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1.
Chinese Journal of Lung Cancer ; (12): 156-166, 2022.
Article in Chinese | WPRIM | ID: wpr-928793

ABSTRACT

BACKGROUND@#Malignant pleural effusion is one of the common clinical manifestations of patients with lung adenocarcinoma. Patients with pleural effusion at the initial diagnosis of lung adenocarcinoma usually indicate poor prognosis. Epidermal growth factor receptor (EGFR) mutations mainly occur in patients with lung adenocarcinoma. Patients with different mutant subtypes have different prognosis. The clinical characteristics and prognostic factors of patients with EGFR mutated lung adenocarcinoma of different molecular subtypes combined with pleural effusion at initial diagnosis are still unclear. This study was designed to explore the clinical characteristics and prognostic factors of these patients in order to provide management recommendations for them.@*METHODS@#A retrospective analysis of the clinical characteristics, treatment, outcomes and progression-free survival (PFS) of first-line treatment in patients with EGFR mutated lung adenocarcinoma combined with pleural effusion at initial diagnosis admitted to Department of Medical Oncology and Radiation Sickness, Peking University Third Hospital from January 2012 to June 2021 was performed. Pearson's chi-square test or Fisher's exact test were performed for comparison between groups. Kaplan-Meier method was performed for survival analysis and Cox proportional risk regression model was performed for multivariate analysis.@*RESULTS@#76 patients met the inclusion criteria in this study. The incidences of EGFR classical mutations 19del, 21L858R and non-classical mutations were 46.0%, 38.2% and 15.8%, respectively among these patients. There was no significant difference between the three mutations in terms of gender, age, presence of dyspnea at presentation, whether other distant metastases were combined, site of pleural effusion, volume of pleural effusion, presence of other combined effusions, tumor-node-metastasis (TNM) stage, presence of other gene mutations, and treatment of pleural effusion (P>0.05). In patients with EGFR classical mutations 19del or 21L858R or non-classical mutations subtype, the proportion of chemotherapy in first-line regimens were 17.1%, 20.7% and 58.3%, respectively (P=0.001); and first-line disease control rates were 94.3%, 75.9% and 50%, respectively (P=0.003); pleural effusion control rates were 94.3%, 79.3% and 66.7%, respectively (P=0.04); PFS were 287 d, 327 d and 55 d, respectively (P=0.001). Univariate analysis showed that EGFR mutation subtype, control of pleural effusion, first-line treatment agents, and first-line treatment efficacy were significantly associated with PFS (P<0.05). Cox multifactorial analysis showed that only EGFR mutation subtype and first-line treatment efficacy were independent prognostic factors for PFS (P<0.05).@*CONCLUSIONS@#PFS was significantly better for classical mutations than for non-classical mutations in patients with EGFR mutated lung adenocarcinoma combined with pleural effusion at initial diagnosis. Improving the efficacy of first-line therapy is the key to improve the prognosis of these patients.


Subject(s)
Adenocarcinoma of Lung/genetics , ErbB Receptors/genetics , Humans , Lung Neoplasms/pathology , Mutation , Pleural Effusion/complications , Prognosis , Retrospective Studies
2.
Chinese Journal of Lung Cancer ; (12): 137-146, 2022.
Article in English | WPRIM | ID: wpr-928791

ABSTRACT

BACKGROUND@#The literature recommends that reduced dosage of CPT-11 should be applied in patients with UGT1A1 homozygous mutations, but the impact of UGT1A1 heterozygous mutations on the adverse reactions of CPT-11 is still not fully clear.@*METHODS@#A total of 107 patients with UGT1A1 heterozygous mutation or wild-type, who were treated with CPT-11 from January 2018 to September 2021 in Peking University Third Hospital, were retrospectively enrolled. The adverse reaction spectra of patients with UGT1A1*6 and UGT1A1*28 mutations were analyzed. Adverse reactions were evaluated according to National Cancer Institute Common Terminology Criteria for Adverse Events (NCI-CTCAE) 5.0. The efficacy was evaluated according to Response Evaluation Criteria in Solid Tumors (RECIST) 1.1. The genotypes of UGT1A1*6 and UGT1A1*28 were detected by digital fluorescence molecular hybridization.@*RESULTS@#There were 43 patients with UGT1A1*6 heterozygous mutation, 26 patients with UGT1A1*28 heterozygous mutation, 8 patients with UGT1A1*6 and UGT1A1*28 double heterozygous mutations, 61 patients with heterozygous mutation at any gene locus of UGT1A1*6 and UGT1A1*28. Logistic regression analysis showed that the presence or absence of vomiting (P=0.013) and mucositis (P=0.005) was significantly correlated with heterozygous mutation of UGT1A1*28, and the severity of vomiting (P<0.001) and neutropenia (P=0.021) were significantly correlated with heterozygous mutation of UGT1A1*6. In colorectal cancer, UGT1A1*6 was significantly correlated to diarrhea (P=0.005), and the other adverse reactions spectrum was similar to that of the whole patient cohort, and efficacy and prognosis were similar between patients with different genotypes and patients treated with reduced CPT-11 dosage or not.@*CONCLUSIONS@#In clinical use, heterozygous mutations of UGT1A1*6 and UGT1A1*28 are related to the risk and severity of vomiting, diarrhea, neutropenia and mucositis in patients with Pan-tumor and colorectal cancer post CPT-11 therpy. In colorectal cancer, UGT1A1*6 is significantly related to diarrhea post CPT-11 use, efficacy and prognosis is not affected by various genotypes or CPT-11 dosage reduction.


