Novel heterozygous BPIFC variant in a Chinese pedigree with hereditary trichilemmal cysts.

BACKGROUND: Trichilemmal cysts (TCs) are common intradermal or subcutaneous cysts, which are commonly sporadic and rarely autosomal dominantly inherited. However, little is known about the disease-determining genes in families with TCs exhibiting Mendelian inheritance. OBJECTIVE: The aim of this study was to identify the causative gene in a family with TCs. METHODS: Whole-exome sequencing was performed on a TCs family to identify the candidate gene. Sanger sequencing was conducted to validate the candidate variants and familial segregation. RESULTS: We identified the heterozygous variant c.3G>C (p.Met1?) within the BPIFC gene. Sanger sequencing confirmed the cosegregation of this variant with the TCs phenotype in the family by demonstrating the presence of the heterozygous variant in all the 12 affected and absence in all the seven unaffected individuals. This variant was found to be absent in dbSNP141, 1,000 Genomes database and 500 ethnicity matched controls. CONCLUSION: Our results imply that BPIFC is a causative gene in this Chinese family with hereditary TCs. Further studies should be performed to validate the role of BPIFC in the pathogenesis of this disease.

[Multicomponent Content Difference Among Different Processing Degrees of Moutan Cortex Charcoal].

Objective: To establish a method of simultaneously determining gallic acid,5-HMF,catechin and paeonol in the different processing degrees of Moutan Cortex charcoal by HPLC,and to compare the difference. Methods: The HPLC separation was carried out on a UltimateTMXB-C18column( 250 mm × 4. 6 mm,5 µm) with a mobile phase of acetonitrile and water containing 0. 5% formic acid. The flow rate was 1. 0 m L / min at 30 ℃ column temperature,and the detection wavelength was 245 nm. Results: The contents of gallic acid and 5-HMF were increased with the extension of processing time,but declined when it reached to a certain extent. And the contents of catechin and paeonol were decreased in the heating process. Conclusion: The differences of compounds content in different processing degree of Moutan Cortex charcoal were greatly. It provides a scientific basis for quality standard of Moutan Cortex charcoal.

[Ki-67 expression and significance of different molecular subtypes of breast invasive ductal carcinoma].

OBJECTIVE: To analyze Ki-67 expression and explore its significance in different molecular subtypes of breast invasive ductal carcinoma (IDC). METHODS: The expressions of estrogen receptor (ER), progesterone receptor (PR), human epidermal growth factor receptor-2 (HER-2) and Ki-67 were detected in 126 cases of IDC by immunohistochemical staining. Then the molecular subtype of each case of IDC was determined.Statistical analysis was performed to determine the relationship between Ki-67 expression and the molecular subtypes with clinicopathological features of IDC. RESULTS: There was no statistically significant difference of Ki-67 expression in age and tumor size (P > 0.05).However, significant difference existed in histological grading and lymph node metastasis (P < 0.05). The expression level of Ki-67 was negatively correlated with ER expression (r = -0.273, P = 0.002) and PR expression (r = -0.242, P = 0.007) and positively with HER-2 expression (r = 0.245, P = 0.006) . A low expression of Ki-67 was in LumianlA subtype (17/17) and high expression in other molecular subtypes. Moreover, the rate of high expression (Ki-67 LI>50%) in each subtype progressively increased with the degree of molecular typing and Ki-67 expression in different molecular subtypes showed significant difference (P < 0.05). CONCLUSIONS: The expression level of Ki-67 is correlated with histological grading and molecular type of IDC. High expression of Ki-67 carries poor prognosis. Thus it is necessary to perform a variety of routine clinicopathological examinations, such as Ki-67, ER, PR and HER-2.

[Study on transdifferentiation of renal tubular cells in rat chronic renal interstitial fibrosis induced by Radix Aristolochiae Fangchi Extract].

