RAG mutations cause a spectrum of severe immunodeficiencies ranging from classical severe combined immunodeficiency( SCID) and Omenn syndrome to an increasing number of peculiar phenotypes. Based on the distinct levels of RAG expression in various patients, their immunophenotypes, histopathological findings and clinical manifestations are diverse. The subtypes of RAG-defect diseases have been described as classical SCID,SCID with maternal T cells,classical Omenn syndrome,atypical Omenn syndrome,granuloma-tous inflammation,predominance/expansion of γδ-T cells and maternal T-cell engraftment. The complete failure or partial blockage of lymphocyte development and differentiation can cause repeated infections with autoimmune reactions frequently,and may be lethal. Thorough assessment and interpretation of various phenotypes will guide accurate diagnosis,definitive treatment and the mechanism research.

Acupuncture Therapy ; Female ; Humans ; Middle Aged ; Thalamic Diseases ; therapy

Objective The different distribution and clinical significance of mean platelet volume (MPV) in the healthy normoglycemic and impaired fasting glucose (IFG) individuals were discussed.Methods The 499 individuals including 184 male and 315 female,who had undergone health checks in Tianjin Huanhu Hospital during May and July 2012 were studied retrospectively.Average age is forty-five ( thirty-five to eighty).Subjects were categorized into four groups according to fasting plasma glucose ( FPG) levels:G1 (3.89 mmol/L≤FPG<5 mmol/L, n=125),G2(5 mmol/L≤FPG <5.5 mmol/L, n=121), G3(5.5 mmol/L≤FPG<6.1 mmol/L, n=142), and G4(6.1 mmol/L≤FPG<7 mmol/L, n=111).G1, G2, and G3 are defined as normal FPG groups and G 4 is defined as IFG group.Eighty-nine cases in the same age patients with type II diabetes mellitus group ( G5 ) were observed at the same time.Results The MPV increased with the increasing FPG levels in the following order:G1(8.62 ±0.77) fl, G2 (8.85 ±0.80) fl, G3(8.90 ±0.69) fl,G4(9.14 ±0.78) fl and G5(12.03 ±1.42) fl.MPV[(12.03 ±1.42) fl] of type Ⅱdiabetes mellitus group(G5) was higher than that in the IFG group (G4)[(9.14 ±0.78) fl] and normal FPG groups[G1(8.62 ±0.77) fl,G2(8.85 ±0.80) fl,G3(8.90 ±0.69) fl] (F=12.773,P<0.01);MPV of the IFG group [ ( 9.14 ±0.78 ) fl ] was significantly higher than that in normal FPG groups [ G1 (8.62 ±0.77) fl,G2(8.85 ±0.80) fl,G3(8.90 ±0.69) fl] (F=12.773,P<0.01 for G4 vs.G1 and G2, P<0.05 for G4 vs.G3) ;MPV in the high-normal glucose group (G3) [(8.90 ±0.69) fl] was obviously higher than that in the low-normal glucose group (G1) [(8.62 ±0.77) fl] (F=12.773,P<0.05);MPV was positively associated with FPG in normal FPG groups ,IFG group and type Ⅱ diabetes mellitus group (G1-3:r=0.22, P<0.05;G4:r=0.26, P<0.01;G5:r=0.29, P<0.01).Conclusions Significant difference of MPV was observed in population of different FPG levels.Especially, MPV in IFG group was evidently higher than that in normal FPG group and was positively associated with FPG levels.

Rheumatoid arthritis (RA) is an autoimmune disease, which is characterized by synovial inflammation. Hyperplasia sublining macrophages found in synovium is an early hallmark of RA and effective treatment results in their diminution. However, the origin of these sublining macrophages in synovium (including infiltrated macrophages and tissue-resident macrophages) are still unknown both in animal models of arthritis and RA patients, let alone the differences and feature of these macro?phages. In rheumatic synovium, macrophages are submitted to a large variety of micro-environmental signals which influence the phenotypic polarization and activation of macrophages. Understanding the mechanisms and functional consequences of the heterogeneous macrophages will contribute to confirm their potential role in synovial inflammation development. Furthermore, research on macrophage plasticity to soft-control their phenotypic polarization could lead to novel therapeutic approaches.

