Objective To explore the therapeutic efficacy of nanometer high-frequency square pulse light technology targeting kidney cancer.Methods Fifty BALB/c nude mice were vaccinated with human ACHN cell line and randomly divided into 1 control group and 4 therapeutic groups.The 4 therapeutic groups were cured with high-frequency square pulse light and nanometer high-frequency square pulse light.The treatment cycle was 4 weeks.The tumor growth condition and tumor-repres-sion change were observed and compared.Results The tumor volumes of the control group in-creased obviously,whereas the tumor volumes of the therapeutic groups decreased obviously or in-creased gently.The mean tumor volume and the tumor growth curve of the therapeutic groups were significantly lower than those of the control group(P＜0.05),but there was no significant difference between the therapeutic efficacy of the kidney cancer using high-frequency square pulse light and nanometer high-frequency square pulse light(P＞0.05).Synteresis of kidney carcinogenesis experiments results indicated that using high-frequency square pulse light and nanometer high-frequency square Dulse light could prevent the production and development of the kidney cancer(P＜0.05),but the svnteresis efficacy of the 2 methods had no obvious difference(P＞0.05).Conclusion Using highfrequency square pulse light and nanometer high-frequency square pulse light can cure the kidney cancer and,to some extent,prevent the production and development of kidney cancer.

10.3969/j.issn.1007-3969.2013.05.006

OBJECTIVE: To determine the spectrum of pathological genetic variants among 405 Chinese pedigrees affected with oculocutaneous albinism (OCA). METHODS: A total of 405 OCA patients were collected. High-throughput sequencing (The panel included TYR, OCA2, TYRP1 and SLC45A2 genes), Sanger sequencing and multiplex ligation-dependent probe amplification (MLPA) were used to analyze the genetic variants and patterns of each subtype. RESULTS: The overall detection rate of genetic variants was 79.9% (647/810), and the variants included missense variants (57.3%, 371/647), frameshift variants (22.9%, 148/647), nonsense variants (13.9%, 90/647), splicing variants (5.6%, 36/647), and microdeletions (0.3%, 2/647). Thirty-six novel variants were detected. Of the 405 patients, 306 have carried 2 variant alleles (75.6%, 306/405), 35 carried 1 variant alleles (8.6%, 35/405), while no variant was detected in 64 patients. Among the 306 genetically diagnosed OCA patients, OCA1 was the most common form (74.5%, 228/306), compared with OCA2 (15.0%, 46/306), OCA3 (0.7%, 2/306) and OCA4 (9.8%, 30/306), respectively. One patient was found to harbor homozygous c.1262-4_c.1262-3insTAGA variant of the TYRP1 gene. Another patient was found to carry compound heterozygous variants of c.1214C>A (p.T405N) and c.1338delinsCG(p.V447Gfs*19) of the TYRP1 gene. CONCLUSION High-throughput sequencing in combination with Sanger sequencing and MLPA can effectively detect genetic variants associated with OCA. Above finding has expanded variant spectrum of OCA, which can facilitate genetic and prenatal diagnosis of this disease in China.

OBJECTIVE: To explore the genetic basis for a child featuring Chediak-Higashi syndrome (CHS). METHODS: Clinical manifestations and results of auxiliary examination of the proband were analyzed. The proband was subjected to whole exome sequencing, and the results were verified by Sanger sequencing. Correlation between the genotype and clinical phenotype was analyzed. RESULTS: The proband showed partial skin albinism, recurrent respiratory infection and other immune deficiencies. Genetic testing showed that he has harbored c.2437C>T (p.Arg813*) and c.6077dupA (p.Tyr2026fs) (NM_000081) compound heterozygous variants of the LYST gene, for which his parents were both carriers. Neither variant was reported previously. HEAT repeats domain was frequently associated with more severe phenotype of CHS (81.6%), whilst no variant has been found in the PH_BEACH domain. CONCLUSION This study has enriched the spectrum of LYST gene variants associated with CHS and enabled clinical diagnosis, prenatal diagnosis and prognostic evaluation for the child.
Male ; Humans ; Chediak-Higashi Syndrome/genetics* ; Vesicular Transport Proteins/genetics* ; Heterozygote ; Genetic Testing ; China

