0.05)in healthy volunteers.

Objective:To summarize the characteristics of genetic variation and prenatal diagnosis in pedigrees with X-linked adrenoleukodystrophy (X-ALD) and elucidate the value of prenatal diagnosis in preventing the birth of children with X-ALD.Methods:Twenty pedigrees, clinically diagnosed with X-ALD in Peking University First Hospital from November 2012 and March 2019, were included in this retrospective study. Genomic DNA was extracted from peripheral blood and amniotic fluid or chorionic villi samples of probands and their families for detecting variants in ATP-binding cassette subfamily D member 1 ( ABCD1) gene using polymerase chain reaction (PCR)-Sanger sequencing. Linkage analysis was also performed on five microsatellite markers near ABCD1 gene to exclude maternal contamination. Characteristics of ABCD1 gene variants and prenatal diagnosis of X-ALD pedigrees were summarized by descriptive statistics. Results:Twenty ABCD1 gene variants were identified in the 20 pedigrees. The variants in three probands that were not detected by next-generation sequencing were identified by PCR-Sanger sequencing. Among the mothers of the 20 probands, 17 carried ABCD1 variants and three did not. We performed 24 prenatal diagnoses on 20 pregnancies (24 fetuses) and identified eight fetuses with variants who were finally terminated. The 16 cases without variants were born alive. The validation results obtained after termination or delivery were consistent with those performed prenatally. Conclusions:No hotspot variants in ABCD1 gene are detected in these X-ALD patients and most variants are maternally inherited. PCR-Sanger sequencing is an effective method for detecting ABCD1 variants. Prenatal diagnosis for mothers who had a body with X-ALD could prevent another one from birth.

Objective To evaluate the prognostic factors in locally advanced non-small-cell lung cancer (LA-NSCLC) for selectively carrying out prophylactic cranial irradiation (PCI).Methods 114 patients with LA-NSCLC between Jun 2006 and Oct 2010 were retrospectively analyzed. Related risk factors and features about brain metastases were analyzed.Results The 2-year incidence rate of brain metastases was 31.58 ％ (36/114),the first brain metastases was 20.18 ％ (23/114),and sole brain metastases was 9.65 ％(11/114),respectively.Variables involved in the equation of binary logistic regression analysis were pathology (OR =5.892) and treatment mode(OR =2.888).The incidence rate of brain metastases in patients of non-squamous carcinoma and single treatment mode was higher than others (P ＜ 0.01) Model fitting is better (P ＞ 0.05).Overall accuracy rate of predicting brain metastases is 67.7 ％.The increased rate of lactate dehydrogenase in the patients with brain metastases or death was 17.54 ％, which was higher than that in the survival patients without brain metastases (P ＜ 0.01).At the same time,the station number and the number of mediastinal lymph node metastases were positively correlated (r =0.716, P ＜ 0.01).The incidence rate of brain metastases or mortality rate was higher in the adenocarcinoma cases than that in the squamous carcinoma cases (P ＜ 0.01,P ＜ 0.05),with more frequent occurrence of mediastinal metastases.The mean diameter of squamous carcinoma and adenocarcinoma were 5.8 cm and 3.9 cm, respectively (P ＜ 0.01).Conclusions The incidence rate of brain metastases was higher in patients with single treatment.Large primary tumors, high lactate dehydrogenase, non-squamous carcinoma, multiple stations, and multiple mediastinal lymph nodes metastases can be regarded as risk factors of brain metastases to perform PCI.

Objective To investigate the influence of factors related to metabolic syndrome(MS)on the outcome in subjects without diabetes mellitus in a community.Methods A two-year follow-up study was conducted in 885 subjects who were enrolled in the epidemiologic survey carried out in Pingliang Community, Shanghai in 2002.Oral glucose tolerance test,lipid prefde,blood pressure(BP),body mass index(BMI),waist and hip circumferences were measured.Results (1)The baseline of BMI,fasting plasma glucose(FPG),2h plasma glucose after glucose loading(2hPG),BP,triglyceride(TG)in the subjects with impaired glucose regulation(IGR)increased significantly as compared to those with normal glucose regulation(NGR)(all P

Objective To investigate influence on dose distribution due to cavity and inhomogeneous structures using thermoluminescence dosimeters (TLD) and Chengdu phantoms.Methods A cavity 4 cm × 4 cm × 3 cm was made by a head and neck phantom and a lung phantom was cut into slices which were got a CT scanning and setup in a digital simulator.The TLD were pasted on edge and in the center of cavity structure and inhomogeneous structures.Treatment plans of different radiotherapy technologies were made generated and delivered on a linear accelerator.Then the TLD were read and analyzed.Results There were remarkable cavity effects of conventional single field,opposite fields and IMRT plans with 7 fields for head and neck phantom.There is similar effect in lung phantom.The more complexity the radiotherapy technology was the less cavity effect.Conclusions It is necessary to consider using more advanced radiotherapy technology or applying more fields to make treatment plans in order to decrease the cavity effect or similar effect when there are inhomogeneous structures.

