OBJECTIVE To assess the efficacy， safety and cost-effectiveness of tenecteplase in the treatment of acute ischemic stroke， and to provide a basis for clinical rational drug use and related decision-making. METHODS The related literature in the PubMed， the Cochrane Library， CNKI， Wanfang data and health technology assessment （HTA） databases were searched from the establishment of the database to June 30th， 2024. Systematic reviews/meta-analyses， pharmacoeconomic studies and HTA reports on tenecteplase in the treatment of acute ischemic stroke were collected. After data extraction and quality assessment， descriptive analysis of the included studies was carried out. RESULTS A total of 31 articles were included， involving 28 systematic reviews/ meta-analysis and 3 pharmacoeconomic studies. In terms of effectiveness， compared with alteplase， tenecteplase （0.25 mg/kg） could significantly increase the early neurological improvement； the 90 d excellent neurological recovery rate， 90 d good neurological recovery rate， and recanalization were not inferior to alteplase. For safety， compared with alteplase， tenecteplase did not increase the incidence of hemorrhage， symptomatic intracranial hemorrhage， 3-month mortality， or intracranial hemorrhage. In terms of cost-effectiveness， foreign research results showed that tenecteplase had economic advantages over alteplase. CONCLUSIONS Compared with alteplase， tenecteplase is effective and safe in the treatment of acute ischemic stroke， and it is cost-effective.

Objective To compare and explore the differences between the eight batches of drugs in the centralized procurement list and the 2018 edition of the national essential medicine list,and to provide reference for updating and improving the national essential medicine list and the national centralized procurement list of drugs.Methods The category,generic name variety,specification,and other information of drugs included in the centralized drug procurement were collected and compared with the 2018 edition of the national essential medicine list,and the reasons for differences were analyzed.Results A proportion of 39%of centralized procurement drugs were listed in national essential medicines.Forty pharmacological classifications were not involved in the drugs of centralized procurement.Only anticoagulant and thrombolytic drugs with dual attributes accounted for a smaller variety proportion than the specification proportion.Conclusion There are some differences between the centralized procurement list and the 2018 edition of the national essential medicine list,which have some rationality,but also some problems to be solved.

Objective:To explore the correlation between gross tumor volume (GTV) and prognosis of patients with esophageal cancer undergoing radiotherapy.Methods:A retrospective cohort study was conducted. The clinical data of 130 newly diagnosed esophageal squamous cell carcinoma patients who received radiotherapy at Shanxi Province Cancer Hospital from February 2016 to June 2018 were analyzed. All patients underwent conformal intensity-modulated radiotherapy (IMRT) for esophageal lesions. Pinnacle planning system was used to calculate GTV, and GTV classification was performed: GTV ≤ 30 cm 3 was classified as grade Ⅰ, GTV > 30 cm 3 and ≤ 60 cm 3 was classified as grade Ⅱ, and GTV > 60 cm 3 was classified as grade Ⅲ. Kaplan-Meier method was used to analyze the progression free survival (PFS) and overall survival (OS) of patients, and the multivariate Cox proportional hazards model was used to analyze the independent influencing factors of poor PFS and OS. Results:The median age of 130 patients [ M ( Q1, Q3)] was 59 years old (56 years old, 69 years old), with 90 males and 40 females; Karnofsky performance scores were all ≥ 70 points; tumors were located in the neck in 10 cases, upper chest in 34 cases, middle chest in 55 cases, and lower chest in 31 cases; clinical staging for esophageal carcinoma treated with non-surgical methods: 3 cases in stage Ⅰ, 37 cases in stage Ⅱ, 79 cases in stage Ⅲ, and 11 cases in stage Ⅳ; 25 cases were classified as GTV grade Ⅰ, 62 cases as GTV grade Ⅱ, and 43 cases as GTV grade Ⅲ. The 1-year PFS rate of 130 patients was 55%, the 2-year PFS rate was 19%, and the median PFS time was 14 months; the 1-year OS rate was 76%, the 2-year OS rate was 32%, and the median OS time was 20 months. PFS and OS of patients in stages Ⅰ+Ⅱ, Ⅲ and Ⅳ deteriorated sequentially, and the differences between the three groups were statistically significant (both P < 0.001); the PFS and OS of patients with GTV grades Ⅰ, Ⅱ and Ⅲ deteriorated sequentially, and the differences in PFS and OS between the three groups were statistically significant (both P < 0.001); there were no statistically significant differences in PFS and OS among patients of different genders, ages, and tumor locations (all P > 0.05). The results of multivariate Cox regression analysis showed that high clinical staging (stage Ⅳ vs. stage Ⅰ, HR = 8.34, 95% CI: 3.88-17.94, P < 0.001) and high GTV grading (grade Ⅱ vs. grade Ⅰ: HR = 6.81, 95% CI: 3.39-13.67, P < 0.001; grade Ⅲ vs. grade Ⅰ: HR = 23.97, 95% CI: 10.81-53.14, P < 0.001) were independent risk factors for poor PFS; high clinical staging (stage Ⅳ vs. stage Ⅰ: HR = 9.94, 95% CI: 4.50-21.97, P < 0.001) and high GTV grading (grade Ⅱ vs. grade Ⅰ: HR = 13.55, 95% CI: 5.58-32.91, P < 0.001; grade Ⅲ vs. grade Ⅰ: HR = 35.01, 95% CI: 13.57-90.34, P < 0.001) were independent risk factors for poor OS. Conclusions:GTV is associated with the prognosis of patients with esophageal cancer undergoing radiotherapy.

