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1.
Zhonghua Xue Ye Xue Za Zhi ; 45(3): 215-224, 2024 Mar 14.
Artículo en Chino | MEDLINE | ID: mdl-38716592

RESUMEN

Objective: To retrospectively analyze the treatment status of tyrosine kinase inhibitors (TKI) in newly diagnosed patients with chronic myeloid leukemia (CML) in China. Methods: Data of chronic phase (CP) and accelerated phase (AP) CML patients diagnosed from January 2006 to December 2022 from 77 centers, ≥18 years old, and receiving initial imatinib, nilotinib, dasatinib or flumatinib-therapy within 6 months after diagnosis in China with complete data were retrospectively interrogated. The choice of initial TKI, current TKI medications, treatment switch and reasons, treatment responses and outcomes as well as the variables associated with them were analyzed. Results: 6 893 patients in CP (n=6 453, 93.6%) or AP (n=440, 6.4%) receiving initial imatinib (n=4 906, 71.2%), nilotinib (n=1 157, 16.8%), dasatinib (n=298, 4.3%) or flumatinib (n=532, 7.2%) -therapy. With the median follow-up of 43 (IQR 22-75) months, 1 581 (22.9%) patients switched TKI due to resistance (n=1 055, 15.3%), intolerance (n=248, 3.6%), pursuit of better efficacy (n=168, 2.4%), economic or other reasons (n=110, 1.6%). The frequency of switching TKI in AP patients was significantly-higher than that in CP patients (44.1% vs 21.5%, P<0.001), and more AP patients switched TKI due to resistance than CP patients (75.3% vs 66.1%, P=0.011). Multi-variable analyses showed that male, lower HGB concentration and ELTS intermediate/high-risk cohort were associated with lower cytogenetic and molecular responses rate and poor outcomes in CP patients; higher WBC count and initial the second-generation TKI treatment, the higher response rates; Ph(+) ACA at diagnosis, poor PFS. However, Sokal intermediate/high-risk cohort was only significantly-associated with lower CCyR and MMR rates and the poor PFS. Lower HGB concentration and larger spleen size were significantly-associated with the lower cytogenetic and molecular response rates in AP patients; initial the second-generation TKI treatment, the higher treatment response rates; lower PLT count, higher blasts and Ph(+) ACA, poorer TFS; Ph(+) ACA, poorer OS. Conclusion: At present, the vast majority of newly-diagnosed CML-CP or AP patients could benefit from TKI treatment in the long term with the good treatment responses and survival outcomes.


Asunto(s)
Dasatinib , Mesilato de Imatinib , Leucemia Mielógena Crónica BCR-ABL Positiva , Inhibidores de Proteínas Quinasas , Humanos , Estudios Retrospectivos , Leucemia Mielógena Crónica BCR-ABL Positiva/tratamiento farmacológico , Leucemia Mielógena Crónica BCR-ABL Positiva/diagnóstico , Inhibidores de Proteínas Quinasas/uso terapéutico , Mesilato de Imatinib/uso terapéutico , Dasatinib/uso terapéutico , China , Resultado del Tratamiento , Masculino , Femenino , Pirimidinas/uso terapéutico , Adulto , Persona de Mediana Edad
2.
Zhonghua Liu Xing Bing Xue Za Zhi ; 45(3): 464-472, 2024 Mar 10.
Artículo en Chino | MEDLINE | ID: mdl-38514325

RESUMEN

Objective: To evaluate the cost-effectiveness of hepatitis C screening in general population in China, and find the age group in which hepatitis C screening can achieve the best cost-effectiveness. Methods: A decision-Markov model was constructed by using software TreeAge pro 2019 to simulate the outcomes of hepatitis C disease pregression of 100 000 persons aged 20-59 years. The cost-effectiveness of the strategies were evaluated from societal perspectives by using incremental cost-effectiveness ratio (ICER) and net monetary benefit (NMB). One-way sensitivity analysis and probability sensitivity analysis were used to evaluate the uncertainty of parameters and model. Results: Hepatitis C screening was cost-effective in people aged 20- 59 years and the cost effectiveness was best in age group 40-49 years. Compared with non-screening strategy of hepatitis C in people aged 20-59 years, the incremental cost was 161.24 yuan, the incremental utility was 0.003 6 quality adjusted life years (QALYs)/per person, ICER was 45 197.26 yuan/QALY, ICER was less than the willing payment threshold. The ICER and NMB in all age groups were 42 055.06-53 249.43 yuan/QALY and 96.52-169.86 yuan/per person. Hepatitis C screening in people aged 40-49 years had the best cost-effectiveness. The results of one-way sensitivity analysis showed that the discount rate, anti-HCV detection cost, anti-HCV infection rate and the cost of direct antiviral agents were the main factors influencing economic evaluation. The results of the probability sensitivity analysis indicated that the model analysis was stable. Conclusions: Implementing hepatitis C screening based on medical institutions is cost-effective in people aged 20- 59 years, especially in those aged 40-49 years. Implementing the HCV screening strategy of be willing to test as far as possible in general population can reduce hepatitis C disease burden in China.


