severe brain injury group was much higher than that of normal group. The CSF concentration of IL-8 in severe brain injury group was much higher than those of the normal and mild group. Conclusions The concentrations of TNF-?,IL-6 and IL-8 are increased both in serum and CSF in asphyxiated neonates which are correlated with severity of hypoxic-ischemic encephalopathy. Cytokine-mediated inflammatory reactions may participate in the mechanism of hypoxic-ischemic brain injury after asphyxiaion.The concentration of IL-6 in serum and IL-6, IL-8 in CSF are correlated with the neurological outcome.

OBJECTIVETo investigate the relationship of gut flora and gut-derived endotoxin with minimal hepatic encephalopathy (MHE).

METHODSPatients with hepatitis B virus-related liver cirrhosis (HBV-LC) were screened for MHE using the number connect test-A (NCT-A) and digital symbol test (DST) and divided into the following groups: HBV-LC with (+) MHE (n = 26) and HBV-liver cirrhosis without (-) MHE (n = 25); in addition, one healthy immediate family member of each patient in the HBV-LC + MHE group was enrolled as a control. Each participant provided fecal and blood samples. PCR amplification and 454 pyrosequencing were used to detect bacterial 16S rRNA in feces. Turbidimetric Limulus amebocyte lysate assay was used to detect level of endotoxin in serum. The significance of inter-group differences was assessed by one-way ANOVA or Student's t-test.

RESULTSThe three groups showed different distributions of gut flora. The differences in the microbial communities' members and distributions were related to disease or health status, but not to the patient's genetic makeup or diet. In particular, the HBV-LC + MHE patients showed significantly lower amounts of different bacterial species and abundance of these species than the other two (non-MHE) groups (P less than 0.05). The healthy control family members had a richer diversity of gut flora than their counterparts with HBV-LC + MHE (P less than 0.05). The HBV-LV + MHE patients also had higher serum levels of endotoxin.

CONCLUSIONDevelopment of minimal hepatic encephalopathy in patients with HBV-LC may be related to a gut flora disorder or higher levels of endotoxin in serum.

OBJECTIVETo evaluate the veracity of the C1 lateral mass screw insertion in the atlantoaxial fixation using plate and screw method without A-P fluoroscopic guiding.

METHODSIn the atlantoaxial fixation, without A-P fluoroscopic guiding, we probe lateral mass edge and identify the entrance point of C1 lateral mass screw indirectly. 159 patients treated with atlantoaxial fixation using plate and screw method were studied. Postoperative CT was used for analysis, and the position of the lateral mass screws in atlas was identified by coronary and axial CT scan. Three areas were delimited in and around the lateral mass of atlas in the axial CT scan, so as to analyze the location of screws: area A (inside the joint face), area B (outside the joint face but still in lateral mass), and area C (outside the lateral mass).

RESULTSAmong the 318 screws, 308 (96.9%) were located in area A, 5 in area B (1.6%), and 5 in area C (1.6%). All cases got atlantoaxial union at 4 months after operation.

CONCLUSIONProbing lateral mass edge and identifying the lateral mass indirectly is reliable for identifying the path of screw in atlas.

Adolescent ; Adult ; Aged ; Atlanto-Axial Joint ; surgery ; Bone Screws ; Cervical Atlas ; surgery ; Child ; Female ; Follow-Up Studies ; Fracture Fixation, Internal ; methods ; Humans ; Joint Instability ; surgery ; Male ; Middle Aged ; Retrospective Studies ; Spinal Fusion ; methods

BACKGROUND: Vertebroplasty (PVP) and kyphoplasty (PKP) are important methods for the treatment of osteoporotic vertebral compression fractures in the elderly. Although bone cement has certain liquidity and vertebral fractures are often in different situations, bone cement leakage rate is still high. OBJECTIVE: Based on the theoretical discussion and clinical analysis, to study the theoretical causes of bone cement leakage and effective prevention methods. METHODS: A total of 162 cases (186 vertebrae) were treated with three methods of vertebroplasty. Group A: 64 cases with 78 vertebrae were treated with conventional cemented vertebroplasty; Group B: 57 cases with 65 vertebrae were treated with cemented vertebroplasty using cement pump; Group C: 41 cases with 43 vertebrae were treated with balloon kyphoplasty. The leakage of bone cement was observed in three groups. RESULTS AND CONCLUSION: Of the 186 vertebrae, postoperative bone cement leakage occurred in 25 vertebrae, with the leakage rate of 13% (25/186). Group A had bone cement leakage in 11 vertebrae, and the leakage rate was 14% (11/78). Group B had bone cement leakage in 8 vertebrae, and the leakage rate was 12% (8/65). Group C had bone cement leakage in 6 vertebrae, and the leakage rate was 14% (6/43). There was no significant difference among the three groups in the leakage rate of bone cement (P > 0.05). That is to say, the causes of bone cement leakage are not completely controllable, and the leakage position has some randomness. Strict and careful imaging monitoring is an intuitive method to prevent bone cement leakage.

