Mutations in CFI, mapped to 4q25 and encoding complement factor Ⅰ, are responsible for autosomal recessive atypical hemolytic uremic syndrome aHUS). Complement factor Ⅰ, a serine proteinase, plays a key role in inhibition of the amplification loop in alternative pathway. Most of mutations in the CFI gene identified in patients with aHUS are point mutations without large deletion ones. The patients with aHUS with CFI mutations, from 2 months to 32 years of age at disease onset, have a poor outcome. Approximate 70% of the patients have low levels of complement 3, and 69.6% of the cases progress to end-stage renal disease within 3 years. The risk of post-transplantation recurrences in the CFI-mutated patients is high.Therefore,detection of the CFI gene in the patients suffering from aHUS will be beneficial to making therapeutic decisions and predicting prognoses.

Objective: To explore the clinical features, diagnosis, treatment and the prognosis of Farber disease by case report and literature review. Method: The clinical information of a case with farber′s disease diagnosed in October 2015 at Peking University First Hospital was collected and analyzed, including clinical manifestation, electrophysiology, magnetic resonance imaging, pathology, treatments and prognosis.ASAH1 gene mutational analysis was conducted in the patient and her parents.By using "Farber′s disease, ASAH1" as keywords, literature was searched from Pubmed, CHKD and HGMD database from January 1951 to January 2016. Result: The girl, 2 years 2 months old, was sent to our hospital in October 2015, with complains of "joint swelling for 17 months, development regress of intelligence and movement for 11 months, intermittent seizures for 2 months" .The clinical manifestation of the patient was characterized by painful and deformed joints, subcutaneous nodules, progressive hoarseness, and the progressive neurological system deterioration.Joints swelling and deformity behave as the first symptoms.A series of electroencephalogram showed slow background and spike wave.Visual evoked potential was significantly abnormal.Brain magnetic resonance imaging (MRI) showed hypomyelination and progressive diffuse brain atrophy.Histology of subcutaneous nodule showed proliferation of the connective tissue with hyalinization, cholesterol crystal like changes, and a large number of foamy cell infiltration.Compound heterozygous mutations of ASAH1 gene, c. 304_305 ins A (p.T102Nfs14) and c. 314T>C (p.L105p), were found in the patient, and the former is inherited from her mother, the latter from her father.Antiepileptic treatment and other symptomatic treatments were delivered to the patient, but the effectiveness was poor.One reference from China hownet and 35 references from Pubmed have reported a total of 26 cases.Twenty out of 26 patients (77%) had the onset under 1 year of age.By region, there were 12 patients (12/26, 46%) from India, and the others around world.Among these 12 indian patients, 10 lack of complete clinical data.Among the rest 16 patients, 4 patients′ parents were consanguineous; 8 patients with the main clinical manifestation of painful and deformed joints, subcutaneous nodules, and hoarse cry; 4 patients with hepatic failure and impaired spleen; 5 patients with rapid neurological deterioration; 1 patient with bone destruction; 7 patients under liver and skin biopsies, pathologically showing a large number of foam cells and "Farber bodies" . There are 33 genetic mutations, and 45% (15/33) mutations are concentrated in ASAH1 exon 6-10. Conclusion Farber disease is a rare autosomal recessive disease caused by deficiency of lysosomal acid ceramidase.Histopathology of granulomatous tissue plays an important role in the early diagnosis.

Objective To investigate the expression and clinical significance of miR-126 and vascular endothelial growth factor (VEGF) in proliferative diabetic retinopathy (PDR).Methods 226 cases of diabetic retinopathy (DR) patients admitted in our hospital were studied,including 110 cases of PDR (group PDR),116 non proliferative diabetic retinopathy (NPDR) (group NPDR).80 patients with diabetes mellitus without retinopathy (NDR) were enrolled in DR group at the same period,another 80 healthy subjects (control group) were selected as control group.The plasma miR-126 level of all subjects was detected by real-time fluorescence quantitative polymerase chain reaction (qRT-PCR).The enzyme linked immunosorbent assay (ELISA) method was used to detect plasma VEGF level.The clinical diagnostic value of miR-126 and VEGF in PDR patients was further analyzed.Results Plasma levels of miR-126 in PDR group,NPDR group and NDR group were lower than those in control group (P ＜ 0.05),PDR group was lower than NPDR group and NDR group (P ＜ 0.05);plasma levels of VEGF in PDR group,NPDR group and NDR group were higher than those in control group (P ＜ 0.05),PDR group was higher than NPDR group and NDR group (P ＜ 0.05).Total cholesterol (TC),triglyceride (TG) and glycated hemoglobin (HbAlc) in PDR group were higher than those in NPDR group and NDR group (P ＜0.05),low density lipoprotein cholesterol (LDL-C) in PDR group,NPDR group and NDR group were higher than those in control group (P ＜ 0.05),and LDL-C in PDR group was higher than that in NPDR group and NDR group (P ＜0.05).High density lipoprotein cholesterol (HDL-C) in PDR group and NDR group was lower than that in control group (P ＜ 0.05),C-reactive protein (CRP) in PDR group,NPDR group and NDR group was higher than that in control group (P ＜ 0.05);plasma miR-126 levels in PDR group were negatively correlated with TC,LDL-C,CRP and HbA1c (P ＜ 0.05),but positively correlated with HDL-C (P ＜ 0.05),and no correlation with TG;the plasma levels of VEGF in PDR patients were positively correlated with TC,TG,LDL-C,CRP and HbAlc (P ＜0.05),but negatively correlated with the expressions of miR126 (r =-0.573,P =0.000);the AUC of miR-126 was 0.861,and when the cut-off value was ＜0.64,the diagnostic sensitivity and specificity were 82.50％,83.64％;the area under curve (AUC) of VEGF was 0.889,and when the cut-off value was ＜ 7.000,the sensitivity and specificity of diagnosis were 82.73％,86.25％;0.847 for the AUC of HbA1c,and the sensitivity and specificity 81.82％,87.50％ respectively.Conclusions Plasma miR-126 is low-expressed and VEGF is high-expressed in PDR patients,there is a negative correlation between the two indexes.They may be involved in the course of PDR through abnormal lipid metabolism and inflammatory reaction and may be a potential biomarker for early diagnosis of PDR.

