Is low Lymph Node Retrieval After Preoperative Chemoradiation for Rectal Cancer Associated with Improved Prognosis in Patients with a Good Tumor Response?
Reduced lymph node yield after preoperative chemoradiation for rectal cancer does not indicate inadequate oncologic surgery. It may represent good treatment response and better prognosis, especially in patients with good pathologic tumor regression after chemoradiation.
ATP6V0A4 and ATP6V1B1 genes were involved in recessive dRTA of Mexican families. All ATP6V1B1 mutations detected were homozygous and all patients developed sensorineural hearing loss (SNHL) early in infancy. ATP6V0A4 mutations were found in one infant and three children without SNHL, and in one teenager and one adult with SNHL confirming the phenotypic variability in this trait. The mutation p.Asp411Tyr detected in four Mexican families was due to a founder effect. Screening of these mutations could provide a rapid and valuable tool for diagnosis of dRTA in this population.