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.

Kinesiographic Study Of Masticatory Movements In Denture Wearers With Normal And Resorbed Denture-bearing Areas.

An unfavorable denture-bearing area could compromise denture retention and stability, limit mastication, and possibly alter masticatory motion. The purpose of this study was to evaluate the masticatory movements of denture wearers with normal and resorbed denture-bearing areas. Completely edentulous participants who received new complete dentures were selected and divided into 2 groups (n=15) according to the condition of their denture-bearing areas as classified by the Kapur method: a normal group (control) (mean age, 65.9 ± 7.8 years) and a resorbed group (mean age, 70.2 ± 7.6 years). Masticatory motion was recorded and analyzed with a kinesiographic device. The patients masticated peanuts and Optocal. The masticatory movements evaluated were the durations of opening, closing, and occlusion; duration of the masticatory cycle; maximum velocities and angles of opening and closing; total masticatory area; and amplitudes of the masticatory cycle. The data were analyzed by 2-way ANOVA and the Tukey honestly significant difference post hoc test (α=.05). The group with a resorbed denture-bearing area had a smaller total masticatory area in the frontal plane and shorter horizontal masticatory amplitude than the group with normal denture-bearing area (P<.05). Denture wearers with resorbed denture-bearing areas showed reduced jaw motion during mastication.

Chronic Telogen Effluvium And Female Pattern Hair Loss Are Separate And Distinct Forms Of Alopecia: A Histomorphometric And Immunohistochemical Analysis.

Chronic telogen effluvium (CTE), a poorly understood condition, can be confused with or may be a prodrome to female pattern hair loss (FPHL). The pathogenesis of both is related to follicle cycle shortening and possibly to blood supply changes. To analyze a number of histomorphometric and immunohistochemical findings through vascular endothelial growth factor (VEGF), Ki-67, and CD31 immunostaining in scalp biopsies of 20 patients with CTE, 17 patients with mild FPHL and 9 controls. Ki-67 index and VEGF optical density were analyzed at the follicular outer sheath using ImageJ software. CD31 microvessel density was assessed by a Chalkley grid. Significant follicle miniaturization and higher density of nonanagen follicles were found in FPHL, compared with patients with CTE and controls. Ki-67+ index correlated positively with FPHL histological features. The FPHL group showed the highest VEGF optical density, followed by the CTE and control groups. No differences were found in CD31 microvessel density between the three groups. Histomorphometric results establish CTE as a distinct disorder, separate from FPHL from its outset. Its pathogenic mechanisms are also distinct. These findings support the proposed mechanism of 'immediate telogen release' for CTE, leading to cycle synchronization. For FPHL, accelerated anagen follicular mitotic rates and, thus, higher Ki-67 and VEGF values, would leave less time for differentiation, resulting in hair miniaturization.

Interplay Between Cell Growth And Cell Cycle In Plants.

The growth of organs and whole plants depends on both cell growth and cell-cycle progression, but the interaction between both processes is poorly understood. In plants, the balance between growth and cell-cycle progression requires coordinated regulation of four different processes: macromolecular synthesis (cytoplasmic growth), turgor-driven cell-wall extension, mitotic cycle, and endocycle. Potential feedbacks between these processes include a cell-size checkpoint operating before DNA synthesis and a link between DNA contents and maximum cell size. In addition, key intercellular signals and growth regulatory genes appear to target at the same time cell-cycle and cell-growth functions. For example, auxin, gibberellin, and brassinosteroid all have parallel links to cell-cycle progression (through S-phase Cyclin D-CDK and the anaphase-promoting complex) and cell-wall functions (through cell-wall extensibility or microtubule dynamics). Another intercellular signal mediated by microtubule dynamics is the mechanical stress caused by growth of interconnected cells. Superimposed on developmental controls, sugar signalling through the TOR pathway has recently emerged as a central control point linking cytoplasmic growth, cell-cycle and cell-wall functions. Recent progress in quantitative imaging and computational modelling will facilitate analysis of the multiple interconnections between plant cell growth and cell cycle and ultimately will be required for the predictive manipulation of plant growth.

Characterization Of Morphology And Composition Of Inorganic Fillers In Dental Alginates.

Energy dispersive X-ray spectroscopy microanalysis (EDX), scanning electron microscopy (SEM), and Archimedes' Principle were used to determine the characteristics of inorganic filler particles in five dental alginates, including Cavex ColorChange (C), Hydrogum 5 (H5), Hydrogum (H), Orthoprint (O), and Jeltrate Plus (JP). The different alginate powders (0.5 mg) were fixed on plastic stubs (n = 5) and sputter coated with carbon for EDX analysis, then coated with gold, and observed using SEM. Volume fractions were determined by weighing a sample of each material in water before and after calcining at 450(°)C for 3 h. The alginate materials were mainly composed of silicon (Si) by weight (C-81.59%, H-79.89%, O-78.87%, H5-77.95%, JP-66.88%, wt). The filler fractions in volume (vt) were as follows: H5-84.85%, JP-74.76%, H-70.03%, O-68.31%, and C-56.10%. The tested materials demonstrated important differences in the inorganic elemental composition, filler fraction, and particle morphology.

[lay Agency And Healthcare: Producing Healthcare Maps].

This study aimed to characterize which regulatory logics (other than government regulation) result in healthcare output, using a two-stage qualitative study in two municipalities in the ABCD Paulista region in São Paulo State, Brazil. The first stage included interviews with strategic actors (managers and policymakers) and key health professionals. The second phase collected life histories from 18 individuals with high health-services utilization rates. An analysis of the researchers' involvement in the field allowed a better understanding of the narratives. Four regulatory systems were characterized (governmental, professional, clientelistic, and lay), indicating that regulation is a field in constant dispute, a social production. Users' action produces healthcare maps that reveal the existence of other possible health system arrangements, calling on us to test shared management of healthcare between health teams and users as a promising path to the urgent need to reinvent health.