Asunto(s)
Hepatitis C Crónica , Hepatitis C , Humanos , Análisis Costo-Beneficio , Análisis de Costo-Efectividad , Hepatitis C/diagnóstico , Hepatitis C/epidemiología , Hepatitis C/prevención & control , Antivirales/uso terapéutico , Hepacivirus , Tamizaje Masivo , Años de Vida Ajustados por Calidad de Vida , China/epidemiología
3.
Zhonghua Gan Zang Bing Za Zhi ; 32(2): 119-124, 2024 Feb 20.
Artículo en Chino | MEDLINE | ID: mdl-38514260

RESUMEN

Objective: To explore the relevancy between the uridine diphosphate-glucuronylgly-cosyltransferase 1A1 (UGT1A1) gene mutation and the phenotype of indirect hyperbilirubinemia in children. Methods: Sixteen cases with indirect hyperbilirubinemia who visited the Department of Gastroenterology, Children's Hospital of Nanjing Medical University from July 2013 to November 2019 were retrospectively analyzed and were divided into Gilbert syndrome (GS), Crigler-Najjar syndrome type II (CNS-II), and indirect hyperbilirubinemia groups unexplained by UGT1A1 gene mutations. The differences in gene mutation site information and general clinical data were compared. The association between gene mutation spectrum and bilirubin level was explored by t-test analysis. Results: Ten of the sixteen cases with indirect hyperbilirubinemia had GS, three had CNS-II, and three had indirect hyperbilirubinemia unexplained by UGT1A1 gene mutations. A total of six mutation types were detected, of which c.211G > A accounted for 37.5% (6/16), c.1456T > G accounted for 62.5% (10/16), and TATA accounted for 37.5% (6/16), respectively. Compared with the GS group, the CNS group had early disease onset incidence, high serum total bilirubin (t = 5.539, P < 0.05), and indirect bilirubin (t = 5.312, P < 0.05). However, there was no significant difference in direct bilirubin levels (t = 1.223, P > 0.05) and age of onset (t = 0.3611, P > 0.05) between the two groups. There was no significant correlation between the number of UGT1A1 gene mutations and serum bilirubin levels. Children with c.1456T > G homozygous mutations had the highest serum bilirubin levels. Conclusion: The common pathogenic variants of the UGT1A1 gene sequence are c.1456T > G, c.211G > A, and TATA, indicating that these site mutations are related to the occurrence of indirect hyperbilirubinemia and have important guiding significance for the etiological analysis of indirect hyperbilirubinemia in children.


Asunto(s)
Síndrome de Crigler-Najjar , Enfermedad de Gilbert , Hiperbilirrubinemia , Niño , Humanos , Bilirrubina , Enfermedad de Gilbert/genética , Glucuronosiltransferasa/genética , Hiperbilirrubinemia/genética , Mutación , Estudios Retrospectivos
4.
Zhonghua Xue Ye Xue Za Zhi ; 44(9): 728-736, 2023 Sep 14.
Artículo en Chino | MEDLINE | ID: mdl-38049316

RESUMEN

Objective: To analyze and compare therapy responses, outcomes, and incidence of severe hematologic adverse events of flumatinib and imatinib in patients newly diagnosed with chronic phase chronic myeloid leukemia (CML) . Methods: Data of patients with chronic phase CML diagnosed between January 2006 and November 2022 from 76 centers, aged ≥18 years, and received initial flumatinib or imatinib therapy within 6 months after diagnosis in China were retrospectively interrogated. Propensity score matching (PSM) analysis was performed to reduce the bias of the initial TKI selection, and the therapy responses and outcomes of patients receiving initial flumatinib or imatinib therapy were compared. Results: A total of 4 833 adult patients with CML receiving initial imatinib (n=4 380) or flumatinib (n=453) therapy were included in the study. In the imatinib cohort, the median follow-up time was 54 [interquartile range (IQR), 31-85] months, and the 7-year cumulative incidences of CCyR, MMR, MR(4), and MR(4.5) were 95.2%, 88.4%, 78.3%, and 63.0%, respectively. The 7-year FFS, PFS, and OS rates were 71.8%, 93.0%, and 96.9%, respectively. With the median follow-up of 18 (IQR, 13-25) months in the flumatinib cohort, the 2-year cumulative incidences of CCyR, MMR, MR(4), and MR(4.5) were 95.4%, 86.5%, 58.4%, and 46.6%, respectively. The 2-year FFS, PFS, and OS rates were 80.1%, 95.0%, and 99.5%, respectively. The PSM analysis indicated that patients receiving initial flumatinib therapy had significantly higher cumulative incidences of CCyR, MMR, MR(4), and MR(4.5) and higher probabilities of FFS than those receiving the initial imatinib therapy (all P<0.001), whereas the PFS (P=0.230) and OS (P=0.268) were comparable between the two cohorts. The incidence of severe hematologic adverse events (grade≥Ⅲ) was comparable in the two cohorts. Conclusion: Patients receiving initial flumatinib therapy had higher cumulative incidences of therapy responses and higher probability of FFS than those receiving initial imatinib therapy, whereas the incidence of severe hematologic adverse events was comparable between the two cohorts.