Objective To isolate and identify 3 flavonoids (taxifolin, orobol and quercetin) from Cudrania tricuspidata, and develop a method for determining 3 flavonoid constituents in Cudrania tricuspidata. Methods Three flavonoids was isolated from ethanol extract of Cudrania tricuspidata by chromatography, and its structure was identified by nuclear magnetic resonance. The analysis was conducted on an Aglient C18 column (4.6 mm ×250 mm, 5 μm) eluted with 1％ acetic acid and methanol as mobile phases in gradient mode. The flow rate was 1 ml/min and the detection wavelength was set at 310 nm. The column temperature was 25 ℃. Results Taxifolin, orobol and quercetin were isolated from ethanol extract of Cudrania tricuspidata by chromatography. The content of taxifolin, orobol and quercetin were 0.850 mg/g, 0.518 mg/g, 0.103 mg/g. Conclusion The method can be used for the quality control of Cudrania tricuspidata as a reference.

Abstract Allergic diseases can occur in all systems of the body, covering the whole life cycle, from children to adults and to old age, can be lifelong onset and even fatal in severe cases. Children account for the largest proportion of the victims of allergic disease, Children s allergies start from scratch, ranging from mild to severe, from less to more, from single to multiple systems and systemic performance, so the prevention and treatment of allergic diseases in children is of great importance, which can not only prevent high risk allergic conditions from developing into allergic diseases, but also further block the process of allergy. At present, there is no consensus on the management system of allergic children in kindergartens and primary schools. The "Consensus on Allergy Management and Prevention in Kindergartens and Primary Schools", which includes the organizational structure, system construction and management of allergic children, provides evidence informed recommendations for the long term comprehensive management of allergic children in kindergartens and primary schools, and provides a basis for the establishment of the prevention system for allergic children.

OBJECTIVE： To study therapeutic effects of Spider toxin oral ulcer powder on recurrent aphthous ulcer （RAU） model rats and its mechanism. METHODS： In vitro antimicrobial activity of the powder was determined by disk diffusion method. 50 healthy SD rats were randomly divided into normal group， model group， positive group （Guilin watermelon frost， 100 mg/kg） and oral ulcer powder high-dose and low-dose groups （70， 35 mg/kg）， with 10 rats in each group. Except for normal group， RAU model was established in the right oral submucosa of rats in other groups by acetic acid method. After modeling， administration groups were smeared with corresponding drugs on ulcers for 3 days. Normal group and model group were not treated. The ulcer surface of rats was observed and the ulcer area was measured on the 1st and 3rd days after administration. The morphological changes of ulcer tissues were observed. The serum levels of SOD， MDA， GSH， TNF-α， IL-1， IL-6 and IFN-γ were detected. The protein expressions of MMP-9， NF-κB， Caspase-3 and PARP in ulcer tissues of rats were detected by immunohistochemistry. RESULTS： The oral ulcer powder showed obvious in vitro bacteriostasis effect. Compared with blank group， oral ulcer and histopathological changes were obvious in model group； serum levels of TNF-α， IL-1， IL-6 and MDA were increased significantly， while the levels of IFN-γ， SOD and GSH were decreased significantly （P＜0.01）； the expression of MMP-9， NF-κB， Caspase-3 and PARP in ulcer tissue were increased significantly （P＜0.05 or P＜0.01）. Compared with model group， the ulcer area of rats in each dosage group was significantly reduced （P＜0.05 or P＜0.01） or nearly healed， the pathological changes of  tissue were significantly alleviated； serum levels of MDA， TNF-α， IL-1 and IL-6 were decreased significantly， while the levels of SOD， GSH and IFN-γ were increased significantly （P＜0.05 or P＜0.01）； the expression of MMP-9， NF-κB， Caspase-3 and PARP in ulcer tissue were decreased significantly （P＜0.01）. CONCLUSIONS： Spider toxin oral ulcer powder shows strong bacteriostasis， detumescence and repair effects， and has obvious therapeutic effect on RAU model rats. Its mechanism may be related to reducing the level of inflammatory factors， mediating the expression of apoptotic factors and regulating immune imbalance.

End-stage renal disease (ESRD) patients undergoing outpatient hemodialysis (HD) and home peritoneal dialysis (PD) are high risk population of severe and critical types caused by SARS-CoV-2 infection. In order to improve the quality of diagnosis and treatment in dialysis patients with SARS-CoV-2 infection, we wrote this recommendation for primary care clinicians. During the epidemic period of SARS-CoV-2 infection, all patients should be instructed to strengthen self-management. Once the SARS-CoV-2 infection was found in dialysis patients, early stratified management should be carried out within 72 hours after the first positive nucleic acid or antigen test results, which includes early antiviral therapy, early recognition, and transferring severe patients from community or primary hospital to a referral hospital promptly. Guidance for dietary and sports rehabilitation after SARS-CoV-2 infection should also be started as soon as possible.