Subject(s)
Camptothecin/therapeutic use , Glucuronosyltransferase/genetics , Humans , Lung Neoplasms/drug therapy , Mutation , Polymorphism, Genetic , Retrospective Studies
3.
Article in Chinese | WPRIM | ID: wpr-928670

ABSTRACT

OBJECTIVE@#To explain the clinicobiological heterogeneity of NPM1 mutated (NPM1mut) acute myeloid leukemia (AML) by analyzing the association between next-generation sequencing (NGS) profiles and MICM characteristics in patients with this AML subtype.@*METHODS@#Data of 238 NPM1mut patients with available NGS information on 112 genes related to blood disease was collected, and χ2 test and nonparametric test were used to analyze the distribution association between NGS-detecting mutations and conventional MICM parameters.@*RESULTS@#In entire NPM1mut cohort, totaling 240 NPM1 mutation events were identified, of whom 10 (10/240, 4.2%) were missense mutations, which did not involve any W288 or W290 locus and were found exclusively in NPM1mut/FLT3-ITD- group. All but one of these missense mutations (9/10, 90%) were accompanied by AML subtype-defining recurrent cytogenetic or molecular abnormalities, of which 7 cases were in the low risk and 2 in the high risk. NPM1mut occurred solely as an insertion/deletion (indel) type in the NPM1mut/FLT3-ITD+ group. The incidence of favorable plus unfavorable karyotypes in NPM1mut/FLT3-ITD- group was higher than in NPM1mut/FLT3-ITD+ group (6.4% vs. 0, P=0.031). The positive rates of CD34 and CD7 in NPM1mut/FLT3-ITD+ group were significantly higher than in NPM1mut/FLT3-ITD- group (CD34: 47.9% vs. 20.6%, P<0.001; CD7: 61.5% vs. 29.9%, P<0.001). Logistic analysis showed that FLT3-ITD independently predicted for CD34+ and CD7+ [odds ratio (OR)=5.29, 95%CI: 2.64-10.60, P<0.001; OR=3.47, 95%CI: 1.79-6.73, P<0.001; respectively]. Ras-pathway mutations independently predicted for HLA-DR+ (OR=4.05, 95%CI: 1.70-9.63, P=0.002), and KRAS mutation for MPO- (OR=0.18, 95%CI: 0.05-0.62, P=0.007). TET2/IDH1 mutations independently predicted for CD34- and CD7- (OR=0.26, 95%CI: 0.11-0.62, P=0.002; OR=0.30, 95%CI: 0.14-0.62, P=0.001; respectively), and MPO+ (OR=3.52, 95%CI: 1.48-8.38, P=0.004). DNMT3A-R882 independently predicted for CD7+ and HLA-DR+ (OR=3.59, 95%CI: 1.80-7.16, P<0.001; OR=13.41, 95%CI: 4.56-39.45, P<0.001; respectively), and DNMT3A mutation for MPO-(OR=0.35, 95%CI: 1.48-8.38, P=0.004).@*CONCLUSION@#Co-existing FLT3-ITD in NPM1mut AML independently predicts for CD34+ and CD7+, co-existing Ras-pathway mutation for HLA-DR+ and MPO-, co-existing TET2/IDH1 mutation for CD34-, CD7-, and MPO+, and co-existing DNMT3A mutation for HLA-DR+, CD7+, and MPO-, thereby providing a new mechanism explanation for the immunophenotypic heterogeneity of these AML patients.


