Objective To observe the clinical efficacy and adverse reactions of desogestrel ethinylestradiol in the treatment of dysfunctional uterine bleeding ( adolescent Dub ) .Methods 86 cases with adolescent functional bleeding were divided into the treatment group and control group ,43 cases in each group .The control group received conjugated estrogen(Premarin) treatment,the treatment group was given desogestrel ethinylestradiol treatment .The hemostatic effect and drug adverse reaction of the two groups were observed .Results The cure rate of the treatment group was 65.1%,that in the control group was 23.3%,there was significant difference between the two groups (χ2 =15.28,P<0.01).The hemostatic time of the treatment group was (33.24 ±12.85)h,which was shorter than (50.31 ± 16.32)h of the control group (t=5.39,P<0.05).The incidence rate of adverse reactions between the two groups had no significant difference (χ2 =0.49,P>0.05).Conclusion Desogestrel ethinylestradiol in the treatment of ado-lescent functional bleeding has exact curative effect ,it has low incidence of adverse reactions and better acceptance .

Objective To explore the change of opioid peptide content such as ?-endorphin(?-EP), dynorphinA_ 1-13(DynA_ 1-13) in plasma and cerebrospinal fluid(CSF) of patients with cerebral hemorrhage, and the interference effect of Naloxone on them.Methods 60 patients with cerebral hemorrhage were randomly divided into Naloxone-treated group and control group. Conventional treatment was used in both groups, then Naloxone-treated group intravenous drip of Naloxone, each 3.0 mg, once a day, for 14 d. The concentrations of ?-EP, DynA_ 1-13 of the patients were measured with radioimmunoassay (RIA) during the acute stage before treatment and at 7th, 14th day after treatment compared with those of normal group (the normal people and the patients were treated by operations). Changes of ?-EP and DynA_ 1-13 in bleeding part and amount of bleeding were analyzed. The scores of GCS and NDS before and after treatment were examined at the same time.Results (1) The content of ?-EP, DynA_ 1-13 in plasma and CSF of patients with cerebral hemorrhage were obviously higher since acute stage than those of the normal group(all P

Objective To explore the clinical features of lissencephaly and the detection ofLISI gene.MethodsThe characteristic of clinical features, laboratory examination and gene detection in one case of lissencephaly was retrospectively analyzed. Meanwhile, the related literatures were reviewed.ResultsA 5-month-old female child diagnosed with epilepsy 20 days ago was hospitalized for convulsive seizure more than 30 times in 3 days. The manifestations were eyes staring, and turning upward, cyanosis of lips and face, froth at the mouth, extremities rigidity and loss of consciousness, and the symptoms can spontaneously remitted in 2-3 minutes. Laboratory examination showed that peripheral blood white cell count was 13.67×109/L, hemoglobin 108 g/L, red blood cell count 3.90×1012/L, lymphocyte 10.26×109/L; maocardial enzyme and hepatic and renal function were normal; blood ammonia was 23 μmol/L and lactic acid 2.11 mmol/L. Long-range video EEG showed highly arrhythmia, and frequent partial epilepsy, and sometimes secondary generalized epilepsy. Head MRI showed lissencephaly. The child was treated with oral administration of Keppra 27 mg/(kg·day), Topiramate 6.5 mg/(kg·day), currently no seizure. The detection ofLIS1 gene found that heterozygous mutation of c.232delG, which lead to protein shift mutation (p.E78NfsX25). No mutation was found in her parents.ConclusionsChild with lissencephaly may combine with epilepsy which may cause by mutation inLIS1 gene. And there was no information about point mutation of c.232delG inLIS1 gene being reported at home and abroad so far.

