Purpose To explore the clinicopathological and molecular genetic features of phytosterolemia(PTSL)with necrobiotic xanthogranuloma.Methods 4 cases of PTSL with necrobiotic xanthogranuloma as the primary mani-festation were reviewed.Gene mutations were detected by whole-exome sequencing and screened and verified by Sanger sequencing.The clinical manifestations,laboratory tests,genetic testing results,treatment and prognoses of the pa-tients were analyzed.Results All 4 patients developed subcutaneous masses on the face over a period of 3-13 years.Case 4 showed weakness of both lower limbs and an intracranial mass on MRI.Blood smear analysis revealed that the patients had platelets of varying sizes and were generally large,with increased stomatocytes.Total cholesterol(6.9-11.36 mmol/L)and low-density lipoprotein(4.45-7.08 mmol/L)were elevated in 4 patients.Genetic analysis re-vealed that cases 2 and 4 carried heterozygous mutations in the ABCG5 gene,and case 3 had a homozygous mutation in the ABCG8 gene.Conclusion Thrombocytopenia,stomatocytosis and splenomegaly are the special clinical manifesta-tions of patients with PTSL,and necrobiotic xanthogranuloma may be one of the late manifestations of the disease.Early genetic testing plays a critical role in the timely diagnosis and management of PTSL.

Purpose To explore the clinicopathological and molecular genetic features of phytosterolemia(PTSL)with necrobiotic xanthogranuloma.Methods 4 cases of PTSL with necrobiotic xanthogranuloma as the primary mani-festation were reviewed.Gene mutations were detected by whole-exome sequencing and screened and verified by Sanger sequencing.The clinical manifestations,laboratory tests,genetic testing results,treatment and prognoses of the pa-tients were analyzed.Results All 4 patients developed subcutaneous masses on the face over a period of 3-13 years.Case 4 showed weakness of both lower limbs and an intracranial mass on MRI.Blood smear analysis revealed that the patients had platelets of varying sizes and were generally large,with increased stomatocytes.Total cholesterol(6.9-11.36 mmol/L)and low-density lipoprotein(4.45-7.08 mmol/L)were elevated in 4 patients.Genetic analysis re-vealed that cases 2 and 4 carried heterozygous mutations in the ABCG5 gene,and case 3 had a homozygous mutation in the ABCG8 gene.Conclusion Thrombocytopenia,stomatocytosis and splenomegaly are the special clinical manifesta-tions of patients with PTSL,and necrobiotic xanthogranuloma may be one of the late manifestations of the disease.Early genetic testing plays a critical role in the timely diagnosis and management of PTSL.

Objective To investigate the clinicopathological features,immunophenotype,diagnosis and treatment of SMARCA4(BRG1)-deficient carcinoma.Methods Clinical data of 11 patients with SMAR-CA4(BRG1)-deficient cancer were collected.The morphologic and immunohistochemical features of this tumour were summarized,and the relevant literature was reviewed.Results Among the 11 cases of SMARCA4(BRG1)-deficient carcinoma,eight were male and three were female,with median age of 60.Seven patients underwent radical resection,and four underwent traditional joint targeted chemotherapy and immunotherapy.Microscopically,the tumor cells were epithelioid,rhabdoid or spindle-shaped,with prominent eosinophilic nucleoli and frequent mitoses(>5/10 HPF).Multiple foci of necrosis were found in the tumor tissue,a large number of tumor emboli in the blood vessels and myxoid stromal degeneration.Among these cases,11 cases showed loss of SMARCA4(BRG1)expression,whereas the CK and Vim markers were expressed,SMARCB1(INI1)expression was retained,and p53 mutation was detected.The tumor cells showed high proliferation activity(Ki-67>60%),and synaptophsin was moderately positive.Three cases were mismatch repair deficient and respectively showed the loss of MLH1/PMS2,PMS2 and MSH6 expression.Conclusion The incidence of SMARCA4(BRG1)-dificient carcinoma is low.It can be easily confused with other tumors and is difficult to be diagnosed before operation,which requires confirmation by immunohistochemistry.

