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Biomedical subjects

C Cui

Publications and source records attributed to C Cui.

6 recordsLinked to original sources
PubMed1991

Identification of a single missense mutation in the adenine phosphoribosyltransferase (APRT) gene from five Icelandic patients and a British patient.

We have completely sequenced the adenine phosphoribosyltransferase (APRT) gene from each of six patients--five (I-V) from Iceland and one (VI) from Britain. Cases I and II shared a common ancestor six and seven generations ago, and cases I and V shared a common ancestor seven generations ago, but cases III and IV were unrelated to the above or to each other, over seven generations. Genomic DNA was amplified by PCR, subcloned into M13mp18, and sequenced. Genomic and PCR-amplified DNAs were also analyzed by restriction-enzyme digestion and Southern blotting. The same missense mutation was identified in all six patients. This mutation leads to the replacement of asp (GAC) by val (GTC), at amino acid position 65. The gene sequences from all patients were otherwise identical to our wild-type sequence. The homozygous nature of the mutation was confirmed by sequencing the PCR product directly. All six patients were homozygous for the 1.25-kb TaqI RFLP. The Icelandic patients were also homozygous for the 8-kb SphI RFLP, but the British patient was heterozygous at this site. These studies suggest that a founder effect is likely to be responsible for APRT deficiency in the Icelandic population. The finding of the same mutation in a patient from Britain suggests that this mutation may have originated in mainland Europe.

Adenine Phosphoribosyltransferase↗
PubMed1991

[Clinical types of trifascicular block and a follow-up study of pacemaker application].

UNLABELLED: Thirty five patients (pts) with trifascicular block (TFB) were followed up for 5 years, and indication of pacemaker and clinical types of TFB were discussed. All of the 35 pts were diagnosed with clinical, ECG monitoring and His bundle electrogram (HBE) and classified into 4 groups: (1) acute transient TFB (3 cases) characterized by RBBB + LAHB + I or II AVB, caused by acute myocarditis or AMI, recovered with medicinal treatment; (2) 4 cases of acute advanced TFB characterized by RBBB + LAHB or LAPB + III AVB with severe symptoms such as syncope and Adams-Stokes syndrome; (3) 12 cases of chronic TFB characterized by RBBB + LAHB or LPHB + I, II or III AVB, with 40 beats/min lower heart rate and severe symptoms; (4) 18 cases of chronic advanced TFB characterized by RBBB + LAHB or LPHB + 1, 11 or III AVB, with severe symptoms. The 32 pts in groups 2, 3, and 4 were treated with implanted pacemakers and recovered very well. 29 pts are still well with pacemakers, and 5 cases with cardiomyopathy died due to chronic heart failure during the follow-up period of 5 years. CONCLUSION: all of the pts with TFB and severe symptoms treated with pacemakers were appropriate, and are living well except those with chronic heart failure.

Bundle-Branch Block↗