Estudo citogenético, regiões 2q37e 22q13.3 e condições médicas em doenças do espectro autístico

Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)

Inherited hemoglobin disorders in an Afro-Amazonian community: Saracura

ABSTRACT: The most common hemoglobinopathies, viz, hemoglobins S and C, and α-and β-thalassemias, were investigated through the molecular screening of 116 subjects from the community of Saracura, comprising fugitive African slaves from farms of the municipality of Santarém, in the west of Pará State, Brazilian Amazon. The observed frequency of the HBB*S gene (0.9%) was significantly lower than that encountered in other Afro-derived communities in the region. Concomitantly, the absence of the HBB*C allele has been reported for most of the Afro-Amazonian communities thus far studied. As remnant populations of quilombos are generally small, the heterogeneous distribution of HBB*S and HBB*C alleles among them is probably due to genetic drift and/or founder effect. The observed frequency of 3.7 kb deletion in Saracura (8.5%) was consistent with the African origin of the population, with a certain degree of local differentiation and admixture with individuals of Caucasian ancestry, placed in evidence by the occurrence of - -(MED) deletion (1.2%), a common mutation in Mediterranean regions. As regards f-thalassemia, among the seven different mutations found in Saracura, three βºand two β+ mutations were of Mediterranean origin, and two β+ of African. Thus, only 28% of the local β-thalassemia mutations found in Saracura were of African origin.

Genetic identification of bucktooth parrotfish Sparisoma radians (Valenciennes, 1840) (Labridae, Scarinae) by chromosomal and molecular markers

Parrotfishes (Labridae, Scarinae) comprise a large marine fish group of difficult identification, particularly during juvenile phase when the typical morphology and coloration of adults are absent. Therefore, the goal of this study was to test cytogenetic markers and DNA barcoding in the identification of bucktooth parrtotfish Sparisoma radians from the northeastern coast of Brazil. Sequencing of cytochrome c oxidase subunit I (COI) confirmed all studied samples as S. radians, and all showed high similarity (99-100%) with Caribbean populations. The karyotype of this species was divergent from most marine Perciformes, being composed of 2n = 46 chromosomes. These consisted of a large number of metacentric and submetacentric pairs with small amounts of heterochromatin and GC-rich single nucleolar organizer regions (NORs) not syntenic to 5S rDNA clusters. These are the first data about DNA barcoding in parrotfish from the Brazilian province and the first refined chromosomal analysis in Scarinae, providing useful data to a reliable genetic identification of S. radians.

Chromosomal diversity in three species of electric fish (Apteronotidae, Gymnotiformes) from the Amazon Basin

Cytogenetic studies were carried out on samples of Parapteronotus hasemani, Sternarchogiton preto and Sternarchorhamphus muelleri (Apteronotidae, Gymnotiformes) from the Amazon basin. The first two species exhibited both a 2n = 52 karyotype, but differed in their karyotypic formulae, distribution of constitutive heterochromatin, and chromosomal location of the NOR. The third species, Sternarchorhamphus muelleri, was found to have a 2n = 32 karyotype. In all three species the DAPI and chromomycin A3 staining results were consistent with the C-banding results and nucleolar organizer region (NOR) localization. The 18S rDNA probe confirmed that there was only one pair of ribosomal DNA cistron bearers per species. The telomeric probe did not reveal interstitial telomeric sequences (ITS). The karyotypic differences among these species can be used for taxonomic identification. These data will be useful in future studies of these fishes and help understanding the phylogenetic relationships and chromosomal evolution of the Apteronotidae.

Radiographic study of dental anomalies in brazilian patients with neuropsychomotor disorders

The purposes of this study were to investigate radiographically the dental and maxillomandibular in patients with neuropsychomotor disorders and determine the role of panoramic radiographs for quantitative and qualitative analyses of dental alterations. A total of 322 panoramic radiographs from 190 males and 132 females aged 4 to 57 years were obtained from the files of the Center for Care to Patients with Special Needs (CAPE; Dental School, University of São Paulo) and subdivided into syndromes, special needs, neurological, neuromuscular or cerebral disorders, and sequels of diseases. 32% of dental alterations were in tooth position, with 69% of this group associated with tooth rotation. The mandible accounted for 54.62% of alterations. The male gender (55.85%) and the permanent dentition (78.7%) were most affected. Panoramic radiographs were proved to be well suited for quantitative evaluation of dental anomalies of epidemiological nature. Panoramic radiographs are important diagnostic resources when applied to patients with special needs because of the difficulty to place intraoral films and held them correctly positioned during the radiographic technique.