Subject(s)
High-Throughput Nucleotide Sequencing , Humans , Leukemia, Myeloid, Acute/genetics , Mutation , Nuclear Proteins/genetics , Nucleophosmin , Prognosis , fms-Like Tyrosine Kinase 3/genetics
4.
China Pharmacy ; (12): 217-224, 2022.
Article in Chinese | WPRIM | ID: wpr-913114

ABSTRACT

OBJECTIVE To establish t he method for determining the concentrations of fluoxetine ,norfluoxetine and sertraline in human placental perfusate method and their placental permeability. METHODS Using glyburide as internal standard ,the samples were pretreated by protein precipitation method and detected by ultra-fast liquid chromatograph-mass spectrometer/mass spectrometer (UFLC-MS/MS). The determination was performed on Synergi TM Hydro-RP 80A LC column with mobile phase consisted of water (containing 0.1% formic acid )-acetonitrile(containing 0.1% formic acid )at the flow rate of 0.70 mL/min,with a gradient elution. The column temperature was set at 40 ℃,and sample size was 5 μL. Detection was performed with electrospray ionization source in multipl e reaction monitoring mode . The ion pairs for quantitative analysis we re m/z 309.9→148.1(fluoxetine),m/z 296.0→134.4 (-167), (norfluoxetine),m/z 306.1→159.0 (sertraline),m/z 493.9→ No.2018FE001(-207),(internal standard ). The perfusion model of singal placenta under bidrectional cardiopulmonary bypass was established. Fluoxetine (160 ng/mL),norfluoxetine(160 ng/mL), sertraline(100 ng/mL)and antipyrine (positive control ,ng/mL)were added into the maternal perfusate. The concen- 65324888 trations of fluoxe tine, norfluoxetine and sertrali ne were measured by above UFLC-MS/MS at 0,10,20,30,45,60,90,120,150 and 180 min of circulation ,and the placental permeability was calculated. RESULTS The linear range of fluoxetine ,norfluoxetine and sertraline were 5.00-500 ng/mL(all r> 0.990),and the lower limits of quantification were all 5.00 ng/mL. The RSDs of intra-day and inter-day were all less than 14.0%, and relative error ranged -9.6% to 14.7%. The relative error of stability test was -4.0% to 11.0%;the residual effect ,extraction method and matrix effect did not affect the quantitative analysis of the substance to be tested. Totally 31 perfusion model of human placenta under cardiopulmonary bypass were successfully established ,including 15 fluoxetine and norfluoxetine perfusion ,10 sertraline perfusion and 6 antipyrine perfusion. After 3 hours of perfusion ,the average placental permeability of fluoxetine , norfluoxetine and sertraline were (8.74 ± 1.67)% ,(10.70 ± 4.81)% ,(5.90 ± 1.25)% ,respectively. CONCLUSIONS The established UPLC-MS/MS is simple ,sensitive and accurate. It can be used for determination of fluoxetine ,norfluoxetine and sertraline in human placental perfusate. Fluoxetine ,norfluoxetine and sertraline can pass through the placenta ,but sertraline has a lower placental permeability.

5.
China Pharmacy ; (12): 146-152, 2022.
Article in Chinese | WPRIM | ID: wpr-913103

ABSTRACT

OBJECTIVE To establish the fingerprints of c ultivated and wild Anemarrhena asphodeloides,and to identify their differential components. METHODS Using an evaporative light-scattering detector , the high performance liquid chromatography combined with Similarity Evaluation System of TCM Chromatographic Fingerprint (2012 edition) were used to establish fingerprints of 14 batches of cultivated A. asphodeloides and 14 batches of wild medicinal materials ,and evaluate their similarity. The common peaks were identified by comparison with the chromatogram of the mixed control. At the same time ,the contents of components corresponding to common peaks in cultivated and wild A. asphodeloides were determined. The principal component analysis and orthogonal partial least squares discrimination analysis were adopted to identify differential components of them ,and compare the contents of them. RESULTS Among 28 batches of A. asphodeloides ,10 common peaks were found ,i.e. neomangiferin(peak 1),mangiferin(peak 2),isomangiferin(peak 3),timosaponin B Ⅱ(peak 7),timosaponin B Ⅲ(peak 8), timosaponin Ⅰ(peak 9),timosaponin A Ⅲ(peak 10). The similarities of fingerprints of samples with control fingerprint were no less than 0.963. The average total contents of seven components in cultivated and wild A. asphodeloides were 74.18 and 84.72 mg/g, respectively;there was statistical significance (P<0.05). The cultivated and wild A. asphodeloides could be divided into two categories. The differential components were neomangiferin ,mangiferin,timosaponin B Ⅱ and timosaponin A Ⅲ(VIP values were all higher than 1). The content of neomangiferin in cultivated products was significantly higher than that in wild products (P< 0.05),and the contents of mangiferin ,timosaponin B Ⅱ and ti mosaponin A Ⅲ were significantly lower than those in wild products (P<0.05). CONCLUSIONS Fingerprint of A. asphodeloides is established ,and differential components of cultivated and wild A. asphodeloides are identified primarily.

