Time series of the health system dynamics for the diagnosis of tuberculosis in a metropolitan region of the Brazilian Northeast (2010-2020) / Série temporal da dinâmica do sistema de saúde para o diagnóstico de tuberculose em uma região metropolitana do nordeste brasileiro (2010-2020)

Objective: To analyze the dynamics of the health system for the diagnosis of tuberculosis in a metropolitan region of a Northeast Brazilian state. Methods: Ecological time series study conducted in São Luís, Maranhão State, Northeast region of Brazil. The study population was composed of tuberculosis cases notified in the Notifiable Dis-eases Information System (SINAN) in the period from 2010 to 2020. The descriptive statistics of the cases was performed using absolute and relative frequency measures, and Pearson's Chi-square test was used to compare the frequencies between the cases notified in Primary Health Care (PHC) and hospital units and the sociodemographic and clinical characterization. For time series analysis, the Prais-Winsten autoregression model was used, followed by the decomposition method called Seasonal-Trend decomposition using LOESS (STL), ending with the time trend prediction for the next years. The data were analyzed using the resources of the computer programs named Sta-ta, version 17 (StataCorp, College Station, TX, USA) and R, version 3.5.2 (R Core Team, 2020). Results: A total of 7,948 cases diagnosed with tuberculosis were notified, of which 1,608 were notified in Primary Care units and 6,340 in hospital units. The Chi-square test resulted in a relative frequency calculated considering the total number of patients who had results from each examination with statistically significant differences (p < 0.05). Conclusion: It was possible to observe different time trends between diagnoses performed by PHC and hospitals. In the time analysis and modeling, there was an increase in cases notified in PHC and stationary in hospitals; how-ever, in the time modeling, there was a reduction in the number of cases in hospital (AU).

Objetivo: Analisar a dinâmica do sistema de saúde para o diagnóstico de tuberculose em região metropolitana de um estado do nordeste brasileiro. Métodos: Estudo ecológico de série temporal realizado em São Luís, no Estado do Maranhão, região Nordeste do Brasil. A população do estudo foi composta casos de tuberculose notificados no Sistema de Informação de Agravos de Notificação (SINAN) no período de 2010 a 2020. A estatística descritiva dos casos foi realizada utilizando medidas de frequência absoluta e relativa e o teste Qui­quadrado de Pearson foi utilizado para comparar as frequências entre os casos notificados em unidades de Atenção Primária a Saúde (APS) e hospitalares e a caracterização sociodemográfica e clínica. Para análise da série temporal, recorreu-se ao modelo de autorregressão Prais­Winsten, seguido do método de decomposição denominado Seasonal­Trend using Loess (STL), finalizando com a previsão da tendência temporal para os próximos anos. Os dados foram analisados utilizando os recursos do software Stata versão 17 (StataCorp, College Station, TX, USA) e R versão 3.5.2 (R Core Team, 2020). Resultados: Foram notificados 7.948 casos com diagnóstico de tuberculose, sendo 1.608 notificados em unidades de Atenção Primária e 6.340 em unidades Hospitalares. O teste Qui­quadrado resultou na frequência relativa calculada considerando o total de paciente que possuíam resultados de cada exame com diferenças estatisticamente significantes (p < 0,05). Conclusão: Foi possível observar tendência temporal diferenciada entre o diagnóstico realizado pela APS e hospitais. Na análise e modelagem temporal houve aumento nos casos notificados na APS e estacionário nos hospitais, entretanto, na modelagem temporal houve redução do número de casos nos hospitai (AU).

Healthy lifestyle and genomic ancestry related to good glycemic control in type 1 diabetes patients from Northeastern Brazil: a hierarchical analysis.

