[Glycosylphosphatidylinositol biosynthesis deficiency 15 caused by GPAA1 gene mutation: a rare disease study]. / ç½•è§ç— ç ”ç©¶ï¼šGPAA1åŸºå› çªå˜å¯¼è‡´ç³–åŸºç£·è„‚é °è‚Œé†‡ç”Ÿç‰©åˆæˆç¼ºé™·15型.

A boy, aged 6 years, attended the hospital due to global developmental delay for 6 years and recurrent fever and convulsions for 5 years. The boy was found to have delayed mental and motor development at the age of 3 months and experienced recurrent fever and convulsions since the age of 1 year, with intermittent canker sores and purulent tonsillitis. During the fever period, blood tests showed elevated white blood cell count, C-reactive protein, and erythrocyte sedimentation rate, which returned to normal after the fever subsides. Electroencephalography showed epilepsy, and genetic testing showed compound heterozygous mutations in the GPAA1 gene. The boy was finally diagnosed with glycosylphosphatidylinositol biosynthesis deficiency 15 (GPIBD15) and periodic fever. The patient did not respond well to antiepileptic treatment, but showed successful fever control with glucocorticoid therapy. This article reports the first case of GPIBD15 caused by GPAA1 gene mutation in China and summarizes the genetic features, clinical features, diagnosis, and treatment of this disease, which provides a reference for the early diagnosis and treatment of GPIBD15.

Association between intention to call EMS in stroke patients and level of hospital classification and emergency medical service usage among stroke patients in China.

INTRODUCTION: Different categories of hospitals in China have varying levels of patient education. Stroke recognition and emergency medical services (EMS) usage in patients appears to be closely associated with patient education in hospital. This study aimed to explore the effect of hospital classification in China on a patient's ability to recognise stroke symptoms and the likelihood of using the EMS. MATERIAL AND METHODS: A cross-sectional, community-based study was conducted from January to May 2017, and 1,426 residents who had previously been hospitalised were analysed. The patients involved in the study were from 69 administrative areas in China. Multivariable logistic regression models were developed separately for primary, secondary, and tertiary hospitals to identify the associations between hospital grades and patient stroke recognition or the prospects of them using the EMS. RESULTS: Among the 1,426 patients studied, 725 had been admitted to tertiary hospitals, 448 to secondary hospitals, and 253 to primary hospitals. According to univariate analysis, tertiary hospital patients were more likely to use the EMS than patients in primary and secondary hospitals. The difference therein was still significant after full adjustment. CONCLUSIONS: Patients in tertiary hospitals were significantly more likely to use the EMS promptly compared to patients in primary or secondary hospitals. Therefore, patient education on timely EMS usage at stroke onset should be enhanced in primary and secondary hospitals in China.

[Ecological engineering experiment for Jinshan Lake in Zhenjiang base on techniques of immobilized nitrogen cycling bacteria].

Nitrogen cycling bacteria, including ammonifying, nitrobacteria, nitrosobacteria and denitrifying bacteria were screened, carrier was made and immobilized nitrogen cycling bacteria (INCB) was prepared. The results demonstrated that ammonifying, nitrobacteria, nitrosobacteria and denitrifying bacteria were increased markedly in the experimental areas and root zone of aquatic plants by releasing of INCB. The results also showed that the average removal efficiencies for total N (TN), NH4(+) -N, NO3(-) -N and NO2(-) -N were 44.70%, 67.17%, 31.79% and 74.21%, respectively. Furthermore, NH4(+) -N, total N (TN) reached the National Standard II and IV for surface water, respectively. With INCB, local lake water quality could improve. Therefore, the technique of INCB could play an important role for remedying and rehabilitating in desertification water.