Carrier screening model for Duchenne muscular dystrophy for women of reproductive age based on a pre-pregnancy birth defect control platform / 中华医学遗传学杂志

OBJECTIVE@#To establish a screening model for females of reproductive age carrying Duchenne muscular dystrophy (DMD) variants based on a current community health examination platform.@*METHODS@#A total of 61 870 participants were recruited between October 2017 and October 2019. Serum creatine kinase (CK) was measured with a Roche Cobasc 701/702 using an enzymatic rate method. Genetic testing was offered to those with a CK level of ≥ 200 U/L. For carriers of DMD variants, genetic counseling and follow up were provided.@*RESULTS@#For the 61 870 females participating in the program, 1078 were found with raised serum CK (≥ 200 U/L), of which 618 (57.33%) accepted CK re-measurement after at least a two-week interval. One hundred and twenty cases were found with sustained serum CK elevation, of which 6 were confirmed to be definite DMD carriers regardless of family history. Genetic testing was provided to 33 females with a family history for DMD, and 13 were determined as definite carriers. An affected fetus was detected by prenatal diagnosis. After genetic counseling, the parents had opted induced abortion.@*CONCLUSION@#Large-scale DMD carrier screening through a three-step approach based on the current community health examination platform is both feasible and cost effective.

Influence on early blood glucose of patients by 3L fluid replacement after kidney transplantation / 中国实用护理杂志

Objective To observe the influence on early blood glucose by 3 L fluid replacementafter kidney transplantation. Methods Patients(60 cases) after kidney transplantation were randomly di-vidod into two groups.Group A used circular fluid replacement and Group B used 3L fluid replacement. Thelevel of blood glucose was detected before operation,after operation ,once every 8 hours at the first day,thenonce a day for the following six days. Results The level of blood glucose with 3 L fluid replacement waslower than that with circular fluid replacement,especially from the fast day to the fourth day after operation(P < 0.05). Conclusions The method with 3 L fluid replacement surpasses obviously circular fluid re-placement in blood glucose control after kidney transplantation.