Introduction: This study aimed to investigate the sociodemographic factors, dietary adherence, regular physical activity, and genomic ancestry percentage associated with good glycemic control in Brazilian patients with type 1 diabetes (T1D) using a hierarchical approach. Methods: A cross-sectional study was conducted in 152 T1D patients. Glycated hemoglobin (HbA1C) levels were measured to evaluate the glycemic control status (good, moderate, or poor). Independent factors included sex, age, self-reported skin color, educational level, family income, dietary patterns, and physical activity. The percentage of genomic ancestry (Native American, European, and African) was influenced by a panel of 46 autosomal insertion/deletion ancestry markers. Statistical analyses included receiver operating characteristic curves, and hierarchical logistic regression analysis. Results: The hierarchical analysis, patients who had high dietary adherence showed a positive association with good glycemic control (adjustedOR = 2.56, 95% CI:1.18-5.59, P = 0.016). Thus, age greater than 40 years was associated with good glycemic control compared to the children and adolescents group (adjustedOR = 4.55, 95% CI:1.14-18.1, P = 0.031). Males were associated with good glycemic control (adjustedOR = 2.00, 95% CI:1.01-4.00, P =0.047). Conclusion: The study findings suggest that consistent adherence to dietary regimens is associated with good glycemic control after adjusting for sociodemographic and genomic ancestry factors in an admixed population of T1D patients from Northeast Brazil.

Uma análise sobre o preenchimento do prontuário odontológico em uma universidade brasileira / Dental record filling out analysis at a Brazilian University

Esse estudo tem como objetivo investigar a qualidade do preenchimento do prontuário odontológico na Clínica Escola da Faculdade de Odontologia da Universidade Federal do Maranhão (UFMA) através da análise da percepção dos discentes sobre a temática e a avaliação de uma amostra de prontuários utilizados na instituição de ensino. Um estudo transversal foi conduzido com 67 discentes matriculados no Curso de Odontologia do quarto ao nono período do curso de graduação, representando 48,2% da população alvo. Além disso, foram analisados 73 prontuários preenchidos em atendimentos odontológicos nesta instituição do entre 2020 a 2022. Um questionário com questões abertas e fechadas foi respondido pelos participantes. As medidas de frequência absoluta e relativa foram utilizadas na análise descritiva dos dados. Observou-se que mais de 90% concordaram total ou parcialmente que preenchem corretamente os prontuários, entretanto, a análise dos prontuários revelou a ausência de itens obrigatórios A frequência do preenchimento dos itens obrigatórios está listada a seguir: identificação do paciente (80,8%), assinatura do docente (75,3%), termo de consentimento do paciente (74%), seção anamnese completa (69,9%), radiografias (64,4%), plano de tratamento (34,2%), questionário Covid (13,7%) e identificação dos discentes (60,3%). Os achados deste estudo indicam que é necessário o aperfeiçoamento das orientações pedagógicas sobre preenchimento do prontuário odontológico no intuito de reduzir possíveis inadequações no uso deste documento legal

This study aims to investigate the quality of dental record at the Dental School Clinic of Maranhao Federal University (UFMA) through analyzing the students' perception of the topic and evaluating a sample of records used at the educational institution. A cross-sectional study was conducted with 67 undergraduate dental students from second to fifth year, representing 48.2% of the target population. Additionally, 73 records that were filled out during dental appointments at this institution from 2020 to 2022 were analyzed. Participants responded a questionnaire containing both open-ended and closed-ended questions. Absolute and relative frequency measures were used in the descriptive data analysis. It was observed that over 90% partially or fully agreed that they correctly fill out the records, but the analysis of the records revealed the absence of mandatory items. The frequency of completion for the mandatory items is listed as follows: patient identification (80.8%), faculty signature (75.3%), patient consent form (74%), complete medical history section (69.9%), radiographs (64.4%), treatment plan (34.2%), Covid questionnaire (13.7%), and student identification (60.3%). The findings of this study indicate the need for improvement in pedagogical guidance on dental record completion in order to reduce possible inadequacies in the use of this legal document

Fusobacterium nucleatum and Prevotella in women with periodontitis and preterm birth

