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1.
Arch. endocrinol. metab. (Online) ; 66(3): 420-424, June 2022. graf
Artigo em Inglês | LILACS-Express | LILACS | ID: biblio-1393852

RESUMO

SUMMARY Maturity-onset diabetes of the young (MODY) is a heterogeneous group of monogenic forms of diabetes mellitus with distinct clinical features. Clinical dermatological phenotypes in MODY patients are very rare in literature. This report describes a patient with HNF1A-MODY presenting with necrobiosis lipoidica (NL) and granuloma annulare (GA). A 39-year-old asymptomatic woman, with atypical diabetes diagnosed at age 17, has a confirmed HNF1A mutation on exon 2 (c.392G>A, p.R131Q), classified as Pathogenic by the ACMG guidelines. She has reasonable metabolic control using oral anti-diabetic medications and has no chronic diabetic complications. Clinical and histologic diagnoses of both NL and GA were made. We discuss these conditions and their association with MODY.

2.
Artigo em Inglês | MEDLINE | ID: mdl-35551682

RESUMO

Maturity-onset diabetes of the young (MODY) is a heterogeneous group of monogenic forms of diabetes mellitus with distinct clinical features. Clinical dermatological phenotypes in MODY patients are very rare in literature. This report describes a patient with HNF1A-MODY presenting with necrobiosis lipoidica (NL) and granuloma annulare (GA). A 39-year-old asymptomatic woman, with atypical diabetes diagnosed at age 17, has a confirmed HNF1A mutation on exon 2 (c.392G>A, p.R131Q), classified as Pathogenic by the ACMG guidelines. She has reasonable metabolic control using oral anti-diabetic medications and has no chronic diabetic complications. Clinical and histologic diagnoses of both NL and GA were made. We discuss these conditions and their association with MODY.

3.
Front Plant Sci ; 13: 849896, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35574134

RESUMO

Limited knowledge about how nitrogen (N) dynamics are affected by climate change, weather variability, and crop management is a major barrier to improving the productivity and environmental performance of soybean-based cropping systems. To fill this knowledge gap, we created a systems understanding of agroecosystem N dynamics and quantified the impact of controllable (management) and uncontrollable (weather, climate) factors on N fluxes and soybean yields. We performed a simulation experiment across 10 soybean production environments in the United States using the Agricultural Production Systems sIMulator (APSIM) model and future climate projections from five global circulation models. Climate change (2020-2080) increased N mineralization (24%) and N2O emissions (19%) but decreased N fixation (32%), seed N (20%), and yields (19%). Soil and crop management practices altered N fluxes at a similar magnitude as climate change but in many different directions, revealing opportunities to improve soybean systems' performance. Among many practices explored, we identified two solutions with great potential: improved residue management (short-term) and water management (long-term). Inter-annual weather variability and management practices affected soybean yield less than N fluxes, which creates opportunities to manage N fluxes without compromising yields, especially in regions with adequate to excess soil moisture. This work provides actionable results (tradeoffs, synergies, directions) to inform decision-making for adapting crop management in a changing climate to improve soybean production systems.

4.
Acta Odontol Latinoam ; 34(2): 173-182, 2021 08 01.
Artigo em Inglês | MEDLINE | ID: mdl-34570866

RESUMO

The aim of this study was to compare low- and high-viscosity bulk-fill composites for Knoop microhardness (KHN), microtensile bond strength (MTBS) to dentin in occlusal cavities, and fracture strength (FS) in molars with mesialocclusal- distal restoration. Disk-shaped samples with different thicknesses (2 or 4 mm) of low-viscosity (SDR Flow, Dentsply) and high-viscosity bulk-fill composites (Filtek BulkFill, 3M ESPE; and Tetric-N Ceram Bulk Fill, Ivoclar Vivadent) were prepared for top and bottom KHN analysis (n=10). MTBS to dentin and fracture pattern was evaluated in human molars with occlusal cavities restored with (n=10): conventional nanocomposite (Z350XT, 3M ESPE), low-viscosity (Filtek Bulk-fill Flow, 3M ESPE) or high-viscosity bulk-fill composites (Filtek BulkFill). The FS and fracture pattern of human molar with mesial-occlusal-distal restorations submitted or not to thermomechanical cycling were investigated (n=10) using: intact tooth (control), and restoration based on conventional microhybrid composite (Z250, 3M ESPE), low-viscosity (SDR Flow) or high-viscosity bulk-fill composites (Filtek BulkFill). The data were submitted to split-plot ANOVA (KHN), one-way ANOVA (MTBS), two-way ANOVA (FS) followed by Tukey's test (α=0.05). For KHN, there was no significant difference for the resin composites between the top and bottom. For MTBS, no significant differences among the materials were detected; however, the low-viscosity composite presented lower frequency of adhesive failures. For FS, there was no significant difference between composites and intact tooth regardless of thermomechanical cycling. Low- and high-viscosity bulk-fill composites have comparable microhardness and microtensile bond strength when used in occlusal restorations. Likewise, the bulk-fill composites present similar fracture strength in molars with mesio-occlusal-distal restorations.