6.
Article in Chinese | WPRIM | ID: wpr-940303

ABSTRACT

ObjectiveTo establish a simple, fast and accurate method for locating the volatile oil in Angelicae Sinensis Radix based on frozen section and fluorescence imaging technology, and to reveal the distribution and accumulation of volatile oil in the roots of this herbal medicine. MethodAngelicae Sinensis Radix was used as the research material, the best frozen section conditions for the research material were established by comparing the effects of different cryoprotectants on the quality of frozen sections of Angelicae Sinensis Radix. The suitability of Sudan Ⅲ chemical staining and fluorescence localization for positioning the volatile oil were compared according to the loss of volatile oil and the complexity of operation process. ResultA new method for evaluating the quality of frozen sections of Angelicae Sinensis Radix was established. According to the evaluation equation, it was found that the highest score was obtained when the head, body and tail positions of Angelicae Sinensis Radix were treated with 20% glycerol, 15% glycerol and 20% sucrose, respectively. There was yellowish-brown oily substance in the oil chambers of phelloderm and secondary phloem, and oil canal of the secondary xylem of Angelicae Sinensis Radix, which could be stained orange red or orange yellow by Sudan Ⅲ, and there was green spontaneous fluorescence in the same part under the fluorescence microscope. ConclusionThe relatively complete section of Angelicae Sinensis Radix can be obtained after being treated with cryoprotectant. The volatile oil exists in the oil chambers of phelloderm and secondary phloem, and oil canal of the secondary xylem of Angelicae Sinensis Radix. This study can provide reference for observation of the accumulation sites of volatile oil in other plants.

7.
Article in Chinese | WPRIM | ID: wpr-935747

ABSTRACT

This article investigated an occupational chronic benzene poisoning incident that occurred in a sealing material factory in Hebei Province in September 2019, analyzed the clinical data of workers, to explore the causes of occupational chronic benzene poisoning, and summarize the diagnosis and treatment characteristics and treatment outcome. According to GBZ 68-2013 "Diagnosis of Occupational Benzene Poisoning", a total of 12 cases of occupational chronic benzene poisoning were diagnosed among the 20 workers, including 2 cases of occupational chronic mild benzene poisoning, 7 cases of moderate benzene poisoning, and 3 cases of severe benzene poisoning. Both mild and moderate poisoning patients had recovered after treatment. Severely poisoned patients had recovered more slowly, and the white blood cell count was still 2.0×10(9)-3.0×10(9)/L during the 1-year follow-up. This benzene poisoning incident was caused by illegal operations. The responsibility of the employer, the supervision of the administrative agency, and the awareness of personal protection of employees should be strengthened to avoid or reduce the occurrence of poisoning incidents and ensure the health of workers.


Subject(s)
Accidents, Occupational , Benzene/analysis , Chronic Disease , Humans , Leukocyte Count , Occupational Diseases/epidemiology , Occupational Exposure/analysis , Poisoning
8.
International Eye Science ; (12): 1357-1360, 2022.
Article in Chinese | WPRIM | ID: wpr-935012

ABSTRACT

AIM:To discuss the efficacy and safety of orthokeratology with reducing back optic zone diameter(5mm-BOZD)compared with conventional back optic zone diameter(6mm-BOZD)in the treatment of adolescent myopia.METHODS: A prospective randomized controlled trial was performed. There were 100 cases with 100 eyes of adolescent myopia(all right eye data were taken)selected from April 2016 to January 2019, the spherical degree was -1.00--5.00D. Then they were randomly divided into the two groups. The experimental group wore 5mm-BOZD orthokeratology, and the control group wore 6mm-BOZD orthokeratology. Their axis length(AL), spherical equivalent(SE), relative peripheral refraction(RPR), best corrected visual acuity(BCVA), uncorrected near visual acuity(NVA), Efron grading was applied to record the anterior segment of the eyes, corneal hysteresis(CH), corneal resistance factor(CRF), corneal-compensated intraocular pressure(IOPcc), average noninvasive Keratograph tear breakup time(NIKBUTav)and higher order aberration(RMSh) were compared between the two groups during the 1a treatment period.RESULTS: After 1a of treatment, the AL in experimental group increased 0.05±0.05mm,while it increased 0.15±0.05mm(t=-8.949, P<0.001)in control group. The SE in experimental group increased -0.18±0.27D,while it increased-0.42±0.35D(t=3.609, P=0.001)in control group. There were statistical differences in RPR changes at N30°, N20° and T30°sites between the two groups(P<0.05). There were no statistical differences in BCVA,NVA,Efron grade,CH,CRF,IOPcc,NIKBUTav and RMSh between the two groups(P>0.05).CONCLUSION:Reducing back optic zone diameter orthokeratology can correct adolescent myopia safely and more effectively during the observation period.