Asunto(s)
Antineoplásicos , Leucemia Mielógena Crónica BCR-ABL Positiva , Leucemia Mieloide de Fase Crónica , Adulto , Humanos , Adolescente , Mesilato de Imatinib/efectos adversos , Incidencia , Antineoplásicos/efectos adversos , Estudios Retrospectivos , Pirimidinas/efectos adversos , Leucemia Mielógena Crónica BCR-ABL Positiva/tratamiento farmacológico , Resultado del Tratamiento , Benzamidas/efectos adversos , Leucemia Mieloide de Fase Crónica/tratamiento farmacológico , Aminopiridinas/uso terapéutico , Inhibidores de Proteínas Quinasas/uso terapéutico
5.
Eur Rev Med Pharmacol Sci ; 27(22): 10852-10859, 2023 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-38039014

RESUMEN

OBJECTIVE: To investigate the effect of Diclofenac sodium sustained-release capsules combined with function training on functional recovery and Visual Analog Scale (VAS) score after surgery for ankle fractures. PATIENTS AND METHODS: The study included 88 patients with ankle fractures who were surgically treated at our institution between October 2019 and October 2021. The individuals were randomized into experimental and control groups, with 44 patients in each group. Following their hospitalization, all patients had surgical therapy. After surgery, patients in the control group received conventional analgesics together with function training, whereas those in the experimental group received Diclofenac sodium sustained-release capsules along with function training. The efficacy of the post-surgical treatment in the two groups was then evaluated using functional recovery and VAS scores. RESULTS: There was no significant difference in the VAS score between the two groups before intervention (p>0.05). After treatment, both groups experienced pain relief, with the VAS score of the experimental group being significantly lower than the control group (p<0.05). The number of patients in the experimental group who fully and partially complied with the study was 19 and 24, respectively, significantly higher than that of 15 and 20 in the control group. Only 1 patient in the experimental group was non-compliant, compared to 9 in the control group. The total compliance rate in the experimental group was 97.73%, much higher than that of 79.55% in the control group (p<0.05). Before the intervention, there was no significant difference in the range of active ankle motion between the two groups (p>0.05). After treatment, there was an improvement in the range of active motion of the ankle in patients from both groups. CONCLUSIONS: After ankle fracture surgery, using Diclofenac sodium sustained-release capsules in conjunction with function training successfully lowers postoperative pain. It also maintains emotional stability and ensures sleep, factors which are helpful in improving patient compliance to treatment and promoting functional recovery of the ankle. The clinical value of this treatment regimen is certain, and it deserves more widespread application.


Asunto(s)
Fracturas de Tobillo , Diclofenaco , Humanos , Diclofenaco/uso terapéutico , Fracturas de Tobillo/cirugía , Preparaciones de Acción Retardada , Dolor Postoperatorio/tratamiento farmacológico , Analgésicos/uso terapéutico , Resultado del Tratamiento
6.
Zhonghua Gan Zang Bing Za Zhi ; 31(4): 428-432, 2023 Apr 20.
Artículo en Chino | MEDLINE | ID: mdl-37248983

RESUMEN

Objective: Glycogen storage disease type IX (GSD-IX) is a rare primary glucose metabolism abnormality caused by phosphorylase kinase deficiency and a series of pathogenic gene mutations. The clinical characteristics, gene analysis, and functional verification of a mutation in a child with hepatomegaly are summarized here to clarify the pathogenic cause of the disease. Methods: The clinical data of a child with GSD-IX was collected. Peripheral blood from the child and his parents was collected for genomic DNA extraction. The patient's gene diagnosis was performed by second-generation sequencing. The suspected mutations were verified by Sanger sequencing and bioinformatics analysis. The suspected splicing mutations were verified in vivo by RT-PCR and first-generation sequencing. Results: Hepatomegaly, transaminitis, and hypertriglyceridemia were present in children. Liver biopsy pathological examination results indicated glycogen storage disease. Gene sequencing revealed that the child had a c.285 + 2_285 + 5delTAGG hemizygous mutation in the PHKA2 gene. Sanger sequencing verification showed that the mother of the child was heterozygous and the father of the child was of the wild type. Software such as HSF3.1 and ESEfinder predicted that the gene mutation affected splicing. RT-PCR of peripheral blood from children and his mother confirmed that the mutation had caused the skipping of exon 3 during the constitutive splicing of the PHKA2 gene. Conclusion: The hemizygous mutation in the PHKA2 gene (c.285 + 2_285 + 5delTAGG) is the pathogenic cause of the patient's disease. The detection of the novel mutation site enriches the mutation spectrum of the PHKA2 gene and serves as a basis for the family's genetic counseling.


