SUMMARY We described 1 case of autoimmune lymphoproliferative syndrome ( ALPS) , first diagnosed in our hospital, and reviewed the recent literature. The 11-month old male patient presented with a histo-ry of splenomegaly and hepatomegaly since 1 month after birth. He suffered recurrent infectious diseases including cytomegalovirus infection, parvovirus B19 infection and chronic diarrhea disease. Besides, his symptoms included hemolytic anemia and thrombocytopenia. The laboratory abnormality indicated an ex-panded population of alpha/beta double-negative T cells (DNTs) (27. 18% of lymphocytes, 35. 16% of CD3 + T lymphocytes) in peripheral blood, and autoantibodies including antinuclear antibody, double-stranded DNA and rheumatic factor were positive. Hyper gamma globulinemia and positive direct Coombs tests were seen in the patient. His parents were both healthy and denied autoimmune diseases. We iden-tified a heterozygous point mutation in exon 3 of the FAS gene carrying c. 309 A>C, resulting in a single base pair substitution in exon 3 of FAS gene which changed the codon of Arg103 to Ser103 . Unfortunate-ly, we were unable to obtain the gene results of the child' s parents. The patient was treated with glu-cocorticoids in our hospital and with mycophenolatemofetil in other hospital. And we were informed that his anemia condition relieved through the telephone follow-up, but he still suffered recurrent infections, hepatomegaly and splenomegaly still existed. As we all know ALPS is characterized by defective lympho-cyte apoptosis, and thus cause lymphoproliferative disease and autoimmune disease, and increase the risk of lymphoma. It is more likely to be misdiagnosed as other diseases. ALPS should be suspected in the case of chronic lymphadenopathy, splenomegaly and autoimmune features. Flow cytometry approach is helpful for the diagnosis. Immunosuppressive drugs are the necessary treatment.

Objective China is experiencing increasing disease burden and economic burden of acute myocardial infarction(AMI),while the healthcare resources are limited and unevenly distributed.Hospitalization duration is an important measure of health resource utilization index.This study aims to describe the time trend of Length of stay(LOS) for AMI inpatient care in eastern urban areas of China,and to identify potential hospital-level factors associated with the LOS,which is an important indicator of resource utilization.Methods The study randomly selected a representative sample of patients admitted for AMI in 2001,2006 and 2011,from urban hospitals in eastern China.After central data abstraction from medical records,patients' characteristics,treatments and outcomes were compared between 3 hospital groups that were divided according to their median of LOS.Results Five thousand and forty-seven AMI cases were included in the analyses.The average LOS were (15.3±10.2),(13.5±8.7) and (12.2±7.8) d in 2001,2006 and 2011 respectively,with a decreasing trend(F=10.93,P<0.001).After adjusted for patients' characteristics,there were no significant different in LOS between years.Patients' characteristics were similar between high-,middle-and low-LOS hospitals,however,in high-LOS hospitals,use rates of aspirin,clopidogrel and statins were even lower(P≤0.001).LOS were longer 1.9 d in the hospitals with relatively small AMI inpatient treatment volumes(30-80 annually,t=2.97,P<0.01).Conclusions The average LOS for AMI in eastern urban areas of China is much longer than in western countries.Conclusion between hospitals have highlighted the gaps in care quality and efficiency.Standardized clinical pathways and hierarchical medical system are essential strategies in the new healthcare reform.

Objective To investigate the clinical effect of improved portable mirabilite bag by abdominal application in the treatment of severe acute pancreatitis. Methods A total of 50 patients with severe acute pancreatitis admitted to our hospital from May2015 to January 2016 were enrolled as the control group, which was treated with traditional self-made towel bag filled with mirabilite for the abdominal application. Another 50 patients with severe acute pancreas hospitalized in our hospital from February 2016 to April 201750 patients as the experimental group, which was treated with improved portable mirabilite bag by abdominal application. The two groups were compared in terms of contamination by clothing, shedding, dislocation, aggregation, abdominal pain, bloating, and recovery time of gastrointestinal function. Results The incidences of shedding and displacement of mirabilite bag, mirabilite accumulation and contamination in the experimental group were lower than those of the control group. The abdominal distension time and bowel sound recovery time were significantly shorter than that in the control group (P ＜0.05, P ＜0.001). Conclusions By the improved portable mirabilite bag, the mirabilite can be evenly applied to the external abdomen of the patients. It is simple to make the bag and convenient for the clinical use, worthy of clinical application.

Objective To investigate the dosimetric difference between inverse planning simulated annealing(IPSA)and manual optimized plan for isodose line in interstitial brachytherapy for locally advanced cervical cancer and to provide a better optimization method for clinical application. Methods A total of 104 patients with cervical cancer were enrolled in this study. They received pelvic external beam radiotherapy and interstitial brachytherapy in five fractions. Both IPSA and manual optimized plan for isodose line were used to optimize the dose in each fraction. Dose volume parameters of the two plans were compared to analyze the dosimetric outcome by paired t-test. Results There were no significant differences in mean D 90and D 100for high-risk clinical target volume(HR-CTV)and D 90for intermediate-risk clinical target volume(IR-CTV)between the two groups(P>0.05). The IPSA group had a significantly higher D 100for IR-CTV than the manual optimized group(58.36±2.06 Gy vs. 53.99±2.17 Gy, P=0.025). For organs at risk,the IPSA group had a significantly lower mean rectum D 2ccand a significantly higher bladder D 2ccthan the manual optimized group(68.53± 2.85 Gy vs. 71.77± 1.79 Gy, P=0.002;80.49± 3.36 Gy vs. 78.71± 2.64 Gy,P=0.034). There was no significant difference in sigmoid D 2ccbetween the two groups(P>0.05). The IPSA group had significantly higher relative dose homogeneity index(HI)and conformity index (CI)of radiation dose for target volume than the manual optimized group(P<0.05), and there was no significant difference in overdose volume index(OI)between the two groups(P= 0. 1 0 7).Conclusions Compared with manual optimized plan for isodose line, IPSA can improve the dose distribution of tumor tissue,reduce mean rectum D 2cc,and increase CI and HI,so it is a preferable optimized treatment planning method in clinical application.

