OBJECTIVE: To assess the patterns of linkage disequilibrium (LD) of 16 STR loci on X chromo- some and investigate the genetic stability. METHODS: Genomic DNA samples extracted from blood stains from 500 unrelated individuals and 885 lineage members from Eastern Chinese Han population were genotyped through multiplex amplification using IDtyperX-16 kit by our independent research followed by capillary electrophoresis. LD was assessed by PowerMarker v3.25 software and mutation rate of every locus was analyzed. RESULTS: LD were not found at the 16 X-STR loci. Allele mutations were observed at 10 loci. Among them, mutation rates of DXS6809 and DXS7132 were both up to 0.0048. CONCLUSION When the 16 X-STR loci included in IDtyperX-16 kit were used for parentage testing, product princi- ples can be applied to calculate the likelihood, but mutation should be taken into consideration in the case that the genotypes do not meet the genetic law (especially at DXS6809 and DXS7132).
Alleles ; Asian People/genetics* ; Blood Stains ; China ; Chromosomes, Human, X/genetics* ; Electrophoresis, Capillary ; Female ; Forensic Genetics/methods* ; Gene Frequency ; Genetic Loci/genetics* ; Genotype ; Humans ; Linkage Disequilibrium/genetics* ; Microsatellite Repeats/genetics* ; Multiplex Polymerase Chain Reaction ; Mutation ; Mutation Rate

Aged ; CD5 Antigens ; metabolism ; Carcinoma, Basal Cell ; metabolism ; pathology ; surgery ; Diagnosis, Differential ; Humans ; Lung Neoplasms ; pathology ; Male ; Mediastinal Cyst ; pathology ; Middle Aged ; Proto-Oncogene Proteins c-kit ; metabolism ; Thymoma ; pathology ; Thymus Neoplasms ; metabolism ; pathology ; surgery

Objective:To investigate whether radiotherapy should be delivered before the application of immune checkpoint inhibitor PD-1 in patients with advanced non-small cell lung cancer (NSCLC) and evaluate the effect of previous radiotherapy on the efficacy and pulmonary toxicity of PD-1 inhibitor.Methods:Clinical data of patients with stage Ⅳ NSCLC who received immunotherapy in Henan Cancer Hospital from March 2015 to September 2019 were retrospectively analyzed. The baseline data of patients, the status of radiotherapy and immunotherapy and the pulmonary toxicity were collected. According to whether radiotherapy was given before PD-1 inhibitor application, all patients were divided into the previous radiotherapy and non-radiotherapy groups. Survival analysis was performed by Kaplan- Meier method. Results:A total of 90 patients were enrolled including 39 cases in the previous radiotherapy group and 51 cases in the non-radiotherapy group. The median follow-up time was 22.9 months. The median progression-free survival (mPFS) in the previous radiotherapy group was 7.5 months (95% CI 5.4-9.5 months), significantly longer compared with 4.1 months (95% CI 3.1-5.1 months) in the non-radiotherapy group ( P=0.003). The median overall survival (mOS) significantly differed between two groups[15.2 months (95% CI 12.3-18.1 months) vs. 9.3 months (95% CI 6.1-12.5 months)]( P=0.040). The incidence of pulmonary toxicity showed no significant difference between two groups ( P=0.154). Conclusions:Patients with stage Ⅳ NSCLC patients in the previous radiotherapy group obtain significantly better mPFS and mOS and similar pulmonary toxicity compared with their counterparts in the non-radiotherapy group. Nevertheless, the findings remain to be validated by subsequent investigations with larger sample size.