Asunto(s)
Enfermedad del Almacenamiento de Glucógeno , Niño , Humanos , Exones , Enfermedad del Almacenamiento de Glucógeno/genética , Hepatomegalia/genética , Mutación , Fosforilasa Quinasa/genética , Masculino , Femenino
7.
Zhonghua Gan Zang Bing Za Zhi ; 31(1): 49-55, 2023 Jan 20.
Artículo en Chino | MEDLINE | ID: mdl-36948849

RESUMEN

Objective: To understand the basic characteristics of previously reported patients with hepatitis C and analyze the related factors affecting their antiviral treatment. Methods: A convenient sampling method was adopted. Patients who had been previously diagnosed with hepatitis C in the Wenshan Prefecture of Yunnan Province and Xuzhou City of Jiangsu Province were contacted by telephone for an interview study. The Andersen health service utilization behavior model and related literature were used to design the research framework for antiviral treatment in previously reported hepatitis C patients. A step-by-step multivariate regression analysis was used in previously reported hepatitis C patients treated with antiviral therapy. Results: A total of 483 hepatitis C patients, aged 51.73 ± 12.06 years, were investigated. The proportion of male, agricultural occupants who were registered permanent residents, farmers and migrant workers was 65.24%, 67.49%, and 58.18%, respectively. Han ethnicity (70.81%), married (77.02%), and junior high school and below educational level (82.61%) were the main ones. Multivariate logistic regression analysis results showed that married patients with hepatitis C (OR = 3.19, 95% CI: 1.93-5.25, compared with unmarried, divorced, and widowed patients) with high school education or above (OR = 2.54, 95% CI: 1.54-4.20, compared with patients with junior high school education or below) were more likely to receive antiviral treatment in the predisposition module. Patients with severe self-perceived hepatitis C in the need factor module (compared with patients with mild self-perceived disease, OR = 3.36, 95% CI: 2.09-5.40) were more likely to receive treatment. In the competency module, the family's per capita monthly income was more than 1,000 yuan (compared with patients with per capita monthly income below 1,000 yuan, OR = 1.59, 95% CI: 1.02-2.47), and the patients had a high level of awareness of hepatitis C knowledge (compared with patients with a low level of knowledge, OR = 1.54, 95% CI: 1.01-2.35), and the family members who knew the patient's infection status (compared with patients with an unknown infection status, OR = 4.59, 95% CI: 2.24-9.39) were more likely to receive antiviral treatment. Conclusion: Different income, educational, and marital statuses are related to antiviral treatment behavior in hepatitis C patients. Family support of hepatitis C patients receiving hepatitis C-related knowledge and their families knowing the infection status is more important in promoting the antiviral treatment of patients, suggesting that in the future, we should further strengthen the hepatitis C knowledge of hepatitis C patients, especially the family support of hepatitis C patients' families in treatment.


Asunto(s)
Antivirales , Hepatitis C , Humanos , Masculino , Antivirales/uso terapéutico , China , Hepatitis C/tratamiento farmacológico , Hepacivirus , Modelos Logísticos
8.
QJM ; 116(7): 528-529, 2023 07 28.
Artículo en Inglés | MEDLINE | ID: mdl-36807481
9.
Zhonghua Wai Ke Za Zhi ; 61(3): 209-213, 2023 Mar 01.
Artículo en Chino | MEDLINE | ID: mdl-36650966

RESUMEN

Objective: To examine the short-term curative effect with minimally invasive right infra-axillary thoracotomy for transaortic modified Morrow procedure. Methods: The clinical data of 60 patients who underwent video-assisted thoracoscopic transaortic modified Morrow procedure from August 2021 to August 2022 at Department of Cardiovascular Surgery, Zhejiang Provincial People's Hospital were retrospectively analyzed. There were 31 males and 29 females, with the age (M (IQR)) of 54.0(22.3) years (range: 15 to 71 years). The echocardiography confirmed the diagnosis of moderate mitral regurgitation in 30 patients, and severe mitral regurgitation in 13 patients. Systolic anterior motion (SAM) was present preoperatively in 54 patients. All 60 patients underwent transaortic modified Morrow procedure through a right infra-axillary thoracotomy using femorofemoral cardiopulmonary bypass. Surgical procedures mainly included transverse aortic incision, exposure of left ventricular outflow tract (LVOT), septal myectomy, and correction of the abnormal mitral valve and subvalvular structures. Results: All 60 patients underwent the programmatic procedures successfully without conversion to full sternotomy. The cardiopulmonary bypass time was (142.0±32.1) minutes (range: 89 to 240 minutes), while the cross-clamp time was (95.0±23.5) minutes (range: 50 to 162 minutes). The patients had a postoperative peak LVOT gradient of 7.0 (5.0) mmHg (range: 0 to 38 mmHg) (1 mmHg=0.133 kPa). A total of 57 patients were extubated on the operating table. The drainage volume in the first 24 h was (175.9±57.0) ml (range: 60 to 327 ml). The length of intensive care unit stay was 21.0 (5.8)h (range: 8 to 120 h) and postoperative hospital stay was 8 (5) days (range: 5 to 19 days). The postoperative septal thickness was 11 (2) mm (range: 8 to 14 mm). All patients had no iatrogenic ventricular septal perforation or postoperative residual SAM. The patients were followed up for 4 (9) months (range: 1 to 15 months), and none of them needed cardiac surgery again due to valve dysfunction or increased peak LVOT gradient during follow-up. Conclusion: Using a video-assisted thoracoscopic transaortic modified Morrow procedure through a right infra-axillary minithoracotomy can provide good visualization of the LVOT and hypertrophic ventricular septum, ensure optimal exposure of the mitral valve in the presence of complex mitral subvalvular structures, so that allows satisfactory short-term surgical results.