Objective To observe the alteration of bone metabolism and to study the pathogenesis of osteoporosis and factors in elderly patients with chronic obstructive pulmonary diseases (COPD). Methods The biochemical markers of bone metabolism, bone mineral density (BMD) of the lumbar spine and the right femur, parameters of calcaneal quantitative ultrasound(QUS), blood partial pressure and pulmonary functions in 39 male patients with COPD and 30 controls were measured. Results The broadband ultrasonic attenuation (BUA) and the speed of sound (SOS), BMD of the lumbar spines and the femur were significantly lower than that in control group. The biochemical markers of bone metabolism such as HOP/Cr, Ca/Cr, and PTH in the COPD group was significantly raised than that in control group〔(60 2?7 0)dB/MHz vs (66 5?4 9)dB/Mhz,(1 328 4?41 5)m/s vs (1 505 8?26 9)m/s,23% vs 34%,21% vs25%〕. The serum levels of Testosterone(T) reduced significantly ( P

OBJECTIVE:To study the stability of omeprazole sodium solution for injection under the influence of metal ion calcium and magnesium.METHODS:HPLC was adopted to determine the variation of the content of omeprazole sodium solution acted by metal ion calcium and magnesium of different concentrations in different time.The change in colour and luster was also observed.RESULTS:Omeprazole sodium solution tended to disintegrate rapidly along with the prolonging of time,and increase with the increasing of concentration;when Mg2+ was added,change in color was seen,with no degradation substance produced;when Ca2+was added,change in color was also seen,with white deposit produced.CONCLUSION:Ca2+ and Mg2+ show significant influence on the stability of omeprazole sodium solution.

Objective To evaluate the effect of dexmedetomidine on acute kidney injury after cardiac valve replacement with cardiopulmonary bypass (CPB).Methods One hundred patients of both sexes with rheumatic heart disease,aged 32-64 yr,weighing 46-75 kg,of American Society of Anesthesiologists physical status Ⅱ or Ⅲ (New York Heart Association class Ⅱ or Ⅲ),scheduled for elective cardiac valve replacement with CPB,were divided into 2 groups (n =50 each) using a random number table:control group (group C) and dexmedetomidine group (group D).Dexmedetomidine was intravenously infused in a loading dose of 1 μg/kg over 10 min before induction of anesthesia followed by an infusion of 0.4 μg · kg-1 · h-1 until 24 h after operation in group D,while the equal volume of normal saline was given in group C.The urine output per hour during the postoperative 48 h period was recorded.At 6,12,24,36 and 48 h after operation,blood samples were collected from the median cubital vein for determination of serum creatinine levels.The development and severity of acute kidney injury were determined according to the urine output and serum creatinine level.Results Compared with group C,the incidence and severity of acute kidney injury were significantly decreased in the postoperative 48 h period in group D (P＜0.05).Conclusion Dexmedetomidine infused in a loading dose of 1 μg/kg over 10 min before induction of anesthesia followed by an infusion of 0.4 μg · kg-1 · h-1 until 24 h after operation can reduce the development and severity of acute kidney injury after cardiac valve replacement with CPB in patients.

Objective To investigate the distribution of ompA gnne in 15 Chinese reference standard strains belonging to 15 serogroups of Leptospira interrogate, and to express recombinant OmpA ( rOmpA ) and to identify immunogenicity and immunoprotection of rOmpA. Methods Genomic DNAs from different leptospiral strains were extracted by phenol-chloroform method. Entire ompA gene fragments from the strains were amplified by PCR and then sequenced after T-A cloning. A prokaryotic expression system of ompA gene from L. interrogans strain 56601 was constructed, and the expression and yield of rOmpA were determined by SOS-PAGE plus Bio-Rad Agarose Image Analyser. Rabbits were immunized with rOmpA for obtaining antiserum, and immunodiffusion test was used to measure the antiserum's titer. Western blot assay was performed to determine the immunoreaetivity of rOmpA with the antiserum against rOmpA and antiserum against whole cell of L. interrogans strain 56601, while mi-croscopic agglutination test (MAT) was applied to detect the cross agglutination to the 15 L. interrogans strains. A leptospire adhering cell model and a leptospire infecting guinea pigs model were used to determine the adhesion-bloc-king effect of rOmpA antiserum and immunoprotection of rOmpA. Results All the 15 L. interrogans strains, but not L. biflexa strain Patoe Ⅰ , had sequence conserved ompA genes. The yield of rOmpA was approximate 20% of the total bacterial proteins, rOmpA could induce rabbits to produce antibody and immunodiffusion titer of the anti-serum was 1:4. Both antisera against rOmpA and against whole cell of L. interrogans strain 56601 were able to pro-duce positive Western blot signs to rOmpA, and the former offered 1 : 20-1 : 320 MAT titers to the 15 L. interrogans strains. 1: 10-1:160 dilutions of rOmpA antiserum could efficiently block L. interrogans strain 56601 adhering to J774A. 1 cells, and 100 μg and 200 μg rOmpA displayed 50.0% and 75.0% immunoprotective rates in the infee-ted guinea pigs. Conclusion ompA gene only exists in genomes of different pathogenic L. interrogans serogroups. rOmpA has relatively stronger antigenicity, cross immunoreactivity and certain immunoprotection, implying that this recombinant protein may be used as a candidate antigen for developing universal genetic engineering vaccine of L. interrogans.