Background: Studies try to explain the hypothesis that maternal periodontitis may be associated with preterm birth. Material and methods: This is a case-control study with 120, 40 cases (gestational age <37 weeks) and 80 controls (gestational age ≥37 weeks), that were submitted to the clinical periodontal examination and subgingival biofilm collection. Bacterial DNA of subgingival biofilm was performed and processed by qPCR. Results: Periodontitis was statistically significant in the Case group (35%) when compared to the Control group (11.2%) and Gingival Bleeding Index (GBI), sites with PS ≥ 4mm and sites with CAL ≥ 5mm were statistically higher in the Case group (p < 0.05). The proportions of Pi (p = 0.026) and Fn (p = 0.041) of subgingival biofilm were higher in the Case group. A greater number of sites with PS ≥ 4mm (r = -0.202; p = 0.026) and CAL ≥ 5mm (r = -0.322; p < 0.001) were correlated to lower gestational age. Conclusions: Periodontitis, preterm delivery, and/or low birth weight may have a possible relationship based on clinical parameters and the ratio of Pi and Fn at periodontal sites. (AU)

Physicochemical and histological analysis of an experimental endodontic repair material containing 45S5 bioactive glass.

This study aimed to evaluate the maximum compressive strength, the modulus of elasticity, pH variation, ionic release, radiopacity and biological response of an experimental endodontic repair cement based on 45S5 Bioglass®. An in vitro and in vivo study with an experimental endodontic repair cement containing 45S5 bioactive glass was conducted. There were three endodontic repair cement groups: 45S5 bioactive glass-based (BioG), zinc oxide-based (ZnO), and mineral trioxide aggregate (MTA). In vitro tests were used to evaluate their physicochemical properties: compressive strength, modulus of elasticity, radiopacity, pH variation, and the ionic release of Ca+ and PO4. An animal model was used to evaluate the bone tissue response to endodontic repair cement. Statistical analysis included the unpaired t-test, one-way ANOVA and Tukey's test. BioG showed the lowest compressive strength and ZnO showed the highest radiopacity among the groups, respectively (p < 0.05). There were no significant differences in the modulus of elasticity among the groups. BioG and MTA maintained an alkaline pH during the 7 days of evaluation, both at pH 4 and in a pH 7 buffered solutions. PO4 was elevated in BioG, peaking at 7 days (p < 0.05). Histological analysis showed less intense inflammatory reactions and new bone formation in MTA. BioG showed inflammatory reactions that decreased over time. These findings suggest that the BioG experimental cement had good physicochemical characteristics and biocompatibility required for bioactive endodontic repair cement.

Association between HLA Class II Alleles/Haplotypes and Genomic Ancestry in Brazilian Patients with Type 1 Diabetes: A Nationwide Exploratory Study.

We aimed to identify HLA-DRB1, -DQA1, and -DQB1 alleles/haplotypes associated with European, African, or Native American genomic ancestry (GA) in admixed Brazilian patients with type 1 diabetes (T1D). This exploratory nationwide study enrolled 1599 participants. GA percentage was inferred using a panel of 46 ancestry informative marker-insertion/deletion. Receiver operating characteristic curve analysis (ROC) was applied to identify HLA class II alleles related to European, African, or Native American GA, and showed significant (p < 0.05) accuracy for identifying HLA risk alleles related to European GA: for DRB1*03:01, the area under the curve was (AUC) 0.533; for DRB1*04:01 AUC = 0.558, for DRB1*04:02 AUC = 0.545. A better accuracy for identifying African GA was observed for the risk allele DRB1*09:01AUC = 0.679 and for the protective alleles DRB1*03:02 AUC = 0.649, DRB1*11:02 AUC = 0.636, and DRB1*15:03 AUC = 0.690. Higher percentage of European GA was observed in patients with risk haplotypes (p < 0.05). African GA percentage was higher in patients with protective haplotypes (p < 0.05). Risk alleles and haplotypes were related to European GA and protective alleles/haplotypes to African GA. Future studies with other ancestry markers are warranted to fill the gap in knowledge regarding the genetic origin of T1D in highly admixed populations such as that found in Brazil.

Factors associated with relapse and hospital death in patients coinfected with visceral leishmaniasis and HIV: a longitudinal study.