Objective:To explore the clinical value of the geriatric potentially inappropriate medication(PIM)evaluation system in elderly inpatients.Methods:As a prospective cohort study, 203 elderly inpatients with polypharmacy were randomly divided into the control group and experimental group.Geriatric PIM evaluation system(based on the criteria for judging potential inappropriate drug use in Chinese elderly 2017 edition)on wechat platform was applied to patients of experimental group.During the 6 months, the number of elderly syndromes, types of drugs, the days in hospitalization, readmission rates and all-cause mortality were compared between two groups.Results:The age of 203 elderly inpatients ranged from 60 to 94(77.30±10.34)years, including 121 males and 82 females.The morbidity proportion of top five diseases were 69.95%(142/203)in cerebral infarction(non-acute phase), 62.07%(126/203)in hypertension, 24.14%(49/203)in coronary heart disease, 9.85%(20/203)in atrial fibrillation, and 6.40%(13/203)in cardiac insufficiency.The 97.53%(198/203)of elderly hospitalized patients had at least one senile syndrome, the average was 4.3±2.0.Insomnia, fall and frailty accounted for 32.87%(15/198), 28.45%(56/198)and 13.66%(27/198)respectively.Compared with the control group, the average length of stay in hospital in the experimental group significantly decreased[(16.38±4.29) vs.(21.32±6.10)d, t=2.438、 P=0.025], the number of senile syndrome, the score of fall, weakness and the re-admission rate were also decreased significantly(3.11±2.14 vs.4.32±1.50, t=0.854、 P=0.032; 6.19±1.35 vs.8.61±3.22, t=4.078、 P=0.044; 3.94±1.92 vs.5.65±1.34, t=2.843、 P=0.038; 9.81%(10/102) vs.1.98%(2/101), χ2=4.772、 P=0.029), and the frequency of PIM was significantly different between two groups(417.36±49.21 vs.210.25±38.23, t=2.136、 P=0.034). Conclusions:After making the drug adjustment on the elderly inpatients with multiple drugs, PIM evaluation system for the elderly are able to reduce the incidence of geriatric syndrome, shorten the length of stay in hospital, improve the rational use of drugs, and enhance the quality of life of the elderly patients.