O objetivo deste estudo foi comparar resinas compostas bulk- -fill de baixa e alta viscosidade quanto à microdureza Knoop (KHN), resistência de união a microtração (MTBS) em cavidades oclusais e carga à fratura (FS) em molares com restauração mesio-oclusal-distal. Amostras em forma de disco com diferentes espessuras (2 ou 4 mm) de resinas bulk-fill de baixa viscosidade (SDR Flow, Dentsply) e alta viscosidade (Filtek BulkFill, 3M ESPE; e Tetric-N Ceram Bulk Fill, Ivoclar Vivadent) foram obtidas para análise de KHN no topo e na base (n = 10). A MTBS em dentina e o padrão de fratura foram avaliados em molares humanos com cavidades oclusais restauradas com (n = 10): resina composta nanoparticulada convencional (Z350XT, 3M ESPE), resinas bulk-fill de baixa viscosidade (Filtek Bulk-fill Flow, 3M ESPE) ou alta viscosidade (Filtek BulkFill). Foram investigados a FS e o padrão de fratura de molares humanos em restaurações mesial-ocluso-distais sub metidas ou não à ciclagem termomecânica (n = 10), sendo: dente íntegro (controle), e restaurações baseadas em resina composta microhíbrida convencional (Z250, 3M ESPE); resinas bulk-fill de baixa viscosidade (SDR Flow) ou alta viscosidade (Filtek BulkFill). Os dados foram submetidos a split-plot ANOVA (KHN), one-way ANOVA (MTBS), two-way ANOVA (FS) seguidos do teste de Tukey (α = 0,05). Para KHN, não houve diferença significativa entre o topo e a base para as resinas compostas. Para MTBS, não foram detectadas diferenças significativas entre os materiais; entretanto, a resina bulk-fill de baixa viscosidade apresentou menor frequência de falhas adesivas. Para FS, não houve diferença significativa entre os materiais e o dente íntegro, independentemente da ciclagem termomecânica. As resinas bulk-fill de baixa e alta viscosidade têm microdureza e resistência à microtração comparáveis quando usados em restaurações oclusais. Da mesma forma, as resinas bulk-fill apresentam resistência à fratura semelhante em molares com restaurações mesio-oclusal-distais.


Assuntos
Resinas Compostas , Resistência à Flexão , Humanos , Teste de Materiais , Dente Molar , Viscosidade
5.
BMC Res Notes ; 14(1): 327, 2021 Aug 26.
Artigo em Inglês | MEDLINE | ID: mdl-34446061

RESUMO

OBJECTIVES: This data article aims to introduce the "XPolaris" R-package, designed to facilitate access to detailed soil data at any geographical location within the contiguous United States (CONUS). Without the need of advanced R-programming skills, XPolaris enables users to convert raster data from the POLARIS database into traditional spreadsheet format [i.e., Comma-Separated Values (CSV)] for further data analyses. DATA DESCRIPTION: The core of this publication is a code-tutorial envisioned to assist users in retrieving soil raster data within the CONUS. All data is sourced from the POLARIS database, a 30-m probabilistic map of soil series and different soil properties [Chaney et al. Geoderma 274:54, 2016, Chaney et al. Water Resour Res 55:2916, 2019]. POLARIS represents an optimization of the Soil Survey Geographic (SSURGO) database, circumventing issues of spatial disaggregation, harmonizing, and filling spatial gaps. POLARIS was constructed using a machine learning algorithm, the Disaggregation and Harmonisation of Soil Map Units Through Resampled Classification Trees (DSMART-HPC) [Odgers et al. Geoderma 214:91, 2014]. Although the data is easily accessible in a raster format, retrieving large amounts of data can be time-consuming or require advanced programming skills.


Assuntos
Algoritmos , Solo , Estados Unidos
6.
Acta odontol. latinoam ; 34(2): 173-182, June 2021. graf
Artigo em Inglês | LILACS-Express | LILACS | ID: biblio-1339042

