目的探讨早期灌肠对合并腹内高压的重症急性胰腺炎的治疗效果。方法回顾性分析沈阳军区总医院自2013年1月至2015年12月收治的67例合并腹内高压的重症急性胰腺炎患者的临床资料,将患者分为常规组(n=37)和灌肠组(n=30)。两组患者均接受常...目的探讨早期灌肠对合并腹内高压的重症急性胰腺炎的治疗效果。方法回顾性分析沈阳军区总医院自2013年1月至2015年12月收治的67例合并腹内高压的重症急性胰腺炎患者的临床资料,将患者分为常规组(n=37)和灌肠组(n=30)。两组患者均接受常规治疗,包括禁食水、胃肠减压、抑酸、抑胰酶、早期液体复苏及持续心电血氧饱和度监护等;灌肠组在上述治疗基础上,给予生理盐水+复方甘油灌肠液或大黄浸泡液灌肠。比较两组患者治疗后胃肠功能恢复(肠鸣音恢复、首次排气、首次排便)时间,腹内压降至<16 cm H2O的时间,腹腔间隔室综合征发生率,病死率,住院天数及住院费用等。结果灌肠组患者肠鸣音恢复、首次排气、首次排便、腹内压降至<16 cm H2O的时间分别为(3.5±0.4)d、(4.2±0.6)d、(5.0±0.7)d、(6.1±0.9)d,低于常规组的(5.8±0.8)d、(6.3±0.9)d、(6.8±1.2)d、(7.5±1.5)d;灌肠组患者腹腔间隔室综合征发生率为6.7%(2/30),低于常规组的16.2%(6/37);灌肠组患者病死率为3.3%(1/30),低于常规组的10.8%(4/37);灌肠组患者平均住院天数为(15.3±3.1)d,低于常规组的(21.6±4.8)d;灌肠组患者平均住院费用为(3.1±1.1)万元,低于常规组的(4.6±1.8)万元。两组比较,差异均有统计学意义(P<0.05)。结论对于合并腹内高压的重症急性胰腺炎患者,早期给予灌肠治疗可有效降低腹内压,缓解症状,缩短治疗周期,改善预后。展开更多
目的对一个Schmid型干骺端软骨发育不良(Schmid type metaphyseal chondrodysplasia,SMCD)三代家系进行致病基因分析并探讨该突变在SMCD发病机制中的潜在作用,并探索SMCD基因型与表型的关系。方法回顾性分析1例SMCD患儿的临床资料并定...目的对一个Schmid型干骺端软骨发育不良(Schmid type metaphyseal chondrodysplasia,SMCD)三代家系进行致病基因分析并探讨该突变在SMCD发病机制中的潜在作用,并探索SMCD基因型与表型的关系。方法回顾性分析1例SMCD患儿的临床资料并定期随访,抽取患儿及家系成员的外周血进行全外显子组测序分析,针对可疑变异进行Sanger测序验证和生物信息学预测突变的致病性,并对突变蛋白质的三维结构进行建模,分析突变蛋白三级结构的变化。通过构建野生型和突变型COL10A1质粒,进行体外功能研究。通过PubMed数据库查询1997年1月至2021年8月既往报道对SMCD所有病例进行的文献综述和基因型-表型分析,总结COL10A1突变基因型-表型关系。结果经全外显子测序检测到患儿COL10A1基因存在杂合突变(c.1863_1866delAATG,p.M622Tfs*54),为未报道过的新变异。经家系验证分析,家系成员均未检测出此突变。生物信息学软件预测可能为有害变异。SWISS-MODEL同源建模显示该突变位于NC1结构域,预测突变蛋白产生截短的Ⅹ型胶原α-1(X)链,引起Ⅹ型胶原蛋白α-1(X)亚基的错误折叠和三聚体不正确组装。体外功能实验发现突变体α-1(X)链表达降低,α-1(X)链三聚体降低,而α-1(X)链二聚体水平明显升高。基因型-表型分析结果显示,携带截短突变或NC1结构域突变的患者比携带非截短突变或非NC1结构域突变的患者发病年龄更早,临床表型更严重。结论COL10A1基因新发突变(p.M622Tfs*54)引起X胶原α-1(X)链三聚化及组装异常,导致SMCD。COL10A1蛋白NC1结构域是SMCD的热点突变区域,携带NC1结构域突变患者发病年龄较早且临床症状更严重。展开更多
Background Few studies have given suggestions on appropriate initiation insulin dosage when combined with oral antidiabetic drugs （OADs）. This research was to investigate appropriate initiation insulin doses for ins...Background Few studies have given suggestions on appropriate initiation insulin dosage when combined with oral antidiabetic drugs （OADs）. This research was to investigate appropriate initiation insulin doses for insulin-naive type 2diabetes patients with different combinations and the relationship between insulin dosage and relevant factors.Methods This was a randomized, open-label, treat to target study. The target was 20% decrease of both fasting plasma glucose （FPG） and 2 hours post-breakfast blood glucose （P2hBG）. One hundred and forty-seven insulin-naive Chinese patients recruited were randomiy assigned to 3 groups： group A, patients received insulin monotherapy; group B, received insulin plus metformin （0.5 g, tid） and group C, received insulin plus metformin （0.5 g, tid） and pioglitazone （15 mg, qd）.Results Both the time of getting 20% reduction of FPG and P2hBG showed significant differences among the three groups. The time was shortest in Group C. The insulin doses needed to achieve glucose reduction of 20% in three treatment groups were （0.40±0.04） U·kg-1·d-1 for Group A, （0.37±0.04） U·kg-1·d-1 for Group B, and （0.35±0.03） U·kg-1·d-1 for Group C, respectively. Multiple