OBJECTIVE: To analyze the dynamic variant and clinical subtype of a pedigree affected with spinocerebellar ataxia (SCA) by using fluorescent-labeled primer combined with capillary electrophoresis. METHODS: Genomic DNA was extracted from 8 members including 6 patients and 2 healthy individuals from the pedigree. Six pairs of fluorescent-labeled primers were designed to screen pathological variants in association with common subtypes of SCA including SCA1, SCA2, SCA3, SCA6, SCA12 and SCA17.The PCR products were detected by capillary electrophoresis. RESULTS: The number of CAG repeats in the SCA3 gene of the proband were determined as 8 and 70, exceeded the normal range(12 to 40), which suggested a diagnosis of SCA3. The other five patients were all detected with abnormal CAG repeats in the SCA3 gene, while the two healthy individuals were determined to be within the normal range. CONCLUSION The abnormal expansion of CAG repeats in the SCA3 gene probably underlay the pathogenesis of the disease in this pedigree. Combined fluorescent-labeled primers PCR and capillary electrophoresis can detect dynamic variants among SCA patients with efficiency and accuracy.
Ataxin-3/genetics* ; Genetic Variation ; Humans ; Machado-Joseph Disease/genetics* ; Pedigree ; Repressor Proteins/genetics* ; Trinucleotide Repeats/genetics*

Objective:To explore the application value of compute tomography(CT)scan with 16cm wide body detector in chest examination of patients who could not cooperate with breath-holding.Methods:A total of 100 patients who could not cooperate with breath-holding during chest examination in the second affiliated hospital of Shenyang Medical College from May to August in 2022 were selected,and they were randomly divided into observation group and control group,with 50 patients in each group.The collimation width of CT scan with 16cm wide body detector was 256 mm×0.625 mm in the observation group,and that with 8 cm wide body detector was 128 mm×0.625 mm in the control group,and other parameters of two groups were same.A series of indicators included age,height,weight and body mass index(BMI)of patients were recorded,and the CT dose index(CTDIvol),dose length product(DLP),effective dose(ED)were measured and calculated.And then,the Contrast to Noise ratio(CNR),signal to noise(SNR)and Standard Deviation(SD)between two groups were compared,and the image quality was evaluated objectively and subjectively.Results:The average age and the average weight of the patients in the observation group were respectively(78.81±6.84)years old and(64.46±9.86)kg,and the mean values of BMI,CTDIvol,DLP,ED and exposure time were respectively(22.89±3.09)kg/m2,(4.61±1.00)mGy,(1 471.02±345.25)mGy·cm,(20.59±4.83)mSv,(1.01±0.61)s.The average age and the average weight of the patients in the control group were respectively(77.70±6.76)years old and(62.84±4.75)kg.The mean values of BMI,CTDIvol,DLP,Ed and exposure time were respectively(22.89±2.29)kg/m2,(14.5±0.00)mGy,(4 561.70±346.32)mGy·cm,(63.86±4.85)mSv and(4.07±0.12)s.The differences of subjective evaluations of main pulmonary artery,right inferior pulmonary vein trunk and aortic arch between the observation group and the control group were not significant(P>0.05).The subjective scores of image qualities both two groups were larger than 4,and the image qualities of two groups could meet the diagnostic requirements.The CTDIvol,DLP,ED and exposure time of observation group were significantly lower than those in control group(t=-69.42,-44.231,-44.234,-107.10,P<0.05),respectively.Conclusion:Compared with the CT scan with conventional 8 cm detector,the CT scan with 16 cm wide body detector can greatly shorten the scanning time and reduce the radiation dose in the chest CT scan of patients with free breathing,and the image quality of that can meet the requirement of clinical diagnosis,which has very high application value in the fast diagnosis of clinical emergency.

Objective With the focus on emerging infectious diseases and diseases of unknown cause,the study aims to realize multi-point trigger monitoring of infectious diseases through key monitoring sites and key populations.Methods Using ar-tificial intelligence,deep learning,big data and other information technologies to build an intelligent information center for infec-tious diseases with patients'disease files as the core,construct a core capacity of infectious disease surveillance,early warning and situation prediction,and predict and evaluate the importance of infectious disease warning signals.Results The system cov-ered 1 425 primary-level medical institutions,18 hospitals,2 580+schools,4 134 pharmacies,4 laboratories and civil affairs departments,detected 55 kinds of infectious diseases and 6 kinds of syndrome monitoring signals.Since its launch,121 000 ac-tive notification cards have been issued,more than 54 000 new notification cards have been added,35.256 million times of multi-source monitoring and 14.4 million disease files have been recorded.Conclusion By expanding monitoring content and chan-nels,we realized early monitoring,auxiliary investigation and multi-mode visual early warning of infectious diseases,built a multi-point trigger mechanism,and moved forward the infectious disease surveillance.