OBJECTIVE: Visceral leishmaniasis (VL) is an endemic parasitic disease in Latin America, and its clinical picture is aggravated in coinfections with the human immunodeficiency virus (HIV). The objective of this study was to investigate clinical factors and laboratory variables associated with VL relapse and death in VL/HIV coinfected patients. METHODS: A prospective longitudinal study was conducted from January 2013 to July 2020 among 169 patients coinfected with VL and HIV. The outcomes investigated were the occurrence of VL relapse and death. Chi-square test, Mann-Whitney test and logistic regression models were used for statistical analysis. RESULTS: The occurrence rates were 41.4% for VL relapse and 11.2% for death. Splenomegaly and adenomegaly were associated with the increased risk of VL relapse. Patients with VL relapse had higher levels of urea (p = .005) and creatinine (p < .001). Patients who died had lower red blood cell counts (p = .012), hemoglobin (p = .017) and platelets (p < .001). The adjusted model showed that antiretroviral therapy for more than 6 months was associated with a decrease in VL relapse, and adenomegaly was associated with an increase in VL relapse. In addition, edema, dehydration, poor general health status, and paleness were associated with an increase in hospital death. CONCLUSION: The findings suggest that adenomegaly, antiretroviral therapy, and renal abnormalities can be associated with VL relapse, while hematological abnormalities, and clinical manifestations like paleness, and edema can be associated with an increased odds of hospital death. TRIAL REGISTRATION NUMBER: The study was submitted to the Ethics and Research Committee of the Federal University of Maranhão (Protocol: 409.351).

Orofacial traits related to oral health-related quality of life in Brazilian acromegaly patients.

OBJECTIVE: To investigate orofacial traits and general factors related to oral health-related quality of life in acromegaly patients. MATERIALS AND METHODS: A cross-sectional study with 34 acromegaly patients was conducted. The OHIP-14 questionnaire was used to assess oral health-related quality of life scores. To assess orofacial and occlusion morphology, an oral evaluation was performed. Correlation measures, multiple linear regression and a structural equation model (SEM) were used in the statistical analysis. RESULTS: The presence of arthrosis (SC = 0.467, SE = 0.155, p = 0.003) and smoking history (SC = 0.459, SE = 0.206, p = 0.026) were associated with a negative impact on oral health-related quality of life. Mandibular protrusion was related to physical pain (ß = 2.74, p = 0.029). Anterior open bite (ß = 4.44, p = 0.004) and anterior crossbite (ß = 2.61, p = 0.026) were related to psychological disability. Diastema was related to social disability (ß = 3.42, p = 0.037) and handicap (ß = 2.74, p = 0.044). CONCLUSION: The findings suggest that smoking, arthrosis and orofacial alterations (mandibular protrusion, open bite, crossbite and diastema) have a negative impact on oral health-related quality of life in acromegaly patients.

Oropharyngeal complex differences related to sex and occlusal factors in adolescents aged 12-17 years.

OBJECTIVE: To investigate oropharyngeal complex differences related to sex and occlusal factors in adolescents. METHODS: A cross-sectional study was conducted with 108 patients aged 12-17 years. The oropharyngeal complex was evaluated by imaging exams. Occlusal variables included molar relationship, facial growth pattern, maxilla shape, tooth loss, anterior crossbite, and anterior open bite. Statistical analysis included independent t-test, Mann-Whitney, ANOVA, and Kruskal-Wallis tests. The significance level was 5%. RESULTS: There were increases of the tongue measurement (p = 0.026) and the hyoid approach at the base of the mandible among boys (p = 0.016) and the distance from the hyoid at the base of the mandible among girls (p = 0.039). There was shortening of the soft palate measurements (p = 0.003 and p = 0.007) and tongue (p = 0.018) among adolescents with an anterior crossbite. CONCLUSION: Findings suggest sex, age, and anterior crossbite can be related to oropharyngeal morphology.

Relationship between craniofacial and dental arch morphology with pharyngeal airway space in adolescents.