linear stepwise regression analysis showed that insulin doses correlated with body weight, FPG, diabetes duration, age and history of sulfonylurea treatment. The standardized regression coefficients were 0.871, 0.322, 0.089, 0.067 and 0.063 （with all P ＜0.05）.Conclusions To achieve blood glucose＇s reduction of 20% within safety context, initial insulin doses were recommended as the following： 0.40 U·kg-1·d-1 for insulin mono-therapy, 0.37 U·kg-1·d-1 for insulin plus metformin treatment, and 0.35 U·kg-1.d-1 for insulin plus metformin and pioglitazone treatment in Chinese type 2 diabetes outpatients. Body weight is found the most closely related factor to the insulin dosage.展开更多
Background Hyperinsulinemia and insulin resistance are present in the majority of women with polycystic ovary syndrome （PCOS）. Both metformin and rosiglitazone can improve the ovulation and endocrine disorders of th...Background Hyperinsulinemia and insulin resistance are present in the majority of women with polycystic ovary syndrome （PCOS）. Both metformin and rosiglitazone can improve the ovulation and endocrine disorders of the patients. How about the combination of the two？ It is rarely reported. This study aimed to compare the therapeutic efficacy of metformin versus metformin plus rosiglitazone in patients with PCOS.Methods Fifty-eight women with PCOS were randomly assigned to two groups. Metformin group （29） was treated with metformin mono-therapy and metformin plus rosiglitazone group （29） was treated with metformin plus rosiglitazone for 6 months. Treatment was discontinued once pregnancy was diagnosed.Results Fasting insulin, postprandial insulin, the homeostatic model assessment of insulin resistance （HOMA-IR）, luteinizing hormone （LH）, triglyceride, lower density cholesterol and testosterone level decreased significantly in both groups （P 〈0.05）. Metformin plus rosiglitazone had a better effect than metformin mono-therapy. Body mass index decreased by 7.8% in metformin group while no significant change in metformin plus rosiglitazone group. There were eight pregnancies, six in rnetformin plus rosiglitazone group （one abortion） and two in metformin group. There was no congenital anomaly at birth and seven infants developed well at one year＇s follow-up.Conclusions Metformin can improve insulin resistance and imbalance of endocrine hormones. Metformin plus rosiglitazone has a more pronounced therapeutic effect and achieved more pregnancies than mono-therapy with metformin. The use of metformin and rosiglitazone before pregnancy has no obvious side effect on the development of the infants. Our study might suggest that metformin is the better choice in PCOS patients with serious obese and rosiglitazone plus metformin would be more effective in patients with severe insulin resistance or those do not respond to metformin.展开更多