9.
Article in Chinese | WPRIM | ID: wpr-934478

ABSTRACT

Objective:To investigate the efficacy and safety of dual wavelength pulsed dye laser combined with 30% supramolecular salicylic acid in the treatment of moderate and severe facial acne.Methods:Sixty patients with moderate and severe acne that visited the Dermatology Department of the First Affiliated Hospital of Chongqing Medical University from May 2020 to January 2021, were selected and randomly divided into observation group and control group, with 30 patients in each group. The observation group was given dual-wavelength pulsed dye laser combined with 30% supramolecular salicylic acid. 30% supramolecular salicylic acid was used once every two weeks, for a total of six times. Dual-wavelength pulsed dye laser was given once a month, for a total of three times. The control group was only given dual-wavelength pulsed dye laser, once a month, a total of three times.Results:Twenty-two cases (73.33%) in the observation group were effective, while 14 cases (46.67%) in the control group were effective. The efficacy of the observation group was better than that of the control group, and the difference was statistically significant (χ 2=4.44, P<0.05). There were no obvious adverse reactions in both groups. Conclusions:Dual-wavelength pulsed dye laser combined with 30% supramolecular salicylic acid is effective and safe in the treatment of moderate and severe facial acne, which is worth popularizing.

10.
Article in Chinese | WPRIM | ID: wpr-930996

ABSTRACT

Objective:To study the incidence, clinical features and genetic mutation profiles of neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) using screening strategy.Methods:From September 2015 to September 2020, neonates in Xuzhou area were prospectively screened for genetic metabolic diseases using tandem mass spectrometry. Suspected infants were further confirmed using urinary organic acid test and SLC25A13 gene mutation analysis. The clinical manifestations, biochemical and gene mutation results, treatment and prognosis of the confirmed cases were analyzed.Results:A total of 468,494 live-birth newborns were screened with 112 cases suspected and 95 cases received urinary organic acid test and SLC25A13 gene mutation analysis. 13 cases of NICCD were diagnosed with a prevalence of 1/36,038. Most confirmed cases presented with delayed disappearance of neonatal jaundice, feeding difficulties and poor weight gain. Biochemical changes included increased bile acid, abnormal liver enzymes, increased alpha-fetoprotein, hypoglycemia, decreased hemoglobin, abnormal coagulation function and increased blood ammonia. Tandem mass spectrometry showed increased citrulline, methionine, arginine, tyrosine and phenylalanine, and in some cases with slightly increased acylcarnitine. Urine organic acid analysis mainly showed increased 4-hydroxyphenyllactic acid and 4-hydroxyphenylpyruvate. All confirmed cases received genetic mutation tests and a total of 13 mutation loci were detected, including c.852_855delTATG, c.511dupG, c.1638_1660dup, IVS16ins3kb, c.1078C>T, c. 615+5G>A, c.742G>A, c.44G>A, c.1311+1G>A, c.1399C>T, c.889G>T, c.1177+1G>A, c.1841+3_1841+4del, among which, c.852_855delTATG was the most common one. A total of 5 novel mutation loci were discovered in this study with c.1841+3_1841+4del, c.511dupG and c.889G>T predicted as pathogenic variants. Special formula of lactose-free and fortified medium-chain triglyceride (MCT) were used in confirmed cases and most of the symptoms were relieved within 1 year and abnormal indicators significantly improved.Conclusions:The prevalence of NICCD in Xuzhou was 1/36,038. c.852_855delTATG mutation is the most frequent one. Five novel mutation loci are discovered, expanding the SLC25A13 gene mutation spectrum. Most infants with NICCD have a good prognosis, requiring early diagnosis, treatment and life-long follow-up.

