Novel variant in CHRNA4 with benign childhood epilepsy with centrotemporal spikes and contribution to precise medicine.

BACKGROUND: Benign childhood epilepsy with centrotemporal spikes (BECTS) or benign rolandic epilepsy is the most common epileptic syndrome in school-age children. Genetics is an important factor in BECTS pathogenesis, and <10 genes were associated with BECTS. This study aimed to identify novel genetic causes of BECTS. METHODS: We conducted whole-exome sequencing on a patient with BECTS and validated the findings by Sanger sequencing in a pedigree with three patients. RESULTS: CHRNA4 c.1007G>A was identified in three patients with BECTS in a pedigree. Carbamazepine, which should be carefully used in BECTS, was observed to be effective in the treatment of our atypical BECTS proband based on the molecular diagnosis of CHRNA4. CONCLUSION: This is the first study on CHRNA4 variant in BECTS, which widened the genetic spectrum of BECTS and contributed to precise medicine in BECTS.

Development of Framework, Content and Standard of Disability Data Using ICF / 中国康复理论与实践

@#Objective To establish theoretical framework, content, and standard of disability data using International Classification of Functioning, Disability and Health (ICF). Methods The structure and content of the Disability Survey Project Form by Washington Group on Disability Statistics, World Health Organization Disability Assessment Schedule 2.0, Model Disability Survey developed by World Health Organization and ICF Core Set (General) were analyzed with ICF categories and coding. Results The sturcture and contents of disability measurements has been developed and analysed using ICF.Conclusion The framework, content and data standard had been developed.

Clinical utility of Liqui-PREP™ cytology system for primary cervical cancer screening in a large urban hospital setting in China.

BACKGROUND: Liquid based cytology (LBC) has been reported to increase the sensitivity of cervical cytology, in comparison with conventional cytology Pap smear (CPS). Most LBC systems though require expensive automated devices. AIMS: To evaluate the efficiency of a new and inexpensive LBC system - LPT cytology system. MATERIALS AND METHODS: Cervical screening was performed on 31500 patients utilizing the LPT cytology system test from January 2006 to May 2007. A similar number (n = 31500) of CPS were performed from January 2004 to July 2006. All cytology positive patients underwent colposcopy and cervical biopsy with histopathology examination. Fifty cases positive both on cytology and biopsy were submitted to the high-risk human papillomavirus (HPV) L1 protein (HR-HPV L1) tests. RESULTS: The LPT cytology system adequately preserved cellular structure for morphologic evaluation. There was a significant difference of the histology/cytology diagnosis concordant rate between that of the CPS and LPT systems [93.6 vs. 78.4%, p=0.001]. The significant higher concordant rate was also seen in the low grade intraepithelial lesion (LSIL) (95.4 vs. 78.9%, p=0.001) and in high grade intraepithelial lesion (HSIL) (90.2 vs. 76.1%, p=0.001) cytology diagnosis. There was no statistical difference in rate in atypical glandular cells (AGC) (61.5 vs. 60%) and glandular cell carcinoma (GCC) (83.3 vs. 80%). LPT resulted in a marked increased global detection over the CPS. Nuclear expression of HPV L1 was seen in 34% (17/50) of cases. CONCLUSIONS: LPT showed an increase in detection rate compared to CPS (P = 0.001) and a significantly higher histological versus cytological concordant referral rate.