Objective To investigate the existence and significance of circulating autoantibodies to thrombopoietin (TPO) in sera from patients with systemic lupus erythematosus (SLE).Methods Fifty-six consecutive patients with SLE,twenty patients with idiopathic thrombocytopenic purpura (ITP),and twenty normal individuals were involved in this study.The characteristics of all patients with SLE were analyzed.Antibodies to TPO were detected using an enzyme-linked immunosorbent assay (ELISA).For normal distribution count data,x2 test or Fisher exact test was used,t test was used for measurement data,and Wilcoxon's rank test for non-normally distributed data which was represented by M(Q).Results A higher frequency of antibodies to TPO were observed in SLE patients than those in healthy controls (39.3％ vs 0,x2=11.058,P=0.001).Moreover,anti-TPO antibodies were detected in 15 (57.7％) of 26 SLE patients with thrombocytopenia,compared with that in 7 (23.3％,x2=6.894,P=0.009) of 30 patients without thrombocytopenia.Furthermore,the patients with antibodies to TPO exhibited more severe thrombocytopenia (t=3.010,P=0.004).Finally,anti-TPO antibodies seemed more likely to occur in patients with arthritis (x2=5.959,P=0.015),anti-dsDNA antibodies (x2=5.959,P=0.015).Conclusion The high incidence of antibodies to TPO in SLE patients with thrombocytopenia suggests that anti-TPO antibodies might play a vital role in SLE patients developing thrombocytopenia.Thus,there might be a clinical value by detecting anti-TPO antibodies in SLE patients with thrombocytopenia.

Objective To investigate the hypoglycemic effects of Laminaria japonica (L. japonica) on diabetic model induced by alloxan in rats. Methods Sixty healthy female rats were used to establish diabetic models by injecting alloxan peritoneally, and L.japonica was applied as raw materials for potential marine drugs.The levels of fasting blood glucose (FBG) were detected by automatic blood glucose device. Enzyme linkedimmunoabsorbant assay was applied to determine the insulin level in serum. The shape and structure of isletcells were observed with histopathological staining, and the expression of superoxide dismutase (SOD) and inducible nitric oxide synthase (iNOS) in islet cells were detected by immunohistochemical technique. Results After the treatment, the levels of FBG of L.japonica treated group B [(9.37±1.70) mmol/LandC (9.18±1.65 ) mmol/L, F= 32.81, q=6.35～11.72, P<0.05 ] reduced, while the serum levels of insulin in treated group A, Band C (0.0378±0.0026, 0.0378±0.0027, 0.0367±0.0035) increased(F= 11.40, q=4.28～8.47, P<0.05) significantly than those of diabetic model group (0.0456 ±0.0057) . The shape and structure of islet cells improved with the up-expressing SOD(t=4.73～4.76, P<0.05)and down-expressing iNOS (t=4.81～5.30, P<0.05) in L.japonica treated group B and C than those in diabetic model group. Conclusion L.japonica might decrease the serum level of FBG through promoting the islet cell recovery by an anti-oxide effect.

Objective To investigate the relationship between the serum levels of vascular endothelial growth factor (VEGF) and interstitial lung involvement in patients with systemic sclerosis (SSc).Methods We evaluated the serum levels of VEGF by ELISA in patients with active SSc and normal controls,and the correlation between VEGF and the vital capacity diffusion capacity for carbon monoxide of the lung.Results The serum levels of VEGF in patients with SSc (363 ?178) ng/L was significantly higher than that in normal controls (183?59) ng/L (P

Objective: To study the antitumor effects of transmembrane TNF-? and secretory TNF-? in vivo. Methods: Three types of TNF-? cDNA plasmids (wild type TNF-?; transmembrane TNF-? mutant; secretory TNF-? mutant) were directly injected into tumor-tearing mice. Results: The three types of TNF-? could be expressed by tumor cells and all of them could inhibit evidently the rate of tumor growth. The tumor regression after treatment with transmembrane TNF-? mutant at the early stage was more significant than that with the other two types of TNF-?( P

Objective: Autoimmune polyendocrine syndrome type Ⅰ(APS-Ⅰ) is caused by mutations in the autoimmune regulator gene (AIRE) gene. In this study, phenotype and AIRE gene analysis were performed in two patients with APS-Ⅰ. Methods: Peripheral blood samples were collected from two patients with APS-Ⅰ and their families. All exons of the AIRE gene and adjacent exon-intron sequences were amplified by PCR and subsequently sequenced. The silico analysis was performed to predict the possible impact of the mutations on the function of the AIRE protein. At the same time, 100 healthy controls were selected to confirm the mutation. Results: Case 1 was a 31-year-old female who exhibited chronic mucocutaneous candidiasis, hypoparathyroidism, Addison′s disease, Hashimoto′s thyroiditis, and premature ovarian failure. A homozygous c. 483_484insC mutation in exon 4 of AIRE gene was identified in this patient. Her parents, siblings and son were heterozygous for this mutation, which is consistent with the autosomal recessive inheritance pattern. Case 2 was a 34-year-old male who had mucocutaneous candidiasis, Addison′s disease, primary hypoparathyroidism, and Hashimoto′s thyroiditis. A compound heterozygous AIRE mutation (c.179A>G/C.463+ 2T>C) were identified in this patient. His father was heterozygous for c. 179A>G mutation, and his mother was heterozygous for C. 463+ 2T>C, which is consistent with autosomal recessive inheritance mode. The c. 483_484insC and c. 463+ 2T>C have been reported to be pathogenic. The c. 179A>G mutation was predicted pathogenic by SIFT and PolyPhen2 software, which was not detected in 100 healthy controls. It has not been reported in the HGDM database and is a novel mutation. Conclusion We identified a novel AIRE gene mutation (c.179A>G), which contributed to further understanding of the pathogenesis of APS-Ⅰ. The clinical variation and rarity of APS-Ⅰ makes the syndrome hard to recognize. Early recognition of symptoms and screening for AIRE mutation in patients with APS-Ⅰ has important clinical implications for the diagnosis and treatment.