AIM:To observe related biological parameters of 3 minutes dark-room provocative test in patients with laser peripheral iridectomy(LPI) in the fellow eyes of acute primary angle-closure (APAC) by ultrasound biomicroscopy (UBM).To explore the risk factors in primary angle closure suspect(PACS) patients with progressive angle closure after LPI.METHODS: Seventy-eight eyes of APAC patients without peripheral anterior synechia were selected.Each eye underwent 3 minutes dark-room provocative test after LPI.Anterior segment parameters, including anterior chamber depth (ACD), anterior chamber angle open distance500 (AOD500), peripheral iris thickness (PIT), iris convex (IC), the position of iris insertion and trabecular-ciliary process distance (TCPD), and the number of positional angle closure(NPAC) were observed and analyzed by statistic methods.RESULTS:Patients with APAC were examined by UBM after LPI and 26 eyes(33%) occurs at least one positional angle closure,19 eyes(24%)were positive in 3 minutes dark-room provocative test among them.It occurs a positive relationship between the elevation intraocular pressure and the number of positional angle closure in dark-room provocative test(r=0.84, P<0.01).AOD500, IT and IC were significantly changed from normal light to darkroom between positional angle closure positive group and positional angle closure negative group(all P<0.01).In single factor analysis, AOD500(P=0.003), IT(P=0.012), IC(P=0.043), TPCD(P=0.015), the position of iris insertion(P=0.024) were correlative factors of positive results.In multiple-factor analysis, only IT(P=0.011), TPCD(P=0.009), iris root attachment points(P=0.02) were independent risk factors of positive results.CONCLUSION:A certain proportion of patients with PACS after LPI appeared positional angle closure in a dark room.Peripheral iris hypertrophy, anterior displacement of the ciliary body and iris root attachment points are vital risk factors.Long-term follow-up study and intervention treatment are required in these patients after LPI.

Objective To identify the polyreactivity of a monoclonal natural anti-keratin autoantibody 3B4 and to analyze its possible molecular me chanism.Methods enzyme-linked immunosorbent assay (ELISA)and immunohistoche mistry were applied to test the binding reactivity of 3B4 against different anti gens and tissues.The variable region genes and their amino acid composition wer e sequenced.Results 3B4 could reacted with a range of antigens and tissues,i n addition to keratin and skin.The variable region genes of its light chain and heavy chain showed high homology with germline genes VK1 am4 and VH1 J558.42.H CDR3 region,which mainly composed of short side chain amino acids(from 294 to 324 nucleotides around the heavy chain),was the only motif that differs from ot her highly homologous immunoglobulin genes.Conclusions The monoclonal natural anti-keratin autoantibody 3B4,with its variable region genes highly homologo us to germline genes,is highly polyreactive.The flexibility of HCDR3 may contr ibute to the polyreactivity.

Objective Familial left ventricular noncompaction( LVNC ) is quite rare.We screened for the presence of LVNC and related clinical characteristics in a 5-generation Chinese family.Methods Comprehensive medical history was obtained from 40 members in a 5-generation Chinese family.Systemic clinical investigations including echocardiography (UCG),routine and ambulatory electrocardiogram (ECG),X-rays were performed in 33 family members.Cardiovascular magnetic resonance image (MRI) was carried out in 2 family members.Results Sudden cardiac death (including 1 occurred while following-up)was reported in 7 family mcmbers( 17.5％,7/40 ).LVNC was diagnosed in 10 out of the 33 family members (30.3％ )and heart enlargement was evidenced in 3,heart failure in 2,complete left branch conductive block in 3,serious sick sinus syndrome (SSS) treated with permanent pacemaker implantation in 1 and paroxysmal supraventricular tachycardia treated with radiofrequency ablation procedure in 1 out of these 10 LVNC patients.Primary pedigree analysis revealed that offspring from female patients were at the highest risk to be affected by LVNC ( 15/18,83.3％ ) while LVNC was absent in offspring of male LVNC patients (0/8).Moreover,clinical heart failure symptoms and arrhythmias were more severe in female LVNC patients than in male LVNC patients.Conclusion Primary familial investigation reveals the matrilineal inheritauce of familial LVNC in this 5-generation Chinese family,further investigations are warranted to explore the potential mutations in the mitochondrial genome responsible for LVNC in this family.

To observe the effects of total flavones of Metasequoia glyptostroboides Hu et Cheng (TFM) on volume-overload cardiac hypertrophy and the expression of c-Fos protein in rat. Methods　Volume-overload cardiac hypertrophy of rat was induced by aortocaval shunts. The rats were given ig TFM (400, 40 and 4 mg/kg/d). c-Fos protein in the ventricles were measured by immunocytochemical study. Results　TFM at the above dosage decreased heart weight and contents of RNA and protein in the myocardium, inhibited the expression of c-Fos protein in the ventricles. Conclusion　TFM can prevent volume-overload cardiac hypertrophy in rats. The inhibitory effects on the expression of c-Fos protein may be its mechanism in the molecular level.

OBJECTIVEIsobaric tags for relative and absolute quantitation (iTRAQ) combined with mass spectrometry were used to screen differentially expressed plasma proteins in cold stress rats.