OBJECTIVES: The mechanism for traditional Chinese medicine in treating of recurrent spontaneous abortion is not clear. This study aims to explore the mechanism of baotaiyin in the treatment of recurrent abortion by regulating the immune inflammatory axis of interleukin (IL)-23/helper T cell (Th)17. METHODS: Spontaneous abortion model mice were randomly divided into a model group, 3 dose (low, medium, and high) groups of baotaiyin, with 10 mice in each group. After 14 days of medication, the levels of IL-17, IL-23, IL-10, and TGF-β in serum were detected with enzyme-linked immunosorbent assay. The proportion of Th17 and regulatory T cells (Treg) cells in spleen lymphocytes was tested with flow cytometry. The expressions of (retinoid-related orphan receptor γt, ROR-γt) and forkhead box P3 (FOXP3) mRNA in decidua tissues was detected with RT-PCR. Embryo absorption rate was counted. RESULTS: Compared with the model group, the absorption rate of embryo and Th17/Treg cell ratio in baotaiyin medium- and high-dose groups were decreased significantly (all P<0.05); the levels of IL-17 and IL-23 in serum were decreased (both P<0.05), while the levels of TGF-β and IL-10 in baotaiyin medium- and high-dose groups were increased (P<0.05, P<0.01, respectively); the expression of ROR-γt mRNA was decreased and the expression of FOXP3 mRNA was increased (all P<0.01) in decidua tissues of baotaiyin medium- and high-dose groups. CONCLUSIONS Baotaiyin inhibits the positive feedback cycle of IL-23/Th17 immune inflammatory axis, which regulates Th17/Treg cell balance, mediates the maternal and fetal immune tolerance, and prevents the recurrent abortion.
Mice ; Animals ; Female ; Humans ; Pregnancy ; Interleukin-23 ; Interleukin-17/genetics* ; Interleukin-10 ; Abortion, Habitual ; Transforming Growth Factor beta/genetics*

Objective To investigate the clinical value of olfactory functional magnetic resonance imaging in early diagnosis of Alzheimer's disease (AD).Methods 43 patients with mild cognitive impairment were selected,in the same period,49 cases of patients with AD were selected as the AD patients group,and 53 normal populations were selected as the control group.The neuropsychological of all cases were assessed by using MMSE scale,MoCA scale and CDR Scale.Siemens 3.0T MRI machines were used according to event -related design approach for olfactory cor-tex conducted fMRI scans.The matlab7.0 and SPM8 data preprocessing tools were used to image analysis.The prima-ry olfactory cortex volumes and activation voxels numbers of the three groups were compared.The correlations of acti-vation voxels numbers and primary olfactory cortex volumes and neuropsychological scores were analyzed.Results The primary olfactory cortex volumes of the control group,patients with mild cognitive impairment and AD patients were (3 846 ±517)mm3 ,(2 863 ±367)mm3 and (2 214 ±283)mm3 ,respectively,pairwise comparison,the control group >mild cognitive impairment >AD patients,the differences were statistically significant (compared with the con-trol group,t =16.835 and 34.716,compared with mild cognitive impairment group,t =19.753,P <0.05).The acti-vation voxels numbers of the control group,patients with mild cognitive impairment and AD patients were (193 ±84), (104 ±52)and (51 ±27),pairwise comparison,the control group >mild cognitive impairment >AD patients,the differences were statistically significant (compared with the control group,t =47.916 and 72.954,compared with mild cognitive impairment group,t =37.382,P <0.05).Partial correlation analysis showed that the activation voxels num-bers of the three groups were positively correlated with primary olfactory cortex volume,MMSE score and MOCA score (r =0.397,0.462 and 0.494,all P <0.05).Conclusion Olfactory fMRI in patients with AD might reflect the changes in the entorhinal cortex caused by pathological changes.It could provide clues and information for the early diagnosis of AD.

Purpose To investigate the expression of autophagy-related protein LC3B in cervical squamous carcinoma and its relation-ship with Ki-67 expression. Methods To detect the expression of LC3B in 16 cases of normal cervical tissues and 126 cases of squa-mous cell carcinoma by immunohistochemical staining. In addition, Ki-67 protein was also detected in 126 cases of squamous cell car-cinoma in the same assay. The relationship between LC3B expression and Ki-67 in cervical squamous cell cancer was statistical analy-sis. Results Expression level of LC3B were significantly lower in cervical squamous carcinoma than normal squamous epithelial cells (P<0. 05), and the expression of LC3B was negatively correlated with Ki-67(rs = -0. 248, P<0. 05). Conclusion It appears that decreased levels of autophagy which indicated by low expression of LC3B may promote cancer cell proliferation in the early stages of cervical squamous cell carcinoma, which provides a clinical referential evidence for further explore the mechanism of autophagy in cer-vical cancer development.

