The aim of our study was to evaluate the clinical efficacy of m FOLFOX-HAIC combined with donafenib and sintilimab conversion therapy followed by surgical resection of large hepatocellular carcinoma with portal vein t...The aim of our study was to evaluate the clinical efficacy of m FOLFOX-HAIC combined with donafenib and sintilimab conversion therapy followed by surgical resection of large hepatocellular carcinoma with portal vein tumor thrombus(PVTT).The clinical data of two patients with large hepatocellular carcinoma who were admitted to the Second Affiliated Hospital of Kunming Medical University were retrospectively collected.Both patients received m FOLFOX-HAIC combined with donafenib and sintilimab conversion therapy,followed by hepatectomy.Clinical data were reported,and clinical efficacy was evaluated.One patient had a 14.5×11.1 cm tumor with a tumor thrombus in the right portal vein.The other patient had a 12.1×8.3 cm tumor with portal and hepatic vein tumor thrombi.Both patients had CNLC stageⅢa prior to conversion therapy,which was reduced to stageⅠb after conversion therapy.Subsequently,the patient underwent open and laparoscopic right hemihepatectomies.Short-term high-intensity conversion therapy with m FOLFOXHAIC combined with donafenib and sintilimab is a feasible and effective treatment for patients with large hepatocellular carcinoma with PVTT.展开更多
Background Newborn screening(NBS)is an important and successful public health program that helps improve the long-term clinical outcomes of newborns by providing early diagnosis and treatment of certain inborn disease...Background Newborn screening(NBS)is an important and successful public health program that helps improve the long-term clinical outcomes of newborns by providing early diagnosis and treatment of certain inborn diseases.The develop-ment of next-generation sequencing(NGS)technology provides new opportunities to expand current newborn screening methodologies.Methods We designed a a newborn genetic screening(NBGS)panel targeting 135 genes associated with 75 inborn disorders by multiplex PCR combined with NGS.With this panel,a large-scale,multicenter,prospective multidisease analysis was conducted on dried blood spot(DBS)profiles from 21,442 neonates nationwide.Results We presented the positive detection rate and carrier frequency of diseases and related variants in different regions;and 168(0.78%)positive cases were detected.Glucose-6-Phosphate Dehydrogenase deficiency(G6PDD)and phenylketonuria(PKU)had higher prevalence rates,which were significantly different in different regions.The positive detection of G6PD variants was quite common in south China,whereas PAH variants were most commonly identified in north China.In addi-tion,NBGS identified 3 cases with DUOX2 variants and one with SLC25A13 variants,which were normal in conventional NBS,but were confirmed later as abnormal in repeated biochemical testing after recall.Eighty percent of high-frequency gene carriers and 60%of high-frequency variant carriers had obvious regional differences.On the premise that there was no significant difference in birth weight and gestational age,the biochemical indicators of SLC22A5 c.1400C>G and ACADSB c.1165A>G carriers were significantly different from those of non-carriers.Conclusions We demonstrated that NBGS is an effective strategy to identify neonates affected with treatable diseases as a supplement to current NBS methods.Our data also showed that the prevalence of diseases has significant regional charac-teristics,which provides a theoretical basis for screening diseases in different regions.展开更多
基金Supported by grants from the Clinical Research Program of Kunming Medical University(No.yn IIT20211013)the Joint Special Fund Project of Kunming Medical University(No.202201AY070001-105)。
文摘The aim of our study was to evaluate the clinical efficacy of m FOLFOX-HAIC combined with donafenib and sintilimab conversion therapy followed by surgical resection of large hepatocellular carcinoma with portal vein tumor thrombus(PVTT).The clinical data of two patients with large hepatocellular carcinoma who were admitted to the Second Affiliated Hospital of Kunming Medical University were retrospectively collected.Both patients received m FOLFOX-HAIC combined with donafenib and sintilimab conversion therapy,followed by hepatectomy.Clinical data were reported,and clinical efficacy was evaluated.One patient had a 14.5×11.1 cm tumor with a tumor thrombus in the right portal vein.The other patient had a 12.1×8.3 cm tumor with portal and hepatic vein tumor thrombi.Both patients had CNLC stageⅢa prior to conversion therapy,which was reduced to stageⅠb after conversion therapy.Subsequently,the patient underwent open and laparoscopic right hemihepatectomies.Short-term high-intensity conversion therapy with m FOLFOXHAIC combined with donafenib and sintilimab is a feasible and effective treatment for patients with large hepatocellular carcinoma with PVTT.
基金the Foundation of National Key R&D Program of China of Research on Application Demonstration and Evaluation of Comprehensive Prevention And Control Technology of Birth Defects(Grant No.2018YFC1002700)Zhejiang R&D Research Project Research on New Technologies for Birth Health,Birth Safety and Perinatal Disease Diagnosis and Treatment(Grant No.2021C03099).
文摘Background Newborn screening(NBS)is an important and successful public health program that helps improve the long-term clinical outcomes of newborns by providing early diagnosis and treatment of certain inborn diseases.The develop-ment of next-generation sequencing(NGS)technology provides new opportunities to expand current newborn screening methodologies.Methods We designed a a newborn genetic screening(NBGS)panel targeting 135 genes associated with 75 inborn disorders by multiplex PCR combined with NGS.With this panel,a large-scale,multicenter,prospective multidisease analysis was conducted on dried blood spot(DBS)profiles from 21,442 neonates nationwide.Results We presented the positive detection rate and carrier frequency of diseases and related variants in different regions;and 168(0.78%)positive cases were detected.Glucose-6-Phosphate Dehydrogenase deficiency(G6PDD)and phenylketonuria(PKU)had higher prevalence rates,which were significantly different in different regions.The positive detection of G6PD variants was quite common in south China,whereas PAH variants were most commonly identified in north China.In addi-tion,NBGS identified 3 cases with DUOX2 variants and one with SLC25A13 variants,which were normal in conventional NBS,but were confirmed later as abnormal in repeated biochemical testing after recall.Eighty percent of high-frequency gene carriers and 60%of high-frequency variant carriers had obvious regional differences.On the premise that there was no significant difference in birth weight and gestational age,the biochemical indicators of SLC22A5 c.1400C>G and ACADSB c.1165A>G carriers were significantly different from those of non-carriers.Conclusions We demonstrated that NBGS is an effective strategy to identify neonates affected with treatable diseases as a supplement to current NBS methods.Our data also showed that the prevalence of diseases has significant regional charac-teristics,which provides a theoretical basis for screening diseases in different regions.