Adult ; Antiviral Agents ; administration & dosage ; therapeutic use ; Drug Therapy, Combination ; Female ; Hepatitis B e Antigens ; Hepatitis B, Chronic ; drug therapy ; immunology ; Humans ; Interferon-alpha ; administration & dosage ; therapeutic use ; Male ; Nucleotides ; administration & dosage ; therapeutic use ; Polyethylene Glycols ; administration & dosage ; therapeutic use ; Recombinant Proteins ; administration & dosage ; therapeutic use ; Treatment Outcome ; Young Adult

BACKGROUNDAcupuncture has been shown to be effective in pain relief and anesthesia, and has been suggested for treating various kinds of functional disabilities in traditional Chinese medicine, including knee osteoarthritis (OA). The study aimed to investigate the immediate effects of acupuncture on gait patterns in patients with knee OA.

METHODSTwenty patients with bilateral medial knee OA were assigned evenly and randomly to a sham group and an experimental group. During the experiment, the experimental group underwent a 30-minute formula electro-acupuncture treatment while the sham group received a sham treatment. Before and after treatment, each subject was evaluated for their knee pain using visual analog scales (VAS) and then their performance of level walking using gait analysis. For all the obtained variables, the independent t-test was used for between-group comparisons, while paired t-test was used to investigate the before and after changes.

RESULTSAll the measured data before acupuncture treatment between the groups were not significantly different. The VAS scores were decreased significantly after acupuncture in both groups, and the mean change of the VAS values of the experiment group was 2 times greater than that of the sham group. After formula acupuncture stimulation, while no significant changes were found in all the gait variables in the sham group, the experimental group had significant increases in the gait speed, step length, as well as in several components of the joint angles and moments.

CONCLUSIONSThe results of the study suggest that significantly improved gait performance in the experimental group may be associated with pain relief after treatment, but the relatively small decrease of pain in the sham group was not enough to induce significant improvements in gait patterns. Gait analysis combined with the VAS can be useful for the evaluation of the effect of acupuncture treatment for patients with neuromusculoskeletal diseases and movement disorder.

Acupuncture Therapy ; Aged ; Biomechanical Phenomena ; Female ; Gait ; physiology ; Humans ; Male ; Middle Aged ; Models, Biological ; Osteoarthritis, Knee ; therapy ; Treatment Outcome

BACKGROUNDSeroma formation is one of the most common complications after breast cancer surgery. Various risk factors have been evaluated for their associations with the development of seromas in Western populations. However, similar data are not available in Chinese series. Therefore, we sought to investigate the potential risk factors for Chinese breast cancer patients.

METHODSA prospective study of female breast cancer patients undergoing surgery was carried out in Cancer Hospital of Fudan University, Shanghai, China. Univariate analyses were performed by chi-square test or Student's t test or Mann-Whitney test and multivariate analyses by stepwise Logistic regression. The logistic model included age (years), total serum protein concentration (g/L), drainage volume on postoperative day 3 (POD 3; ml) and time to daily drainage volume not more than 30 ml (TTV30; days).

RESULTSA total of 158 patients with breast cancer were studied. The mean age at diagnosis was (52.14 ± 10.77) years (range 25 - 92). During the follow-up period, 24 (15.2%) patients developed seromas. Calculated as continuous variables in the stepwise Logistic regression, age (OR = 1.090, 95%CI 1.028 - 1.155, P = 0.004), total serum protein concentration (OR = 0.886, 95%CI 0.791 - 0.992, P = 0.036), drainage volume on POD3 (OR = 1.013, 95%CI 1.002 - 1.023, P = 0.017) and TTV30 (OR = 1.273, 95%CI 1.039 - 1.561, P = 0.020) were independent risk factors for seroma formation. Additionally, significant difference in daily drainage volume was substantiated in the analysis by seroma formation (P = 0.034) rather than by type of surgery (P = 0.713).

CONCLUSIONSAlthough the pathogenesis of seroma remains controversial, such risk factors as age, nutritional status, drainage volume on POD3 and TTV30 should be considered for prediction and prevention of seroma formation in Chinese breast cancer patients.

Adult ; Aged ; Aged, 80 and over ; Asian Continental Ancestry Group ; Breast Neoplasms ; surgery ; Female ; Humans ; Middle Aged ; Postoperative Complications ; Prospective Studies ; Risk Factors ; Seroma ; etiology