OBJECTIVE: To carry out mutation analysis and prenatal diagnosis for a family affected with primary carnitine deficiency. METHODS: Genomic DNA of the proband was extracted from peripheral blood sample 10 days after birth. The 10 exons and intron/exon boundaries of the SLC22A5 gene were subjected to PCR amplification and Sanger sequencing. The proband's mother was pregnant again two years after his birth. Fetal DNA was extracted from amniocytes and subjected to PCR and Sanger sequencing. RESULTS: Tandem mass spectrometric analysis of the proband revealed low level of plasma-free carnitine whilst organic acids in urine was normal. Compound heterozygous SLC22A5 mutations c.1195C>T (inherited from his father) and c.517delC (inherited from his mother) were detected in the proband. Prenatal diagnosis has detected no mutation in the fetus. The plasma-free carnitine was normal after birth. CONCLUSION Appropriate genetic testing and prenatal diagnosis can prevent further child with carnitine deficiency. The identification of c.517delC, a novel mutation, enriched the spectrum of SLC22A5 mutations.
Cardiomyopathies ; genetics ; Carnitine ; deficiency ; genetics ; Child, Preschool ; DNA Mutational Analysis ; Female ; Humans ; Hyperammonemia ; genetics ; Muscular Diseases ; genetics ; Mutation ; Pregnancy ; Prenatal Diagnosis ; Solute Carrier Family 22 Member 5 ; genetics

OBJECTIVE: To identify potential mutation in a child clinically diagnosed as Noonan syndrome and to provide genetic counseling and prenatal diagnosis for his family. METHODS: Genomic DNA was extracted from peripheral blood samples of the patient and his parents, and amniotic fluid was taken from the mother during the second trimester. Next generation sequencing (NGS) was used to screen potential mutations from genomic DNA. Suspected mutation was verified by Sanger sequencing. RESULTS: A heterozygous c.4A>G (p.Ser2Gly) mutation of the SHOC2 gene was identified in the patient but not among other family members including the fetus. CONCLUSION The Noonan syndrome is probably caused by the c.4A>G mutation of the SHOC2 gene. NGS is helpful for the diagnosis of complicated genetic diseases. SHOC2 gene mutation screening is recommended for patient suspected for Noonan syndrome.
Child ; Female ; Genetic Testing ; High-Throughput Nucleotide Sequencing ; Humans ; Intracellular Signaling Peptides and Proteins ; Mutation ; Noonan Syndrome ; Pregnancy ; Prenatal Diagnosis

Objective: To analyze variations of TYR and P genes among 14 patients with clinically diagnosed oculocutaneous albinism. Methods: Potential variations of the TYR and P genes were detected by Sanger sequencing. Novel variations were predicted with bioinformatics software including SIFT and PolyPhen-2. Results: No variation was found in the TYR gene, while 9 types of variations were found in the P gene among the 14 patients, which included c. 803-3C>G (7/26), c. 1327G>A (p.Val443Ile) (5/26), c. 632C>T (p.Pro211Leu) (4/26), c. 1832T>C (p.Leu611Pro) (3/26), c. 1349C>A (p.Thr450Lys) (2/26), c. 2363C>T (p.Ser788Leu) (2/26), c. 2228C>T (p.Pro743Leu) (1/26), c. 1525A>G(p.Thr509Ala) (1/26), and c. 1349C>T(p.Thr450Met) (1/26). Only 1 heterozygous variation was detected in 2 families. c. 2363C>T (p.Ser788Leu), c. 1832T>C (p.Leu611Pro) and c. 1525A>G (p.Thr509Ala) were not reported previously and predicted as "harmful" to the protein function. Conclusion The main type of ocular albinism is oculocutaneous albinism type Ⅱ in Liuzhou region, where the most common variations of the P gene were c. 803-3C>G and c. 1327G>A (p.Val443Ile). Above finding has enriched the variation spectrum of the P gene.