Asunto(s)
Cardiomiopatía Hipertrófica , Insuficiencia de la Válvula Mitral , Tabique Interventricular , Masculino , Femenino , Humanos , Insuficiencia de la Válvula Mitral/cirugía , Toracotomía , Estudios Retrospectivos , Cardiomiopatía Hipertrófica/cirugía , Tabique Interventricular/cirugía , Resultado del Tratamiento , Procedimientos Quirúrgicos Mínimamente Invasivos/métodos
10.
Zhonghua Liu Xing Bing Xue Za Zhi ; 43(4): 517-522, 2022 Apr 10.
Artículo en Chino | MEDLINE | ID: mdl-35443306

RESUMEN

Objective: To analyze the work indicators of China Comprehensive AIDS Response Program (China CARES) and provide reference for future work of the program. Methods: The scores of each indicator were calculated, and different scores among different types of program areas were compared. The M(Q1,Q3) was used to describe the score of each indicator. The entropy weight method was used to calculate the composite score of each indicator and the composite score was translated into a 100-point system and compared among indicators. Results: In terms of the first-level indicators, organizational leadership and management (96.0 points), publicity and education (94.0 points), and innovative strategies and measures (98.0 points) got relatively high scores; while comprehensive social governance of AIDS prevention (72.0 points) was with the lowest score. The scores of publicity and education and comprehensive intervention in county-level program areas were significantly lower than those in urban areas. For secondary indicators, the indicator with relatively lower scores included "condom use among female sex workers last time" (70.0 points)", "at least one local key population has an increase in the number of people receiving HIV testing compared with the previous year" (70.0 points)", "colleges and occupational schools set up AIDS-related self-service facilities" (65.0 points), "HIV testing among the arrested people suspected of prostitution, adultery, drug users and traffickers" (55.0 points) and "condom use among men who have sex with men during last episode" (50.0 points). The "indicator 3 comprehensive intervention" contributed most to the evaluation, while "indicator 7 innovation strategies and measures" played a minor role in the evaluation results. Conclusions: The overall situation of AIDS Response Program in 2020 was good, but the progress in different word areas was not yet balanced. The two areas of comprehensive intervention and comprehensive social governance of AIDS prevention should be strengthened. It is also suggested that relevant indicators be adjusted appropriately to improve evaluation indicators system and comprehensively promote the program.


Asunto(s)
Síndrome de Inmunodeficiencia Adquirida , Infecciones por VIH , Trabajadores Sexuales , Minorías Sexuales y de Género , Síndrome de Inmunodeficiencia Adquirida/epidemiología , Síndrome de Inmunodeficiencia Adquirida/prevención & control , China/epidemiología , Femenino , Infecciones por VIH/epidemiología , Homosexualidad Masculina , Humanos , Masculino , Evaluación de Programas y Proyectos de Salud
11.
13.
Zhonghua Yu Fang Yi Xue Za Zhi ; 54(11): 1237-1242, 2020 Nov 06.
Artículo en Chino | MEDLINE | ID: mdl-33147923

RESUMEN

Objective: To analyze the survival time and to explore the releated factors of antiretroviral therapy among HIV/AIDS patients in LiangShan Prefecture, Sichuan Province for reduction of AIDS death rate. Methods: The retrospective research method was used to collect relevant information from the Management Database of Antiviral Treatment from the National AIDS Comprehensive Prevention Information System. The Kaplan-Meier method was used to describe the survival distribution and to analyze the survival time by single factor and the model of Cox proportional riskanalysis was performed to analyze the survival time of HARRT by multi-factors analysis. Results: Total 14 219 adults and young persons aged ≥15 HIV/AIDS patients received antiviral treatment from 2005 to 2015. The average age of all cases was (36.10±9.41) years old and 10 021 were males (70.5%). The main route of infection was intravenous drug use (61.0%, 8 678 cases). At the end of the observation, 10001 cases (70.3%) were still treated, and 1 425 cases (10.0%) died; Cox Regression analysis showed that female (0.67 (0.55-0.81)), route of sexual infection (0.67 (0.56-0.79)), baseline CD4+T lymphocyte count 200-350 (0.41 (0.35-0.47)) and ≥350 (0.28 (0.24-0.34)), was a protective factor in death. At the beginning of treatment, the patient is clinically staging stage Ⅱ (0.70 (0.58-0.84)) and abnormal BMI (1.75 (1.50-2.03)), is a risk factor for death (P<0.05). Conclusion: Early antiviral treatment is of great significance in improving the anti-viral treatment effect of AIDS. Compliance education should be further strengthened so as to enhance their knowledge. And it is feasible to enhance the effect of treatment through nutritional support for prolonging patients survival time and improving the quality of life.


