Analysis of PKHD1 gene mutation in a family affected with infantile polycystic kidney disease / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To analyze PKHD1 gene mutation in a family affected with autosomal recessive polycystic kidney disease (ARPKD).</p><p><b>METHODS</b>Genomic DNA was extracted from peripheral and cord blood samples obtained from the parents and the fetus. Potential mutations were identified using targeted exome sequencing and confirmed by Sanger sequencing. Pathogenicity of the mutation was analyzed using PolyPhen-2 and SIFT software.</p><p><b>RESULTS</b>Compound heterozygous mutations of c.11314C>T (p.Arg3772*) and a novel missense c.889T>A (p.Cys297Ser) of the PKHD1 gene were identified in the fetus. The mother was found to have carried the c.11314C>T mutation, while the father was found to have carried the c.889T>A mutation. PolyPhen-2 and SIFT predicted that the c.889T>A mutation is probably damaging.</p><p><b>CONCLUSION</b>A novel mutation in PKHD1 gene was detected in our ARPKD family. Compound heterozygous PKHD1 mutations were elucidated to be the molecular basis for the fetus affected with ARPKD, which has facilitated genetic counseling and implement of prenatal diagnosis for the family.</p>

Prognostic value of B-type natriuretic peptide in non-ST segment elevation acute coronary syndrome / 中华全科医师杂志

One hundred and five patients with non-ST segment elevation acute coronary syndrome were followed up for 1 year.They were assigned to the event group or non-event group according to the presence of endpoint events(cardiac death and nonfatM myocardial infarction).B-type natriuretic peptide level was measured at 30 days and 1 year and compared between the two groups.The results showed that the level of B-type natriuretic peptide was higher in the event group[(235±107)μg/L vs(154±49)μg/L at 30 days;(259±100)μg/L vs(143±57)μg/L at 1 year].Thus,B-type natriuretic peptide is an important prognostic factor for patients with non-ST segment elevation acute coronary syndrome.