Glutaric aciduria type Ⅰ is an autosomal recessive disorder resulting from glutaryl-CoA dehydrogenase(GCDH) deflciency.Untreated patients commonly present with severe striatal degeneration and extrapyramidal sequelae during encephalopathic crises.GCDH deficiency leads to accumulation of glutaric acid and 3-hydroxyglutaric acid in tissues and body fluids (especially in brain),which are neurotoxic.There is no correlation between residual enzyme activity caused by mutations in GCDH and phenotype.The pathogenesis of glutaric aciduria type Ⅰ is complicated.Previous studies have demonstrated that glutaric and 3-hydroxyglutaric acids are synthesized in central nervous system and trapped because of limiting transport across the blood-brain barrier.The studies on metabolite-mediated neurotoxicity mainly focus on excitotoxicity,impairment of energy metabolism and oxidative stress.In addition,activation of astrocyte,vascular derangements,inflammatory processes may be a synergism of neurotoxicity.

Objective To investigate the influence of age on the perioperative characteristics of posterior lumbar interbody fusion (PLIF). Methods 129 patients (25~91 years old) with spondylolisthesis, lumbar stenosis and/or disc degeneration/herniation with instability,or unsuccessful results after a failed previous PLIF. They were divided into control group (<65 years old, n=85) and experimental group (<65 years old, n=44). The American Society of Anesthesiologists (ASA) score, the number of fusion segments, estimated blood loss and hospital stay were observed. Results The ASA score was higher in the experimental group than in the control group (P<0.001). There was no significant difference in complications, estimated blood loss and operative time (P>0.05) between 2 groups. Conclusion Age can not increase the rate of perioperative complications of PLIF, and the advanced age should not be surgical contraindication.

Objective To investigate the cause, diagno sis and treatment of acute acalculous cholecystitis(AAC).Method 32 cases of AAC which were treated from 1990 to 2000 were analyzed retrosp ective ly.Results 25 cases were diagnosed by B-ultrasonograph ,th e positive rate of diagnosis was 88.0%(22/25),7 cases were diagnosed by CT,6 c ases were definitely diagnosed(85.7%).All of them underwent operations, cholec ystectomy was performed in 29 patients,cholecystostomy in 2, subtotal cholecyste ctomy in 1 .Of them 31 were cured and one died.Conclusions The cause of AAC is very complication, the preoperative diagnosis is difficult, it is easy to be misdiagnosed. Surgeon should pay more attention to AAC. B-ultra sonograph is the first choice of the diagnosis of AAC,CT can give a hand to diag nosis. The early operation resection is the most effective method.

AIM: To further investigate the immunologic mechanism of myasthenia gravis(MG). METHODS: Acetylcholine receptor antibodies(AchRab) and presynaptic membrane antibodies (PsMab) was determined by ELISA in 285 cases of MG patients. Tumor necrosis factor- alpha(TNF-?) and RBC-C3b receptor rosette rate(RBC-C3bRR)and RBC-IC rosette rate (RBC-ICR)was determined in 202 patients with MG. Furthermore, the peripheral blood lymphocyte subsets was examined in 104 cases MG patients. RESULTS: The positive rates of the AchRab and PsMab in MG were very significantly higher than that of control.The positive rate of PsMab in patients with negative AchRab was very significantly higher than that of patients with the positive AchRab.In 202 MG patients, the TNF-? was significantly higher, but the RBC-C3bRR was significantly lower than those of control, while the RBC-ICR has no significant change. CONCLUSION: MG is an autoimmune disease with damaged postsynaptic membrane by the AchRab, and some patients with both the AchRab and PsMab could manifest disfunction in the postsynaptic and presynaptic membrane. While the patients who just has the PsMab maybe damaged only in the presynaptic membrane. Other body fluid immune or/and cell immune mechanism may be involved in MG patients without AchRab and PsMab. [

The status of current clinical probation teaching is not satisfactory,so it is essential to establish and perfect clinical teaching mode based on laws and guide students to properly handle the relationship among the internship,employment and preparation for the examination for postgraduates,reform the clinical teaching system,strengthen the training and education of medical ethics and quality,integrate the clinical teaching resources and make full use of clinical cases,as well as strengthen the internship management so as to ensure the quality of teaching of clinical internship.