11.
Acta Pharmaceutica Sinica B ; (6): 907-923, 2022.
Article in English | WPRIM | ID: wpr-929334

ABSTRACT

Although several artificial nanotherapeutics have been approved for practical treatment of metastatic breast cancer, their inefficient therapeutic outcomes, serious adverse effects, and high cost of mass production remain crucial challenges. Herein, we developed an alternative strategy to specifically trigger apoptosis of breast tumors and inhibit their lung metastasis by using natural nanovehicles from tea flowers (TFENs). These nanovehicles had desirable particle sizes (131 nm), exosome-like morphology, and negative zeta potentials. Furthermore, TFENs were found to contain large amounts of polyphenols, flavonoids, functional proteins, and lipids. Cell experiments revealed that TFENs showed strong cytotoxicities against cancer cells due to the stimulation of reactive oxygen species (ROS) amplification. The increased intracellular ROS amounts could not only trigger mitochondrial damage, but also arrest cell cycle, resulting in the in vitro anti-proliferation, anti-migration, and anti-invasion activities against breast cancer cells. Further mice investigations demonstrated that TFENs after intravenous (i.v.) injection or oral administration could accumulate in breast tumors and lung metastatic sites, inhibit the growth and metastasis of breast cancer, and modulate gut microbiota. This study brings new insights to the green production of natural exosome-like nanoplatform for the inhibition of breast cancer and its lung metastasis via i.v. and oral routes.

12.
Acta Pharmaceutica Sinica B ; (6): 76-91, 2022.
Article in English | WPRIM | ID: wpr-929282

ABSTRACT

DNA is a biological polymer that encodes and stores genetic information in all living organism. Particularly, the precise nucleobase pairing inside DNA is exploited for the self-assembling of nanostructures with defined size, shape and functionality. These DNA nanostructures are known as framework nucleic acids (FNAs) for their skeleton-like features. Recently, FNAs have been explored in various fields ranging from physics, chemistry to biology. In this review, we mainly focus on the recent progress of FNAs in a pharmaceutical perspective. We summarize the advantages and applications of FNAs for drug discovery, drug delivery and drug analysis. We further discuss the drawbacks of FNAs and provide an outlook on the pharmaceutical research direction of FNAs in the future.

13.
Article in Chinese | WPRIM | ID: wpr-928389

ABSTRACT

OBJECTIVE@#To analyze the clinical features and genetic basis for a Chinese pedigree affected with hereditary dyschromatosis symmetrica hereditaria (DSH).@*METHODS@#Peripheral blood samples of the proband and his mother were collected and subjected to PCR and Sanger sequencing.@*RESULTS@#The patient has conformed to the typical pattern of DSH and manifested with hyperpigmentation, hypo- and hyperpigmentation spots on the back of hands, feet and face. Sanger sequencing confirmed that the proband and his mother have both harbored heterozygous splicing variant c.2762+1G>T in exon 9 of the ADAR gene, which was unreported previously. The same variant was not detected among 100 healthy controls. According to the guidelines of the American College of Medical Genetics and Genomics, the variant was predicted to be pathogenic (PVS1+PM2+PP4).@*CONCLUSION@#The c.2762+1G>T variant of the ADAR gene probably underlay the DSH in this pedigree. Above finding has enriched the spectrum of ADAR gene mutations.


Subject(s)
Adenosine Deaminase/genetics , China , Humans , Mutation , Pedigree , Pigmentation Disorders/congenital , RNA-Binding Proteins/genetics
14.
Article in Chinese | WPRIM | ID: wpr-928301

ABSTRACT

OBJECTIVE@#To investigate the surgical skills and clinical curative results of arthroscopic treatment of ankle instability combined with anteromedial impingement syndrome.@*METHODS@#From February 2019 to August 2020, 13 patients with ankle instability combined with anteromedial impingement were retrospectively analyzed. There were 10 males and 3 females with age of (40.0±15.1) years old. The course of disease was(44.1±33.2) months. All patients had history of ankle sprain. MRI showed the injury of anterior talofibular ligament. All patients had anteromedial pain and pressing pain when ankle dorsiflexion. All patients were treated with ankle debridement and Brostr?m-Gould surgery under ankle arthroscopic. Postoperative results were evaluated by VAS(visual analogue scale) and AOFAS-AH(American Orthopaedic Foot and Ankle Society Ankle-Hindfoot scale, AOFAS-AH).@*RESULTS@#All 13 patients completed the surgery successfully with an operative time of 60 to 90 minutes. All the surgical incisions healed by first intention, and no complications such as incision infection, skin necrosis and neurovascular injury. Follow-up time was (18.1±4.7) months. At the latest follow-up, the VAS score was 1.2±1.1, which was significantly lower than the preoperative score 4.8±1.5 (P<0.05);the AOFAS-AH score 94.2±5.1 was significantly higher than the preoperative score 65.5±11.5 (P<0.05). The AOFAS-AH score at the final follow-up ranged from 84 to 100. All patients walked with normal gait without ankle instability or impingement recurrence.@*CONCLUSION@#Ankle anteromedial impingement syndrome combined with ankle instability is easy to be ignored clinically. Such kind of anteromedial impingement syndrome is mostly related to osteophyte at dorsal medial talar neck. Arthroscopic treatment of ankle instability combined with anteromedial impingement syndrome has satisfactory curative effect with safety and minimal injury.