Estudo comparativo dos constituintes químicos de Brosimum gaudichaudii Trécul e do medicamento V

Pós-graduação em Química - IQ

Painful temporomandibular disorders, self reported tinnitus, and depression are highly associated

Objetivo Investigar a associação entre disfunção temporomandibular (DTM) dolorosa, auto-relato de zumbido e níveis de depressão. Método A amostra foi composta por 224 indivíduos com idades de 18 a 76 anos. O Research Diagnostic Criteria for Temporomandibular Disorders , eixo I, foi usado para classificar a DTM e o eixo II para obtenção do auto-relato de zumbido e dos níveis de depressão. Para a análise dos dados, foi aplicado o teste odds ratio (OR) com intervalo de confiança (IC) de 95%. Resultado Somente a presença de DTM dolorosa estava significativamente associada aos níveis de depressão moderado/severo (OR=9,3, 95%; IC: 3,44-25,11). A presença concomitante de DTM dolorosa e auto-relato de zumbido aumentaram a magnitude da associação com os níveis de depressão moderado/severo (OR=16,3; 95% IC: 6,58-40,51). Conclusão Disfunção temporomandibular dolorosa, altos níveis de depressão e auto-relato de zumbido estão fortemente associados. Entretanto, o desenho do estudo não permite estabelecer uma relação causal entre essas três entidades.

Anatomical changes and audiological profile in branchio-oto-renal syndrome: a literature review

Introduction  Branchio-oto-renal (BOR) syndrome is an autosomal-dominant genetic condition with high penetrance and variable expressivity, with an estimated prevalence of 1 in 40,000. Approximately 40% of the patients with the syndrome have mutations in the gene EYA1, located at chromosomal region 8q13.3, and 5% have mutations in the gene SIX5 in chromosome region 19q13. The phenotype of this syndrome is characterized by preauricular fistulas; structural malformations of the external, middle, and inner ears; branchial fistulas; renal disorders; cleft palate; and variable type and degree of hearing loss. Aim  Hearing loss is part of BOR syndrome phenotype. The aim of this study was to present a literature review on the anatomical aspects and audiological profile of BOR syndrome. Data Synthesis  Thirty-four studies were selected for analysis. Some aspects when specifying the phenotype of BOR syndrome are controversial, especially those issues related to the audiological profile in which there was variability on auditory standard, hearing loss progression, and type and degree of the hearing loss. Mixed loss was the most common type of hearing loss among the studies; however, there was no consensus among studies regarding the degree of the hearing loss.

uPAR expression in canine normal prostate and with proliferative disorders

Prostatic lesions such as prostatic intraepithelial neoplasia (PIN) and proliferative inflammatory atrophy (PIA) are studied in human and canine species due to their malignance potential. The plasminogen activator (PA) system has been suggested to play a central role in cell adhesion, angiogenesis, inflammation, and tumor invasion. The urokinase-type plasminogen activator receptor (uPAR) is a component of the PA, with a range of expression in tumor and stromal cells. In this study, uPAR expression in both canine normal prostates and with proliferative disorders (benign prostatic hyperplasia-BPH, proliferative inflammatory atrophy-PIA, prostatic intraepithelial neoplasia-PIN, and carcinoma-PC) was evaluated by immunohistochemistry in a tissue microarray (TMA) slide to establish the role of this enzyme in extracellular matrix (ECM) remodeling and in the processes of tissue invasion. A total of 298 cores and 355 diagnoses were obtained, with 36 (10.1%) normal prostates, 46 (13.0%) with BPH, 128 (36.1%) with PIA, 74 (20.8%) with PIN and 71 (20.0%) with PC. There is variation in the expression of uPAR in canine prostate according to the lesion, with lower expression in normal tissue and with BPH, and higher expression in tissue with PIA, PIN and PC. The high expression of uPAR in inflammatory and neoplastic microenvironment indicates increased proteolytic activity in canine prostates with PIA, PIN, and PC.