RESUMO

ABSTRACT The aim of this study was to compare low- and high-viscosity bulk-fill composites for Knoop microhardness (KHN), microtensile bond strength (MTBS) to dentin in occlusal cavities, and fracture strength (FS) in molars with mesialocclusal- distal restoration. Disk-shaped samples with different thicknesses (2 or 4 mm) of low-viscosity (SDR Flow, Dentsply) and high-viscosity bulk-fill composites (Filtek BulkFill, 3M ESPE; and Tetric-N Ceram Bulk Fill, Ivoclar Vivadent) were prepared for top and bottom KHN analysis (n=10). MTBS to dentin and fracture pattern was evaluated in human molars with occlusal cavities restored with (n=10): conventional nanocomposite (Z350XT, 3M ESPE), low-viscosity (Filtek Bulk-fill Flow, 3M ESPE) or high-viscosity bulk-fill composites (Filtek BulkFill). The FS and fracture pattern of human molar with mesial-occlusal-distal restorations submitted or not to thermomechanical cycling were investigated (n=10) using: intact tooth (control), and restoration based on conventional microhybrid composite (Z250, 3M ESPE), low-viscosity (SDR Flow) or high-viscosity bulk-fill composites (Filtek BulkFill). The data were submitted to split-plot ANOVA (KHN), one-way ANOVA (MTBS), two-way ANOVA (FS) followed by Tukey's test (α=0.05). For KHN, there was no significant difference for the resin composites between the top and bottom. For MTBS, no significant differences among the materials were detected; however, the low-viscosity composite presented lower frequency of adhesive failures. For FS, there was no significant difference between composites and intact tooth regardless of thermomechanical cycling. Low- and high-viscosity bulk-fill composites have comparable microhardness and microtensile bond strength when used in occlusal restorations. Likewise, the bulk-fill composites present similar fracture strength in molars with mesio-occlusal-distal restorations.


RESUMO O objetivo deste estudo foi comparar resinas compostas bulk- -fill de baixa e alta viscosidade quanto à microdureza Knoop (KHN), resistência de união a microtração (MTBS) em cavidades oclusais e carga à fratura (FS) em molares com restauração mesio-oclusal-distal. Amostras em forma de disco com diferentes espessuras (2 ou 4 mm) de resinas bulk-fill de baixa viscosidade (SDR Flow, Dentsply) e alta viscosidade (Filtek BulkFill, 3M ESPE; e Tetric-N Ceram Bulk Fill, Ivoclar Vivadent) foram obtidas para análise de KHN no topo e na base (n = 10). A MTBS em dentina e o padrão de fratura foram avaliados em molares humanos com cavidades oclusais restauradas com (n = 10): resina composta nanoparticulada convencional (Z350XT, 3M ESPE), resinas bulk-fill de baixa viscosidade (Filtek Bulk-fill Flow, 3M ESPE) ou alta viscosidade (Filtek BulkFill). Foram investigados a FS e o padrão de fratura de molares humanos em restaurações mesial-ocluso-distais sub metidas ou não à ciclagem termomecânica (n = 10), sendo: dente íntegro (controle), e restaurações baseadas em resina composta microhíbrida convencional (Z250, 3M ESPE); resinas bulk-fill de baixa viscosidade (SDR Flow) ou alta viscosidade (Filtek BulkFill). Os dados foram submetidos a split-plot ANOVA (KHN), one-way ANOVA (MTBS), two-way ANOVA (FS) seguidos do teste de Tukey (α = 0,05). Para KHN, não houve diferença significativa entre o topo e a base para as resinas compostas. Para MTBS, não foram detectadas diferenças significativas entre os materiais; entretanto, a resina bulk-fill de baixa viscosidade apresentou menor frequência de falhas adesivas. Para FS, não houve diferença significativa entre os materiais e o dente íntegro, independentemente da ciclagem termomecânica. As resinas bulk-fill de baixa e alta viscosidade têm microdureza e resistência à microtração comparáveis quando usados em restaurações oclusais. Da mesma forma, as resinas bulk-fill apresentam resistência à fratura semelhante em molares com restaurações mesio-oclusal-distais.

7.
Diabetes Res Clin Pract ; 176: 108867, 2021 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-34023340

RESUMO

AIMS: Maturity-Onset Diabetes of the Young (MODY) caused by glucokinase (GCK) mutations is characterized by lifelong mild non-progressive hyperglycemia, with low frequency of coronary artery disease (CAD) compared to other types of diabetes. The aim of this study is to estimate cardiovascular risk by coronary artery calcification (CAC) score in this group. MATERIALS AND METHODS: Twenty-nine GCK-MODY cases, 26 normoglycemic controls (recruited among non-affected relatives/spouses of GCK mutation carriers), and 24 unrelated individuals with type 2 diabetes were studied. Patients underwent CAC score evaluation by computed tomography and were classified by Agatston score ≥ or < 10. Framingham Risk scores of CAD in 10 years were calculated. RESULTS: Median [interquartile range] CAC score in GCK-MODY was 0 [0,0], similar to controls (0 [0,0], P = 0.49), but lower than type 2 diabetes (39 [0, 126], P = 2.6 × 10-5). A CAC score ≥ 10 was seen in 6.9% of the GCK group, 7.7% of Controls (P = 1.0), and 54.2% of individuals with type 2 diabetes (P = 0.0006). Median Framingham risk score was lower in GCK than type 2 diabetes (3% vs. 13%, P = 4 × 10-6), but similar to controls (3% vs. 4%, P = 0.66). CONCLUSIONS: CAC score in GCK-MODY is similar to control individuals from the same family and/or household and is significantly lower than type 2 diabetes. Besides demonstrating low risk of CAD in GCK-MODY, these findings may contribute to understanding the specific effect of hyperglycemia in CAD.


