ABSTRACT
<p><b>INTRODUCTION</b>An increasing number of targeted drugs have been tested for the treatment of nasopharyngeal carcinoma (NPC). However, targeted therapy-related oncogenic mutations have not been fully evaluated. This study aimed to detect targeted therapy-related oncogenic mutations in NPC and to determine which targeted therapy might be potentially effective in treating NPC.</p><p><b>METHODS</b>By using the SNaPshot assay, a rapid detection method, 19 mutation hotspots in 6 targeted therapy-related oncogenes were examined in 70 NPC patients. The associations between oncogenic mutations and clinicopathologic factors were analyzed.</p><p><b>RESULTS</b>Among 70 patients, 12 (17.1%) had mutations in 5 oncogenes: 7 (10.0%) had v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog (KIT) mutation, 2 (2.8%) had epidermal growth factor receptor (EGFR) mutation, 1 (1.4%) had phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha (PIK3CA) mutation, 1 (1.4%) had Kirsten rat sarcoma viral oncogene homolog (KRAS) mutation, and 1 (1.4%) had simultaneous EGFR and v-Raf murine sarcoma viral oncogene homolog B1 (BRAF) mutations. No significant differences were observed between oncogenic mutations and clinicopathologic characteristics. Additionally, these oncogenic mutations were not associated with tumor recurrence and metastasis.</p><p><b>CONCLUSIONS</b>Oncogenic mutations are present in NPC patients. The efficacy of targeted drugs on patients with the related oncogenic mutations requires further validation.</p>
Subject(s)
Humans , Carcinoma , Class I Phosphatidylinositol 3-Kinases , Mutation , Nasopharyngeal Neoplasms , Neoplasm Recurrence, Local , Oncogenes , Pharmacogenetics , Phosphatidylinositol 3-Kinases , Proto-Oncogene Proteins B-raf , ErbB ReceptorsABSTRACT
OBJECTIVE: To investigate the clinical value of remote fetal monitoring network in the antepartum management of gestational diabetes mellitus (GDM). METHODS: Non-stress test (NST) was preformed in 50 GDM cases by remote electronic fetal monitoring network (test group), and another 50 monitored by daily fetal movement counting and regular NST check-up in hospital served as the control group. Abnormal NST and perinatal outcome were compared between the two groups. RESULTS: The incidence of abnormal NST was significantly higher in the test group than in the control group (34.6% and 25.5%, P<0.05), as with Apgar scores of the neonates between the two groups (9.58+/-0.77 vs 8.70+/-1.23, P<0.01). The incidences of neonatal asphyxia (12.0%) and preterm birth (8.0%) in the test group were lower than those in the control group (24.0% and 22.0%, respectively, P<0.05). There was no significant difference in the rate of cesarean section between the two groups (P>0.05). CONCLUSION: Remote fetal monitoring network can be used to improve perinatal outcome of GDM, and offers a new option of self-monitoring means for pregnant women with GDM.
Subject(s)
Diabetes, Gestational/physiopathology , Fetal Monitoring/methods , Adult , Apgar Score , Asphyxia Neonatorum/epidemiology , China/epidemiology , Female , Humans , Incidence , Infant, Newborn , Obstetric Labor, Premature/epidemiology , Pregnancy , Pregnancy OutcomeABSTRACT
OBJECTIVE: To investigate the relationship between -344T polymorphism in aldosterone synthetase (CYP11B2) gene promoter region and the pathogenesis of polycystic ovary syndrome (PCOS). METHODS: Ninety two patients with PCOS and controls were genotyped according to the fragment length (273 bp and or 202 bp) of CYP11B2 gene promoter by the technique of polymerase chain reaction-restriction fragment length polymorphism. The levels of luteinizing hormone, follicular stimulating hormone, estrodiol, progesterone, prolactin, testosterone, plasma renin activity (PRA), plasma angiotensin II (PANG II) and aldosterone in the basal state were also determined. Different genotypes between PCOS were compared about their levels of PRA, PANG II, aldosterone and testosterone. RESULTS: (1) The C allele frequencies of CYP11B2 gene in control and PCOS was 22% and 36%, respectively. (2) The frequency of variants (TC, CC) of CYP11B2 gene -344T polymorphism site in PCOS (57%) was significantly higher than that of control subjects (37%). (3) The level of PRA, PANG II, aldosterone, testosterone were all significantly higher in the genotype of -344CC than in that of -344TT in PCOS and normal women (P < 0.01). CONCLUSIONS: (1) The variants (T-->C) of -344T polymorphism site of CYP11B2 gene predisposes increased risk of PCOS. (2) The genotype of -344CC, -344TC may be susceptible genotype of PCOS and has related to the enhanced functional activity of ovarian renin angiotensin system in PCOS.
