BACKGROUND Solitary rectal ulcer syndrome(SRUS)is a rare rectal disease with unknown etiology.Data on the genetic background in SRUS is lacking.CASE SUMMARY Here,we report the first case of SRUS in a mother-son relati...BACKGROUND Solitary rectal ulcer syndrome(SRUS)is a rare rectal disease with unknown etiology.Data on the genetic background in SRUS is lacking.CASE SUMMARY Here,we report the first case of SRUS in a mother-son relationship.Gene sequencing was conducted on the whole family,which revealed an inherited CHEK2 p.H371Y mutation.The experiment preliminarily revealed that the CHEK2 mutation did not affect the expression of CHEK2 protein,but affected the function of CHEK2,resulting in the expression level changes of downstream genes such as CDC25A.CONCLUSION SRUS is a genetic susceptibility disease where CHEK2 p.H371Y mutation may play a crucial role in the development and prognosis of SRUS.展开更多
Objective:To compare the clinical effect differences of biān(砭)stone hot compress combined with acupuncture at cervical Jiājǐ(夹脊EX-B2)acupoint and simple acupuncture at cervical EX-B2 for axial pain after cervic...Objective:To compare the clinical effect differences of biān(砭)stone hot compress combined with acupuncture at cervical Jiājǐ(夹脊EX-B2)acupoint and simple acupuncture at cervical EX-B2 for axial pain after cervical laminectomy with implant fixation(LIF)operation.Methods:A total of 80 patients with axial pain after cervical LIF operation were randomly assigned into the biān(砭)stone hot compress combined with acupuncture at cervical EX-B2 group(Group A)and the acupuncture at cervical EX-B2 group(Group B),and 40 patients in each group.The group A was treated by biān(砭)stone hot compress and acupuncture at cervical EX-B2,while the group B was treated by acupuncture at cervical EX-B2.Both of groups were treated once a day,one course of treatment consisted of 7 days,6-day treatment plus 1-day rest,and there were 3 courses of treatment in total.The pain score(Visual analogue scale,VAS),neck dysfunction indices(NDI),and serum creatine phosphokinase(CPK)levels of patients were compared before and after the treatment,and their clinical effects were evaluated.Results:The VAS score,NDI,and CPK in patients of the two groups after treatment were all lower than those before treatment(all P<0.05),and the indicators in the group A after treatment were all lower than those in the group B after treatment(all P<0.05).The effective rate in the group A was 92.5%,higher than that(77.5%)in the group B,and there was statistically significant difference(P<0.05).Conclusions:The biān(砭)stone hot compress combined with acupuncture at cervical EX-B2 acupoint was better than acupuncture at cervical EX-B2 alone in treatment of axial pain after cervical LIF operation.In the group A,therapeutic effects were improved by relieving pain,improving neck function,and repairing muscle injury.展开更多
基金This work was supported by the Guangdong Basic and Applied Basic Research Fund,No.2022A1515111193the Guangzhou Science and technology plan project,No.2023A04J0581.
文摘BACKGROUND Solitary rectal ulcer syndrome(SRUS)is a rare rectal disease with unknown etiology.Data on the genetic background in SRUS is lacking.CASE SUMMARY Here,we report the first case of SRUS in a mother-son relationship.Gene sequencing was conducted on the whole family,which revealed an inherited CHEK2 p.H371Y mutation.The experiment preliminarily revealed that the CHEK2 mutation did not affect the expression of CHEK2 protein,but affected the function of CHEK2,resulting in the expression level changes of downstream genes such as CDC25A.CONCLUSION SRUS is a genetic susceptibility disease where CHEK2 p.H371Y mutation may play a crucial role in the development and prognosis of SRUS.
文摘Objective:To compare the clinical effect differences of biān(砭)stone hot compress combined with acupuncture at cervical Jiājǐ(夹脊EX-B2)acupoint and simple acupuncture at cervical EX-B2 for axial pain after cervical laminectomy with implant fixation(LIF)operation.Methods:A total of 80 patients with axial pain after cervical LIF operation were randomly assigned into the biān(砭)stone hot compress combined with acupuncture at cervical EX-B2 group(Group A)and the acupuncture at cervical EX-B2 group(Group B),and 40 patients in each group.The group A was treated by biān(砭)stone hot compress and acupuncture at cervical EX-B2,while the group B was treated by acupuncture at cervical EX-B2.Both of groups were treated once a day,one course of treatment consisted of 7 days,6-day treatment plus 1-day rest,and there were 3 courses of treatment in total.The pain score(Visual analogue scale,VAS),neck dysfunction indices(NDI),and serum creatine phosphokinase(CPK)levels of patients were compared before and after the treatment,and their clinical effects were evaluated.Results:The VAS score,NDI,and CPK in patients of the two groups after treatment were all lower than those before treatment(all P<0.05),and the indicators in the group A after treatment were all lower than those in the group B after treatment(all P<0.05).The effective rate in the group A was 92.5%,higher than that(77.5%)in the group B,and there was statistically significant difference(P<0.05).Conclusions:The biān(砭)stone hot compress combined with acupuncture at cervical EX-B2 acupoint was better than acupuncture at cervical EX-B2 alone in treatment of axial pain after cervical LIF operation.In the group A,therapeutic effects were improved by relieving pain,improving neck function,and repairing muscle injury.
