Objective:To explore the efficacy and safety of whole-brain low-dose radiotherapy(LDRT)combined with PD-1 inhibitor sin-tilimab and intrathecal pemetrexed(IP)for the treatment of refractory non-small cell lung cancer(NSCLC)with leptomeningeal metastases(LM).Methods:Retrospective analysies were was performed on eight NSCLC patients with LM at the West China Hospital of Sichuan Uni-versity from December 2022 to May 2024.Among the eight patients,there were four were males and four were females,with a median age of 49 years(rangeing,between 34 to 58 years).All patients were treated with whole-brain LDRT combined with immune checkpoint inhibit-or(ICI)and intrathecal chemotherapy regimens,and the therapeutic efficacy was evaluated according to the Response Assessment in Neuro-Oncology(RANO)criteria and the Karnofsky physical status(KPS)score.Adverse reactions were assessed according to the Common Criteria for the Evaluation of Adverse Events(CTCAE version 5.0).Survival analysis was performed using the Kaplan-Meier method.The classification proportion of cerebrospinal fluid subsets before and after treatment was analyzed using by single-cell sequencing,and the differential ana-lysis of gene expression in parallel cells was performed.Results:The best clinical treatment effects in eight patients were were evaluated us-ing the RANO criteria:five patients(62.5%)were evaluated as improved and three(37.5%)as stable.The median KPS score of the eight pa-tients was 30(20-50)before treatment,which was significantly improved to 60(40-90)after treatment(P=0.000 9).The remission rate of neurological symptoms was 100%(8/8)in eight patients.The median neurological progression-free survival(NPFS)was 12 months.The res-ults of single-cell sequencing in CSF of patientss(P1)showed that the proportion of T cells in the patient samples after whole-brain LDRT treatment was significantly higher than that before treatment(6.08%vs.68.87%),and the proportion of tumor cells was significantly lower(12.92%vs.0.6%).The differential analysis of gene expression showed that CCL5 and CXCL13 were significantly upregulated in T cells of CSF after WB-LDRT treatment.Conclusions:The combination of whole-brain LDRT with ICI and IP in the treatment of NSCLC with LM can signific-antly alleviate neurological symptoms,improve quality of life and prolong the NPFS of patients,which is a safe and effective treatment.

OBJECTIVE: To explore the genetic basis for a patient with autism. METHODS: High-throughput sequencing was carried out to detect copy number variations in the patient. RESULTS: DNA sequencing found that the patient has carried a 0.11 Mb deletion in distal 2p16.3 spanning from genomic position 50 820 001 to 50 922 000, which resulted removal of exon 6 and part of intron 7 of the NRXN1 gene. The same deletion was not found his parents and brother. CONCLUSION Partial deletion of the NRXN1 gene may underlie the disease in this patient.
Autistic Disorder ; genetics ; Cell Adhesion Molecules, Neuronal ; genetics ; DNA Copy Number Variations ; Gene Deletion ; Humans ; Male ; Nerve Tissue Proteins ; genetics

Objective: To explore the genetic basis for a patient with autism. Methods: High-throughput sequencing was carried out to detect copy number variations in the patient. Results: DNA sequencing found that the patient has carried a 0.11 Mb deletion in distal 2p16.3 spanning from genomic position 50 820 001 to 50 922 000, which resulted removal of exon 6 and part of intron 7 of the NRXN1 gene. The same deletion was not found his parents and brother. Conclusion Partial deletion of the NRXN1 gene may underlie the disease in this patient.

Intensive attention has been drawn to macrophages in obesity after the discovery of macrophage infiltration in adipose tissue. This review updates of adipose tissue macrophages in the immune-pathophysiology of obesity, including new progression on the adipose tissue macrophages phenotype and the potential of beige fat induction by M2 macrophage, which inspires a novel therapy for obesity and insulin resistance.