Assuntos
Cálcio/sangue , Vasos Coronários/metabolismo , Diabetes Mellitus Tipo 2/diagnóstico , Fatores de Risco de Doenças Cardíacas , Adulto , Idoso , Cálcio/análise , Doenças Cardiovasculares/sangue , Doenças Cardiovasculares/diagnóstico , Doenças Cardiovasculares/etiologia , Estudos de Casos e Controles , Vasos Coronários/química , Diabetes Mellitus Tipo 2/sangue , Diabetes Mellitus Tipo 2/complicações , Diabetes Mellitus Tipo 2/genética , Angiopatias Diabéticas/sangue , Angiopatias Diabéticas/diagnóstico , Feminino , Glucoquinase/genética , Humanos , Hiperglicemia/genética , Masculino , Pessoa de Meia-Idade , Mutação , Prognóstico , Medição de Risco , Fatores de Risco
8.
Am J Dent ; 33(4): 213-217, 2020 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-32794397

RESUMO

PURPOSE: To perform a clinical and radiographic evaluation comparing Filtek Bulk Fill high viscosity bulk-fill resins with Filtek Z350 XT nanoparticulate for 1 year. METHODS: 58 restorations were performed for each material (bulk-fill and nanoparticulate), for a total of 116 restorations. Among these, 42 Class I and 16 Class II restorations were performed for each group, in molars and premolars. Clinical evaluation was performed 7 days (baseline), 6 months and 1 year after restorations, using the World Dental Federation (FDI) criteria. Radiographs were obtained at 7 days and 1 year after the restoration was placed and the radiopacity was measured using Image J software at the same time interval. RESULTS: Of the 70 restorations available for evaluation at 1 year, the Mann-Whitney and Friedman tests showed no statistically significant difference for the FDI criteria analyzed. Greater radiopacity was observed for bulk-fill resin compared to nanoparticulate (two-way ANOVA, P= 0.022). This same test showed no difference in radiopacity between the groups in the two evaluation periods (P= 0.062). The high viscosity bulk-fill resin composite presented similar clinical performance to nanoparticulate resin in this evaluation period and higher radiopacity was observed for this material when compared to nanoparticulate resin, in both time periods. CLINICAL SIGNIFICANCE: The high viscosity bulk-fill resin composite showed similar performance to the nanoparticulate resin during the evaluation period of 1 year. Radiopacity showed high values for the bulk-fill resin when compared to nanoparticulate resin. The bulk-fill resin has potential to be used in posterior teeth.


Assuntos
Materiais Dentários , Restauração Dentária Permanente , Dente Pré-Molar , Resinas Compostas , Dente Molar , Viscosidade
9.
Diabetol Metab Syndr ; 12: 50, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32528556

RESUMO

BACKGROUND: Maturity-onset diabetes of the young (MODY) is the most common type of monogenic diabetes, being characterized by beta-cell disfunction, early onset, and autosomal dominant inheritance. Despite the rapid evolution of molecular diagnosis methods, many MODY cases are misdiagnosed as type 1 or type 2 diabetes. High costs of genetic testing and limited knowledge of MODY as a relevant clinical entity are some of the obstacles that hinder correct MODY diagnosis and treatment. We present a broad review of clinical syndromes related to most common MODY subtypes, emphasizing the role of biomarkers that can help improving the accuracy of clinical selection of candidates for molecular diagnosis. MAIN BODY: To date, MODY-related mutations have been reported in at least 14 different genes. Mutations in glucokinase (GCK), hepatocyte nuclear factor-1 homeobox A (HNF1A), and hepatocyte nuclear factor-4 homeobox A (HNF4A) are the most common causes of MODY. Accurate etiological diagnosis can be challenging. Many biomarkers such as apolipoprotein-M (ApoM), aminoaciduria, complement components, and glycosuria have been tested, but have not translated into helpful diagnostic tools. High-sensitivity C-reactive protein (hs-CRP) levels are lower in HNF1A-MODY and have been tested in some studies to discriminate HNF1A-MODY from other types of diabetes, although more data are needed. Overall, presence of pancreatic residual function and absence of islet autoimmunity seem the most promising clinical instruments to select patients for further investigation. CONCLUSIONS: The selection of diabetic patients for genetic testing is an ongoing challenge. Metabolic profiling, diabetes onset age, pancreatic antibodies, and C-peptide seem to be useful tools to better select patients for genetic testing. Further studies are needed to define cut-off values in different populations.

