1.Research advance in the role of stanniocalcin in the pathogenesis of renal cell carcinoma
Shiqiang SU ; Shujian PANG ; Shaogang WANG
Journal of Medical Postgraduates 2016;(2):210-213
Renal cell carcinoma (RCC) is one of the most lethal malignancies of the urinary system, however, its pathogenic mechanism is not clear.Stanniocalcin (STC) is a type of glycoprotein hormone with multiple biological functions.Recently, the role of STC in the pathogenesis of cancer is of intriguing interest, and many researches have been performed to clarify underlying mechanism. We emphasized the role of STC in the underlying mechanism of RCC progression, from the aspects of STC inducing hypoxia adaptation of tumor cells, promoting tumor angiogenesis, also promoting cell proliferation, apoptosis, invasion and metastasis, and inhibiting the immune response.Conclusively, STC could be used as both a promising biomarker for RCC diagnosis and a theraputic target of renal cell carcinoma.
2.Diagnosis and treatment of cystic nephroma:Report of 25 cases
Shiqiang SU ; Qian ZHANG ; Lizhe LIU ; Yan CHEN ; Cuixia YANG ; Hongjiu LIU ; Shujian PANG
Journal of Medical Postgraduates 2016;29(9):954-957
Objective Cystic nephroma ( CN ) is an unusual benign neoplasm with high misdiagnosis rate , and at present there is no general method on its treatment .This study aimed to analyze the diagnosis and treatment of CN based on clinical data of CN patients. Methods We retrospectively analyzed the clinical data on 25 patients (including 2 cases of male pediatric patients , aged 14 and 16 years old, and the remaining 23 cases were adults, 11 males and 12 females, aged 14-69[45.1 ±19.6]years) treated in our department of the First Hospital of Shijiazhuang from January 2003 to July 2015 .All patients underwent ultrasound , CT and MRI examination , as well as surgical resection . Results Among these 25 CN patients , there were 15 cases of partial nephrectomy , 5 ca-ses of nephrectomy , 2 cases of retroperitoneal laparoscopic cyst unroofing , 1 case of laparoscopic enucleation of the tumors with nephron-sparing surgery , 1 case of laparoscopic radical nephroureterectomy , and 1 case of retroperitoneal laparoscopic radical nephrectomy .All the patients were successfully followed up for 6 months to 132 months, 1 patient recurred 6 months after retroperitoneal laparoscopic cyst unroo-fing and underwent open partial nephrectomy .No recurrence and me-tastasis were found in the remaining patients . Conclusion Imaging examination is an important measurement for CN , and intraoperative frozen pathology contributes to pathological diagnosis .Since most CN cases are benign , CN patients with no symptom or small cysts can take follow up survey .The principle of the operation is complete resection of the tumor , and nephron-sparing surgery is the first choice . In addition , regular follow-up is necessary in case of recurrence and malignant potential .
3.A Chinese pedigree of familial encephalopathy with neuroserpin inclusions bodies
Shuai CHEN ; Shuang HE ; Mi PANG ; Wei LI ; Shujian LI ; Jiewen ZHANG
Chinese Journal of Neurology 2021;54(7):649-654
Objective:To report the clinical and genetic features of a pedigree with familial encephalopathy with neuroserpin inclusions bodies (FENIB) and to enhance the understanding of the disease.Methods:The proband was admitted to Department of Neurology, Henan Provincial People′s Hospital in June 2020 due to cognitive impairment and epilepsy. Detailed medical history inquiry, physical examinations, and neuroimaging examination of the family were conducted. The proband completed the examination of brain magnetic resonance imaging (MRI), electroencephalogram (EEG), cerebrospinal fluid examinations. Whole exome sequencing and Sanger sequencing were used to screen the genetic variations in the proband. Sanger sequencing was performed in some family members to verify the mutation. Through literature review, the characteristics of the disease were summarized.Results:The proband was a 23-year-old young female with progressive cognitive impairment, epilepsy as the main manifestations. Brain MRI indicated moderate atrophy of bilateral cerebral cortex. Genetic sequencing revealed a heterozygous missense mutation (c.1013A>G; p.H338R) of SERPINI1 gene encoding the neuroserine protease inhibitor protein. The proband′s mother and brother had similar clinical symptoms in adolescence. Both of them passed away several years later. This mutation was a proven pathogenic mutation for FENIB. The clinical phenotype was consistent within the family. Genotype and clinical phenotype were co-segregated.Conclusion:FENIB due to SERPINI1 gene mutations should be considered in young cases of cognitive decline, epilepsy and myoclonus.