Objective To evaluate the diagnostic value of 128-slice spiral CT angiography( MSCTA)for bypass grafts in patients after coronary artery bypass grafting(CABG).Methods One hundred and thirty-three bypass grafts (44 IMA grafts,89 saphenous veins grafts) of 46 patients after CABAG operation for 12 to 76 months were examined by MSCTA.Then the coronary angiography(CAG) was performed on those patients 3 - 10 days after MSCTA examination.The MSCTA results were compared with the angiography results.Results Among the 133 bypass grafts,MACTA examination showed that 17 grafts were occluded and 20 grafts were severe restenosis( restenosis degree ＞ 50％ ).There was also 17 occluded grafts showed in CAG examination as in MSCTA results.But 21 restenosis ( restenosis degree ＞ 50％ ) bypass grafts were identified by CAG.Compared with the CAG results,there was 1 false positive and 2 false negative in the MSCTA results.The overall sensitivity and specificity of MSCTA on evaluating the bypass grafts were 94.7％ and 98.9％.The positive predictive value and the negative predictive value were 97.3％ and 97.9％,respectively.Conclusion As a noninvasive examination,128-slice spiral CT could accurately identify and evaluate the bypass grafts lesions after CABG.

Background Neurofilament 200 (NF200) is an indirect indicator of the specific distribution of axons.It reflects the condition of the maintenance of neuronal morphology.Whether NF200 is involved in the damage of the visual pathway after retinal ischemia reperfusion injury (RIRI) should be further examined.Objective The present study was to investigate the expression of NF200 in retinal ganglion cells (RGCs),lateral geniculate nucleus (LGN),superior colliculus and visual cortex following RIRI.Methods Forty SD rats were randomized into the RIRI 1-,2-,3-,4-,6-,8-week groups,sham operation group and control group.Acute intraocular hypertension was induced in the right eye by anterior chamber perfusion of normal saline solution for 60 minutes to elevate the intraocular pressure to 110 mmHg.The animals were sacrificed at different time points for the preparation of the retina,LGN,superior colliculus and visual cortex sections.The expression of NF200 in RGCs,LGN,superior colliculus and visual cortex was assayed by immunohistochemistry.Results The expression level (A value) of NF200 in the RGCs was significantly different among the 8 groups after reperfusion (F =78.855,P =0.000),and that in the 1-week group was significantly lower than in the control group (t =36.563,P＜0.01).In the RIRI 1-week group,the expression of NF200 in the contralateral LGN in the experimental group was significantly lower than that in the control group (t =6.483,P＜0.01).In the 4-week group and 6-week group,the expression of NF200 in the contralateral LGN was significantly higher than that in the control group (t =2.904,4.313,P＜0.01).One week after RIRI,the expression of NF200 in contralateral superior celliculus in the experimental group was significantly lower than that in the control group (t =2.966,P＜0.05),and in the 2-week group,the expression of NF200 in the contralateral superior colliculus was significantly higher than that in the control group (t =7.397,P＜0.01).In the 2-week group,3-week group and 4-week group,the expression of NF200 in bilateral visual cortex was significantly higher in the experimental group than that in the control group (contralateral ∶ t =18.728,18.213,15.088,P＜0.01 ; ipsilateral ∶ t =8.690,5.704,7.805,P＜0.01).Conclusions RIRI can induce axonal damage of RGCs,contralateral LGN,superior colliculus and bilateral visual cortex neurons.