To investigate the utility of optomap panoramic 200Tx in screening fundus disease among the patients after cataract surgery.
●METHODS: From November 18 th to December 31st , 2013 all 146 post- cataract surgery patients were recruited. All non - mydriatic fundus images were taken with the optomap panoramic 200Tx and were diagnosed by one masked retinal specialist. Non - mydriatic direct ophthalmoscope exam and mydriatic slit-lamp lens exam were also done by other two masked specialists. Comparisons of the three methods were made.
●RESULTS: Among 146 patients ( 161 eyes), 40 eyes (24. 8%) of retinal lesions was detected by non-mydriatic direct ophthalmoscope exam, 59 ( 36. 7%) by non -mydriatic optomap 200Tx exam, and 61 (37. 9%) by slit-lamp lens exam. Nine eyes ( 5. 6%) needed medical intervention immediately. Results of optomap 200Tx exams and slit - lamp lens exams were similar without statistically significant difference ( P > 0. 05), better than direct ophthalmoscope exam ( P < 0. 05) with statistically significant difference.
● CONCLUSlON: Opacification of the refractive medium makes thorough fundus examination impossible. So post-operative fundus examination is highly necessary and should be a routine. Optomap panoramic 200Tx, which shows no statistically difference from mydriatc slit- lamp lens exam, is a convenient and feasible method in discovering fundus pathological changes.

Objective To understand the status of the radiation therapy in sichuan province, analysis the development level of radiotherapy in the past five years in sichuan province,provide reference for the rational allocation of radiotherapy resources in the province, promote the healthy development of radiotherapy. Methods With reference to the surveys carried out by other provinces and the survey of sichuan province in 2009,to determine the survey schemes,survey projects. The survey covers all medical units of radiation therapy in the province, adopt the way of combination of questionnaire and on?the?spot visiting. Results There is a big progress in basic condition, treatment equipment, auxiliary equipment, verification equipment,personnel and application of new technologies. Compared with 2009 survey,multiple projects achieve a 50% or even more than 100% growth. Conclusions The rapid development of radiation oncology in sichuan province will ultimately benefit a large number of tumor patients in sichuan province. Patients will be treated with better environment,treatment technology and quality. At the same time,higher requirement of quality control for the entire province is put forward to us.

Coronavirus disease 2019 (COVID-19) is a highly contagious disease caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). More than one-third of patients with COVID-19 experience neurological symptoms, including confusion, headaches, and decreased/disordered taste. Alzheimer's disease (AD) is a slowly progressive neurodegenerative disease and the most common type of dementia. Alzheimer's disease patients are at high risk and susceptible to infection with COVID-19, which may cause severe illness and even death. There appears to be an interaction between AD and COVID-19, and on the one hand, patients with COVID-19 seem to be more likely to develop AD. AD patients, on the other hand, may be more susceptible to severe COVID-19. Therefore, understanding the common link between COVID-19 and AD may help to develop treatment strategies. Risk factors common to AD and COVID-19 are aging, ApoE ε4 allele, β-amyloid (Aβ) deposition, angiotensin-converting enzyme (ACE), neuroinflammation, oxidative stress. Here, this article focuses on the relationship between COVID-19 and AD, explores common risk factors and potential pathogenesis, and provides help for early prevention, treatment and recovery.

Objective:To investigate the effect of verapamil on the endotoxin-induced cytokine production and nuclear factor kappa B(NF-?B) activation in the liver. Methods:Fifty six adult male Sprague-Dawley rats were randomly divided into seven groups: group A: saline;group B:endotoxin(10 mg/kg,intraperitoneally,i.p.);group C,D,E,F:endotoxin(10 mg/kg) after treatment with verapamil(1,2.5,5,10 mg/kg i.p.respectively),and group G:verapamil alone(10 mg/kg).Tumor necrosis factor(TNF-?),interleukin-6(IL-6), interleukin-10(IL-10) and NF-?B in the liver tissues and the serum levels of ALT and AST were investigated at 1 h afer LPS injection. Results:Endotoxin stimulated production of TNF-?,IL-6 and IL-10,and activated NF?B in the liver.Verapamil attenuated acute liver injury,down-regulated endotoxin-induced pro-inflammatory cytokine production,up-regulated ant-inflammatory cytokines production and inhibited NF-?B activation in the liver in a dose-dependent manner.Conclusion:Verapamil can attenuate acute liver injury by down-regulating the production of TNF-?,IL-6 and up-regulating IL-10 in the liver in a dose-dependent manner,possibly via inhibition of NF-?B.