AIM： To assess the role of lactase non-persistence/per- sistence in school-aged children and their milk-related symptoms. METHODS： The genotypes for the C/T-13910 variant associated with lactase non-persistence/ per...AIM： To assess the role of lactase non-persistence/per- sistence in school-aged children and their milk-related symptoms. METHODS： The genotypes for the C/T-13910 variant associated with lactase non-persistence/ persistence were determined using PCR-minisequencing in a group of 172 children with a mean age of 8.6 years （SE = 0.02, 93 boys） participating in a follow-up study for cow＇s milk allergy. The parents were asked to assess their children＇s milk consumption and abdominal symptoms. RESULTS： The presence of allergy to cow＇s milk was not associated with the C/C-13910 genotype related with a decline of lactase enzyme activity during childhood （lactase non-persistence）. The frequency of the C/C-13910 genotype （16%） was similar to published figures for the prevalence of adult-type hypolactasia in Finland. The majority of the children （90%） in this series consumed milk but 26% of their families suspected that their children had milk-related symptoms. Forty-eight percent of the children with the C/C-13910 genotype did not drink milk at all or consumed a low lactose containing diet prior to the genotyping （P〈 0.004 when compared to the other genotypes）. CONCLUSION： Analysis of the C/T-13910 polymorphism is an easy and reliable method for excluding adult-type hypolactasia in children with milk-related symptoms. Genotyping for this variant can be used to advise diets for children with a previous history of cow＇s milk allergy.展开更多
报告以脑积水起病的晚发型戊二酸血症1型(glutaric acidemia type 1,GA1)1例。患者女性,21岁,以急性脑积水为主要临床表现,头颅MRI示脑内大范围脑白质、双侧基底节区及小脑半球蚓部异常信号,双侧脑室扩张,双侧颞极蛛网膜囊肿。血尿有机...报告以脑积水起病的晚发型戊二酸血症1型(glutaric acidemia type 1,GA1)1例。患者女性,21岁,以急性脑积水为主要临床表现,头颅MRI示脑内大范围脑白质、双侧基底节区及小脑半球蚓部异常信号,双侧脑室扩张,双侧颞极蛛网膜囊肿。血尿有机酸分析检出大量戊二酸和3-羟基戊二酸,GCDH基因检测发现为复合杂合性突变(S119L和R355H),确诊为戊二酸血症1型,给予相关治疗后,症状缓解。可见临床上如遇上难以解释的脑积水,头部MRI示典型对称性病灶,包括小脑损害,应进行血尿有机酸筛查以除外代谢性疾病。展开更多
近年来,随着我国人民生活水平的不断提高和生活方式的改变,肥胖发生率和糖尿病患病率逐年增加,且越来越年轻化。成人早发2型糖尿病(early-onset type 2 diabetes mellitus,EOT2DM)已逐渐被关注。相比晚发性患者,EOT2DM患者的发病机制错...近年来,随着我国人民生活水平的不断提高和生活方式的改变,肥胖发生率和糖尿病患病率逐年增加,且越来越年轻化。成人早发2型糖尿病(early-onset type 2 diabetes mellitus,EOT2DM)已逐渐被关注。相比晚发性患者,EOT2DM患者的发病机制错综复杂,胰岛β细胞功能障碍及胰岛素抵抗更重,更易合并高血糖、高血脂、家族遗传史等危险因素。因此,本文对成人EOT2DM的发病机制进行综述。展开更多