10.
Dent Mater ; 36(6): 724-732, 2020 06.
Artigo em Inglês | MEDLINE | ID: mdl-32359850

RESUMO

OBJECTIVES: to evaluate the probability of survival and failure modes of lithium-disilicate, feldspathic-ceramic, and resin-nanoceramic anterior veneers cemented on dentin analog substrates after sliding-contact step-stress accelerated life testing (SSALT). METHODS: A virtual incisor tooth preparation was produced with a reduction of 1.5mm at the incisal edge and of 0.7mm buccally. A .STL file of the preparation was generated and CAD/CAM based G10 dentin-analog material was used for testing. Laminate veneers were milled in three different materials: lithium-disilicate (LDS, E.max CAD), resin-nanoceramic (RN, Lava Ultimate), and feldspathic-ceramic (FELDS, Vita Blocks). SSALT was employed where a spherical indenter contacted the veneer, slided along its interface with G10 to lift off and start a new cycle at 2Hz in water. Qualitative fractography was performed. The probability of survival (90% confidence-bounds) was calculated for several load/cycle missions. RESULTS: The probability of survival for a mission of 50,000 cycles decreased from 50 up to 150N equally for all groups and were not different between them. At 200N, the probability of survival was significantly lower for FELDS (10%) compared to RN veneers (41%), whereas LDS presented intermediate values (22%). The characteristic strength of RN (247N) was significantly higher than LDS (149N), and FELDS (151N). In FELDS and LDS, hackles, wake hackles and twist hackles indicated the direction of crack propagation. In RN, hackles were observed. CONCLUSIONS: Differences in probability of survival were observed only at 180 and 200N between groups. Failure modes were similar with veneer fracture down to the tooth-analog substrate.


Assuntos
Desenho Assistido por Computador , Porcelana Dentária , Cerâmica , Falha de Restauração Dentária , Análise do Estresse Dentário , Facetas Dentárias , Teste de Materiais , Reprodutibilidade dos Testes
11.
J Esthet Restor Dent ; 32(3): 325-332, 2020 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-31622014

RESUMO

OBJECTIVE: To evaluate the influence of the degree of dentin moisture on interfacial ultramorphology and bond strength (µTBS) of universal adhesives. MATERIALS AND METHODS: Futurabond U (FBU), Scotchbond Universal (SBU), Adhese Universal (ADU), and Prime&Bond active (PBA) were used. After acid-etching, moist or over-dried dentin surfaces were tested. Teeth were restored for scanning and transmission electron microscopy (n = 3) and µTBS evaluation (n = 5). µTBS results were analyzed by two-way ANOVA and Tukey. RESULTS: For moist dentin, a well-formed hybrid layer (HL) was observed. However, when applied to over-dried dentin, remarkable differences were observed. Defects, gaps, and reduced HL thickness were observed mainly for ADU and FBU. When applied to wet dentin, µTBS values were similar for all adhesives, except for FBU, which was significantly lower. When applied to over-dried dentin, PBA presented the highest µTBS values, followed by SBU, ADU, and FBU. ADU presented significantly lower µTBS when applied to over-dried dentin. CONCLUSION: PBA, SBU, and FBU µTBS values were not sensitive to the degree of moisture. Even though application to over-dried dentin revealed defects, gaps and reduced HL thickness for SBU, ADU, and FBU, µTBS analysis only revealed a significant reduction for ADU. CLINICAL SIGNIFICANCE: Universal adhesives can be applied in either self-etching or etch-and-rinse mode. However, clinicians are not aware which universal adhesives should be strictly applied on a moist dentin for bonding in the etch-and-rinse mode.


Assuntos
Colagem Dentária , Adesivos Dentinários , Resinas Compostas , Cimentos Dentários , Dentina , Teste de Materiais , Cimentos de Resina , Resistência à Tração
12.
Mol Genet Genomic Med ; 7(12): e962, 2019 12.
Artigo em Inglês | MEDLINE | ID: mdl-31595705

RESUMO

BACKGROUND: Maturity-onset diabetes of the young (MODY) is a form of monogenic diabetes with autosomal dominant inheritance. To date, mutations in 11 genes have been frequently associated with this phenotype. In Brazil, few cohorts have been screened for MODY, all using a candidate gene approach, with a high prevalence of undiagnosed cases (MODY-X). METHODS: We conducted a next-generation sequencing target panel (tNGS) study to investigate, for the first time, a Brazilian cohort of MODY patients with a negative prior genetic analysis. One hundred and two patients were selected, of which 26 had an initial clinical suspicion of MODY-GCK and 76 were non-GCK MODY. RESULTS: After excluding all benign and likely benign variants and variants of uncertain significance, we were able to assign a genetic cause for 12.7% (13/102) of the probands. Three rare MODY subtypes were identified (PDX1/NEUROD1/ABCC8), and eight variants had not been previously described/mapped in genomic databases. Important clinical findings were evidenced in some cases after genetic diagnosis, such as MODY-PDX1/HNF1B. CONCLUSION: A multiloci genetic approach allowed the identification of rare MODY subtypes, reducing the large percentage of MODY-X in Brazilian cases and contributing to a better clinical, therapeutic, and prognostic characterization of these rare phenotypes.