Tricho-rhino-phalangeal syndrome （TRPS） was first reported in 1966. Although mutation of TRPS1 gene is considered to be responsible for the syndromes in 2000, investigation of bone metabolism and changes of serum in...Tricho-rhino-phalangeal syndrome （TRPS） was first reported in 1966. Although mutation of TRPS1 gene is considered to be responsible for the syndromes in 2000, investigation of bone metabolism and changes of serum insulin-like growth factor （IGF）-1 level in this kind of patients is rare. Here, we report a patient with TRPS I （MIM 190350） presenting a novel mutation （1096insA） and abnormal changes of severe osteoporosis as well as low serum IGF-I level.展开更多
文摘目的探讨早期灌肠对合并腹内高压的重症急性胰腺炎的治疗效果。方法回顾性分析沈阳军区总医院自2013年1月至2015年12月收治的67例合并腹内高压的重症急性胰腺炎患者的临床资料,将患者分为常规组(n=37)和灌肠组(n=30)。两组患者均接受常规治疗,包括禁食水、胃肠减压、抑酸、抑胰酶、早期液体复苏及持续心电血氧饱和度监护等;灌肠组在上述治疗基础上,给予生理盐水+复方甘油灌肠液或大黄浸泡液灌肠。比较两组患者治疗后胃肠功能恢复(肠鸣音恢复、首次排气、首次排便)时间,腹内压降至<16 cm H2O的时间,腹腔间隔室综合征发生率,病死率,住院天数及住院费用等。结果灌肠组患者肠鸣音恢复、首次排气、首次排便、腹内压降至<16 cm H2O的时间分别为(3.5±0.4)d、(4.2±0.6)d、(5.0±0.7)d、(6.1±0.9)d,低于常规组的(5.8±0.8)d、(6.3±0.9)d、(6.8±1.2)d、(7.5±1.5)d;灌肠组患者腹腔间隔室综合征发生率为6.7%(2/30),低于常规组的16.2%(6/37);灌肠组患者病死率为3.3%(1/30),低于常规组的10.8%(4/37);灌肠组患者平均住院天数为(15.3±3.1)d,低于常规组的(21.6±4.8)d;灌肠组患者平均住院费用为(3.1±1.1)万元,低于常规组的(4.6±1.8)万元。两组比较,差异均有统计学意义(P<0.05)。结论对于合并腹内高压的重症急性胰腺炎患者,早期给予灌肠治疗可有效降低腹内压,缓解症状,缩短治疗周期,改善预后。
文摘目的对一个Schmid型干骺端软骨发育不良(Schmid type metaphyseal chondrodysplasia,SMCD)三代家系进行致病基因分析并探讨该突变在SMCD发病机制中的潜在作用,并探索SMCD基因型与表型的关系。方法回顾性分析1例SMCD患儿的临床资料并定期随访,抽取患儿及家系成员的外周血进行全外显子组测序分析,针对可疑变异进行Sanger测序验证和生物信息学预测突变的致病性,并对突变蛋白质的三维结构进行建模,分析突变蛋白三级结构的变化。通过构建野生型和突变型COL10A1质粒,进行体外功能研究。通过PubMed数据库查询1997年1月至2021年8月既往报道对SMCD所有病例进行的文献综述和基因型-表型分析,总结COL10A1突变基因型-表型关系。结果经全外显子测序检测到患儿COL10A1基因存在杂合突变(c.1863_1866delAATG,p.M622Tfs*54),为未报道过的新变异。经家系验证分析,家系成员均未检测出此突变。生物信息学软件预测可能为有害变异。SWISS-MODEL同源建模显示该突变位于NC1结构域,预测突变蛋白产生截短的Ⅹ型胶原α-1(X)链,引起Ⅹ型胶原蛋白α-1(X)亚基的错误折叠和三聚体不正确组装。体外功能实验发现突变体α-1(X)链表达降低,α-1(X)链三聚体降低,而α-1(X)链二聚体水平明显升高。基因型-表型分析结果显示,携带截短突变或NC1结构域突变的患者比携带非截短突变或非NC1结构域突变的患者发病年龄更早,临床表型更严重。结论COL10A1基因新发突变(p.M622Tfs*54)引起X胶原α-1(X)链三聚化及组装异常,导致SMCD。COL10A1蛋白NC1结构域是SMCD的热点突变区域,携带NC1结构域突变患者发病年龄较早且临床症状更严重。
文摘Background Few studies have given suggestions on appropriate initiation insulin dosage when combined with oral antidiabetic drugs （OADs）. This research was to investigate appropriate initiation insulin doses for insulin-naive type 2diabetes patients with different combinations and the relationship between insulin dosage and relevant factors.Methods This was a randomized, open-label, treat to target study. The target was 20% decrease of both fasting plasma glucose （FPG） and 2 hours post-breakfast blood glucose （P2hBG）. One hundred and forty-seven insulin-naive Chinese patients recruited were randomiy assigned to 3 groups： group A, patients received insulin monotherapy; group B, received insulin plus metformin （0.5 g, tid） and group C, received insulin plus metformin （0.5 g, tid） and pioglitazone （15 mg, qd）.Results Both the time of getting 20% reduction of FPG and P2hBG showed significant differences among the three groups. The time was shortest in Group C. The insulin doses needed to achieve glucose reduction of 20% in three treatment groups were （0.40±0.04） U·kg-1·d-1 for Group A, （0.37±0.04） U·kg-1·d-1 for Group B, and （0.35±0.03） U·kg-1·d-1 for Group C, respectively. Multiple linear stepwise regression analysis showed that insulin doses correlated