Objective To design a portable integrated remote medical examination chest for telemedicine of the servicemen in remote areas.Methods The chest involved in a portable multi-parameter vital signs monitor,a 12-lead network ECG machine,an optical endoscope,an electrostethophone and etc,and applied medical information technology,biosensor technology,IOT,cloud technology and etc.The terminals for diagnosis and treatment,doctor as well as data uploading were developed,and the network storage,control and interaction of multi-type data were realized for the terminals.Results The chest implemented inter-connection and inter-communication between the elementary medical facilities and rear hospitals,and thus facilitated the telemedicine service for the troops in remote areas.Conclusion The chest executes integrated medical service of the central hospital and troops in remote areas,and thus is worthy promoting in the telemedicine system of the PLA.

The advantages of non-contact medical monitoring radar were introduced compared with the traditional medical monitoring devices. The state of art of three kinds of typical medical monitoring radar schemes over the past decade was reviewed. Researches on breathing and heartbeat signal extraction, isolation and clutter suppression algorithms were summarized. The advantages and disadvantages of these algorithms were also pointed out. The prospects of non-contact medical monitoring radar were explored finally.

OBJECTIVETo investigate the G-protein beta 3 subunit (GNB3) gene 825C/T polymorphism and its relationship to obesity in Chinese population.

METHODSThree hundred and ninety nine subjects (270 non-obese and 129 obese individuals) from a population of Chinese Han nationality in Chengdu area were studied using PCR-restriction fragment length polymorphisms (PCR-RFLPs). Serum lipids were measured by enzymatic kits and apolipoproteins A I, A II, B100, C II, C III and E were measured by RID kits.

RESULTSThe frequencies of C and T alleles at the 825C/T site in obese and non-obese groups were 0.531 and 0.469, and 0.528 and 0.472, respectively. It showed no significant difference in both genotypes and allele frequencies between the non-obese and obese groups (P> 0.05). The frequency of T allele at 825C/T site in GNB3 gene in the population (0.471) was significantly higher than that of German white (0.319), lower than that of African black (0.788), and similar to that of Japanese (0.487). In the non-obese group, subjects with genotype TT had higher serum triglyceride(TG) concentrations than those with genotype CT (P< 0.05). In the obese group, subjects with genotype CC had lower serum high-density lipoprotein cholesterol(HDL-C) levels than those with CT genotype (P< 0.05). Similar results were only observed in non-obese male and obese female subgroups, respectively, when male and female subgroups were further separated in the two groups. In addition, non-obese males with genotype TT and obese females with genotype CC had lower HDL-C and higher apoA I levels than those with genotype CT, respectively. Obese males with genotype TT had higher apoA I levels than those with genotype CC.

CONCLUSIONThe 825C/T polymorphism in the GNB3 gene was not associated with obesity in Chinese Han population of Chengdu area. However, it may be associated with serum triglyceride, HDL-C and apoAI levels, with some gender-specific effect, in this population.

Adult ; Aged ; Aged, 80 and over ; Apolipoproteins ; blood ; Asian Continental Ancestry Group ; genetics ; Case-Control Studies ; Ethnic Groups ; genetics ; Female ; Gene Frequency ; Genotype ; Heterotrimeric GTP-Binding Proteins ; genetics ; Humans ; Lipids ; blood ; Male ; Middle Aged ; Obesity ; blood ; genetics ; Polymorphism, Single Nucleotide ; Sex Factors

OBJECTIVEThe aim of this study was to investigate variations of apolipoprotein A IV (apo A IV) gene and its relation to endogenous hypertriglyceridemia(HTG) in Chinese population.

METHODSOne hundred and six endogenous hypertriglyceridemics and 171 healthy subjects from a population of Chinese Han nationality in Chengdu area were studied using restriction fragment length polymorphisms (RFLPs) and sequencing of apoA IV gene amplified by polymerase chain reaction (PCR). The polymorphic sites of apo A IV gene studied included codon 9 (A to G, synonymous mutation), codon 347 (A to T, non-synonymous mutation), codon 360 (G to T, non-synonymous mutation), and Msp I polymorphism (CC/TGG) within intron 2.