Asunto(s)
Síndrome de Inmunodeficiencia Adquirida , Infecciones por VIH , Síndrome de Inmunodeficiencia Adquirida/tratamiento farmacológico , Adulto , Recuento de Linfocito CD4 , China , Femenino , VIH , Infecciones por VIH/tratamiento farmacológico , Humanos , Masculino , Persona de Mediana Edad , Calidad de Vida , Estudios Retrospectivos , Factores de Riesgo , Análisis de Supervivencia , Tasa de Supervivencia
14.
Zhonghua Gan Zang Bing Za Zhi ; 28(7): 603-607, 2020 Jul 20.
Artículo en Chino | MEDLINE | ID: mdl-32791797

RESUMEN

Objective: To understand the clinical phenotype and spectrum of ATP7B gene mutation in children with Wilson's disease (WD). Methods: A total of 55 cases diagnosed with WD at the Children's Hospital Affiliated to Nanjing Medical University from June 2012 to June 2018 were taken as the research subject. ATP7B gene point mutation was detected by direct sequencing after PCR amplification. Heterozygous mutation in children was discovered by sequencing. Furthermore, the long segment mutation of exon was analyzed by multiplex ligation-dependent probe amplification (MLPA). Results: All 55 WD children had varying degree of liver damage symptoms. Among them, 2 cases had combined neurological symptoms. The positive rates of K-F ring (21%), 24-hour urine copper (97.7%), and ceruloplasmin were all abnormal. The results of ATP7B gene had identified 8 homozygous, 41 compound heterozygous and 6 heterozygous in 55 cases. Direct sequencing method had detected ten cases of ATP7B heterozygotes. In addition, MLPA analysis showed that other allele in four cases had a deletion of the ATP7B gene exon. In all cases, 35 different ATP7B gene mutations were detected, including 23 missense mutations, 3 frameshift mutations, 4 nonsense mutations, 3 exon deletions and 2 splicing changes. The most common allele mutation was c.2333G > T/p.R778L in exon 8, with an allele frequency of 36.54%, followed by c.2975C > T/p.P992L in exon 13, with an allele frequency of 14.42%. Conclusion: ATP7B gene c.2333G > T/p.R778L and c.2975C > T/p.P992L mutations are the most common mutations in children with WD in China. WD patients report shows that there are three long deletion mutations in the exon of the ATP7B gene. For WD children whose DNA sequencing is heterozygous ATP7B gene, it is suggested to further use MLPA method to detect deletion mutations of exons.


Asunto(s)
ATPasas Transportadoras de Cobre/genética , Degeneración Hepatolenticular , Niño , China , Análisis Mutacional de ADN , Genotipo , Degeneración Hepatolenticular/genética , Humanos , Mutación , Fenotipo , Análisis de Secuencia de ADN
15.
Eur Rev Med Pharmacol Sci ; 24(1): 376-384, 2020 01.
Artículo en Inglés | MEDLINE | ID: mdl-31957852

RESUMEN

OBJECTIVE: This study was designed to explore the expression of LncRNA-ANRIL in patients with coronary heart disease before and after treatment and its short-term survival prediction value. PATIENTS AND METHODS: Eighty-three patients with coronary heart disease who came to our hospital undergoing interventional therapy were selected as a research group, 81 healthy volunteers who came to our hospital for normal physical examination during the same period were selected as a control group, and LncRNA-ANRIL of subjects in the two groups before and after treatment were detected by RT-PCR. Levels of Gensini score, lactate dehydrogenase (LDH), creatine kinase isoenzyme (CK-MB), creatine kinase (CK), and BNP of patients in research group before treatment were evaluated and detected, and the correlation between those and LncRNA-ANRIL was analyzed. Then, the effective treatment of LncRNA-ANRIL for patients with coronary heart disease and the predictive value of poor prognosis were analyzed. RESULTS: The expression of LncRNA-ANRIL in patients with coronary heart disease was lower than that of normal subjects (p<0.05), and the expression levels of Gensini score, LDH, CK-MB, CK, and BNP gradually increased with the increased number of their diseased vessels (p<0.05). The expression of LncRNA-ANRIL was negatively correlated with expressions of Gensini score, LDH, CK-MB, CK, and BNP (p<0.05); ROC of LncRNA-ANRIL in predicting effective treatment, and poor prognosis of patients with coronary heart disease was over 0.9, as well as smoking; LncRNA-ANRIL, Gensini score, LDH, CK-MB, CK, and BNP were independent risk factors for the occurrence of MACE. CONCLUSIONS: LncRNA-ANRIL expresses low in the serum of patients with coronary heart disease, and it has high predictive value both for effective treatment and poor prognosis of them. Also, lncRNA-ANRIL is also an independent risk factor for their poor prognosis.


