Objective To detect gene mutations in a family of congenital atrichia with papular lesions (APL). Methods Polymerase chain reaction and DNA sequencing were used to search for mutations in the HR gene (a causative gene of APL), the CJB6 gene, and the CDSN gene. Results No mutation was found in these three genes except for single nucleotide polymorphisms (SNPs) in the HR and CDSN genes. Conclusion No mutation is identified in the HR, CJB6 or CDSN gene in this family affected by congenital APL.

Objective To investigate the characteristics of auditory P300 amplitude and latency and cognition in patients with clinical high-risk of psychosis (CHR). Method Thirty six CHR (study group) and thirty five healthy con?trols (control group) were included. Oddball paradigm and MATRICS Consensus Cognitive Battery (MCCB) were used to record auditory P300 and to evaluate the cognition, respectively. The structured interview for psychosis-risk syndromes (SIPS) was used to evaluate the clinic symptoms of patients. Result The cognition of CHR was significantly lower than healthy controls in information processing, attention/vigilance, working memory, verbal learning, visual learning, reason?ing and problem solving and social cognition (P<0.01). The study group showed decreased amplitude in Fz, Cz and Pz and delayed latency in Pz (P<0.05). P300 latency of CHR in Fz positively correlated with positive score of SOPS (r=0.544, P=0.001), while P300 amplitude positively correlated with verbal fluency (r=0.339,P=0.043). Conclusion Cogni?tion and P300 is abnormal in CHR. The correlation between P300 and clinical symptoms, cognitive dysfunction reminds that we should put more attention on the role of P300 in CHR subjects.

Objective To develop an indicator system for the ability of main caregivers of premature in Neonatal Intensive Care Unit (NICU). Methods Delphi method was used to design index system and 16 experts were invited to participate the study. The questionnaire was consulted by emails and we took two rounds of consultation. Results The two rounds of consulting experts enthusiasm coefficients was 100% and the overall authority coefficients was 0.813 and 0.819. In the evaluation index system, there were 8 first grade indexes and 42 second grade indexes, including 11 items of basic care ability , 6 items of feeding and nutrition, 5 items of early itervention, 8 items of common symptoms and sign, 1 item of emergency, 5 items of safety prevention, 4 items of special care and 2 items of parentage. Conclusions The ability of main caregivers of premature in NICU evaluation index system which is designed using Delphi method is scientific and reliable. The results would have important significance to evaluate the level of main caregivers of premature in NICU.