with body weight, FPG, diabetes duration, age and history of sulfonylurea treatment. The standardized regression coefficients were 0.871, 0.322, 0.089, 0.067 and 0.063 （with all P ＜0.05）.Conclusions To achieve blood glucose＇s reduction of 20% within safety context, initial insulin doses were recommended as the following： 0.40 U·kg-1·d-1 for insulin mono-therapy, 0.37 U·kg-1·d-1 for insulin plus metformin treatment, and 0.35 U·kg-1.d-1 for insulin plus metformin and pioglitazone treatment in Chinese type 2 diabetes outpatients. Body weight is found the most closely related factor to the insulin dosage.
文摘Background Hyperinsulinemia and insulin resistance are present in the majority of women with polycystic ovary syndrome （PCOS）. Both metformin and rosiglitazone can improve the ovulation and endocrine disorders of the patients. How about the combination of the two？ It is rarely reported. This study aimed to compare the therapeutic efficacy of metformin versus metformin plus rosiglitazone in patients with PCOS.Methods Fifty-eight women with PCOS were randomly assigned to two groups. Metformin group （29） was treated with metformin mono-therapy and metformin plus rosiglitazone group （29） was treated with metformin plus rosiglitazone for 6 months. Treatment was discontinued once pregnancy was diagnosed.Results Fasting insulin, postprandial insulin, the homeostatic model assessment of insulin resistance （HOMA-IR）, luteinizing hormone （LH）, triglyceride, lower density cholesterol and testosterone level decreased significantly in both groups （P 〈0.05）. Metformin plus rosiglitazone had a better effect than metformin mono-therapy. Body mass index decreased by 7.8% in metformin group while no significant change in metformin plus rosiglitazone group. There were eight pregnancies, six in rnetformin plus rosiglitazone group （one abortion） and two in metformin group. There was no congenital anomaly at birth and seven infants developed well at one year＇s follow-up.Conclusions Metformin can improve insulin resistance and imbalance of endocrine hormones. Metformin plus rosiglitazone has a more pronounced therapeutic effect and achieved more pregnancies than mono-therapy with metformin. The use of metformin and rosiglitazone before pregnancy has no obvious side effect on the development of the infants. Our study might suggest that metformin is the better choice in PCOS patients with serious obese and rosiglitazone plus metformin would be more effective in patients with severe insulin resistance or those do not respond to metformin.
基金This study was supported by a grant from the National Natural Science Foundation of China （No. 81000039）.
文摘Tricho-rhino-phalangeal syndrome （TRPS） was first reported in 1966. Although mutation of TRPS1 gene is considered to be responsible for the syndromes in 2000, investigation of bone metabolism and changes of serum insulin-like growth factor （IGF）-1 level in this kind of patients is rare. Here, we report a patient with TRPS I （MIM 190350） presenting a novel mutation （1096insA） and abnormal changes of severe osteoporosis as well as low serum IGF-I level.