Assuntos
Diabetes Mellitus Tipo 2/genética , Testes Genéticos/métodos , Sequenciamento de Nucleotídeos em Larga Escala/métodos , Adolescente , Adulto , Fatores de Transcrição Hélice-Alça-Hélice Básicos/genética , Brasil , Estudos de Coortes , Feminino , Predisposição Genética para Doença , Proteínas de Homeodomínio/genética , Humanos , Masculino , Análise de Sequência de DNA , Receptores de Sulfonilureias/genética , Transativadores/genética , Adulto Jovem
13.
Arch. endocrinol. metab. (Online) ; 63(3): 250-257, May-June 2019. tab, graf
Artigo em Inglês | LILACS | ID: biblio-1011159

RESUMO

ABSTRACT Objective To verify the presence of variants in HNF1B in a sample of the Brazilian population selected according to the presence of renal cysts associated with hyperglycemia. Subjects and methods We evaluated 28 unrelated patients with clinical suspicion of HNF1B mutation because of the concomitant presence of diabetes mellitus (DM) or prediabetes and renal cysts. Genotyping was accomplished using Sanger sequencing or multiplex ligation-dependent probe amplification (MLPA). In positive cases, available relatives were recruited. Results We found two patients with HNF1B mutations. The first presented the variant p.Pro328Leufs*48(c.983delC) and had DM, renal cysts, and hypomagnesemia. The second presented a heterozygous whole gene deletion in HNF1B, DM, renal cysts, body and tail pancreatic agenesis, and hypomagnesemia; this alteration was also found in his two siblings and his father. Conclusion The recruitment of suspected cases of HNF1B gene mutations in Brazilians due to hyperglycemia and renal cysts presents two positive cases. Our cases contribute to the annotation of clinical and biochemical phenotypes of this rare form of maturity-onset diabetes of the young (MODY).


Assuntos
Humanos , Adulto , Pessoa de Meia-Idade , Nefropatias Diabéticas/genética , Doenças Renais Císticas/genética , Fator 1-beta Nuclear de Hepatócito/genética , Hiperglicemia/genética , Mutação , Fenótipo , Polimorfismo Genético/genética , Brasil , Estudos de Coortes , Deleção de Genes , Nefropatias Diabéticas/complicações , Doenças Renais Císticas/complicações , Hiperglicemia/complicações
14.
Arch Endocrinol Metab ; 63(3): 250-257, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31066763

RESUMO

OBJECTIVE: To verify the presence of variants in HNF1B in a sample of the Brazilian population selected according to the presence of renal cysts associated with hyperglycemia. SUBJECTS AND METHODS: We evaluated 28 unrelated patients with clinical suspicion of HNF1B mutation because of the concomitant presence of diabetes mellitus (DM) or prediabetes and renal cysts. Genotyping was accomplished using Sanger sequencing or multiplex ligation-dependent probe amplification (MLPA). In positive cases, available relatives were recruited. RESULTS: We found two patients with HNF1B mutations. The first presented the variant p.Pro328Leufs*48(c.983delC) and had DM, renal cysts, and hypomagnesemia. The second presented a heterozygous whole gene deletion in HNF1B, DM, renal cysts, body and tail pancreatic agenesis, and hypomagnesemia; this alteration was also found in his two siblings and his father. CONCLUSION: The recruitment of suspected cases of HNF1B gene mutations in Brazilians due to hyperglycemia and renal cysts presents two positive cases. Our cases contribute to the annotation of clinical and biochemical phenotypes of this rare form of maturity-onset diabetes of the young (MODY).


Assuntos
Nefropatias Diabéticas/genética , Fator 1-beta Nuclear de Hepatócito/genética , Hiperglicemia/genética , Doenças Renais Císticas/genética , Mutação , Adulto , Brasil , Estudos de Coortes , Nefropatias Diabéticas/complicações , Deleção de Genes , Humanos , Hiperglicemia/complicações , Doenças Renais Císticas/complicações , Pessoa de Meia-Idade , Fenótipo , Polimorfismo Genético/genética
15.
J Esthet Restor Dent ; 30(4): 346-351, 2018 07.
Artigo em Inglês | MEDLINE | ID: mdl-29766651

RESUMO

OBJECTIVE: To test the effects of different adhesive protocols and silane application on the adhesive durability to a Lithium Disilicate reinforced glass ceramic. METHODS: Forty disks of 13 mm diameter (E.max Press) were used. After etching with 9.5% HF for 20 seconds, disks were randomly assigned into 4 groups according to the adhesive/silane protocol: silane application only (SIL); silane application followed by adhesive (SILXP-XP Bond); silane-containing adhesive (SBU-ScotchBond Universal); silane application followed by silane-containing adhesive (SILSBU). Four resin composite cylinders of 1-mm diameter and 3-mm height were made on each ceramic disk and tested in shear. Specimens were stored in water for 24 hours or 12 months prior to testing. Results were statistically analyzed by two-way ANOVA and Tukey test. RESULTS: After 24 hours, the highest SBS values were observed for SILXP and SILSBU. However, after 12 months, SILXP and SILSBU presented a significant reduction in SBS, while the highest SBS were observed for SIL. For SBU, no significant reduction in SBS was observed, however, it showed the lowest SBS after 12 months. CONCLUSIONS: Regardless of the presence of silane in the composition of SBU, previous silane application is still recommended prior to cementation of Lithium Disilicate. CLINICAL SIGNIFICANCE: The application of silane as a separate step is recommended prior to cementation of Lithium Disilicate reinforced glass-ceramic, independent of the presence of silane within the universal adhesive solution.