Subject(s)
Adult , Ankle , Arthroscopy/methods , Female , Humans , Joint Instability/surgery , Male , Middle Aged , Retrospective Studies , Treatment Outcome , Young Adult
15.
Article in Chinese | WPRIM | ID: wpr-928055

ABSTRACT

This study established a method for rapid quantification of terpene lactone, bilobalide, ginkgolide C, ginkgolide A and ginkgolide B in the chromatographic process of Ginkgo Folium based on near infrared spectroscopy(NIRS). The effects of competitive adaptive reweighting sampling(CARS), random frog(RF), and synergy interval partial least squares(siPLS) on the performance of partial least squares regression(PLSR) model were compared to the reference values measured by HPLC. Among them, the correlation coefficients of prediction(Rp) of validation sets of terpene lactone, bilobalide, and ginkgolide C were all higher than 0.98, and the relative standard errors of prediction(RSEPs) were 5.87%, 6.90% and 6.63%, respectively. Aiming at ginkgolide A and ginkgolide B with relatively low content, the genetic algorithm joint extreme learning machine(GA-ELM) was used to establish the optimized quantitative analysis model. Compared with CARS-PLSR model, the CARS-GA-ELM models of ginkgolide A and ginkgolide B exhibited a reduction in RSEP from 15.65% to 8.52% and from 21.28% to 10.84%, respectively, which met the needs of quantitative ana-lysis. It has been proved that NIRS can be used for the rapid detection of various lactone components in the chromatographic process of Ginkgo Folium.


Subject(s)
Chromatography, High Pressure Liquid , Ginkgo biloba , Lactones/analysis , Least-Squares Analysis , Spectroscopy, Near-Infrared/methods
16.
Article in English | WPRIM | ID: wpr-927640

ABSTRACT

OBJECTIVE@#We wanted to investigate the radial peripapillary capillary (RPC) network in patients with Bietti crystalline dystrophy (BCD).@*METHODS@#We compared RPC densities in the disk and different peripapillary regions, obtained using optical coherence tomography angiography in 22 patients with BCD (37 eyes) and 22 healthy subjects (37 eyes). The BCD group was then divided into Stage 2 and Stage 3 subgroups based on Yuzawa staging, comparing the RPC densities of the two.@*RESULTS@#The disk area RPC density was 38.8% ± 6.3% in the BCD group and 49.2% ± 6.1% in the control group ( P < 0.001), and peripapillary region RPC density was significantly lower in the BCD group than in the control group (49.1% ± 4.7% and 54.1% ± 3.0%, respectively, P < 0.001). There were no significant RPC density differences between the tempo quadrant and inside disk of Stages 2 and 3 subgroups; the other areas showed a significantly lower RPC density in Stage 3 than in Stage 2 BCD.@*CONCLUSION@#The BCD group RPC density was significantly lower than the control group. The reduction of RPC density in the tempo quadrant occurred mainly in the Stage 1 BCD. In contrast, the reduction of RPC density in superior, inferior, and nasal quadrants occurred mainly in Stage 2.


Subject(s)
Adult , Aged , Angiography , Corneal Dystrophies, Hereditary/physiopathology , Female , Humans , Male , Microvascular Density , Microvessels/physiopathology , Middle Aged , Retinal Diseases/physiopathology , Retinal Vessels/physiopathology , Tomography, Optical Coherence
17.
Article in Chinese | WPRIM | ID: wpr-924179

ABSTRACT

After the promulgation and implementation of the Vaccine Administration Law of the People’s Republic of China, the compensation of suspected adverse reactions in China is to be reformed and innovated. There have been attempts at compensation through government finance and insurance, but there has been no precedent for a fund of vaccine-related compensation in China, which means that this could be a new method of solving disputes of compensation for vaccine-related incidences and enhancing public confidence in vaccination. It is suggested that under the current system, we can select a province as a pilot to explore the fund compensation mechanism. The fund comes from special financial allocation, special taxation of vaccine enterprises, fund investment income, charitable donation and other channels. Through a special fund management organization, the independent identification and compensation process can be realized, so as to shorten the current compensation procedure, improve the amount of compensation, ultimately protect the interests of all parties, and promote the steady development of vaccination.