Two patients with primary hypertrophic osteoarthropathy (PHO) and their available healthy family members were studied.All exons of the SLCO2A1 and HPGD gene and adjacent exonintron sequences were amplified by PCR and subsequently sequenced.To assess the damaging effects of missense mutations in silico,the online database,PolyPhen-2 and SIFT were used.We identified two homozygous mutations in SLCO2A1 gene:one was c.1106G＞A (p.G369D) in exon 9,the other was c.611C＞T (p.S204L) in exon 4.No HPGD mutation was found in the affected individuals.The two mutation were predicted in silico by the bioinformatic tools.Our study further supports the role of mutations in the SLCO2A1 gene in the pathogenesis of PHO.Identification of the genotype in PHO may not only help the clinical diagnosis of PHO but also help the interpretation of genetic information for prenatal diagnosis and genetic counseling.

OBJECTIVE: To evaluate the safety and effect of foley catheter traction for hemorrhage after postmicrochannel percutaneous nephrolithotomy (mPCNL). METHODS: Eighty-eight patients with upper urinary calculi were collected prospectively at the Department of Urology of Xiangya Hospital of Central South University from November 2010 to June 2011. The patients underwent mPCNL, and were divided into 2 groups randomly: 45 patients with 16F foley catheter but without traction served as the control group, and the other 43 patients with 16F foley catheter traction served as the experiment group. Blood loss was estimated by the mass of hemoglobin in the draining liquid and urine during postoperative duration through the HiCN. The blood loss and bleeding time were compared in the 2 groups, and analyzed by Wilcoxon rank sum test. RESULTS: There was statistical difference in the average blood loss between the control group (13.830 g) and the experiment group (7.959 g, P<0 .001). The mean bleeding time was 4 and 3 days in the control group and the experiment group respectively. CONCLUSION Foley catheter traction for mPCNL can reduce the blood loss, suggesting that Foley catheter traction is safe, effective and feasible.
Adolescent ; Adult ; Aged ; Blood Loss, Surgical ; prevention & control ; Child ; Female ; Hemostatic Techniques ; Humans ; Kidney Calculi ; surgery ; Male ; Middle Aged ; Nephrostomy, Percutaneous ; adverse effects ; methods ; Postoperative Hemorrhage ; therapy ; Prospective Studies ; Traction ; Ureteral Calculi ; surgery ; Urinary Catheterization ; Young Adult

Multiple endocrine neoplasia-IIb (MEN-IIb) is a rare hereditary autosomal dominant syndrome caused by mutations in the RET proto-oncogene. It's characterized by medullary thyroid carcinoma (MTC), pheochromocytoma (PHEO), mucosal neuromas, and Marfanoid habitus. Because of the rarity of MEN-IIb and finiteness of clinical cognition, the majority of the patients suffer a delayed diagnosis. A MEN-IIb patient with the lingual mucosal neuromas since childhood was admitted in the Third Xiangya Hospital of Central South University in November, 2018. He had surgical history of mitral valve prolapse and spinal deformity. He was diagnosed with MTC and PHEO at the age of 22 and 28, respectively, and received surgical treatments. Sequencing of RET gene revealed a de novo heterozygous p.M918T mutation in the patient. Being aware of the unique clinical phenotype and screening of RET gene mutation may lead to the early diagnosis and better long-term outcome for MEN-IIb.
Adrenal Gland Neoplasms ; Child ; Genes ; Humans ; Male ; Multiple Endocrine Neoplasia ; Multiple Endocrine Neoplasia Type 2a/genetics* ; Multiple Endocrine Neoplasia Type 2b/genetics* ; Mutation ; Proto-Oncogene Proteins c-ret/genetics* ; Thyroid Neoplasms/genetics*

Neurofibromatosis Type 1 (NF1) is an autosomal dominant genetic disorder caused by NF1 gene mutations. Café au lait spots, neurofibromatosis, Lisch nodules, axillary freckling, dermal neurofibromas and skeletal dysplasia are the most common manifestations for this disease. A 11-year-old boy visited Third Xiangya Hospital, Central South University due to growth-retardation. He was eventually diagnosed as NF1 with growth hormone deficiency. A novel heterozygous splicing mutation c.6579+2 T>C (IVS 34+2 T>C) of NF1 gene was identified in the patient and his mother. Considering NF1 may present with short stature due to growth hormone deficiency, all children with short stature combined with café au lait spots should be screened for NF1, which may assist the clinical diagnosis and the genetic counseling.
Cafe-au-Lait Spots ; diagnosis ; genetics ; Child ; Genes, Neurofibromatosis 1 ; Growth Hormone ; deficiency ; Humans ; Male ; Mutation ; Neurofibromatosis 1 ; blood ; diagnosis