Assuntos
Colagem Dentária , Silanos , Cerâmica , Cimentos Dentários , Porcelana Dentária , Teste de Materiais , Cimentos de Resina , Propriedades de Superfície
16.
Dent Mater J ; 37(1): 33-39, 2018 Jan 30.
Artigo em Inglês | MEDLINE | ID: mdl-29081446

RESUMO

This study evaluated the influence of different light-curing modes on the volumetric polymerization shrinkage and degree of conversion of a composite resin at different locations using micro-computed tomography and Fourier transform infrared spectroscopy (FTIR). Specimens were divided into 4 groups based on the light-curing mode used (Bluephase 20i): 1 -High (1,200 mW/cm2); 2 -Low (650 mW/cm2); 3 -Soft-start (650-1,200 mW/cm2); and 4 -Turbo (2,000 mW/cm2). Degree of conversion was calculated by the measurement of the peak absorbance height of the uncured and cured materials at the specific wavenumbers, and was performed by FTIR 48 h after curing resin samples. Degree of conversion was analyzed using two-way ANOVA. No significant differences were observed independent of the region of the restoration investigated (p>0.05). Different curing modes did not influence volumetric shrinkage neither degree of conversion of class I composite resin restorations.


Assuntos
Resinas Compostas/química , Cura Luminosa de Adesivos Dentários/métodos , Microtomografia por Raio-X , Resinas Acrílicas , Luzes de Cura Dentária , Análise do Estresse Dentário , Dureza , Hemisferectomia , Teste de Materiais , Polimerização , Espectroscopia de Infravermelho com Transformada de Fourier , Propriedades de Superfície
17.
Arch. endocrinol. metab. (Online) ; 61(6): 637-642, Dec. 2017. tab, graf
Artigo em Inglês | LILACS | ID: biblio-887620

RESUMO

SUMMARY Identification of the correct etiology of diabetes brings important implications for clinical management. In this report, we describe a case of a 4-year old asymptomatic girl with diabetes since age 2, along with several individuals in her family with different etiologies for hyperglycemia identified in youth. Genetic analyses were made by Sanger sequencing, laboratory measurements included HbA1c, lipid profile, fasting C-peptide, pancreatic auto-antibodies (glutamic acid decarboxylase [GAD], Islet Antigen 2 [IA-2], and anti-insulin). We found a Gly178Ala substitution in exon 5 of GCK gene in three individuals co-segregating with diabetes, and type 1 diabetes was identified in two other individuals based on clinical and laboratory data. One individual with previous gestational diabetes and other with prediabetes were also described. We discuss difficulties in defining etiology of hyperglycemia in youth in clinical practice, especially monogenic forms of diabetes, in spite of the availability of several genetic, laboratory, and clinical tools.


Assuntos
Humanos , Masculino , Feminino , Pré-Escolar , Adulto , Pessoa de Meia-Idade , Idoso , Proteínas Serina-Treonina Quinases/genética , Predisposição Genética para Doença , Diabetes Mellitus/genética , Fator 1-alfa Nuclear de Hepatócito/genética , Fator 4 Nuclear de Hepatócito/genética , Linhagem , Testes Genéticos , Diabetes Mellitus/classificação , Quinases do Centro Germinativo , Genótipo , Mutação
18.
Arch. endocrinol. metab. (Online) ; 61(6): 614-622, Dec. 2017. graf
Artigo em Inglês | LILACS | ID: biblio-887618

RESUMO

ABSTRACT Elevated hepatic glucose production, impaired insulin secretion, and insulin resistance - abnormalities of glucose metabolism typically found in subjects with obesity - are major factors underlying the pathogenesis of type 2 diabetes (DM2) and the metabolic syndrome (MS). Adiponectin is a major regulator of glucose and lipid homeostasis via its insulin-sensitizing properties, and lower levels seems to be associated with the development of DM2 and MS. The purpose of this review is to clarify the mechanisms whereby adiponectin relates to the development of DM2 and MS and the association between polymorphisms of the adiponectin gene, circulating levels of the hormone, and its relationships with DM2. In addition, the impact of dietary lipids in the circulating levels of adiponectin will be addressed. According to the literature, circulating adiponectin levels seem to decrease as the number of MS components increases. Lower adiponectin concentrations are associated with higher intra-abdominal fat content. Therefore, adiponectin could link intra-abdominal fat with insulin resistance and development of MS. Therapeutic strategies that target the MS and its components, such as lifestyle modification through physical activity and weight loss, have been shown to increase adiponectin concentrations. Possible roles of diets containing either low or high amounts of fat, or different types of fat, have been analyzed in several studies, with heterogeneous results. Supplementation with n-3 PUFA modestly increases adiponectin levels, whereas conjugated linoleic acid supplementation appears to reduce concentrations when compared with unsaturated fatty acid supplementation used as an active placebo.