18.
International Eye Science ; (12): 849-852, 2022.
Article in Chinese | WPRIM | ID: wpr-923426

ABSTRACT

@#AIM: To investigate the clinical effect of posterior capsulotomy in diabetic retinopathy with silicone oil removal combined with cataract surgery.<p>METHODS: A retrospective analysis that collected clinical data of 83 cases(83 eyes)diagnosed as diabetic retinopathy and silicone oil filled eyes with cataract and treated in our hospitalfrom January 2019 to February 2020. They were randomly divided into two groups. The experimental group consisted 41 eyes received silicone oil removal and posterior capsulotomy combined with cataract surgery; The rest 42 eyes were in control group, who received silicone oil removal combined with cataract surgery. At 6mo after surgery, the best corrected visual acuity, posterior capsular opacification, and floaters were evaluated between the two groups to confirm the advantages of posterior capsulotomy in combined cataract surgery with silicone oil removal for diabetic retinopathy.<p>RESULTS: At 6mo after surgery, the best corrected visual acuity in experimental group was better than control group(<i>P</i><0.05); There were significant differences between the two groups in the posterior capsular opacification, and floaters,experimental group is lower than control group(<i>P</i><0.05). There was no significant difference in intraocular pressure compared to preoperative between the two groups, and no significant difference in retinal detachment, vitreous hemorrhage and intraocular lens deviationafter operation(<i>P</i>>0.05). <p>CONCLUSION: Posterior capsulotomy is safe and reliable in the application of silicone oil removal combined with cataract surgery for diabetic retinopathy, and can effectively avoid the occurrence of posterior capsular opacification.

19.
Acta Pharmaceutica Sinica ; (12): 453-459, 2022.
Article in Chinese | WPRIM | ID: wpr-922914

ABSTRACT

Based on near infrared spectroscopy and high performance liquid chromatography, this paper established the regression relationship between near infrared spectroscopy and index component content of Huoxiang Zhengqi oral liquid, so as to realize the rapid detection of index component content based on near infrared spectroscopy. Magnolol, honokiol and hesperidin were used as the quality indexes of Huoxiang Zhengqi oral liquid. After using the first derivative and normalization pretreatment method, characteristic variables were screened by CARS, and the correction model was finally established by partial least-squares regression (PLSR) method. The method accuracy was evaluated with the external validation, and the prediction results were tested for significance. The results indicated that when the near infrared spectrum was scanned through the bottle, the model's correlation coefficients of prediction (Rp) were higher than 0.99, the root mean square errors of the prediction models (RMSEP) were all less than 0.008 4, and the relative standard errors of prediction set (RSEP) were all less than 2.83%. There was no significant difference in the predicted results between these two kinds of model. The models established in the non-destructive way have good performance and high prediction accuracy. The rapid and nondestructive way has application value in the quality control of Huoxiang Zhengqi oral liquid.

20.
International Eye Science ; (12): 770-775, 2021.
Article in Chinese | WPRIM | ID: wpr-875996

ABSTRACT

@#AIM: To identify the related biomarkers, coding genes, transcription factors and biological pathways in diabetic retinopathy(DR)<i>via</i> analysis of the gene expression database of C57BL/KsJ-db/db mice.<p>METHODS: We selected and obtained microarray datasets from the Gene Expression Omnibus database to identify different expressed genes in retinas with db/db mouse model. Integrated bioinformatic analysis was used to clarify biological functions of the identified genes, including Gene Ontology(GO), the construction of a protein-protein interaction network, transcription factor, and gene set enrichment analysis.<p>RESULTS:Totally 38 genes were found upregulated accompanied by down-regulation of 28 genes in the retina of db/db mouse. GO analysis showed that the down-regulated genes were enriched in eye development whereas there was no significant KEGG pathway identified by the differentially expressed genes. The protein-protein interaction network revealed seven hub genes involved in DR. Moreover, GSEA showed 12 up-regulated pathways with 6 down-regulated pathways(<i>P</i><0.1), predicting up-regulation of 5 transcription factors(TFs)and down-regulation of 8 TFs along with their binding sites. <p>CONCLUSION: The pathways and genes discovered herewith are beneficial to clarify the mechanism of DR and the part of transcription factors identified during the study, such as Runx2, Ppara, MafA, Gata2 and Hoxa13, may provide promising targets for future noval treatment of DR.

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