Objectives: This study explored the relationship between weight control and atrial fibrillation (AF) recurrence after catheter ablation in overweight and obese patients. Methods: We prospectively enrolled consecutive 333 overweight and obese patients aged 28 to 87 years old, who underwent catheter ablation for AF in Beijing Anzhen Hospital between October 2015 and February 2016. Data of patients′ characteristics, laboratory examination and treatment were collected at baseline. Each patient was followed up at 3, 6 and 12 months after ablation to collect information on weight, AF recurrence, stroke, major bleeding, hospitalization for cardiovascular reasons and death, etc. Patients were divided into weight controlled group (ΔBMI<-1 kg/m²) and weight uncontrolled group (ΔBMI≥-1 kg/m²), according to the changes in the most recent exposure BMI before AF recurrence in patients with recurrence or the BMI at 12 months′ follow-up in patients without recurrence and the BMI at baseline. Multivariate logistic regression was performed to adjust other known risk factors of AF recurrence and to explore the association between weight control and AF recurrence after catheter ablation. Results: There were 54 patients in weight controlled group and 279 patients in weight uncontrolled group. There were no significant differences in age, gender, education level, left atrial size and history of hypertension between the two groups (all P>0.05). The proportion of patients using angiotensin-converting enzyme inhibitors/angiotensin receptor blockers was higher in the weight controlled group (50.0%(27/54) vs. 34.8%(97/279), P=0.034). However, there was no significant difference in the proportion of patients with obesity (33.3% (18/54) vs. 29.7% (83/279)), paroxysmal AF (59.3% (32/54) vs. 56.6% (158/279)) and AF duration less than 5 years (76.9% (40/52) vs. 65.4% (178/272)) between the weight controlled group and the uncontrolled group. During 1-year follow-up after ablation, the recurrence rate of AF was significantly lower in the weight controlled group than that in the weight uncontrolled group (14.8% (8/54) vs. 32.6%(91/279), P=0.009). Multivariable logistic regression analysis shows that weight control is independently associated with a lower postoperative AF recurrence rate (OR=0.40, 95%CI 0.18-0.90, P=0.026). Conclusion Weight control is strongly associated with a lower AF recurrence rate after catheter ablation in overweight and obese patients.

Fragile X syndrome(FXS)is caused by abnormal duplication and amplification of the FMR1 gene CGG.This article reports a pair of brothers diagnosed with FXS by genetic testing.Two patients,aged 15 and 14 years old respectively,both had clinical manifestations such as language disorders,intellectual disabilities,attention deficit disorder,autism spectrum disorder,and FXS's characteristic facial features.The proband had a rare late-onset epileptic seizure,which was well treated with levetiracetam,while his younger brother had no electroencephalogram abnormalities after repeated follow-up.This pair of cases suggests that the clinical phenotype of FXS has diversity and heterogeneity.

This paper reports investigations into the preparation and characterization of surface molecularly imprinted nanoparticles (SMINs) designed to adhere to Helicobacter pylori (H. pylori). Imprinted nanoparticles were prepared by the inverse microemulsion polymerization method. A fraction of Lpp20, an outer membrane protein of H. pylori known as NQA, was chosen as template and modified with myristic acid to facilitate its localization on the surface of the nanoparticles. The interaction between these SMINs with the template NQA were evaluated using surface plasmon resonance (SPR), change in zeta potential and fluorescence polarization (FP). The results were highly consistent in demonstrating a preferential recognition of the template NQA for SMINs compared with the control nanoparticles. In vitro experiments also indicate that such SMINs are able to adhere to H. pylori and may be useful for H. pylori eradication.

Enzyme-Linked Immunosorbent Assay ; methods ; Humans ; Parkinson Disease ; cerebrospinal fluid ; diagnosis ; alpha-Synuclein ; cerebrospinal fluid

【Objective】 To assess the prevalence and treatment of high cardiovascular disease （CVD） risk， and identify individual characteristics related to high CVD risk. 【Methods】 Based on the data of the China Patient-Centered Evaluative Assessment of Cardiac Events （PEACE） Million Persons Project （MPP） from 2016 to 2019， this study enrolled local residents aged 35 to 75 years from 39 counties or districts in Northwest China. Rates of high CVD risk and individual characteristics were assessed in the overall study population. Statin and aspirin use was also evaluated among those at high risk for CVD. Multivariable mixed models were fitted to evaluate the relationship between individual characteristics and high CVD risk. 【Results】 Among 364 537 participants， the average age was （54.6±9.7）years， and 5.8% was at a high risk for CVD. Multivariate mixed models showed that individuals who were currently using alcohol， overweight or obese tended to have a high risk for CVD， while married persons， those with a higher education level or a higher household income were correlated with a lower risk for CVD （all P<0.05）. Among high-risk persons， hypertension was the most prevalent risk factor （98.1%）， and only 1.3% and 3.5% reported their use of statins and aspirin， respectively. 【Conclusion】 Of the 364 537 participants， about 1 in 17 had a high risk for CVD. Among those at a high CVD risk， only less than 4% reported taking statins or aspirin. These findings indicate that there is still much room for risk mitigation in this population in China.