Objectives To explore the clinical features and diagnosis of LMNA-associated congenital muscular dystrophy. Methods The clinical data from a case of muscular dystrophy caused by LMNA gene mutation were retrospectively analyzed. The related literatures were reviewed. Results A 8-month-old female infant suffered from weakness of raising head, eyelid droop, and motor development retardtion. LMNA gene was sequenced for the infant, her parents and the older sister. Heterozygous mutation of c. 94_96 del AAG (p. K 32 del) was found in the infant leading to the diagnosis of LMNA- associated congenital muscular dystrophy. No mutation was found in the infant’s parents and her older sister. The literature review showed that all ofLMNA- associated congenital muscular dystrophy patients had LMNA gene mutation, more than 80% patients mainly presented with weakness of raising head and may accompany with weakness of proximal limb, motor development retardation, and weakness of axial muscle. Conclusions Mutation analysis of LMNA gene is conducive to the diagnosis of congenital muscular dystrophy.

Objective To investigate the molecular mechanism of calreticulin ( CRT) transcription induced by HBV and its viral proteins. Methods The human hepatocellular cell line, HepG2, was trans-fected with pHBV1. 3 and eukaryotic expression plasmids of HBV viral proteins, respectively. The expres-sion of CRT was measured after transfection. A reporter plasmid of CRT promoter was constructed to analyze the induction of CRT promoter by pHBV1. 3 and HBV viral proteins. Furthermore, two truncated and one C/EBPα site deficient mutants were constructed to evaluate the regulatory effects of HBx on CRT promoter. Fi-nally, HepG2 cells were transfected with HBx expression plasmids and the cellular localization of C/EBPαwas analyzed. Results In this study, pHBV1. 3 could significantly up-regulate the expression of CRT at mRNA and protein levels as well as enhancing the activity of CRT promoter. Among the seven HBV viral proteins, HBx could enhance the activity of CRT promoter and the expression of CRT at mRNA and protein levels. HBx could not induce the transcription of CRT when the C/EBPα binding site was deleted from the CRT promoter. The expression of HBx could promote the nuclear translocation of C/EBPα. Conclusion HBV and its viral protein HBx could up-regulate the CRT expression at transcriptional level. The transcrip-tional factor C/EBPα played a critical role in HBx-induced transcriptional activation of CRT.

Objective To investigate the clinical features and genetic basis of cryopyrin-associated periodic syndrome (CAPS). Methods The clinical manifestations, laboratory tests, and genetic tests of one case of CAPS were retrospectively analyzed. The related literatures were reviewed. Results A 7 year and eight month old male patient had recurrent fever for 7 years and his whole body was covered with patchy red rash which was itchy and faded with pressure. The limbs and joints were normal. The levels of high-sensitivity C-reactive protein, erythrocyte sedimentation rate, rheumatoid factors were increased. The patient had fundus arteriosclerosis, double conjunctival lesions and nerve deafness on both sides. There was no mutation found in NLRP3 gene coding region, but a heterozygous mutation (-2667G>T) had been found in 5 ' untranslated region. Compared with normal control, the mRNA level of NLRP3 increased 4.2 times and the expressions of IL-1βand IL-18 gene increased 2.2 (P=0.002) and 1.2 times (P>0.05). Conclusions The clinical features of CAPS can be recurrent fever, rash, and joint involved. The oph-thalmologic abnormalities and varying degrees of deafness may occur during the progression. The test of NLRP3 gene may help diagnosis.

