Objective To analyze the variations of PTPS gene in patients with suspected 6-pyruvoyl-tetra hydropterin synthase deficiency (PTPSD) and to make prenatal diagnosis in high-risk families. Methods Chemiluminescence was used for phenylalanine detection in blood or dried blood spots.Patients with phenylalanine concentration over 120μmol/L were detected by urine pterin analysis, and the activity of dihydropteridine reductase (DHPR) was detected. tetrahydrobiopterin loading tests were performed in suspected patients with abnormal urinary pterin profiles. PTPS gene variation analysis was performed by direct Sanger sequencing based on PCR amplification. Prenatal diagnosis in 7 high-risk families was performed by chorionic villus sampling when the genotype was identified. Results In 656 patients with hyperphenylalanine, 22 cases were diagnosed as PTPSD clinically. 16 variations were detected in the 22 PTPSD cases. The 5 variations, p.Lys77Arg, p.Ile84Phe, c.315-2A>G, c.244-2A>T, c.187-1G>T, were identified as novel variations. Two fetuses carried the same mutation with the proband and therefore were thought to be PTPSD fetuses. Three fetuses carried only one mutant allele and thus were thought to be PTPSD carriers.

Objective To investigate the influencing factors of the cognitive deficits in schizophrenic patients with diabetes.Methods 578 inpatients with schizophrenia and 400 healthy adults were collected.578 schizophrenic patients were divided into schizophrenia group with type 2 diabetes (combined group,n=277) and schizophrenia without type 2 diabetes (single disease group,n=301).The cognitive function of all subjects were examined by the Repeatable Battery for the Assessment of Neuropsychological Status (RBANS).The clinical symptoms of patients with schizophrenia were measured with the Positive and Negative Syndrome Scale (PANSS).Fasting glucose,lipids,hemoglobin A1c (HbA1c) and insulin levels were measured.Results The total score and factor scores of RBANS in the combined group were lower than those in the healthy control group (total score (70.51 ± 14.43) vs (80.04 ± 15.14),immediate memory (62.65 ± 16.81) vs (75.66± 17.33),visual span(83.60±20.81) vs (87.61 ± 15.61),verbal function(85.58± 14.64) vs (93.88± 13.10),attention function (73.66± 17.52) vs (87.42±20.37),delayed memory(75.27± 17.80) vs (86.27± 15.27),all P＜0.05).The total score of RBANS,immediate memory and attention function factor were lower in the combined group than that in the single disease group ((70.51±14.43) vs (75.02±15.25),(62.65±16.81) vs (67.37±19.12),(73.66±17.52) vs (84.17±15.22),all P＜0.05).Multiple linear stepwise regression analysis showed that education,negative symptoms,positive symptoms,BMI,HbAc 1,course of disease and antipsychotic type were the influencing factors of cognitive impairment in schizophrenic patients with diabetes.Conclusion The cognitive impairment of schizophrenic patients with diabetes is more serious and affected by many factors.Targeted early intervention can help reduce cognitive impairment.

Objective:To study the correlation between transcutaneous bilirubin (TcB) level measured from shielded skin and total serum bilirubin (TSB) level after phototherapy in premature infants.Methods:From July 2019 to July 2021,preterm infants with jaundice admitted to the Department of Neonatology of our hospital and received phototherapy were prospectively enrolled in the study. The infants were assigned into 26~31w group, 32~34w group and 35~36w group according to their gestational ages. During phototherapy, the forehead, the chest and the perineum were shielded. TcBs were measured at the above mentioned areas three times each before and after phototherapy and TSB was measured from venous blood samples.Results:A total of 306 premature infants were included, with 51 cases in 26~31w group, 126 cases in 32~34w group and 129 cases in 35~36w group. Before phototherapy, TcBs of the forehead, the chest and the perineum of all infants were correlated with TSB ( r=0.699, 0.913, 0.734, P<0.001) with TcB of the chest showed the best correlation. A linear regression equation was established using the TSB before phototherapy and the TcB of the chest: TSB=0.634+0.912TcB. After phototherapy, TcBs of the forehead, the chest and the perineum of all infants were also correlated with TSB ( r=0.586, 0.879, 0.690, P<0.001) with TcB of the chest showed the best correlation and the linear regression equation was TSB=1.910+0.736TcB. Conclusions:For preterm infants with gestational age of 26~36w, TcB of the shielded chest skin after phototherapy is correlated with TSB and a linear regression model can be established.