1.Clinical analysis of neuroblastoma in 36 children
Jian GAO ; Mingxin XUE ; Xinqin TIE ; Shu?eng ZHANG ; Xiaohui WANG ; Juntao BAO ; Cong XING
Chinese Journal of Applied Clinical Pediatrics 2019;34(6):453-456
Objective To explore the diagnosis,treatment and prognosis of neuroblastoma in children. Methods The clinical data of 36 children With neuroblastoma admitted to Department of Pediatric Surgery,Henan Pro﹣vincial People's Hospital betWeen August 2013 and August 2018,Were retrospectively analyzed. The patients included 22 males and 14 females With the age of 1 month-13 years old[( 20. 0 ± 18. 5)months]. TWenty-one cases of neu﹣roblastoma originated from the adrenal glands,the other 15 cases from the sympathetic ganglion( including 7 cases in retroperitoneum,6 cases in postmediastinum,and 2 cases in neck). Fifteen patients in loW risk and intermediate risk groups underWent primary surgery before multiple chemotherapy,While other 21 cases in high risk groups underWent chemotherapy until the mass could be removed completely,then continuely underWent multiple chemotherapy. Results Of the 36 patients,23 cases(63. 9%)had a radical resection,13 patients underWent palliative resection and 2 pa﹣tients Were treated With vascular repair during surgery(abdominal aorta in 1 patient,inferior vena cava in 1 patient). TWenty-seven patients had effective in formation and 16 patients survived,during folloW-up,12 patients belonged to stage Ⅰ-Ⅲ disease,2 patients stage Ⅳ disease and 2 patients stage Ⅳs disease,respectively. Four cases underWent re-operation due to disease recurrence,then they underWent chemothearopy,and 3 patients Were survival With tumor. Conclusions Neuroblastoma is a highly malignant pediatric cancer accompanied With a high rate of metastasis on ini﹣tial diagnosis. Radical resection is an effective therapeutic strategy for improving the survival rate. If radical resection is impractical,palliative resection combined With chemotherapy can significantly prolong patients' survival time. And a better prognosis is achieved if it can be early diagnosed and treated timely.
2.Molecular genetic analysis of mitochondrial DNA C1494T mutation in non-syndromic hearing loss of Chinese population.
Gu TIAN ; Yu-he LIU ; Yi-nan MA ; Yu-jie LI ; Ying ZHANG ; Shu-lan NIU ; Yuf-eng XU ; Pei PEI ; Song-tao WANG ; Ding-fang BU ; Bo-ran DU ; Xiang ZHOU ; Xiao-mei KE ; Yu QI
Chinese Journal of Medical Genetics 2007;24(4):464-466
OBJECTIVETo conduct a molecular epidemiological survey on the mitochondrial DNA C1494T mutation in non-syndromic hearing loss patients in Chinese population.
METHODSPolymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) were used to screen the mitochondrial DNA 12S rRNA C1494T mutation in 20 patients with aminoglycoside antibiotic induced hearing loss, 136 sporadic non-syndromic hearing loss patients and 50 probands of pedigrees with non-syndromic hearing loss.
RESULTSThe C1494T mutation did not appear in all cases except for the positive control.
CONCLUSIONIncidence of mitochondrial DNA C1494T mutation is much lower than that of mitochondrial DNA A1555G mutation in non-syndromic hearing loss of Chinese population. Mitochondrial DNA C1494T mutation may be a rare variation in non-syndromic hearing loss and is not the main cause of aminoglycoside antibiotic induced-deafness.
Adolescent ; Aminoglycosides ; adverse effects ; Anti-Bacterial Agents ; adverse effects ; Asian Continental Ancestry Group ; genetics ; Child ; China ; DNA, Mitochondrial ; genetics ; Female ; Hearing Loss ; chemically induced ; ethnology ; genetics ; Humans ; Male ; Point Mutation ; Polymerase Chain Reaction ; Polymorphism, Restriction Fragment Length ; RNA, Ribosomal ; genetics