METHODSThirty health SPF Wistar rats were randomly divided into cold stress group A and control group B, then A and B were randomly divided into 3 groups (n = 5): A1, A2, A3 and B1, B2, B3. The temperature of room raising was (24.0 +/- 0.1) degrees C, and the cold stress temperature was (4.0 +/- 0.1) degrees C. The rats were treated with different temperatures until 12 h. The abdominal aortic blood was collected with heparin anticoagulation suction tube. Then, the plasma was separated for protein extraction, quantitative, enzymolysis, iTHAQ labeling, scx fractionation and mass spectrometry analysis.

RESULTSTotally, 1085 proteins were identified in the test, 39 differentially expressed proteins were screened, including 29 up-regulated proteins and 10 down-regulated proteins. Three important differentially expressed proteins related to cold stress were screened by bioinfonnatics analysis (Minor histocompatihility protein HA-1, Has-related protein Rap-1b, Integrin beta-1).

CONCLUSIONIn the experiment, the differentially expressed plasma proteins were successfully screened in cold stress rats. iTRAQ technology provided a good platform to screen protein diaguostic markers on cold stress rats, and laid a good foundation for further. study on animal cold stress mechanism.

Objective To develop a new type of individual first aid kit for plateau conditions to treat acute high altitude reaction.Methods The theories of military preventive medicine as well as the practices of plateau medical protection and treatment were involved in the design and manufacturing of the kit with emphases on kit body architecture design and selection of equipped medicinal materials.Totally 2 100 servicemen had 1 000 ones divided into a control group and 1 100 ones into an observation group.The two groups both underwent conventional treatment,while the observation group applied the kit besides.The incidence rates and curative effects of acute high altitude reaction were compared in the two groups.Results The kit improved first aid of acute high altitude reaction in time consumed and speed.One week after entering the plateau the scores of headache,gastrointestinal symptom,fatigue and dizziness were (1.5±0.5),(1.7±0.4),(1.3±0.6) and (1.6±0.7) respectively in the observation group,and (2.3±0.6),(2.4±0.5),(2.2±0.5) and (2.4±0.6) respectively in the control group.One month after entering the plateau,the observation group had the recovery rate being 99.2％ and the mean therapy time being (8.1±3.3)d,and the control group had the recovery rate being 91.2％ and the mean therapy time being (15.2±6.4)d.The observation group behaved better than the control group in disease grading,therapy time,recovery rate significantly (P＜0.05).Conclusion The kit gains advantages in convenience,portability and curative effect when used to treat acute high altitude reaction,and thus is worthy promoting practically.

Background There is multi-dimensional order of spatial stereopsis perception in human,however,current stereopsis examination is zero-order of position disparity.A multi-dimensional space perception model is very important for the detection of stereoacuity.Objective This study was to screen the deficit of zero-order,first-order,second-order multi-dimensional spatial stereopsis perception in amblyopia and strabismus children and to explore the association of zero-order,first-order,second-order spatial perception deficit.Methods Multidimensional spacial perception was examined in 79 children aged 4-14 years in Beijing Children' s Hospital.Nineteen normal children,19 children with ametropia amblyopia,12 children with anisometropic amblyopia,18 children with strabismus and 11 children with strabismus combined amblyopia were included this study.The random-dot and line spatial stereopsis perception in zero-order,first-order and second-order were examined with a new system of multidimensional space perception screening.Written informed consent was obtained from each subject or custodian before any ocular examination associated with this study.Results Absence of zero-order,first-order,second-order random-dot channel was found in 24 children (24/79,30.4％),18 children (18/79,22.8％) and 24 children (24/79,30.4％) respectively,with an average percentage of 27.9％.Absence of zero-order,first-order,second-order line channel was examined in 37 children (37/79,46.8％),37 children (37/79,46.8％),32 children (32/79,40.5％),with an average percentage of 44.7％.In the children with a deficiency of the zero-order spatial perception,the children who still remained the first-order or/and second-order spatial perception of random-dot accounted for 41.6％ and that of lines accounted for 43.2％.In children without deficiency of zero-order random-dot or lines spatial space perception,deficiency of first-order and/or second-order spatial perception was in 37.5％ children.Various order spatial perception deficiency was seen in children suffering from amblyopia or strabismus compared with normal group(P ＜ 0.05).Conclusions There exists spatial perception deficiency in children with amblyopia or strabismus.The patients with zero-order spatial perception absence partially remain a first-order or/and second-order spatial perception;while the patients with normal zero-order spatial perception might have first-order or second-order spatial perception deficiency.The multi-dimensional space perception model has a directive role for the training of visual information process and the treatment of spatial perceptual learning in children with amblyopia or strabismus.