OBJECTIVE: To explore the molecular pathogenesis for a pedigree affected with hypocalcemia secondary to hypomagnesemia. METHODS: Sanger sequencing was used to detect potential variant of the TRPM6 gene in the patient and their parents. RESULTS: The results showed that the patient has carried novel homozygous c.3311C>T (p.Pro1104Leu) variant of the TRMP6 gene, for which both of his parents were heterozygous carriers. Analysis of protein functions using software predicted high risk of pathogenicity. CONCLUSION The homozygous c.3311C>T (p.Pro1104Leu) variant of the TRPM6 gene probably underlies the disease in this patient.
Heterozygote ; Humans ; Hypocalcemia ; genetics ; Magnesium ; Magnesium Deficiency ; genetics ; Male ; Pedigree ; TRPM Cation Channels ; genetics

Objective To study the clinical efficacy of sodium cantharidinate and vitamin B6 injection combined with concurrent chemoradiotherapy in treatment of locally advanced nasopharyngeal carcinoma (LA-NPC).Methods 115 patients with LA-NPC in Shanxi Cancer Hospital were randomly assigned to observation group (61 cases) and control group (54 cases) from February 2014 to April 2016.The patients in the observation group were treated with sodium cantharidate and vitamin B6 injection combined with concurrent chemoradiotherapy.The patients in the control group were treated with concurrent chemoradiotherapy.The differences between the two groups were compared in respect of recent curative effect,the quality of life (QOL) and the adverse reactions.Results The recent effective rate was 93.44 ％ (57/61) in the observation group and 79.63 ％ (43/54) in the control group,and there was significant difference between the two groups (x2 =4.818,P =0.049).The improvement rate of QOL was 73.77 ％ (45/61) in the observation group and 53.70 ％ (29/54) in the control group,and there was significant difference between the two groups (x2 =5.028,P =0.032).The incidence rates of oral cavity mucous membrane inflammation,hematology toxicity,pharynx and esophagus adverse reactions,the gastrointestinal tract adverse reactions and skin fibrosis in the observation group were lower than those in the control group,and there were significant differences between the two groups (all P ＜ 0.05).Conclusion The recent effect of sodium cantharidinate and vitamin B6 injection combined with concurrent chemoradiotherapy on the patients with LA-NPC is obvious.The comprehensive treatment can also reduce adverse reactions and improve the QOL.

Objective To study genotypes in nonsyndromic hearing loss (NSHL ) patients from Guangxi Zhuang Autonomous Region hearing speech rehabilitation center using DNA microarray in combination with Sanger sequencing .Methods Deaf patients received routine physical and otorhinolaryngoloical examinations as well as pure tone autiometry .Brainstem auditory evoked potential test was performed in uncooperative children .Blood samples were obtained from a total of 136 patients ,male 81 ,female 55 ,age from one year five month to seventeen ,having nonsyndromic hearing loss .Genomic DNA was extracted and then 9 hot mutation spots in 4 susceptibility genes were detected by DNA microarray .GJB2 and SLC26A was further detected by Sanger sequencing in the patients with negative results and heterozygotes .Results Among the 136 patients with nonsyndromic hearing loss ,20 cases were positive for GJB2 gene ,SLC26A4 gene or mitochondrial 12SrRNA gene mutations .There were 14 .71% (20/136)patients were positive for hot mutation spots in the deafness related genes ,25% (34/136)patients carried muta‐tions of deafness related genes using DNA microarray in combination with Sanger sequencing .Six SLC26A4 rare mutations (c .259G> T ,c .754C> T ,c .1229C> T ,c .1548_1549insC ,c .1705+5A>G and c .2086C> T) were de‐tected by Sanger sequencing .c .235delC was the most common mutation in GJB2 gene .c .919-2A>G ,c .754C> T and c .1229C> T were the common mutations in SLC26A4 gene .The mutation rate of GJB2 and SLC26A4 was 38 . 24% .and 58 .82% ,respectively .Conclusion Prevalent deafness-associated gene mutations in the nine loci studied were less frequently detected in nonsyndromic hearing loss patients from Guangxi Zhuang Autonomous Region hear‐ing speech rehabilitation center .It can improve the detection rate of deafness gene mutations by using gene microar‐ray in combination with Sanger sequencing .GJB2 and SLC26A4 are the common causative genes .