Pyrimidine-5'-nucleotidase Campinas, A New Mutation (p.r56g) In The Nt5c3 Gene Associated With Pyrimidine-5'-nucleotidase Type I Deficiency And Influence Of Gilbert's Syndrome On Clinical Expression.

Pyrimidine-5'-nucleotidase type I (P5'NI) deficiency is an autosomal recessive condition that causes nonspherocytic hemolytic anemia, characterized by marked basophilic stippling and pyrimidine nucleotide accumulation in erythrocytes. We herein present two African descendant patients, father and daughter, with P5'N deficiency, both born from first cousins. Investigation of the promoter polymorphism of the uridine diphospho glucuronosyl transferase 1A (UGT1A) gene revealed that the father was homozygous for the allele (TA7) and the daughter heterozygous (TA6/TA7). P5'NI gene (NT5C3) gene sequencing revealed a further change in homozygosity at amino acid position 56 (p.R56G), located in a highly conserved region. Both patients developed gallstones; however the father, who had undergone surgery for the removal of stones, had extremely severe intrahepatic cholestasis and, liver biopsy revealed fibrosis and siderosis grade III, leading us to believe that the homozygosity of the UGT1A polymorphism was responsible for the more severe clinical features in the father. Moreover, our results show how the clinical expression of hemolytic anemia is influenced by epistatic factors and we describe a new mutation in the P5'N gene associated with enzyme deficiency, iron overload, and severe gallstone formation. To our knowledge, this is the first description of P5'N deficiency in South Americans.

Assessment Of Sleep Bruxism, Orthodontic Treatment Need, Orofacial Dysfunctions And Salivary Biomarkers In Asthmatic Children.

To evaluate the sleep bruxism, malocclusions, orofacial dysfunctions and salivary levels of cortisol and alpha-amylase in asthmatic children. 108 7-9-yr-old children were selected from Policlinic Santa Teresinha Doutor Antonio Haddad Dib (asthmatics, n=53) and from public schools (controls, n=55), Piracicaba, SP, Brazil. Sleep bruxism diagnosis was confirmed by parental report of grinding sounds and the presence of shiny and polish facets on incisors and/or first permanent molars. The index of orthodontic treatment need was used for occlusion evaluation. Orofacial dysfunctions were evaluated using the nordic orofacial test-screening (NOT-S). Salivary cortisol and alpha-amylase were expressed as awakening response (AR), calculated as the difference between levels immediately after awakening and 30min after waking, and diurnal decline (DD), calculated as the difference between levels at 30min after waking and at bedtime. Data were analyzed using Shapiro-Wilk/Kolmogorov-Smirnov, Chi-square, unpaired t test/Mann-Whitney and paired t/Wilcoxon tests. Sleep bruxism was more prevalent in children with asthma than controls (47.2% vs. 27.3%, p<0.05). Asthmatics had higher scores of NOT-S total and interview (p<0.05). Dysfunctions on sensory function and chewing and swallowing were more frequent in asthmatics (p<0.05). Salivary cortisol AR on weekend was significantly higher for asthmatics (p<0.05). Salivary cortisol DD was significantly higher on weekday than weekend for controls (p<0.05). There were no significant differences in alpha-amylase values in and between groups. The presence of asthma in children was associated with sleep bruxism, negative perception of sensory, chewing and swallowing functions, and higher concentrations of salivary cortisol on weekend.