OBJECTIVETo observe the preventive effects of multi-glycoside of Tripterygium wilfordii (GTW) on glomerular lesions in experimental diabetic nephropathy (DN).

METHODThe DN model of rats was established with streptozotocin (STZ) and intervened with GTW. In the same time, normal, benazepril, and vehicle control groups were set up. After 8 weeks of oral treatment with GTW (50 mg x kg(-1) BW), benazepril (6 mg x kg(-1) BW), and vehicle (physiological saline), the changes of body weight, urine albumin (UA1b), blood glucose (BG), serum creatinine (Scr), blood urea nitrogen (BUN) and glomerular morphology were examined. In addition, the level of protein expression of alpha-smooth muscle actin (alpha-SMA) and collagen type I in glomeruli was determined by immunofluorescence.

RESULTBoth GTW and benazepril reduced UA1b. GTW ameliorated glomerular injury, such as mesangial cell proliferation, alpha-SMA and collagen type I over-expression, in DN model. Compared with benazepril, beneficial effects of GTW on glomerulusclerosis were more significant (total cell number: GTW group 54.44 +/- 2.41, benazepril group microg/67.83 +/- 4.41, P < 0.05; alpha-SMA score: GTW group 1.98 +/- 0.52, benazepril group 2.27 +/- 0.46, P < 0.05; collagen type I score: GTW group 2.11 +/- 0.37, benazepril group 2.88 +/- 0.58, P < 0.05).

CONCLUSIONPreventive effects of GTW on glomerular lesion in DN model are related to decreasing UA1b and ameliorating glomerulusclerosis.

Animals ; Diabetic Nephropathies ; drug therapy ; metabolism ; prevention & control ; Disease Models, Animal ; Glycosides ; administration & dosage ; Humans ; Kidney Glomerulus ; drug effects ; injuries ; metabolism ; Male ; Plant Extracts ; administration & dosage ; Random Allocation ; Rats ; Tripterygium ; chemistry

Objective To study the preventive effect of spironolactone on renal tubulointerstitial fibrosis of diabetic nephropathy (DN)in rats.Methods Sixty adult SD rats were random divided into sham operation group(C),diabetic nephropathy group(D)and spironolactone interventional group(A).After diabetes WaS induced by administrating strep tozotocin(STZ),spironolactone was perfused into the stomach of rats in group A.On the 7th,14th,21st,28th days after treatment,rats were put to death,their kidneys were removed to observe the expressions of TGF-β1 and MMP-9 by immunohistochemistry method.The blood potassium,natrium,glucose, serum creatinine,cholesterol,triglyceride and urinary albumin quantification were measured.Results Urine protein in group A wag lower than that in group D.The blood potassium,natrium,glucose,serum creatinine,cholesterol and triglyceride had no difference between group A and group D(P＞0.05).Compared with group D,the expressions of TGF-β1 in group A Was decreased(P＜0.01),the expressions of MMP-9 in group A was hisher than that in group D(P＜0.01).Conclusion Spironolactone could decrease the expression of TGF-β1 and increase the expression of MMP-9 in the tubulointerstitial of diabetic nephropathy,which may delay the progress of renal tubulointerstitial fibrosis.

Objective To study the effects of di-(2-ethylhexyl) phthalate(DEHP) on the organs of rats.Methods Male Wister rats were divided into five groups,four exposure groups and one control group,10 in each.The exposure groups were given with DEHP at the doses of 1 500 mg /kg,3 000 mg /kg,4 500 mg /kg,6 000 mg /kg respectively,by gavage,28 consecutive days.The rats were weighed every 4 days,after 28 days,the rats were killed and the organ coefficients were calculated and the pathological examination was done.Results The weight of four exposure groups reduced significantly(P