RESUMEN
Atrial fibrillation (AF), the most common type of cardiac rhythm disturbance encountered in clinical practice, is associated with substantially increased morbidity and mortality. Aggregating evidence demonstrates that abnormal cardiovascular development is involved in the pathogenesis of AF. A recent study has revealed that the TBX5 gene, which encodes a T-box transcription factor key to cardiovascular development, was associated with AF and atypical Holt-Oram syndrome. However, the prevalence and spectrum of TBX5 mutation in patients with lone AF remain unclear. In this study, the coding regions and splicing junction sites of TBX5 were sequenced in 192 unrelated patients with lone AF and 300 unrelated ethnically-matched healthy individuals used as controls. The causative potential of the identified TBX5 variation was evaluated by MutationTaster and PolyPhen-2. The functional effect of the mutant TBX5 was assayed by using a dual-luciferase reporter assay system. As a result, a novel heterozygous TBX5 mutation, p.H170D, was identified in a patient, with a mutational prevalence of approximately 0.52%. This mutation, which was absent in the 300 control individuals, altered the amino acid completely conserved evolutionarily across species, and was predicted to be disease-causing. Functional deciphers showed that the mutant TBX5 was associated with significantly reduced transcriptional activity when compared with its wild-type counterpart. Furthermore, the mutation significantly decreased the synergistic activation between TBX5 and NKX2-5 or GATA4. The findings expand the mutational spectrum of TBX5 linked to AF and provide new evidence that dysfunctional TBX5 may contribute to lone AF.
Asunto(s)
Fibrilación Atrial/genética , Predisposición Genética a la Enfermedad , Mutación/genética , Proteínas de Dominio T Box/genética , Adulto , Secuencia de Aminoácidos/genética , Fibrilación Atrial/patología , Femenino , Heterocigoto , Humanos , Masculino , Persona de Mediana EdadRESUMEN
OBJECTIVE: To evaluate the clinical effect of single-port laparoscopic ligation (SPLL) with suture silk for the management of varicocele. METHODS: We analyzed the clinical effects of SPLL with suture silk in the treatment of 20 cases of varicocele, and compared them with those of conventional three-port laparoscopic ligation (TPLL) for another 24 varicocele patients. RESULTS: All the operations were successful. The operation time was 20-35 (mean 28) minutes and the hospital stay was 2 days for SPLL, as compared with 15-28 (mean 20) minutes and 3 days for TPLL. The cure rate was 75% for the former, and 67% for the latter, with no signification difference between the two groups (P > 0.05). CONCLUSION: SPLL with suture silk for the treatment of varicocele has more advantages over TPLL for minimal invasiveness, faster recovery, and less scarring and extraneous residual.