OBJECTIVE: To investigate the relationship between renal tubular cells transdifferentiation and chronic renal interstitial fibrosis induced by Fangchi Extract in rat. METHOD: The chronic renal interstitial fibrosis rat model was made by giving Radix Aristolochiae Fangchi extract (RAFE) and aristolichic acid (AA) respectively to rats through infusing stomach about 22 weeks discontinuously. Through immunnal histochemistry methods, investigating the expression of symbol proteins: Cytokine( CK) , alpha-Smooth muscle actin ( alpha-SMA) and Vimentin, and also the important fibrosis inducing factor-Transforming growth factor-beta (TGF-beta1 )on renal tubular cells. RESULT: In RAFE and AA Groups, the expression of CK on renal tubular cells is declined comparing with the Control Group, and the enhanced expression of alpha-SMA and Vimentin can be observed on tubular cells. The expression of TGF-beta1 on renal tubular cells stronglhy increased, too. CONCLUSION: Part of the renal tubular cells was transdifferentiated into myofibroblasts. Renal tubular cells may participate the occurance of chronic renal interstitial fibrosis, TGF-beta1 may accelerate the transdifferentiation of tubular cells.

[Experimental study of chronic renal tubular-interstitial injury induced by Radix Aristolochiae Fangchi Extract in rats].

OBJECTIVE: Following the former report, we continue to observe the chronic renal tubular-interstitial injury induced by Radix Aristolochiae Fangchi Extract(RAFE) in rats in order to understand whether RAFE in different doses causes the renal tubular-interstitial injury or not. METHOD: RAFE at the dose of 25.0 mg x kg(-1) x d(-1), 120.0 mg kg(-1) x d(-1) and 200.0 mg x kg(-1) x d(-1) and aristolochic acid (AA, 10.0 mg x kg(-1) d(-1)) was interruptedly administrated by gastric tube for 22 w and 4 w durg withdrawal. Blood, urine and kidney were taken out respectively in 17 w, 22 w and 26 w to measure the indexes of renal function. The morphology of kidney was observed, and Masson staining of kidney were made respectively to compare RAFE groups with AA group. RESULT: Pathological changes of renal tissue forms were as follows: All RAFE groups and AA group could develop the pathological process of renal tubular injury-chronic renal interstitial fibrosis. The pathologic changes of RAFE were similar with AA. CONCLUSION: RAFE at all doses administrated interruptedly by gastric tube above 13 w caused chronic renal tubulo-interstitium fibrosis. The renal injury in functions and tissue forms in rats were similar with AA closely. The results showed that AA was the main toxic composition of RAFE.

[Experimental study of chronic renal tubular-interstitial injury induced by radix aristolochiae fangchi extract in rats].

OBJECTIVE: To observe the acute and chronic renal toxicity induced by Radix Aristolochiae Fangchi Extract (RAFE) in different doses in rats. METHOD: The conventional method of acute toxicity was used. RAFE at the dose of 25.0 mg x kg(-1) x d(-1), 120.0 mg x kg(-1) x d(-1) and 200.0 mg x kg(-1) x d(-1) and aristolochic acid (AA, 10.0 mg x kg(-1) x d(-1)) were interruptedly administrated to rats for 13 week by gastric tube, and the sample of blood, urine and kidney were collected at 4 week, 8 week and 13 week respectively. The indexes of renal function were measured and the morphology of kidney was observed. RESULT: LD50 of RAFE was 36.8 g x kg(-1) (the crude drug) and the 95% confidence limit was 38.8 - 28.9 g x kg(-1). The changes of renal functions were azotemia, massive proteinuria and the increase of urinary NAGase (beta-N-acetylglucosaminidase) in the earlier period of administration with RAFE in rats. Pathological changes of renal tissue were as follows: acute renal tubular necrosis mainly in the boundary of cortex and medulla was observed in the earlier period, and with the elongation of administration, the pathological process of renal interstitial fibrosis observed in the middle and high groups of RAFE and AA group. CONCLUSION: RAFE at middle and high doses administrated by interrupted gavage above 13 week can cause the injury of renal tubular functions in rats. NAGase can be used as one of observation targets in the earlier period of renal injury.

[Effects of higenamine on the cardio-circulatory system].

Higenamine (HG) is a potent cardioactive benzylisoquinoline alkaloid isolated from Aconiti tuber which has long been used as a cardiotonic in traditional Chinese medicine. HG exerts various effects on the cardio-circulatory system inotropic and chronotropic in isolated rat atria. It also relaxes isolated rat aorta. It inhibits epinephrine, ADP or collagen-induced platelet aggregation in platelet rich plasma. HG inhibits LPS-induced nitrate accumulation and the expression of iNOS mRNA in RAW 264.7 cells. HG lowers blood pressure in rats and increases the recovery rates in acute thrombosis model of mice, and lower the weight of thrombus formed in the arterio-venous shunt model of rats. Higenamine also has ameliorative effects in the LPS-induced DIC model.