Objective To study the gene mutations and clinical features of mandibuloacral dysplasia with type A lipodystrophy (MADA) in a Chinese family. Methods The information of 5 family members including 2 siblings suspected atyp-ical progeria was assembled. Genomic DNA was extracted from peripheral blood of 5 family members, the 12 exons of LMNA gene were ampliifed by PCR and then the PCR products were directly sequenced and analyzed by using Blast software online. The SIFT and PolyPhen-2 software were used to predict the harmfulness of mutations. Results The 2 siblings were clinically diagnosed as MADA. Heterozygous c.1579C>T (p.Arg527Cys) and c.1583C>T (p.Thr528Met) mutations were detected in this family. The father carried c.1583C>T (p.Thr528Met) mutation, the mother carried c.1579C>T (p.Arg527Cys) mutation, and their normal daughter were all heterozygous carriers with c.1583C>T (p.Thr528Met) mutation. Compound heterozygous c.1579C>T (p.Arg527Cys) and c.1583C>T (p.Thr528Met) mutations in 2 siblings led to MADA. The MADA showed an autosomal re-cessive inheritance pattern in this family. Conclusions The 2 siblings with MADA in this family were caused by compound heterozygous mutations in LMNA gene.

Objective To evaluate the immunoprotection by the inactivated whole bacteria(IWB) of Stenotrophomonas maltophilia K279a in mice.Methods Mice were immunized by inactivated whole bacteria of S.maltophilia K279a made from formaldehyde.When the indicated the antibody titer of the mice reached the require level, the protective effect of the IWB was evaluated by performing the opsonophagocytic killing test in vitro and the poison attack experiments in vivo. Results It was found that IgG in serum of the immunized mice measured by ELISA was significantly increased after the second immune enhancement, and antiserum in vitro had strong phagocytic effect.Meanwhile, immunoprotection of the immunized groups was also significantly increased when challenged by S.maltophilia K279a.Conclusion Effective humoral immune response can be predominantly induced by the inactivated whole bacteria of S.maltophilia K279a, providing protection against challenge by S.maltophilia K279a in BALB/c mice.

Objective To explore the interaction of streptococcus suis serotype 2 recombinant suilysin ( SLY ) with platelets, and provide the theoretical basis for clinic treatment of patients infected with S.suis.Methods The nickel column affinity chromatography was used to purify the recombinant SLY.The hemolytic acivity was identified by optical density before the platelets aggregation induced by a SLY was detected by a platelet aggregometer or electron microscope and the effect of aspirin on platelets aggregation was analyzed.The impact of wild type 05ZYH33 and sly-deficient mutant strainΔSLY on platelets of mice was compared to predict the interaction of the SLY with platelets in vivo.Results and Conclusion Hemolytic activity of recombinant SLY was 2000 hemolytic units( HU) and platelets aggregation was induced at 1 μg/ml.The aggregation can be inhibited by aspirin in 5 mmol/L.SLY can also increase the volume and reduce the amount of platelets in mice.

Objective : To investigate the effect and signaling mechanism of terpinen-4-ol (T4O) on vascular oxida- tive stress injury in mice with chronic kidney disease ( CKD) ． Methods : A CKD mice model was prepared using high phosphorus diet combined with adenine，and the normal group was given an equal volume of saline gavage．The CKD model with low expression of SIRT1 in vivo was established by tail vein injection of lentiviral SIRT1 RNAi for the study of signaling mechanism．The administration groups were given T4O at low and high doses ( 10 mg / kg and 20 mg / kg) for 6 weeks by continuous gavage．Serum was collected to detect urea nitrogen ( BUN) and creatinine ( CRE) levels，and HE staining was used to observe the morphology of blood vessels in the thoracic aorta of mice expression. Results : T4O reduced serum BUN and CRE levels in CKD mice to improve renal function，improved kidney and thoracic aortic vascular morphology，reduced vascular tissue MDA content，increased SOD content，and reduced ROS levels ; T4O intervention promoted Nrf2 nuclear translocation and upregulated HO-1，NQO-1 and SIRT1 protein expression ; LV-SIRT1 RNAi + T4O group was able to inhibit the effect of T4O on CKD-induced MDA and SOD levels，partially counteracting the effect of T4O in upregulating Nrf2 nuclear translocation and the protein expression levels of SIRT1，HO-1 and NQO-1． Conclusion T4O has a protective effect against oxidative stress in- jury in the thoracic aorta of CKD mice，and its molecular signaling mechanism may be related to the level of drug- regulated SIRT1 / Nrf2 cascade signaling.