PURPOSE: The aim of the study was to investigate a possible relationship between pharyngeal airway space, craniofacial variables, and dental arch form in adolescents grouped by sex. METHODS: This cross-sectional study included 108 adolescents aged between 12 and 17 years. Lateral cephalometric radiographs were used to analyze sagittal craniofacial variables and the pharyngeal airway space. For evaluation of the dental arch form, we used plaster models. Statistical analysis included Student's t­test and Pearson's correlation coefficient (r). RESULTS: Maxillary length was directly proportional to upper nasopharyngeal airway dimensions in males (r = 0.312, p = 0.021) and females (r = 0.310, p = 0.022). In the female group, upper oropharyngeal measurements showed an inverse correlation with a labial inclination of the upper incisors (r = -0.415, p = 0.001), protrusion of the upper incisors (r = -0.364, p = 0.006), and soft palate thickness (r = -0.27, p = 0.043). In the male group, upper nasopharynx measurements showed an inverse correlation with soft palate thickness (r = -0.277, p = 0.042). The upper arch form appeared to be related to oropharyngeal measurements in females, while the lower arch form was related to oropharyngeal dimensions in males. CONCLUSION: The findings suggest that there are sex-dependent correlations of the nasopharyngeal and oropharyngeal airway space with the sagittal craniofacial morphology and the transversal dental arch form.

The influence of periodontal status and serum biomarkers on salivary leptin levels in systemic lupus erythematosus patients.

Objective: This study aimed to investigate the influence of periodontal status, clinical data, and serum markers on salivary leptin levels in patients with systemic lupus erythematosus (SLE). Methods: A case-control study was conducted with 38 patients with SLE and 29 healthy controls. Periodontal data included periodontal probing depth (PPD), clinical attachment level (CAL), and gingival bleeding on probing (BOP). Stimulated saliva samples were collected to analyze salivary leptin levels. Clinical and serum data were collected from the SLE group. Statistical analysis included the t-test, Mann-Whitney test, Spearman correlation coefficient, and a structural equation model. Results: The SLE group had a lower salivary leptin level than the control group (P = 0.002). The model revealed that SLE had an inverse and independent effect on salivary leptin (standardized estimate =  - 0.289, P = 0.023). Moreover, salivary leptin level negatively correlated with the serum levels of triglyceride, creatinine, and leukocytes, positively correlated with the serum total cholesterol, but was not significantly correlated with the periodontal status. Conclusion: These findings suggest that patients with SLE have a lower salivary leptin level. In addition, the level of salivary leptin does not appear to be related to periodontal status in patients with SLE.

Compressive strength of premolars restored with ceramic crowns and supported with a glass fiber post using different luting agents.

Objective: The retention of glass fiber post (GFP) is considered a key factor for the long-term success of restorations of endodontically treated teeth. This study aimed to compare the compressive strength of a ceramic crown supported by a GFP using different luting agents. Methods: Forty single-rooted premolars were randomly divided into four groups (n = 10 each): control group (teeth without a GFP), Ketac Cem group (glass ionomer), RelyX ARC group (conventional dual-curing resin), and RelyX U200 group (self-adhesive dual-curing resin). After luting of the posts and placement of all-ceramic crowns made using feldspathic porcelain (Noritake EX-3), they were exposed to thermocycling for 1000 cycles and compressive strength tests. Statistical analysis included Kruskal-Wallis test with Dunn's multi-comparison test. Results: The Ketac Cem group and RelyX U200 group showed significantly greater fracture resistance to compressive loading than the control group. Conclusion: This study indicates a possible role of the luting agent used with the GFP in influencing the compressive strength of the restored teeth. In this study, the self-adhesive dual-curing resin and glass ionomer both offered resistance to fractures.

HLA Genotypes and Type 1 Diabetes and Its Relationship to Reported Race/Skin Color in Their Relatives: A Brazilian Multicenter Study.

We aimed to investigate the relationship between HLA alleles in patients with type 1 diabetes from an admixed population and the reported race/skin color of their relatives. This cross-sectional, multicenter study was conducted in public clinics in nine Brazilian cities and included 662 patients with type 1 diabetes and their relatives. Demographic data for patients and information on the race/skin color and birthplace of their relatives were obtained. Typing of the HLA-DRB1, -DQA1, and -DQB1 genes was performed. Most studied patients reported having a White relative (95.17%), and the most frequently observed allele among them was DRB1*03:01. Increased odds of presenting this allele were found only in those patients who reported having all White relatives. Considering that most of the patients reported having a White relative and that the most frequent observed allele was DRB1*03:01 (probably a European-derived allele), regardless of the race/skin color of their relatives, we conclude that the type 1 diabetes genotype comes probably from European, Caucasian ethnicity. However, future studies with other ancestry markers are needed to fill the knowledge gap regarding the genetic origin of the type 1 diabetes genotype in admixed populations such as the Brazilian.

