0.05).Patients with mucitis of the study group and the control group were 0 and 7.The difference in statistics analysis was significant(P

Objective To analyze and identify the mutations of ATP6V0A4 and ATP6V1B1 gene in autosomal recessive distal renal tubular acidosis (rdRTA) children,and study the association of genotype and phenotype. Methods Genome DNA was amplified by PCR.Mutations of ATP6V0A4 and ATP6V1B1 gene in 3 children from 3 families were examined by direct sequencing.One hundred unrelated healthy subjects were selected to evaluate all mutations found in this study. Results A novel homozygous nonsense mutation was identified in ATP6VOA4 gene in one child, and a novel heterozygous nonsense variant and a frame-shift alteration were found in another child.No mutation of both genes was found in the third child.Conclusions Study of mutant genes of rdRTA in Chinese patients is helpful to understand the association in genotype and phenotype and increase the level of cognition and treatment to this disease.

Purpose To investigate the clinical and pathological features of amyloid nephropathy. Methods A retrospective analysis was conducted in 31 cases of amyloidosis nephropathy. The clinical data and pathologic features of kidney biopsy were analyzed. Re-sults 31 cases of amyloid degeneration accounted for 1. 19% (31/2 603) in all patients of kidney biopsy in the same period. 15 pa-tients were female, and 16 males. Patients’ age ranged from 36 to 77 years old, with mean age of (61. 28 ± 10. 95) years. Clinical staging showed that simple proteinuria were 4 cases (12. 90%), nephrotic syndrome, 21 cases (67. 74%), and renal failure, 6 cases (19. 35%). Under microscope, amyloid deposits were observed in the glomerular mesangial area, capillary basement membrane and small arteries, and those also deposited between renal interstitial and tubular basement membrane in severe cases. Potassium permanga-nate oxidation Congo red staining showed that AL type were 27 cases and AA 4 cases. Immunofluorescence study in some cases showed some degree of weak immunoglobulin and complement deposition, but some cases were negative. Immunohistochemical staining showed different expression of immunoglobulin light chain κ and λ light chains. Under electron microscope, amyloid fibrils were noted in the mesangial area and capillary walls. Conclusion Amyloidosis nephropathy occurs in middle-aged patients with kidney disease, some-times lack of specific clinical manifestations. Renal biopsy is the only approach to confirm the diagnosis. For suspicious patients, renal biopsy should be done as early as possible.

Purpose To explore the role of cell blocks combined with immunohistochemical examination in the diagnosis and differential diagnosis of malignant pleural effusion,and to explore the role of pleural effusion cell blocks in lung adenocarcinoma molecular pathology examination.Methods 142 cases of malignant pleural effusion based cytology,cell blocks of HE staining and immunohistochemical staining by EnVision twostep were retrospectively analysed,the tumor classification was made through analyzing the characteristics of the cells combined with antibody expression.The detection of epidermal growth factor receptor (EGFR) gene mutation of 40 cases of lung adenocarcinoma diagnosed after immunohistochemical staining were used by ARMS-PCR method.Results Among 142 cases of malignant pleural effusion,there were 99 cases caused by lung adenocarcinoma,4 cases of lung small cell carcinoma,3 cases of lung squamous cell carcinoma,13 cases of breast carcinoma,9 cases of ovarian carcinoma,2 cases of gastric carcinoma,1 case of thyroid carcinoma,1 case of endometrial carcinoma,5 cases of mesothelioma,3 cases of lymphoma,1 case of malignant melanoma,1 case of synovial sarcoma.In 40 cases of lung adenocarcinoma pleural effusion cell block,there were 20 cases with EGFR mutations,9 cases of 19del mutations and 11 cases L858R mutations.Conclusion The pleural effusion cell blocks combined immunohistochemistry are useful to improve the accuracy of diagnosis of patients with pleural effusion,and helpful for the determination of classification and the primary site of tumor,assessment of prognosis.Pleural dffusion cell block may used to detect EGFR mutations of lung adenocarcinoma,which provide new source of specimen for the gene detection of lung adenocarcinoma.

