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Objective@#To explore the clinical and pathological features and mutational types and their relations with WT1 mutation-associated nephropathy (WT1MAN).@*Methods@#The clinical and pathological data and the results of WT1 mutation analysis of the cases from Nanfang Hospital of Southern Medical University, Sun Yat-sen Memorial Hospital and The First Affiliated Hospital of Sun Yat-sen University whom we recruited recently and reported during the last ten years were analyzed.@*Results@#Totally, 20 cases (6 males and 14 females), included 5 newly diagnosed cases, were recruited. (1) Ten children were diagnosed with Denys-Drash syndrome (DDS): The median onset age of proteinuria was 1 year and 7 months. Diffuse mesangial sclerosis (DMS) were revealed in 3 cases, minimal lesions (MCD) in 4 cases, and focal segmental glomerulosclerosis (FSGS) in 1 case; renal pathology was not available in the other 2 cases. Glomerular basement membrane (GBM) thickening was observed in 2 cases. Calcineurin inhibitors (CNIs) were administered in 5 cases, complete remission of proteinuria was observed in 3 cases, partial remission in the other 2 cases. Genetic analysis revealed that six cases had WT1 missense mutation, 3 had nonsense mutation, and 1 had frameshift mutation. (2) Two cases were diagnosed with Frasier syndrome (FS): proteinuria was observed at 1 year and 1 month of age and 1 year and 9 months of age, respectively. FSGS with GBM layering were observed in both cases. They progressed to ESRD at 1 year and 6 months of age and 6 years and 6 months of age, respectively. CNI was tried in 1 case with partial proteinuria remission. Both patients were detected to have WT1 splice mutation. (3) Isolated nephropathy (IN) was observed in 8 cases: three had splice mutation, 5 had missense mutation. Of the 3 patients with splice mutation, one was found to have nephropathy and renal failure at the age of 5 months. The other two cases (1 was FSGS and another MCD), both had GBM layering. CNIs were tried on both of them, one got partial remission with normal renal function at the age of fourteen years, the other one had no response and entered ESRD at the age of 6 years and 9 months. Of the 5 cases with missense mutation, 3 had DMS, 2 of them entered ESRD within 6 months of age, another case had DMS entered ESRD at 9 years of age. One case with FSGS, was treated with CNIs and got complete remission.@*Conclusions@#Slow progression (7/10) nephropathy was observed in DDS patients. Missense mutation (11/20) was the most common type of WT1 variants, followed by splice mutation (5/20) in this group of patients. Early onset nephropathy (4/5), rapid progression (4/5) and GBM layering (4/4) wereobserved in patients with splice mutation. CNI was effective in reducing or even eliminating proteinuria in WT1 MAN patients (8/9).
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AIM:Toinvestigatewhetherandhowhumanchorionicgonadotropin(HCG)treatmentameliorates endometriosis in the endometriotic rat model .METHODS:The rat model of endometriosis was established and the model rats were divided into 4 groups.The rats in HCG groups were treated with 19.4, 25.8 and 51.6 IU/100 g of HCG every day (low-dose HCG, medium-dose HCG and high-dose HCG, respectively).The rats in control group were treated with 0.9%NaCl.After 15 days (3 estrous cycles), the ectopic lesion volume and ultrastructural characteristics in eutopic and ectopic endometria were investigated .RESULTS: After HCG treatment , the volume of endometriotic lesions was signifi-cantly smaller than that before treatment .Numerous and mitochondrial , endoplasmic reticulum and ribosomes were ob-served in the cytoplasm of eutopic and ectopic endometrium before treatment .After treatment , some cell structures were not clear , and mitochondrial cristae decreased or disappeared partly .Some cells were densed and shrinkage , autophagosome in cytoplasm increased , and mitochondria and endoplasmic reticulum swelt .CONCLUSION:HCG therapy appears to be an effective treatment for endometriosis in rats attributed to its influence on cell metabolism dysfunction of eutopic and ectopic endometria .
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Objective To report a Chinese boy suffering from nephrotic syndrome associated with Schimke immuno-osseous dysplasia (SIOD). Methods The clnical data and pathological changes of renal biopsy were analyzed and associated literatures were reviewed. The clinicopathological features and diagnosis of SIOD were discussed. Results The first symptom of the patient was recurrent infections. Growth retardation, spondyloepiphyseal dysplasia accompanied by nephrotic syndrome and defective cellular immunity were seen as clinical features in this patient. Renal pathology showed focal segmental glomerulosclerosis. Conclusion Combining the clinical manifestation with renal pathology, the case is diagnosed as Schimke immuno-osseous dysplasia.
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<p><b>OBJECTIVES</b>To investigate the energy metabolism and post transplantation survival of liver graft under different warm ischemia times (WIT) in rats and determine the maximum limitation of liver graft to warm ischemia.</p><p><b>METHODS</b>According to WIT, the rats were randomized into 7 groups, and WIT were 0, 10, 15, 20, 30, 45, 60 minutes respectively. The indexes of energy metabolism were measured by reversed-phase high performance liquid chromatography (HPLC) and all liver graft specimens were subjected to ultrastructural observation. After orthotopic liver transplantation (OLTx), the recovery of energy metabolism of liver graft after 24, 48 hours and the rats' survival were observed.</p><p><b>RESULTS</b>The levels of adenosine triphosphate (ATP) and energy charge (EC) decreased gradually after different WIT in a time-dependent manner, and especially significant within 30 minutes. The levels of ATP and EC of liver grafts were largely recovered after 24 hours of OLT within 30 minutes of warm ischemia, partially recovered after 48 hours of OLT with 45 minutes of warm ischemia and hardly recovered even after 48 hours of OLT with 60 minutes of warm ischemia. The rat survival time after OLT was not significantly different within 30 minutes of WIT, while the long-term survival was insulted with 45 and 60 minutes of WIT.</p><p><b>CONCLUSIONS</b>The levels of ATP and EC after OLT may be the important criteria to evaluate the quality of liver graft. WIT of liver graft is closely related to both the recovery of hepatic energy metabolism and the liver graft survival.</p>
Subject(s)
Animals , Male , Rats , Adenosine Triphosphate , Metabolism , Energy Metabolism , Graft Survival , Liver , Liver Transplantation , Rats, Sprague-Dawley , Reperfusion Injury , Metabolism , Time FactorsABSTRACT
AIM: By studying the ultrastructure of organs (hearts, brains, lungs, livers, kidneys) and vascular endothelial cells, and changes of physiological and biochemical indexes with multiple organ dysfunction syndrome in the elderly rats, their signification and their developing rules were analyzed. METHODS: Wistar rats(Half of Wister rats were three-month-old and another half of twenty-month-old) were anaesthetized and dealt with cecal ligation puncture (CLP) operation. They were defined as MODSE group and MODSY group, respectively. They were perfused through all vascular circulation by 1% glutaric dialdehyde. These slices were observed under transmission electron microscopy. RESULTS: Physiological and biochemical indexes at 24 huor in elder rats were shown significant difference compared with the younger rats ( P