Identifying metabolic parameters related to severity and extent of periodontitis in down syndrome patients.

BACKGROUND AND OBJECTIVE: Systemic metabolic status and periodontitis can be related in patients with Down syndrome (DS). The objective of this study was to identify metabolic indicators (anthropometric measurements, blood pressure, and serum markers) related to severity and extent of periodontitis in DS patients. METHODS: A cross-sectional study was conducted with 49 patients with DS. Periodontal evaluation included the periodontal probing depth (PPD), clinical attachment level (CAL), gingival bleeding index (GBI), and visible plaque index (VPI). Periodontitis severity was classified by the stages system. The extent of periodontitis was assessed as the percentage of sites with CAL ≥3 mm, CAL ≥4 mm, PPD ≥4 mm, and PPD ≥5 mm. The metabolic condition of the participants was determined by analyzing anthropometric parameters, blood pressure, and serum markers. Data were analyzed using the Mann-Whitney test, Spearman's correlation coefficient, and multivariate regression analysis. RESULTS: Periodontitis stage 3/4 was detected in 32.7% of patients, with high values of VPI (54.6 ± 35.8) and GBI (42.4 ± 33.3). The severity of periodontitis was related to higher mean corpuscular hemoglobin (ß = .291, p = .028) and mean corpuscular volume values (ß = .293, p = .046). Arm circumference measurements were inversely related to CAL ≥3 mm (ß = -.408, p = .023), PPD ≥4 mm (ß = -.475, p = .006), and PPD ≥5 mm (ß = -.443, p = .010). CONCLUSIONS: The findings suggest that the severity and extent of periodontitis may be related to some metabolic parameters in DS patients.

Relationship among health-related quality of life and global ancestry, clinical and socioeconomic factors in type 1 diabetes in an admixed Brazilian population.

We aimed to evaluate the Health-related quality of life (HRQoL) of Type 1 diabetes mellitus (T1D) patients in an admixed Brazilian population. This is a cross-sectional study with 152 T1D patients. HRQoL information was obtained from two self-completed questionnaires: Short Form-6 dimensions and EuroQol-5 dimensions with visual analog scale. For inference of global ancestry, the panel of 46 autosomal informational insertion/deletion ancestry markers was used. Demographic and socioeconomic data, presence of chronic complications, glycemic control level, and type of treatment were obtained. Patients with good HRQoL were: male, under 18 years old, had health insurance, less than 5 years of diagnosis, practiced physical activity, without hypoglycemia in the last 30 days, absence of retinopathy and nephropathy, a participant in educational activities, used analogous insulin, monitoring blood glucose, observed maximum adherence to treatment and came from the secondary service. Global ancestry and self-reported color/race did not influence HRQoL indexes. Our study is the first to measure HRQoL, global ancestry and recognize the impact of T1D on the lives of patients in the State of Maranhão, Brazil. The results validate the need to provide T1D patients with continuous training on self-management and self-monitoring, aiming for better results in metabolic control and, subsequently, in the prevention of acute and chronic complications, in order to generate positive impacts on the quality of life of this population. We understand that global ancestry in a highly mixed population such as ours did not influence the HRQoL of these patients.

Violet led dental whitening: Effectiveness and biological safety: An in vitro study.

