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 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.

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 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.

Objective To investigate the efficacy and safety of Tripterygium wilfordii Hook F (TwHF) combined with renin-angiotensin system (RAS) blockers in chronic kidney disease (CKD) stages 2~3 of IgA nephropathy. Methods 109 patients were randomized into the observation group and the control group. On the basis of taking RAS blockers, patients in the observation group received TwHF, and patients in the control group received methylprednisolone. The proteinuria, renal function and adverse effect were observed during treatment. Results At 3, 6, 9 and 12 months of treatment, proteinuria in the two groups was lower than the baseline(P <0.05). During follow-ups, there was no significant difference of eGFR between the two groups and baseline (P >0.05). Besides, there was no significant difference in terms of proteinuria, eGFR and effective rate in the two groups. The occurrence rate of adverse effects was 9.8% vs 27.4% and there was significant difference in the two groups (P < 0.05). Conclusions TwHF combined with RAS blockers can decrease proteinuria, protect renal function and have less adverse effects, and it is a useful therapeutic options for CKD stages 2 ~ 3 of IgAN.

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.

Objective To investigate the association between 2 single nucleotide polymorphisms( SNPs) [rs2243250 in interleukin(IL)- 4 gene and rs1800925 in IL - 13 gene]in Henoch - Schonlein purpura(HSP)and Henoch - Schonlein purpura nephritis(HSPN)in Han Chinese children. The level of IL - 4 and IL - 13 in serum were compared between HSP and HSPN. Methods A case - control study was adopted in this research,and 383 children with HSP or HSPN were recruited in this study,409 normal children served as controls. The genotypes of 2 SNPs were detected by using polymerase chain reaction - restriction fragment length polymorphism(PCR - RFLP),and the serum levels of IL - 4 and IL - 13 in HSP and HSPN patients were detected by using enzyme linked immunosorbent assay (ELISA). All the data were analyzed by SPSS 16. 0 software. Results (1)There was no association(polymorphism of SNP rs2243250 in IL - 4 gene)in HSP group and HSPN group compared with the healthy control group(P ﹥ 0. 05);and the polymorphism of another SNP(rs1800925 in IL - 13 gene)was associated with HSP(P = 0. 037),and the fre-quency of T allele of the study group was higher than that of the healthy control group(P = 0. 027). But there was no difference between the study group(HSP group and HSPN group)and the healthy control group in frequency of TT genotype(P = 0. 132),and there was no association between HSPN group and healthy control group(P = 0. 487);also there was no association between polymorphism of this SNP in HSP group and HSPN group(P = 0. 129).(2)There was an association between polymorphism of IL - 13 gene and IL - 13 level in serum,patients with TT genotype had a higher serum IL - 13 level than any other genotypes(P ﹤ 0. 05),but there was no statistically significant difference in IL - 4 level between TT genotype and other genotypes(P ﹥ 0. 05).(3)There was an association between polymorphism of IL - 13 gene and IL - 13 level in serum patients with HSPN who had a higher level of serum IL - 13 than the patients with HSP( P ﹤ 0. 05),but there was no difference in serum IL - 4 level between HSP group and HSPN group. Conclusions The polymorphism of SNP(rs1800925 in IL - 13 gene)was associated with HSP group,and the poly-morphism of this SNP might affect the level of IL - 13 in serum. The patients with HSPN have a higher level of serum IL -13 than the patients with HSP,and high level of IL -13 may be a risk factor in the progression from HSP to HSPN.