Purpose To study the clinicopathological characteristics of primary pancreatic neuroendocrine neoplasms. Method 60 cases of resected pancreatic neuroendocrine neoplasms according to the WHO (2010) classification of the digestive system of neuroen-docrine tumor to evaluate morphological standard, and combining with the literature to discuss the clinicopathological characteristics. Results Among the 60 cases, 23 cases were male patients, the rest were females, with male and female ratio of 1 ∶ 1. 61. The age of the patients were ranged from 19 to 69 years, with mean age of 49. 38 ± 11. 60 years. Tumor maximum diameter ranged from 0. 5 to 16 cm, and the mean diameter was 3. 29 ± 3. 53 cm. 30 cases located in the pancreatic head, 27 cases in the body and end of the pancre-as and 3 cases in the neck. Pathological examination showed the G1 (24 cases), G2 (25 cases), G3 (9 cases), and mixed adenon-euroendocrine carcinoma ( MANEC) in 2 cases. Immunohistochemical staining showed that NSE, CgA, Syn, and CD56 were diffusely positive expression. 45 patients were followed up for 4~80 months, 7 cases died, of which 1 case was G2, 4 cases were G3, and 2 ca-ses were MANEC. Conclusion Primary pancreatic neuroendocrine neoplasms is a relatively rare pancreatic malignant tumor, and the diagnosis is based primarily on histologic features and immunohistochemical examination. Accurate pathological assessment has impor-tant value to guide clinical treatment and prognosis.

OBJECTIVETo investigate the pathological and immunological changes of renal grafts in recipients experiencing graft rejection.

METHODSThe clinicopathologic data of 56 renal needle biopsy samples obtained from renal transplant recipients were analyzed retrospectively. The specimens were classified histopathologically according to the Banff 2009 classification system and analyzed by immunohistochemical labeling and immunofluorescence.

RESULTSIn the 56 recipients, 1 (1.79%) experienced hyperacute rejection, 8 (14.29%) had suspected acute rejection, 12 (21.43%) developed acute T-cell rejection, 6 (10.71%) had acute antibody-mediated rejection, 2 (3.57%) had acute T-cell rejection with acute antibody-mediated rejection, 12 (21.43%) had chronic active T cell-mediated rejection, 2 (3.57%) had chronic active antibody-mediated rejection, 2 (3.57%) had chronic active T cell-mediated rejection with antibody-mediated rejection, 8 (14.29%) had non-specific interstitial fibrosis and tubular atrophy, and 3 (5.36%) had normal graft function. The expression levels of immune markers CD3, CD4, CD8, CD20, GrB and perforin differed with the types of T cell-mediated graft rejection, and the positivity and expression levels of these markers tended to increased with the severity of graft rejection. The expression of C4d was positive in all cases with antibody-mediated graft rejection.

CONCLUSIONSThe pathological characteristics of the renal biopsy specimens and expression levels of the immune markers allow timely and accurate evaluation of graft rejection type to provide a reliable pathological and etiological basis for clinical treatment and prognostic assessment.

Adolescent ; Adult ; Aged ; Female ; Graft Rejection ; immunology ; pathology ; Graft Survival ; Humans ; Kidney ; immunology ; pathology ; Kidney Transplantation ; adverse effects ; Male ; Middle Aged ; Retrospective Studies ; Young Adult

Objective:To investigate the value of paraffin-embedded section of cell block in the diagnosis of lung adenocarcinoma in bloody pleural effusion.Methods:The data of 60 patients with lung adenocarcinoma diagnosed by bloody pleural effusion and confirmed by pathological biopsy in the First Affiliated Hospital of Xi'an Jiaotong University from June 2018 to June 2019 were retrospectively analyzed. Cell smears and paraffin-embedded sections of cell blocks using removed red blood cells sedim entation method were used to make cytological examination in bloody pleural effusion. The expressions of carcinoembryonic antigen (CEA), cytokeratin 7 (CK7), NapsinA, thyroid transcription factor 1 (TTF-1), cytokeratin 5/6 (CK5/6), calretinin, P63 and P40 in the specimens were detected by using immunohistochemistry. The results of histopathological examination were used as the gold standard, and the diagnostic values of cell block paraffin-embedded sections and cell smears for lung adenocarcinoma in bloody pleural effusion were evaluated and compared.Results:The cell block sections had a clear background, clear and easy to distinguish cell morphology, and can be made into permanent specimens. The bloody pleural effusion cell smears results of 60 cases of lung adenocarcinoma showed that 21 cases were diagnosed as atypical cells, 39 cases were diagnosed as adenocarcinoma, and the coincidence rate with the diagnosis of adenocarcinoma by histopathological examination results was 65% (39/60); the immunohistochemistry results of cell block paraffin-embedded sections of bloody pleural effusion showed that CK7, NapsinA, TTF-1 and CEA were positive, and P40, P63, CK5/6 and calretinin were negative, all 60 cases were diagnosed as adenocarcinoma according to the results, and the coincidence rate with the diagnosis of adenocarcinoma by histopathological examination results was 100% (60/60), which was significantly higher than that of cytological smears ( χ2 = 23.088, P < 0.01). Conclusions:The technique of paraffin-embedded section of cell block using removed red blood cells sedim entation method has a high diagnostic rate for lung adenocarcinoma in bloody pleural effusion, and it has a high coincidence rate with histopathological diagnosis. It can improve the accuracy of diagnosis of lung adenocarcinoma in bloody pleural effusion, and it also has a good reference value for cytological typing.