INTRODUCTION: The light-emitting diode (Led) in the violet spectrum associated or not with hydrogen peroxide (HP) has been suggested as a promising technique for dental bleaching. Violet led has a wavelength of 405-410 nm, which is very close to that of ultraviolet (UV) radiation, and this has raised biological safety concerns. AIM: To investigate the effectiveness of the violet led dental bleaching technique by evaluating color parameters, enamel surface microhardness, and biological safety analysis. METHODS: One hundred bovine dental blocks were divided into groups according to the bleaching technique (G1 - only HP; G2 - HP associated with blue led; G3 - only blue led; G4 - HP associated with a violet led; and G5 - only violet led). The color analysis (ΔE, ΔL, and WID) and enamel surface microhardness were assessed before and after bleaching (immediately, 5, 14, and 30 days). The biological safety of the violet led irradiation was assessed by measuring the number of micronuclei formed in human cells in culture in response to irradiation. Data analysis included Kruskal-Wallis test, Friedman test, and Mann-Whitney test. RESULTS: In groups G4 and G5 there was the formation of precipitates on the enamel surface. At the time of 14 days, it was observed that the G2 group had lower values of microhardness than G5. ΔL and ΔE showed differences between groups in experimental times. Mean percentages of micronuclei occurrence were similar in the control group and the violet led group. CONCLUSION: The violet led irradiation can be applied for dental bleaching because this approach produces significant color changes preserving tooth enamel integrity and causes no genotoxic effects on vital cells.

The Importance of Periodical Screening for Primary Hyperparathyroidism in a Pituitary Tumor Cohort in Searching Patients With MEN1 and Its Genetic Profile.

OBJECTIVE: Multiple endocrine neoplasia type 1 (MEN1) is a rare genetic syndrome characterized by parathyroid, anterior pituitary, and/or duodenopancreatic neuroendocrine tumors. Studies have indicated that investigating primary hyperparathyroidism (pHPT) with subsequent genetic screening may be an essential tool for the early diagnosis of MEN1 in patients with pituitary tumors (PTs). This study aimed to investigate the presence of pHPT in patients with PTs and, subsequently, to screen for genetic mutations and related tumors in patients with MEN1 syndrome. METHODS: This study included 255 patients with PTs who were assessed for the presence of MEN1 by serum calcium and parathyroid hormone measurements. Mutation screening of the MEN1, CDKN1B, and AIP genes was performed in the index cases showing the MEN1 phenotype. RESULTS: Five patients with PTs presented a clinical condition compatible with MEN1. These patients had a younger age of onset and a more severe clinical condition. Genetic analysis identified a frameshift mutation in the MEN1 gene in one of the cases with the MEN1 phenotype, but point mutations in CDKN1B and AIP were not detected in any of these patients. CONCLUSION: Our results show that periodic screening for pHPT in patients with PTs may be useful to detect MEN1 syndrome; thus, it is recommended in those patients with both findings a genetic analysis of MEN1 gene and an additional search of related tumors. By contrast, our data suggest that CDKN1B and AIP mutations do not seem to play a relevant role in the pathogenesis of MEN1.

Early Markers of Cardiovascular Disease Associated with Clinical Data and Autosomal Ancestry in Patients with Type 1 Diabetes: A Cross-Sectional Study in an Admixed Brazilian Population.

Patients with type 1 diabetes (T1D) have a higher risk of developing cardiovascular disease (CVD), which is a major cause of death in this population. This study investigates early markers of CVD associated with clinical data and autosomal ancestry in T1D patients from an admixed Brazilian population. A cross-sectional study was conducted with 99 T1D patients. The mean age of the study sample was 27.6 years and the mean duration of T1D was 14.4 years. The frequencies of abnormalities of the early markers of CVD were 19.6% in the ankle-brachial index (ABI), 4.1% in the coronary artery calcium score (CACS), and 5% in the carotid Doppler. A significant percentage of agreement was observed for the comparison of the frequency of abnormalities between CACS and carotid Doppler (92.2%, p = 0.041). There was no significant association between the level of autosomal ancestry proportions and early markers of CVD. The ABI was useful in the early identification of CVD in asymptomatic young patients with T1D and with a short duration of disease. Although CACS and carotid Doppler are non-invasive tests, carotid Doppler is more cost-effective, and both have limitations in screening for CVD in young patients with a short duration of T1D. We did not find a statistically significant relationship between autosomal ancestry proportions and early CVD markers in an admixed Brazilian population.