Objective To investigate the therapeutic outcomes of unilateral adrenalectomy for Cushing syndrome in patients with adrenocorticotropic hormone (ACTH) independent bilateral macronodular adrenal hyperplasia.Methods 22 patients diagnosed with Cushing syndrome caused by ACTH independent bilateral macronodular adrenal hyperplasia from January 2005 to December 2015 were retrospectively concluded.There are 17 male patients and 5 female patients with the median age of 46.5 years.All patients were presented with Cushing syndrome such as moon face, buffalo hump and other typical symptoms of Cushing syndrome.The laboratory tests showed disappearance of cortisol rhythm, elevated 24-hour urinary free cortisol, suppressed or normal ACTH and unsuppressed low dose dexamethasone suppressing test.CT scan showed bilateral macronodular adrenal hyperplasia in all patients.Results All the patients received unilateral adrenalectomy.Pathological results showed adrenal cortex nodular hyperplasia.16 patients had reexamination in the endocrine department.The median follow-up time was 26 (17-118)months for these 16 patients.In the follow-up between 3 to 9 months after surgery, laboratory test showed serum and urinary cortisol level returned to normal range and Cushing syndrome also disappeared in these 16 patients.CT scan showed no recurrence.And no adrenal insufficiency occurred.One patient had recurrence one year after surgery and two patients turned better after surgery but had recurrence at 3 years and 10 years after surgery.Two patients received contralateral adrenalectomy and cortisol hormone replacement therapy after surgery.Another patient with recurrence refused second surgery.No recurrence was observed in other patients.Four patients were followed up by telephone, and all recovered well after surgery.18 patients had hypertension before surgery and their blood pressure significantly decreased after surgery.Among them 13 cases blood pressure returned to normal range.5 patients had elevated blood glucose before surgery, and 3 patients' blood glucose returned to normal range.Conclusions Unilateral adrenalectomy for Cushing syndrome in patients with ACTH independent bilateral macronodular adrenal hyperplasia is safe and effective.

Objective To investigate the incidence and risk factors of end-stage liver disease (ESLD) in human immunodeficiency virus (HIV) and hepatitis C virus (HCV) co-infected patients after antiretroviral therapy (ART).Methods The demographic and clinical data of HIV-HCV coinfected patients in Zhongnan Hospital,Wuhan University and local Centers for Disease Control and Prevention (CDC) from Jan 2003 to Dec 2010 were analyzed retrospectively. Single factor and multiple factor Logistic regression were used to analyze the correlation between the variables and incidence of ESLD,such as baseline age ≥40,male,previous blood transfusion history,duration of HCV persistent infection,hepatitis B virus (HBV) co-infection (HBsAg positive),HIV RNA≥-1 ×104 copy/mL at last visit,HCV RNA≥ 1.× 105 copy/mL at last visit,CD4 count ＞ 200 / μL at last visit,alanine aminotranferase (ALT) ≥ 2 × upper limit normal (ULN) at last visit,ART containing nevirapine (NVP),follow-up duration,ART duration＞5 years and HCV genotype 1b.The effect of ESLD on the survival of HIV-HCV co-infected patients was analyzed by Kaplan-Meier method.Results Totally 427 HIV-HCV co-infected patients were followed up with average of 3.7 years. Fifty-five patients (12.9％) developed ESLD,and 52 patients (12.2％) died.Factors independently associated with ESLD included baseline age≥40 (OR=2.385,P=0.039),ALT ≥2× ULN (OR=16.374,P=0.000),HBV-coinfection (OR=2.507,P=0.042),duration of ART ＞ 5 years (OR=3.232,P=0.010),and CD4 count ≥200/μL (OR=0.364,P=0.011).The cumulative mortality of HIV-HCV co-infected patients with ESLD was 50.9％,whereas that of HIV-HCV co-infected patients without ESLD was 6.5％ (P=0.000).Conclusion In the ART era,ESLD is common among HIV-HCV co-infected patients in China,which is responsible for reducing the survival time of the patients.