Severity of temporomandibular disorders in women: validity and reliability of the Fonseca Anamnestic Index

The aim of this study was to assess the validity and reliability of the Fonseca Anamnestic Index (IAF), used to assess the severity of temporomandibular disorders, applied to Brazilian women. We used a probabilistic sampling design. The participants were 700 women over 18 years of age, living in the city of Araraquara (SP). The IAF questionnaire was applied by telephone interviews. We conducted Confirmatory Factor Analysis (CFA) using Chi-Square Over Degrees of Freedom (χ2/df), Comparative Fit Index (CFI), Tucker-Lewis Index (TLI), and Root Mean Square Error of Approximation (RMSEA) as goodness of fit indices. We calculated the convergent validity, the average variance extracted (AVE) and the composite reliability (CR). Internal consistency was assessed by Cronbach's alpha coefficient (α).The factorial weights of questions 8 and 10 were below the adequate values. Thus, we refined the original model and these questions were excluded. The resulting factorial model showed appropriate goodness of fit to the sample (χ2/df = 3.319, CFI = 0.978, TLI = 0.967, RMSEA = 0.058). The convergent validity (AVE = 0.513, CR = 0.878) and internal consistency (α = 0.745) were adequate. The reduced IAF version showed adequate validity and reliability in a sample of Brazilian women.

Correlações entre sono-vigília, memória e melatonina em Síndrome de Williams-Beuren

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

Treatment of Comorbid Migraine and Temporomandibular Disorders: A Factorial, Double-Blind, Randomized, Placebo-Controlled Study

Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)

Enteral nutrition feeding alters antioxidant activity in unstimulated whole saliva composition of patients with neurological disorders

Patients with neurological disorders have an increased risk of oral and systemic diseases due to compromised oral hygiene. If patients lose the ability to swallow and chew food as a result of their disorder, enteral nutrition is often utilized. However, this type of feeding may modify salivary antioxidant defenses, resulting in increased oxidative damage and the emergence of various diseases. The aim of this study was to evaluate the effects of enteral nutrition on biochemical parameters in the unstimulated whole saliva composition of patients with neurological disorders. For this, enzymatic (superoxide dismutase - SOD; glutathione peroxidase - GPx) and non-enzymatic (uric acid; ferric ion reducing antioxidant power - FRAP) antioxidant activity, as well as a marker for oxidative damage (thiobarbituric acid reactive substances - TBARS) were analyzed. Unstimulated whole saliva was collected from 12 patients with neurological disorders and tube-feeding (tube-fed group - TFG), 15 patients with neurological disorders and normal feeding via the mouth (non-tube-fed group - NTFG), and 12 volunteers without neurological disorders (control group - CG). The daily oral hygiene procedures of TFG and NTFG patients were similar and dental care was provided monthly by the same institution's dentist. All patients exhibited adequate oral health conditions. The salivary levels of FRAP, uric acid, SOD, GPx, TBARS, and total protein were compared between studied groups. FRAP was increased (p < 0.05) in the NTFG (4651 +/- 192.5 mmol/mL) and the TFG (4743 +/- 116.7 mmol/mL) when compared with the CG (1844 +/- 343.8 mmol/mL). GPx values were lower (p < 0.05) in the NTGF (8.24 +/- 1.09 mmol/min/mg) and the TFG (8.37 +/- 1.60 mmol/min/mg) than in the CG (15.30 +/- 2.61 mmol/min/mg). Uric acid in the TFG (1.57 +/- 0.23 mg/dL) was significantly lower than in the NTFG (2.34 +/- 0.20 mg/dL) and the CG (3.49 +/- 0.21 mg/dL). Protein was significantly lower in the TFG (5.35 +/- 0.27 g/dL) than in the NTFG (7.22 +/- 0.57 g/dL) and the CG (7.86 +/- 0.54 g/dL). There was no difference in the salivary flow rate and SOD between groups. Enteral nutrition in patients with neurological disorders was associated with lower oxidative damage, resulting in increased salivary. antioxidant capacity. These results emphasize the importance of oral care for this population to prevent oral and systemic diseases. (C) 2014 Elsevier Ltd. All rights reserved.

Headache Associated With Temporomandibular Disorders Among Young Brazilian Adolescents

Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)