Objective To explore whether albumin corrected anion gap (ACAG) is associated with long-term mortality of sepsis patients.Methods Adult patients with a diagnosis of sepsis within the first 24 hours (from December 2013 to December 2014) admitted to the intensive care unit (ICU) were included via the Sepsis database of West China Hospital Sichuan University. To record their long-term survival, patients were followed up by telephone interview one year after enrollment. ACAG was calculated according to the anion gap (AG) level within the first 24 hours admitted to ICU, and patients were divided into normal ACAG group (ACAG 12-20 mmol/L) and high ACAG group (ACAG > 20 mmol/L), and clinical characteristics and 1-year mortality were compared between groups. Patients were also divided into survivors and non-survivors according to the 1-year survival outcome, and multivariate logistic regression analysis was conducted to find independent risk factors for long-term mortality of sepsis patients.Results A total of 296 sepsis patients were enrolled in the study, with 191 (64.5%) in the high ACAG group and 105 (35.5%) in the normal ACAG group. There were no significant differences in age, gender, acute physiology and chronic health evaluation Ⅱ (APACHE Ⅱ), sequential organ failure assessment (SOFA), Charlson cormobidity index (CCI) and other background variables between groups. Compared with the normal ACAG group, patients who suffered from multiple organ dysfunction syndrome (MODS) in the high ACAG group were more prone to develop renal and gastrointestinal injury (43.5% vs. 25.7%, 52.9% vs. 33.3%, respectively), had significantly higher serum creatinine [SCr (μmol/L): 89.0 (61.0, 148.0) vs. 67.1 (48.0, 86.0)], greater need for continuous renal replacement therapy (CRRT, 16.8% vs. 6.7%), and significantly shorter length of ICU stay and hospital stay [days: 11 (5, 22) vs. 16 (18, 31), 21 (14, 39) vs. 28 (20, 47)], with statistically significant differences (allP < 0.05). It was shown by Kaplan-Meier survival analysis that 1-year cumulative survival for the high ACAG group was significantly lower than that of the normal ACAG group (55.0% vs. 67.7%,P = 0.046). It was shown by multivariate logistic regression that ACAG [odds ratio (OR) = 1.201, 95% confidence interval (95%CI) = 1.115-1.293,P = 0.000], APACHE Ⅱ (OR = 1.053, 95%CI = 1.011-1.098, P = 0.014), the incidence of septic shock (OR = 2.203, 95%CI = 1.245-3.898,P = 0.007), fungus infection (OR = 3.107, 95%CI = 1.702-5.674,P = 0.000), acute renal failure (OR = 2.729, 95%CI = 1.134-6.567,P = 0.025) and complicated with malignancy (OR = 2.929, 95%CI = 1.395-6.148,P = 0.005) were independent risk factors contributing to increased 1-year mortality among sepsis patients.Conclusion ACAG was an independent risk factor for 1-year mortality of sepsis patients.

Objective The purpose of the study was to investigate the changes and clinical significance of matrix metalloproteinase (MMP)-1,MMP-3,tissue inhibitor of metalloproteinase (TIMP),interleukin (IL)-1,tumor necrosis factor (TNF)-α and transforming growth factor(TGF)-β in juvenile idiopathic arthritis (JIA).Methods Thirty-two JIA subjects and 28 controls (traumatic arthritis patients) were included into this study.The MMP-1,MMP-3,TIMP,IL-1,TNF-α and TGF-β level in the serum and synovia were assessed by ELISA.The WBC count,the level of CRP,ESR,RF were also detected.Independent t-test and Pearson's analysis were adopted for data analysis.Results ① The level of MMP-1,MMP-3,IL-1 and TNF-α in the serum was (158±67) ng/ml,(212±89) ng/ml,(39±19) pg/ml,(26±10) pg/ml respectively,which was significantly higher than that of the control group (all P＜0.05) ; the ratio of MMP-3/TIMP-1 (0.86±0.32) was higher in the study group than that of the control group (P＜0.05),while the value of TIMP-1,TGF-β was (248±88),(17±9) ng/ml respectively,which was lower than that of the control group (P＜0.05).The value of seral MMP-3,MMP-3/TIMP-1 was positively correlated with that of WBC,CRP,ESR in the JIA group (all P＜0.05).② The value of MMP-1,MMP-3,IL-1 and TNF-α in the synovia was (216±78) ng/nl,(766±291)ng/ml,(56±21) pg/ml,(36±14) pg/ml respectively,which was higher than that of the control group (all P＜0.05); the ratio of MMP-3/TlMP-1 (2.68±0.89) was higher than that of the control group (P＜0.05),while the value of TIMP-1,TGF-β was (286±88) ng/ml,(12±4) ng/ml respectively,which was lower than that of the control group (all P＜0.05).③ The value of MMP-1,MMP-3,TIMP-1,IL-1 and TNF-α in the synovia was higher than that in the serum (all P＜0.05),while the value of TGF-β was lower than that in the serum (P＜0.05).Conclusion The value of MMP-1,MMP-3,IL-1 and TNF-α increases both in the serum and synovia,while the value of TIMP-1 decreases.The value of TGF-β decreases,which may have protective effect on JIA.The ratio of MMP-3/TIMP-1 in the serum is positively correlated to inflammation parameters,which may be used to judge the activity of illness in JIA.

