After Enzyme Replacement Therapy (ERT) using recombinant human acid alpha-glucosidase (rhGAA), survival of Infantile Pompe Disease (IPD) patients through the first 18 months of age has been documented and acquisitions...After Enzyme Replacement Therapy (ERT) using recombinant human acid alpha-glucosidase (rhGAA), survival of Infantile Pompe Disease (IPD) patients through the first 18 months of age has been documented and acquisitions of motor development are an important outcome, but description of its course is scarce. Objective: To describe the motor development in an IPD patient and its correlation with clinical conditions during the first 18 months on ERT with rhGAA. Methods: By longitudinal observational study of an IPD case at early stage. Clinical and biochemical characteristics were obtained from patient records. Echocardiogram assessed cardiac indexes and the urinary biomarker—glucose tetrasaccharide (Glc4)—was obtained by HPLC/UV, following sample derivatization with butyl 4-amino benzoate and analysis on a C18 stationary phase column. Motor skills were evaluated with Alberta Infant of Motor Scale (AIMS) and motor delay was considered as motor percentile (p) below 10. Descriptive statistical analysis was carried out and t-test was used to calculate the differences among means, with significance level defined as p value < 0.05. Results: After ERT beginning amelioration of the cardiomyopathy with reduced left ventricle mass index (LVMI) from the 2nd month onwards was observed, but above the upper normal limit for healthy children and CRIM-positive IPD patients. Although GAA antibodies level remained above the recommended titers and fluctuating elevation of Glc4 quantified, motor development analysis showed an ascendant curve expected for age within achievement of independent ambulation. Motor delay after pneumonia and maintenance of hypotonia were noted. Variation of Glc4 appeared long after a transitory intercurrence. Conclusion: In an IPD case, motor development can have normal evolution despite hypotonia. Motor analysis seems to be sensitive to follow-up clinical intercurrences. To elucidate the interaction among prognostic factors and outcomes, further clinical studies need to be conducted.展开更多
Since hydrate resources play a part of the stratigraphic framework structure in sediments,establishing a safe and economic method for hydrates exploitation remains the primary challenge to this day.Among the proposed ...Since hydrate resources play a part of the stratigraphic framework structure in sediments,establishing a safe and economic method for hydrates exploitation remains the primary challenge to this day.Among the proposed methods,the spontaneous displacement of CH_(4) from hydrate cages by CO_(2) seems to be a perfect mechanism to address gas production and CO_(2) storage,especially in today's strong demand for carbon reduction and replacing clean energy.After extensive lab researches,in the past decade,injecting a mixture of CO_(2) and small molecule gas has become a key means to enhance displacement efficiency and has great potential for application.However,there is a lack of in-depth research on gas flow in the reservoir,while the injected gas always passes through low-saturated hydrate areas with high permeability and then occurs gas channel in a short term,finally resulting in the decreases in gas production efficiency and produced gas quality.Therefore,we explored a new injection-production mode of alternate injection of N2 and CO_(2) in order to fully coordinate the advantages of N_(2) in enhanced hydrate decomposition and CO_(2) in solid storage and heat compensation.These alternate"taking"and"storing"processes perfectly repair the problem of the gas channel,achieving self-regulation effect of CH_(4) recovery and CO_(2) storage.The 3-D experimental results show that compared to the mixed gas injection,CH_(4) recovery is increased by>50%and CO_(2) storage is increased by>70%.Additionally,this alternate injection mode presented a better performance in CH_(4) concentration of produced gas and showed outstanding N_(2) utilization efficiency.Further,we analyzed its self-adaptive gas flow mechanism and proposed an application model of"one injection and multiple production".We look forward to this study accelerating the application of CO_(2)-CH_(4) replacement technology.展开更多
文摘After Enzyme Replacement Therapy (ERT) using recombinant human acid alpha-glucosidase (rhGAA), survival of Infantile Pompe Disease (IPD) patients through the first 18 months of age has been documented and acquisitions of motor development are an important outcome, but description of its course is scarce. Objective: To describe the motor development in an IPD patient and its correlation with clinical conditions during the first 18 months on ERT with rhGAA. Methods: By longitudinal observational study of an IPD case at early stage. Clinical and biochemical characteristics were obtained from patient records. Echocardiogram assessed cardiac indexes and the urinary biomarker—glucose tetrasaccharide (Glc4)—was obtained by HPLC/UV, following sample derivatization with butyl 4-amino benzoate and analysis on a C18 stationary phase column. Motor skills were evaluated with Alberta Infant of Motor Scale (AIMS) and motor delay was considered as motor percentile (p) below 10. Descriptive statistical analysis was carried out and t-test was used to calculate the differences among means, with significance level defined as p value < 0.05. Results: After ERT beginning amelioration of the cardiomyopathy with reduced left ventricle mass index (LVMI) from the 2nd month onwards was observed, but above the upper normal limit for healthy children and CRIM-positive IPD patients. Although GAA antibodies level remained above the recommended titers and fluctuating elevation of Glc4 quantified, motor development analysis showed an ascendant curve expected for age within achievement of independent ambulation. Motor delay after pneumonia and maintenance of hypotonia were noted. Variation of Glc4 appeared long after a transitory intercurrence. Conclusion: In an IPD case, motor development can have normal evolution despite hypotonia. Motor analysis seems to be sensitive to follow-up clinical intercurrences. To elucidate the interaction among prognostic factors and outcomes, further clinical studies need to be conducted.
基金financially supported by the National Natural Science Foundation of ChinaChina(Nos.22378424,22127812,U20B6005,52004136)+1 种基金the Science Foundation of China University of Petroleum,Beijing(No.2462023BJRC017)Hunan Provincial Department of Education Scientific Research Project(No.22B0310)。
文摘Since hydrate resources play a part of the stratigraphic framework structure in sediments,establishing a safe and economic method for hydrates exploitation remains the primary challenge to this day.Among the proposed methods,the spontaneous displacement of CH_(4) from hydrate cages by CO_(2) seems to be a perfect mechanism to address gas production and CO_(2) storage,especially in today's strong demand for carbon reduction and replacing clean energy.After extensive lab researches,in the past decade,injecting a mixture of CO_(2) and small molecule gas has become a key means to enhance displacement efficiency and has great potential for application.However,there is a lack of in-depth research on gas flow in the reservoir,while the injected gas always passes through low-saturated hydrate areas with high permeability and then occurs gas channel in a short term,finally resulting in the decreases in gas production efficiency and produced gas quality.Therefore,we explored a new injection-production mode of alternate injection of N2 and CO_(2) in order to fully coordinate the advantages of N_(2) in enhanced hydrate decomposition and CO_(2) in solid storage and heat compensation.These alternate"taking"and"storing"processes perfectly repair the problem of the gas channel,achieving self-regulation effect of CH_(4) recovery and CO_(2) storage.The 3-D experimental results show that compared to the mixed gas injection,CH_(4) recovery is increased by>50%and CO_(2) storage is increased by>70%.Additionally,this alternate injection mode presented a better performance in CH_(4) concentration of produced gas and showed outstanding N_(2) utilization efficiency.Further,we analyzed its self-adaptive gas flow mechanism and proposed an application model of"one injection and multiple production".We look forward to this study accelerating the application of CO_(2)-CH_(4) replacement technology.