OBJECTIVE: To explore the genetic etiology of a Chinese pedigree affected with infantile hepatitis syndrome. METHODS: Genes associated with liver diseases subjected to high-throughput sequencing. Candidate variants were validated by Sanger sequencing of the proband and his parents. The pathogenicity of the variants was analyzed through bioinformatic analysis. RESULTS: High-throughput sequencing revealed that the proband has harbored c.182T>C (p.F61S) and c.293C>T (p.P98L) variants of the MPV17 gene, which were verified by Sanger sequencing to be inherited from his parents. The variant c.182T>C (p.F61S) was unreported previously and predicted to be likely pathogenic by bioinformatic analysis. CONCLUSION The proband was caused by the compound heterozygous variations of MPV17 gene including c.182T>C (p.F61S) and c.293C>T (p.P98L). Discovery of the novel variant has enriched the spectrum of pathogenic variants of the MPV17 gene.
China ; DNA, Mitochondrial/genetics* ; Female ; Genetic Testing ; Humans ; Membrane Proteins/genetics* ; Metabolism, Inborn Errors/genetics* ; Mitochondrial Proteins/genetics* ; Mutation ; Pedigree ; Pregnancy ; Prenatal Diagnosis ; Syndrome

OBJECTIVE: To explore the genetic etiology for a Chinese pedigree affected with Meckel syndrome. METHODS: A pedigree with a history of three consecutive adverse pregnancies which presented at the First Affiliated Hospital of Zhengzhou University on August 31, 2017 was selected as the study subject. Clinical data of the pedigree were collected. High-throughput sequencing was carried out to screen for variants of ciliopathy-related genes in the third fetus following induced abortion, and candidate variant was verified by Sanger sequencing. RESULTS: The first pregnancy of the couple had ended as spontaneous abortion, whilst the fetus of the second pregnancy was suspected for having ciliopathy, though no genetic testing was carried out following elected abortion. The fetus of the third pregnancy was suspected for having ciliopathy, and high-throughput sequencing and Sanger sequencing had shown that the fetus had harbored compound heterozygous variants of the TMEM67 gene, including c.978+1G>A from the father and c.1288G>C (p.D430H) from the mother. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the c.978+1G>A was classified as a pathogenic variant (PVS1+PM2_Supporting+PP5), whilst the newly discovered c.1288G>C (p.D430H) was classified as a likely pathogenic variant (PM2_Supporting+PM3+PM5+PP3). CONCLUSION The c.978+1G>A and c.1288G>C (p.D430H) compound heterozygous variants of the TMEM67 gene probably underlay the three consecutive adverse pregnancies suspected for ciliopathy in this pedigree. The discovery of c.1288G>C (p.D430H) has also expanded the mutational spectrum of the TMEM67 gene.
Female ; Pregnancy ; Humans ; Pedigree ; East Asian People ; Ciliary Motility Disorders/genetics* ; Ciliopathies ; Abortion, Spontaneous ; Membrane Proteins/genetics*

OBJECTIVE: To assess the value of non-invasive prenatal testing based on cfDNA barcode-enabled single-molecule test (cfBEST) for the prenatal diagnosis of oculocutaneous albinism type I in a family. METHODS: Prenatal genetic diagnosis was carried out by using the cfBEST-based method as well as invasive prenatal diagnosis through amniocentesis. The outcome of the pregnancy was followed up. RESULTS: Non-invasive prenatal testing based on cfBEST showed a fetal DNA concentration of 6.6%, with the proportion of c.929_930insC (p.Arg311Lysfs*7) and c.1037-7T>A mutations being 45.7% and 0%, respectively. The posterior frequency of the negative results was 1, suggesting that the fetus carried neither of the two mutations. The result was consistent with that of invasive prenatal diagnosis, and the follow-up found that the fetus was normal. CONCLUSION Non-invasive prenatal testing based on cfBEST can be used to detect maternal and fetal genotypes in maternal cell-free DNA, which is clinically feasible.
Albinism ; Albinism, Oculocutaneous/genetics* ; Amniocentesis ; Cell-Free Nucleic Acids ; Female ; Humans ; Pregnancy ; Prenatal Diagnosis