OBJECTIVE: To investigate the expression of heparanase in nasopharyngeal carcinoma and the relationship between the expression of it and clinically pathological features of nasopharyngeal carcinoma. METHOD: The expression of heparanase protein in 70 cases of nasopharyngeal carcinomas and 10 cases of normal nasopharyngeal tissues was detected by immunohistochemical staining. The date of expression combined clinical features, which included clinical stage, cervical lymph node metastasis rate, the rate of metastasis and recurrence, combination of, the 5-year survival rate, and other analysis, was analyzed. RESULT: The positive rate of heparanase protein in cancerous tissues was 52.9% (37/70), while it was 0% in normal nasopharyngeal tissues. The positive rates of heparanase protein in patients were 30.0% (6/20) in stage I, 45.80% (11/24) in stage II, 70.6% (12/17) in stage III, 88.9% (8/9) in stage IV respectively. Heparanase positive tumors were associated with a higher incidence of lymph node metastasis (67.4%, 31/46) than heparanase negative ones (25.0%, 6/24). The rate of distant metastasis and regional recurrence in the heparanase positive group was 48.6% (18/37), but only 15.2% (5/ 33) in the heparanase negative group. The cumulative survival of patients in the heparanase negative group at 5 years was 78.8% (26/33), but only 24.3% (9/37) in the heparanase positive group. The clinical stage of disease, lymph node metastasis, the rate of distant metastasis and regional recurrence of nasopharyngeal carcinoma were correlated with positive expression of heparanase protein. CONCLUSION: The expression of HPA was associated with invasion and metastasis and prognosis of nasopharyngeal cancer, and it may be a new target for the anti-treatment of nasopharyngeal cancer. (P < 0.01), and heparanase expression level inversely correlated with the patient survival (P < 0.01). CONCLUSION Heparanase may play important roles in the invasive infiltration, metastasis, and prognosis in nasopharyngeal carcinoma, clearly indicating that heparanase is a possible target for anticancer drug development.
Adolescent ; Adult ; Aged ; Case-Control Studies ; Female ; Glucuronidase ; metabolism ; Humans ; Lymphatic Metastasis ; Male ; Middle Aged ; Nasopharyngeal Neoplasms ; metabolism ; pathology ; Neoplasm Staging ; Prognosis ; Survival Rate ; Young Adult

OBJECTIVE: To report on a case of Smith-Magenis syndrome (SMS) due to a rare small-scale deletion. METHODS: Muscle samples from the the third fetus was collected after the in Medical history and clinical data of the patient were collected. The child and his parents were subjected to chromosome karyotyping analysis, multiplex ligation-dependent probe amplification (MLPA) and copy number variation sequencing (CNV-seq). RESULTS: The child was found to have a normal karyotype. MLPA and CNV-seq detection showed that he has harbored a 1.22 Mb deletion and a 0.3 Mb duplication in the 17p11.2 region. Neither of his parents was found to have similar deletion or duplication. CONCLUSION The child was diagnosed with SMS due to a rare 1.22 Mb deletion in the 17p11.2 region, which is among the smallest deletions associated with this syndrome.
Abnormalities, Multiple/genetics* ; Child ; Chromosome Deletion ; Chromosomes, Human, Pair 17 ; DNA Copy Number Variations ; Humans ; Intellectual Disability/genetics* ; Male ; Smith-Magenis Syndrome/genetics*

Objective:To summarize the relationship between the clinicopathological features and prognosis of immunoglobulin A nephropathy (IgAN) after renal transplantation.Methods:A total of 34 patients with IgAN after renal transplantation confirmed by renal biopsy were enrolled. And another 34 patients with primary IgAN confirmed by initial renal biopsy were adopted as controls. Clinical and pathological features of two groups were compared to explore the relationship between clinicopathological features and prognosis of allograft IgAN.Results:As compared with primary IgAN group, renal function in allograft IgAN group included serum creatinine [(158.5±75.9) vs (84.8±26.8) umol/L], urea nitrogen [(9.7±6.1) vs (5.2±1.4) mmol/L], uric acid [(406.7±87.8) vs (359.0±92.6) umol/L], estimated glomerular filtration rate {(57.4±25.4) vs (91.2±28.6) [ml/(min·1.73m 2)]}. All were statistically significantly higher ( P<0.05) while other parameters showed no differences. Pathologically, the proportion of T1 type (50.0% vs 17.6%) of renal tubular atrophy/interstitial fibrosis was significantly higher in allograft IgAN group than control group ( P<0.05). Furthermore, univariate and multivariate Logistic regression analyses were performed between various pathological parameters and prognosis in allograft IgAN patients. It indicated that the degree of mesangial hyperplasia of patients with transplanted IgAN had a significantly negative impact on the prognosis. Conclusions:The clinicopathological features of patients with allograft IgAN show no difference from those of patients with primary IgAN. And among patients with allograft IgAN, those with severe mesangial hyperplasia often have a worse prognosis.