Clinical characteristics and genetic counseling for a three-generation Chinese pedigree with recurrent fetal Kabuki syndrome due to variant of KDM6A gene / 中华医学遗传学杂志

OBJECTIVE@#To explore the genetic basis for a pregnant woman with a history of adverse pregnancy outcomes.@*METHODS@#A woman with an adverse history of pregnancies including one fetal demise and two induced abortions due to fetal diaphragmatic hernia and complex cardiac anomalies was selected as the study subject. Muscle tissue from the induced abortus was subjected to whole exome sequencing, and candidate variant was verified by Sanger sequencing of the couple and other family members.@*RESULTS@#Genetic sequencing revealed that the fetus has harbored a frameshift variant of the KDM6A gene (NM_001291415.2), namely c.1228_1229del (p.Gln410GlufsTer2), which was inherited from the woman and her mother. The variant was unreported previously, and the woman was found to have short stature, sparse eyebrows in the outer third, peculiar facial features, but normal intelligence in addition with female congenital genital malformation, like incomplete vaginal septum, double cervix, double uterus, and unilateral ovary absence. mostly similar phenotypes observed in her mother.@*CONCLUSION@#The hemizygous c.1228_1229del variant of the KDM6A gene probably underlay the abnormalities in the fetus. All findings have enabled genetic counseling for this family featuring X-linked inheritance, and the woman had given birth to a healthy girl with appropriate prevention and intervention.

Analysis on application effect of Android-based cardiac rehabilitation risk assessment software in the patients with coronary heart disease / 重庆医学

Objective To investigate the compliableness and cardiac rehabilitation effect of application of the Android‐based cardiac rehabilitation risk assessment simulative software in the patients with coronary heart disease (CHD) .Methods A total of 150 discharge patients with CHD treated in the cardiology department of multiple hospitals in Guangzhou City from December 2014 to December 2015 were selected as the research subjects and divided into the observation group for applying the Android‐based car‐diac rehabilitation risk assessment software and control group according to the random number table ,75 cases in each group .The compliableness and cardiac rehabilitation effect after this software out‐of‐hospital application in the CHD patients were observed . Results Among 150 cases ,141 cases continued to follow up ,the follow up rate was 94 .0% ,including 72 cases in the observation group and 69 cases in the control group ,the re‐hospitalization rate and the standard‐reaching rate of blood pressure ,blood glucose and blood lipid in the observation group were superior to those in the control group with statistical difference (P<0 .05);the com‐pliableness of behaviors following doctor′s advice and comprehensive evaluation of living quality in the observation group were su‐perior to those in the control group ,and the differences were statistically significant (P<0 .05) .Conclusion The application of the Android‐based cardiac rehabilitation risk assessment software is an effective measure for out‐of‐hospital cardiac rehabilitation , which can increase the compliableness of cardiac rehabilitation in the CHD patients .