目的探究成人1型糖尿病(diabetes mellitus type 1,T1DM)患者应用胰岛素治疗中加入西格列汀的效果。方法目的选取2021年1月—2023年12月新沂市人民医院收治的76例成人T1DM患者作为研究对象。根据药物治疗方案不同分为对照组(胰岛素治疗...目的探究成人1型糖尿病(diabetes mellitus type 1,T1DM)患者应用胰岛素治疗中加入西格列汀的效果。方法目的选取2021年1月—2023年12月新沂市人民医院收治的76例成人T1DM患者作为研究对象。根据药物治疗方案不同分为对照组(胰岛素治疗)、观察组(胰岛素治疗基础上加入西格列汀),各38例。比较两组患者血糖水平、胰岛素用量及体重指数、不良反应发生率和低血糖发生率。结果治疗90 d后,观察组空腹血糖、餐后2 h血糖、糖化血红蛋白水平分别为(5.71±1.04)mmol/L、(8.61±1.86)mmol/L、(6.02±1.01)%,低于对照组的(6.22±1.06)mmol/L、(10.07±1.85)mmol/L、(6.55±1.22)%,差异均有统计学意义(t=2.117,3.431,2.063;P均<0.05)。治疗90 d后,观察组胰岛素用量更少,差异均有统计学意义(P均<0.05)。观察组和对照组体重指数、不良反应总发生率相比,差异均无统计学意义(P均>0.05),但观察组低血糖发生率低于对照组,差异有统计学意义(P<0.05)。结论胰岛素治疗成人T1DM基础上联用西格列汀,血糖水平控制效果显著,可减少胰岛素用量并降低低血糖发生风险且安全性良好。展开更多
基金Supported by The Sigrid Juselius Foundation, Helsinki, Finland The Helsinki University Hospital Research Funding, Helsinki, Finland The Helsinki University Science Foundation, Helsinki, Finland and The Foundation of Nutrition Research, Helsinki, Finland
文摘AIM： To assess the role of lactase non-persistence/per- sistence in school-aged children and their milk-related symptoms. METHODS： The genotypes for the C/T-13910 variant associated with lactase non-persistence/ persistence were determined using PCR-minisequencing in a group of 172 children with a mean age of 8.6 years （SE = 0.02, 93 boys） participating in a follow-up study for cow＇s milk allergy. The parents were asked to assess their children＇s milk consumption and abdominal symptoms. RESULTS： The presence of allergy to cow＇s milk was not associated with the C/C-13910 genotype related with a decline of lactase enzyme activity during childhood （lactase non-persistence）. The frequency of the C/C-13910 genotype （16%） was similar to published figures for the prevalence of adult-type hypolactasia in Finland. The majority of the children （90%） in this series consumed milk but 26% of their families suspected that their children had milk-related symptoms. Forty-eight percent of the children with the C/C-13910 genotype did not drink milk at all or consumed a low lactose containing diet prior to the genotyping （P〈 0.004 when compared to the other genotypes）. CONCLUSION： Analysis of the C/T-13910 polymorphism is an easy and reliable method for excluding adult-type hypolactasia in children with milk-related symptoms. Genotyping for this variant can be used to advise diets for children with a previous history of cow＇s milk allergy.
文摘报告以脑积水起病的晚发型戊二酸血症1型(glutaric acidemia type 1,GA1)1例。患者女性,21岁,以急性脑积水为主要临床表现,头颅MRI示脑内大范围脑白质、双侧基底节区及小脑半球蚓部异常信号,双侧脑室扩张,双侧颞极蛛网膜囊肿。血尿有机酸分析检出大量戊二酸和3-羟基戊二酸,GCDH基因检测发现为复合杂合性突变(S119L和R355H),确诊为戊二酸血症1型,给予相关治疗后,症状缓解。可见临床上如遇上难以解释的脑积水,头部MRI示典型对称性病灶,包括小脑损害,应进行血尿有机酸筛查以除外代谢性疾病。
文摘近年来,随着我国人民生活水平的不断提高和生活方式的改变,肥胖发生率和糖尿病患病率逐年增加,且越来越年轻化。成人早发2型糖尿病(early-onset type 2 diabetes mellitus,EOT2DM)已逐渐被关注。相比晚发性患者,EOT2DM患者的发病机制错综复杂,胰岛β细胞功能障碍及胰岛素抵抗更重,更易合并高血糖、高血脂、家族遗传史等危险因素。因此,本文对成人EOT2DM的发病机制进行综述。