RESULTSThe frequency of G allele at codon 9 in HTG group was higher than that in healthy controls(0.453 vs 0.366, P<0.05). The other polymorphic sites showed no significant differences of the allele frequencies between the two groups. The frequencies of rare alleles, such as G allele at codon 9, T allele at codon 347 and T allele at codon 360 polymorphic site were significantly different from those reported in European Caucasians (0.366 vs 0.032, P<0.001, 0.000 vs 0.160, P<0.001; 0.000 vs 0.070, P<0.001), but no differences were found when compared with those in Japanese, including Msp I site (P>0.05). In the healthy male control group, subjects with genotype G/G of codon 9 had a higher serum mean concentration of apoA I when compared with that of genotype A/A(P<0.01). In the HTG group, subjects with genotype C/T of Msp I site had a higher serum mean concentration of TG with compared with those with genotype C/C and T/T (P<0.05). This difference was only observed in male HTG group when male and female subgroups were further separated.

CONCLUSIONThese results suggest that Msp I and codon 9 polymorphism in apoA IV gene are associated with endogenous hypertriglyceridemia to some extent in Chinese population.

Adult ; Amino Acid Sequence ; Apolipoproteins A ; genetics ; Base Sequence ; China ; DNA ; chemistry ; genetics ; DNA Mutational Analysis ; Female ; Genetic Variation ; Humans ; Hypertriglyceridemia ; genetics ; Male ; Middle Aged ; Polymorphism, Restriction Fragment Length

In order to obersve the effect of dexamethasone on the secretion of apolipoproteins A Ⅰ, A Ⅱ, C Ⅲ, B100 and E by cultured HepG2 cells.The apolipoprotiens contents in culture media were measured by radioimmuodiffusion assay (RID) kits developed by authors' research unit. 20-fold lyophilizely condensed culture media were used for the assays. The results showed that dexamethasone can increase the secretion of apoC and E, and inhibit the secretion of apoAⅡ , B100 and CⅢ; and the effect of dexamethasone were strengthened in a dose-dependent manner. When the concentration of dexamethasone was 5.5 × 10-5mol/L in the culture media, the secretion of apolipoprotein A Ⅰ and E increased 36.6% and 49.4%(P ＜ 0.01) respectively, while the secretion of apo AⅡ , B100 and CⅢ decreased 38.9%、 31.9% and 29.8% (P＜0.01) respectively.

Objective　 To investigate apolipoprotein(apo) E polymorphism and its relationship with serum lipids and apolipoproteins in Chinese patients with endogenous hypertriglyceridemia(HTG). Methods　 apoE genotype was assayed by polymerase chain reaction-restriction fragment length polymorphism(PCR-RFLP), serum lipids were determined by enzyme method, and apolipoproteins were measured by radial immunodiffusion assay in 225 endogenous HTG patients whose fasting serum TG levels were ≥2.26 mmol/L and in 230 healthy subjects whose fasting serum lipids levels were TG<1.82 mmol/L, TC<6.21 mmol/L from a population of Chinese Han nationality in Chengdu area. Results　 Compared with the controls, the values of BMI,TG, TC, nHDLC, apoB100,CⅡ, CⅢ, E and TG/HDLC in HTG patients were significantly increased and the values of HDLC, apoAⅠ and apoE/apoCⅢ were significantly decreased(P<0.001). apoE3/3 genotype and allele ε3 frequency in HTG group and the control group were both the highest, and allele ε2 frequency in HTG group tended to increase than that in the control group(P>0.05). Both in HTG group and control group, the genotype of apoE2 had higher serum TG and apoE levels, lower LDLC level and decreased apoE/apoCⅢ ratio as compared with the genotype of apoE3 or apoE4(P<0.001). Conclusion　 Allele ε2 of apoE gene was associated with higher serum TG and apoE levels and lower serum LDLC level, and the lower ratio of apoE/apoCⅢ was associated with the higher serum level of TG in endogenous HTG.