In previous study, glutaric acid (GA) induced apoptosis of primary striatal neuron in vitro. In order to investigate the neurotoxic effects of GA on neonatal rat corpus striatum and the possible mechanism, 34 male pups were randomly assigned to NS group, low dose GA (LGA, 5 μmol GA/g body weight) group and high dose GA (HGA, 10 μmol GA/g body weight) group. These pups were subcutaneously administered with three injections from postnatal day 3 to 22 at 7:30 am, 15:00 pm and 22:30 pm and killed 12 h after the last injection. Microscopic pathology in corpus striatum was evaluated by HE staining. The apoptotic cells were identified by TUNEL staining. The transcript levels of caspase-3, 8, 9, Bax, Bcl-2 were detected by using real-time PCR and the protein levels of procaspase-3 and the active fraction were evaluated by Western blotting. In LGA and HGA groups, ventricle collapse, cortical atrophy by a macroscope and interstitial edema, vacuolations, widened perivascular space of bilateral striatum by a microscope were observed. TUNEL assay revealed that the apoptotic cells were increased in LGA and HGA groups. The transcript of caspase-3 was up-regulated to 2.5 fold, accompanied by the up-regulation of caspase-9, Bax and down-regulation of Bcl-2. The protein levels of procaspase-3 and the active fraction were up-regulated in LGA and HGA groups. The rat model for GA I showed mitochondrial apoptotic pathway may be involved in the GA-induced striatal lesion. Further studies should be taken to investigate the underlying mechanisms.

Objective:To understand the patients'satisfaction on catastrophic medical insurance of New Rural Cooperative Medical Scheme ( NRCMS ) , and provide references for effective management and policy improvement. Methods:According to the principles of representative sampling, a questionnaire survey conducted. 484 patients got compensation for catastrophic insurance in 2013 were surveyed, and information of medical costs was analyzed. Re-sults:The average medical cost accounts for 84. 57% of total household expenditure. Mandatory medical expenditure is still high and economic burden of diseases is heavy. This policy has increased the compensation rate, and the actu-al compensation rate increases 4. 79% in three districts. The average score of patients' attitude toward catastrophic medical insurance is (3.95±1.05) points, 88. 43% of patients continue to participate in medical insurance. Con-clusions and suggestions:Patients' satisfaction on catastrophic medical insurance of NRCMS is high. It is suggested that the existing financing modes should maintain stability in the short term, and the compensatory rate should be im-proved reasonably.

Objective To investigate the expressions of insulin receptor substrate-1 (IRS-1) and insulin receptor sub-strate-2 (IRS-2) in adipocytes during catch-up growth in neonatal rats with intrauterine growth restriction (IUGR) and their correlations with the insulin resistance. Methods Sprague-Dawley rats (clean grade) were randomly divided into control group and food-restricted group after fertilization. Food-restricted group were received about 30%of food amount consumed in control group every day through the whole pregnant period to establish IUGR animal model, and were fed increased amount of breast-milk from postnatal day 1 to 21 to establish the period of catch-up growth in IUGR animal model (IUGR-CG). Fasting serum glu-cose, insulin and triglyceride were measured in blood from heart ventricles of 4-week old SD rats and insulin resistance index was calculated. Pre-adipocytes and mature adipocytes were obtained from SD rats at different age (1-week, 3-week, 5-week and 7-week old) and the former were induced to differentiate toward mature adipocytes. The levels of IRS-1, IRS-2 in the two kinds of mature adipocytes were detected by Real-Time PCR and Western blot. Results The expression levels of IRS-1, IRS-2 mRNA in mature adipocytes of IUGR-CG rats were signiifcantly lower than those of IUGR rats at 5-weeks and 7-weeks old (P<0.05) while the ex-pression levels of IRS-1, IRS-2 mRNA in differentiated adipocytes of IUGR-CG rats were signiifcantly lower than those of IUGR rats at 5-weeks old (P<0.05). The expression levels of IRS-1, IRS-2 protein in two kinds of adipocytes (mature and differentiated adipocytes) of IUGR-CG rats were signiifcantly lower than those of IUGR rats from postpartum week 1 through 7 (P<0.05). Conclusions IRS-1 and IRS-2 expression levels are downregulated in adipocytes during catch-up growth of IUGR rats, which may be closely related with insulin resistance.