Assuntos
Humanos , Síndrome Metabólica/etiologia , Diabetes Mellitus Tipo 2/etiologia , Adiponectina/metabolismo , Glucose/metabolismo , Síndrome Metabólica/metabolismo , Diabetes Mellitus Tipo 2/metabolismo
19.
Diabetes Res Clin Pract ; 123: 134-142, 2017 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-28012402

RESUMO

AIMS: Maturity-Onset Diabetes of the Young (MODY) comprises a heterogeneous group of monogenic forms of diabetes caused by mutations in at least 14 genes, but mostly by mutations in Glucokinase (GCK) and hepatocyte nuclear factor-1 homeobox A (HNF1A). This study aims to establish a national registry of MODY cases in Brazilian patients, assessing published and unpublished data. METHODS: 311 patients with clinical characteristics of MODY were analyzed, with unpublished data on 298 individuals described in 12 previous publications and 13 newly described cases in this report. RESULTS: 72 individuals had GCK mutations, 9 described in Brazilian individuals for the first time. One previously unpublished novel GCK mutation, Gly178Ala, was found in one family. 31 individuals had HNF1A mutations, 2 described for the first time in Brazilian individuals. Comparisons of GCK probands vs HNF1A: age 16±11 vs 35±20years; age at diagnosis 11±8 vs 21±7years; BMI 19±6 vs 25±6kg/m2; sulfonylurea users 5 vs 83%; insulin users 5 vs 17%; presence of arterial hypertension 0 vs. 33%, all p<0.05. No differences were observed in lipids and C-peptide. CONCLUSIONS: Most MODY cases in Brazil are due to GCK mutations. In agreement with other studied populations, novel mutations are common. Only 14% of patients with familial diabetes carry a HNF1A mutation. Diagnosis of other rare forms of MODY is still a challenge in Brazilian population, as well as adequate strategies to screen individuals for molecular diagnosis.


Assuntos
Diabetes Mellitus Tipo 2/genética , Fator 1-alfa Nuclear de Hepatócito/genética , Adolescente , Adulto , Brasil , Diabetes Mellitus Tipo 2/diagnóstico , Feminino , Humanos , Masculino , Sistema de Registros , Adulto Jovem
20.
J Esthet Restor Dent ; 29(2): 118-127, 2017 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-27925387

RESUMO

PURPOSE: This study aimed to quantify polymerization shrinkage of one conventional and three bulk-fill composites, under bonded and unbonded conditions, in Class II preparations using 3D microcomputed tomography (µCT) and report its location. MATERIALS AND METHODS: Preparations (2.5 mm occlusal depth × 4 mm wide × 4 mm mesial box and 1 mm beyond the CEJ distal box depth) were made in 48 human extracted molars (n = 6). Four composites were tested, one regular (Vitalescence/VIT) and three bulk-fill: SureFil SDR Flow (SDR), Tetric EvoCeram Bulk Fill (TET), and Filtek flowable Bulk Fill (FIL). Teeth were divided into four groups according to restorative material used and subdivided into two subgroups, according to the presence of an adhesive system (XP Bond) application (bonded [-B]) or its absence (unbonded [-U]). Each tooth was scanned three times: (1) after cavity preparation, (2) before and (3) after composite light-curing. Acquired µCT images were imported into 2D and 3D software for analysis. RESULTS: Significantly different volumetric shrinkage between bonded and unbonded conditions was observed only for TET group (p < 0.05), unbonded presenting significantly higher volumetric shrinkage. Among the bonded groups, TET-B presented significantly lower shrinkage than both SDR-B and FIL-B but not significantly different from VIT-B. Generally, shrinkage occurred at occlusal and distal surfaces. CONCLUSIONS: When applied to bonded Class II cavities, TET exhibited significantly lower volumetric shrinkage compared to the other bulk-fill composites. However, it also exhibited the highest difference of volumetric shrinkage values between unbonded and bonded cavities. CLINICAL SIGNIFICANCE: Volumetric polymerization shrinkage occurred with all composites tested, regardless of material type (conventional or bulk-fill) or presence or absence of bonding. However, volumetric shrinkage has been reduced or at least maintained when bulk-fill composites were used compared to a conventional composite resin, which makes them a potential time saving alternative for clinicians. (J Esthet Restor Dent 29:118-127, 2017).


Assuntos
Cárie Dentária/diagnóstico por imagem , Cárie Dentária/patologia , Microtomografia por Raio-X/métodos , Resinas Compostas/química , Humanos , Polimerização
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