Subject(s)
Oropharyngeal Neoplasms/surgery , Oropharyngeal Neoplasms/therapy , Robotic Surgical Procedures/methods , Disease-Free Survival , Drug Therapy/methods , Humans , Margins of Excision , Multivariate Analysis , Neoplasm Staging , Papillomavirus Infections , Radiotherapy/methods , Regression Analysis , Retrospective StudiesABSTRACT
In the Ferrara district, an area south of the Po delta, four different variants of glucose-6-phosphate dehydrogenase (G6PD;E.C.1.1.49) have been described as a result of biochemical characterization of the enzyme protein: one was G6PD Mediterranean (G6PD Med) and three were local variants named Ferrara I, II, and III. The Ferrara I variant was recently analysed at the DNA level and shown to correspond to G6PD A376G/202A, while the mutations causing the variants II and III, still remain unknown. We analysed the G6PD coding region of 18 apparently unrelated G6PD deficient subjects, whose families have lived in the Ferrara district for at least three generations: 12 subjects had G6PD Med563T/1311T, 3, G6PD Santamaria376G/542T and 2, G6PD A-376G/202A. In one subject we found a new mutation, a G-->A transition at nucleotide 242 causing an Arg-->His amino-acid replacement at position 81. We named this new variant G6PD Lagosanto242 A. Phenotypically the enzyme has nearly normal kinetic properties and appears different from the variants Ferrara II and III.
Subject(s)
Genetic Variation , Glucosephosphate Dehydrogenase Deficiency/genetics , Glucosephosphate Dehydrogenase/genetics , Child , Child, Preschool , Female , Glucosephosphate Dehydrogenase Deficiency/classification , Glucosephosphate Dehydrogenase Deficiency/ethnology , Humans , Italy , Male , Point MutationABSTRACT
The daily urinary output was calculated on the basis of creatininuria, starting from an accepted formula that evaluates ClCr, employing the subject's height and creatininemia. Results are satisfactory. The new formula estimates the daily urinary volume on the basis of the mean of the three creatininuria values of the day.
