[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.

Inpatient rehabilitation therapy in stroke patients with reperfusion therapy: a national prospective registry study.

BACKGROUND: Little is known about the rate of real-world inpatient rehabilitation therapy (IRT) after stroke. We aimed to determine the rate of inpatient rehabilitation therapy and its associated factors in patients who undergo reperfusion therapy in China. METHODS: This national prospective registry study included hospitalized ischemic stroke patients aged 14-99 years with reperfusion therapy between January 1, 2019, and June 30, 2020, collecting hospital-level and patient-level demographic and clinical data. IRT included acupuncture or massage, physical therapy, occupational therapy, speech therapy, and others. The primary outcome was the rate of patients receiving IRT. RESULTS: We included 209,189 eligible patients from 2191 hospitals. The median age was 66 years, and 64.2% were men. Four in five patients received only thrombolysis, and the rest 19.2% underwent endovascular therapy. The overall rate of IRT was 58.2% (95% CI, 58.0-58.5%). Differences in demographic and clinical variables existed between patients with and without IRT. The rates of acupuncture or massage, physical therapy, occupational therapy, speech therapy, and other rehabilitation interventions were 38.0%, 28.8%, 11.8%, 14.4%, and 22.9%, respectively. The rates of single and multimodal interventions were 28.3% and 30.0%, respectively. A lower likelihood of receiving IRT was associated with being 14-50 or 76-99 years old, female, from Northeast China, from Class-C hospitals, receiving only thrombolysis, having severe stroke or severe deterioration, a short length of stay, Covid-19 pandemic and having intracranial or gastrointestinal hemorrhage. CONCLUSION: Among our patient population, the IRT rate was low with limited use of physical therapy, multimodal interventions, and rehabilitation centers and varied by demographic and clinical features. The implementation of IRT remains a challenge for stroke care, warranting urgent and effective national programs to enhance post-stroke rehabilitation and the adherence to guidelines.

Association between rehabilitation after reperfusion treatment and in-hospital mortality: Results from a national registry study.

Background: There is no effective regimen to reduce the mortality of patients treated with intravenous thrombolysis or endovascular therapy (EVT). Therefore, we aimed to examine whether sequential therapy by rehabilitation could effectively reduce the in-hospital mortality of patients treated with reperfusion therapy. Methods: This prospective registry study included patients with ischemic stroke who were treated by intravenous thrombolysis or endovascular therapy at Stroke Center Work Plan in China between 1 October 2018 and 31 July 2020. The patients were divided into 2 groups: those with (IRT+) or without (IRT-) inpatient rehabilitation therapy (IRT). The primary outcome was all-cause in-hospital mortality. We used Cox proportional hazards models and conducted a propensity score matching analysis to calculate hazard ratios (HRs) for mortality in the thrombolysis-only and EVT groups. Results: Of the 189,519 patients in the thrombolysis-only group, 35.7% were women, and the median (interquartile range, IQR) age, onset-to-needle time, and follow-up time were 66 (57-74) years, 165 (119-220) min, and 9 (5-12) days, respectively. Among the 45,211 patients in the EVT group, 35.9% were women, and the median (interquartile range, IQR) age, onset-to-puncture time, and follow-up time were 66 (56-74) years, 297 (205-420) min, and 11 (6-16) days, respectively. In the thrombolysis-only group with a median (IQR) initial National Institutes of Health Stroke Scale (NIHSS) score of 6 (3-11), 105,244 patients (55.5%) treated with IRT had significantly lower all-cause in-hospital mortality [0.6 vs. 2.3%; adjusted HR 0.18 (95% confidence interval (CI) 0.16-0.2)] than those without IRT. In the EVT group with a median (IQR) initial NIHSS score of 15 (10-20), 31,098 patients (68.8%) treated with IRT also had significantly lower all-cause in-hospital mortality [2 vs. 12.1%; adjusted HR, 0.13 (95% CI 0.12-0.15)]. IRT remained significantly associated with reduced in-hospital mortality in sensitivity, subgroup, and propensity score matching analyses among both the thrombolysis-only and EVT groups. Conclusion: Among the patients with ischemic stroke treated with intravenous thrombolysis or endovascular therapy, sequential therapy by rehabilitation was associated with lower all-cause in-hospital mortality. These findings suggest the necessity of promoting inpatient rehabilitation therapy after reperfusion in patients with ischemic stroke.

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.