Objective To analyze the clinical features and gene mutation in mthylmalonic acidemia (MMA) accompanied by homocysteinemia (cblC), and review the relevant literatures. Methods The clinical features of 3 cases of MMA diagnosed by gene detection were retrospectively analyzed, and meanwhile the pertinent literatures of pathogenesis of MMA, especially combined with late-onset cblC and its gene detection, were reviewed. Results Patient 1 (26 days old) suffered from intermittent convulsions for 3 days, with isosuccinic acid 175.8 μmol/L, C3/C2 rate 1.363, homocysteine >?65 μmol/L and abnormal EEG. MMACHC gene detection found an exon deficiency (delEXON1), which has not been reported. Patient 2 ( 12 year old) was hospitalized for limb shaking, hyperspasmia and vomiting. His isosuccinic acid level was 334.3 μmol/L, C3/?C2 rate was 0.37, homocysteine >?65 μmol/L, and had abnormal EEG. MMACHC gene detection found the mutations of c.482G?>?A and c.609G?>?A. Patient 3 was hospitalized for intermittent convulsions for 20 days, whose isosuccinic acid, C3/?C2 rate, and homocysteine were increased. MMACHC gene detection found the mutations of c.394C?>?T and c.540del8 and c.540del8 had not been reported. Review of literatures discovered that MMA was combined with epileptic seizure in some patents, which further validate that the mutation in MMACHC gene c.482G?>?A may be related to the late-onset of cblC. Conclusions Gene detection contributes to the diagnosis of MMA; the mutation of MMACHC gene c.482G>A may be related to the late-onset of cblC; delEXON1 and c.540del8 are new mutations which have not been reported.

Objective To conduct a prospective,randomly controlled trial,evaluating the combination of tacrolimus,corticosteroids and entecavir for the treatment of adult patients with biopsyproven hepatitis B virus-associated membrane nephropathy (HBV-MN).Methods A total of 38 patients with biopsy-confirmed HBV-MN were randomized to the tacrolimus group (n=19) and the control group (n=19).Patients in tacrolimus group received combination therapy of tacrolimus (0.05 mg·kg-1 · d-1),corticosteroids (prednisone acetate,0.5 mg· kg-1 · d-1) and entecavir (0.5 mg/d),whereas patients in control group received entecavir mono-therapy (0.5 mg/d).The primary end point was the percentage of patients reaching complete remission (CR) or partial remission (PR).Results The probability of remission in the treatment group was 88.89％ and 94.44％ after 6 and 12 months,but only 38.89％ and 58.82％ in the control group,respectively.The decrease in proteinuria was significantly greater in the treatment group.Entecavir was used for the treatment of hepatitis in all patients,which caused the disappearance of serum hepatitis B viral DNA(HBV-DNA) and the normalization of ALT and AST levels in 3 months.Notably,two patients in the control group and one patient in the treatment group reached the secondary end point.One patient in the tacrolimus-treated group showed a relapse during the taper period.Conclusion This treatment protocol not only can control the replication of HBV-DNA but also can reduce proteinuria and preserve renal function,it is one of useful therapeutic options for patients with HBV-MN.