Asunto(s)
Enfermedad Coronaria/metabolismo , ARN Largo no Codificante/metabolismo , Anciano , Enfermedad Coronaria/diagnóstico , Enfermedad Coronaria/tratamiento farmacológico , Femenino , Humanos , Masculino , Persona de Mediana Edad , ARN Largo no Codificante/sangre , ARN Largo no Codificante/genética , Análisis de Supervivencia
16.
Eur Rev Med Pharmacol Sci ; 23(19): 8429-8439, 2019 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-31646573

RESUMEN

OBJECTIVE: Papillary thyroid carcinoma (PTC) is one of the general thyroid malignancies. Recently, microRNAs (miRNAs) have identified as pivotal gene regulators in PTC tumorigenesis. The aim of this study was to investigate the role of miR-486 in PTC and its underlying mechanism. PATIENTS AND METHODS: Fifty-six pairs of PTC tissue and matched normal tissue samples were collected from PTC patients who underwent surgery at our hospital from March 2015 to September 2017. Human thyroid epithelial cell line Nthy-ori3-1and PTC cell lines (BCPAP, K1, HTH83, and TPC-1) were cultured. The mRNA and protein expression level were detected by quantitative Real Time-Polymerase Chain Reaction (qRT-PCR) and Western blot, respectively. Additionally, the proliferation and migration abilities were checked by MTT (3-(4,5-dimethylthiazol-2-yl)-2,5-diphenyl tetrazolium bromide) method and transwell assay, respectively. Furthermore, dual-luciferase reporter assay was performed to confirm the combination of miR-486 and TENM1. Xenograft Model experiments were performed to assess the effects of miR-486 on tumor growth in vivo. RESULTS: MiR-486 expression was significantly reduced in PTC, which was associated with the poorer clinicopathologic characteristics and overall survival (OS) of PTC patients. Moreover, miR-486 restoration in PTC cells was confirmed to markedly inhibit proliferation, invasion, and migration via the regulation of extracellular-signal-regulated kinase (ERK) and protein kinase B (Akt) signaling pathways and epithelial-mesenchymal transition (EMT). In the meantime, teneurin transmembrane protein 1 (TENM1) was identified as a direct functional target for miR-486 in PTC cells on the basis of bioinformatic analysis and luciferase reporter assays. Additionally, we also verified that miR-486 restoration could prominently repress the PTC growth in vivo. CONCLUSIONS: MiR-486 exerted anti-tumor functions in PTC progression and served as promising biomarkers for the PTC treatment.


Asunto(s)
Regulación hacia Abajo , Transición Epitelial-Mesenquimal , Quinasas MAP Reguladas por Señal Extracelular/metabolismo , MicroARNs/metabolismo , Proteínas del Tejido Nervioso/metabolismo , Proteínas Proto-Oncogénicas c-akt/metabolismo , Tenascina/metabolismo , Cáncer Papilar Tiroideo/metabolismo , Movimiento Celular , Proliferación Celular , Transición Epitelial-Mesenquimal/genética , Humanos , MicroARNs/genética , Proteínas del Tejido Nervioso/genética , Transducción de Señal , Tenascina/genética , Cáncer Papilar Tiroideo/genética , Cáncer Papilar Tiroideo/patología , Células Tumorales Cultivadas
17.
Zhonghua Liu Xing Bing Xue Za Zhi ; 40(9): 1116-1119, 2019 Sep 10.
Artículo en Chino | MEDLINE | ID: mdl-31594156

RESUMEN

Objective: To analyze the deaths with antiretroviral treatment among adult HIV/AIDS patients in Liangshan Yi Autonomous Prefecture from 2005 to 2015, in order to understand the epidemiological characteristics and to further reduce the mortality rate in Liangshan Prefecture. Methods: The relevant information was collected through the Management Database of Antiretroviral Treatment from the National AIDS Comprehensive Prevention Information System. Results: From 2005 to 2015, a total of 14 219 adult HIV/AIDS patients received antiretroviral treatment and 1 425 death cases were reported during the treatment. The cause of death was mainly AIDS-related diseases (58.9%), and the cumulative mortality rate was 10.02%. Gender, age, the way of infection, duration of antiretroviral therapy, clinical stage when received antiretroviral therapy, and CD(4)(+) T lymphocyte levels were factors for the mortality rate (P<0.001). The mortality increased with older age, higher initiation clinical stage and lower level of CD(4)(+) T lymphocyte. Among the death cases, 82.6% were male, 1 182 (82.9%) were married or cohabited, most aged between 30-39 years old (48.6%). At the initial point of receiving antiretroviral therapy, 49.7% of the cases with CD(4)(+)T lymphocytes levels< 200/µl, 61.2% of the deaths cases were>1 000 copies/ml during the last viral load test, and 16.2% of deaths were ≥500/µl in the last CD(4)(+)T lymphocyte test; 44.5% of deaths were received antiretroviral treatment within one year. Conclusion: Early and timely antiretroviral therapy should be carried out. It is necessary to strengthen the propaganda of antiretroviral therapy and to improve the management quality of follow-up information of antiretroviral therapy case files, and to improve the medication compliance of patients.


Asunto(s)
Antirretrovirales , Infecciones por VIH/epidemiología , Adulto , Anciano , China/epidemiología , Femenino , VIH , Humanos , Masculino , Estudios Retrospectivos , Tasa de Supervivencia
18.
Eur Rev Med Pharmacol Sci ; 23(17): 7482-7487, 2019 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-31539136

RESUMEN

OBJECTIVE: MicroRNA-199a-5p (miR-199a-5p) was reported to play crucial roles in cancer progression. However, its role in glioma remains largely unknown. MATERIALS AND METHODS: RT-qPCR was employed to analyze miR-199a-5p expression level in glioma cell lines. The effects of miR-199a-5p on cell proliferation and invasion were investigated in vitro. RESULTS: We showed that miR-199a-5p expression level was significantly downregulated in glioma cell lines compared with a normal cell. In addition, miR-199a-5p overexpression suppresses glioma cell proliferation and invasion in vitro. Bioinformatic analysis and Luciferase assay suggested that the membrane-associated ring-CH-type finger 8 (MARCH8) was a target of miR-199a-5p. Furthermore, MARCH8 overexpression could partially reverse the effects of miR-199a-5p on glioma cells. CONCLUSIONS: These findings suggested that miR-199a-5p may function as a tumor suppressor in glioma by targeting MARCH8.


Asunto(s)
Neoplasias Encefálicas/genética , Glioma/genética , MicroARNs/genética , Ubiquitina-Proteína Ligasas/genética , Regiones no Traducidas 3' , Neoplasias Encefálicas/metabolismo , Línea Celular Tumoral , Movimiento Celular , Proliferación Celular , Regulación hacia Abajo , Regulación Neoplásica de la Expresión Génica , Glioma/metabolismo , Humanos , Ubiquitina-Proteína Ligasas/metabolismo
19.
Eur Rev Med Pharmacol Sci ; 23(10): 4192-4198, 2019 May.
Artículo en Inglés | MEDLINE | ID: mdl-31173290

RESUMEN

OBJECTIVE: To investigate the correlations of Homocysteine (Hcy), vascular endothelial growth factor (VEGF), and serum gastrin 17 (G17) with gastric cancer and precancerous lesions. PATIENTS AND METHODS: A total of 56 patients with gastric cancer (gastric cancer group) and 53 patients with precancerous lesions (precancerous lesion group) admitted to Heze Municipal Hospital from January 2017 to October 2018 were selected, and 50 healthy subjects undergoing the physical examination in the same period were selected as control group. The levels of serum Hcy, VEGF, and G17 in the three groups were compared, and the relations of each index with clinicopathological characteristics of gastric cancer were analyzed. RESULTS: The levels of serum Hcy, VEGF-A, VEGF-C, VEGF-D, and G17 in gastric cancer group and precancerous lesion group were higher than in control group, and those in gastric cancer group were higher than in precancerous lesion group (p<0.05). Besides, the high expression levels of serum Hcy, VEGF, and G17 had evident correlations with the tumor-node-metastasis (TNM) stage, Lauren type, infiltration depth, and lymph node metastasis of gastric cancer (p<0.05). CONCLUSIONS: Hcy, VEGF, and G17 can exhibit different levels of expressions in precancerous lesions. They are also highly expressed in gastric cancer. Besides, they are involved in the occurrence and development of gastric cancer and can be regarded as crucial indexes with clinical significance for the differential diagnosis of gastric cancer and precancerous lesions in the early stage.


Asunto(s)
Gastrinas/sangre , Homocisteína/sangre , Lesiones Precancerosas/metabolismo , Neoplasias Gástricas/metabolismo , Factor A de Crecimiento Endotelial Vascular/sangre , Estudios de Casos y Controles , Diagnóstico Diferencial , Femenino , Genes Supresores de Tumor , Humanos , Metástasis Linfática , Masculino , Persona de Mediana Edad , Estadificación de Neoplasias/métodos , Lesiones Precancerosas/patología , Neoplasias Gástricas/patología
20.
Artículo en Chino | MEDLINE | ID: mdl-30808134

RESUMEN

Objective: Olfactory impairment is commonly observed in chronic rhinosinusitis with nasal polyps(CRSwNP) and has a significant impact on quality of life. However, the risk factors for olfactory impairment have not been fully understood, and whether atopy is predisposed to olfactory impairment in CRSwNP patients remains unclear. The present study aims to unveil differences in olfaction and sinonasal symptoms between CRSwNP with and without atopy by means of a hospital-based, cross-sectional survey. Method: In this study, 288 CRSwNP patients ready for sinus surgery were consecutively enrolled, and atopy, olfaction, sinonasal symptoms and CT scores were evaluated. Result: We found 71.3% of CRSwNP patients presented olfactory loss and 34.5% of them presented olfactory complaint in this cohort (In this study, olfactory impairment has been defined when VAS≥1 and olfactory dysfunction has been defined when VAS≥5).The decreased olfactory function was associated with sinonasal symptoms(nasal congestion and rhino rhea) and total CT scores (P<0.01), but not with atopy. Multivariate logistic regression revealed that nasal congestion score and total CT score were risk factors for olfactory dysfunction (OR, 1.293 and 1.349; P<0.01) in CRSwNP patients. Conclusion: Our findings indicate atopic condition may not directly cause olfactory impairment, and physician should pay attention to the surgical treatment for local disease severity to improve the olfactory function and quality of life..


Asunto(s)
Pólipos Nasales , Trastornos del Olfato , Rinitis , Sinusitis , Enfermedad Crónica , Estudios Transversales , Humanos , Pólipos Nasales/complicaciones , Trastornos del Olfato/etiología , Calidad de Vida , Rinitis/complicaciones , Sinusitis/complicaciones , Olfato
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